Legend to Supplementary Tables 3a and 3b. Results of the analysis of: (a) FS and (b) I-F deletions. In both tables, the information obtained from COSMIC for each deletion (i.e., source tissue, gene mutated, the number of times that the mutation has been observed in the tissue and cDNA and protein level descriptions of the deletion) is indicated on a separate line, followed by results of the analysis of the deletion. Supplementary Table 3a - results of the analysis of FS deletions ---------------------------------------------------------------- lung ABL2 1 c.2371delG p.D791fs*43 length of cdnaseq = 3441 length of protseq = 1146 2371 2371 G 1 791 1 791 1 g Total no. of codons in cdna seq = 1147 gac gac prev g start g-g end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 3440 ter codon is tag at posn 833 Protein length after deletion = 832 Total no. of codons in del cdnaseq = 1147 last codon in array is ag gag (E) aat (N) gtg (V) gac (D) gac (D) agg (R) gcc (A) aat (N) gac (D) gag (E) aat (N) gtg (V) aca (T) ggg (G) cca (P) atg (M) original frameshift length = 43 frameshift length = 43 frameshifted sequence: aca (T) ggg (G) cca (P) atg (M) aca (T) tgc (C) ttc (F) caa (Q) aaa (K) aat (N) cag (Q) agg (R) aaa (K) gtg (V) ctg (L) ctc (L) caa (Q) gca (A) ggg (G) aga (R) gac (D) caa (Q) aag (K) cca (P) agt (S) tat (Y) tgc (C) cca (P) gag (E) gag (E) cca (P) cag (Q) ctc (L) ttc (F) ctc (L) tca (S) gaa (E) cac (H) cct (P) ctg (L) ggg (G) atc (I) tag (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 43 791 D 833 * 43 ovary ABL2 1 c.1427delC p.P476fs*7 length of cdnaseq = 3441 length of protseq = 1146 1427 1427 C 1 476 2 476 2 c Total no. of codons in cdna seq = 1147 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 3440 ter codon is tga at posn 482 Protein length after deletion = 481 Total no. of codons in del cdnaseq = 1147 last codon in array is ag gga (G) tgc (C) ccc (P) cct (P) cct (P) aag (K) gtt (V) tat (Y) gaa (E) gga (G) tgc (C) ccc (P) cta (L) agg (R) ttt (F) atg (M) original frameshift length = 7 frameshift length = 7 frameshifted sequence: cta (L) agg (R) ttt (F) atg (M) aac (N) tta (L) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 7 476 P 482 * 7 pancreas ACVR1B 2 c.1159_1163delGATGA p.D387fs*3 length of cdnaseq = 1464 length of protseq = 487 1159 1163 GATGA 5 387 1 388 2 gatga Total no. of codons in cdna seq = 488 gat gaa prev t start t-g end a-a --- --a frameshift deletion length of cdnaseq after deletion = 1459 ter codon is taa at posn 389 Protein length after deletion = 388 Total no. of codons in del cdnaseq = 487 last codon in array is g gaa (E) gta (V) ctt (L) gat (D) gaa (E) acc (T) att (I) aat (N) atg (M) gaa (E) gta (V) ctt (L) aac (N) cat (H) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aac (N) cat (H) taa (TER) wild type sequence in deletion region: gat (D) gaa (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 3 387 D 389 * 3 large_intestine APC 10 c.4233_4233delT p.S1411fs*4 length of cdnaseq = 8532 length of protseq = 2843 4233 4233 T 1 1411 3 1411 3 t Total no. of codons in cdna seq = 2844 agt agt start g-t post g end t-g ag- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gaa (E) cca (P) tgc (C) agt (S) agt (S) gga (G) atg (M) gta (V) agt (S) gaa (E) cca (P) tgc (C) agg (R) gaa (E) tgg (W) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: agg (R) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 4 1411 S 1414 * 4 large_intestine APC 10 c.4391_4394delAGAG p.E1464fs*8 length of cdnaseq = 8532 length of protseq = 2843 4391 4394 AGAG 4 1464 2 1465 2 agag Total no. of codons in cdna seq = 2844 gag agt start g-a end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) aag (K) caa (Q) gaa (E) aag (K) aga (R) gtg (V) gac (D) cta (L) agc (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: gag (E) agt (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 8 1464 E 1471 * 8 large_intestine APC 11 c.3956_3956delC p.P1319fs*2 length of cdnaseq = 8532 length of protseq = 2843 3956 3956 C 1 1319 2 1319 2 c Total no. of codons in cdna seq = 2844 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1320 Protein length after deletion = 1319 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) gaa (E) gat (D) cct (P) cct (P) gtg (V) agc (S) gaa (E) gtt (V) gct (A) gaa (E) gat (D) ctg (L) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctg (L) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 2 1319 P 1320 * 2 large_intestine APC 12 c.3926_3930delAAAAG p.E1309fs*4 length of cdnaseq = 8532 length of protseq = 2843 3926 3930 AAAAG 5 1309 2 1310 3 aaaag Total no. of codons in cdna seq = 2844 gaa aag start g-a post a end g-a g-- --- frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a gaa (E) ata (I) aaa (K) gaa (E) aag (K) att (I) gga (G) act (T) agg (R) gaa (E) ata (I) aaa (K) gat (D) tgg (W) aac (N) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: gaa (E) aag (K) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 4 1309 E 1312 * 4 stomach APC 12 c.4393_4394delAG p.S1465fs*3 length of cdnaseq = 8532 length of protseq = 2843 4393 4394 AG 2 1465 1 1465 2 ag Total no. of codons in cdna seq = 2844 agt agt prev g start g-a end g-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a aag (K) aga (R) gag (E) agt (S) agt (S) gga (G) cct (P) aag (K) caa (Q) aag (K) aga (R) gag (E) tgg (W) acc (T) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tgg (W) acc (T) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 1465 S 1467 * 3 large_intestine APC 13 c.4385_4386delAG p.S1465fs*3 length of cdnaseq = 8532 length of protseq = 2843 4385 4386 AG 2 1462 2 1462 3 ag Total no. of codons in cdna seq = 2844 aag aag start a-a post a end g-a a-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a act (T) gct (A) gaa (E) aag (K) aag (K) aga (R) gag (E) agt (S) gga (G) act (T) gct (A) gaa (E) aag (K) aga (R) gag (E) tgg (W) original frameshift length = 6 frameshift length = 6 frameshifted sequence: aag (K) aga (R) gag (E) tgg (W) acc (T) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aag (K) aag (K) matching aa in delstart region of wt and deletion mutant: aga (R) aga (R) matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 1465 S 1467 * 3 breast APC 1 c.3174_3174delT p.D1058fs*3 length of cdnaseq = 8532 length of protseq = 2843 3174 3174 T 1 1058 3 1058 3 t Total no. of codons in cdna seq = 2844 gat gat start a-t post g end t-g ga- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1060 Protein length after deletion = 1059 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ata (I) ata (I) gaa (E) gat (D) gat (D) gaa (E) ata (I) aaa (K) caa (Q) ata (I) ata (I) gaa (E) gag (E) aaa (K) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gag (E) aaa (K) taa (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 3 1058 D 1060 * 3 breast APC 1 c.3519_3519delG p.D1174fs*8 length of cdnaseq = 8532 length of protseq = 2843 3519 3519 G 1 1173 3 1173 3 g Total no. of codons in cdna seq = 2844 gtg gtg start t-g post g end g-g gt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1181 Protein length after deletion = 1180 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aaa (K) cgt (R) cat (H) gtg (V) gtg (V) gat (D) cag (Q) cct (P) att (I) aaa (K) cgt (R) cat (H) gtg (V) atc (I) agc (S) cta (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gtg (V) atc (I) agc (S) cta (L) ttg (L) att (I) ata (I) gtt (V) taa (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gtg (V) gtg (V) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 8 1174 D 1181 * 8 breast APC 1 c.3750_3750delA p.V1251fs*14 length of cdnaseq = 8532 length of protseq = 2843 3750 3750 A 1 1250 3 1250 3 a Total no. of codons in cdna seq = 2844 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1264 Protein length after deletion = 1263 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gcc (A) act (T) tgc (C) aaa (K) aaa (K) gtt (V) tct (S) tct (S) att (I) gcc (A) act (T) tgc (C) aag (K) ttt (F) ctt (L) cta (L) original frameshift length = 15 frameshift length = 15 frameshifted sequence: aag (K) ttt (F) ctt (L) cta (L) tta (L) acc (T) aag (K) aaa (K) caa (Q) tac (Y) aga (R) ctt (L) att (I) gtg (V) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 14 1251 V 1264 * 14 breast APC 1 c.4222_4222delG p.E1408fs*7 length of cdnaseq = 8532 length of protseq = 2843 4222 4222 G 1 1408 1 1408 1 g Total no. of codons in cdna seq = 2844 gaa gaa prev t start t-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gtt (V) cag (Q) agt (S) gaa (E) gaa (E) cca (P) tgc (C) agt (S) gga (G) gtt (V) cag (Q) agt (S) aac (N) cat (H) gca (A) gtg (V) original frameshift length = 7 frameshift length = 7 frameshifted sequence: aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 7 1408 E 1414 * 7 breast APC 1 c.4239_4239delG p.V1414fs*1 length of cdnaseq = 8532 length of protseq = 2843 4239 4239 G 1 1413 3 1413 3 g Total no. of codons in cdna seq = 2844 atg atg start t-g post g end g-g at- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tgc (C) agt (S) gga (G) atg (M) atg (M) gta (V) agt (S) ggc (G) att (I) tgc (C) agt (S) gga (G) atg (M) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: atg (M) taa (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: atg (M) atg (M) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 1414 V 1414 * 1 breast APC 1 c.4659_4659delA p.E1554fs*11 length of cdnaseq = 8532 length of protseq = 2843 4659 4659 A 1 1553 3 1553 3 a Total no. of codons in cdna seq = 2844 gca gca start c-a post g end a-g gc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1564 Protein length after deletion = 1563 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gag (E) aaa (K) gag (E) gca (A) gca (A) gaa (E) aaa (K) act (T) att (I) gag (E) aaa (K) gag (E) gcg (A) aaa (K) aaa (K) cta (L) original frameshift length = 12 frameshift length = 12 frameshifted sequence: gcg (A) aaa (K) aaa (K) cta (L) ttg (L) att (I) ctg (L) aaa (K) agg (R) acc (T) tat (Y) tag (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gca (A) gcg (A) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 11 1554 E 1564 * 11 endometrium APC 1 c.4391_4394delAGAG p.E1464fs*8 length of cdnaseq = 8532 length of protseq = 2843 4391 4394 AGAG 4 1464 2 1465 2 agag Total no. of codons in cdna seq = 2844 gag agt start g-a end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) aag (K) caa (Q) gaa (E) aag (K) aga (R) gtg (V) gac (D) cta (L) agc (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: gag (E) agt (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 8 1464 E 1471 * 8 large_intestine APC 1 c.1207_1207delG p.E403fs*51 length of cdnaseq = 8532 length of protseq = 2843 1207 1207 G 1 403 1 403 1 g Total no. of codons in cdna seq = 2844 gaa gaa prev t start t-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 453 Protein length after deletion = 452 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ggc (G) agg (R) cgt (R) gaa (E) gaa (E) atc (I) cga (R) gtc (V) ctt (L) ggc (G) agg (R) cgt (R) aaa (K) tcc (S) gag (E) tcc (S) original frameshift length = 51 frameshift length = 51 frameshifted sequence: aaa (K) tcc (S) gag (E) tcc (S) ttc (F) atc (I) ttt (F) tgg (W) aac (N) aga (R) tac (Y) gcg (A) ctt (L) act (T) gtg (V) aaa (K) cct (P) gtt (V) ggg (G) agt (S) ggc (G) agg (R) aag (K) ctc (L) atg (M) aac (N) cag (Q) gca (A) tgg (W) acc (T) agg (R) aca (T) aaa (K) atc (I) caa (Q) tgc (C) cag (Q) ctc (L) ctg (L) ttg (L) aac (N) atc (I) aga (R) tct (S) gtc (V) ctg (L) ctg (L) tgt (C) gtg (V) ttc (F) taa (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 51 403 E 453 * 51 large_intestine APC 1 c.1354_1355delGT p.V452fs*7 length of cdnaseq = 8532 length of protseq = 2843 1354 1355 GT 2 452 1 452 2 gt Total no. of codons in cdna seq = 2844 gtt gtt prev t start t-g end t-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 458 Protein length after deletion = 457 Total no. of codons in del cdnaseq = 2844 last codon in array is a gct (A) gtg (V) tgt (C) gtt (V) gtt (V) cta (L) atg (M) aaa (K) ctt (L) gct (A) gtg (V) tgt (C) tct (S) aat (N) gaa (E) act (T) original frameshift length = 7 frameshift length = 7 frameshifted sequence: tct (S) aat (N) gaa (E) act (T) ttc (F) att (I) tga (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 7 452 V 458 * 7 large_intestine APC 1 c.1756_1756delA p.S587fs*3 length of cdnaseq = 8532 length of protseq = 2843 1756 1756 A 1 586 1 586 1 a Total no. of codons in cdna seq = 2844 aaa aaa prev c start c-a end a-a --- -aa frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 589 Protein length after deletion = 588 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tca (S) acc (T) ctc (L) aaa (K) aaa (K) agc (S) gta (V) ttg (L) agt (S) tca (S) acc (T) ctc (L) aaa (K) gcg (A) tat (Y) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aaa (K) gcg (A) tat (Y) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 3 587 S 589 * 3 large_intestine APC 1 c.1859_1862delTTAC p.Y622fs*7 length of cdnaseq = 8532 length of protseq = 2843 1859 1862 TTAC 4 620 2 621 2 ttac Total no. of codons in cdna seq = 2844 ctt act start c-t end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tag at posn 628 Protein length after deletion = 627 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gtt (V) ggc (G) act (T) ctt (L) act (T) tac (Y) cgg (R) agc (S) cag (Q) gtt (V) ggc (G) act (T) ctt (L) acc (T) gga (G) gcc (A) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ctt (L) acc (T) gga (G) gcc (A) aga (R) caa (Q) aca (T) ctt (L) tag (TER) wild type sequence in deletion region: ctt (L) act (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) matching aa in delstart region of wt and deletion mutant: act (T) acc (T) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 7 622 Y 628 * 7 large_intestine APC 1 c.1984_1985delCT p.L662fs*11 length of cdnaseq = 8532 length of protseq = 2843 1984 1985 CT 2 662 1 662 2 ct Total no. of codons in cdna seq = 2844 cta cta prev t start t-c end t-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 672 Protein length after deletion = 671 Total no. of codons in del cdnaseq = 2844 last codon in array is a aac (N) aac (N) tgt (C) cta (L) cta (L) caa (Q) act (T) tta (L) tta (L) aac (N) aac (N) tgt (C) aca (T) aac (N) ttt (F) att (I) original frameshift length = 11 frameshift length = 11 frameshifted sequence: aca (T) aac (N) ttt (F) att (I) aca (T) aca (T) ctt (L) aaa (K) atc (I) tca (S) tag (TER) wild type sequence in deletion region: cta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cta (L) final frameshift length = 11 662 L 672 * 11 large_intestine APC 1 c.2128_2128delC p.L710fs*8 length of cdnaseq = 8532 length of protseq = 2843 2128 2128 C 1 710 1 710 1 c Total no. of codons in cdna seq = 2844 ctc ctc prev c start c-c end c-t --- -tc frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 717 Protein length after deletion = 716 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ctc (L) aag (K) aac (N) ctc (L) ctc (L) att (I) cat (H) tca (S) aag (K) ctc (L) aag (K) aac (N) tca (S) ttc (F) att (I) caa (Q) original frameshift length = 8 frameshift length = 8 frameshifted sequence: tca (S) ttc (F) att (I) caa (Q) agc (S) aca (T) aaa (K) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 8 710 L 717 * 8 large_intestine APC 1 c.2274_2274delA p.A759fs*2 length of cdnaseq = 8532 length of protseq = 2843 2274 2274 A 1 758 3 758 3 a Total no. of codons in cdna seq = 2844 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 760 Protein length after deletion = 759 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agg (R) aaa (K) caa (Q) aaa (K) aaa (K) gcc (A) cta (L) gaa (E) gca (A) agg (R) aaa (K) caa (Q) aag (K) ccc (P) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aag (K) ccc (P) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 2 759 A 760 * 2 large_intestine APC 1 c.2318_2319delTT p.F773fs*1 length of cdnaseq = 8532 length of protseq = 2843 2318 2319 TT 2 773 2 773 3 tt Total no. of codons in cdna seq = 2844 ttt ttt start t-t post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 773 Protein length after deletion = 772 Total no. of codons in del cdnaseq = 2844 last codon in array is a tca (S) gaa (E) act (T) ttt (F) ttt (F) gac (D) aat (N) ata (I) gac (D) tca (S) gaa (E) act (T) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 1 773 F 773 * 1 large_intestine APC 1 c.2319_2319delT p.F773fs*4 length of cdnaseq = 8532 length of protseq = 2843 2319 2319 T 1 773 3 773 3 t Total no. of codons in cdna seq = 2844 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 776 Protein length after deletion = 775 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tca (S) gaa (E) act (T) ttt (F) ttt (F) gac (D) aat (N) ata (I) gac (D) tca (S) gaa (E) act (T) ttg (L) aca (T) ata (I) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: ttg (L) aca (T) ata (I) tag (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 4 773 F 776 * 4 large_intestine APC 1 c.2329_2332delGACA p.D777fs*2 length of cdnaseq = 8532 length of protseq = 2843 2329 2332 GACA 4 777 1 778 1 gaca Total no. of codons in cdna seq = 2844 gac aat prev a start a-g end a-a --- -at frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 778 Protein length after deletion = 777 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gac (D) aat (N) ata (I) gac (D) aat (N) tta (L) agt (S) ccc (P) aag (K) gac (D) aat (N) ata (I) att (I) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: att (I) taa (TER) wild type sequence in deletion region: gac (D) aat (N) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 2 777 D 778 * 2 large_intestine APC 1 c.2343_2343delC p.K782fs*38 length of cdnaseq = 8532 length of protseq = 2843 2343 2343 C 1 781 3 781 3 c Total no. of codons in cdna seq = 2844 ccc ccc start c-c post a end c-a cc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 819 Protein length after deletion = 818 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aat (N) tta (L) agt (S) ccc (P) ccc (P) aag (K) gca (A) tct (S) cat (H) aat (N) tta (L) agt (S) cca (P) agg (R) cat (H) ctc (L) original frameshift length = 39 frameshift length = 39 frameshifted sequence: cca (P) agg (R) cat (H) ctc (L) atc (I) gta (V) gta (V) agc (S) aga (R) gac (D) aca (T) agc (S) aaa (K) gtc (V) tct (S) atg (M) gtg (V) att (I) atg (M) ttt (F) ttg (L) aca (T) cca (P) atc (I) gac (D) atg (M) atg (M) ata (I) ata (I) ggt (G) cag (Q) aca (T) att (I) tta (L) ata (I) ctg (L) gca (A) aca (T) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 38 782 K 819 * 38 large_intestine APC 1 c.2375_2375delA p.K792fs*28 length of cdnaseq = 8532 length of protseq = 2843 2375 2375 A 1 792 2 792 2 a Total no. of codons in cdna seq = 2844 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 819 Protein length after deletion = 818 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cag (Q) aga (R) cac (H) aag (K) aag (K) caa (Q) agt (S) ctc (L) tat (Y) cag (Q) aga (R) cac (H) agc (S) aaa (K) gtc (V) tct (S) original frameshift length = 28 frameshift length = 28 frameshifted sequence: agc (S) aaa (K) gtc (V) tct (S) atg (M) gtg (V) att (I) atg (M) ttt (F) ttg (L) aca (T) cca (P) atc (I) gac (D) atg (M) atg (M) ata (I) ata (I) ggt (G) cag (Q) aca (T) att (I) tta (L) ata (I) ctg (L) gca (A) aca (T) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 28 792 K 819 * 28 large_intestine APC 1 c.2403_2403delT p.F801fs*19 length of cdnaseq = 8532 length of protseq = 2843 2403 2403 T 1 801 3 801 3 t Total no. of codons in cdna seq = 2844 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 819 Protein length after deletion = 818 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gat (D) tat (Y) gtt (V) ttt (F) ttt (F) gac (D) acc (T) aat (N) cga (R) gat (D) tat (Y) gtt (V) ttg (L) aca (T) cca (P) atc (I) original frameshift length = 19 frameshift length = 19 frameshifted sequence: ttg (L) aca (T) cca (P) atc (I) gac (D) atg (M) atg (M) ata (I) ata (I) ggt (G) cag (Q) aca (T) att (I) tta (L) ata (I) ctg (L) gca (A) aca (T) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 19 801 F 819 * 19 large_intestine APC 1 c.2548_2555delAGAAGTTT p.R850fs*59 length of cdnaseq = 8532 length of protseq = 2843 2548 2555 AGAAGTTT 8 850 1 852 2 agaagttt Total no. of codons in cdna seq = 2844 aga ttg prev t start t-a end t-g --- --g frameshift deletion length of cdnaseq after deletion = 8524 ter codon is tga at posn 908 Protein length after deletion = 907 Total no. of codons in del cdnaseq = 2842 last codon in array is a gaa (E) aaa (K) gat (D) aga (R) ttg (L) gag (E) aga (R) gaa (E) cgc (R) gaa (E) aaa (K) gat (D) gga (G) gag (E) aga (R) acg (T) original frameshift length = 59 frameshift length = 59 frameshifted sequence: gga (G) gag (E) aga (R) acg (T) cgg (R) aat (N) tgg (W) tct (S) agg (R) caa (Q) cta (L) cca (P) tcc (S) agc (S) aac (N) aga (R) aaa (K) tcc (S) agg (R) aac (N) ttc (F) ttc (F) aaa (K) gcg (A) agg (R) ttt (F) gca (A) gat (D) ctc (L) cac (H) cac (H) tgc (C) agc (S) cca (P) gat (D) tgc (C) caa (Q) agt (S) cat (H) gga (G) aga (R) agt (S) gtc (V) agc (S) cat (H) tca (S) tac (Y) ctc (L) tca (S) gga (G) aga (R) cag (Q) aag (K) ttc (F) tgg (W) gtc (V) tac (Y) cac (H) tga (TER) wild type sequence in deletion region: aga (R) agt (S) ttg (L) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 59 850 R 908 * 59 large_intestine APC 1 c.2603_2603delA p.N869fs*47 length of cdnaseq = 8532 length of protseq = 2843 2603 2603 A 1 868 2 868 2 a Total no. of codons in cdna seq = 2844 gaa gaa start g-a end a-a g-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 915 Protein length after deletion = 914 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) gca (A) aca (T) gaa (E) gaa (E) aat (N) cca (P) gga (G) act (T) cca (P) gca (A) aca (T) gaa (E) atc (I) cag (Q) gaa (E) original frameshift length = 48 frameshift length = 48 frameshifted sequence: gaa (E) atc (I) cag (Q) gaa (E) ctt (L) ctt (L) caa (Q) agc (S) gag (E) gtt (V) tgc (C) aga (R) tct (S) cca (P) cca (P) ctg (L) cag (Q) ccc (P) aga (R) ttg (L) cca (P) aag (K) tca (S) tgg (W) aag (K) aag (K) tgt (C) cag (Q) cca (P) ttc (F) ata (I) cct (P) ctc (L) agg (R) aag (K) aca (T) gaa (E) gtt (V) ctg (L) ggt (G) cta (L) cca (P) ctg (L) aat (N) tac (Y) att (I) gtg (V) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 47 869 N 915 * 47 large_intestine APC 1 c.2723_2726delCTAC p.T909fs*6 length of cdnaseq = 8532 length of protseq = 2843 2723 2726 CTAC 4 908 2 909 2 ctac Total no. of codons in cdna seq = 2844 tct acc start t-c end c-c t-- --c frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tga at posn 914 Protein length after deletion = 913 Total no. of codons in del cdnaseq = 2843 last codon in array is aa agt (S) tct (S) ggg (G) tct (S) acc (T) act (T) gaa (E) tta (L) cat (H) agt (S) tct (S) ggg (G) tca (S) ctg (L) aat (N) tac (Y) original frameshift length = 7 frameshift length = 7 frameshifted sequence: tca (S) ctg (L) aat (N) tac (Y) att (I) gtg (V) tga (TER) wild type sequence in deletion region: tct (S) acc (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tct (S) tca (S) first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 6 909 T 914 * 6 large_intestine APC 1 c.2744_2744delT p.V915fs*40 length of cdnaseq = 8532 length of protseq = 2843 2744 2744 T 1 915 2 915 2 t Total no. of codons in cdna seq = 2844 gtg gtg start g-t end t-g g-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 954 Protein length after deletion = 953 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tta (L) cat (H) tgt (C) gtg (V) gtg (V) aca (T) gat (D) gag (E) aga (R) tta (L) cat (H) tgt (C) gga (G) cag (Q) atg (M) aga (R) original frameshift length = 40 frameshift length = 40 frameshifted sequence: gga (G) cag (Q) atg (M) aga (R) gaa (E) atg (M) cac (H) tta (L) gaa (E) gaa (E) gct (A) ctg (L) ctg (L) ccc (P) ata (I) cac (H) att (I) caa (Q) aca (T) ctt (L) aca (T) att (I) tca (S) cta (L) agt (S) cgg (R) aaa (K) att (I) caa (Q) ata (I) gga (G) cat (H) gtt (V) cta (L) tgc (C) ctt (L) atg (M) cca (P) aat (N) tag (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 40 915 V 954 * 40 large_intestine APC 1 c.2750_2750delA p.D917fs*38 length of cdnaseq = 8532 length of protseq = 2843 2750 2750 A 1 917 2 917 2 a Total no. of codons in cdna seq = 2844 gat gat start g-a end a-t g-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 954 Protein length after deletion = 953 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tgt (C) gtg (V) aca (T) gat (D) gat (D) gag (E) aga (R) aat (N) gca (A) tgt (C) gtg (V) aca (T) gtg (V) aga (R) gaa (E) atg (M) original frameshift length = 38 frameshift length = 38 frameshifted sequence: gtg (V) aga (R) gaa (E) atg (M) cac (H) tta (L) gaa (E) gaa (E) gct (A) ctg (L) ctg (L) ccc (P) ata (I) cac (H) att (I) caa (Q) aca (T) ctt (L) aca (T) att (I) tca (S) cta (L) agt (S) cgg (R) aaa (K) att (I) caa (Q) ata (I) gga (G) cat (H) gtt (V) cta (L) tgc (C) ctt (L) atg (M) cca (P) aat (N) tag (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 38 917 D 954 * 38 large_intestine APC 1 c.2886_2887delTA p.D962fs*4 length of cdnaseq = 8532 length of protseq = 2843 2886 2887 TA 2 962 3 963 1 ta Total no. of codons in cdna seq = 2844 gat agt start a-t end a-g ga- -gt frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 965 Protein length after deletion = 964 Total no. of codons in del cdnaseq = 2844 last codon in array is a tct (S) tca (S) aat (N) gat (D) agt (S) tta (L) aat (N) agt (S) gtc (V) tct (S) tca (S) aat (N) gag (E) ttt (F) aaa (K) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gag (E) ttt (F) aaa (K) tag (TER) wild type sequence in deletion region: gat (D) agt (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 4 962 D 965 * 4 large_intestine APC 1 c.2895_2895delT p.N965fs*15 length of cdnaseq = 8532 length of protseq = 2843 2895 2895 T 1 965 3 965 3 t Total no. of codons in cdna seq = 2844 aat aat start a-t post a end t-a aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 979 Protein length after deletion = 978 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gat (D) agt (S) tta (L) aat (N) aat (N) agt (S) gtc (V) agt (S) agt (S) gat (D) agt (S) tta (L) aaa (K) gtg (V) tca (S) gta (V) original frameshift length = 15 frameshift length = 15 frameshifted sequence: aaa (K) gtg (V) tca (S) gta (V) gta (V) gtg (V) atg (M) gtt (V) atg (M) gta (V) aaa (K) gag (E) gtc (V) aaa (K) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 15 965 N 979 * 15 large_intestine APC 1 c.2952_2952delA p.E984fs*21 length of cdnaseq = 8532 length of protseq = 2843 2952 2952 A 1 984 3 984 3 a Total no. of codons in cdna seq = 2844 gaa gaa start a-a post t end a-t ga- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1004 Protein length after deletion = 1003 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ccc (P) tcg (S) att (I) gaa (E) gaa (E) tcc (S) tat (Y) tct (S) gaa (E) ccc (P) tcg (S) att (I) gat (D) cct (P) att (I) ctg (L) original frameshift length = 21 frameshift length = 21 frameshifted sequence: gat (D) cct (P) att (I) ctg (L) aag (K) atg (M) atg (M) aaa (K) gta (V) agt (S) ttt (F) gca (A) gtt (V) atg (M) gtc (V) aat (N) acc (T) cag (Q) ccg (P) acc (T) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 21 984 E 1004 * 21 large_intestine APC 1 c.2973_2973delA p.S992fs*13 length of cdnaseq = 8532 length of protseq = 2843 2973 2973 A 1 991 3 991 3 a Total no. of codons in cdna seq = 2844 gaa gaa start a-a post a end a-a ga- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1004 Protein length after deletion = 1003 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gaa (E) gat (D) gat (D) gaa (E) gaa (E) agt (S) aag (K) ttt (F) tgc (C) gaa (E) gat (D) gat (D) gaa (E) gta (V) agt (S) ttt (F) original frameshift length = 14 frameshift length = 14 frameshifted sequence: gaa (E) gta (V) agt (S) ttt (F) gca (A) gtt (V) atg (M) gtc (V) aat (N) acc (T) cag (Q) ccg (P) acc (T) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 13 992 S 1004 * 13 large_intestine APC 1 c.2977_2980delAAGT p.K993fs*11 length of cdnaseq = 8532 length of protseq = 2843 2977 2980 AAGT 4 993 1 994 1 aagt Total no. of codons in cdna seq = 2844 aag ttt prev t start t-a end t-t --- -tt frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tag at posn 1003 Protein length after deletion = 1002 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gat (D) gaa (E) agt (S) aag (K) ttt (F) tgc (C) agt (S) tat (Y) ggt (G) gat (D) gaa (E) agt (S) ttt (F) gca (A) gtt (V) atg (M) original frameshift length = 11 frameshift length = 11 frameshifted sequence: ttt (F) gca (A) gtt (V) atg (M) gtc (V) aat (N) acc (T) cag (Q) ccg (P) acc (T) tag (TER) wild type sequence in deletion region: aag (K) ttt (F) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 11 993 K 1003 * 11 large_intestine APC 1 c.3202_3205delTCAA p.S1068fs*57 length of cdnaseq = 8532 length of protseq = 2843 3202 3205 TCAA 4 1068 1 1069 1 tcaa Total no. of codons in cdna seq = 2844 tca agg prev a start a-t end a-g --- -gg frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1124 Protein length after deletion = 1123 Total no. of codons in del cdnaseq = 2843 last codon in array is aa caa (Q) aga (R) caa (Q) tca (S) agg (R) aat (N) caa (Q) agt (S) aca (T) caa (Q) aga (R) caa (Q) gga (G) atc (I) aaa (K) gta (V) original frameshift length = 57 frameshift length = 57 frameshifted sequence: gga (G) atc (I) aaa (K) gta (V) caa (Q) ctt (L) atc (I) ctg (L) ttt (F) ata (I) ctg (L) aga (R) gca (A) ctg (L) atg (M) ata (I) aac (N) acc (T) tca (S) agt (S) tcc (S) aac (N) cac (H) att (I) ttg (L) gac (D) agc (S) agg (R) aat (N) gtg (V) ttt (F) ctc (L) cat (H) aca (T) ggt (G) cac (H) ggg (G) gag (E) cca (P) atg (M) gtt (V) cag (Q) aaa (K) caa (Q) atc (I) gag (E) tgg (W) gtt (V) cta (L) atc (I) atg (M) gaa (E) tta (L) atc (I) aaa (K) atg (M) taa (TER) wild type sequence in deletion region: tca (S) agg (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 57 1068 S 1124 * 57 large_intestine APC 1 c.3266delT p.F1089fs*37 length of cdnaseq = 8532 length of protseq = 2843 3266 3266 T 1 1089 2 1089 2 t Total no. of codons in cdna seq = 2844 ttc ttc start t-t end t-c t-- --c frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1125 Protein length after deletion = 1124 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cac (H) ctc (L) aag (K) ttc (F) ttc (F) caa (Q) cca (P) cat (H) ttt (F) cac (H) ctc (L) aag (K) tcc (S) aac (N) cac (H) att (I) original frameshift length = 37 frameshift length = 37 frameshifted sequence: tcc (S) aac (N) cac (H) att (I) ttg (L) gac (D) agc (S) agg (R) aat (N) gtg (V) ttt (F) ctc (L) cat (H) aca (T) ggt (G) cac (H) ggg (G) gag (E) cca (P) atg (M) gtt (V) cag (Q) aaa (K) caa (Q) atc (I) gag (E) tgg (W) gtt (V) cta (L) atc (I) atg (M) gaa (E) tta (L) atc (I) aaa (K) atg (M) taa (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 37 1089 F 1125 * 37 large_intestine APC 1 c.3533_3533delA p.D1178fs*4 length of cdnaseq = 8532 length of protseq = 2843 3533 3533 A 1 1178 2 1178 2 a Total no. of codons in cdna seq = 2844 gat gat start g-a end a-t g-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1181 Protein length after deletion = 1180 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cag (Q) cct (P) att (I) gat (D) gat (D) tat (Y) agt (S) tta (L) aaa (K) cag (Q) cct (P) att (I) gtt (V) ata (I) gtt (V) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gtt (V) ata (I) gtt (V) taa (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 4 1178 D 1181 * 4 large_intestine APC 1 c.3554_3555delCA p.T1185fs*22 length of cdnaseq = 8532 length of protseq = 2843 3554 3555 CA 2 1185 2 1185 3 ca Total no. of codons in cdna seq = 2844 aca aca start a-c post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 2844 last codon in array is a aaa (K) tat (Y) gcc (A) aca (T) aca (T) gat (D) att (I) cct (P) tca (S) aaa (K) tat (Y) gcc (A) aga (R) tat (Y) tcc (S) ttc (F) original frameshift length = 22 frameshift length = 22 frameshifted sequence: aga (R) tat (Y) tcc (S) ttc (F) atc (I) aca (T) gaa (E) aca (T) gtc (V) att (I) ttc (F) att (I) ctc (L) aaa (K) gag (E) ttc (F) atc (I) tgg (W) aca (T) aag (K) cag (Q) taa (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 22 1185 T 1206 * 22 large_intestine APC 1 c.3591_3591delC p.S1198fs*67 length of cdnaseq = 8532 length of protseq = 2843 3591 3591 C 1 1197 3 1197 3 c Total no. of codons in cdna seq = 2844 ttc ttc start t-c post t end c-t tt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1264 Protein length after deletion = 1263 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tca (S) ttt (F) tca (S) ttc (F) ttc (F) tca (S) aag (K) agt (S) tca (S) tca (S) ttt (F) tca (S) ttt (F) caa (Q) aga (R) gtt (V) original frameshift length = 68 frameshift length = 68 frameshifted sequence: ttt (F) caa (Q) aga (R) gtt (V) cat (H) ctg (L) gac (D) aaa (K) gca (A) gta (V) aaa (K) ccg (P) aac (N) ata (I) tgt (C) ctt (L) caa (Q) gca (A) gtg (V) aga (R) ata (I) cgt (R) cca (P) cac (H) ctt (L) cat (H) cta (L) atg (M) cca (P) aga (R) ggc (G) aga (R) atc (I) agc (S) tcc (S) atc (I) caa (Q) gtt (V) ctg (L) cac (H) aga (R) gta (V) gaa (E) gtg (V) gtc (V) agc (S) ctc (L) aaa (K) agg (R) ctg (L) cca (P) ctt (L) gca (A) aag (K) ttt (F) ctt (L) cta (L) tta (L) acc (T) aag (K) aaa (K) caa (Q) tac (Y) aga (R) ctt (L) att (I) gtg (V) tag (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttc (F) ttt (F) first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 67 1198 S 1264 * 67 large_intestine APC 1 c.3621_3621delA p.T1208fs*57 length of cdnaseq = 8532 length of protseq = 2843 3621 3621 A 1 1207 3 1207 3 a Total no. of codons in cdna seq = 2844 aaa aaa start a-a post a end a-a aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1264 Protein length after deletion = 1263 Total no. of codons in del cdnaseq = 2844 last codon in array is aa caa (Q) agc (S) agt (S) aaa (K) aaa (K) acc (T) gaa (E) cat (H) atg (M) caa (Q) agc (S) agt (S) aaa (K) ccg (P) aac (N) ata (I) original frameshift length = 58 frameshift length = 58 frameshifted sequence: aaa (K) ccg (P) aac (N) ata (I) tgt (C) ctt (L) caa (Q) gca (A) gtg (V) aga (R) ata (I) cgt (R) cca (P) cac (H) ctt (L) cat (H) cta (L) atg (M) cca (P) aga (R) ggc (G) aga (R) atc (I) agc (S) tcc (S) atc (I) caa (Q) gtt (V) ctg (L) cac (H) aga (R) gta (V) gaa (E) gtg (V) gtc (V) agc (S) ctc (L) aaa (K) agg (R) ctg (L) cca (P) ctt (L) gca (A) aag (K) ttt (F) ctt (L) cta (L) tta (L) acc (T) aag (K) aaa (K) caa (Q) tac (Y) aga (R) ctt (L) att (I) gtg (V) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 57 1208 T 1264 * 57 large_intestine APC 1 c.3709_3710delCA p.Q1237fs*2 length of cdnaseq = 8532 length of protseq = 2843 3709 3710 CA 2 1237 1 1237 2 ca Total no. of codons in cdna seq = 2844 cag cag prev a start a-c end a-g --- --g frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1238 Protein length after deletion = 1237 Total no. of codons in del cdnaseq = 2844 last codon in array is a agt (S) tct (S) gca (A) cag (Q) cag (Q) agt (S) aga (R) agt (S) ggt (G) agt (S) tct (S) gca (A) gag (E) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gag (E) tag (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 2 1237 Q 1238 * 2 large_intestine APC 1 c.3712_3713delAG p.S1238fs*1 length of cdnaseq = 8532 length of protseq = 2843 3712 3713 AG 2 1238 1 1238 2 ag Total no. of codons in cdna seq = 2844 agt agt prev g start g-a end g-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1238 Protein length after deletion = 1237 Total no. of codons in del cdnaseq = 2844 last codon in array is a tct (S) gca (A) cag (Q) agt (S) agt (S) aga (R) agt (S) ggt (G) cag (Q) tct (S) gca (A) cag (Q) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 1 1238 S 1238 * 1 large_intestine APC 1 c.3734_3734delA p.K1245fs*20 length of cdnaseq = 8532 length of protseq = 2843 3734 3734 A 1 1245 2 1245 2 a Total no. of codons in cdna seq = 2844 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1264 Protein length after deletion = 1263 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cag (Q) cct (P) caa (Q) aag (K) aag (K) gct (A) gcc (A) act (T) tgc (C) cag (Q) cct (P) caa (Q) agg (R) ctg (L) cca (P) ctt (L) original frameshift length = 20 frameshift length = 20 frameshifted sequence: agg (R) ctg (L) cca (P) ctt (L) gca (A) aag (K) ttt (F) ctt (L) cta (L) tta (L) acc (T) aag (K) aaa (K) caa (Q) tac (Y) aga (R) ctt (L) att (I) gtg (V) tag (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 20 1245 K 1264 * 20 large_intestine APC 1 c.3737_3738delCT p.A1246fs*9 length of cdnaseq = 8532 length of protseq = 2843 3737 3738 CT 2 1246 2 1246 3 ct Total no. of codons in cdna seq = 2844 gct gct start g-c post g end t-g g-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1254 Protein length after deletion = 1253 Total no. of codons in del cdnaseq = 2844 last codon in array is a cct (P) caa (Q) aag (K) gct (A) gct (A) gcc (A) act (T) tgc (C) aaa (K) cct (P) caa (Q) aag (K) ggc (G) cac (H) ttg (L) caa (Q) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ggc (G) cac (H) ttg (L) caa (Q) agt (S) ttc (F) ttc (F) tat (Y) taa (TER) wild type sequence in deletion region: gct (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 9 1246 A 1254 * 9 large_intestine APC 1 c.3775_3776delAT p.I1259fs*16 length of cdnaseq = 8532 length of protseq = 2843 3775 3776 AT 2 1259 1 1259 2 at Total no. of codons in cdna seq = 2844 ata ata prev a start a-a end t-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1274 Protein length after deletion = 1273 Total no. of codons in del cdnaseq = 2844 last codon in array is a caa (Q) gaa (E) aca (T) ata (I) ata (I) cag (Q) act (T) tat (Y) tgt (C) caa (Q) gaa (E) aca (T) aca (T) gac (D) tta (L) ttg (L) original frameshift length = 16 frameshift length = 16 frameshifted sequence: aca (T) gac (D) tta (L) ttg (L) tgt (C) aga (R) aga (R) tac (Y) tcc (S) aat (N) atg (M) ttt (F) ttc (F) aag (K) atg (M) tag (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 16 1259 I 1274 * 16 large_intestine APC 1 c.3792_3792delA p.E1265fs*23 length of cdnaseq = 8532 length of protseq = 2843 3792 3792 A 1 1264 3 1264 3 a Total no. of codons in cdna seq = 2844 gta gta start t-a post g end a-g gt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1287 Protein length after deletion = 1286 Total no. of codons in del cdnaseq = 2844 last codon in array is aa act (T) tat (Y) tgt (C) gta (V) gta (V) gaa (E) gat (D) act (T) cca (P) act (T) tat (Y) tgt (C) gtg (V) aag (K) ata (I) ctc (L) original frameshift length = 24 frameshift length = 24 frameshifted sequence: gtg (V) aag (K) ata (I) ctc (L) caa (Q) tat (Y) gtt (V) ttt (F) caa (Q) gat (D) gta (V) gtt (V) cat (H) tat (Y) cat (H) ctt (L) tgt (C) cat (H) cag (Q) ctg (L) aag (K) atg (M) aaa (K) tag (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gta (V) gtg (V) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 23 1265 E 1287 * 23 large_intestine APC 1 c.3806_3807delTA p.I1269fs*6 length of cdnaseq = 8532 length of protseq = 2843 3806 3807 TA 2 1269 2 1269 3 ta Total no. of codons in cdna seq = 2844 ata ata start a-t post t end a-t a-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1274 Protein length after deletion = 1273 Total no. of codons in del cdnaseq = 2844 last codon in array is a gat (D) act (T) cca (P) ata (I) ata (I) tgt (C) ttt (F) tca (S) aga (R) gat (D) act (T) cca (P) atg (M) ttt (F) ttc (F) aag (K) original frameshift length = 6 frameshift length = 6 frameshifted sequence: atg (M) ttt (F) ttc (F) aag (K) atg (M) tag (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 6 1269 I 1274 * 6 large_intestine APC 1 c.3810_3810delT p.S1272fs*16 length of cdnaseq = 8532 length of protseq = 2843 3810 3810 T 1 1270 3 1270 3 t Total no. of codons in cdna seq = 2844 tgt tgt start g-t post t end t-t tg- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1287 Protein length after deletion = 1286 Total no. of codons in del cdnaseq = 2844 last codon in array is aa act (T) cca (P) ata (I) tgt (C) tgt (C) ttt (F) tca (S) aga (R) tgt (C) act (T) cca (P) ata (I) tgt (C) ttt (F) caa (Q) gat (D) original frameshift length = 18 frameshift length = 18 frameshifted sequence: tgt (C) ttt (F) caa (Q) gat (D) gta (V) gtt (V) cat (H) tat (Y) cat (H) ctt (L) tgt (C) cat (H) cag (Q) ctg (L) aag (K) atg (M) aaa (K) tag (TER) wild type sequence in deletion region: tgt (C) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tgt (C) tgt (C) matching aa in delstart region of wt and deletion mutant: ttt (F) ttt (F) first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 16 1272 S 1287 * 16 large_intestine APC 1 c.3822_3822delT p.C1274fs*1 length of cdnaseq = 8532 length of protseq = 2843 3822 3822 T 1 1274 3 1274 3 t Total no. of codons in cdna seq = 2844 tgt tgt start g-t post a end t-a tg- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1274 Protein length after deletion = 1273 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ttt (F) tca (S) aga (R) tgt (C) tgt (C) agt (S) tca (S) tta (L) tca (S) ttt (F) tca (S) aga (R) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tgt (C) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 1 1274 C 1274 * 1 large_intestine APC 1 c.3849_3849delT p.E1284fs*4 length of cdnaseq = 8532 length of protseq = 2843 3849 3849 T 1 1283 3 1283 3 t Total no. of codons in cdna seq = 2844 gct gct start c-t post g end t-g gc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1287 Protein length after deletion = 1286 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ttg (L) tca (S) tca (S) gct (A) gct (A) gaa (E) gat (D) gaa (E) ata (I) ttg (L) tca (S) tca (S) gcg (A) aag (K) atg (M) aaa (K) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gcg (A) aag (K) atg (M) aaa (K) tag (TER) wild type sequence in deletion region: gct (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gct (A) gcg (A) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 4 1284 E 1287 * 4 large_intestine APC 1 c.3850_3851delGA p.E1284fs*2 length of cdnaseq = 8532 length of protseq = 2843 3850 3851 GA 2 1284 1 1284 2 ga Total no. of codons in cdna seq = 2844 gaa gaa prev t start t-g end a-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1285 Protein length after deletion = 1284 Total no. of codons in del cdnaseq = 2844 last codon in array is a tca (S) tca (S) gct (A) gaa (E) gaa (E) gat (D) gaa (E) ata (I) gga (G) tca (S) tca (S) gct (A) aga (R) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aga (R) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 2 1284 E 1285 * 2 large_intestine APC 1 c.3857_3857delA p.I1287fs*1 length of cdnaseq = 8532 length of protseq = 2843 3857 3857 A 1 1286 2 1286 2 a Total no. of codons in cdna seq = 2844 gaa gaa start g-a end a-a g-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1287 Protein length after deletion = 1286 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) gaa (E) gat (D) gaa (E) gaa (E) ata (I) gga (G) tgt (C) aat (N) gct (A) gaa (E) gat (D) gaa (E) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gaa (E) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 1 1287 I 1287 * 1 large_intestine APC 1 c.3859_3859delA p.I1287fs*1 length of cdnaseq = 8532 length of protseq = 2843 3859 3859 A 1 1287 1 1287 1 a Total no. of codons in cdna seq = 2844 ata ata prev a start a-a end a-t --- -ta frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1287 Protein length after deletion = 1286 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gaa (E) gat (D) gaa (E) ata (I) ata (I) gga (G) tgt (C) aat (N) cag (Q) gaa (E) gat (D) gaa (E) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 1 1287 I 1287 * 1 large_intestine APC 1 c.3859_3860delAT p.I1287fs*3 length of cdnaseq = 8532 length of protseq = 2843 3859 3860 AT 2 1287 1 1287 2 at Total no. of codons in cdna seq = 2844 ata ata prev a start a-a end t-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1289 Protein length after deletion = 1288 Total no. of codons in del cdnaseq = 2844 last codon in array is a gaa (E) gat (D) gaa (E) ata (I) ata (I) gga (G) tgt (C) aat (N) cag (Q) gaa (E) gat (D) gaa (E) agg (R) atg (M) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: agg (R) atg (M) taa (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 3 1287 I 1289 * 3 large_intestine APC 1 c.3860_3860delT p.I1287fs*18 length of cdnaseq = 8532 length of protseq = 2843 3860 3860 T 1 1287 2 1287 2 t Total no. of codons in cdna seq = 2844 ata ata start a-t end t-a a-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gaa (E) gat (D) gaa (E) ata (I) ata (I) gga (G) tgt (C) aat (N) cag (Q) gaa (E) gat (D) gaa (E) aag (K) gat (D) gta (V) atc (I) original frameshift length = 18 frameshift length = 18 frameshifted sequence: aag (K) gat (D) gta (V) atc (I) aga (R) cga (R) cac (H) agg (R) aag (K) cag (Q) att (I) ctg (L) cta (L) ata (I) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 18 1287 I 1304 * 18 large_intestine APC 1 c.3861_3862delAG p.I1287fs*3 length of cdnaseq = 8532 length of protseq = 2843 3861 3862 AG 2 1287 3 1288 1 ag Total no. of codons in cdna seq = 2844 ata gga start t-a end g-g at- -ga frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1289 Protein length after deletion = 1288 Total no. of codons in del cdnaseq = 2844 last codon in array is a gaa (E) gat (D) gaa (E) ata (I) gga (G) tgt (C) aat (N) cag (Q) acg (T) gaa (E) gat (D) gaa (E) atg (M) atg (M) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: atg (M) atg (M) taa (TER) wild type sequence in deletion region: ata (I) gga (G) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 3 1287 I 1289 * 3 large_intestine APC 1 c.3863_3863delG p.G1288fs*17 length of cdnaseq = 8532 length of protseq = 2843 3863 3863 G 1 1288 2 1288 2 g Total no. of codons in cdna seq = 2844 gga gga start g-g end g-a g-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gat (D) gaa (E) ata (I) gga (G) gga (G) tgt (C) aat (N) cag (Q) acg (T) gat (D) gaa (E) ata (I) gat (D) gta (V) atc (I) aga (R) original frameshift length = 17 frameshift length = 17 frameshifted sequence: gat (D) gta (V) atc (I) aga (R) cga (R) cac (H) agg (R) aag (K) cag (Q) att (I) ctg (L) cta (L) ata (I) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 17 1288 G 1304 * 17 large_intestine APC 1 c.3864_3864delA p.C1289fs*16 length of cdnaseq = 8532 length of protseq = 2843 3864 3864 A 1 1288 3 1288 3 a Total no. of codons in cdna seq = 2844 gga gga start g-a post t end a-t gg- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gat (D) gaa (E) ata (I) gga (G) gga (G) tgt (C) aat (N) cag (Q) acg (T) gat (D) gaa (E) ata (I) ggt (G) gta (V) atc (I) aga (R) original frameshift length = 17 frameshift length = 17 frameshifted sequence: ggt (G) gta (V) atc (I) aga (R) cga (R) cac (H) agg (R) aag (K) cag (Q) att (I) ctg (L) cta (L) ata (I) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gga (G) ggt (G) first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 16 1289 C 1304 * 16 large_intestine APC 1 c.3871_3872delCA p.Q1291fs*9 length of cdnaseq = 8532 length of protseq = 2843 3871 3872 CA 2 1291 1 1291 2 ca Total no. of codons in cdna seq = 2844 cag cag prev t start t-c end a-g --- --g frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1299 Protein length after deletion = 1298 Total no. of codons in del cdnaseq = 2844 last codon in array is a gga (G) tgt (C) aat (N) cag (Q) cag (Q) acg (T) aca (T) cag (Q) gaa (E) gga (G) tgt (C) aat (N) gac (D) gac (D) aca (T) gga (G) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gac (D) gac (D) aca (T) gga (G) agc (S) aga (R) ttc (F) tgc (C) taa (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 9 1291 Q 1299 * 9 large_intestine APC 1 c.3877_3878delAC p.Q1294fs*6 length of cdnaseq = 8532 length of protseq = 2843 3877 3878 AC 2 1293 1 1293 2 ac Total no. of codons in cdna seq = 2844 aca aca prev g start g-a end c-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1299 Protein length after deletion = 1298 Total no. of codons in del cdnaseq = 2844 last codon in array is a aat (N) cag (Q) acg (T) aca (T) aca (T) cag (Q) gaa (E) gca (A) gat (D) aat (N) cag (Q) acg (T) aca (T) gga (G) agc (S) aga (R) original frameshift length = 7 frameshift length = 7 frameshifted sequence: aca (T) gga (G) agc (S) aga (R) ttc (F) tgc (C) taa (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aca (T) aca (T) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 6 1294 Q 1299 * 6 large_intestine APC 1 c.3877_3907del31 p.T1293fs*2 length of cdnaseq = 8532 length of protseq = 2843 3877 3907 31 31 1293 1 1303 1 acacaggaagcagattctgctaataccctgc Total no. of codons in cdna seq = 2844 aca caa prev g start g-a end c-a --- -aa frameshift deletion length of cdnaseq after deletion = 8501 ter codon is tag at posn 1294 Protein length after deletion = 1293 Total no. of codons in del cdnaseq = 2834 last codon in array is aa aat (N) cag (Q) acg (T) aca (T) caa (Q) ata (I) gca (A) gaa (E) ata (I) aat (N) cag (Q) acg (T) aaa (K) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aaa (K) tag (TER) wild type sequence in deletion region: aca (T) cag (Q) gaa (E) gca (A) gat (D) tct (S) gct (A) aat (N) acc (T) ctg (L) caa (Q) wt frameshift deln region length = 11 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 2 1293 T 1294 * 2 large_intestine APC 1 c.3880_3881delCA p.Q1294fs*6 length of cdnaseq = 8532 length of protseq = 2843 3880 3881 CA 2 1294 1 1294 2 ca Total no. of codons in cdna seq = 2844 cag cag prev a start a-c end a-g --- --g frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1299 Protein length after deletion = 1298 Total no. of codons in del cdnaseq = 2844 last codon in array is a cag (Q) acg (T) aca (T) cag (Q) cag (Q) gaa (E) gca (A) gat (D) tct (S) cag (Q) acg (T) aca (T) gga (G) agc (S) aga (R) ttc (F) original frameshift length = 6 frameshift length = 6 frameshifted sequence: gga (G) agc (S) aga (R) ttc (F) tgc (C) taa (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 6 1294 Q 1299 * 6 large_intestine APC 1 c.3881_3881delA p.Q1294fs*11 length of cdnaseq = 8532 length of protseq = 2843 3881 3881 A 1 1294 2 1294 2 a Total no. of codons in cdna seq = 2844 cag cag start c-a end a-g c-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cag (Q) acg (T) aca (T) cag (Q) cag (Q) gaa (E) gca (A) gat (D) tct (S) cag (Q) acg (T) aca (T) cgg (R) aag (K) cag (Q) att (I) original frameshift length = 11 frameshift length = 11 frameshifted sequence: cgg (R) aag (K) cag (Q) att (I) ctg (L) cta (L) ata (I) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 11 1294 Q 1304 * 11 large_intestine APC 1 c.3882_3882delG p.E1295fs*10 length of cdnaseq = 8532 length of protseq = 2843 3882 3882 G 1 1294 3 1294 3 g Total no. of codons in cdna seq = 2844 cag cag start a-g post g end g-g ca- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cag (Q) acg (T) aca (T) cag (Q) cag (Q) gaa (E) gca (A) gat (D) tct (S) cag (Q) acg (T) aca (T) cag (Q) aag (K) cag (Q) att (I) original frameshift length = 11 frameshift length = 11 frameshifted sequence: cag (Q) aag (K) cag (Q) att (I) ctg (L) cta (L) ata (I) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cag (Q) cag (Q) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 10 1295 E 1304 * 10 large_intestine APC 1 c.3885_3885delA p.A1296fs*9 length of cdnaseq = 8532 length of protseq = 2843 3885 3885 A 1 1295 3 1295 3 a Total no. of codons in cdna seq = 2844 gaa gaa start a-a post g end a-g ga- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa acg (T) aca (T) cag (Q) gaa (E) gaa (E) gca (A) gat (D) tct (S) gct (A) acg (T) aca (T) cag (Q) gag (E) cag (Q) att (I) ctg (L) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gag (E) cag (Q) att (I) ctg (L) cta (L) ata (I) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gag (E) first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 9 1296 A 1304 * 9 large_intestine APC 1 c.3887_3887delC p.A1296fs*9 length of cdnaseq = 8532 length of protseq = 2843 3887 3887 C 1 1296 2 1296 2 c Total no. of codons in cdna seq = 2844 gca gca start g-c end c-a g-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aca (T) cag (Q) gaa (E) gca (A) gca (A) gat (D) tct (S) gct (A) aat (N) aca (T) cag (Q) gaa (E) gag (E) att (I) ctg (L) cta (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gag (E) att (I) ctg (L) cta (L) ata (I) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 9 1296 A 1304 * 9 large_intestine APC 1 c.3888_3888delA p.D1297fs*8 length of cdnaseq = 8532 length of protseq = 2843 3888 3888 A 1 1296 3 1296 3 a Total no. of codons in cdna seq = 2844 gca gca start c-a post g end a-g gc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aca (T) cag (Q) gaa (E) gca (A) gca (A) gat (D) tct (S) gct (A) aat (N) aca (T) cag (Q) gaa (E) gcg (A) att (I) ctg (L) cta (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gcg (A) att (I) ctg (L) cta (L) ata (I) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gca (A) gcg (A) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 8 1297 D 1304 * 8 large_intestine APC 1 c.3889_3890delGA p.D1297fs*3 length of cdnaseq = 8532 length of protseq = 2843 3889 3890 GA 2 1297 1 1297 2 ga Total no. of codons in cdna seq = 2844 gat gat prev a start a-g end a-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1299 Protein length after deletion = 1298 Total no. of codons in del cdnaseq = 2844 last codon in array is a cag (Q) gaa (E) gca (A) gat (D) gat (D) tct (S) gct (A) aat (N) acc (T) cag (Q) gaa (E) gca (A) ttc (F) tgc (C) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: ttc (F) tgc (C) taa (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 3 1297 D 1299 * 3 large_intestine APC 1 c.3891_3892delTT p.S1298fs*2 length of cdnaseq = 8532 length of protseq = 2843 3891 3892 TT 2 1297 3 1298 1 tt Total no. of codons in cdna seq = 2844 gat tct start a-t end t-c ga- -ct frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1299 Protein length after deletion = 1298 Total no. of codons in del cdnaseq = 2844 last codon in array is a cag (Q) gaa (E) gca (A) gat (D) tct (S) gct (A) aat (N) acc (T) ctg (L) cag (Q) gaa (E) gca (A) gac (D) tgc (C) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gac (D) tgc (C) taa (TER) wild type sequence in deletion region: gat (D) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gat (D) gac (D) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 2 1298 S 1299 * 2 large_intestine APC 1 c.3893_3896delCTGC p.S1298fs*6 length of cdnaseq = 8532 length of protseq = 2843 3893 3896 CTGC 4 1298 2 1299 2 ctgc Total no. of codons in cdna seq = 2844 tct gct start t-c end c-t t-- --t frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tag at posn 1303 Protein length after deletion = 1302 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gaa (E) gca (A) gat (D) tct (S) gct (A) aat (N) acc (T) ctg (L) caa (Q) gaa (E) gca (A) gat (D) tta (L) ata (I) ccc (P) tgc (C) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tta (L) ata (I) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: tct (S) gct (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 6 1298 S 1303 * 6 large_intestine APC 1 c.3897_3900delTAAT p.N1300fs*4 length of cdnaseq = 8532 length of protseq = 2843 3897 3900 TAAT 4 1299 3 1300 3 taat Total no. of codons in cdna seq = 2844 gct aat start c-t post a end t-a gc- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tag at posn 1303 Protein length after deletion = 1302 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gca (A) gat (D) tct (S) gct (A) aat (N) acc (T) ctg (L) caa (Q) ata (I) gca (A) gat (D) tct (S) gca (A) ccc (P) tgc (C) aaa (K) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gca (A) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: gct (A) aat (N) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gct (A) gca (A) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 4 1300 N 1303 * 4 large_intestine APC 1 c.3897_3907del11 p.T1301fs*10 length of cdnaseq = 8532 length of protseq = 2843 3897 3907 11 11 1299 3 1303 1 taataccctgc Total no. of codons in cdna seq = 2844 gct caa start c-t end c-a gc- -aa frameshift deletion length of cdnaseq after deletion = 8521 ter codon is tag at posn 1310 Protein length after deletion = 1309 Total no. of codons in del cdnaseq = 2841 last codon in array is a gca (A) gat (D) tct (S) gct (A) caa (Q) ata (I) gca (A) gaa (E) ata (I) gca (A) gat (D) tct (S) gca (A) aat (N) agc (S) aga (R) original frameshift length = 12 frameshift length = 12 frameshifted sequence: gca (A) aat (N) agc (S) aga (R) aat (N) aaa (K) aga (R) aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: gct (A) aat (N) acc (T) ctg (L) caa (Q) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: gct (A) gca (A) matching aa in delstart region of wt and deletion mutant: aat (N) aat (N) first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 10 1301 T 1310 * 10 large_intestine APC 1 c.3899_3899delA p.N1300fs*5 length of cdnaseq = 8532 length of protseq = 2843 3899 3899 A 1 1300 2 1300 2 a Total no. of codons in cdna seq = 2844 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gat (D) tct (S) gct (A) aat (N) aat (N) acc (T) ctg (L) caa (Q) ata (I) gat (D) tct (S) gct (A) ata (I) ccc (P) tgc (C) aaa (K) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ata (I) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 5 1300 N 1304 * 5 large_intestine APC 1 c.3903_3903delC p.L1302fs*3 length of cdnaseq = 8532 length of protseq = 2843 3903 3903 C 1 1301 3 1301 3 c Total no. of codons in cdna seq = 2844 acc acc start c-c post c end c-c ac- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tct (S) gct (A) aat (N) acc (T) acc (T) ctg (L) caa (Q) ata (I) gca (A) tct (S) gct (A) aat (N) acc (T) tgc (C) aaa (K) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: acc (T) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acc (T) acc (T) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 3 1302 L 1304 * 3 large_intestine APC 1 c.3904_3904delC p.L1302fs*3 length of cdnaseq = 8532 length of protseq = 2843 3904 3904 C 1 1302 1 1302 1 c Total no. of codons in cdna seq = 2844 ctg ctg prev c start c-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) aat (N) acc (T) ctg (L) ctg (L) caa (Q) ata (I) gca (A) gaa (E) gct (A) aat (N) acc (T) tgc (C) aaa (K) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 3 1302 L 1304 * 3 large_intestine APC 1 c.3904_3908delCTGCA p.L1302fs*11 length of cdnaseq = 8532 length of protseq = 2843 3904 3908 CTGCA 5 1302 1 1303 2 ctgca Total no. of codons in cdna seq = 2844 ctg caa prev c start c-c end a-a --- --a frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a gct (A) aat (N) acc (T) ctg (L) caa (Q) ata (I) gca (A) gaa (E) ata (I) gct (A) aat (N) acc (T) aat (N) agc (S) aga (R) aat (N) original frameshift length = 11 frameshift length = 11 frameshifted sequence: aat (N) agc (S) aga (R) aat (N) aaa (K) aga (R) aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: ctg (L) caa (Q) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 11 1302 L 1312 * 11 large_intestine APC 1 c.3905_3905delT p.L1302fs*3 length of cdnaseq = 8532 length of protseq = 2843 3905 3905 T 1 1302 2 1302 2 t Total no. of codons in cdna seq = 2844 ctg ctg start c-t end t-g c-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) aat (N) acc (T) ctg (L) ctg (L) caa (Q) ata (I) gca (A) gaa (E) gct (A) aat (N) acc (T) cgc (R) aaa (K) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cgc (R) aaa (K) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 3 1302 L 1304 * 3 large_intestine APC 1 c.3905_3909delTGCAA p.L1302fs*11 length of cdnaseq = 8532 length of protseq = 2843 3905 3909 TGCAA 5 1302 2 1303 3 tgcaa Total no. of codons in cdna seq = 2844 ctg caa start c-t post a end a-a c-- --- frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a gct (A) aat (N) acc (T) ctg (L) caa (Q) ata (I) gca (A) gaa (E) ata (I) gct (A) aat (N) acc (T) cat (H) agc (S) aga (R) aat (N) original frameshift length = 11 frameshift length = 11 frameshifted sequence: cat (H) agc (S) aga (R) aat (N) aaa (K) aga (R) aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: ctg (L) caa (Q) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 11 1302 L 1312 * 11 large_intestine APC 1 c.3906_3906delG p.Q1303fs*2 length of cdnaseq = 8532 length of protseq = 2843 3906 3906 G 1 1302 3 1302 3 g Total no. of codons in cdna seq = 2844 ctg ctg start t-g post c end g-c ct- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) aat (N) acc (T) ctg (L) ctg (L) caa (Q) ata (I) gca (A) gaa (E) gct (A) aat (N) acc (T) ctc (L) aaa (K) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: ctc (L) aaa (K) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctg (L) ctc (L) first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 2 1303 Q 1304 * 2 large_intestine APC 1 c.3908_3908delA p.I1304fs*1 length of cdnaseq = 8532 length of protseq = 2843 3908 3908 A 1 1303 2 1303 2 a Total no. of codons in cdna seq = 2844 caa caa start c-a end a-a c-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aat (N) acc (T) ctg (L) caa (Q) caa (Q) ata (I) gca (A) gaa (E) ata (I) aat (N) acc (T) ctg (L) caa (Q) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: caa (Q) tag (TER) wild type sequence in deletion region: caa (Q) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: caa (Q) caa (Q) first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 1 1304 I 1304 * 1 large_intestine APC 1 c.3908_3909delAA p.Q1303fs*11 length of cdnaseq = 8532 length of protseq = 2843 3908 3909 AA 2 1303 2 1303 3 aa Total no. of codons in cdna seq = 2844 caa caa start c-a post a end a-a c-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1313 Protein length after deletion = 1312 Total no. of codons in del cdnaseq = 2844 last codon in array is a aat (N) acc (T) ctg (L) caa (Q) caa (Q) ata (I) gca (A) gaa (E) ata (I) aat (N) acc (T) ctg (L) cat (H) agc (S) aga (R) aat (N) original frameshift length = 11 frameshift length = 11 frameshifted sequence: cat (H) agc (S) aga (R) aat (N) aaa (K) aga (R) aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: caa (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 11 1303 Q 1313 * 11 large_intestine APC 1 c.3910_3911delAT p.I1304fs*10 length of cdnaseq = 8532 length of protseq = 2843 3910 3911 AT 2 1304 1 1304 2 at Total no. of codons in cdna seq = 2844 ata ata prev a start a-a end t-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1313 Protein length after deletion = 1312 Total no. of codons in del cdnaseq = 2844 last codon in array is a acc (T) ctg (L) caa (Q) ata (I) ata (I) gca (A) gaa (E) ata (I) aaa (K) acc (T) ctg (L) caa (Q) agc (S) aga (R) aat (N) aaa (K) original frameshift length = 10 frameshift length = 10 frameshifted sequence: agc (S) aga (R) aat (N) aaa (K) aga (R) aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 10 1304 I 1313 * 10 large_intestine APC 1 c.3911_3911delT p.I1304fs*4 length of cdnaseq = 8532 length of protseq = 2843 3911 3911 T 1 1304 2 1304 2 t Total no. of codons in cdna seq = 2844 ata ata start a-t end t-a a-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1307 Protein length after deletion = 1306 Total no. of codons in del cdnaseq = 2844 last codon in array is aa acc (T) ctg (L) caa (Q) ata (I) ata (I) gca (A) gaa (E) ata (I) aaa (K) acc (T) ctg (L) caa (Q) aag (K) cag (Q) aaa (K) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aag (K) cag (Q) aaa (K) taa (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 4 1304 I 1307 * 4 large_intestine APC 1 c.3912_3912delA p.I1304fs*4 length of cdnaseq = 8532 length of protseq = 2843 3912 3912 A 1 1304 3 1304 3 a Total no. of codons in cdna seq = 2844 ata ata start t-a post g end a-g at- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1307 Protein length after deletion = 1306 Total no. of codons in del cdnaseq = 2844 last codon in array is aa acc (T) ctg (L) caa (Q) ata (I) ata (I) gca (A) gaa (E) ata (I) aaa (K) acc (T) ctg (L) caa (Q) atg (M) cag (Q) aaa (K) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: atg (M) cag (Q) aaa (K) taa (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 4 1304 I 1307 * 4 large_intestine APC 1 c.3914_3914delC p.A1305fs*3 length of cdnaseq = 8532 length of protseq = 2843 3914 3914 C 1 1305 2 1305 2 c Total no. of codons in cdna seq = 2844 gca gca start g-c end c-a g-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1307 Protein length after deletion = 1306 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ctg (L) caa (Q) ata (I) gca (A) gca (A) gaa (E) ata (I) aaa (K) gaa (E) ctg (L) caa (Q) ata (I) gag (E) aaa (K) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gag (E) aaa (K) taa (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 3 1305 A 1307 * 3 large_intestine APC 1 c.3915_3915delA p.E1306fs*2 length of cdnaseq = 8532 length of protseq = 2843 3915 3915 A 1 1305 3 1305 3 a Total no. of codons in cdna seq = 2844 gca gca start c-a post g end a-g gc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1307 Protein length after deletion = 1306 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ctg (L) caa (Q) ata (I) gca (A) gca (A) gaa (E) ata (I) aaa (K) gaa (E) ctg (L) caa (Q) ata (I) gcg (A) aaa (K) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gcg (A) aaa (K) taa (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gca (A) gcg (A) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 2 1306 E 1307 * 2 large_intestine APC 1 c.3916_3917delGA p.E1306fs*8 length of cdnaseq = 8532 length of protseq = 2843 3916 3917 GA 2 1306 1 1306 2 ga Total no. of codons in cdna seq = 2844 gaa gaa prev a start a-g end a-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1313 Protein length after deletion = 1312 Total no. of codons in del cdnaseq = 2844 last codon in array is a caa (Q) ata (I) gca (A) gaa (E) gaa (E) ata (I) aaa (K) gaa (E) aag (K) caa (Q) ata (I) gca (A) aat (N) aaa (K) aga (R) aaa (K) original frameshift length = 8 frameshift length = 8 frameshifted sequence: aat (N) aaa (K) aga (R) aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 8 1306 E 1313 * 8 large_intestine APC 1 c.3920_3924delTAAAA p.I1307fs*6 length of cdnaseq = 8532 length of protseq = 2843 3920 3924 TAAAA 5 1307 2 1308 3 taaaa Total no. of codons in cdna seq = 2844 ata aaa start a-t post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a ata (I) gca (A) gaa (E) ata (I) aaa (K) gaa (E) aag (K) att (I) gga (G) ata (I) gca (A) gaa (E) aga (R) aaa (K) gat (D) tgg (W) original frameshift length = 6 frameshift length = 6 frameshifted sequence: aga (R) aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: ata (I) aaa (K) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 6 1307 I 1312 * 6 large_intestine APC 1 c.3922_3929delAAAGAAAA p.K1308fs*4 length of cdnaseq = 8532 length of protseq = 2843 3922 3929 AAAGAAAA 8 1308 1 1310 2 aaagaaaa Total no. of codons in cdna seq = 2844 aaa aag prev a start a-a end a-g --- --g frameshift deletion length of cdnaseq after deletion = 8524 ter codon is tag at posn 1311 Protein length after deletion = 1310 Total no. of codons in del cdnaseq = 2842 last codon in array is a gca (A) gaa (E) ata (I) aaa (K) aag (K) att (I) gga (G) act (T) agg (R) gca (A) gaa (E) ata (I) gat (D) tgg (W) aac (N) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: aaa (K) gaa (E) aag (K) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 4 1308 K 1311 * 4 large_intestine APC 1 c.3924_3925delAG p.E1309fs*5 length of cdnaseq = 8532 length of protseq = 2843 3924 3925 AG 2 1308 3 1309 1 ag Total no. of codons in cdna seq = 2844 aaa gaa start a-a end g-a aa- -aa frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1313 Protein length after deletion = 1312 Total no. of codons in del cdnaseq = 2844 last codon in array is a gca (A) gaa (E) ata (I) aaa (K) gaa (E) aag (K) att (I) gga (G) act (T) gca (A) gaa (E) ata (I) aaa (K) aaa (K) gat (D) tgg (W) original frameshift length = 6 frameshift length = 6 frameshifted sequence: aaa (K) aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: aaa (K) gaa (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 5 1309 E 1313 * 5 large_intestine APC 1 c.3927_3930delAAAG p.K1310fs*10 length of cdnaseq = 8532 length of protseq = 2843 3927 3930 AAAG 4 1309 3 1310 3 aaag Total no. of codons in cdna seq = 2844 gaa aag start a-a post a end g-a ga- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tga at posn 1319 Protein length after deletion = 1318 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gaa (E) ata (I) aaa (K) gaa (E) aag (K) att (I) gga (G) act (T) agg (R) gaa (E) ata (I) aaa (K) gaa (E) ttg (L) gaa (E) cta (L) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gaa (E) ttg (L) gaa (E) cta (L) ggt (G) cag (Q) ctg (L) aag (K) atc (I) ctg (L) tga (TER) wild type sequence in deletion region: gaa (E) aag (K) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 10 1310 K 1319 * 10 large_intestine APC 1 c.3928_3931delAAGA p.K1310fs*10 length of cdnaseq = 8532 length of protseq = 2843 3928 3931 AAGA 4 1310 1 1311 1 aaga Total no. of codons in cdna seq = 2844 aag att prev a start a-a end a-t --- -tt frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tga at posn 1319 Protein length after deletion = 1318 Total no. of codons in del cdnaseq = 2843 last codon in array is aa ata (I) aaa (K) gaa (E) aag (K) att (I) gga (G) act (T) agg (R) tca (S) ata (I) aaa (K) gaa (E) ttg (L) gaa (E) cta (L) ggt (G) original frameshift length = 10 frameshift length = 10 frameshifted sequence: ttg (L) gaa (E) cta (L) ggt (G) cag (Q) ctg (L) aag (K) atc (I) ctg (L) tga (TER) wild type sequence in deletion region: aag (K) att (I) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 10 1310 K 1319 * 10 large_intestine APC 1 c.3930_3930delG p.I1311fs*10 length of cdnaseq = 8532 length of protseq = 2843 3930 3930 G 1 1310 3 1310 3 g Total no. of codons in cdna seq = 2844 aag aag start a-g post a end g-a aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1320 Protein length after deletion = 1319 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ata (I) aaa (K) gaa (E) aag (K) aag (K) att (I) gga (G) act (T) agg (R) ata (I) aaa (K) gaa (E) aaa (K) ttg (L) gaa (E) cta (L) original frameshift length = 11 frameshift length = 11 frameshifted sequence: aaa (K) ttg (L) gaa (E) cta (L) ggt (G) cag (Q) ctg (L) aag (K) atc (I) ctg (L) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aag (K) aaa (K) first wt aa affected by frameshift deletion is : att (I) final frameshift length = 10 1311 I 1320 * 10 large_intestine APC 1 c.3933_3937delTGGAA p.G1312fs*1 length of cdnaseq = 8532 length of protseq = 2843 3933 3937 TGGAA 5 1311 3 1313 1 tggaa Total no. of codons in cdna seq = 2844 att act start t-t end a-c at- -ct frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a aaa (K) gaa (E) aag (K) att (I) act (T) agg (R) tca (S) gct (A) gaa (E) aaa (K) gaa (E) aag (K) atc (I) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: atc (I) tag (TER) wild type sequence in deletion region: att (I) gga (G) act (T) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: att (I) atc (I) first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 1 1312 G 1312 * 1 large_intestine APC 1 c.3935_3939delGAACT p.G1312fs*4 length of cdnaseq = 8532 length of protseq = 2843 3935 3939 GAACT 5 1312 2 1313 3 gaact Total no. of codons in cdna seq = 2844 gga act start g-g post a end t-a g-- --- frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tga at posn 1315 Protein length after deletion = 1314 Total no. of codons in del cdnaseq = 2843 last codon in array is a gaa (E) aag (K) att (I) gga (G) act (T) agg (R) tca (S) gct (A) gaa (E) gaa (E) aag (K) att (I) gag (E) gtc (V) agc (S) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gag (E) gtc (V) agc (S) tga (TER) wild type sequence in deletion region: gga (G) act (T) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 4 1312 G 1315 * 4 large_intestine APC 1 c.3937_3937delA p.T1313fs*8 length of cdnaseq = 8532 length of protseq = 2843 3937 3937 A 1 1313 1 1313 1 a Total no. of codons in cdna seq = 2844 act act prev a start a-a end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1320 Protein length after deletion = 1319 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aag (K) att (I) gga (G) act (T) act (T) agg (R) tca (S) gct (A) gaa (E) aag (K) att (I) gga (G) cta (L) ggt (G) cag (Q) ctg (L) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cta (L) ggt (G) cag (Q) ctg (L) aag (K) atc (I) ctg (L) tga (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 8 1313 T 1320 * 8 large_intestine APC 1 c.3944_3944delC p.S1315fs*1 length of cdnaseq = 8532 length of protseq = 2843 3944 3944 C 1 1315 2 1315 2 c Total no. of codons in cdna seq = 2844 tca tca start t-c end c-a t-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1315 Protein length after deletion = 1314 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gga (G) act (T) agg (R) tca (S) tca (S) gct (A) gaa (E) gat (D) cct (P) gga (G) act (T) agg (R) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tca (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 1 1315 S 1315 * 1 large_intestine APC 1 c.3945_3964del20 p.A1316fs*9 length of cdnaseq = 8532 length of protseq = 2843 3945 3964 20 20 1315 3 1322 1 agctgaagatcctgtgagcg Total no. of codons in cdna seq = 2844 tca gaa start c-a end g-a tc- -aa frameshift deletion length of cdnaseq after deletion = 8512 ter codon is tag at posn 1324 Protein length after deletion = 1323 Total no. of codons in del cdnaseq = 2838 last codon in array is a gga (G) act (T) agg (R) tca (S) gaa (E) gtt (V) cca (P) gca (A) gtg (V) gga (G) act (T) agg (R) tca (S) agt (S) tcc (S) agc (S) original frameshift length = 10 frameshift length = 10 frameshifted sequence: tca (S) agt (S) tcc (S) agc (S) agt (S) gtc (V) aca (T) gca (A) ccc (P) tag (TER) wild type sequence in deletion region: tca (S) gct (A) gaa (E) gat (D) cct (P) gtg (V) agc (S) gaa (E) wt frameshift deln region length = 8 matching aa in delstart region of wt and deletion mutant: tca (S) tca (S) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 9 1316 A 1324 * 9 large_intestine APC 1 c.3951_3951delA p.D1318fs*3 length of cdnaseq = 8532 length of protseq = 2843 3951 3951 A 1 1317 3 1317 3 a Total no. of codons in cdna seq = 2844 gaa gaa start a-a post g end a-g ga- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1320 Protein length after deletion = 1319 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agg (R) tca (S) gct (A) gaa (E) gaa (E) gat (D) cct (P) gtg (V) agc (S) agg (R) tca (S) gct (A) gag (E) atc (I) ctg (L) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gag (E) atc (I) ctg (L) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gag (E) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 3 1318 D 1320 * 3 large_intestine APC 1 c.3953_3953delA p.D1318fs*3 length of cdnaseq = 8532 length of protseq = 2843 3953 3953 A 1 1318 2 1318 2 a Total no. of codons in cdna seq = 2844 gat gat start g-a end a-t g-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1320 Protein length after deletion = 1319 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tca (S) gct (A) gaa (E) gat (D) gat (D) cct (P) gtg (V) agc (S) gaa (E) tca (S) gct (A) gaa (E) gtc (V) ctg (L) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gtc (V) ctg (L) tga (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 3 1318 D 1320 * 3 large_intestine APC 1 c.3957_3957delT p.V1320fs*1 length of cdnaseq = 8532 length of protseq = 2843 3957 3957 T 1 1319 3 1319 3 t Total no. of codons in cdna seq = 2844 cct cct start c-t post g end t-g cc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1320 Protein length after deletion = 1319 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) gaa (E) gat (D) cct (P) cct (P) gtg (V) agc (S) gaa (E) gtt (V) gct (A) gaa (E) gat (D) ccg (P) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ccg (P) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cct (P) ccg (P) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 1 1320 V 1320 * 1 large_intestine APC 1 c.3958_3968del11 p.V1320fs*8 length of cdnaseq = 8532 length of protseq = 2843 3958 3968 11 11 1320 1 1323 2 gtgagcgaagt Total no. of codons in cdna seq = 2844 gtg gtt prev t start t-g end t-t --- --t frameshift deletion length of cdnaseq after deletion = 8521 ter codon is tag at posn 1327 Protein length after deletion = 1326 Total no. of codons in del cdnaseq = 2841 last codon in array is a gaa (E) gat (D) cct (P) gtg (V) gtt (V) cca (P) gca (A) gtg (V) tca (S) gaa (E) gat (D) cct (P) tcc (S) agc (S) agt (S) gtc (V) original frameshift length = 8 frameshift length = 8 frameshifted sequence: tcc (S) agc (S) agt (S) gtc (V) aca (T) gca (A) ccc (P) tag (TER) wild type sequence in deletion region: gtg (V) agc (S) gaa (E) gtt (V) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 8 1320 V 1327 * 8 large_intestine APC 1 c.3963_3967delCGAAG p.E1322fs*8 length of cdnaseq = 8532 length of protseq = 2843 3963 3967 CGAAG 5 1321 3 1323 1 cgaag Total no. of codons in cdna seq = 2844 agc gtt start g-c end g-t ag- -tt frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1329 Protein length after deletion = 1328 Total no. of codons in del cdnaseq = 2843 last codon in array is a gat (D) cct (P) gtg (V) agc (S) gtt (V) cca (P) gca (A) gtg (V) tca (S) gat (D) cct (P) gtg (V) agt (S) tcc (S) agc (S) agt (S) original frameshift length = 9 frameshift length = 9 frameshifted sequence: agt (S) tcc (S) agc (S) agt (S) gtc (V) aca (T) gca (A) ccc (P) tag (TER) wild type sequence in deletion region: agc (S) gaa (E) gtt (V) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: agc (S) agt (S) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 8 1322 E 1329 * 8 large_intestine APC 1 c.3970_3970delC p.P1324fs*91 length of cdnaseq = 8532 length of protseq = 2843 3970 3970 C 1 1324 1 1324 1 c Total no. of codons in cdna seq = 2844 cca cca prev t start t-c end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agc (S) gaa (E) gtt (V) cca (P) cca (P) gca (A) gtg (V) tca (S) cag (Q) agc (S) gaa (E) gtt (V) cag (Q) cag (Q) tgt (C) cac (H) original frameshift length = 91 frameshift length = 91 frameshifted sequence: cag (Q) cag (Q) tgt (C) cac (H) agc (S) acc (T) cta (L) gaa (E) cca (P) aat (N) cca (P) gca (A) gac (D) tgc (C) agg (R) gtt (V) cta (L) gtt (V) tat (Y) ctt (L) cag (Q) aat (N) cag (Q) cca (P) ggc (G) aca (T) aag (K) ctg (L) ttg (L) aat (N) ttt (F) ctt (L) cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 91 1324 P 1414 * 91 large_intestine APC 1 c.3972_3972delA p.A1325fs*90 length of cdnaseq = 8532 length of protseq = 2843 3972 3972 A 1 1324 3 1324 3 a Total no. of codons in cdna seq = 2844 cca cca start c-a post g end a-g cc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agc (S) gaa (E) gtt (V) cca (P) cca (P) gca (A) gtg (V) tca (S) cag (Q) agc (S) gaa (E) gtt (V) ccg (P) cag (Q) tgt (C) cac (H) original frameshift length = 91 frameshift length = 91 frameshifted sequence: ccg (P) cag (Q) tgt (C) cac (H) agc (S) acc (T) cta (L) gaa (E) cca (P) aat (N) cca (P) gca (A) gac (D) tgc (C) agg (R) gtt (V) cta (L) gtt (V) tat (Y) ctt (L) cag (Q) aat (N) cag (Q) cca (P) ggc (G) aca (T) aag (K) ctg (L) ttg (L) aat (N) ttt (F) ctt (L) cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cca (P) ccg (P) first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 90 1325 A 1414 * 90 large_intestine APC 1 c.3977_4014del38 p.V1326fs*3 length of cdnaseq = 8532 length of protseq = 2843 3977 4014 38 38 1326 2 1338 3 tgtcacagcaccctagaaccaaatccagcagactgcag Total no. of codons in cdna seq = 2844 gtg cag start g-t post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 8494 ter codon is tag at posn 1328 Protein length after deletion = 1327 Total no. of codons in del cdnaseq = 2832 last codon in array is a gtt (V) cca (P) gca (A) gtg (V) cag (Q) ggt (G) tct (S) agt (S) tta (L) gtt (V) cca (P) gca (A) ggg (G) ttc (F) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: ggg (G) ttc (F) tag (TER) wild type sequence in deletion region: gtg (V) tca (S) cag (Q) cac (H) cct (P) aga (R) acc (T) aaa (K) tcc (S) agc (S) aga (R) ctg (L) cag (Q) wt frameshift deln region length = 13 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 3 1326 V 1328 * 3 large_intestine APC 1 c.3978_3979delGT p.S1327fs*4 length of cdnaseq = 8532 length of protseq = 2843 3978 3979 GT 2 1326 3 1327 1 gt Total no. of codons in cdna seq = 2844 gtg tca start t-g end t-c gt- -ca frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1330 Protein length after deletion = 1329 Total no. of codons in del cdnaseq = 2844 last codon in array is a gtt (V) cca (P) gca (A) gtg (V) tca (S) cag (Q) cac (H) cct (P) aga (R) gtt (V) cca (P) gca (A) gtc (V) aca (T) gca (A) ccc (P) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gtc (V) aca (T) gca (A) ccc (P) tag (TER) wild type sequence in deletion region: gtg (V) tca (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gtg (V) gtc (V) first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 4 1327 S 1330 * 4 large_intestine APC 1 c.3994_3994delA p.T1332fs*83 length of cdnaseq = 8532 length of protseq = 2843 3994 3994 A 1 1332 1 1332 1 a Total no. of codons in cdna seq = 2844 acc acc prev a start a-a end a-c --- -cc frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cac (H) cct (P) aga (R) acc (T) acc (T) aaa (K) tcc (S) agc (S) aga (R) cac (H) cct (P) aga (R) cca (P) aat (N) cca (P) gca (A) original frameshift length = 83 frameshift length = 83 frameshifted sequence: cca (P) aat (N) cca (P) gca (A) gac (D) tgc (C) agg (R) gtt (V) cta (L) gtt (V) tat (Y) ctt (L) cag (Q) aat (N) cag (Q) cca (P) ggc (G) aca (T) aag (K) ctg (L) ttg (L) aat (N) ttt (F) ctt (L) cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 83 1332 T 1414 * 83 large_intestine APC 1 c.4001_4001delC p.S1335fs*80 length of cdnaseq = 8532 length of protseq = 2843 4001 4001 C 1 1334 2 1334 2 c Total no. of codons in cdna seq = 2844 tcc tcc start t-c end c-c t-- --c frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aga (R) acc (T) aaa (K) tcc (S) tcc (S) agc (S) aga (R) ctg (L) cag (Q) aga (R) acc (T) aaa (K) tca (S) gca (A) gac (D) tgc (C) original frameshift length = 81 frameshift length = 81 frameshifted sequence: tca (S) gca (A) gac (D) tgc (C) agg (R) gtt (V) cta (L) gtt (V) tat (Y) ctt (L) cag (Q) aat (N) cag (Q) cca (P) ggc (G) aca (T) aag (K) ctg (L) ttg (L) aat (N) ttt (F) ctt (L) cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcc (S) tca (S) first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 80 1335 S 1414 * 80 large_intestine APC 1 c.4001_4002delCC p.S1334fs*1 length of cdnaseq = 8532 length of protseq = 2843 4001 4002 CC 2 1334 2 1334 3 cc Total no. of codons in cdna seq = 2844 tcc tcc start t-c post a end c-a t-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1334 Protein length after deletion = 1333 Total no. of codons in del cdnaseq = 2844 last codon in array is a aga (R) acc (T) aaa (K) tcc (S) tcc (S) agc (S) aga (R) ctg (L) cag (Q) aga (R) acc (T) aaa (K) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 1 1334 S 1334 * 1 large_intestine APC 1 c.4004_4034del31 p.S1335fs*70 length of cdnaseq = 8532 length of protseq = 2843 4004 4034 31 31 1335 2 1345 2 gcagactgcagggttctagtttatcttcaga Total no. of codons in cdna seq = 2844 agc gaa start a-g end a-a a-- --a frameshift deletion length of cdnaseq after deletion = 8501 ter codon is taa at posn 1404 Protein length after deletion = 1403 Total no. of codons in del cdnaseq = 2834 last codon in array is aa acc (T) aaa (K) tcc (S) agc (S) gaa (E) tca (S) gcc (A) agg (R) cac (H) acc (T) aaa (K) tcc (S) aat (N) cag (Q) cca (P) ggc (G) original frameshift length = 70 frameshift length = 70 frameshifted sequence: aat (N) cag (Q) cca (P) ggc (G) aca (T) aag (K) ctg (L) ttg (L) aat (N) ttt (F) ctt (L) cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: agc (S) aga (R) ctg (L) cag (Q) ggt (G) tct (S) agt (S) tta (L) tct (S) tca (S) gaa (E) wt frameshift deln region length = 11 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 70 1335 S 1404 * 70 large_intestine APC 1 c.4010_4011delTG p.L1337fs*4 length of cdnaseq = 8532 length of protseq = 2843 4010 4011 TG 2 1337 2 1337 3 tg Total no. of codons in cdna seq = 2844 ctg ctg start c-t post c end g-c c-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1340 Protein length after deletion = 1339 Total no. of codons in del cdnaseq = 2844 last codon in array is a tcc (S) agc (S) aga (R) ctg (L) ctg (L) cag (Q) ggt (G) tct (S) agt (S) tcc (S) agc (S) aga (R) cca (P) ggg (G) ttc (F) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: cca (P) ggg (G) ttc (F) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 4 1337 L 1340 * 4 large_intestine APC 1 c.4016_4016delG p.G1339fs*76 length of cdnaseq = 8532 length of protseq = 2843 4016 4016 G 1 1339 2 1339 2 g Total no. of codons in cdna seq = 2844 ggt ggt start g-g end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aga (R) ctg (L) cag (Q) ggt (G) ggt (G) tct (S) agt (S) tta (L) tct (S) aga (R) ctg (L) cag (Q) gtt (V) cta (L) gtt (V) tat (Y) original frameshift length = 76 frameshift length = 76 frameshifted sequence: gtt (V) cta (L) gtt (V) tat (Y) ctt (L) cag (Q) aat (N) cag (Q) cca (P) ggc (G) aca (T) aag (K) ctg (L) ttg (L) aat (N) ttt (F) ctt (L) cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: ggt (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 76 1339 G 1414 * 76 large_intestine APC 1 c.4034_4035delAA p.E1345fs*8 length of cdnaseq = 8532 length of protseq = 2843 4034 4035 AA 2 1345 2 1345 3 aa Total no. of codons in cdna seq = 2844 gaa gaa start g-a post t end a-t g-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1352 Protein length after deletion = 1351 Total no. of codons in del cdnaseq = 2844 last codon in array is a tta (L) tct (S) tca (S) gaa (E) gaa (E) tca (S) gcc (A) agg (R) cac (H) tta (L) tct (S) tca (S) gtc (V) agc (S) cag (Q) gca (A) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gtc (V) agc (S) cag (Q) gca (A) caa (Q) agc (S) tgt (C) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 8 1345 E 1352 * 8 large_intestine APC 1 c.4057_4064delGAATTTTC p.E1353fs*19 length of cdnaseq = 8532 length of protseq = 2843 4057 4064 GAATTTTC 8 1353 1 1355 2 gaattttc Total no. of codons in cdna seq = 2844 gaa tct prev t start t-g end c-t --- --t frameshift deletion length of cdnaseq after deletion = 8524 ter codon is tga at posn 1371 Protein length after deletion = 1370 Total no. of codons in del cdnaseq = 2842 last codon in array is a aaa (K) gct (A) gtt (V) gaa (E) tct (S) tca (S) gga (G) gcg (A) aaa (K) aaa (K) gct (A) gtt (V) ttc (F) agg (R) agc (S) gaa (E) original frameshift length = 19 frameshift length = 19 frameshifted sequence: ttc (F) agg (R) agc (S) gaa (E) atc (I) tcc (S) ctc (L) caa (Q) aag (K) tgg (W) tgc (C) tca (S) gac (D) acc (T) caa (Q) aag (K) tcc (S) acc (T) tga (TER) wild type sequence in deletion region: gaa (E) ttt (F) tct (S) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 19 1353 E 1371 * 19 large_intestine APC 1 c.4060_4061delTT p.S1355fs*19 length of cdnaseq = 8532 length of protseq = 2843 4060 4061 TT 2 1354 1 1354 2 tt Total no. of codons in cdna seq = 2844 ttt ttt prev a start a-t end t-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1373 Protein length after deletion = 1372 Total no. of codons in del cdnaseq = 2844 last codon in array is a gct (A) gtt (V) gaa (E) ttt (F) ttt (F) tct (S) tca (S) gga (G) gcg (A) gct (A) gtt (V) gaa (E) ttc (F) ttc (F) agg (R) agc (S) original frameshift length = 20 frameshift length = 20 frameshifted sequence: ttc (F) ttc (F) agg (R) agc (S) gaa (E) atc (I) tcc (S) ctc (L) caa (Q) aag (K) tgg (W) tgc (C) tca (S) gac (D) acc (T) caa (Q) aag (K) tcc (S) acc (T) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttt (F) ttc (F) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 19 1355 S 1373 * 19 large_intestine APC 1 c.4062_4066delTTCTT p.S1355fs*18 length of cdnaseq = 8532 length of protseq = 2843 4062 4066 TTCTT 5 1354 3 1356 1 ttctt Total no. of codons in cdna seq = 2844 ttt tca start t-t end t-c tt- -ca frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tga at posn 1372 Protein length after deletion = 1371 Total no. of codons in del cdnaseq = 2843 last codon in array is a gct (A) gtt (V) gaa (E) ttt (F) tca (S) gga (G) gcg (A) aaa (K) tct (S) gct (A) gtt (V) gaa (E) ttc (F) agg (R) agc (S) gaa (E) original frameshift length = 19 frameshift length = 19 frameshifted sequence: ttc (F) agg (R) agc (S) gaa (E) atc (I) tcc (S) ctc (L) caa (Q) aag (K) tgg (W) tgc (C) tca (S) gac (D) acc (T) caa (Q) aag (K) tcc (S) acc (T) tga (TER) wild type sequence in deletion region: ttt (F) tct (S) tca (S) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ttt (F) ttc (F) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 18 1355 S 1372 * 18 large_intestine APC 1 c.4063_4063delT p.S1355fs*60 length of cdnaseq = 8532 length of protseq = 2843 4063 4063 T 1 1355 1 1355 1 t Total no. of codons in cdna seq = 2844 tct tct prev t start t-t end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gtt (V) gaa (E) ttt (F) tct (S) tct (S) tca (S) gga (G) gcg (A) aaa (K) gtt (V) gaa (E) ttt (F) ctt (L) cag (Q) gag (E) cga (R) original frameshift length = 60 frameshift length = 60 frameshifted sequence: ctt (L) cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 60 1355 S 1414 * 60 large_intestine APC 1 c.4066_4066delT p.S1356fs*59 length of cdnaseq = 8532 length of protseq = 2843 4066 4066 T 1 1356 1 1356 1 t Total no. of codons in cdna seq = 2844 tca tca prev t start t-t end t-c --- -ca frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gaa (E) ttt (F) tct (S) tca (S) tca (S) gga (G) gcg (A) aaa (K) tct (S) gaa (E) ttt (F) tct (S) cag (Q) gag (E) cga (R) aat (N) original frameshift length = 59 frameshift length = 59 frameshifted sequence: cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: tca (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 59 1356 S 1414 * 59 large_intestine APC 1 c.4069_4070delGG p.G1357fs*17 length of cdnaseq = 8532 length of protseq = 2843 4069 4070 GG 2 1357 1 1357 2 gg Total no. of codons in cdna seq = 2844 gga gga prev a start a-g end g-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1373 Protein length after deletion = 1372 Total no. of codons in del cdnaseq = 2844 last codon in array is a ttt (F) tct (S) tca (S) gga (G) gga (G) gcg (A) aaa (K) tct (S) ccc (P) ttt (F) tct (S) tca (S) agc (S) gaa (E) atc (I) tcc (S) original frameshift length = 17 frameshift length = 17 frameshifted sequence: agc (S) gaa (E) atc (I) tcc (S) ctc (L) caa (Q) aag (K) tgg (W) tgc (C) tca (S) gac (D) acc (T) caa (Q) aag (K) tcc (S) acc (T) tga (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 17 1357 G 1373 * 17 large_intestine APC 1 c.4083_4083delC p.S1362fs*53 length of cdnaseq = 8532 length of protseq = 2843 4083 4083 C 1 1361 3 1361 3 c Total no. of codons in cdna seq = 2844 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gcg (A) aaa (K) tct (S) ccc (P) ccc (P) tcc (S) aaa (K) agt (S) ggt (G) gcg (A) aaa (K) tct (S) cct (P) cca (P) aaa (K) gtg (V) original frameshift length = 54 frameshift length = 54 frameshifted sequence: cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 53 1362 S 1414 * 53 large_intestine APC 1 c.4086_4086delC p.S1364fs*51 length of cdnaseq = 8532 length of protseq = 2843 4086 4086 C 1 1362 3 1362 3 c Total no. of codons in cdna seq = 2844 tcc tcc start c-c post a end c-a tc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aaa (K) tct (S) ccc (P) tcc (S) tcc (S) aaa (K) agt (S) ggt (G) gct (A) aaa (K) tct (S) ccc (P) tca (S) aaa (K) gtg (V) gtg (V) original frameshift length = 53 frameshift length = 53 frameshifted sequence: tca (S) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcc (S) tca (S) matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 51 1364 S 1414 * 51 large_intestine APC 1 c.4090_4090delA p.S1364fs*51 length of cdnaseq = 8532 length of protseq = 2843 4090 4090 A 1 1364 1 1364 1 a Total no. of codons in cdna seq = 2844 agt agt prev a start a-a end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ccc (P) tcc (S) aaa (K) agt (S) agt (S) ggt (G) gct (A) cag (Q) aca (T) ccc (P) tcc (S) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) original frameshift length = 51 frameshift length = 51 frameshifted sequence: gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 51 1364 S 1414 * 51 large_intestine APC 1 c.4107_4107delC p.S1371fs*44 length of cdnaseq = 8532 length of protseq = 2843 4107 4107 C 1 1369 3 1369 3 c Total no. of codons in cdna seq = 2844 ccc ccc start c-c post a end c-a cc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) cag (Q) aca (T) ccc (P) ccc (P) aaa (K) agt (S) cca (P) cct (P) gct (A) cag (Q) aca (T) cca (P) aaa (K) gtc (V) cac (H) original frameshift length = 46 frameshift length = 46 frameshifted sequence: cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 44 1371 S 1414 * 44 large_intestine APC 1 c.4108_4109delAA p.P1372fs*2 length of cdnaseq = 8532 length of protseq = 2843 4108 4109 AA 2 1370 1 1370 2 aa Total no. of codons in cdna seq = 2844 aaa aaa prev c start c-a end a-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1373 Protein length after deletion = 1372 Total no. of codons in del cdnaseq = 2844 last codon in array is a cag (Q) aca (T) ccc (P) aaa (K) aaa (K) agt (S) cca (P) cct (P) gaa (E) cag (Q) aca (T) ccc (P) aag (K) tcc (S) acc (T) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aag (K) tcc (S) acc (T) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) matching aa in delstart region of wt and deletion mutant: agt (S) tcc (S) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 2 1372 P 1373 * 2 large_intestine APC 1 c.4110_4111delAA p.P1372fs*2 length of cdnaseq = 8532 length of protseq = 2843 4110 4111 AA 2 1370 3 1371 1 aa Total no. of codons in cdna seq = 2844 aaa agt start a-a end a-g aa- -gt frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1373 Protein length after deletion = 1372 Total no. of codons in del cdnaseq = 2844 last codon in array is a cag (Q) aca (T) ccc (P) aaa (K) agt (S) cca (P) cct (P) gaa (E) cac (H) cag (Q) aca (T) ccc (P) aag (K) tcc (S) acc (T) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aag (K) tcc (S) acc (T) tga (TER) wild type sequence in deletion region: aaa (K) agt (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) matching aa in delstart region of wt and deletion mutant: agt (S) tcc (S) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 2 1372 P 1373 * 2 large_intestine APC 1 c.4117_4117delC p.P1373fs*42 length of cdnaseq = 8532 length of protseq = 2843 4117 4117 C 1 1373 1 1373 1 c Total no. of codons in cdna seq = 2844 cct cct prev a start a-c end c-c --- -ct frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aaa (K) agt (S) cca (P) cct (P) cct (P) gaa (E) cac (H) tat (Y) gtt (V) aaa (K) agt (S) cca (P) ctg (L) aac (N) act (T) atg (M) original frameshift length = 42 frameshift length = 42 frameshifted sequence: ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 42 1373 P 1414 * 42 large_intestine APC 1 c.4117_4120delCCTG p.P1373fs*41 length of cdnaseq = 8532 length of protseq = 2843 4117 4120 CCTG 4 1373 1 1374 1 cctg Total no. of codons in cdna seq = 2844 cct gaa prev a start a-c end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1413 Protein length after deletion = 1412 Total no. of codons in del cdnaseq = 2843 last codon in array is aa aaa (K) agt (S) cca (P) cct (P) gaa (E) cac (H) tat (Y) gtt (V) cag (Q) aaa (K) agt (S) cca (P) aac (N) act (T) atg (M) ttc (F) original frameshift length = 41 frameshift length = 41 frameshifted sequence: aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: cct (P) gaa (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 41 1373 P 1413 * 41 large_intestine APC 1 c.4124_4125delAC p.H1375fs*10 length of cdnaseq = 8532 length of protseq = 2843 4124 4125 AC 2 1375 2 1375 3 ac Total no. of codons in cdna seq = 2844 cac cac start c-a post t end c-t c-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1384 Protein length after deletion = 1383 Total no. of codons in del cdnaseq = 2844 last codon in array is a cca (P) cct (P) gaa (E) cac (H) cac (H) tat (Y) gtt (V) cag (Q) gag (E) cca (P) cct (P) gaa (E) cta (L) tgt (C) tca (S) gga (G) original frameshift length = 10 frameshift length = 10 frameshifted sequence: cta (L) tgt (C) tca (S) gga (G) gac (D) ccc (P) act (T) cat (H) gtt (V) tag (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 10 1375 H 1384 * 10 large_intestine APC 1 c.4126_4294del169 p.Y1376fs*41 length of cdnaseq = 8532 length of protseq = 2843 4126 4294 169 169 1376 1 1432 1 tatgttcaggagaccccactcatgtttagcagatgtacttctgtcagttcacttgatagttttgagagtcgttcgattgccagctccgttcagagtgaaccatgcagtggaatggtaagtggcattataagccccagtgatcttccagatagccctggacaaaccatgc Total no. of codons in cdna seq = 2844 tat cca prev c start c-t end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 8363 ter codon is taa at posn 1416 Protein length after deletion = 1415 Total no. of codons in del cdnaseq = 2788 last codon in array is aa cct (P) gaa (E) cac (H) tat (Y) cca (P) cca (P) agc (S) aga (R) agt (S) cct (P) gaa (E) cac (H) cac (H) caa (Q) gca (A) gaa (E) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: tat (Y) gtt (V) cag (Q) gag (E) acc (T) cca (P) ctc (L) atg (M) ttt (F) agc (S) aga (R) tgt (C) act (T) tct (S) gtc (V) agt (S) tca (S) ctt (L) gat (D) agt (S) ttt (F) gag (E) agt (S) cgt (R) tcg (S) att (I) gcc (A) agc (S) tcc (S) gtt (V) cag (Q) agt (S) gaa (E) cca (P) tgc (C) agt (S) gga (G) atg (M) gta (V) agt (S) ggc (G) att (I) ata (I) agc (S) ccc (P) agt (S) gat (D) ctt (L) cca (P) gat (D) agc (S) cct (P) gga (G) caa (Q) acc (T) atg (M) cca (P) wt frameshift deln region length = 57 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 41 1376 Y 1416 * 41 large_intestine APC 1 c.4128_4128delT p.Y1376fs*1 length of cdnaseq = 8532 length of protseq = 2843 4128 4128 T 1 1376 3 1376 3 t Total no. of codons in cdna seq = 2844 tat tat start a-t post g end t-g ta- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1376 Protein length after deletion = 1375 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cct (P) gaa (E) cac (H) tat (Y) tat (Y) gtt (V) cag (Q) gag (E) acc (T) cct (P) gaa (E) cac (H) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 1376 Y 1376 * 1 large_intestine APC 1 c.4130_4131delTT p.V1377fs*8 length of cdnaseq = 8532 length of protseq = 2843 4130 4131 TT 2 1377 2 1377 3 tt Total no. of codons in cdna seq = 2844 gtt gtt start g-t post c end t-c g-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1384 Protein length after deletion = 1383 Total no. of codons in del cdnaseq = 2844 last codon in array is a gaa (E) cac (H) tat (Y) gtt (V) gtt (V) cag (Q) gag (E) acc (T) cca (P) gaa (E) cac (H) tat (Y) gca (A) gga (G) gac (D) ccc (P) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gca (A) gga (G) gac (D) ccc (P) act (T) cat (H) gtt (V) tag (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 8 1377 V 1384 * 8 large_intestine APC 1 c.4132_4139delCAGGAGAC p.Q1378fs*5 length of cdnaseq = 8532 length of protseq = 2843 4132 4139 CAGGAGAC 8 1378 1 1380 2 caggagac Total no. of codons in cdna seq = 2844 cag acc prev t start t-c end c-c --- --c frameshift deletion length of cdnaseq after deletion = 8524 ter codon is tag at posn 1382 Protein length after deletion = 1381 Total no. of codons in del cdnaseq = 2842 last codon in array is a cac (H) tat (Y) gtt (V) cag (Q) acc (T) cca (P) ctc (L) atg (M) ttt (F) cac (H) tat (Y) gtt (V) ccc (P) act (T) cat (H) gtt (V) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ccc (P) act (T) cat (H) gtt (V) tag (TER) wild type sequence in deletion region: cag (Q) gag (E) acc (T) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 5 1378 Q 1382 * 5 large_intestine APC 1 c.4134_4134delG p.E1379fs*36 length of cdnaseq = 8532 length of protseq = 2843 4134 4134 G 1 1378 3 1378 3 g Total no. of codons in cdna seq = 2844 cag cag start a-g post g end g-g ca- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cac (H) tat (Y) gtt (V) cag (Q) cag (Q) gag (E) acc (T) cca (P) ctc (L) cac (H) tat (Y) gtt (V) cag (Q) aga (R) ccc (P) cac (H) original frameshift length = 37 frameshift length = 37 frameshifted sequence: cag (Q) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cag (Q) cag (Q) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 36 1379 E 1414 * 36 large_intestine APC 1 c.4138_4139delAC p.T1380fs*5 length of cdnaseq = 8532 length of protseq = 2843 4138 4139 AC 2 1380 1 1380 2 ac Total no. of codons in cdna seq = 2844 acc acc prev g start g-a end c-c --- --c frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1384 Protein length after deletion = 1383 Total no. of codons in del cdnaseq = 2844 last codon in array is a gtt (V) cag (Q) gag (E) acc (T) acc (T) cca (P) ctc (L) atg (M) ttt (F) gtt (V) cag (Q) gag (E) ccc (P) act (T) cat (H) gtt (V) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ccc (P) act (T) cat (H) gtt (V) tag (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 5 1380 T 1384 * 5 large_intestine APC 1 c.4139_4140delCC p.P1381fs*4 length of cdnaseq = 8532 length of protseq = 2843 4139 4140 CC 2 1380 2 1380 3 cc Total no. of codons in cdna seq = 2844 acc acc start a-c post c end c-c a-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1384 Protein length after deletion = 1383 Total no. of codons in del cdnaseq = 2844 last codon in array is a gtt (V) cag (Q) gag (E) acc (T) acc (T) cca (P) ctc (L) atg (M) ttt (F) gtt (V) cag (Q) gag (E) acc (T) act (T) cat (H) gtt (V) original frameshift length = 5 frameshift length = 5 frameshifted sequence: acc (T) act (T) cat (H) gtt (V) tag (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acc (T) acc (T) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 4 1381 P 1384 * 4 large_intestine APC 1 c.4144_4144delC p.L1382fs*33 length of cdnaseq = 8532 length of protseq = 2843 4144 4144 C 1 1382 1 1382 1 c Total no. of codons in cdna seq = 2844 ctc ctc prev a start a-c end c-t --- -tc frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gag (E) acc (T) cca (P) ctc (L) ctc (L) atg (M) ttt (F) agc (S) aga (R) gag (E) acc (T) cca (P) tca (S) tgt (C) tta (L) gca (A) original frameshift length = 33 frameshift length = 33 frameshifted sequence: tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 33 1382 L 1414 * 33 large_intestine APC 1 c.4148_4148delT p.M1383fs*32 length of cdnaseq = 8532 length of protseq = 2843 4148 4148 T 1 1383 2 1383 2 t Total no. of codons in cdna seq = 2844 atg atg start a-t end t-g a-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa acc (T) cca (P) ctc (L) atg (M) atg (M) ttt (F) agc (S) aga (R) tgt (C) acc (T) cca (P) ctc (L) agt (S) tta (L) gca (A) gat (D) original frameshift length = 32 frameshift length = 32 frameshifted sequence: agt (S) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 32 1383 M 1414 * 32 large_intestine APC 1 c.4164_4164delT p.S1389fs*26 length of cdnaseq = 8532 length of protseq = 2843 4164 4164 T 1 1388 3 1388 3 t Total no. of codons in cdna seq = 2844 act act start c-t post t end t-t ac- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agc (S) aga (R) tgt (C) act (T) act (T) tct (S) gtc (V) agt (S) tca (S) agc (S) aga (R) tgt (C) act (T) ctg (L) tca (S) gtt (V) original frameshift length = 27 frameshift length = 27 frameshifted sequence: act (T) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: act (T) act (T) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 26 1389 S 1414 * 26 large_intestine APC 1 c.4169_4170delTC p.V1390fs*4 length of cdnaseq = 8532 length of protseq = 2843 4169 4170 TC 2 1390 2 1390 3 tc Total no. of codons in cdna seq = 2844 gtc gtc start g-t post a end c-a g-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1393 Protein length after deletion = 1392 Total no. of codons in del cdnaseq = 2844 last codon in array is a tgt (C) act (T) tct (S) gtc (V) gtc (V) agt (S) tca (S) ctt (L) gat (D) tgt (C) act (T) tct (S) gag (E) ttc (F) act (T) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gag (E) ttc (F) act (T) tga (TER) wild type sequence in deletion region: gtc (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 4 1390 V 1393 * 4 large_intestine APC 1 c.4179_4179delT p.D1394fs*21 length of cdnaseq = 8532 length of protseq = 2843 4179 4179 T 1 1393 3 1393 3 t Total no. of codons in cdna seq = 2844 ctt ctt start t-t post g end t-g ct- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gtc (V) agt (S) tca (S) ctt (L) ctt (L) gat (D) agt (S) ttt (F) gag (E) gtc (V) agt (S) tca (S) ctg (L) ata (I) gtt (V) ttg (L) original frameshift length = 22 frameshift length = 22 frameshifted sequence: ctg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctt (L) ctg (L) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 21 1394 D 1414 * 21 large_intestine APC 1 c.4180_4183delGATA p.D1394fs*20 length of cdnaseq = 8532 length of protseq = 2843 4180 4183 GATA 4 1394 1 1395 1 gata Total no. of codons in cdna seq = 2844 gat agt prev t start t-g end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1413 Protein length after deletion = 1412 Total no. of codons in del cdnaseq = 2843 last codon in array is aa agt (S) tca (S) ctt (L) gat (D) agt (S) ttt (F) gag (E) agt (S) cgt (R) agt (S) tca (S) ctt (L) gtt (V) ttg (L) aga (R) gtc (V) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: gat (D) agt (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 20 1394 D 1413 * 20 large_intestine APC 1 c.4181_4181delA p.D1394fs*21 length of cdnaseq = 8532 length of protseq = 2843 4181 4181 A 1 1394 2 1394 2 a Total no. of codons in cdna seq = 2844 gat gat start g-a end a-t g-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agt (S) tca (S) ctt (L) gat (D) gat (D) agt (S) ttt (F) gag (E) agt (S) agt (S) tca (S) ctt (L) gta (V) gtt (V) ttg (L) aga (R) original frameshift length = 21 frameshift length = 21 frameshifted sequence: gta (V) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 21 1394 D 1414 * 21 large_intestine APC 1 c.4182_4183delTA p.D1394fs*3 length of cdnaseq = 8532 length of protseq = 2843 4182 4183 TA 2 1394 3 1395 1 ta Total no. of codons in cdna seq = 2844 gat agt start a-t end a-g ga- -gt frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1396 Protein length after deletion = 1395 Total no. of codons in del cdnaseq = 2844 last codon in array is a agt (S) tca (S) ctt (L) gat (D) agt (S) ttt (F) gag (E) agt (S) cgt (R) agt (S) tca (S) ctt (L) gag (E) ttt (F) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gag (E) ttt (F) tga (TER) wild type sequence in deletion region: gat (D) agt (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 3 1394 D 1396 * 3 large_intestine APC 1 c.4183_4183delA p.S1395fs*20 length of cdnaseq = 8532 length of protseq = 2843 4183 4183 A 1 1395 1 1395 1 a Total no. of codons in cdna seq = 2844 agt agt prev t start t-a end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tca (S) ctt (L) gat (D) agt (S) agt (S) ttt (F) gag (E) agt (S) cgt (R) tca (S) ctt (L) gat (D) gtt (V) ttg (L) aga (R) gtc (V) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 20 1395 S 1414 * 20 large_intestine APC 1 c.4185_4185delT p.F1396fs*19 length of cdnaseq = 8532 length of protseq = 2843 4185 4185 T 1 1395 3 1395 3 t Total no. of codons in cdna seq = 2844 agt agt start g-t post t end t-t ag- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tca (S) ctt (L) gat (D) agt (S) agt (S) ttt (F) gag (E) agt (S) cgt (R) tca (S) ctt (L) gat (D) agt (S) ttg (L) aga (R) gtc (V) original frameshift length = 20 frameshift length = 20 frameshifted sequence: agt (S) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agt (S) agt (S) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 19 1396 F 1414 * 19 large_intestine APC 1 c.4187_4188delTT p.F1396fs*1 length of cdnaseq = 8532 length of protseq = 2843 4187 4188 TT 2 1396 2 1396 3 tt Total no. of codons in cdna seq = 2844 ttt ttt start t-t post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1396 Protein length after deletion = 1395 Total no. of codons in del cdnaseq = 2844 last codon in array is a ctt (L) gat (D) agt (S) ttt (F) ttt (F) gag (E) agt (S) cgt (R) tcg (S) ctt (L) gat (D) agt (S) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 1 1396 F 1396 * 1 large_intestine APC 1 c.4188_4188delT p.F1396fs*19 length of cdnaseq = 8532 length of protseq = 2843 4188 4188 T 1 1396 3 1396 3 t Total no. of codons in cdna seq = 2844 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ctt (L) gat (D) agt (S) ttt (F) ttt (F) gag (E) agt (S) cgt (R) tcg (S) ctt (L) gat (D) agt (S) ttg (L) aga (R) gtc (V) gtt (V) original frameshift length = 19 frameshift length = 19 frameshifted sequence: ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 19 1396 F 1414 * 19 large_intestine APC 1 c.4190_4190delA p.E1397fs*18 length of cdnaseq = 8532 length of protseq = 2843 4190 4190 A 1 1397 2 1397 2 a Total no. of codons in cdna seq = 2844 gag gag start g-a end a-g g-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gat (D) agt (S) ttt (F) gag (E) gag (E) agt (S) cgt (R) tcg (S) att (I) gat (D) agt (S) ttt (F) gga (G) gtc (V) gtt (V) cga (R) original frameshift length = 18 frameshift length = 18 frameshifted sequence: gga (G) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 18 1397 E 1414 * 18 large_intestine APC 1 c.4190_4191delAG p.R1399fs*9 length of cdnaseq = 8532 length of protseq = 2843 4190 4191 AG 2 1397 2 1397 3 ag Total no. of codons in cdna seq = 2844 gag gag start g-a post a end g-a g-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1407 Protein length after deletion = 1406 Total no. of codons in del cdnaseq = 2844 last codon in array is a gat (D) agt (S) ttt (F) gag (E) gag (E) agt (S) cgt (R) tcg (S) att (I) gat (D) agt (S) ttt (F) gag (E) tcg (S) ttc (F) gat (D) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gag (E) tcg (S) ttc (F) gat (D) tgc (C) cag (Q) ctc (L) cgt (R) tca (S) gag (E) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) matching aa in delstart region of wt and deletion mutant: agt (S) tcg (S) first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 9 1399 R 1407 * 9 large_intestine APC 1 c.4193_4194delGT p.S1398fs*10 length of cdnaseq = 8532 length of protseq = 2843 4193 4194 GT 2 1398 2 1398 3 gt Total no. of codons in cdna seq = 2844 agt agt start a-g post c end t-c a-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1407 Protein length after deletion = 1406 Total no. of codons in del cdnaseq = 2844 last codon in array is a agt (S) ttt (F) gag (E) agt (S) agt (S) cgt (R) tcg (S) att (I) gcc (A) agt (S) ttt (F) gag (E) acg (T) ttc (F) gat (D) tgc (C) original frameshift length = 10 frameshift length = 10 frameshifted sequence: acg (T) ttc (F) gat (D) tgc (C) cag (Q) ctc (L) cgt (R) tca (S) gag (E) tga (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 10 1398 S 1407 * 10 large_intestine APC 1 c.4197_4207del11 p.S1400fs*5 length of cdnaseq = 8532 length of protseq = 2843 4197 4207 11 11 1399 3 1403 1 ttcgattgcca Total no. of codons in cdna seq = 2844 cgt agc start g-t end a-g cg- -gc frameshift deletion length of cdnaseq after deletion = 8521 ter codon is tga at posn 1404 Protein length after deletion = 1403 Total no. of codons in del cdnaseq = 2841 last codon in array is a ttt (F) gag (E) agt (S) cgt (R) agc (S) tcc (S) gtt (V) cag (Q) agt (S) ttt (F) gag (E) agt (S) cgg (R) ctc (L) cgt (R) tca (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cgg (R) ctc (L) cgt (R) tca (S) gag (E) tga (TER) wild type sequence in deletion region: cgt (R) tcg (S) att (I) gcc (A) agc (S) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: cgt (R) cgg (R) first wt aa affected by frameshift deletion is : tcg (S) final frameshift length = 5 1400 S 1404 * 5 large_intestine APC 1 c.4198_4198delT p.S1400fs*15 length of cdnaseq = 8532 length of protseq = 2843 4198 4198 T 1 1400 1 1400 1 t Total no. of codons in cdna seq = 2844 tcg tcg prev t start t-t end t-c --- -cg frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gag (E) agt (S) cgt (R) tcg (S) tcg (S) att (I) gcc (A) agc (S) tcc (S) gag (E) agt (S) cgt (R) cga (R) ttg (L) cca (P) gct (A) original frameshift length = 15 frameshift length = 15 frameshifted sequence: cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: tcg (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tcg (S) final frameshift length = 15 1400 S 1414 * 15 large_intestine APC 1 c.4203_4203delT p.I1401fs*14 length of cdnaseq = 8532 length of protseq = 2843 4203 4203 T 1 1401 3 1401 3 t Total no. of codons in cdna seq = 2844 att att start t-t post g end t-g at- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agt (S) cgt (R) tcg (S) att (I) att (I) gcc (A) agc (S) tcc (S) gtt (V) agt (S) cgt (R) tcg (S) atg (M) cca (P) gct (A) ccg (P) original frameshift length = 14 frameshift length = 14 frameshifted sequence: atg (M) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 14 1401 I 1414 * 14 large_intestine APC 1 c.4204_4204delG p.A1402fs*13 length of cdnaseq = 8532 length of protseq = 2843 4204 4204 G 1 1402 1 1402 1 g Total no. of codons in cdna seq = 2844 gcc gcc prev t start t-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cgt (R) tcg (S) att (I) gcc (A) gcc (A) agc (S) tcc (S) gtt (V) cag (Q) cgt (R) tcg (S) att (I) cca (P) gct (A) ccg (P) ttc (F) original frameshift length = 13 frameshift length = 13 frameshifted sequence: cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 13 1402 A 1414 * 13 large_intestine APC 1 c.4205_4206delCC p.A1402fs*6 length of cdnaseq = 8532 length of protseq = 2843 4205 4206 CC 2 1402 2 1402 3 cc Total no. of codons in cdna seq = 2844 gcc gcc start g-c post a end c-a g-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1407 Protein length after deletion = 1406 Total no. of codons in del cdnaseq = 2844 last codon in array is a cgt (R) tcg (S) att (I) gcc (A) gcc (A) agc (S) tcc (S) gtt (V) cag (Q) cgt (R) tcg (S) att (I) gag (E) ctc (L) cgt (R) tca (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: gag (E) ctc (L) cgt (R) tca (S) gag (E) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 6 1402 A 1407 * 6 large_intestine APC 1 c.4213_4213delG p.V1405fs*10 length of cdnaseq = 8532 length of protseq = 2843 4213 4213 G 1 1405 1 1405 1 g Total no. of codons in cdna seq = 2844 gtt gtt prev c start c-g end g-t --- -tt frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gcc (A) agc (S) tcc (S) gtt (V) gtt (V) cag (Q) agt (S) gaa (E) cca (P) gcc (A) agc (S) tcc (S) ttc (F) aga (R) gtg (V) aac (N) original frameshift length = 10 frameshift length = 10 frameshifted sequence: ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 10 1405 V 1414 * 10 large_intestine APC 1 c.4225_4247del23 p.P1409fs*6 length of cdnaseq = 8532 length of protseq = 2843 4225 4247 23 23 1409 1 1416 2 ccatgcagtggaatggtaagtgg Total no. of codons in cdna seq = 2844 cca ggc prev a start a-c end g-c --- --c frameshift deletion length of cdnaseq after deletion = 8509 ter codon is tga at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2837 last codon in array is a cag (Q) agt (S) gaa (E) cca (P) ggc (G) att (I) ata (I) agc (S) ccc (P) cag (Q) agt (S) gaa (E) cat (H) tat (Y) aag (K) ccc (P) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cat (H) tat (Y) aag (K) ccc (P) cag (Q) tga (TER) wild type sequence in deletion region: cca (P) tgc (C) agt (S) gga (G) atg (M) gta (V) agt (S) ggc (G) wt frameshift deln region length = 8 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 6 1409 P 1414 * 6 large_intestine APC 1 c.4231_4294del64 p.S1411fs*41 length of cdnaseq = 8532 length of protseq = 2843 4231 4294 64 64 1411 1 1432 1 agtggaatggtaagtggcattataagccccagtgatcttccagatagccctggacaaaccatgc Total no. of codons in cdna seq = 2844 agt cca prev c start c-a end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 8468 ter codon is taa at posn 1451 Protein length after deletion = 1450 Total no. of codons in del cdnaseq = 2823 last codon in array is aa gaa (E) cca (P) tgc (C) agt (S) cca (P) cca (P) agc (S) aga (R) agt (S) gaa (E) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agt (S) gga (G) atg (M) gta (V) agt (S) ggc (G) att (I) ata (I) agc (S) ccc (P) agt (S) gat (D) ctt (L) cca (P) gat (D) agc (S) cct (P) gga (G) caa (Q) acc (T) atg (M) cca (P) wt frameshift deln region length = 22 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 41 1411 S 1451 * 41 large_intestine APC 1 c.4232_4232delG p.S1411fs*4 length of cdnaseq = 8532 length of protseq = 2843 4232 4232 G 1 1411 2 1411 2 g Total no. of codons in cdna seq = 2844 agt agt start a-g end g-t a-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gaa (E) cca (P) tgc (C) agt (S) agt (S) gga (G) atg (M) gta (V) agt (S) gaa (E) cca (P) tgc (C) atg (M) gaa (E) tgg (W) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: atg (M) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 4 1411 S 1414 * 4 large_intestine APC 1 c.4234_4234delG p.G1412fs*3 length of cdnaseq = 8532 length of protseq = 2843 4234 4234 G 1 1412 1 1412 1 g Total no. of codons in cdna seq = 2844 gga gga prev t start t-g end g-g --- -ga frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) tgc (C) agt (S) gga (G) gga (G) atg (M) gta (V) agt (S) ggc (G) cca (P) tgc (C) agt (S) gaa (E) tgg (W) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 3 1412 G 1414 * 3 large_intestine APC 1 c.4235_4236delGA p.G1412fs*10 length of cdnaseq = 8532 length of protseq = 2843 4235 4236 GA 2 1412 2 1412 3 ga Total no. of codons in cdna seq = 2844 gga gga start g-g post a end a-a g-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1421 Protein length after deletion = 1420 Total no. of codons in del cdnaseq = 2844 last codon in array is a cca (P) tgc (C) agt (S) gga (G) gga (G) atg (M) gta (V) agt (S) ggc (G) cca (P) tgc (C) agt (S) gat (D) ggt (G) aag (K) tgg (W) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gat (D) ggt (G) aag (K) tgg (W) cat (H) tat (Y) aag (K) ccc (P) cag (Q) tga (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 10 1412 G 1421 * 10 large_intestine APC 1 c.4238_4238delT p.M1413fs*2 length of cdnaseq = 8532 length of protseq = 2843 4238 4238 T 1 1413 2 1413 2 t Total no. of codons in cdna seq = 2844 atg atg start a-t end t-g a-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tgc (C) agt (S) gga (G) atg (M) atg (M) gta (V) agt (S) ggc (G) att (I) tgc (C) agt (S) gga (G) agg (R) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: agg (R) taa (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 2 1413 M 1414 * 2 large_intestine APC 1 c.4238_4241delTGGT p.M1413fs*5 length of cdnaseq = 8532 length of protseq = 2843 4238 4241 TGGT 4 1413 2 1414 2 tggt Total no. of codons in cdna seq = 2844 atg gta start a-t end t-a a-- --a frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1417 Protein length after deletion = 1416 Total no. of codons in del cdnaseq = 2843 last codon in array is aa tgc (C) agt (S) gga (G) atg (M) gta (V) agt (S) ggc (G) att (I) ata (I) tgc (C) agt (S) gga (G) aaa (K) gtg (V) gca (A) tta (L) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aaa (K) gtg (V) gca (A) tta (L) taa (TER) wild type sequence in deletion region: atg (M) gta (V) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 5 1413 M 1417 * 5 large_intestine APC 1 c.4238_4244delTGGTAAG p.V1414fs*3 length of cdnaseq = 8532 length of protseq = 2843 4238 4244 TGGTAAG 7 1413 2 1415 2 tggtaag Total no. of codons in cdna seq = 2844 atg agt start a-t end g-t a-- --t frameshift deletion length of cdnaseq after deletion = 8525 ter codon is taa at posn 1416 Protein length after deletion = 1415 Total no. of codons in del cdnaseq = 2842 last codon in array is aa tgc (C) agt (S) gga (G) atg (M) agt (S) ggc (G) att (I) ata (I) agc (S) tgc (C) agt (S) gga (G) atg (M) gca (A) tta (L) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: atg (M) gca (A) tta (L) taa (TER) wild type sequence in deletion region: atg (M) gta (V) agt (S) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: atg (M) atg (M) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 3 1414 V 1416 * 3 large_intestine APC 1 c.4240_4240delG p.V1414fs*1 length of cdnaseq = 8532 length of protseq = 2843 4240 4240 G 1 1414 1 1414 1 g Total no. of codons in cdna seq = 2844 gta gta prev g start g-g end g-t --- -ta frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agt (S) gga (G) atg (M) gta (V) gta (V) agt (S) ggc (G) att (I) ata (I) agt (S) gga (G) atg (M) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 1414 V 1414 * 1 large_intestine APC 1 c.4241_4241delT p.V1414fs*5 length of cdnaseq = 8532 length of protseq = 2843 4241 4241 T 1 1414 2 1414 2 t Total no. of codons in cdna seq = 2844 gta gta start g-t end t-a g-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1418 Protein length after deletion = 1417 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agt (S) gga (G) atg (M) gta (V) gta (V) agt (S) ggc (G) att (I) ata (I) agt (S) gga (G) atg (M) gaa (E) gtg (V) gca (A) tta (L) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gaa (E) gtg (V) gca (A) tta (L) taa (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 5 1414 V 1418 * 5 large_intestine APC 1 c.4242_4242delA p.S1415fs*4 length of cdnaseq = 8532 length of protseq = 2843 4242 4242 A 1 1414 3 1414 3 a Total no. of codons in cdna seq = 2844 gta gta start t-a post a end a-a gt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1418 Protein length after deletion = 1417 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agt (S) gga (G) atg (M) gta (V) gta (V) agt (S) ggc (G) att (I) ata (I) agt (S) gga (G) atg (M) gta (V) gtg (V) gca (A) tta (L) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gta (V) gtg (V) gca (A) tta (L) taa (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gta (V) gta (V) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 4 1415 S 1418 * 4 large_intestine APC 1 c.4247_4247delG p.G1416fs*3 length of cdnaseq = 8532 length of protseq = 2843 4247 4247 G 1 1416 2 1416 2 g Total no. of codons in cdna seq = 2844 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1418 Protein length after deletion = 1417 Total no. of codons in del cdnaseq = 2844 last codon in array is aa atg (M) gta (V) agt (S) ggc (G) ggc (G) att (I) ata (I) agc (S) ccc (P) atg (M) gta (V) agt (S) gca (A) tta (L) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gca (A) tta (L) taa (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 3 1416 G 1418 * 3 large_intestine APC 1 c.4250_4250delT p.I1418fs*1 length of cdnaseq = 8532 length of protseq = 2843 4250 4250 T 1 1417 2 1417 2 t Total no. of codons in cdna seq = 2844 att att start a-t end t-t a-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1418 Protein length after deletion = 1417 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gta (V) agt (S) ggc (G) att (I) att (I) ata (I) agc (S) ccc (P) agt (S) gta (V) agt (S) ggc (G) ata (I) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ata (I) taa (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: att (I) ata (I) first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 1 1418 I 1418 * 1 large_intestine APC 1 c.4254_4255delAA p.I1418fs*4 length of cdnaseq = 8532 length of protseq = 2843 4254 4255 AA 2 1418 3 1419 1 aa Total no. of codons in cdna seq = 2844 ata agc start t-a end a-g at- -gc frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1421 Protein length after deletion = 1420 Total no. of codons in del cdnaseq = 2844 last codon in array is a agt (S) ggc (G) att (I) ata (I) agc (S) ccc (P) agt (S) gat (D) ctt (L) agt (S) ggc (G) att (I) atg (M) ccc (P) cag (Q) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: atg (M) ccc (P) cag (Q) tga (TER) wild type sequence in deletion region: ata (I) agc (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 4 1418 I 1421 * 4 large_intestine APC 1 c.4256_4256delG p.S1419fs*54 length of cdnaseq = 8532 length of protseq = 2843 4256 4256 G 1 1419 2 1419 2 g Total no. of codons in cdna seq = 2844 agc agc start a-g end g-c a-- --c frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ggc (G) att (I) ata (I) agc (S) agc (S) ccc (P) agt (S) gat (D) ctt (L) ggc (G) att (I) ata (I) acc (T) cca (P) gtg (V) atc (I) original frameshift length = 54 frameshift length = 54 frameshifted sequence: acc (T) cca (P) gtg (V) atc (I) ttc (F) cag (Q) ata (I) gcc (A) ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 54 1419 S 1472 * 54 large_intestine APC 1 c.4259_4260delCC p.P1420fs*2 length of cdnaseq = 8532 length of protseq = 2843 4259 4260 CC 2 1420 2 1420 3 cc Total no. of codons in cdna seq = 2844 ccc ccc start c-c post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1421 Protein length after deletion = 1420 Total no. of codons in del cdnaseq = 2844 last codon in array is a att (I) ata (I) agc (S) ccc (P) ccc (P) agt (S) gat (D) ctt (L) cca (P) att (I) ata (I) agc (S) cag (Q) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: cag (Q) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 2 1420 P 1421 * 2 large_intestine APC 1 c.4259_4266delCCAGTGAT p.D1422fs*2 length of cdnaseq = 8532 length of protseq = 2843 4259 4266 CCAGTGAT 8 1420 2 1422 3 ccagtgat Total no. of codons in cdna seq = 2844 ccc gat start c-c post c end t-c c-- --- frameshift deletion length of cdnaseq after deletion = 8524 ter codon is tag at posn 1423 Protein length after deletion = 1422 Total no. of codons in del cdnaseq = 2842 last codon in array is a att (I) ata (I) agc (S) ccc (P) gat (D) ctt (L) cca (P) gat (D) agc (S) att (I) ata (I) agc (S) cct (P) tcc (S) aga (R) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: cct (P) tcc (S) aga (R) tag (TER) wild type sequence in deletion region: ccc (P) agt (S) gat (D) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) matching aa in delstart region of wt and deletion mutant: agt (S) tcc (S) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 2 1422 D 1423 * 2 large_intestine APC 1 c.4260_4261delCA p.S1421fs*1 length of cdnaseq = 8532 length of protseq = 2843 4260 4261 CA 2 1420 3 1421 1 ca Total no. of codons in cdna seq = 2844 ccc agt start c-c end a-g cc- -gt frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1421 Protein length after deletion = 1420 Total no. of codons in del cdnaseq = 2844 last codon in array is a att (I) ata (I) agc (S) ccc (P) agt (S) gat (D) ctt (L) cca (P) gat (D) att (I) ata (I) agc (S) ccg (P) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ccg (P) tga (TER) wild type sequence in deletion region: ccc (P) agt (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 1 1421 S 1421 * 1 large_intestine APC 1 c.4260_4267delCAGTGATC p.D1422fs*2 length of cdnaseq = 8532 length of protseq = 2843 4260 4267 CAGTGATC 8 1420 3 1423 1 cagtgatc Total no. of codons in cdna seq = 2844 ccc ctt start c-c end c-t cc- -tt frameshift deletion length of cdnaseq after deletion = 8524 ter codon is tag at posn 1423 Protein length after deletion = 1422 Total no. of codons in del cdnaseq = 2842 last codon in array is a att (I) ata (I) agc (S) ccc (P) ctt (L) cca (P) gat (D) agc (S) cct (P) att (I) ata (I) agc (S) cct (P) tcc (S) aga (R) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: cct (P) tcc (S) aga (R) tag (TER) wild type sequence in deletion region: ccc (P) agt (S) gat (D) ctt (L) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) matching aa in delstart region of wt and deletion mutant: agt (S) tcc (S) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 2 1422 D 1423 * 2 large_intestine APC 1 c.4261_4261delA p.S1421fs*52 length of cdnaseq = 8532 length of protseq = 2843 4261 4261 A 1 1421 1 1421 1 a Total no. of codons in cdna seq = 2844 agt agt prev c start c-a end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ata (I) agc (S) ccc (P) agt (S) agt (S) gat (D) ctt (L) cca (P) gat (D) ata (I) agc (S) ccc (P) gtg (V) atc (I) ttc (F) cag (Q) original frameshift length = 52 frameshift length = 52 frameshifted sequence: gtg (V) atc (I) ttc (F) cag (Q) ata (I) gcc (A) ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 52 1421 S 1472 * 52 large_intestine APC 1 c.4263_4263delT p.S1421fs*52 length of cdnaseq = 8532 length of protseq = 2843 4263 4263 T 1 1421 3 1421 3 t Total no. of codons in cdna seq = 2844 agt agt start g-t post g end t-g ag- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ata (I) agc (S) ccc (P) agt (S) agt (S) gat (D) ctt (L) cca (P) gat (D) ata (I) agc (S) ccc (P) agg (R) atc (I) ttc (F) cag (Q) original frameshift length = 52 frameshift length = 52 frameshifted sequence: agg (R) atc (I) ttc (F) cag (Q) ata (I) gcc (A) ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 52 1421 S 1472 * 52 large_intestine APC 1 c.4269_4269delT p.P1424fs*49 length of cdnaseq = 8532 length of protseq = 2843 4269 4269 T 1 1423 3 1423 3 t Total no. of codons in cdna seq = 2844 ctt ctt start t-t post c end t-c ct- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ccc (P) agt (S) gat (D) ctt (L) ctt (L) cca (P) gat (D) agc (S) cct (P) ccc (P) agt (S) gat (D) ctc (L) cag (Q) ata (I) gcc (A) original frameshift length = 50 frameshift length = 50 frameshifted sequence: ctc (L) cag (Q) ata (I) gcc (A) ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctt (L) ctc (L) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 49 1424 P 1472 * 49 large_intestine APC 1 c.4270_4270delC p.P1424fs*49 length of cdnaseq = 8532 length of protseq = 2843 4270 4270 C 1 1424 1 1424 1 c Total no. of codons in cdna seq = 2844 cca cca prev t start t-c end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agt (S) gat (D) ctt (L) cca (P) cca (P) gat (D) agc (S) cct (P) gga (G) agt (S) gat (D) ctt (L) cag (Q) ata (I) gcc (A) ctg (L) original frameshift length = 49 frameshift length = 49 frameshifted sequence: cag (Q) ata (I) gcc (A) ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 49 1424 P 1472 * 49 large_intestine APC 1 c.4270_4360del91 p.P1424fs*19 length of cdnaseq = 8532 length of protseq = 2843 4270 4360 91 91 1424 1 1454 1 ccagatagccctggacaaaccatgccaccaagcagaagtaaaacacctccaccacctcctcaaacagctcaaaccaagcgagaagtaccta Total no. of codons in cdna seq = 2844 cca aaa prev t start t-c end a-a --- -aa frameshift deletion length of cdnaseq after deletion = 8441 ter codon is taa at posn 1442 Protein length after deletion = 1441 Total no. of codons in del cdnaseq = 2814 last codon in array is aa agt (S) gat (D) ctt (L) cca (P) aaa (K) aat (N) aaa (K) gca (A) cct (P) agt (S) gat (D) ctt (L) aaa (K) ata (I) aag (K) cac (H) original frameshift length = 19 frameshift length = 19 frameshifted sequence: aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cca (P) gat (D) agc (S) cct (P) gga (G) caa (Q) acc (T) atg (M) cca (P) cca (P) agc (S) aga (R) agt (S) aaa (K) aca (T) cct (P) cca (P) cca (P) cct (P) cct (P) caa (Q) aca (T) gct (A) caa (Q) acc (T) aag (K) cga (R) gaa (E) gta (V) cct (P) aaa (K) wt frameshift deln region length = 31 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 19 1424 P 1442 * 19 large_intestine APC 1 c.4272_4275delAGAT p.D1425fs*47 length of cdnaseq = 8532 length of protseq = 2843 4272 4275 AGAT 4 1424 3 1425 3 agat Total no. of codons in cdna seq = 2844 cca gat start c-a post a end t-a cc- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa agt (S) gat (D) ctt (L) cca (P) gat (D) agc (S) cct (P) gga (G) caa (Q) agt (S) gat (D) ctt (L) cca (P) gcc (A) ctg (L) gac (D) original frameshift length = 48 frameshift length = 48 frameshifted sequence: cca (P) gcc (A) ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cca (P) gat (D) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cca (P) cca (P) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 47 1425 D 1471 * 47 large_intestine APC 1 c.4276_4276delA p.S1426fs*47 length of cdnaseq = 8532 length of protseq = 2843 4276 4276 A 1 1426 1 1426 1 a Total no. of codons in cdna seq = 2844 agc agc prev t start t-a end a-g --- -gc frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ctt (L) cca (P) gat (D) agc (S) agc (S) cct (P) gga (G) caa (Q) acc (T) ctt (L) cca (P) gat (D) gcc (A) ctg (L) gac (D) aaa (K) original frameshift length = 47 frameshift length = 47 frameshifted sequence: gcc (A) ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 47 1426 S 1472 * 47 large_intestine APC 1 c.4276_4279delAGCC p.S1426fs*46 length of cdnaseq = 8532 length of protseq = 2843 4276 4279 AGCC 4 1426 1 1427 1 agcc Total no. of codons in cdna seq = 2844 agc cct prev t start t-a end c-c --- -ct frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa ctt (L) cca (P) gat (D) agc (S) cct (P) gga (G) caa (Q) acc (T) atg (M) ctt (L) cca (P) gat (D) ctg (L) gac (D) aaa (K) cca (P) original frameshift length = 46 frameshift length = 46 frameshifted sequence: ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agc (S) cct (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 46 1426 S 1471 * 46 large_intestine APC 1 c.4278_4278delC p.P1427fs*46 length of cdnaseq = 8532 length of protseq = 2843 4278 4278 C 1 1426 3 1426 3 c Total no. of codons in cdna seq = 2844 agc agc start g-c post c end c-c ag- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ctt (L) cca (P) gat (D) agc (S) agc (S) cct (P) gga (G) caa (Q) acc (T) ctt (L) cca (P) gat (D) agc (S) ctg (L) gac (D) aaa (K) original frameshift length = 47 frameshift length = 47 frameshifted sequence: agc (S) ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agc (S) agc (S) first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 46 1427 P 1472 * 46 large_intestine APC 1 c.4279_4280delCC p.P1427fs*10 length of cdnaseq = 8532 length of protseq = 2843 4279 4280 CC 2 1427 1 1427 2 cc Total no. of codons in cdna seq = 2844 cct cct prev c start c-c end c-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1436 Protein length after deletion = 1435 Total no. of codons in del cdnaseq = 2844 last codon in array is a cca (P) gat (D) agc (S) cct (P) cct (P) gga (G) caa (Q) acc (T) atg (M) cca (P) gat (D) agc (S) tgg (W) aca (T) aac (N) cat (H) original frameshift length = 10 frameshift length = 10 frameshifted sequence: tgg (W) aca (T) aac (N) cat (H) gcc (A) acc (T) aag (K) cag (Q) aag (K) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 10 1427 P 1436 * 10 large_intestine APC 1 c.4281_4281delT p.G1428fs*45 length of cdnaseq = 8532 length of protseq = 2843 4281 4281 T 1 1427 3 1427 3 t Total no. of codons in cdna seq = 2844 cct cct start c-t post g end t-g cc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) gat (D) agc (S) cct (P) cct (P) gga (G) caa (Q) acc (T) atg (M) cca (P) gat (D) agc (S) ccg (P) gac (D) aaa (K) cca (P) original frameshift length = 46 frameshift length = 46 frameshifted sequence: ccg (P) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cct (P) ccg (P) first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 45 1428 G 1472 * 45 large_intestine APC 1 c.4286_4286delA p.T1430fs*43 length of cdnaseq = 8532 length of protseq = 2843 4286 4286 A 1 1429 2 1429 2 a Total no. of codons in cdna seq = 2844 caa caa start c-a end a-a c-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agc (S) cct (P) gga (G) caa (Q) caa (Q) acc (T) atg (M) cca (P) cca (P) agc (S) cct (P) gga (G) caa (Q) cca (P) tgc (C) cac (H) original frameshift length = 44 frameshift length = 44 frameshifted sequence: caa (Q) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: caa (Q) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: caa (Q) caa (Q) first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 43 1430 T 1472 * 43 large_intestine APC 1 c.4287_4296delAACCATGCCA p.Q1429fs*41 length of cdnaseq = 8532 length of protseq = 2843 4287 4296 AACCATGCCA 10 1429 3 1432 3 aaccatgcca Total no. of codons in cdna seq = 2844 caa cca start a-a post c end a-c ca- --- frameshift deletion length of cdnaseq after deletion = 8522 ter codon is taa at posn 1469 Protein length after deletion = 1468 Total no. of codons in del cdnaseq = 2841 last codon in array is aa agc (S) cct (P) gga (G) caa (Q) cca (P) cca (P) agc (S) aga (R) agt (S) agc (S) cct (P) gga (G) cac (H) caa (Q) gca (A) gaa (E) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: caa (Q) acc (T) atg (M) cca (P) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 41 1429 Q 1469 * 41 large_intestine APC 1 c.4291_4291delA p.M1431fs*42 length of cdnaseq = 8532 length of protseq = 2843 4291 4291 A 1 1431 1 1431 1 a Total no. of codons in cdna seq = 2844 atg atg prev c start c-a end a-t --- -tg frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gga (G) caa (Q) acc (T) atg (M) atg (M) cca (P) cca (P) agc (S) aga (R) gga (G) caa (Q) acc (T) tgc (C) cac (H) caa (Q) gca (A) original frameshift length = 42 frameshift length = 42 frameshifted sequence: tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 42 1431 M 1472 * 42 large_intestine APC 1 c.4292_4292delT p.M1431fs*42 length of cdnaseq = 8532 length of protseq = 2843 4292 4292 T 1 1431 2 1431 2 t Total no. of codons in cdna seq = 2844 atg atg start a-t end t-g a-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gga (G) caa (Q) acc (T) atg (M) atg (M) cca (P) cca (P) agc (S) aga (R) gga (G) caa (Q) acc (T) agc (S) cac (H) caa (Q) gca (A) original frameshift length = 42 frameshift length = 42 frameshifted sequence: agc (S) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 42 1431 M 1472 * 42 large_intestine APC 1 c.4294_4294delC p.P1432fs*41 length of cdnaseq = 8532 length of protseq = 2843 4294 4294 C 1 1432 1 1432 1 c Total no. of codons in cdna seq = 2844 cca cca prev g start g-c end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa caa (Q) acc (T) atg (M) cca (P) cca (P) cca (P) agc (S) aga (R) agt (S) caa (Q) acc (T) atg (M) cac (H) caa (Q) gca (A) gaa (E) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 41 1432 P 1472 * 41 large_intestine APC 1 c.4304delG p.R1435fs*38 length of cdnaseq = 8532 length of protseq = 2843 4304 4304 G 1 1435 2 1435 2 g Total no. of codons in cdna seq = 2844 aga aga start a-g end g-a a-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) cca (P) agc (S) aga (R) aga (R) agt (S) aaa (K) aca (T) cct (P) cca (P) cca (P) agc (S) aaa (K) gta (V) aaa (K) cac (H) original frameshift length = 38 frameshift length = 38 frameshifted sequence: aaa (K) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 38 1435 R 1472 * 38 large_intestine APC 1 c.4305_4305delA p.S1436fs*37 length of cdnaseq = 8532 length of protseq = 2843 4305 4305 A 1 1435 3 1435 3 a Total no. of codons in cdna seq = 2844 aga aga start g-a post a end a-a ag- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) cca (P) agc (S) aga (R) aga (R) agt (S) aaa (K) aca (T) cct (P) cca (P) cca (P) agc (S) aga (R) gta (V) aaa (K) cac (H) original frameshift length = 38 frameshift length = 38 frameshifted sequence: aga (R) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aga (R) aga (R) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 37 1436 S 1472 * 37 large_intestine APC 1 c.4305_4308delAAGT p.S1436fs*36 length of cdnaseq = 8532 length of protseq = 2843 4305 4308 AAGT 4 1435 3 1436 3 aagt Total no. of codons in cdna seq = 2844 aga agt start g-a post a end t-a ag- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa cca (P) cca (P) agc (S) aga (R) agt (S) aaa (K) aca (T) cct (P) cca (P) cca (P) cca (P) agc (S) aga (R) aaa (K) cac (H) ctc (L) original frameshift length = 37 frameshift length = 37 frameshifted sequence: aga (R) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aga (R) agt (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aga (R) aga (R) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 36 1436 S 1471 * 36 large_intestine APC 1 c.4305_4350del46 p.S1436fs*22 length of cdnaseq = 8532 length of protseq = 2843 4305 4350 46 46 1435 3 1450 3 aagtaaaacacctccaccacctcctcaaacagctcaaaccaagcga Total no. of codons in cdna seq = 2844 aga cga start g-a post g end a-g ag- --- frameshift deletion length of cdnaseq after deletion = 8486 ter codon is taa at posn 1457 Protein length after deletion = 1456 Total no. of codons in del cdnaseq = 2829 last codon in array is aa cca (P) cca (P) agc (S) aga (R) cga (R) gaa (E) gta (V) cct (P) aaa (K) cca (P) cca (P) agc (S) agg (R) aag (K) tac (Y) cta (L) original frameshift length = 23 frameshift length = 23 frameshifted sequence: agg (R) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aga (R) agt (S) aaa (K) aca (T) cct (P) cca (P) cca (P) cct (P) cct (P) caa (Q) aca (T) gct (A) caa (Q) acc (T) aag (K) cga (R) wt frameshift deln region length = 16 matching aa in delstart region of wt and deletion mutant: aga (R) agg (R) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 22 1436 S 1457 * 22 large_intestine APC 1 c.4306_4318del13 p.S1436fs*33 length of cdnaseq = 8532 length of protseq = 2843 4306 4318 13 13 1436 1 1440 1 agtaaaacacctc Total no. of codons in cdna seq = 2844 agt cca prev a start a-a end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 8519 ter codon is taa at posn 1468 Protein length after deletion = 1467 Total no. of codons in del cdnaseq = 2840 last codon in array is aa cca (P) agc (S) aga (R) agt (S) cca (P) cca (P) cct (P) cct (P) caa (Q) cca (P) agc (S) aga (R) cac (H) cac (H) ctc (L) ctc (L) original frameshift length = 33 frameshift length = 33 frameshifted sequence: cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agt (S) aaa (K) aca (T) cct (P) cca (P) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 33 1436 S 1468 * 33 large_intestine APC 1 c.4308_4308delT p.S1436fs*37 length of cdnaseq = 8532 length of protseq = 2843 4308 4308 T 1 1436 3 1436 3 t Total no. of codons in cdna seq = 2844 agt agt start g-t post a end t-a ag- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) agc (S) aga (R) agt (S) agt (S) aaa (K) aca (T) cct (P) cca (P) cca (P) agc (S) aga (R) aga (R) aaa (K) cac (H) ctc (L) original frameshift length = 37 frameshift length = 37 frameshifted sequence: aga (R) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 37 1436 S 1472 * 37 large_intestine APC 1 c.4312delA p.T1438fs*35 length of cdnaseq = 8532 length of protseq = 2843 4312 4312 A 1 1438 1 1438 1 a Total no. of codons in cdna seq = 2844 aca aca prev a start a-a end a-c --- -ca frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aga (R) agt (S) aaa (K) aca (T) aca (T) cct (P) cca (P) cca (P) cct (P) aga (R) agt (S) aaa (K) cac (H) ctc (L) cac (H) cac (H) original frameshift length = 35 frameshift length = 35 frameshifted sequence: cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 35 1438 T 1472 * 35 large_intestine APC 1 c.4313_4313delC p.T1438fs*35 length of cdnaseq = 8532 length of protseq = 2843 4313 4313 C 1 1438 2 1438 2 c Total no. of codons in cdna seq = 2844 aca aca start a-c end c-a a-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aga (R) agt (S) aaa (K) aca (T) aca (T) cct (P) cca (P) cca (P) cct (P) aga (R) agt (S) aaa (K) aac (N) ctc (L) cac (H) cac (H) original frameshift length = 35 frameshift length = 35 frameshifted sequence: aac (N) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 35 1438 T 1472 * 35 large_intestine APC 1 c.4314_4315delAC p.P1439fs*15 length of cdnaseq = 8532 length of protseq = 2843 4314 4315 AC 2 1438 3 1439 1 ac Total no. of codons in cdna seq = 2844 aca cct start c-a end c-c ac- -ct frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1453 Protein length after deletion = 1452 Total no. of codons in del cdnaseq = 2844 last codon in array is a aga (R) agt (S) aaa (K) aca (T) cct (P) cca (P) cca (P) cct (P) cct (P) aga (R) agt (S) aaa (K) acc (T) tcc (S) acc (T) acc (T) original frameshift length = 16 frameshift length = 16 frameshifted sequence: acc (T) tcc (S) acc (T) acc (T) tcc (S) tca (S) aac (N) agc (S) tca (S) aac (N) caa (Q) gcg (A) aga (R) agt (S) acc (T) taa (TER) wild type sequence in deletion region: aca (T) cct (P) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aca (T) acc (T) first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 15 1439 P 1453 * 15 large_intestine APC 1 c.4317_4317delT p.P1440fs*33 length of cdnaseq = 8532 length of protseq = 2843 4317 4317 T 1 1439 3 1439 3 t Total no. of codons in cdna seq = 2844 cct cct start c-t post c end t-c cc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agt (S) aaa (K) aca (T) cct (P) cct (P) cca (P) cca (P) cct (P) cct (P) agt (S) aaa (K) aca (T) ccc (P) cac (H) cac (H) ctc (L) original frameshift length = 34 frameshift length = 34 frameshifted sequence: ccc (P) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cct (P) ccc (P) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 33 1440 P 1472 * 33 large_intestine APC 1 c.4320_4332del13 p.P1441fs*28 length of cdnaseq = 8532 length of protseq = 2843 4320 4332 13 13 1440 3 1444 3 accacctcctcaa Total no. of codons in cdna seq = 2844 cca caa start c-a post a end a-a cc- --- frameshift deletion length of cdnaseq after deletion = 8519 ter codon is taa at posn 1468 Protein length after deletion = 1467 Total no. of codons in del cdnaseq = 2840 last codon in array is aa aaa (K) aca (T) cct (P) cca (P) caa (Q) aca (T) gct (A) caa (Q) acc (T) aaa (K) aca (T) cct (P) cca (P) cag (Q) ctc (L) aaa (K) original frameshift length = 29 frameshift length = 29 frameshifted sequence: cca (P) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cca (P) cca (P) cct (P) cct (P) caa (Q) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: cca (P) cca (P) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 28 1441 P 1468 * 28 large_intestine APC 1 c.4320_4335del16 p.P1441fs*27 length of cdnaseq = 8532 length of protseq = 2843 4320 4335 16 16 1440 3 1445 3 accacctcctcaaaca Total no. of codons in cdna seq = 2844 cca aca start c-a post g end a-g cc- --- frameshift deletion length of cdnaseq after deletion = 8516 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2839 last codon in array is aa aaa (K) aca (T) cct (P) cca (P) aca (T) gct (A) caa (Q) acc (T) aag (K) aaa (K) aca (T) cct (P) ccg (P) ctc (L) aaa (K) cca (P) original frameshift length = 28 frameshift length = 28 frameshifted sequence: ccg (P) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cca (P) cca (P) cct (P) cct (P) caa (Q) aca (T) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: cca (P) ccg (P) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 27 1441 P 1467 * 27 large_intestine APC 1 c.4323_4323delA p.P1442fs*31 length of cdnaseq = 8532 length of protseq = 2843 4323 4323 A 1 1441 3 1441 3 a Total no. of codons in cdna seq = 2844 cca cca start c-a post c end a-c cc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aca (T) cct (P) cca (P) cca (P) cca (P) cct (P) cct (P) caa (Q) aca (T) aca (T) cct (P) cca (P) ccc (P) ctc (L) ctc (L) aaa (K) original frameshift length = 32 frameshift length = 32 frameshifted sequence: ccc (P) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cca (P) ccc (P) first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 31 1442 P 1472 * 31 large_intestine APC 1 c.4325_4325delC p.P1442fs*31 length of cdnaseq = 8532 length of protseq = 2843 4325 4325 C 1 1442 2 1442 2 c Total no. of codons in cdna seq = 2844 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cct (P) cca (P) cca (P) cct (P) cct (P) cct (P) caa (Q) aca (T) gct (A) cct (P) cca (P) cca (P) ctc (L) ctc (L) aaa (K) cag (Q) original frameshift length = 31 frameshift length = 31 frameshifted sequence: ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 31 1442 P 1472 * 31 large_intestine APC 1 c.4329_4329delT p.Q1444fs*29 length of cdnaseq = 8532 length of protseq = 2843 4329 4329 T 1 1443 3 1443 3 t Total no. of codons in cdna seq = 2844 cct cct start c-t post c end t-c cc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) cca (P) cct (P) cct (P) cct (P) caa (Q) aca (T) gct (A) caa (Q) cca (P) cca (P) cct (P) ccc (P) aaa (K) cag (Q) ctc (L) original frameshift length = 30 frameshift length = 30 frameshifted sequence: ccc (P) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cct (P) ccc (P) first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 29 1444 Q 1472 * 29 large_intestine APC 1 c.4334_4334delC p.T1445fs*28 length of cdnaseq = 8532 length of protseq = 2843 4334 4334 C 1 1445 2 1445 2 c Total no. of codons in cdna seq = 2844 aca aca start a-c end c-a a-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cct (P) cct (P) caa (Q) aca (T) aca (T) gct (A) caa (Q) acc (T) aag (K) cct (P) cct (P) caa (Q) aag (K) ctc (L) aaa (K) cca (P) original frameshift length = 28 frameshift length = 28 frameshifted sequence: aag (K) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 28 1445 T 1472 * 28 large_intestine APC 1 c.4335_4335delA p.A1446fs*27 length of cdnaseq = 8532 length of protseq = 2843 4335 4335 A 1 1445 3 1445 3 a Total no. of codons in cdna seq = 2844 aca aca start c-a post g end a-g ac- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cct (P) cct (P) caa (Q) aca (T) aca (T) gct (A) caa (Q) acc (T) aag (K) cct (P) cct (P) caa (Q) acg (T) ctc (L) aaa (K) cca (P) original frameshift length = 28 frameshift length = 28 frameshifted sequence: acg (T) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aca (T) acg (T) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 27 1446 A 1472 * 27 large_intestine APC 1 c.4337_4346del10 p.A1446fs*24 length of cdnaseq = 8532 length of protseq = 2843 4337 4346 10 10 1446 2 1449 2 ctcaaaccaa Total no. of codons in cdna seq = 2844 gct aag start g-c end a-g g-- --g frameshift deletion length of cdnaseq after deletion = 8522 ter codon is taa at posn 1469 Protein length after deletion = 1468 Total no. of codons in del cdnaseq = 2841 last codon in array is aa cct (P) caa (Q) aca (T) gct (A) aag (K) cga (R) gaa (E) gta (V) cct (P) cct (P) caa (Q) aca (T) ggc (G) gag (E) aag (K) tac (Y) original frameshift length = 24 frameshift length = 24 frameshifted sequence: ggc (G) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: gct (A) caa (Q) acc (T) aag (K) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 24 1446 A 1469 * 24 large_intestine APC 1 c.4338_4338delT p.Q1447fs*26 length of cdnaseq = 8532 length of protseq = 2843 4338 4338 T 1 1446 3 1446 3 t Total no. of codons in cdna seq = 2844 gct gct start c-t post c end t-c gc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cct (P) caa (Q) aca (T) gct (A) gct (A) caa (Q) acc (T) aag (K) cga (R) cct (P) caa (Q) aca (T) gcc (A) aaa (K) cca (P) agc (S) original frameshift length = 27 frameshift length = 27 frameshifted sequence: gcc (A) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: gct (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gct (A) gcc (A) first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 26 1447 Q 1472 * 26 large_intestine APC 1 c.4346_4346delA p.K1449fs*24 length of cdnaseq = 8532 length of protseq = 2843 4346 4346 A 1 1449 2 1449 2 a Total no. of codons in cdna seq = 2844 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) caa (Q) acc (T) aag (K) aag (K) cga (R) gaa (E) gta (V) cct (P) gct (A) caa (Q) acc (T) agc (S) gag (E) aag (K) tac (Y) original frameshift length = 24 frameshift length = 24 frameshifted sequence: agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 24 1449 K 1472 * 24 large_intestine APC 1 c.4348_4351delCGAG p.R1450fs*22 length of cdnaseq = 8532 length of protseq = 2843 4348 4351 CGAG 4 1450 1 1451 1 cgag Total no. of codons in cdna seq = 2844 cga gaa prev g start g-c end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa caa (Q) acc (T) aag (K) cga (R) gaa (E) gta (V) cct (P) aaa (K) aat (N) caa (Q) acc (T) aag (K) aag (K) tac (Y) cta (L) aaa (K) original frameshift length = 22 frameshift length = 22 frameshifted sequence: aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cga (R) gaa (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 22 1450 R 1471 * 22 large_intestine APC 1 c.4357_4370del14 p.P1453fs*4 length of cdnaseq = 8532 length of protseq = 2843 4357 4370 14 14 1453 1 1457 2 cctaaaaataaagc Total no. of codons in cdna seq = 2844 cct gca prev a start a-c end c-a --- --a frameshift deletion length of cdnaseq after deletion = 8518 ter codon is tga at posn 1456 Protein length after deletion = 1455 Total no. of codons in del cdnaseq = 2840 last codon in array is a cga (R) gaa (E) gta (V) cct (P) gca (A) cct (P) act (T) gct (A) gaa (E) cga (R) gaa (E) gta (V) acc (T) tac (Y) tgc (C) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: acc (T) tac (Y) tgc (C) tga (TER) wild type sequence in deletion region: cct (P) aaa (K) aat (N) aaa (K) gca (A) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 4 1453 P 1456 * 4 large_intestine APC 1 c.4358_4361delCTAA p.P1453fs*19 length of cdnaseq = 8532 length of protseq = 2843 4358 4361 CTAA 4 1453 2 1454 2 ctaa Total no. of codons in cdna seq = 2844 cct aaa start c-c end a-a c-- --a frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa cga (R) gaa (E) gta (V) cct (P) aaa (K) aat (N) aaa (K) gca (A) cct (P) cga (R) gaa (E) gta (V) caa (Q) ata (I) aag (K) cac (H) original frameshift length = 19 frameshift length = 19 frameshifted sequence: caa (Q) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cct (P) aaa (K) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 19 1453 P 1471 * 19 large_intestine APC 1 c.4362_4365delAAAT p.N1455fs*17 length of cdnaseq = 8532 length of protseq = 2843 4362 4365 AAAT 4 1454 3 1455 3 aaat Total no. of codons in cdna seq = 2844 aaa aat start a-a post a end t-a aa- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gaa (E) gta (V) cct (P) aaa (K) aat (N) aaa (K) gca (A) cct (P) act (T) gaa (E) gta (V) cct (P) aaa (K) aag (K) cac (H) cta (L) original frameshift length = 18 frameshift length = 18 frameshifted sequence: aaa (K) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aaa (K) aat (N) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 17 1455 N 1471 * 17 large_intestine APC 1 c.4382_4383delAA p.K1462fs*6 length of cdnaseq = 8532 length of protseq = 2843 4382 4383 AA 2 1461 2 1461 3 aa Total no. of codons in cdna seq = 2844 gaa gaa start g-a post a end a-a g-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a cct (P) act (T) gct (A) gaa (E) gaa (E) aag (K) aga (R) gag (E) agt (S) cct (P) act (T) gct (A) gaa (E) gag (E) aga (R) gag (E) original frameshift length = 7 frameshift length = 7 frameshifted sequence: gaa (E) gag (E) aga (R) gag (E) tgg (W) acc (T) taa (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 6 1462 K 1467 * 6 large_intestine APC 1 c.4383_4386delAAAG p.K1462fs*10 length of cdnaseq = 8532 length of protseq = 2843 4383 4386 AAAG 4 1461 3 1462 3 aaag Total no. of codons in cdna seq = 2844 gaa aag start a-a post a end g-a ga- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa cct (P) act (T) gct (A) gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) act (T) gct (A) gaa (E) gag (E) aga (R) gtg (V) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gaa (E) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: gaa (E) aag (K) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 10 1462 K 1471 * 10 large_intestine APC 1 c.4385_4389delAGAGA p.K1462fs*5 length of cdnaseq = 8532 length of protseq = 2843 4385 4389 AGAGA 5 1462 2 1463 3 agaga Total no. of codons in cdna seq = 2844 aag aga start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 8527 ter codon is taa at posn 1466 Protein length after deletion = 1465 Total no. of codons in del cdnaseq = 2843 last codon in array is a act (T) gct (A) gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) act (T) gct (A) gaa (E) aga (R) gag (E) tgg (W) acc (T) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aga (R) gag (E) tgg (W) acc (T) taa (TER) wild type sequence in deletion region: aag (K) aga (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 5 1462 K 1466 * 5 large_intestine APC 1 c.4415_4415delT p.V1472fs*35 length of cdnaseq = 8532 length of protseq = 2843 4415 4415 T 1 1472 2 1472 2 t Total no. of codons in cdna seq = 2844 gta gta start g-t end t-a g-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa caa (Q) gct (A) gca (A) gta (V) gta (V) aat (N) gct (A) gca (A) gtt (V) caa (Q) gct (A) gca (A) gaa (E) atg (M) ctg (L) cag (Q) original frameshift length = 35 frameshift length = 35 frameshifted sequence: gaa (E) atg (M) ctg (L) cag (Q) ttc (F) aga (R) ggg (G) tcc (S) agg (R) ttc (F) ttc (F) cag (Q) atg (M) ctg (L) ata (I) ctt (L) tat (Y) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 35 1472 V 1506 * 35 large_intestine APC 1 c.4418_4418delA p.N1473fs*34 length of cdnaseq = 8532 length of protseq = 2843 4418 4418 A 1 1473 2 1473 2 a Total no. of codons in cdna seq = 2844 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) gca (A) gta (V) aat (N) aat (N) gct (A) gca (A) gtt (V) cag (Q) gct (A) gca (A) gta (V) atg (M) ctg (L) cag (Q) ttc (F) original frameshift length = 34 frameshift length = 34 frameshifted sequence: atg (M) ctg (L) cag (Q) ttc (F) aga (R) ggg (G) tcc (S) agg (R) ttc (F) ttc (F) cag (Q) atg (M) ctg (L) ata (I) ctt (L) tat (Y) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 34 1473 N 1506 * 34 large_intestine APC 1 c.4419_4419delT p.N1473fs*34 length of cdnaseq = 8532 length of protseq = 2843 4419 4419 T 1 1473 3 1473 3 t Total no. of codons in cdna seq = 2844 aat aat start a-t post g end t-g aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) gca (A) gta (V) aat (N) aat (N) gct (A) gca (A) gtt (V) cag (Q) gct (A) gca (A) gta (V) aag (K) ctg (L) cag (Q) ttc (F) original frameshift length = 34 frameshift length = 34 frameshifted sequence: aag (K) ctg (L) cag (Q) ttc (F) aga (R) ggg (G) tcc (S) agg (R) ttc (F) ttc (F) cag (Q) atg (M) ctg (L) ata (I) ctt (L) tat (Y) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 34 1473 N 1506 * 34 large_intestine APC 1 c.4443_4443delT p.L1482fs*25 length of cdnaseq = 8532 length of protseq = 2843 4443 4443 T 1 1481 3 1481 3 t Total no. of codons in cdna seq = 2844 gtt gtt start t-t post c end t-c gt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agg (R) gtc (V) cag (Q) gtt (V) gtt (V) ctt (L) cca (P) gat (D) gct (A) agg (R) gtc (V) cag (Q) gtc (V) ttc (F) cag (Q) atg (M) original frameshift length = 26 frameshift length = 26 frameshifted sequence: gtc (V) ttc (F) cag (Q) atg (M) ctg (L) ata (I) ctt (L) tat (Y) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gtt (V) gtc (V) first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 25 1482 L 1506 * 25 large_intestine APC 1 c.4451_4452delAT p.D1484fs*2 length of cdnaseq = 8532 length of protseq = 2843 4451 4452 AT 2 1484 2 1484 3 at Total no. of codons in cdna seq = 2844 gat gat start g-a post g end t-g g-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1485 Protein length after deletion = 1484 Total no. of codons in del cdnaseq = 2844 last codon in array is a gtt (V) ctt (L) cca (P) gat (D) gat (D) gct (A) gat (D) act (T) tta (L) gtt (V) ctt (L) cca (P) ggc (G) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ggc (G) tga (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 2 1484 D 1485 * 2 large_intestine APC 1 c.4455_4455delT p.D1486fs*21 length of cdnaseq = 8532 length of protseq = 2843 4455 4455 T 1 1485 3 1485 3 t Total no. of codons in cdna seq = 2844 gct gct start c-t post g end t-g gc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ctt (L) cca (P) gat (D) gct (A) gct (A) gat (D) act (T) tta (L) tta (L) ctt (L) cca (P) gat (D) gcg (A) ata (I) ctt (L) tat (Y) original frameshift length = 22 frameshift length = 22 frameshifted sequence: gcg (A) ata (I) ctt (L) tat (Y) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gct (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gct (A) gcg (A) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 21 1486 D 1506 * 21 large_intestine APC 1 c.4456_4456delG p.D1486fs*21 length of cdnaseq = 8532 length of protseq = 2843 4456 4456 G 1 1486 1 1486 1 g Total no. of codons in cdna seq = 2844 gat gat prev t start t-g end g-a --- -at frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) gat (D) gct (A) gat (D) gat (D) act (T) tta (L) tta (L) cat (H) cca (P) gat (D) gct (A) ata (I) ctt (L) tat (Y) tac (Y) original frameshift length = 21 frameshift length = 21 frameshifted sequence: ata (I) ctt (L) tat (Y) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 21 1486 D 1506 * 21 large_intestine APC 1 c.4457_4457delA p.D1486fs*21 length of cdnaseq = 8532 length of protseq = 2843 4457 4457 A 1 1486 2 1486 2 a Total no. of codons in cdna seq = 2844 gat gat start g-a end a-t g-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) gat (D) gct (A) gat (D) gat (D) act (T) tta (L) tta (L) cat (H) cca (P) gat (D) gct (A) gta (V) ctt (L) tat (Y) tac (Y) original frameshift length = 21 frameshift length = 21 frameshifted sequence: gta (V) ctt (L) tat (Y) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 21 1486 D 1506 * 21 large_intestine APC 1 c.4460_4460delC p.T1487fs*20 length of cdnaseq = 8532 length of protseq = 2843 4460 4460 C 1 1487 2 1487 2 c Total no. of codons in cdna seq = 2844 act act start a-c end c-t a-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gat (D) gct (A) gat (D) act (T) act (T) tta (L) tta (L) cat (H) ttt (F) gat (D) gct (A) gat (D) att (I) tat (Y) tac (Y) att (I) original frameshift length = 20 frameshift length = 20 frameshifted sequence: att (I) tat (Y) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 20 1487 T 1506 * 20 large_intestine APC 1 c.4460_4467delCTTTATTA p.L1488fs*23 length of cdnaseq = 8532 length of protseq = 2843 4460 4467 CTTTATTA 8 1487 2 1489 3 ctttatta Total no. of codons in cdna seq = 2844 act tta start a-c post c end a-c a-- --- frameshift deletion length of cdnaseq after deletion = 8524 ter codon is tga at posn 1510 Protein length after deletion = 1509 Total no. of codons in del cdnaseq = 2842 last codon in array is a gat (D) gct (A) gat (D) act (T) tta (L) cat (H) ttt (F) gcc (A) acg (T) gat (D) gct (A) gat (D) aca (T) ttt (F) tgc (C) cac (H) original frameshift length = 24 frameshift length = 24 frameshifted sequence: aca (T) ttt (F) tgc (C) cac (H) gga (G) aag (K) tac (Y) tcc (S) aga (R) tgg (W) att (I) ttc (F) ttg (L) ttc (F) atc (I) cag (Q) cct (P) gag (E) tgc (C) tct (S) gag (E) cct (P) cga (R) tga (TER) wild type sequence in deletion region: act (T) tta (L) tta (L) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: act (T) aca (T) first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 23 1488 L 1510 * 23 large_intestine APC 1 c.4461_4464delTTTA p.L1488fs*18 length of cdnaseq = 8532 length of protseq = 2843 4461 4464 TTTA 4 1487 3 1488 3 ttta Total no. of codons in cdna seq = 2844 act tta start c-t post t end a-t ac- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tga at posn 1505 Protein length after deletion = 1504 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gat (D) gct (A) gat (D) act (T) tta (L) tta (L) cat (H) ttt (F) gcc (A) gat (D) gct (A) gat (D) act (T) tac (Y) att (I) ttg (L) original frameshift length = 19 frameshift length = 19 frameshifted sequence: act (T) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: act (T) tta (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: act (T) act (T) first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 18 1488 L 1505 * 18 large_intestine APC 1 c.4462_4463delTT p.L1488fs*25 length of cdnaseq = 8532 length of protseq = 2843 4462 4463 TT 2 1488 1 1488 2 tt Total no. of codons in cdna seq = 2844 tta tta prev t start t-t end t-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1512 Protein length after deletion = 1511 Total no. of codons in del cdnaseq = 2844 last codon in array is a gct (A) gat (D) act (T) tta (L) tta (L) tta (L) cat (H) ttt (F) gcc (A) gct (A) gat (D) act (T) att (I) aca (T) ttt (F) tgc (C) original frameshift length = 25 frameshift length = 25 frameshifted sequence: att (I) aca (T) ttt (F) tgc (C) cac (H) gga (G) aag (K) tac (Y) tcc (S) aga (R) tgg (W) att (I) ttc (F) ttg (L) ttc (F) atc (I) cag (Q) cct (P) gag (E) tgc (C) tct (S) gag (E) cct (P) cga (R) tga (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 25 1488 L 1512 * 25 large_intestine APC 1 c.4462_4469delTTATTACA p.L1488fs*23 length of cdnaseq = 8532 length of protseq = 2843 4462 4469 TTATTACA 8 1488 1 1490 2 ttattaca Total no. of codons in cdna seq = 2844 tta cat prev t start t-t end a-t --- --t frameshift deletion length of cdnaseq after deletion = 8524 ter codon is tga at posn 1510 Protein length after deletion = 1509 Total no. of codons in del cdnaseq = 2842 last codon in array is a gct (A) gat (D) act (T) tta (L) cat (H) ttt (F) gcc (A) acg (T) gaa (E) gct (A) gat (D) act (T) ttt (F) tgc (C) cac (H) gga (G) original frameshift length = 23 frameshift length = 23 frameshifted sequence: ttt (F) tgc (C) cac (H) gga (G) aag (K) tac (Y) tcc (S) aga (R) tgg (W) att (I) ttc (F) ttg (L) ttc (F) atc (I) cag (Q) cct (P) gag (E) tgc (C) tct (S) gag (E) cct (P) cga (R) tga (TER) wild type sequence in deletion region: tta (L) tta (L) cat (H) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 23 1488 L 1510 * 23 large_intestine APC 1 c.4464_4474del11 p.L1488fs*22 length of cdnaseq = 8532 length of protseq = 2843 4464 4474 11 11 1488 3 1492 1 attacattttg Total no. of codons in cdna seq = 2844 tta gcc start t-a end g-c tt- -cc frameshift deletion length of cdnaseq after deletion = 8521 ter codon is tga at posn 1509 Protein length after deletion = 1508 Total no. of codons in del cdnaseq = 2841 last codon in array is a gct (A) gat (D) act (T) tta (L) gcc (A) acg (T) gaa (E) agt (S) act (T) gct (A) gat (D) act (T) ttc (F) cac (H) gga (G) aag (K) original frameshift length = 22 frameshift length = 22 frameshifted sequence: ttc (F) cac (H) gga (G) aag (K) tac (Y) tcc (S) aga (R) tgg (W) att (I) ttc (F) ttg (L) ttc (F) atc (I) cag (Q) cct (P) gag (E) tgc (C) tct (S) gag (E) cct (P) cga (R) tga (TER) wild type sequence in deletion region: tta (L) tta (L) cat (H) ttt (F) gcc (A) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 22 1488 L 1509 * 22 large_intestine APC 1 c.4467_4471delACATT p.L1489fs*23 length of cdnaseq = 8532 length of protseq = 2843 4467 4471 ACATT 5 1489 3 1491 1 acatt Total no. of codons in cdna seq = 2844 tta ttt start t-a end t-t tt- -tt frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tga at posn 1511 Protein length after deletion = 1510 Total no. of codons in del cdnaseq = 2843 last codon in array is a gat (D) act (T) tta (L) tta (L) ttt (F) gcc (A) acg (T) gaa (E) agt (S) gat (D) act (T) tta (L) ttt (F) tgc (C) cac (H) gga (G) original frameshift length = 23 frameshift length = 23 frameshifted sequence: ttt (F) tgc (C) cac (H) gga (G) aag (K) tac (Y) tcc (S) aga (R) tgg (W) att (I) ttc (F) ttg (L) ttc (F) atc (I) cag (Q) cct (P) gag (E) tgc (C) tct (S) gag (E) cct (P) cga (R) tga (TER) wild type sequence in deletion region: tta (L) cat (H) ttt (F) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 23 1489 L 1511 * 23 large_intestine APC 1 c.4468_4468delC p.H1490fs*17 length of cdnaseq = 8532 length of protseq = 2843 4468 4468 C 1 1490 1 1490 1 c Total no. of codons in cdna seq = 2844 cat cat prev a start a-c end c-a --- -at frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa act (T) tta (L) tta (L) cat (H) cat (H) ttt (F) gcc (A) acg (T) gaa (E) act (T) tta (L) tta (L) att (I) ttg (L) cca (P) cgg (R) original frameshift length = 17 frameshift length = 17 frameshifted sequence: att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 17 1490 H 1506 * 17 large_intestine APC 1 c.4469_4475delATTTTGC p.H1490fs*15 length of cdnaseq = 8532 length of protseq = 2843 4469 4475 ATTTTGC 7 1490 2 1492 2 attttgc Total no. of codons in cdna seq = 2844 cat gcc start c-a end c-c c-- --c frameshift deletion length of cdnaseq after deletion = 8525 ter codon is tga at posn 1504 Protein length after deletion = 1503 Total no. of codons in del cdnaseq = 2842 last codon in array is aa act (T) tta (L) tta (L) cat (H) gcc (A) acg (T) gaa (E) agt (S) act (T) act (T) tta (L) tta (L) cca (P) cgg (R) aaa (K) gta (V) original frameshift length = 15 frameshift length = 15 frameshifted sequence: cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: cat (H) ttt (F) gcc (A) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 15 1490 H 1504 * 15 large_intestine APC 1 c.4470_4470delT p.F1491fs*16 length of cdnaseq = 8532 length of protseq = 2843 4470 4470 T 1 1490 3 1490 3 t Total no. of codons in cdna seq = 2844 cat cat start a-t post t end t-t ca- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa act (T) tta (L) tta (L) cat (H) cat (H) ttt (F) gcc (A) acg (T) gaa (E) act (T) tta (L) tta (L) cat (H) ttg (L) cca (P) cgg (R) original frameshift length = 17 frameshift length = 17 frameshifted sequence: cat (H) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cat (H) cat (H) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 16 1491 F 1506 * 16 large_intestine APC 1 c.4475_4475delC p.T1493fs*14 length of cdnaseq = 8532 length of protseq = 2843 4475 4475 C 1 1492 2 1492 2 c Total no. of codons in cdna seq = 2844 gcc gcc start g-c end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tta (L) cat (H) ttt (F) gcc (A) gcc (A) acg (T) gaa (E) agt (S) act (T) tta (L) cat (H) ttt (F) gca (A) cgg (R) aaa (K) gta (V) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gca (A) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 14 1493 T 1506 * 14 large_intestine APC 1 c.4477_4480delACGG p.T1493fs*13 length of cdnaseq = 8532 length of protseq = 2843 4477 4480 ACGG 4 1493 1 1494 1 acgg Total no. of codons in cdna seq = 2844 acg gaa prev c start c-a end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tga at posn 1505 Protein length after deletion = 1504 Total no. of codons in del cdnaseq = 2843 last codon in array is aa cat (H) ttt (F) gcc (A) acg (T) gaa (E) agt (S) act (T) cca (P) gat (D) cat (H) ttt (F) gcc (A) aaa (K) gta (V) ctc (L) cag (Q) original frameshift length = 13 frameshift length = 13 frameshifted sequence: aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: acg (T) gaa (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 13 1493 T 1505 * 13 large_intestine APC 1 c.4477_4487del11 p.T1493fs*17 length of cdnaseq = 8532 length of protseq = 2843 4477 4487 11 11 1493 1 1496 2 acggaaagtac Total no. of codons in cdna seq = 2844 acg act prev c start c-a end c-t --- --t frameshift deletion length of cdnaseq after deletion = 8521 ter codon is tga at posn 1509 Protein length after deletion = 1508 Total no. of codons in del cdnaseq = 2841 last codon in array is a cat (H) ttt (F) gcc (A) acg (T) act (T) cca (P) gat (D) gga (G) ttt (F) cat (H) ttt (F) gcc (A) tcc (S) aga (R) tgg (W) att (I) original frameshift length = 17 frameshift length = 17 frameshifted sequence: tcc (S) aga (R) tgg (W) att (I) ttc (F) ttg (L) ttc (F) atc (I) cag (Q) cct (P) gag (E) tgc (C) tct (S) gag (E) cct (P) cga (R) tga (TER) wild type sequence in deletion region: acg (T) gaa (E) agt (S) act (T) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 17 1493 T 1509 * 17 large_intestine APC 1 c.4479_4479delG p.E1494fs*13 length of cdnaseq = 8532 length of protseq = 2843 4479 4479 G 1 1493 3 1493 3 g Total no. of codons in cdna seq = 2844 acg acg start c-g post g end g-g ac- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cat (H) ttt (F) gcc (A) acg (T) acg (T) gaa (E) agt (S) act (T) cca (P) cat (H) ttt (F) gcc (A) acg (T) aaa (K) gta (V) ctc (L) original frameshift length = 14 frameshift length = 14 frameshifted sequence: acg (T) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: acg (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acg (T) acg (T) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 13 1494 E 1506 * 13 large_intestine APC 1 c.4480_4483delGAAA p.E1494fs*12 length of cdnaseq = 8532 length of protseq = 2843 4480 4483 GAAA 4 1494 1 1495 1 gaaa Total no. of codons in cdna seq = 2844 gaa agt prev g start g-g end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tga at posn 1505 Protein length after deletion = 1504 Total no. of codons in del cdnaseq = 2843 last codon in array is aa ttt (F) gcc (A) acg (T) gaa (E) agt (S) act (T) cca (P) gat (D) gga (G) ttt (F) gcc (A) acg (T) gta (V) ctc (L) cag (Q) atg (M) original frameshift length = 12 frameshift length = 12 frameshifted sequence: gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gaa (E) agt (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 12 1494 E 1505 * 12 large_intestine APC 1 c.4482_4482delA p.S1495fs*12 length of cdnaseq = 8532 length of protseq = 2843 4482 4482 A 1 1494 3 1494 3 a Total no. of codons in cdna seq = 2844 gaa gaa start a-a post a end a-a ga- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ttt (F) gcc (A) acg (T) gaa (E) gaa (E) agt (S) act (T) cca (P) gat (D) ttt (F) gcc (A) acg (T) gaa (E) gta (V) ctc (L) cag (Q) original frameshift length = 13 frameshift length = 13 frameshifted sequence: gaa (E) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 12 1495 S 1506 * 12 large_intestine APC 1 c.4483_4483delA p.S1495fs*12 length of cdnaseq = 8532 length of protseq = 2843 4483 4483 A 1 1495 1 1495 1 a Total no. of codons in cdna seq = 2844 agt agt prev a start a-a end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gcc (A) acg (T) gaa (E) agt (S) agt (S) act (T) cca (P) gat (D) gga (G) gcc (A) acg (T) gaa (E) gta (V) ctc (L) cag (Q) atg (M) original frameshift length = 12 frameshift length = 12 frameshifted sequence: gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 12 1495 S 1506 * 12 large_intestine APC 1 c.4488_4488delT p.P1497fs*10 length of cdnaseq = 8532 length of protseq = 2843 4488 4488 T 1 1496 3 1496 3 t Total no. of codons in cdna seq = 2844 act act start c-t post c end t-c ac- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa acg (T) gaa (E) agt (S) act (T) act (T) cca (P) gat (D) gga (G) ttt (F) acg (T) gaa (E) agt (S) acc (T) cag (Q) atg (M) gat (D) original frameshift length = 11 frameshift length = 11 frameshifted sequence: acc (T) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: act (T) acc (T) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 10 1497 P 1506 * 10 large_intestine APC 1 c.4488_4498del11 p.P1497fs*13 length of cdnaseq = 8532 length of protseq = 2843 4488 4498 11 11 1496 3 1500 1 tccagatggat Total no. of codons in cdna seq = 2844 act ttt start c-t end t-t ac- -tt frameshift deletion length of cdnaseq after deletion = 8521 ter codon is tga at posn 1509 Protein length after deletion = 1508 Total no. of codons in del cdnaseq = 2841 last codon in array is a acg (T) gaa (E) agt (S) act (T) ttt (F) tct (S) tgt (C) tca (S) tcc (S) acg (T) gaa (E) agt (S) act (T) ttc (F) ttg (L) ttc (F) original frameshift length = 14 frameshift length = 14 frameshifted sequence: act (T) ttc (F) ttg (L) ttc (F) atc (I) cag (Q) cct (P) gag (E) tgc (C) tct (S) gag (E) cct (P) cga (R) tga (TER) wild type sequence in deletion region: act (T) cca (P) gat (D) gga (G) ttt (F) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: act (T) act (T) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 13 1497 P 1509 * 13 large_intestine APC 1 c.4489_4489delC p.P1497fs*10 length of cdnaseq = 8532 length of protseq = 2843 4489 4489 C 1 1497 1 1497 1 c Total no. of codons in cdna seq = 2844 cca cca prev t start t-c end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gaa (E) agt (S) act (T) cca (P) cca (P) gat (D) gga (G) ttt (F) tct (S) gaa (E) agt (S) act (T) cag (Q) atg (M) gat (D) ttt (F) original frameshift length = 10 frameshift length = 10 frameshifted sequence: cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 10 1497 P 1506 * 10 large_intestine APC 1 c.4491_4503del13 p.D1498fs*5 length of cdnaseq = 8532 length of protseq = 2843 4491 4503 13 13 1497 3 1501 3 agatggattttct Total no. of codons in cdna seq = 2844 cca tct start c-a post t end t-t cc- --- frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 1502 Protein length after deletion = 1501 Total no. of codons in del cdnaseq = 2840 last codon in array is aa gaa (E) agt (S) act (T) cca (P) tct (S) tgt (C) tca (S) tcc (S) agc (S) gaa (E) agt (S) act (T) cct (P) gtt (V) cat (H) cca (P) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cct (P) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: cca (P) gat (D) gga (G) ttt (F) tct (S) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: cca (P) cct (P) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 5 1498 D 1502 * 5 large_intestine APC 1 c.4492_4504del13 p.D1498fs*5 length of cdnaseq = 8532 length of protseq = 2843 4492 4504 13 13 1498 1 1502 1 gatggattttctt Total no. of codons in cdna seq = 2844 gat tgt prev a start a-g end t-g --- -gt frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 1502 Protein length after deletion = 1501 Total no. of codons in del cdnaseq = 2840 last codon in array is aa agt (S) act (T) cca (P) gat (D) tgt (C) tca (S) tcc (S) agc (S) ctg (L) agt (S) act (T) cca (P) gtt (V) cat (H) cca (P) gcc (A) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gat (D) gga (G) ttt (F) tct (S) tgt (C) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 5 1498 D 1502 * 5 large_intestine APC 1 c.4494_4494delT p.D1498fs*9 length of cdnaseq = 8532 length of protseq = 2843 4494 4494 T 1 1498 3 1498 3 t Total no. of codons in cdna seq = 2844 gat gat start a-t post g end t-g ga- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agt (S) act (T) cca (P) gat (D) gat (D) gga (G) ttt (F) tct (S) tgt (C) agt (S) act (T) cca (P) gag (E) gat (D) ttt (F) ctt (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gag (E) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 9 1498 D 1506 * 9 large_intestine APC 1 c.4495_4495delG p.G1499fs*8 length of cdnaseq = 8532 length of protseq = 2843 4495 4495 G 1 1499 1 1499 1 g Total no. of codons in cdna seq = 2844 gga gga prev t start t-g end g-g --- -ga frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa act (T) cca (P) gat (D) gga (G) gga (G) ttt (F) tct (S) tgt (C) tca (S) act (T) cca (P) gat (D) gat (D) ttt (F) ctt (L) gtt (V) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 8 1499 G 1506 * 8 large_intestine APC 1 c.4501_4501delT p.S1501fs*6 length of cdnaseq = 8532 length of protseq = 2843 4501 4501 T 1 1501 1 1501 1 t Total no. of codons in cdna seq = 2844 tct tct prev t start t-t end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gat (D) gga (G) ttt (F) tct (S) tct (S) tgt (C) tca (S) tcc (S) agc (S) gat (D) gga (G) ttt (F) ctt (L) gtt (V) cat (H) cca (P) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 6 1501 S 1506 * 6 large_intestine APC 1 c.4506_4516del11 p.S1503fs*7 length of cdnaseq = 8532 length of protseq = 2843 4506 4516 11 11 1502 3 1506 1 ttcatccagcc Total no. of codons in cdna seq = 2844 tgt ctg start g-t end c-t tg- -tg frameshift deletion length of cdnaseq after deletion = 8521 ter codon is tga at posn 1509 Protein length after deletion = 1508 Total no. of codons in del cdnaseq = 2841 last codon in array is a gga (G) ttt (F) tct (S) tgt (C) ctg (L) agt (S) gct (A) ctg (L) agc (S) gga (G) ttt (F) tct (S) tgt (C) gag (E) tgc (C) tct (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: tgt (C) gag (E) tgc (C) tct (S) gag (E) cct (P) cga (R) tga (TER) wild type sequence in deletion region: tgt (C) tca (S) tcc (S) agc (S) ctg (L) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: tgt (C) tgt (C) first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 7 1503 S 1509 * 7 large_intestine APC 1 c.4520_4526delGTGCTCT p.S1507fs*14 length of cdnaseq = 8532 length of protseq = 2843 4520 4526 GTGCTCT 7 1507 2 1509 2 gtgctct Total no. of codons in cdna seq = 2844 agt ctg start a-g end t-g a-- --g frameshift deletion length of cdnaseq after deletion = 8525 ter codon is taa at posn 1520 Protein length after deletion = 1519 Total no. of codons in del cdnaseq = 2842 last codon in array is aa tcc (S) agc (S) ctg (L) agt (S) ctg (L) agc (S) ctc (L) gat (D) gag (E) tcc (S) agc (S) ctg (L) aga (R) gcc (A) tcg (S) atg (M) original frameshift length = 14 frameshift length = 14 frameshifted sequence: aga (R) gcc (A) tcg (S) atg (M) agc (S) cat (H) tta (L) tac (Y) aga (R) aag (K) atg (M) tgg (W) aat (N) taa (TER) wild type sequence in deletion region: agt (S) gct (A) ctg (L) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 14 1507 S 1520 * 14 large_intestine APC 1 c.4552_4552delA p.D1519fs*4 length of cdnaseq = 8532 length of protseq = 2843 4552 4552 A 1 1518 1 1518 1 a Total no. of codons in cdna seq = 2844 aaa aaa prev g start g-a end a-a --- -aa frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1522 Protein length after deletion = 1521 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ttt (F) ata (I) cag (Q) aaa (K) aaa (K) gat (D) gtg (V) gaa (E) tta (L) ttt (F) ata (I) cag (Q) aag (K) atg (M) tgg (W) aat (N) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aag (K) atg (M) tgg (W) aat (N) taa (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 4 1519 D 1522 * 4 large_intestine APC 1 c.4553_4565del13 p.D1519fs*2 length of cdnaseq = 8532 length of protseq = 2843 4553 4565 13 13 1518 2 1522 2 aagatgtggaatt Total no. of codons in cdna seq = 2844 aaa tta start a-a end t-a a-- --a frameshift deletion length of cdnaseq after deletion = 8519 ter codon is taa at posn 1520 Protein length after deletion = 1519 Total no. of codons in del cdnaseq = 2840 last codon in array is aa ttt (F) ata (I) cag (Q) aaa (K) tta (L) aga (R) ata (I) atg (M) cct (P) ttt (F) ata (I) cag (Q) aaa (K) gaa (E) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aaa (K) gaa (E) taa (TER) wild type sequence in deletion region: aaa (K) gat (D) gtg (V) gaa (E) tta (L) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 2 1519 D 1520 * 2 large_intestine APC 1 c.4592_4592delA p.N1531fs*34 length of cdnaseq = 8532 length of protseq = 2843 4592 4592 A 1 1531 2 1531 2 a Total no. of codons in cdna seq = 2844 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1564 Protein length after deletion = 1563 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gtt (V) cag (Q) gaa (E) aat (N) aat (N) gac (D) aat (N) ggg (G) aat (N) gtt (V) cag (Q) gaa (E) atg (M) aca (T) atg (M) gga (G) original frameshift length = 34 frameshift length = 34 frameshifted sequence: atg (M) aca (T) atg (M) gga (G) atg (M) aaa (K) cag (Q) aat (N) cag (Q) agc (S) agc (S) cta (L) aag (K) aat (N) caa (Q) atg (M) aaa (K) acc (T) aag (K) aga (R) aag (K) agg (R) cag (Q) aaa (K) aaa (K) cta (L) ttg (L) att (I) ctg (L) aaa (K) agg (R) acc (T) tat (Y) tag (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 34 1531 N 1564 * 34 large_intestine APC 1 c.4661_4661delA p.T1556fs*9 length of cdnaseq = 8532 length of protseq = 2843 4661 4661 A 1 1554 2 1554 2 a Total no. of codons in cdna seq = 2844 gaa gaa start g-a end a-a g-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1564 Protein length after deletion = 1563 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aaa (K) gag (E) gca (A) gaa (E) gaa (E) aaa (K) act (T) att (I) gat (D) aaa (K) gag (E) gca (A) gaa (E) aaa (K) cta (L) ttg (L) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gaa (E) aaa (K) cta (L) ttg (L) att (I) ctg (L) aaa (K) agg (R) acc (T) tat (Y) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 9 1556 T 1564 * 9 large_intestine APC 1 c.4666delA p.T1556fs*9 length of cdnaseq = 8532 length of protseq = 2843 4666 4666 A 1 1556 1 1556 1 a Total no. of codons in cdna seq = 2844 act act prev a start a-a end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1564 Protein length after deletion = 1563 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gca (A) gaa (E) aaa (K) act (T) act (T) att (I) gat (D) tct (S) gaa (E) gca (A) gaa (E) aaa (K) cta (L) ttg (L) att (I) ctg (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: cta (L) ttg (L) att (I) ctg (L) aaa (K) agg (R) acc (T) tat (Y) tag (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 9 1556 T 1564 * 9 large_intestine APC 1 c.4726_4726delG p.E1576fs*74 length of cdnaseq = 8532 length of protseq = 2843 4726 4726 G 1 1576 1 1576 1 g Total no. of codons in cdna seq = 2844 gaa gaa prev a start a-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1649 Protein length after deletion = 1648 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gaa (E) ata (I) cta (L) gaa (E) gaa (E) gaa (E) tgt (C) att (I) att (I) gaa (E) ata (I) cta (L) aag (K) aat (N) gta (V) tta (L) original frameshift length = 74 frameshift length = 74 frameshifted sequence: aag (K) aat (N) gta (V) tta (L) ttt (F) ctg (L) cca (P) tgc (C) caa (Q) caa (Q) agt (S) cat (H) cac (H) gta (V) aag (K) caa (Q) aaa (K) agc (S) cag (Q) ccc (P) aga (R) ctg (L) ctt (L) caa (Q) aat (N) tac (Y) ctc (L) cac (H) ctg (L) tgg (W) caa (Q) gga (G) aac (N) caa (Q) gtc (V) agc (S) tgc (C) ctg (L) tgt (C) aca (T) aac (N) ttc (F) tac (Y) cat (H) cac (H) aaa (K) aca (T) ggt (G) tgc (C) aac (N) ccc (P) aaa (K) agc (S) atg (M) tta (L) gtt (V) tta (L) cac (H) cgg (R) ggg (G) atg (M) ata (I) tgc (C) cac (H) ggg (G) tgt (C) att (I) gtg (V) ttg (L) aag (K) gga (G) cac (H) cta (L) taa (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 74 1576 E 1649 * 74 large_intestine APC 1 c.4738_4741delATTT p.I1580fs*69 length of cdnaseq = 8532 length of protseq = 2843 4738 4741 ATTT 4 1580 1 1581 1 attt Total no. of codons in cdna seq = 2844 att tct prev t start t-a end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1648 Protein length after deletion = 1647 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gaa (E) tgt (C) att (I) att (I) tct (S) gcc (A) atg (M) cca (P) aca (T) gaa (E) tgt (C) att (I) ctg (L) cca (P) tgc (C) caa (Q) original frameshift length = 69 frameshift length = 69 frameshifted sequence: ctg (L) cca (P) tgc (C) caa (Q) caa (Q) agt (S) cat (H) cac (H) gta (V) aag (K) caa (Q) aaa (K) agc (S) cag (Q) ccc (P) aga (R) ctg (L) ctt (L) caa (Q) aat (N) tac (Y) ctc (L) cac (H) ctg (L) tgg (W) caa (Q) gga (G) aac (N) caa (Q) gtc (V) agc (S) tgc (C) ctg (L) tgt (C) aca (T) aac (N) ttc (F) tac (Y) cat (H) cac (H) aaa (K) aca (T) ggt (G) tgc (C) aac (N) ccc (P) aaa (K) agc (S) atg (M) tta (L) gtt (V) tta (L) cac (H) cgg (R) ggg (G) atg (M) ata (I) tgc (C) cac (H) ggg (G) tgt (C) att (I) gtg (V) ttg (L) aag (K) gga (G) cac (H) cta (L) taa (TER) wild type sequence in deletion region: att (I) tct (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 69 1580 I 1648 * 69 large_intestine APC 1 c.4883_4883delA p.K1628fs*22 length of cdnaseq = 8532 length of protseq = 2843 4883 4883 A 1 1628 2 1628 2 a Total no. of codons in cdna seq = 2844 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1649 Protein length after deletion = 1648 Total no. of codons in del cdnaseq = 2844 last codon in array is aa caa (Q) ccc (P) caa (Q) aag (K) aag (K) cat (H) gtt (V) agt (S) ttt (F) caa (Q) ccc (P) caa (Q) agc (S) atg (M) tta (L) gtt (V) original frameshift length = 22 frameshift length = 22 frameshifted sequence: agc (S) atg (M) tta (L) gtt (V) tta (L) cac (H) cgg (R) ggg (G) atg (M) ata (I) tgc (C) cac (H) ggg (G) tgt (C) att (I) gtg (V) ttg (L) aag (K) gga (G) cac (H) cta (L) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 22 1628 K 1649 * 22 large_intestine APC 1 c.563_570delAATTGGAA p.Q188fs*2 length of cdnaseq = 8532 length of protseq = 2843 563 570 AATTGGAA 8 188 2 190 3 aattggaa Total no. of codons in cdna seq = 2844 caa gaa start c-a post t end a-t c-- --- frameshift deletion length of cdnaseq after deletion = 8524 ter codon is tga at posn 189 Protein length after deletion = 188 Total no. of codons in del cdnaseq = 2842 last codon in array is a acc (T) aga (R) agg (R) caa (Q) gaa (E) tat (Y) gaa (E) gca (A) agg (R) acc (T) aga (R) agg (R) cta (L) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: cta (L) tga (TER) wild type sequence in deletion region: caa (Q) ttg (L) gaa (E) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 2 188 Q 189 * 2 large_intestine APC 1 c.589_590delAG p.R197fs*54 length of cdnaseq = 8532 length of protseq = 2843 589 590 AG 2 197 1 197 2 ag Total no. of codons in cdna seq = 2844 aga aga prev c start c-a end g-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 2844 last codon in array is a agg (R) caa (Q) atc (I) aga (R) aga (R) gtt (V) gcg (A) atg (M) gaa (E) agg (R) caa (Q) atc (I) agt (S) tgc (C) gat (D) gga (G) original frameshift length = 54 frameshift length = 54 frameshifted sequence: agt (S) tgc (C) gat (D) gga (G) aga (R) aca (T) act (T) agg (R) tac (Y) ctg (L) cca (P) gga (G) tat (Y) gga (G) aaa (K) acg (T) agc (S) aca (T) gcg (A) aag (K) aat (N) agc (S) cag (Q) aat (N) tca (S) gca (A) aat (N) cga (R) aaa (K) gga (G) cat (H) act (T) tcg (S) tat (Y) acg (T) aca (T) gct (A) ttt (F) aca (T) gtc (V) cca (P) agc (S) aac (N) aga (R) agc (S) aga (R) gag (E) gtc (V) atc (I) tca (S) gaa (E) caa (Q) gca (A) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 54 197 R 250 * 54 large_intestine APC 1 c.6525_6526delAT p.L2176fs*3 length of cdnaseq = 8532 length of protseq = 2843 6525 6526 AT 2 2175 3 2176 1 at Total no. of codons in cdna seq = 2844 aca ttg start c-a end t-t ac- -tg frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 2178 Protein length after deletion = 2177 Total no. of codons in del cdnaseq = 2844 last codon in array is a gag (E) aaa (K) agt (S) aca (T) ttg (L) gaa (E) act (T) aaa (K) aag (K) gag (E) aaa (K) agt (S) act (T) gga (G) aac (N) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: act (T) gga (G) aac (N) taa (TER) wild type sequence in deletion region: aca (T) ttg (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aca (T) act (T) first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 3 2176 L 2178 * 3 large_intestine APC 1 c.6680_6680delG p.G2227fs*4 length of cdnaseq = 8532 length of protseq = 2843 6680 6680 G 1 2227 2 2227 2 g Total no. of codons in cdna seq = 2844 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 2230 Protein length after deletion = 2229 Total no. of codons in del cdnaseq = 2844 last codon in array is aa atc (I) tct (S) cga (R) ggc (G) ggc (G) agg (R) aca (T) atg (M) att (I) atc (I) tct (S) cga (R) gca (A) gga (G) caa (Q) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gca (A) gga (G) caa (Q) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 4 2227 G 2230 * 4 large_intestine APC 1 c.7365_7365delA p.K2455fs*30 length of cdnaseq = 8532 length of protseq = 2843 7365 7365 A 1 2455 3 2455 3 a Total no. of codons in cdna seq = 2844 aaa aaa start a-a post t end a-t aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 2484 Protein length after deletion = 2483 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tta (L) aga (R) aga (R) aaa (K) aaa (K) ttg (L) gag (E) gaa (E) tct (S) tta (L) aga (R) aga (R) aat (N) tgg (W) agg (R) aat (N) original frameshift length = 30 frameshift length = 30 frameshifted sequence: aat (N) tgg (W) agg (R) aat (N) ctg (L) ctt (L) cat (H) ttg (L) aat (N) ctc (L) ttt (F) ctc (L) cat (H) cat (H) cta (L) gac (D) cag (Q) ctt (L) ctc (L) cca (P) cta (L) ggt (G) ccc (P) agg (R) cac (H) aaa (K) ctc (L) cag (Q) ttt (F) taa (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 30 2455 K 2484 * 30 large_intestine APC 1 c.748_748delC p.H250fs*43 length of cdnaseq = 8532 length of protseq = 2843 748 748 C 1 250 1 250 1 c Total no. of codons in cdna seq = 2844 cat cat prev g start g-c end c-a --- -at frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 292 Protein length after deletion = 291 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cag (Q) aac (N) aag (K) cat (H) cat (H) gaa (E) acc (T) ggc (G) tca (S) cag (Q) aac (N) aag (K) atg (M) aaa (K) ccg (P) gct (A) original frameshift length = 43 frameshift length = 43 frameshifted sequence: atg (M) aaa (K) ccg (P) gct (A) cac (H) atg (M) atg (M) ctg (L) agc (S) ggc (G) aga (R) atg (M) aag (K) gtc (V) aag (K) gag (E) tgg (W) gag (E) aaa (K) tca (S) aca (T) tgg (W) caa (Q) ctt (L) ctg (L) gta (V) atg (M) gtc (V) agg (R) gtt (V) caa (Q) cta (L) cac (H) gaa (E) tgg (W) acc (T) atg (M) aaa (K) cag (Q) cca (P) gtg (V) ttt (F) tga (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 43 250 H 292 * 43 large_intestine APC 1 c.893_894delAC p.H298fs*28 length of cdnaseq = 8532 length of protseq = 2843 893 894 AC 2 298 2 298 3 ac Total no. of codons in cdna seq = 2844 cac cac start c-a post t end c-t c-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 325 Protein length after deletion = 324 Total no. of codons in del cdnaseq = 2844 last codon in array is a agt (S) agc (S) aca (T) cac (H) cac (H) tct (S) gca (A) cct (P) cga (R) agt (S) agc (S) aca (T) ctc (L) tgc (C) acc (T) tcg (S) original frameshift length = 28 frameshift length = 28 frameshifted sequence: ctc (L) tgc (C) acc (T) tcg (S) aag (K) gct (A) gac (D) aag (K) tca (S) tct (S) ggg (G) aac (N) caa (Q) ggt (G) gga (G) aat (N) ggt (G) gta (V) ttc (F) att (I) gtt (V) gtc (V) aat (N) gct (A) tgg (W) tac (Y) tca (S) tga (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 28 298 H 325 * 28 large_intestine APC 1 c.894_895delCT p.S299fs*27 length of cdnaseq = 8532 length of protseq = 2843 894 895 CT 2 298 3 299 1 ct Total no. of codons in cdna seq = 2844 cac tct start a-c end t-c ca- -ct frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 325 Protein length after deletion = 324 Total no. of codons in del cdnaseq = 2844 last codon in array is a agt (S) agc (S) aca (T) cac (H) tct (S) gca (A) cct (P) cga (R) agg (R) agt (S) agc (S) aca (T) cac (H) tgc (C) acc (T) tcg (S) original frameshift length = 28 frameshift length = 28 frameshifted sequence: cac (H) tgc (C) acc (T) tcg (S) aag (K) gct (A) gac (D) aag (K) tca (S) tct (S) ggg (G) aac (N) caa (Q) ggt (G) gga (G) aat (N) ggt (G) gta (V) ttc (F) att (I) gtt (V) gtc (V) aat (N) gct (A) tgg (W) tac (Y) tca (S) tga (TER) wild type sequence in deletion region: cac (H) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cac (H) cac (H) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 27 299 S 325 * 27 liver APC 1 c.1702_1702delA p.S568fs*2 length of cdnaseq = 8532 length of protseq = 2843 1702 1702 A 1 568 1 568 1 a Total no. of codons in cdna seq = 2844 agt agt prev a start a-a end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 569 Protein length after deletion = 568 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gaa (E) gtt (V) gga (G) agt (S) agt (S) gtg (V) aaa (K) gca (A) ttg (L) gaa (E) gtt (V) gga (G) gtg (V) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gtg (V) tga (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 2 568 S 569 * 2 lung APC 1 c.4394_4395delGT p.S1465fs*3 length of cdnaseq = 8532 length of protseq = 2843 4394 4395 GT 2 1465 2 1465 3 gt Total no. of codons in cdna seq = 2844 agt agt start a-g post g end t-g a-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a aag (K) aga (R) gag (E) agt (S) agt (S) gga (G) cct (P) aag (K) caa (Q) aag (K) aga (R) gag (E) agg (R) acc (T) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: agg (R) acc (T) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 1465 S 1467 * 3 pancreas APC 1 c.2571_2575delAATTG p.I858fs*52 length of cdnaseq = 8532 length of protseq = 2843 2571 2575 AATTG 5 857 3 859 1 aattg Total no. of codons in cdna seq = 2844 gga ggt start g-a end g-g gg- -gt frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tga at posn 909 Protein length after deletion = 908 Total no. of codons in del cdnaseq = 2843 last codon in array is a aga (R) gaa (E) cgc (R) gga (G) ggt (G) cta (L) ggc (G) aac (N) tac (Y) aga (R) gaa (E) cgc (R) ggg (G) tct (S) agg (R) caa (Q) original frameshift length = 53 frameshift length = 53 frameshifted sequence: ggg (G) tct (S) agg (R) caa (Q) cta (L) cca (P) tcc (S) agc (S) aac (N) aga (R) aaa (K) tcc (S) agg (R) aac (N) ttc (F) ttc (F) aaa (K) gcg (A) agg (R) ttt (F) gca (A) gat (D) ctc (L) cac (H) cac (H) tgc (C) agc (S) cca (P) gat (D) tgc (C) caa (Q) agt (S) cat (H) gga (G) aga (R) agt (S) gtc (V) agc (S) cat (H) tca (S) tac (Y) ctc (L) tca (S) gga (G) aga (R) cag (Q) aag (K) ttc (F) tgg (W) gtc (V) tac (Y) cac (H) tga (TER) wild type sequence in deletion region: gga (G) att (I) ggt (G) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: gga (G) ggg (G) first wt aa affected by frameshift deletion is : att (I) final frameshift length = 52 858 I 909 * 52 pancreas APC 1 c.3016_3016delC p.H1006fs*16 length of cdnaseq = 8532 length of protseq = 2843 3016 3016 C 1 1006 1 1006 1 c Total no. of codons in cdna seq = 2844 cat cat prev c start c-c end c-a --- -at frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1021 Protein length after deletion = 1020 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gac (D) cta (L) gcc (A) cat (H) cat (H) aaa (K) ata (I) cat (H) agt (S) gac (D) cta (L) gcc (A) ata (I) aaa (K) tac (Y) ata (I) original frameshift length = 16 frameshift length = 16 frameshifted sequence: ata (I) aaa (K) tac (Y) ata (I) gtg (V) caa (Q) atc (I) ata (I) tgg (W) atg (M) ata (I) atg (M) atg (M) gag (E) aac (N) tag (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 16 1006 H 1021 * 16 pancreas APC 1 c.4391_4394delAGAG p.E1464fs*8 length of cdnaseq = 8532 length of protseq = 2843 4391 4394 AGAG 4 1464 2 1465 2 agag Total no. of codons in cdna seq = 2844 gag agt start g-a end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) aag (K) caa (Q) gaa (E) aag (K) aga (R) gtg (V) gac (D) cta (L) agc (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: gag (E) agt (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 8 1464 E 1471 * 8 pancreas APC 1 c.4393_4394delAG p.S1465fs*3 length of cdnaseq = 8532 length of protseq = 2843 4393 4394 AG 2 1465 1 1465 2 ag Total no. of codons in cdna seq = 2844 agt agt prev g start g-a end g-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a aag (K) aga (R) gag (E) agt (S) agt (S) gga (G) cct (P) aag (K) caa (Q) aag (K) aga (R) gag (E) tgg (W) acc (T) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tgg (W) acc (T) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 1465 S 1467 * 3 prostate APC 1 c.4393_4394delAG p.S1465fs*3 length of cdnaseq = 8532 length of protseq = 2843 4393 4394 AG 2 1465 1 1465 2 ag Total no. of codons in cdna seq = 2844 agt agt prev g start g-a end g-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a aag (K) aga (R) gag (E) agt (S) agt (S) gga (G) cct (P) aag (K) caa (Q) aag (K) aga (R) gag (E) tgg (W) acc (T) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tgg (W) acc (T) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 1465 S 1467 * 3 small_intestine APC 1 c.4050_4050delA p.A1351fs*64 length of cdnaseq = 8532 length of protseq = 2843 4050 4050 A 1 1350 3 1350 3 a Total no. of codons in cdna seq = 2844 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gcc (A) agg (R) cac (H) aaa (K) aaa (K) gct (A) gtt (V) gaa (E) ttt (F) gcc (A) agg (R) cac (H) aag (K) ctg (L) ttg (L) aat (N) original frameshift length = 65 frameshift length = 65 frameshifted sequence: aag (K) ctg (L) ttg (L) aat (N) ttt (F) ctt (L) cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 64 1351 A 1414 * 64 small_intestine APC 1 c.4391_4392delAG p.S1465fs*3 length of cdnaseq = 8532 length of protseq = 2843 4391 4392 AG 2 1464 2 1464 3 ag Total no. of codons in cdna seq = 2844 gag gag start g-a post a end g-a g-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a gaa (E) aag (K) aga (R) gag (E) gag (E) agt (S) gga (G) cct (P) aag (K) gaa (E) aag (K) aga (R) gag (E) tgg (W) acc (T) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gag (E) tgg (W) acc (T) taa (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 1465 S 1467 * 3 small_intestine APC 1 c.4464_4464delA p.L1488fs*19 length of cdnaseq = 8532 length of protseq = 2843 4464 4464 A 1 1488 3 1488 3 a Total no. of codons in cdna seq = 2844 tta tta start t-a post t end a-t tt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) gat (D) act (T) tta (L) tta (L) tta (L) cat (H) ttt (F) gcc (A) gct (A) gat (D) act (T) ttt (F) tac (Y) att (I) ttg (L) original frameshift length = 19 frameshift length = 19 frameshifted sequence: ttt (F) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 19 1488 L 1506 * 19 small_intestine APC 1 c.4519_4520delAG p.S1507fs*6 length of cdnaseq = 8532 length of protseq = 2843 4519 4520 AG 2 1507 1 1507 2 ag Total no. of codons in cdna seq = 2844 agt agt prev g start g-a end g-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1512 Protein length after deletion = 1511 Total no. of codons in del cdnaseq = 2844 last codon in array is a tcc (S) agc (S) ctg (L) agt (S) agt (S) gct (A) ctg (L) agc (S) ctc (L) tcc (S) agc (S) ctg (L) tgc (C) tct (S) gag (E) cct (P) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tgc (C) tct (S) gag (E) cct (P) cga (R) tga (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 6 1507 S 1512 * 6 small_intestine APC 1 c.4643_4643delA p.N1548fs*17 length of cdnaseq = 8532 length of protseq = 2843 4643 4643 A 1 1548 2 1548 2 a Total no. of codons in cdna seq = 2844 aac aac start a-a end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1564 Protein length after deletion = 1563 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tca (S) aat (N) gaa (E) aac (N) aac (N) caa (Q) gag (E) aaa (K) gag (E) tca (S) aat (N) gaa (E) acc (T) aag (K) aga (R) aag (K) original frameshift length = 17 frameshift length = 17 frameshifted sequence: acc (T) aag (K) aga (R) aag (K) agg (R) cag (Q) aaa (K) aaa (K) cta (L) ttg (L) att (I) ctg (L) aaa (K) agg (R) acc (T) tat (Y) tag (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 17 1548 N 1564 * 17 small_intestine APC 1 c.4666delA p.T1556fs*9 length of cdnaseq = 8532 length of protseq = 2843 4666 4666 A 1 1556 1 1556 1 a Total no. of codons in cdna seq = 2844 act act prev a start a-a end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1564 Protein length after deletion = 1563 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gca (A) gaa (E) aaa (K) act (T) act (T) att (I) gat (D) tct (S) gaa (E) gca (A) gaa (E) aaa (K) cta (L) ttg (L) att (I) ctg (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: cta (L) ttg (L) att (I) ctg (L) aaa (K) agg (R) acc (T) tat (Y) tag (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 9 1556 T 1564 * 9 soft_tissue APC 1 c.3183_3187delACAAA p.Q1062fs*1 length of cdnaseq = 8532 length of protseq = 2843 3183 3187 ACAAA 5 1061 3 1063 1 acaaa Total no. of codons in cdna seq = 2844 aaa agt start a-a end a-g aa- -gt frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tga at posn 1062 Protein length after deletion = 1061 Total no. of codons in del cdnaseq = 2843 last codon in array is a gat (D) gaa (E) ata (I) aaa (K) agt (S) gag (E) caa (Q) aga (R) caa (Q) gat (D) gaa (E) ata (I) aag (K) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aag (K) tga (TER) wild type sequence in deletion region: aaa (K) caa (Q) agt (S) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 1 1062 Q 1062 * 1 soft_tissue APC 1 c.3202_3205delTCAA p.S1068fs*57 length of cdnaseq = 8532 length of protseq = 2843 3202 3205 TCAA 4 1068 1 1069 1 tcaa Total no. of codons in cdna seq = 2844 tca agg prev a start a-t end a-g --- -gg frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1124 Protein length after deletion = 1123 Total no. of codons in del cdnaseq = 2843 last codon in array is aa caa (Q) aga (R) caa (Q) tca (S) agg (R) aat (N) caa (Q) agt (S) aca (T) caa (Q) aga (R) caa (Q) gga (G) atc (I) aaa (K) gta (V) original frameshift length = 57 frameshift length = 57 frameshifted sequence: gga (G) atc (I) aaa (K) gta (V) caa (Q) ctt (L) atc (I) ctg (L) ttt (F) ata (I) ctg (L) aga (R) gca (A) ctg (L) atg (M) ata (I) aac (N) acc (T) tca (S) agt (S) tcc (S) aac (N) cac (H) att (I) ttg (L) gac (D) agc (S) agg (R) aat (N) gtg (V) ttt (F) ctc (L) cat (H) aca (T) ggt (G) cac (H) ggg (G) gag (E) cca (P) atg (M) gtt (V) cag (Q) aaa (K) caa (Q) atc (I) gag (E) tgg (W) gtt (V) cta (L) atc (I) atg (M) gaa (E) tta (L) atc (I) aaa (K) atg (M) taa (TER) wild type sequence in deletion region: tca (S) agg (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 57 1068 S 1124 * 57 soft_tissue APC 1 c.3425_3447del23 p.N1142fs*5 length of cdnaseq = 8532 length of protseq = 2843 3425 3447 23 23 1142 2 1149 3 attatagtgaacgttactctgaa Total no. of codons in cdna seq = 2844 aat gaa start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 8509 ter codon is tga at posn 1146 Protein length after deletion = 1145 Total no. of codons in del cdnaseq = 2837 last codon in array is a aag (K) cct (P) acc (T) aat (N) gaa (E) gaa (E) gaa (E) cag (Q) cat (H) aag (K) cct (P) acc (T) aga (R) aga (R) aca (T) gca (A) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aga (R) aga (R) aca (T) gca (A) tga (TER) wild type sequence in deletion region: aat (N) tat (Y) agt (S) gaa (E) cgt (R) tac (Y) tct (S) gaa (E) wt frameshift deln region length = 8 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 5 1142 N 1146 * 5 soft_tissue APC 1 c.3575_5670del2096 p.K1192fs*3 length of cdnaseq = 8532 length of protseq = 2843 3575 5670 2096 2096 1192 2 1890 3 aacagtcattttcattctcaaagagttcatctggacaaagcagtaaaaccgaacatatgtcttcaagcagtgagaatacgtccacaccttcatctaatgccaagaggcagaatcagctccatccaagttctgcacagagtagaagtggtcagcctcaaaaggctgccacttgcaaagtttcttctattaaccaagaaacaatacagacttattgtgtagaagatactccaatatgtttttcaagatgtagttcattatcatctttgtcatcagctgaagatgaaataggatgtaatcagacgacacaggaagcagattctgctaataccctgcaaatagcagaaataaaagaaaagattggaactaggtcagctgaagatcctgtgagcgaagttccagcagtgtcacagcaccctagaaccaaatccagcagactgcagggttctagtttatcttcagaatcagccaggcacaaagctgttgaattttcttcaggagcgaaatctccctccaaaagtggtgctcagacacccaaaagtccacctgaacactatgttcaggagaccccactcatgtttagcagatgtacttctgtcagttcacttgatagttttgagagtcgttcgattgccagctccgttcagagtgaaccatgcagtggaatggtaagtggcattataagccccagtgatcttccagatagccctggacaaaccatgccaccaagcagaagtaaaacacctccaccacctcctcaaacagctcaaaccaagcgagaagtacctaaaaataaagcacctactgctgaaaagagagagagtggacctaagcaagctgcagtaaatgctgcagttcagagggtccaggttcttccagatgctgatactttattacattttgccacggaaagtactccagatggattttcttgttcatccagcctgagtgctctgagcctcgatgagccatttatacagaaagatgtggaattaagaataatgcctccagttcaggaaaatgacaatgggaatgaaacagaatcagagcagcctaaagaatcaaatgaaaaccaagagaaagaggcagaaaaaactattgattctgaaaaggacctattagatgattcagatgatgatgatattgaaatactagaagaatgtattatttctgccatgccaacaaagtcatcacgtaaagcaaaaaagccagcccagactgcttcaaaattacctccacctgtggcaaggaaaccaagtcagctgcctgtgtacaaacttctaccatcacaaaacaggttgcaaccccaaaagcatgttagttttacaccgggggatgatatgccacgggtgtattgtgttgaagggacacctataaacttttccacagctacatctctaagtgatctaacaatcgaatcccctccaaatgagttagctgctggagaaggagttagaggaggagcacagtcaggtgaatttgaaaaacgagataccattcctacagaaggcagaagtacagatgaggctcaaggaggaaaaacctcatctgtaaccatacctgaattggatgacaataaagcagaggaaggtgatattcttgcagaatgcattaattctgctatgcccaaagggaaaagtcacaagcctttccgtgtgaaaaagataatggaccaggtccagcaagcatctgcgtcgtcttctgcacccaacaaaaatcagttagatggtaagaaaaagaaaccaacttcaccagtaaaacctataccacaaaatactgaatataggacacgtgtaagaaaaaatgcagactcaaaaaataatttaaatgctgagagagttttctcagacaacaaagattcaaagaaacagaatttgaaaaataattccaaggacttcaatgataagctcccaaataatgaagatagagtcagaggaagttttgcttttgattcacctcatcattacacgcctattgaaggaactccttactgtttttcacgaaatgattctttgagttctctagattttgatgatgatgatgttgacctttccagggaaaaggctgaattaagaaaggcaaaagaaaataaggaatca Total no. of codons in cdna seq = 2844 aaa tca start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 6436 ter codon is taa at posn 1194 Protein length after deletion = 1193 Total no. of codons in del cdnaseq = 2146 last codon in array is a tca (S) tca (S) cag (Q) aaa (K) tca (S) gag (E) gct (A) aaa (K) gtt (V) tca (S) tca (S) cag (Q) aga (R) ggc (G) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aga (R) ggc (G) taa (TER) wild type sequence in deletion region: aaa (K) cag (Q) tca (S) ttt (F) tca (S) ttc (F) tca (S) aag (K) agt (S) tca (S) tct (S) gga (G) caa (Q) agc (S) agt (S) aaa (K) acc (T) gaa (E) cat (H) atg (M) tct (S) tca (S) agc (S) agt (S) gag (E) aat (N) acg (T) tcc (S) aca (T) cct (P) tca (S) tct (S) aat (N) gcc (A) aag (K) agg (R) cag (Q) aat (N) cag (Q) ctc (L) cat (H) cca (P) agt (S) tct (S) gca (A) cag (Q) agt (S) aga (R) agt (S) ggt (G) cag (Q) cct (P) caa (Q) aag (K) gct (A) gcc (A) act (T) tgc (C) aaa (K) gtt (V) tct (S) tct (S) att (I) aac (N) caa (Q) gaa (E) aca (T) ata (I) cag (Q) act (T) tat (Y) tgt (C) gta (V) gaa (E) gat (D) act (T) cca (P) ata (I) tgt (C) ttt (F) tca (S) aga (R) tgt (C) agt (S) tca (S) tta (L) tca (S) tct (S) ttg (L) tca (S) tca (S) gct (A) gaa (E) gat (D) gaa (E) ata (I) gga (G) tgt (C) aat (N) cag (Q) acg (T) aca (T) cag (Q) gaa (E) gca (A) gat (D) tct (S) gct (A) aat (N) acc (T) ctg (L) caa (Q) ata (I) gca (A) gaa (E) ata (I) aaa (K) gaa (E) aag (K) att (I) gga (G) act (T) agg (R) tca (S) gct (A) gaa (E) gat (D) cct (P) gtg (V) agc (S) gaa (E) gtt (V) cca (P) gca (A) gtg (V) tca (S) cag (Q) cac (H) cct (P) aga (R) acc (T) aaa (K) tcc (S) agc (S) aga (R) ctg (L) cag (Q) ggt (G) tct (S) agt (S) tta (L) tct (S) tca (S) gaa (E) tca (S) gcc (A) agg (R) cac (H) aaa (K) gct (A) gtt (V) gaa (E) ttt (F) tct (S) tca (S) gga (G) gcg (A) aaa (K) tct (S) ccc (P) tcc (S) aaa (K) agt (S) ggt (G) gct (A) cag (Q) aca (T) ccc (P) aaa (K) agt (S) cca (P) cct (P) gaa (E) cac (H) tat (Y) gtt (V) cag (Q) gag (E) acc (T) cca (P) ctc (L) atg (M) ttt (F) agc (S) aga (R) tgt (C) act (T) tct (S) gtc (V) agt (S) tca (S) ctt (L) gat (D) agt (S) ttt (F) gag (E) agt (S) cgt (R) tcg (S) att (I) gcc (A) agc (S) tcc (S) gtt (V) cag (Q) agt (S) gaa (E) cca (P) tgc (C) agt (S) gga (G) atg (M) gta (V) agt (S) ggc (G) att (I) ata (I) agc (S) ccc (P) agt (S) gat (D) ctt (L) cca (P) gat (D) agc (S) cct (P) gga (G) caa (Q) acc (T) atg (M) cca (P) cca (P) agc (S) aga (R) agt (S) aaa (K) aca (T) cct (P) cca (P) cca (P) cct (P) cct (P) caa (Q) aca (T) gct (A) caa (Q) acc (T) aag (K) cga (R) gaa (E) gta (V) cct (P) aaa (K) aat (N) aaa (K) gca (A) cct (P) act (T) gct (A) gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) aag (K) caa (Q) gct (A) gca (A) gta (V) aat (N) gct (A) gca (A) gtt (V) cag (Q) agg (R) gtc (V) cag (Q) gtt (V) ctt (L) cca (P) gat (D) gct (A) gat (D) act (T) tta (L) tta (L) cat (H) ttt (F) gcc (A) acg (T) gaa (E) agt (S) act (T) cca (P) gat (D) gga (G) ttt (F) tct (S) tgt (C) tca (S) tcc (S) agc (S) ctg (L) agt (S) gct (A) ctg (L) agc (S) ctc (L) gat (D) gag (E) cca (P) ttt (F) ata (I) cag (Q) aaa (K) gat (D) gtg (V) gaa (E) tta (L) aga (R) ata (I) atg (M) cct (P) cca (P) gtt (V) cag (Q) gaa (E) aat (N) gac (D) aat (N) ggg (G) aat (N) gaa (E) aca (T) gaa (E) tca (S) gag (E) cag (Q) cct (P) aaa (K) gaa (E) tca (S) aat (N) gaa (E) aac (N) caa (Q) gag (E) aaa (K) gag (E) gca (A) gaa (E) aaa (K) act (T) att (I) gat (D) tct (S) gaa (E) aag (K) gac (D) cta (L) tta (L) gat (D) gat (D) tca (S) gat (D) gat (D) gat (D) gat (D) att (I) gaa (E) ata (I) cta (L) gaa (E) gaa (E) tgt (C) att (I) att (I) tct (S) gcc (A) atg (M) cca (P) aca (T) aag (K) tca (S) tca (S) cgt (R) aaa (K) gca (A) aaa (K) aag (K) cca (P) gcc (A) cag (Q) act (T) gct (A) tca (S) aaa (K) tta (L) cct (P) cca (P) cct (P) gtg (V) gca (A) agg (R) aaa (K) cca (P) agt (S) cag (Q) ctg (L) cct (P) gtg (V) tac (Y) aaa (K) ctt (L) cta (L) cca (P) tca (S) caa (Q) aac (N) agg (R) ttg (L) caa (Q) ccc (P) caa (Q) aag (K) cat (H) gtt (V) agt (S) ttt (F) aca (T) ccg (P) ggg (G) gat (D) gat (D) atg (M) cca (P) cgg (R) gtg (V) tat (Y) tgt (C) gtt (V) gaa (E) ggg (G) aca (T) cct (P) ata (I) aac (N) ttt (F) tcc (S) aca (T) gct (A) aca (T) tct (S) cta (L) agt (S) gat (D) cta (L) aca (T) atc (I) gaa (E) tcc (S) cct (P) cca (P) aat (N) gag (E) tta (L) gct (A) gct (A) gga (G) gaa (E) gga (G) gtt (V) aga (R) gga (G) gga (G) gca (A) cag (Q) tca (S) ggt (G) gaa (E) ttt (F) gaa (E) aaa (K) cga (R) gat (D) acc (T) att (I) cct (P) aca (T) gaa (E) ggc (G) aga (R) agt (S) aca (T) gat (D) gag (E) gct (A) caa (Q) gga (G) gga (G) aaa (K) acc (T) tca (S) tct (S) gta (V) acc (T) ata (I) cct (P) gaa (E) ttg (L) gat (D) gac (D) aat (N) aaa (K) gca (A) gag (E) gaa (E) ggt (G) gat (D) att (I) ctt (L) gca (A) gaa (E) tgc (C) att (I) aat (N) tct (S) gct (A) atg (M) ccc (P) aaa (K) ggg (G) aaa (K) agt (S) cac (H) aag (K) cct (P) ttc (F) cgt (R) gtg (V) aaa (K) aag (K) ata (I) atg (M) gac (D) cag (Q) gtc (V) cag (Q) caa (Q) gca (A) tct (S) gcg (A) tcg (S) tct (S) tct (S) gca (A) ccc (P) aac (N) aaa (K) aat (N) cag (Q) tta (L) gat (D) ggt (G) aag (K) aaa (K) aag (K) aaa (K) cca (P) act (T) tca (S) cca (P) gta (V) aaa (K) cct (P) ata (I) cca (P) caa (Q) aat (N) act (T) gaa (E) tat (Y) agg (R) aca (T) cgt (R) gta (V) aga (R) aaa (K) aat (N) gca (A) gac (D) tca (S) aaa (K) aat (N) aat (N) tta (L) aat (N) gct (A) gag (E) aga (R) gtt (V) ttc (F) tca (S) gac (D) aac (N) aaa (K) gat (D) tca (S) aag (K) aaa (K) cag (Q) aat (N) ttg (L) aaa (K) aat (N) aat (N) tcc (S) aag (K) gac (D) ttc (F) aat (N) gat (D) aag (K) ctc (L) cca (P) aat (N) aat (N) gaa (E) gat (D) aga (R) gtc (V) aga (R) gga (G) agt (S) ttt (F) gct (A) ttt (F) gat (D) tca (S) cct (P) cat (H) cat (H) tac (Y) acg (T) cct (P) att (I) gaa (E) gga (G) act (T) cct (P) tac (Y) tgt (C) ttt (F) tca (S) cga (R) aat (N) gat (D) tct (S) ttg (L) agt (S) tct (S) cta (L) gat (D) ttt (F) gat (D) gat (D) gat (D) gat (D) gtt (V) gac (D) ctt (L) tcc (S) agg (R) gaa (E) aag (K) gct (A) gaa (E) tta (L) aga (R) aag (K) gca (A) aaa (K) gaa (E) aat (N) aag (K) gaa (E) tca (S) wt frameshift deln region length = 699 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 3 1192 K 1194 * 3 soft_tissue APC 1 c.3927_3931delAAAGA p.E1309fs*4 length of cdnaseq = 8532 length of protseq = 2843 3927 3931 AAAGA 5 1309 3 1311 1 aaaga Total no. of codons in cdna seq = 2844 gaa att start a-a end a-t ga- -tt frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a gaa (E) ata (I) aaa (K) gaa (E) att (I) gga (G) act (T) agg (R) tca (S) gaa (E) ata (I) aaa (K) gat (D) tgg (W) aac (N) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: gaa (E) aag (K) att (I) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 4 1309 E 1312 * 4 soft_tissue APC 1 c.4112_4112delG p.S1371fs*44 length of cdnaseq = 8532 length of protseq = 2843 4112 4112 G 1 1371 2 1371 2 g Total no. of codons in cdna seq = 2844 agt agt start a-g end g-t a-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aca (T) ccc (P) aaa (K) agt (S) agt (S) cca (P) cct (P) gaa (E) cac (H) aca (T) ccc (P) aaa (K) atc (I) cac (H) ctg (L) aac (N) original frameshift length = 44 frameshift length = 44 frameshifted sequence: atc (I) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 44 1371 S 1414 * 44 soft_tissue APC 1 c.4602_4602delG p.N1535fs*30 length of cdnaseq = 8532 length of protseq = 2843 4602 4602 G 1 1534 3 1534 3 g Total no. of codons in cdna seq = 2844 ggg ggg start g-g post a end g-a gg- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1564 Protein length after deletion = 1563 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aat (N) gac (D) aat (N) ggg (G) ggg (G) aat (N) gaa (E) aca (T) gaa (E) aat (N) gac (D) aat (N) gga (G) atg (M) aaa (K) cag (Q) original frameshift length = 31 frameshift length = 31 frameshifted sequence: gga (G) atg (M) aaa (K) cag (Q) aat (N) cag (Q) agc (S) agc (S) cta (L) aag (K) aat (N) caa (Q) atg (M) aaa (K) acc (T) aag (K) aga (R) aag (K) agg (R) cag (Q) aaa (K) aaa (K) cta (L) ttg (L) att (I) ctg (L) aaa (K) agg (R) acc (T) tat (Y) tag (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 30 1535 N 1564 * 30 soft_tissue APC 1 c.4666delA p.T1556fs*9 length of cdnaseq = 8532 length of protseq = 2843 4666 4666 A 1 1556 1 1556 1 a Total no. of codons in cdna seq = 2844 act act prev a start a-a end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1564 Protein length after deletion = 1563 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gca (A) gaa (E) aaa (K) act (T) act (T) att (I) gat (D) tct (S) gaa (E) gca (A) gaa (E) aaa (K) cta (L) ttg (L) att (I) ctg (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: cta (L) ttg (L) att (I) ctg (L) aaa (K) agg (R) acc (T) tat (Y) tag (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 9 1556 T 1564 * 9 stomach APC 1 c.3164_3168delTAATA p.I1055fs*3 length of cdnaseq = 8532 length of protseq = 2843 3164 3168 TAATA 5 1055 2 1056 3 taata Total no. of codons in cdna seq = 2844 ata ata start a-t post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tga at posn 1057 Protein length after deletion = 1056 Total no. of codons in del cdnaseq = 2843 last codon in array is a ccc (P) aaa (K) cac (H) ata (I) ata (I) gaa (E) gat (D) gaa (E) ata (I) ccc (P) aaa (K) cac (H) aga (R) aga (R) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aga (R) aga (R) tga (TER) wild type sequence in deletion region: ata (I) ata (I) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 3 1055 I 1057 * 3 stomach APC 1 c.3317_3317delG p.G1106fs*20 length of cdnaseq = 8532 length of protseq = 2843 3317 3317 G 1 1106 2 1106 2 g Total no. of codons in cdna seq = 2844 gga gga start g-g end g-a g-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1125 Protein length after deletion = 1124 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agg (R) tca (S) cgg (R) gga (G) gga (G) gcc (A) aat (N) ggt (G) tca (S) agg (R) tca (S) cgg (R) gag (E) cca (P) atg (M) gtt (V) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gag (E) cca (P) atg (M) gtt (V) cag (Q) aaa (K) caa (Q) atc (I) gag (E) tgg (W) gtt (V) cta (L) atc (I) atg (M) gaa (E) tta (L) atc (I) aaa (K) atg (M) taa (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 20 1106 G 1125 * 20 stomach APC 1 c.3467_3470delAAGA p.E1156fs*8 length of cdnaseq = 8532 length of protseq = 2843 3467 3470 AAGA 4 1156 2 1157 2 aaga Total no. of codons in cdna seq = 2844 gaa gag start g-a end a-g g-- --g frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1163 Protein length after deletion = 1162 Total no. of codons in del cdnaseq = 2843 last codon in array is aa cat (H) gaa (E) gaa (E) gaa (E) gag (E) aga (R) cca (P) aca (T) aat (N) cat (H) gaa (E) gaa (E) gga (G) gac (D) caa (Q) caa (Q) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gga (G) gac (D) caa (Q) caa (Q) att (I) ata (I) gca (A) taa (TER) wild type sequence in deletion region: gaa (E) gag (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 8 1156 E 1163 * 8 stomach APC 1 c.3772_3772delA p.T1258fs*7 length of cdnaseq = 8532 length of protseq = 2843 3772 3772 A 1 1258 1 1258 1 a Total no. of codons in cdna seq = 2844 aca aca prev a start a-a end a-c --- -ca frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1264 Protein length after deletion = 1263 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aac (N) caa (Q) gaa (E) aca (T) aca (T) ata (I) cag (Q) act (T) tat (Y) aac (N) caa (Q) gaa (E) caa (Q) tac (Y) aga (R) ctt (L) original frameshift length = 7 frameshift length = 7 frameshifted sequence: caa (Q) tac (Y) aga (R) ctt (L) att (I) gtg (V) tag (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 7 1258 T 1264 * 7 stomach APC 1 c.3921_3924delAAAA p.I1307fs*13 length of cdnaseq = 8532 length of protseq = 2843 3921 3924 AAAA 4 1307 3 1308 3 aaaa Total no. of codons in cdna seq = 2844 ata aaa start t-a post g end a-g at- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tga at posn 1319 Protein length after deletion = 1318 Total no. of codons in del cdnaseq = 2843 last codon in array is aa ata (I) gca (A) gaa (E) ata (I) aaa (K) gaa (E) aag (K) att (I) gga (G) ata (I) gca (A) gaa (E) atg (M) aaa (K) aga (R) ttg (L) original frameshift length = 13 frameshift length = 13 frameshifted sequence: atg (M) aaa (K) aga (R) ttg (L) gaa (E) cta (L) ggt (G) cag (Q) ctg (L) aag (K) atc (I) ctg (L) tga (TER) wild type sequence in deletion region: ata (I) aaa (K) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 13 1307 I 1319 * 13 stomach APC 1 c.4084_4084delT p.S1362fs*53 length of cdnaseq = 8532 length of protseq = 2843 4084 4084 T 1 1362 1 1362 1 t Total no. of codons in cdna seq = 2844 tcc tcc prev c start c-t end t-c --- -cc frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aaa (K) tct (S) ccc (P) tcc (S) tcc (S) aaa (K) agt (S) ggt (G) gct (A) aaa (K) tct (S) ccc (P) cca (P) aaa (K) gtg (V) gtg (V) original frameshift length = 53 frameshift length = 53 frameshifted sequence: cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 53 1362 S 1414 * 53 stomach APC 1 c.4193_4194delGT p.S1398fs*10 length of cdnaseq = 8532 length of protseq = 2843 4193 4194 GT 2 1398 2 1398 3 gt Total no. of codons in cdna seq = 2844 agt agt start a-g post c end t-c a-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1407 Protein length after deletion = 1406 Total no. of codons in del cdnaseq = 2844 last codon in array is a agt (S) ttt (F) gag (E) agt (S) agt (S) cgt (R) tcg (S) att (I) gcc (A) agt (S) ttt (F) gag (E) acg (T) ttc (F) gat (D) tgc (C) original frameshift length = 10 frameshift length = 10 frameshifted sequence: acg (T) ttc (F) gat (D) tgc (C) cag (Q) ctc (L) cgt (R) tca (S) gag (E) tga (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 10 1398 S 1407 * 10 stomach APC 1 c.4221_4221delT p.S1407fs*8 length of cdnaseq = 8532 length of protseq = 2843 4221 4221 T 1 1407 3 1407 3 t Total no. of codons in cdna seq = 2844 agt agt start g-t post g end t-g ag- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tcc (S) gtt (V) cag (Q) agt (S) agt (S) gaa (E) cca (P) tgc (C) agt (S) tcc (S) gtt (V) cag (Q) agg (R) aac (N) cat (H) gca (A) original frameshift length = 8 frameshift length = 8 frameshifted sequence: agg (R) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 8 1407 S 1414 * 8 stomach APC 1 c.4390_4393delGAGA p.E1464fs*8 length of cdnaseq = 8532 length of protseq = 2843 4390 4393 GAGA 4 1464 1 1465 1 gaga Total no. of codons in cdna seq = 2844 gag agt prev a start a-g end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) aag (K) caa (Q) gaa (E) aag (K) aga (R) gtg (V) gac (D) cta (L) agc (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: gag (E) agt (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 8 1464 E 1471 * 8 thyroid APC 1 c.1602_1602delA p.K534fs*15 length of cdnaseq = 8532 length of protseq = 2843 1602 1602 A 1 534 3 534 3 a Total no. of codons in cdna seq = 2844 aaa aaa start a-a post t end a-t aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 548 Protein length after deletion = 547 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gcc (A) caa (Q) cta (L) aaa (K) aaa (K) tct (S) gaa (E) agt (S) gaa (E) gcc (A) caa (Q) cta (L) aat (N) ctg (L) aaa (K) gtg (V) original frameshift length = 15 frameshift length = 15 frameshifted sequence: aat (N) ctg (L) aaa (K) gtg (V) aag (K) act (T) tac (Y) agc (S) agg (R) tta (L) ttg (L) caa (Q) gtg (V) ttt (F) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 15 534 K 548 * 15 thyroid APC 1 c.1821_1821delT p.C607fs*3 length of cdnaseq = 8532 length of protseq = 2843 1821 1821 T 1 607 3 607 3 t Total no. of codons in cdna seq = 2844 tgt tgt start g-t post g end t-g tg- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 609 Protein length after deletion = 608 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) gat (D) ata (I) tgt (C) tgt (C) gct (A) gta (V) gat (D) ggt (G) gct (A) gat (D) ata (I) tgg (W) ctg (L) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tgg (W) ctg (L) tag (TER) wild type sequence in deletion region: tgt (C) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 3 607 C 609 * 3 thyroid APC 1 c.1920_1920delG p.N641fs*5 length of cdnaseq = 8532 length of protseq = 2843 1920 1920 G 1 640 3 640 3 g Total no. of codons in cdna seq = 2844 cgg cgg start g-g post a end g-a cg- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 645 Protein length after deletion = 644 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ggg (G) ata (I) tta (L) cgg (R) cgg (R) aat (N) gtg (V) tcc (S) agc (S) ggg (G) ata (I) tta (L) cga (R) atg (M) tgt (C) cca (P) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cga (R) atg (M) tgt (C) cca (P) gct (A) tga (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgg (R) cga (R) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 5 641 N 645 * 5 thyroid APC 1 c.2706_2725del20 p.E902fs*3 length of cdnaseq = 8532 length of protseq = 2843 2706 2725 20 20 902 3 909 1 agacagaagttctgggtcta Total no. of codons in cdna seq = 2844 gaa acc start a-a end a-c ga- -cc frameshift deletion length of cdnaseq after deletion = 8512 ter codon is tga at posn 904 Protein length after deletion = 903 Total no. of codons in del cdnaseq = 2838 last codon in array is a acc (T) tct (S) cag (Q) gaa (E) acc (T) act (T) gaa (E) tta (L) cat (H) acc (T) tct (S) cag (Q) gac (D) cac (H) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gac (D) cac (H) tga (TER) wild type sequence in deletion region: gaa (E) gac (D) aga (R) agt (S) tct (S) ggg (G) tct (S) acc (T) wt frameshift deln region length = 8 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 3 902 E 904 * 3 thyroid APC 1 c.922_922delC p.L308fs*28 length of cdnaseq = 8532 length of protseq = 2843 922 922 C 1 308 1 308 1 c Total no. of codons in cdna seq = 2844 ctg ctg prev t start t-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 335 Protein length after deletion = 334 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aca (T) agt (S) cat (H) ctg (L) ctg (L) gga (G) acc (T) aag (K) gtg (V) aca (T) agt (S) cat (H) tgg (W) gaa (E) cca (P) agg (R) original frameshift length = 28 frameshift length = 28 frameshifted sequence: tgg (W) gaa (E) cca (P) agg (R) tgg (W) aaa (K) tgg (W) tgt (C) att (I) cat (H) tgt (C) tgt (C) caa (Q) tgc (C) ttg (L) gta (V) ctc (L) atg (M) ata (I) agg (R) atg (M) ata (I) tgt (C) cgc (R) gaa (E) ctt (L) tgc (C) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 28 308 L 335 * 28 urinary_tract APC 1 c.3900_3900delT p.N1300fs*5 length of cdnaseq = 8532 length of protseq = 2843 3900 3900 T 1 1300 3 1300 3 t Total no. of codons in cdna seq = 2844 aat aat start a-t post a end t-a aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gat (D) tct (S) gct (A) aat (N) aat (N) acc (T) ctg (L) caa (Q) ata (I) gat (D) tct (S) gct (A) aaa (K) ccc (P) tgc (C) aaa (K) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aaa (K) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 5 1300 N 1304 * 5 urinary_tract APC 1 c.3901_3901delA p.T1301fs*4 length of cdnaseq = 8532 length of protseq = 2843 3901 3901 A 1 1301 1 1301 1 a Total no. of codons in cdna seq = 2844 acc acc prev t start t-a end a-c --- -cc frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tct (S) gct (A) aat (N) acc (T) acc (T) ctg (L) caa (Q) ata (I) gca (A) tct (S) gct (A) aat (N) ccc (P) tgc (C) aaa (K) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 4 1301 T 1304 * 4 large_intestine APC 22 c.4393_4394delAG p.S1465fs*3 length of cdnaseq = 8532 length of protseq = 2843 4393 4394 AG 2 1465 1 1465 2 ag Total no. of codons in cdna seq = 2844 agt agt prev g start g-a end g-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a aag (K) aga (R) gag (E) agt (S) agt (S) gga (G) cct (P) aag (K) caa (Q) aag (K) aga (R) gag (E) tgg (W) acc (T) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tgg (W) acc (T) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 1465 S 1467 * 3 large_intestine APC 28 c.3921_3925delAAAAG p.E1309fs*4 length of cdnaseq = 8532 length of protseq = 2843 3921 3925 AAAAG 5 1307 3 1309 1 aaaag Total no. of codons in cdna seq = 2844 ata gaa start t-a end g-a at- -aa frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a ata (I) gca (A) gaa (E) ata (I) gaa (E) aag (K) att (I) gga (G) act (T) ata (I) gca (A) gaa (E) ata (I) aaa (K) gat (D) tgg (W) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ata (I) aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: ata (I) aaa (K) gaa (E) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ata (I) ata (I) matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 4 1309 E 1312 * 4 large_intestine APC 2 c.1993_1994delTT p.L665fs*8 length of cdnaseq = 8532 length of protseq = 2843 1993 1994 TT 2 665 1 665 2 tt Total no. of codons in cdna seq = 2844 tta tta prev t start t-t end t-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 672 Protein length after deletion = 671 Total no. of codons in del cdnaseq = 2844 last codon in array is a cta (L) caa (Q) act (T) tta (L) tta (L) tta (L) caa (Q) cac (H) tta (L) cta (L) caa (Q) act (T) att (I) aca (T) aca (T) ctt (L) original frameshift length = 8 frameshift length = 8 frameshifted sequence: att (I) aca (T) aca (T) ctt (L) aaa (K) atc (I) tca (S) tag (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 8 665 L 672 * 8 large_intestine APC 2 c.2016_2017delTA p.H672fs*7 length of cdnaseq = 8532 length of protseq = 2843 2016 2017 TA 2 672 3 673 1 ta Total no. of codons in cdna seq = 2844 cat agt start a-t end a-g ca- -gt frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 678 Protein length after deletion = 677 Total no. of codons in del cdnaseq = 2844 last codon in array is a tta (L) aaa (K) tct (S) cat (H) agt (S) ttg (L) aca (T) ata (I) gtc (V) tta (L) aaa (K) tct (S) cag (Q) ttt (F) gac (D) aat (N) original frameshift length = 7 frameshift length = 7 frameshifted sequence: cag (Q) ttt (F) gac (D) aat (N) agt (S) cag (Q) taa (TER) wild type sequence in deletion region: cat (H) agt (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 7 672 H 678 * 7 large_intestine APC 2 c.2606_2606delA p.N869fs*47 length of cdnaseq = 8532 length of protseq = 2843 2606 2606 A 1 869 2 869 2 a Total no. of codons in cdna seq = 2844 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 915 Protein length after deletion = 914 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gca (A) aca (T) gaa (E) aat (N) aat (N) cca (P) gga (G) act (T) tct (S) gca (A) aca (T) gaa (E) atc (I) cag (Q) gaa (E) ctt (L) original frameshift length = 47 frameshift length = 47 frameshifted sequence: atc (I) cag (Q) gaa (E) ctt (L) ctt (L) caa (Q) agc (S) gag (E) gtt (V) tgc (C) aga (R) tct (S) cca (P) cca (P) ctg (L) cag (Q) ccc (P) aga (R) ttg (L) cca (P) aag (K) tca (S) tgg (W) aag (K) aag (K) tgt (C) cag (Q) cca (P) ttc (F) ata (I) cct (P) ctc (L) agg (R) aag (K) aca (T) gaa (E) gtt (V) ctg (L) ggt (G) cta (L) cca (P) ctg (L) aat (N) tac (Y) att (I) gtg (V) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 47 869 N 915 * 47 large_intestine APC 2 c.2717_2717delC p.S906fs*10 length of cdnaseq = 8532 length of protseq = 2843 2717 2717 C 1 906 2 906 2 c Total no. of codons in cdna seq = 2844 tct tct start t-c end c-t t-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 915 Protein length after deletion = 914 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gac (D) aga (R) agt (S) tct (S) tct (S) ggg (G) tct (S) acc (T) act (T) gac (D) aga (R) agt (S) ttg (L) ggt (G) cta (L) cca (P) original frameshift length = 10 frameshift length = 10 frameshifted sequence: ttg (L) ggt (G) cta (L) cca (P) ctg (L) aat (N) tac (Y) att (I) gtg (V) tga (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 10 906 S 915 * 10 large_intestine APC 2 c.3898_3908del11 p.T1301fs*10 length of cdnaseq = 8532 length of protseq = 2843 3898 3908 11 11 1300 1 1303 2 aataccctgca Total no. of codons in cdna seq = 2844 aat caa prev t start t-a end a-a --- --a frameshift deletion length of cdnaseq after deletion = 8521 ter codon is tag at posn 1310 Protein length after deletion = 1309 Total no. of codons in del cdnaseq = 2841 last codon in array is a gat (D) tct (S) gct (A) aat (N) caa (Q) ata (I) gca (A) gaa (E) ata (I) gat (D) tct (S) gct (A) aat (N) agc (S) aga (R) aat (N) original frameshift length = 11 frameshift length = 11 frameshifted sequence: aat (N) agc (S) aga (R) aat (N) aaa (K) aga (R) aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: aat (N) acc (T) ctg (L) caa (Q) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: aat (N) aat (N) first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 10 1301 T 1310 * 10 large_intestine APC 2 c.3919_3919delA p.I1307fs*1 length of cdnaseq = 8532 length of protseq = 2843 3919 3919 A 1 1307 1 1307 1 a Total no. of codons in cdna seq = 2844 ata ata prev a start a-a end a-t --- -ta frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1307 Protein length after deletion = 1306 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ata (I) gca (A) gaa (E) ata (I) ata (I) aaa (K) gaa (E) aag (K) att (I) ata (I) gca (A) gaa (E) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 1 1307 I 1307 * 1 large_intestine APC 2 c.3920_3921delTA p.I1307fs*7 length of cdnaseq = 8532 length of protseq = 2843 3920 3921 TA 2 1307 2 1307 3 ta Total no. of codons in cdna seq = 2844 ata ata start a-t post a end a-a a-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1313 Protein length after deletion = 1312 Total no. of codons in del cdnaseq = 2844 last codon in array is a ata (I) gca (A) gaa (E) ata (I) ata (I) aaa (K) gaa (E) aag (K) att (I) ata (I) gca (A) gaa (E) aaa (K) aga (R) aaa (K) gat (D) original frameshift length = 7 frameshift length = 7 frameshifted sequence: aaa (K) aga (R) aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 7 1307 I 1313 * 7 large_intestine APC 2 c.3930_3933delGATT p.I1311fs*9 length of cdnaseq = 8532 length of protseq = 2843 3930 3933 GATT 4 1310 3 1311 3 gatt Total no. of codons in cdna seq = 2844 aag att start a-g post g end t-g aa- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is tga at posn 1319 Protein length after deletion = 1318 Total no. of codons in del cdnaseq = 2843 last codon in array is aa ata (I) aaa (K) gaa (E) aag (K) att (I) gga (G) act (T) agg (R) tca (S) ata (I) aaa (K) gaa (E) aag (K) gaa (E) cta (L) ggt (G) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aag (K) gaa (E) cta (L) ggt (G) cag (Q) ctg (L) aag (K) atc (I) ctg (L) tga (TER) wild type sequence in deletion region: aag (K) att (I) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aag (K) aag (K) first wt aa affected by frameshift deletion is : att (I) final frameshift length = 9 1311 I 1319 * 9 large_intestine APC 2 c.3935_3935delG p.G1312fs*9 length of cdnaseq = 8532 length of protseq = 2843 3935 3935 G 1 1312 2 1312 2 g Total no. of codons in cdna seq = 2844 gga gga start g-g end g-a g-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1320 Protein length after deletion = 1319 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gaa (E) aag (K) att (I) gga (G) gga (G) act (T) agg (R) tca (S) gct (A) gaa (E) aag (K) att (I) gaa (E) cta (L) ggt (G) cag (Q) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gaa (E) cta (L) ggt (G) cag (Q) ctg (L) aag (K) atc (I) ctg (L) tga (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 9 1312 G 1320 * 9 large_intestine APC 2 c.3942_3942delG p.R1314fs*7 length of cdnaseq = 8532 length of protseq = 2843 3942 3942 G 1 1314 3 1314 3 g Total no. of codons in cdna seq = 2844 agg agg start g-g post t end g-t ag- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1320 Protein length after deletion = 1319 Total no. of codons in del cdnaseq = 2844 last codon in array is aa att (I) gga (G) act (T) agg (R) agg (R) tca (S) gct (A) gaa (E) gat (D) att (I) gga (G) act (T) agt (S) cag (Q) ctg (L) aag (K) original frameshift length = 7 frameshift length = 7 frameshifted sequence: agt (S) cag (Q) ctg (L) aag (K) atc (I) ctg (L) tga (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 7 1314 R 1320 * 7 large_intestine APC 2 c.3956delC p.P1319fs*2 length of cdnaseq = 8532 length of protseq = 2843 3956 3956 C 1 1319 2 1319 2 c Total no. of codons in cdna seq = 2844 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1320 Protein length after deletion = 1319 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) gaa (E) gat (D) cct (P) cct (P) gtg (V) agc (S) gaa (E) gtt (V) gct (A) gaa (E) gat (D) ctg (L) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctg (L) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 2 1319 P 1320 * 2 large_intestine APC 2 c.3982_3983delCA p.Q1328fs*3 length of cdnaseq = 8532 length of protseq = 2843 3982 3983 CA 2 1328 1 1328 2 ca Total no. of codons in cdna seq = 2844 cag cag prev a start a-c end a-g --- --g frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1330 Protein length after deletion = 1329 Total no. of codons in del cdnaseq = 2844 last codon in array is a gca (A) gtg (V) tca (S) cag (Q) cag (Q) cac (H) cct (P) aga (R) acc (T) gca (A) gtg (V) tca (S) gca (A) ccc (P) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gca (A) ccc (P) tag (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 3 1328 Q 1330 * 3 large_intestine APC 2 c.4040_4040delC p.R1348fs*67 length of cdnaseq = 8532 length of protseq = 2843 4040 4040 C 1 1347 2 1347 2 c Total no. of codons in cdna seq = 2844 gcc gcc start g-c end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tca (S) gaa (E) tca (S) gcc (A) gcc (A) agg (R) cac (H) aaa (K) gct (A) tca (S) gaa (E) tca (S) gca (A) ggc (G) aca (T) aag (K) original frameshift length = 68 frameshift length = 68 frameshifted sequence: gca (A) ggc (G) aca (T) aag (K) ctg (L) ttg (L) aat (N) ttt (F) ctt (L) cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 67 1348 R 1414 * 67 large_intestine APC 2 c.4061_4062delTT p.S1355fs*19 length of cdnaseq = 8532 length of protseq = 2843 4061 4062 TT 2 1354 2 1354 3 tt Total no. of codons in cdna seq = 2844 ttt ttt start t-t post t end t-t t-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1373 Protein length after deletion = 1372 Total no. of codons in del cdnaseq = 2844 last codon in array is a gct (A) gtt (V) gaa (E) ttt (F) ttt (F) tct (S) tca (S) gga (G) gcg (A) gct (A) gtt (V) gaa (E) ttc (F) ttc (F) agg (R) agc (S) original frameshift length = 20 frameshift length = 20 frameshifted sequence: ttc (F) ttc (F) agg (R) agc (S) gaa (E) atc (I) tcc (S) ctc (L) caa (Q) aag (K) tgg (W) tgc (C) tca (S) gac (D) acc (T) caa (Q) aag (K) tcc (S) acc (T) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttt (F) ttc (F) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 19 1355 S 1373 * 19 large_intestine APC 2 c.4065_4066delTT p.S1356fs*18 length of cdnaseq = 8532 length of protseq = 2843 4065 4066 TT 2 1355 3 1356 1 tt Total no. of codons in cdna seq = 2844 tct tca start c-t end t-c tc- -ca frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1373 Protein length after deletion = 1372 Total no. of codons in del cdnaseq = 2844 last codon in array is a gtt (V) gaa (E) ttt (F) tct (S) tca (S) gga (G) gcg (A) aaa (K) tct (S) gtt (V) gaa (E) ttt (F) tcc (S) agg (R) agc (S) gaa (E) original frameshift length = 19 frameshift length = 19 frameshifted sequence: tcc (S) agg (R) agc (S) gaa (E) atc (I) tcc (S) ctc (L) caa (Q) aag (K) tgg (W) tgc (C) tca (S) gac (D) acc (T) caa (Q) aag (K) tcc (S) acc (T) tga (TER) wild type sequence in deletion region: tct (S) tca (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tct (S) tcc (S) first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 18 1356 S 1373 * 18 large_intestine APC 2 c.4066_4079del14 p.G1357fs*13 length of cdnaseq = 8532 length of protseq = 2843 4066 4079 14 14 1356 1 1360 2 tcaggagcgaaatc Total no. of codons in cdna seq = 2844 tca tct prev t start t-t end c-t --- --t frameshift deletion length of cdnaseq after deletion = 8518 ter codon is tga at posn 1369 Protein length after deletion = 1368 Total no. of codons in del cdnaseq = 2840 last codon in array is a gaa (E) ttt (F) tct (S) tca (S) tct (S) ccc (P) tcc (S) aaa (K) agt (S) gaa (E) ttt (F) tct (S) tcc (S) ctc (L) caa (Q) aag (K) original frameshift length = 14 frameshift length = 14 frameshifted sequence: tcc (S) ctc (L) caa (Q) aag (K) tgg (W) tgc (C) tca (S) gac (D) acc (T) caa (Q) aag (K) tcc (S) acc (T) tga (TER) wild type sequence in deletion region: tca (S) gga (G) gcg (A) aaa (K) tct (S) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: tca (S) tcc (S) first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 13 1357 G 1369 * 13 large_intestine APC 2 c.4122_4123delAC p.H1375fs*10 length of cdnaseq = 8532 length of protseq = 2843 4122 4123 AC 2 1374 3 1375 1 ac Total no. of codons in cdna seq = 2844 gaa cac start a-a end c-a ga- -ac frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1384 Protein length after deletion = 1383 Total no. of codons in del cdnaseq = 2844 last codon in array is a agt (S) cca (P) cct (P) gaa (E) cac (H) tat (Y) gtt (V) cag (Q) gag (E) agt (S) cca (P) cct (P) gaa (E) cta (L) tgt (C) tca (S) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gaa (E) cta (L) tgt (C) tca (S) gga (G) gac (D) ccc (P) act (T) cat (H) gtt (V) tag (TER) wild type sequence in deletion region: gaa (E) cac (H) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 10 1375 H 1384 * 10 large_intestine APC 2 c.4126_4127delTA p.Y1376fs*9 length of cdnaseq = 8532 length of protseq = 2843 4126 4127 TA 2 1376 1 1376 2 ta Total no. of codons in cdna seq = 2844 tat tat prev c start c-t end a-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1384 Protein length after deletion = 1383 Total no. of codons in del cdnaseq = 2844 last codon in array is a cct (P) gaa (E) cac (H) tat (Y) tat (Y) gtt (V) cag (Q) gag (E) acc (T) cct (P) gaa (E) cac (H) tgt (C) tca (S) gga (G) gac (D) original frameshift length = 9 frameshift length = 9 frameshifted sequence: tgt (C) tca (S) gga (G) gac (D) ccc (P) act (T) cat (H) gtt (V) tag (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 9 1376 Y 1384 * 9 large_intestine APC 2 c.4132_4133delCA p.Q1378fs*7 length of cdnaseq = 8532 length of protseq = 2843 4132 4133 CA 2 1378 1 1378 2 ca Total no. of codons in cdna seq = 2844 cag cag prev t start t-c end a-g --- --g frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1384 Protein length after deletion = 1383 Total no. of codons in del cdnaseq = 2844 last codon in array is a cac (H) tat (Y) gtt (V) cag (Q) cag (Q) gag (E) acc (T) cca (P) ctc (L) cac (H) tat (Y) gtt (V) gga (G) gac (D) ccc (P) act (T) original frameshift length = 7 frameshift length = 7 frameshifted sequence: gga (G) gac (D) ccc (P) act (T) cat (H) gtt (V) tag (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 7 1378 Q 1384 * 7 large_intestine APC 2 c.4147_4148delAT p.M1383fs*2 length of cdnaseq = 8532 length of protseq = 2843 4147 4148 AT 2 1383 1 1383 2 at Total no. of codons in cdna seq = 2844 atg atg prev c start c-a end t-g --- --g frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1384 Protein length after deletion = 1383 Total no. of codons in del cdnaseq = 2844 last codon in array is a acc (T) cca (P) ctc (L) atg (M) atg (M) ttt (F) agc (S) aga (R) tgt (C) acc (T) cca (P) ctc (L) gtt (V) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gtt (V) tag (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 2 1383 M 1384 * 2 large_intestine APC 2 c.4150_4150delT p.F1384fs*31 length of cdnaseq = 8532 length of protseq = 2843 4150 4150 T 1 1384 1 1384 1 t Total no. of codons in cdna seq = 2844 ttt ttt prev g start g-t end t-t --- -tt frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) ctc (L) atg (M) ttt (F) ttt (F) agc (S) aga (R) tgt (C) act (T) cca (P) ctc (L) atg (M) tta (L) gca (A) gat (D) gta (V) original frameshift length = 31 frameshift length = 31 frameshifted sequence: tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 31 1384 F 1414 * 31 large_intestine APC 2 c.4165_4166delTC p.S1389fs*5 length of cdnaseq = 8532 length of protseq = 2843 4165 4166 TC 2 1389 1 1389 2 tc Total no. of codons in cdna seq = 2844 tct tct prev t start t-t end c-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1393 Protein length after deletion = 1392 Total no. of codons in del cdnaseq = 2844 last codon in array is a aga (R) tgt (C) act (T) tct (S) tct (S) gtc (V) agt (S) tca (S) ctt (L) aga (R) tgt (C) act (T) tgt (C) cag (Q) ttc (F) act (T) original frameshift length = 5 frameshift length = 5 frameshifted sequence: tgt (C) cag (Q) ttc (F) act (T) tga (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 5 1389 S 1393 * 5 large_intestine APC 2 c.4182_4185delTAGT p.S1395fs*19 length of cdnaseq = 8532 length of protseq = 2843 4182 4185 TAGT 4 1394 3 1395 3 tagt Total no. of codons in cdna seq = 2844 gat agt start a-t post t end t-t ga- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1413 Protein length after deletion = 1412 Total no. of codons in del cdnaseq = 2843 last codon in array is aa agt (S) tca (S) ctt (L) gat (D) agt (S) ttt (F) gag (E) agt (S) cgt (R) agt (S) tca (S) ctt (L) gat (D) ttg (L) aga (R) gtc (V) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gat (D) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: gat (D) agt (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gat (D) gat (D) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 19 1395 S 1413 * 19 large_intestine APC 2 c.4194_4194delT p.R1399fs*16 length of cdnaseq = 8532 length of protseq = 2843 4194 4194 T 1 1398 3 1398 3 t Total no. of codons in cdna seq = 2844 agt agt start g-t post c end t-c ag- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agt (S) ttt (F) gag (E) agt (S) agt (S) cgt (R) tcg (S) att (I) gcc (A) agt (S) ttt (F) gag (E) agc (S) gtt (V) cga (R) ttg (L) original frameshift length = 17 frameshift length = 17 frameshifted sequence: agc (S) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agt (S) agc (S) first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 16 1399 R 1414 * 16 large_intestine APC 2 c.4196_4196delG p.R1399fs*16 length of cdnaseq = 8532 length of protseq = 2843 4196 4196 G 1 1399 2 1399 2 g Total no. of codons in cdna seq = 2844 cgt cgt start c-g end g-t c-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ttt (F) gag (E) agt (S) cgt (R) cgt (R) tcg (S) att (I) gcc (A) agc (S) ttt (F) gag (E) agt (S) ctt (L) cga (R) ttg (L) cca (P) original frameshift length = 16 frameshift length = 16 frameshifted sequence: ctt (L) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: cgt (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 16 1399 R 1414 * 16 large_intestine APC 2 c.421_422delAG p.R141fs*6 length of cdnaseq = 8532 length of protseq = 2843 421 422 AG 2 141 1 141 2 ag Total no. of codons in cdna seq = 2844 agg agg prev g start g-a end g-g --- --g frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 146 Protein length after deletion = 145 Total no. of codons in del cdnaseq = 2844 last codon in array is a gag (E) aaa (K) gag (E) agg (R) agg (R) tca (S) ttg (L) ctt (L) ctt (L) gag (E) aaa (K) gag (E) gtc (V) att (I) gct (A) tct (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: gtc (V) att (I) gct (A) tct (S) tgc (C) tga (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 6 141 R 146 * 6 large_intestine APC 2 c.4219_4220delAG p.S1407fs*1 length of cdnaseq = 8532 length of protseq = 2843 4219 4220 AG 2 1407 1 1407 2 ag Total no. of codons in cdna seq = 2844 agt agt prev g start g-a end g-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1407 Protein length after deletion = 1406 Total no. of codons in del cdnaseq = 2844 last codon in array is a tcc (S) gtt (V) cag (Q) agt (S) agt (S) gaa (E) cca (P) tgc (C) agt (S) tcc (S) gtt (V) cag (Q) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 1 1407 S 1407 * 1 large_intestine APC 2 c.4225_4226delCC p.P1409fs*13 length of cdnaseq = 8532 length of protseq = 2843 4225 4226 CC 2 1409 1 1409 2 cc Total no. of codons in cdna seq = 2844 cca cca prev a start a-c end c-a --- --a frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1421 Protein length after deletion = 1420 Total no. of codons in del cdnaseq = 2844 last codon in array is a cag (Q) agt (S) gaa (E) cca (P) cca (P) tgc (C) agt (S) gga (G) atg (M) cag (Q) agt (S) gaa (E) atg (M) cag (Q) tgg (W) aat (N) original frameshift length = 13 frameshift length = 13 frameshifted sequence: atg (M) cag (Q) tgg (W) aat (N) ggt (G) aag (K) tgg (W) cat (H) tat (Y) aag (K) ccc (P) cag (Q) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 13 1409 P 1421 * 13 large_intestine APC 2 c.4244_4244delG p.S1415fs*4 length of cdnaseq = 8532 length of protseq = 2843 4244 4244 G 1 1415 2 1415 2 g Total no. of codons in cdna seq = 2844 agt agt start a-g end g-t a-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1418 Protein length after deletion = 1417 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gga (G) atg (M) gta (V) agt (S) agt (S) ggc (G) att (I) ata (I) agc (S) gga (G) atg (M) gta (V) atg (M) gca (A) tta (L) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: atg (M) gca (A) tta (L) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 4 1415 S 1418 * 4 large_intestine APC 2 c.4245_4245delT p.S1415fs*4 length of cdnaseq = 8532 length of protseq = 2843 4245 4245 T 1 1415 3 1415 3 t Total no. of codons in cdna seq = 2844 agt agt start g-t post g end t-g ag- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1418 Protein length after deletion = 1417 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gga (G) atg (M) gta (V) agt (S) agt (S) ggc (G) att (I) ata (I) agc (S) gga (G) atg (M) gta (V) agg (R) gca (A) tta (L) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: agg (R) gca (A) tta (L) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 4 1415 S 1418 * 4 large_intestine APC 2 c.4271_4271delC p.P1424fs*49 length of cdnaseq = 8532 length of protseq = 2843 4271 4271 C 1 1424 2 1424 2 c Total no. of codons in cdna seq = 2844 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agt (S) gat (D) ctt (L) cca (P) cca (P) gat (D) agc (S) cct (P) gga (G) agt (S) gat (D) ctt (L) cag (Q) ata (I) gcc (A) ctg (L) original frameshift length = 49 frameshift length = 49 frameshifted sequence: cag (Q) ata (I) gcc (A) ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 49 1424 P 1472 * 49 large_intestine APC 2 c.4277_4277delG p.S1426fs*47 length of cdnaseq = 8532 length of protseq = 2843 4277 4277 G 1 1426 2 1426 2 g Total no. of codons in cdna seq = 2844 agc agc start a-g end g-c a-- --c frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ctt (L) cca (P) gat (D) agc (S) agc (S) cct (P) gga (G) caa (Q) acc (T) ctt (L) cca (P) gat (D) acc (T) ctg (L) gac (D) aaa (K) original frameshift length = 47 frameshift length = 47 frameshifted sequence: acc (T) ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 47 1426 S 1472 * 47 large_intestine APC 2 c.4304_4304delG p.R1435fs*38 length of cdnaseq = 8532 length of protseq = 2843 4304 4304 G 1 1435 2 1435 2 g Total no. of codons in cdna seq = 2844 aga aga start a-g end g-a a-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) cca (P) agc (S) aga (R) aga (R) agt (S) aaa (K) aca (T) cct (P) cca (P) cca (P) agc (S) aaa (K) gta (V) aaa (K) cac (H) original frameshift length = 38 frameshift length = 38 frameshifted sequence: aaa (K) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 38 1435 R 1472 * 38 large_intestine APC 2 c.4372_4372delC p.P1458fs*15 length of cdnaseq = 8532 length of protseq = 2843 4372 4372 C 1 1458 1 1458 1 c Total no. of codons in cdna seq = 2844 cct cct prev a start a-c end c-c --- -ct frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aat (N) aaa (K) gca (A) cct (P) cct (P) act (T) gct (A) gaa (E) aag (K) aat (N) aaa (K) gca (A) cta (L) ctg (L) ctg (L) aaa (K) original frameshift length = 15 frameshift length = 15 frameshifted sequence: cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 15 1458 P 1472 * 15 large_intestine APC 2 c.4384_4385delAA p.K1462fs*6 length of cdnaseq = 8532 length of protseq = 2843 4384 4385 AA 2 1462 1 1462 2 aa Total no. of codons in cdna seq = 2844 aag aag prev a start a-a end a-g --- --g frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a act (T) gct (A) gaa (E) aag (K) aag (K) aga (R) gag (E) agt (S) gga (G) act (T) gct (A) gaa (E) gag (E) aga (R) gag (E) tgg (W) original frameshift length = 6 frameshift length = 6 frameshifted sequence: gag (E) aga (R) gag (E) tgg (W) acc (T) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 6 1462 K 1467 * 6 large_intestine APC 2 c.4386_4389delGAGA p.E1464fs*8 length of cdnaseq = 8532 length of protseq = 2843 4386 4389 GAGA 4 1462 3 1463 3 gaga Total no. of codons in cdna seq = 2844 aag aga start a-g post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa act (T) gct (A) gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) act (T) gct (A) gaa (E) aag (K) aga (R) gtg (V) gac (D) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aag (K) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aag (K) aga (R) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aag (K) aag (K) matching aa in delstart region of wt and deletion mutant: aga (R) aga (R) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 8 1464 E 1471 * 8 large_intestine APC 2 c.4393_4393delA p.S1465fs*8 length of cdnaseq = 8532 length of protseq = 2843 4393 4393 A 1 1465 1 1465 1 a Total no. of codons in cdna seq = 2844 agt agt prev g start g-a end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aag (K) aga (R) gag (E) agt (S) agt (S) gga (G) cct (P) aag (K) caa (Q) aag (K) aga (R) gag (E) gtg (V) gac (D) cta (L) agc (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 8 1465 S 1472 * 8 large_intestine APC 2 c.4394_4394delG p.S1465fs*8 length of cdnaseq = 8532 length of protseq = 2843 4394 4394 G 1 1465 2 1465 2 g Total no. of codons in cdna seq = 2844 agt agt start a-g end g-t a-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aag (K) aga (R) gag (E) agt (S) agt (S) gga (G) cct (P) aag (K) caa (Q) aag (K) aga (R) gag (E) atg (M) gac (D) cta (L) agc (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: atg (M) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 8 1465 S 1472 * 8 large_intestine APC 2 c.4446_4455del10 p.P1483fs*21 length of cdnaseq = 8532 length of protseq = 2843 4446 4455 10 10 1482 3 1485 3 tccagatgct Total no. of codons in cdna seq = 2844 ctt gct start t-t post g end t-g ct- --- frameshift deletion length of cdnaseq after deletion = 8522 ter codon is tga at posn 1503 Protein length after deletion = 1502 Total no. of codons in del cdnaseq = 2841 last codon in array is aa gtc (V) cag (Q) gtt (V) ctt (L) gct (A) gat (D) act (T) tta (L) tta (L) gtc (V) cag (Q) gtt (V) ctg (L) ata (I) ctt (L) tat (Y) original frameshift length = 22 frameshift length = 22 frameshifted sequence: ctg (L) ata (I) ctt (L) tat (Y) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: ctt (L) cca (P) gat (D) gct (A) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: ctt (L) ctg (L) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 21 1483 P 1503 * 21 large_intestine APC 2 c.4466_4466delT p.L1489fs*18 length of cdnaseq = 8532 length of protseq = 2843 4466 4466 T 1 1489 2 1489 2 t Total no. of codons in cdna seq = 2844 tta tta start t-t end t-a t-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gat (D) act (T) tta (L) tta (L) tta (L) cat (H) ttt (F) gcc (A) acg (T) gat (D) act (T) tta (L) tac (Y) att (I) ttg (L) cca (P) original frameshift length = 18 frameshift length = 18 frameshifted sequence: tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 18 1489 L 1506 * 18 large_intestine APC 2 c.4474_4474delG p.A1492fs*15 length of cdnaseq = 8532 length of protseq = 2843 4474 4474 G 1 1492 1 1492 1 g Total no. of codons in cdna seq = 2844 gcc gcc prev t start t-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tta (L) cat (H) ttt (F) gcc (A) gcc (A) acg (T) gaa (E) agt (S) act (T) tta (L) cat (H) ttt (F) cca (P) cgg (R) aaa (K) gta (V) original frameshift length = 15 frameshift length = 15 frameshifted sequence: cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 15 1492 A 1506 * 15 large_intestine APC 2 c.4611_4612delAG p.E1538fs*5 length of cdnaseq = 8532 length of protseq = 2843 4611 4612 AG 2 1537 3 1538 1 ag Total no. of codons in cdna seq = 2844 aca gaa start c-a end g-a ac- -aa frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1542 Protein length after deletion = 1541 Total no. of codons in del cdnaseq = 2844 last codon in array is a ggg (G) aat (N) gaa (E) aca (T) gaa (E) tca (S) gag (E) cag (Q) cct (P) ggg (G) aat (N) gaa (E) aca (T) atc (I) aga (R) gca (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: aca (T) atc (I) aga (R) gca (A) gcc (A) taa (TER) wild type sequence in deletion region: aca (T) gaa (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aca (T) aca (T) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 5 1538 E 1542 * 5 large_intestine APC 2 c.6579_6579delA p.V2194fs*5 length of cdnaseq = 8532 length of protseq = 2843 6579 6579 A 1 2193 3 2193 3 a Total no. of codons in cdna seq = 2844 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 2198 Protein length after deletion = 2197 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gga (G) gga (G) aaa (K) aaa (K) aaa (K) gtt (V) tat (Y) aaa (K) agt (S) gga (G) gga (G) aaa (K) aag (K) ttt (F) ata (I) aaa (K) original frameshift length = 6 frameshift length = 6 frameshifted sequence: aag (K) ttt (F) ata (I) aaa (K) gtt (V) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 5 2194 V 2198 * 5 pancreas APC 2 c.4333_4333delA p.T1445fs*28 length of cdnaseq = 8532 length of protseq = 2843 4333 4333 A 1 1445 1 1445 1 a Total no. of codons in cdna seq = 2844 aca aca prev a start a-a end a-c --- -ca frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cct (P) cct (P) caa (Q) aca (T) aca (T) gct (A) caa (Q) acc (T) aag (K) cct (P) cct (P) caa (Q) cag (Q) ctc (L) aaa (K) cca (P) original frameshift length = 28 frameshift length = 28 frameshifted sequence: cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 28 1445 T 1472 * 28 small_intestine APC 2 c.4391_4394delAGAG p.E1464fs*8 length of cdnaseq = 8532 length of protseq = 2843 4391 4394 AGAG 4 1464 2 1465 2 agag Total no. of codons in cdna seq = 2844 gag agt start g-a end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) aag (K) caa (Q) gaa (E) aag (K) aga (R) gtg (V) gac (D) cta (L) agc (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: gag (E) agt (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 8 1464 E 1471 * 8 small_intestine APC 2 c.4393_4394delAG p.S1465fs*3 length of cdnaseq = 8532 length of protseq = 2843 4393 4394 AG 2 1465 1 1465 2 ag Total no. of codons in cdna seq = 2844 agt agt prev g start g-a end g-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a aag (K) aga (R) gag (E) agt (S) agt (S) gga (G) cct (P) aag (K) caa (Q) aag (K) aga (R) gag (E) tgg (W) acc (T) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tgg (W) acc (T) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 1465 S 1467 * 3 stomach APC 2 c.3572_3573delAG p.K1192fs*15 length of cdnaseq = 8532 length of protseq = 2843 3572 3573 AG 2 1191 2 1191 3 ag Total no. of codons in cdna seq = 2844 cag cag start c-a post a end g-a c-- --- frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 2844 last codon in array is a cct (P) tca (S) tca (S) cag (Q) cag (Q) aaa (K) cag (Q) tca (S) ttt (F) cct (P) tca (S) tca (S) caa (Q) aca (T) gtc (V) att (I) original frameshift length = 16 frameshift length = 16 frameshifted sequence: caa (Q) aca (T) gtc (V) att (I) ttc (F) att (I) ctc (L) aaa (K) gag (E) ttc (F) atc (I) tgg (W) aca (T) aag (K) cag (Q) taa (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cag (Q) caa (Q) first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 15 1192 K 1206 * 15 stomach APC 2 c.4468_4469delCA p.H1490fs*23 length of cdnaseq = 8532 length of protseq = 2843 4468 4469 CA 2 1490 1 1490 2 ca Total no. of codons in cdna seq = 2844 cat cat prev a start a-c end a-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1512 Protein length after deletion = 1511 Total no. of codons in del cdnaseq = 2844 last codon in array is a act (T) tta (L) tta (L) cat (H) cat (H) ttt (F) gcc (A) acg (T) gaa (E) act (T) tta (L) tta (L) ttt (F) tgc (C) cac (H) gga (G) original frameshift length = 23 frameshift length = 23 frameshifted sequence: ttt (F) tgc (C) cac (H) gga (G) aag (K) tac (Y) tcc (S) aga (R) tgg (W) att (I) ttc (F) ttg (L) ttc (F) atc (I) cag (Q) cct (P) gag (E) tgc (C) tct (S) gag (E) cct (P) cga (R) tga (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 23 1490 H 1512 * 23 stomach APC 2 c.4666delA p.T1556fs*9 length of cdnaseq = 8532 length of protseq = 2843 4666 4666 A 1 1556 1 1556 1 a Total no. of codons in cdna seq = 2844 act act prev a start a-a end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1564 Protein length after deletion = 1563 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gca (A) gaa (E) aaa (K) act (T) act (T) att (I) gat (D) tct (S) gaa (E) gca (A) gaa (E) aaa (K) cta (L) ttg (L) att (I) ctg (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: cta (L) ttg (L) att (I) ctg (L) aaa (K) agg (R) acc (T) tat (Y) tag (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 9 1556 T 1564 * 9 thyroid APC 2 c.3180_3184delAAAAC p.Q1062fs*1 length of cdnaseq = 8532 length of protseq = 2843 3180 3184 AAAAC 5 1060 3 1062 1 aaaac Total no. of codons in cdna seq = 2844 ata caa start t-a end c-a at- -aa frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tga at posn 1062 Protein length after deletion = 1061 Total no. of codons in del cdnaseq = 2843 last codon in array is a gaa (E) gat (D) gaa (E) ata (I) caa (Q) agt (S) gag (E) caa (Q) aga (R) gaa (E) gat (D) gaa (E) ata (I) aag (K) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: ata (I) aag (K) tga (TER) wild type sequence in deletion region: ata (I) aaa (K) caa (Q) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ata (I) ata (I) matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 1 1062 Q 1062 * 1 thyroid APC 2 c.3927_3931delAAAGA p.E1309fs*4 length of cdnaseq = 8532 length of protseq = 2843 3927 3931 AAAGA 5 1309 3 1311 1 aaaga Total no. of codons in cdna seq = 2844 gaa att start a-a end a-t ga- -tt frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a gaa (E) ata (I) aaa (K) gaa (E) att (I) gga (G) act (T) agg (R) tca (S) gaa (E) ata (I) aaa (K) gat (D) tgg (W) aac (N) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: gaa (E) aag (K) att (I) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 4 1309 E 1312 * 4 large_intestine APC 34 c.3927_3931delAAAGA p.E1309fs*4 length of cdnaseq = 8532 length of protseq = 2843 3927 3931 AAAGA 5 1309 3 1311 1 aaaga Total no. of codons in cdna seq = 2844 gaa att start a-a end a-t ga- -tt frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a gaa (E) ata (I) aaa (K) gaa (E) att (I) gga (G) act (T) agg (R) tca (S) gaa (E) ata (I) aaa (K) gat (D) tgg (W) aac (N) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: gaa (E) aag (K) att (I) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 4 1309 E 1312 * 4 large_intestine APC 3 c.3897_3897delT p.N1300fs*5 length of cdnaseq = 8532 length of protseq = 2843 3897 3897 T 1 1299 3 1299 3 t Total no. of codons in cdna seq = 2844 gct gct start c-t post a end t-a gc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tag at posn 1304 Protein length after deletion = 1303 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gca (A) gat (D) tct (S) gct (A) gct (A) aat (N) acc (T) ctg (L) caa (Q) gca (A) gat (D) tct (S) gca (A) ata (I) ccc (P) tgc (C) original frameshift length = 6 frameshift length = 6 frameshifted sequence: gca (A) ata (I) ccc (P) tgc (C) aaa (K) tag (TER) wild type sequence in deletion region: gct (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gct (A) gca (A) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 5 1300 N 1304 * 5 large_intestine APC 3 c.3920_3920delT p.I1307fs*14 length of cdnaseq = 8532 length of protseq = 2843 3920 3920 T 1 1307 2 1307 2 t Total no. of codons in cdna seq = 2844 ata ata start a-t end t-a a-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1320 Protein length after deletion = 1319 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ata (I) gca (A) gaa (E) ata (I) ata (I) aaa (K) gaa (E) aag (K) att (I) ata (I) gca (A) gaa (E) aaa (K) aag (K) aaa (K) aga (R) original frameshift length = 14 frameshift length = 14 frameshifted sequence: aaa (K) aag (K) aaa (K) aga (R) ttg (L) gaa (E) cta (L) ggt (G) cag (Q) ctg (L) aag (K) atc (I) ctg (L) tga (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 14 1307 I 1320 * 14 large_intestine APC 3 c.3922_3926delAAAGA p.E1309fs*4 length of cdnaseq = 8532 length of protseq = 2843 3922 3926 AAAGA 5 1308 1 1309 2 aaaga Total no. of codons in cdna seq = 2844 aaa gaa prev a start a-a end a-a --- --a frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a gca (A) gaa (E) ata (I) aaa (K) gaa (E) aag (K) att (I) gga (G) act (T) gca (A) gaa (E) ata (I) aaa (K) gat (D) tgg (W) aac (N) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aaa (K) gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: aaa (K) gaa (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 4 1309 E 1312 * 4 large_intestine APC 3 c.3928_3929delAA p.K1310fs*4 length of cdnaseq = 8532 length of protseq = 2843 3928 3929 AA 2 1310 1 1310 2 aa Total no. of codons in cdna seq = 2844 aag aag prev a start a-a end a-g --- --g frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tag at posn 1313 Protein length after deletion = 1312 Total no. of codons in del cdnaseq = 2844 last codon in array is a ata (I) aaa (K) gaa (E) aag (K) aag (K) att (I) gga (G) act (T) agg (R) ata (I) aaa (K) gaa (E) gat (D) tgg (W) aac (N) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 4 1310 K 1313 * 4 large_intestine APC 3 c.4050_4050delA p.A1351fs*64 length of cdnaseq = 8532 length of protseq = 2843 4050 4050 A 1 1350 3 1350 3 a Total no. of codons in cdna seq = 2844 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gcc (A) agg (R) cac (H) aaa (K) aaa (K) gct (A) gtt (V) gaa (E) ttt (F) gcc (A) agg (R) cac (H) aag (K) ctg (L) ttg (L) aat (N) original frameshift length = 65 frameshift length = 65 frameshifted sequence: aag (K) ctg (L) ttg (L) aat (N) ttt (F) ctt (L) cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 64 1351 A 1414 * 64 large_intestine APC 3 c.4060_4064delTTTTC p.S1355fs*18 length of cdnaseq = 8532 length of protseq = 2843 4060 4064 TTTTC 5 1354 1 1355 2 ttttc Total no. of codons in cdna seq = 2844 ttt tct prev a start a-t end c-t --- --t frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tga at posn 1372 Protein length after deletion = 1371 Total no. of codons in del cdnaseq = 2843 last codon in array is a gct (A) gtt (V) gaa (E) ttt (F) tct (S) tca (S) gga (G) gcg (A) aaa (K) gct (A) gtt (V) gaa (E) ttc (F) agg (R) agc (S) gaa (E) original frameshift length = 19 frameshift length = 19 frameshifted sequence: ttc (F) agg (R) agc (S) gaa (E) atc (I) tcc (S) ctc (L) caa (Q) aag (K) tgg (W) tgc (C) tca (S) gac (D) acc (T) caa (Q) aag (K) tcc (S) acc (T) tga (TER) wild type sequence in deletion region: ttt (F) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ttt (F) ttc (F) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 18 1355 S 1372 * 18 large_intestine APC 3 c.4221_4221delT p.S1407fs*8 length of cdnaseq = 8532 length of protseq = 2843 4221 4221 T 1 1407 3 1407 3 t Total no. of codons in cdna seq = 2844 agt agt start g-t post g end t-g ag- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tcc (S) gtt (V) cag (Q) agt (S) agt (S) gaa (E) cca (P) tgc (C) agt (S) tcc (S) gtt (V) cag (Q) agg (R) aac (N) cat (H) gca (A) original frameshift length = 8 frameshift length = 8 frameshifted sequence: agg (R) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 8 1407 S 1414 * 8 large_intestine APC 3 c.4239_4239delG p.V1414fs*1 length of cdnaseq = 8532 length of protseq = 2843 4239 4239 G 1 1413 3 1413 3 g Total no. of codons in cdna seq = 2844 atg atg start t-g post g end g-g at- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1414 Protein length after deletion = 1413 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tgc (C) agt (S) gga (G) atg (M) atg (M) gta (V) agt (S) ggc (G) att (I) tgc (C) agt (S) gga (G) atg (M) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: atg (M) taa (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: atg (M) atg (M) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 1414 V 1414 * 1 large_intestine APC 3 c.4248delC p.I1417fs*2 length of cdnaseq = 8532 length of protseq = 2843 4248 4248 C 1 1416 3 1416 3 c Total no. of codons in cdna seq = 2844 ggc ggc start g-c post a end c-a gg- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1418 Protein length after deletion = 1417 Total no. of codons in del cdnaseq = 2844 last codon in array is aa atg (M) gta (V) agt (S) ggc (G) ggc (G) att (I) ata (I) agc (S) ccc (P) atg (M) gta (V) agt (S) gga (G) tta (L) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gga (G) tta (L) taa (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggc (G) gga (G) first wt aa affected by frameshift deletion is : att (I) final frameshift length = 2 1417 I 1418 * 2 large_intestine APC 3 c.4316_4316delC p.P1439fs*34 length of cdnaseq = 8532 length of protseq = 2843 4316 4316 C 1 1439 2 1439 2 c Total no. of codons in cdna seq = 2844 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa agt (S) aaa (K) aca (T) cct (P) cct (P) cca (P) cca (P) cct (P) cct (P) agt (S) aaa (K) aca (T) ctc (L) cac (H) cac (H) ctc (L) original frameshift length = 34 frameshift length = 34 frameshifted sequence: ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 34 1439 P 1472 * 34 large_intestine APC 3 c.4358_4358delC p.P1453fs*20 length of cdnaseq = 8532 length of protseq = 2843 4358 4358 C 1 1453 2 1453 2 c Total no. of codons in cdna seq = 2844 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cga (R) gaa (E) gta (V) cct (P) cct (P) aaa (K) aat (N) aaa (K) gca (A) cga (R) gaa (E) gta (V) cta (L) aaa (K) ata (I) aag (K) original frameshift length = 20 frameshift length = 20 frameshifted sequence: cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 20 1453 P 1472 * 20 large_intestine APC 3 c.4392_4393delGA p.S1465fs*3 length of cdnaseq = 8532 length of protseq = 2843 4392 4393 GA 2 1464 3 1465 1 ga Total no. of codons in cdna seq = 2844 gag agt start a-g end a-g ga- -gt frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) aag (K) caa (Q) gaa (E) aag (K) aga (R) gag (E) tgg (W) acc (T) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gag (E) tgg (W) acc (T) taa (TER) wild type sequence in deletion region: gag (E) agt (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 1465 S 1467 * 3 large_intestine APC 3 c.4469_4469delA p.H1490fs*17 length of cdnaseq = 8532 length of protseq = 2843 4469 4469 A 1 1490 2 1490 2 a Total no. of codons in cdna seq = 2844 cat cat start c-a end a-t c-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa act (T) tta (L) tta (L) cat (H) cat (H) ttt (F) gcc (A) acg (T) gaa (E) act (T) tta (L) tta (L) ctt (L) ttg (L) cca (P) cgg (R) original frameshift length = 17 frameshift length = 17 frameshifted sequence: ctt (L) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 17 1490 H 1506 * 17 large_intestine APC 3 c.4473delT p.F1491fs*16 length of cdnaseq = 8532 length of protseq = 2843 4473 4473 T 1 1491 3 1491 3 t Total no. of codons in cdna seq = 2844 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tta (L) tta (L) cat (H) ttt (F) ttt (F) gcc (A) acg (T) gaa (E) agt (S) tta (L) tta (L) cat (H) ttg (L) cca (P) cgg (R) aaa (K) original frameshift length = 16 frameshift length = 16 frameshifted sequence: ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 16 1491 F 1506 * 16 large_intestine APC 3 c.4477_4477delA p.T1493fs*14 length of cdnaseq = 8532 length of protseq = 2843 4477 4477 A 1 1493 1 1493 1 a Total no. of codons in cdna seq = 2844 acg acg prev c start c-a end a-c --- -cg frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cat (H) ttt (F) gcc (A) acg (T) acg (T) gaa (E) agt (S) act (T) cca (P) cat (H) ttt (F) gcc (A) cgg (R) aaa (K) gta (V) ctc (L) original frameshift length = 14 frameshift length = 14 frameshifted sequence: cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: acg (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 14 1493 T 1506 * 14 large_intestine APC 3 c.4479_4480delGG p.E1494fs*19 length of cdnaseq = 8532 length of protseq = 2843 4479 4480 GG 2 1493 3 1494 1 gg Total no. of codons in cdna seq = 2844 acg gaa start c-g end g-a ac- -aa frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1512 Protein length after deletion = 1511 Total no. of codons in del cdnaseq = 2844 last codon in array is a cat (H) ttt (F) gcc (A) acg (T) gaa (E) agt (S) act (T) cca (P) gat (D) cat (H) ttt (F) gcc (A) aca (T) aag (K) tac (Y) tcc (S) original frameshift length = 20 frameshift length = 20 frameshifted sequence: aca (T) aag (K) tac (Y) tcc (S) aga (R) tgg (W) att (I) ttc (F) ttg (L) ttc (F) atc (I) cag (Q) cct (P) gag (E) tgc (C) tct (S) gag (E) cct (P) cga (R) tga (TER) wild type sequence in deletion region: acg (T) gaa (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: acg (T) aca (T) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 19 1494 E 1512 * 19 large_intestine APC 4 c.3925_3929delGAAAA p.E1309fs*4 length of cdnaseq = 8532 length of protseq = 2843 3925 3929 GAAAA 5 1309 1 1310 2 gaaaa Total no. of codons in cdna seq = 2844 gaa aag prev a start a-g end a-g --- --g frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a gaa (E) ata (I) aaa (K) gaa (E) aag (K) att (I) gga (G) act (T) agg (R) gaa (E) ata (I) aaa (K) gat (D) tgg (W) aac (N) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: gaa (E) aag (K) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 4 1309 E 1312 * 4 large_intestine APC 4 c.4008_4014delACTGCAG p.L1337fs*76 length of cdnaseq = 8532 length of protseq = 2843 4008 4014 ACTGCAG 7 1336 3 1338 3 actgcag Total no. of codons in cdna seq = 2844 aga cag start g-a post g end g-g ag- --- frameshift deletion length of cdnaseq after deletion = 8525 ter codon is taa at posn 1412 Protein length after deletion = 1411 Total no. of codons in del cdnaseq = 2842 last codon in array is aa aaa (K) tcc (S) agc (S) aga (R) cag (Q) ggt (G) tct (S) agt (S) tta (L) aaa (K) tcc (S) agc (S) agg (R) gtt (V) cta (L) gtt (V) original frameshift length = 77 frameshift length = 77 frameshifted sequence: agg (R) gtt (V) cta (L) gtt (V) tat (Y) ctt (L) cag (Q) aat (N) cag (Q) cca (P) ggc (G) aca (T) aag (K) ctg (L) ttg (L) aat (N) ttt (F) ctt (L) cag (Q) gag (E) cga (R) aat (N) ctc (L) cct (P) cca (P) aaa (K) gtg (V) gtg (V) ctc (L) aga (R) cac (H) cca (P) aaa (K) gtc (V) cac (H) ctg (L) aac (N) act (T) atg (M) ttc (F) agg (R) aga (R) ccc (P) cac (H) tca (S) tgt (C) tta (L) gca (A) gat (D) gta (V) ctt (L) ctg (L) tca (S) gtt (V) cac (H) ttg (L) ata (I) gtt (V) ttg (L) aga (R) gtc (V) gtt (V) cga (R) ttg (L) cca (P) gct (A) ccg (P) ttc (F) aga (R) gtg (V) aac (N) cat (H) gca (A) gtg (V) gaa (E) tgg (W) taa (TER) wild type sequence in deletion region: aga (R) ctg (L) cag (Q) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: aga (R) agg (R) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 76 1337 L 1412 * 76 large_intestine APC 4 c.4189_4190delGA p.R1399fs*9 length of cdnaseq = 8532 length of protseq = 2843 4189 4190 GA 2 1397 1 1397 2 ga Total no. of codons in cdna seq = 2844 gag gag prev t start t-g end a-g --- --g frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1407 Protein length after deletion = 1406 Total no. of codons in del cdnaseq = 2844 last codon in array is a gat (D) agt (S) ttt (F) gag (E) gag (E) agt (S) cgt (R) tcg (S) att (I) gat (D) agt (S) ttt (F) gag (E) tcg (S) ttc (F) gat (D) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gag (E) tcg (S) ttc (F) gat (D) tgc (C) cag (Q) ctc (L) cgt (R) tca (S) gag (E) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) matching aa in delstart region of wt and deletion mutant: agt (S) tcg (S) first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 9 1399 R 1407 * 9 large_intestine APC 4 c.4260_4260delC p.S1421fs*52 length of cdnaseq = 8532 length of protseq = 2843 4260 4260 C 1 1420 3 1420 3 c Total no. of codons in cdna seq = 2844 ccc ccc start c-c post a end c-a cc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa att (I) ata (I) agc (S) ccc (P) ccc (P) agt (S) gat (D) ctt (L) cca (P) att (I) ata (I) agc (S) cca (P) gtg (V) atc (I) ttc (F) original frameshift length = 53 frameshift length = 53 frameshifted sequence: cca (P) gtg (V) atc (I) ttc (F) cag (Q) ata (I) gcc (A) ctg (L) gac (D) aaa (K) cca (P) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 52 1421 S 1472 * 52 large_intestine APC 4 c.4290_4290delC p.M1431fs*42 length of cdnaseq = 8532 length of protseq = 2843 4290 4290 C 1 1430 3 1430 3 c Total no. of codons in cdna seq = 2844 acc acc start c-c post a end c-a ac- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cct (P) gga (G) caa (Q) acc (T) acc (T) atg (M) cca (P) cca (P) agc (S) cct (P) gga (G) caa (Q) aca (T) tgc (C) cac (H) caa (Q) original frameshift length = 43 frameshift length = 43 frameshifted sequence: aca (T) tgc (C) cac (H) caa (Q) gca (A) gaa (E) gta (V) aaa (K) cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acc (T) aca (T) first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 42 1431 M 1472 * 42 large_intestine APC 4 c.4328_4328delC p.P1443fs*30 length of cdnaseq = 8532 length of protseq = 2843 4328 4328 C 1 1443 2 1443 2 c Total no. of codons in cdna seq = 2844 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa cca (P) cca (P) cct (P) cct (P) cct (P) caa (Q) aca (T) gct (A) caa (Q) cca (P) cca (P) cct (P) ctc (L) aaa (K) cag (Q) ctc (L) original frameshift length = 30 frameshift length = 30 frameshifted sequence: ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 30 1443 P 1472 * 30 large_intestine APC 4 c.4364_4364delA p.N1455fs*18 length of cdnaseq = 8532 length of protseq = 2843 4364 4364 A 1 1455 2 1455 2 a Total no. of codons in cdna seq = 2844 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gta (V) cct (P) aaa (K) aat (N) aat (N) aaa (K) gca (A) cct (P) act (T) gta (V) cct (P) aaa (K) ata (I) aag (K) cac (H) cta (L) original frameshift length = 18 frameshift length = 18 frameshifted sequence: ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 18 1455 N 1472 * 18 large_intestine APC 4 c.4463_4463delT p.L1488fs*19 length of cdnaseq = 8532 length of protseq = 2843 4463 4463 T 1 1488 2 1488 2 t Total no. of codons in cdna seq = 2844 tta tta start t-t end t-a t-- --a frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) gat (D) act (T) tta (L) tta (L) tta (L) cat (H) ttt (F) gcc (A) gct (A) gat (D) act (T) tat (Y) tac (Y) att (I) ttg (L) original frameshift length = 19 frameshift length = 19 frameshifted sequence: tat (Y) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 19 1488 L 1506 * 19 large_intestine APC 4 c.4464_4464delA p.L1488fs*19 length of cdnaseq = 8532 length of protseq = 2843 4464 4464 A 1 1488 3 1488 3 a Total no. of codons in cdna seq = 2844 tta tta start t-a post t end a-t tt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gct (A) gat (D) act (T) tta (L) tta (L) tta (L) cat (H) ttt (F) gcc (A) gct (A) gat (D) act (T) ttt (F) tac (Y) att (I) ttg (L) original frameshift length = 19 frameshift length = 19 frameshifted sequence: ttt (F) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 19 1488 L 1506 * 19 large_intestine APC 4 c.4480_4480delG p.E1494fs*13 length of cdnaseq = 8532 length of protseq = 2843 4480 4480 G 1 1494 1 1494 1 g Total no. of codons in cdna seq = 2844 gaa gaa prev g start g-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa ttt (F) gcc (A) acg (T) gaa (E) gaa (E) agt (S) act (T) cca (P) gat (D) ttt (F) gcc (A) acg (T) aaa (K) gta (V) ctc (L) cag (Q) original frameshift length = 13 frameshift length = 13 frameshifted sequence: aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 13 1494 E 1506 * 13 stomach APC 4 c.4391_4394delAGAG p.E1464fs*8 length of cdnaseq = 8532 length of protseq = 2843 4391 4394 AGAG 4 1464 2 1465 2 agag Total no. of codons in cdna seq = 2844 gag agt start g-a end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) aag (K) caa (Q) gaa (E) aag (K) aga (R) gtg (V) gac (D) cta (L) agc (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: gag (E) agt (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 8 1464 E 1471 * 8 large_intestine APC 5 c.4199_4199delC p.S1400fs*1 length of cdnaseq = 8532 length of protseq = 2843 4199 4199 C 1 1400 2 1400 2 c Total no. of codons in cdna seq = 2844 tcg tcg start t-c end c-g t-- --g frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1400 Protein length after deletion = 1399 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gag (E) agt (S) cgt (R) tcg (S) tcg (S) att (I) gcc (A) agc (S) tcc (S) gag (E) agt (S) cgt (R) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tcg (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tcg (S) final frameshift length = 1 1400 S 1400 * 1 large_intestine APC 5 c.4318_4318delC p.P1440fs*33 length of cdnaseq = 8532 length of protseq = 2843 4318 4318 C 1 1440 1 1440 1 c Total no. of codons in cdna seq = 2844 cca cca prev t start t-c end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aaa (K) aca (T) cct (P) cca (P) cca (P) cca (P) cct (P) cct (P) caa (Q) aaa (K) aca (T) cct (P) cac (H) cac (H) ctc (L) ctc (L) original frameshift length = 33 frameshift length = 33 frameshifted sequence: cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 33 1440 P 1472 * 33 large_intestine APC 5 c.4332_4335delAACA p.T1445fs*27 length of cdnaseq = 8532 length of protseq = 2843 4332 4335 AACA 4 1444 3 1445 3 aaca Total no. of codons in cdna seq = 2844 caa aca start a-a post g end a-g ca- --- frameshift deletion length of cdnaseq after deletion = 8528 ter codon is taa at posn 1471 Protein length after deletion = 1470 Total no. of codons in del cdnaseq = 2843 last codon in array is aa cca (P) cct (P) cct (P) caa (Q) aca (T) gct (A) caa (Q) acc (T) aag (K) cca (P) cct (P) cct (P) cag (Q) ctc (L) aaa (K) cca (P) original frameshift length = 28 frameshift length = 28 frameshifted sequence: cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: caa (Q) aca (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: caa (Q) cag (Q) first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 27 1445 T 1471 * 27 large_intestine APC 5 c.4386_4387delGA p.S1465fs*3 length of cdnaseq = 8532 length of protseq = 2843 4386 4387 GA 2 1462 3 1463 1 ga Total no. of codons in cdna seq = 2844 aag aga start a-g end a-g aa- -ga frameshift deletion length of cdnaseq after deletion = 8530 ter codon is taa at posn 1467 Protein length after deletion = 1466 Total no. of codons in del cdnaseq = 2844 last codon in array is a act (T) gct (A) gaa (E) aag (K) aga (R) gag (E) agt (S) gga (G) cct (P) act (T) gct (A) gaa (E) aag (K) aga (R) gag (E) tgg (W) original frameshift length = 6 frameshift length = 6 frameshifted sequence: aag (K) aga (R) gag (E) tgg (W) acc (T) taa (TER) wild type sequence in deletion region: aag (K) aga (R) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aag (K) aag (K) matching aa in delstart region of wt and deletion mutant: aga (R) aga (R) matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 1465 S 1467 * 3 large_intestine APC 5 c.4461_4461delT p.L1488fs*19 length of cdnaseq = 8532 length of protseq = 2843 4461 4461 T 1 1487 3 1487 3 t Total no. of codons in cdna seq = 2844 act act start c-t post t end t-t ac- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa gat (D) gct (A) gat (D) act (T) act (T) tta (L) tta (L) cat (H) ttt (F) gat (D) gct (A) gat (D) act (T) tat (Y) tac (Y) att (I) original frameshift length = 20 frameshift length = 20 frameshifted sequence: act (T) tat (Y) tac (Y) att (I) ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: act (T) act (T) first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 19 1488 L 1506 * 19 stomach APC 5 c.3927_3931delAAAGA p.E1309fs*4 length of cdnaseq = 8532 length of protseq = 2843 3927 3931 AAAGA 5 1309 3 1311 1 aaaga Total no. of codons in cdna seq = 2844 gaa att start a-a end a-t ga- -tt frameshift deletion length of cdnaseq after deletion = 8527 ter codon is tag at posn 1312 Protein length after deletion = 1311 Total no. of codons in del cdnaseq = 2843 last codon in array is a gaa (E) ata (I) aaa (K) gaa (E) att (I) gga (G) act (T) agg (R) tca (S) gaa (E) ata (I) aaa (K) gat (D) tgg (W) aac (N) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gat (D) tgg (W) aac (N) tag (TER) wild type sequence in deletion region: gaa (E) aag (K) att (I) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 4 1309 E 1312 * 4 large_intestine APC 6 c.4192_4193delAG p.R1399fs*9 length of cdnaseq = 8532 length of protseq = 2843 4192 4193 AG 2 1398 1 1398 2 ag Total no. of codons in cdna seq = 2844 agt agt prev g start g-a end g-t --- --t frameshift deletion length of cdnaseq after deletion = 8530 ter codon is tga at posn 1407 Protein length after deletion = 1406 Total no. of codons in del cdnaseq = 2844 last codon in array is a agt (S) ttt (F) gag (E) agt (S) agt (S) cgt (R) tcg (S) att (I) gcc (A) agt (S) ttt (F) gag (E) tcg (S) ttc (F) gat (D) tgc (C) original frameshift length = 10 frameshift length = 10 frameshifted sequence: tcg (S) ttc (F) gat (D) tgc (C) cag (Q) ctc (L) cgt (R) tca (S) gag (E) tga (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agt (S) tcg (S) first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 9 1399 R 1407 * 9 large_intestine APC 7 c.4473_4473delT p.F1491fs*16 length of cdnaseq = 8532 length of protseq = 2843 4473 4473 T 1 1491 3 1491 3 t Total no. of codons in cdna seq = 2844 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tta (L) tta (L) cat (H) ttt (F) ttt (F) gcc (A) acg (T) gaa (E) agt (S) tta (L) tta (L) cat (H) ttg (L) cca (P) cgg (R) aaa (K) original frameshift length = 16 frameshift length = 16 frameshifted sequence: ttg (L) cca (P) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 16 1491 F 1506 * 16 large_intestine APC 7 c.4476_4476delC p.T1493fs*14 length of cdnaseq = 8532 length of protseq = 2843 4476 4476 C 1 1492 3 1492 3 c Total no. of codons in cdna seq = 2844 gcc gcc start c-c post a end c-a gc- --- frameshift deletion length of cdnaseq after deletion = 8531 ter codon is tga at posn 1506 Protein length after deletion = 1505 Total no. of codons in del cdnaseq = 2844 last codon in array is aa tta (L) cat (H) ttt (F) gcc (A) gcc (A) acg (T) gaa (E) agt (S) act (T) tta (L) cat (H) ttt (F) gca (A) cgg (R) aaa (K) gta (V) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gca (A) cgg (R) aaa (K) gta (V) ctc (L) cag (Q) atg (M) gat (D) ttt (F) ctt (L) gtt (V) cat (H) cca (P) gcc (A) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 14 1493 T 1506 * 14 large_intestine APC 8 c.4312_4312delA p.T1438fs*35 length of cdnaseq = 8532 length of protseq = 2843 4312 4312 A 1 1438 1 1438 1 a Total no. of codons in cdna seq = 2844 aca aca prev a start a-a end a-c --- -ca frameshift deletion length of cdnaseq after deletion = 8531 ter codon is taa at posn 1472 Protein length after deletion = 1471 Total no. of codons in del cdnaseq = 2844 last codon in array is aa aga (R) agt (S) aaa (K) aca (T) aca (T) cct (P) cca (P) cca (P) cct (P) aga (R) agt (S) aaa (K) cac (H) ctc (L) cac (H) cac (H) original frameshift length = 35 frameshift length = 35 frameshifted sequence: cac (H) ctc (L) cac (H) cac (H) ctc (L) ctc (L) aaa (K) cag (Q) ctc (L) aaa (K) cca (P) agc (S) gag (E) aag (K) tac (Y) cta (L) aaa (K) ata (I) aag (K) cac (H) cta (L) ctg (L) ctg (L) aaa (K) aga (R) gag (E) aga (R) gtg (V) gac (D) cta (L) agc (S) aag (K) ctg (L) cag (Q) taa (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 35 1438 T 1472 * 35 haematopoietic_and_lymphoid_tissue ASXL1 1 c.2385_2385delC p.W796fs*22 length of cdnaseq = 4626 length of protseq = 1541 2385 2385 C 1 795 3 795 3 c Total no. of codons in cdna seq = 1542 tcc tcc start c-c post t end c-t tc- --- frameshift deletion length of cdnaseq after deletion = 4625 ter codon is tag at posn 817 Protein length after deletion = 816 Total no. of codons in del cdnaseq = 1542 last codon in array is aa ggc (G) acc (T) act (T) tcc (S) tcc (S) tgg (W) gaa (E) agt (S) gat (D) ggc (G) acc (T) act (T) tct (S) ggg (G) aaa (K) gtg (V) original frameshift length = 23 frameshift length = 23 frameshifted sequence: tct (S) ggg (G) aaa (K) gtg (V) atg (M) atg (M) agg (R) agc (S) aag (K) gac (D) cca (P) ccg (P) ttc (F) ctg (L) cag (Q) aca (T) atg (M) gtc (V) cca (P) ttc (F) tgt (C) ctc (L) tag (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcc (S) tct (S) first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 22 796 W 817 * 22 breast ATM 1 c.2563_2566delATGA p.M855fs*24 length of cdnaseq = 9171 length of protseq = 3056 2563 2566 ATGA 4 855 1 856 1 atga Total no. of codons in cdna seq = 3057 atg aat prev c start c-a end a-a --- -at frameshift deletion length of cdnaseq after deletion = 9167 ter codon is tag at posn 878 Protein length after deletion = 877 Total no. of codons in del cdnaseq = 3056 last codon in array is ga cag (Q) tca (S) tcc (S) atg (M) aat (N) cta (L) ttt (F) aac (N) gat (D) cag (Q) tca (S) tcc (S) atc (I) tat (Y) tta (L) acg (T) original frameshift length = 24 frameshift length = 24 frameshifted sequence: atc (I) tat (Y) tta (L) acg (T) att (I) acc (T) ctg (L) ata (I) gta (V) gtg (V) tta (L) gtg (V) atg (M) caa (Q) acg (T) aac (N) ctg (L) gag (E) aga (R) gcc (A) aaa (K) gta (V) cca (P) tag (TER) wild type sequence in deletion region: atg (M) aat (N) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 24 855 M 878 * 24 haematopoietic_and_lymphoid_tissue ATM 1 c.1562_1563delGA p.E522fs*43 length of cdnaseq = 9171 length of protseq = 3056 1562 1563 GA 2 521 2 521 3 ga Total no. of codons in cdna seq = 3057 aga aga start a-g post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 9169 ter codon is tga at posn 564 Protein length after deletion = 563 Total no. of codons in del cdnaseq = 3057 last codon in array is a gag (E) gtt (V) gac (D) aga (R) aga (R) gaa (E) ttc (F) tgg (W) aag (K) gag (E) gtt (V) gac (D) aga (R) att (I) ctg (L) gaa (E) original frameshift length = 44 frameshift length = 44 frameshifted sequence: aga (R) att (I) ctg (L) gaa (E) gtt (V) att (I) tac (Y) tgg (W) gtc (V) agc (S) ctg (L) cag (Q) acc (T) ttc (F) atg (M) tcc (S) tgc (C) agt (S) atg (M) ctg (L) ttt (F) gac (D) ttt (F) ggc (G) act (T) gac (D) cac (H) cag (Q) tat (Y) agt (S) tcc (S) agg (R) agc (S) ggt (G) aaa (K) aat (N) ggg (G) aat (N) aga (R) gca (A) aaa (K) tat (Y) gtg (V) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aga (R) aga (R) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 43 522 E 564 * 43 haematopoietic_and_lymphoid_tissue ATM 1 c.1564_1565delGA p.E522fs*43 length of cdnaseq = 9171 length of protseq = 3056 1564 1565 GA 2 522 1 522 2 ga Total no. of codons in cdna seq = 3057 gaa gaa prev a start a-g end a-a --- --a frameshift deletion length of cdnaseq after deletion = 9169 ter codon is tga at posn 564 Protein length after deletion = 563 Total no. of codons in del cdnaseq = 3057 last codon in array is a gtt (V) gac (D) aga (R) gaa (E) gaa (E) ttc (F) tgg (W) aag (K) tta (L) gtt (V) gac (D) aga (R) att (I) ctg (L) gaa (E) gtt (V) original frameshift length = 43 frameshift length = 43 frameshifted sequence: att (I) ctg (L) gaa (E) gtt (V) att (I) tac (Y) tgg (W) gtc (V) agc (S) ctg (L) cag (Q) acc (T) ttc (F) atg (M) tcc (S) tgc (C) agt (S) atg (M) ctg (L) ttt (F) gac (D) ttt (F) ggc (G) act (T) gac (D) cac (H) cag (Q) tat (Y) agt (S) tcc (S) agg (R) agc (S) ggt (G) aaa (K) aat (N) ggg (G) aat (N) aga (R) gca (A) aaa (K) tat (Y) gtg (V) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 43 522 E 564 * 43 haematopoietic_and_lymphoid_tissue ATM 1 c.2119_2123delTCTGA p.S707fs*29 length of cdnaseq = 9171 length of protseq = 3056 2119 2123 TCTGA 5 707 1 708 2 tctga Total no. of codons in cdna seq = 3057 tct gag prev a start a-t end a-g --- --g frameshift deletion length of cdnaseq after deletion = 9166 ter codon is tga at posn 735 Protein length after deletion = 734 Total no. of codons in del cdnaseq = 3056 last codon in array is a aat (N) tac (Y) tca (S) tct (S) gag (E) att (I) aca (T) aat (N) tca (S) aat (N) tac (Y) tca (S) gat (D) tac (Y) aaa (K) ttc (F) original frameshift length = 29 frameshift length = 29 frameshifted sequence: gat (D) tac (Y) aaa (K) ttc (F) aga (R) aac (N) tct (S) tgt (C) ccg (P) gtg (V) ttc (F) acg (T) tct (S) ttt (F) ggt (G) ggg (G) tgt (C) cct (P) tgg (W) ctg (L) cta (L) ctg (L) tta (L) cat (H) ggg (G) tgt (C) aat (N) agc (S) tga (TER) wild type sequence in deletion region: tct (S) gag (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 29 707 S 735 * 29 haematopoietic_and_lymphoid_tissue ATM 1 c.2684_2684delT p.L895fs*4 length of cdnaseq = 9171 length of protseq = 3056 2684 2684 T 1 895 2 895 2 t Total no. of codons in cdna seq = 3057 cta cta start c-t end t-a c-- --a frameshift deletion length of cdnaseq after deletion = 9170 ter codon is tag at posn 898 Protein length after deletion = 897 Total no. of codons in del cdnaseq = 3057 last codon in array is ga aag (K) caa (Q) gat (D) cta (L) cta (L) ctt (L) ttc (F) tta (L) gac (D) aag (K) caa (Q) gat (D) cac (H) ttt (F) tct (S) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: cac (H) ttt (F) tct (S) tag (TER) wild type sequence in deletion region: cta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cta (L) final frameshift length = 4 895 L 898 * 4 haematopoietic_and_lymphoid_tissue ATM 1 c.3625_3626delTT p.F1209fs*19 length of cdnaseq = 9171 length of protseq = 3056 3625 3626 TT 2 1209 1 1209 2 tt Total no. of codons in cdna seq = 3057 ttt ttt prev c start c-t end t-t --- --t frameshift deletion length of cdnaseq after deletion = 9169 ter codon is tga at posn 1227 Protein length after deletion = 1226 Total no. of codons in del cdnaseq = 3057 last codon in array is a tta (L) gaa (E) gac (D) ttt (F) ttt (F) atg (M) gca (A) tct (S) cat (H) tta (L) gaa (E) gac (D) tat (Y) ggc (G) atc (I) tca (S) original frameshift length = 19 frameshift length = 19 frameshifted sequence: tat (Y) ggc (G) atc (I) tca (S) ttt (F) aga (R) tta (L) tct (S) ggt (G) ttt (F) gga (G) atg (M) gct (A) aaa (K) tct (S) tca (S) aga (R) tac (Y) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 19 1209 F 1227 * 19 haematopoietic_and_lymphoid_tissue ATM 1 c.3706_3709delTTTA p.I1237fs*2 length of cdnaseq = 9171 length of protseq = 3056 3706 3709 TTTA 4 1236 1 1237 1 ttta Total no. of codons in cdna seq = 3057 ttt att prev t start t-t end a-t --- -tt frameshift deletion length of cdnaseq after deletion = 9167 ter codon is taa at posn 1238 Protein length after deletion = 1237 Total no. of codons in del cdnaseq = 3056 last codon in array is ga tct (S) ttt (F) cct (P) ttt (F) att (I) tta (L) tta (L) aac (N) tac (Y) tct (S) ttt (F) cct (P) ttt (F) tat (Y) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: ttt (F) tat (Y) taa (TER) wild type sequence in deletion region: ttt (F) att (I) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ttt (F) ttt (F) first wt aa affected by frameshift deletion is : att (I) final frameshift length = 2 1237 I 1238 * 2 haematopoietic_and_lymphoid_tissue ATM 1 c.3910_3916delAGAGACA p.R1304fs*43 length of cdnaseq = 9171 length of protseq = 3056 3910 3916 AGAGACA 7 1304 1 1306 1 agagaca Total no. of codons in cdna seq = 3057 aga agt prev c start c-a end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 9164 ter codon is tga at posn 1346 Protein length after deletion = 1345 Total no. of codons in del cdnaseq = 3055 last codon in array is ga gag (E) ggt (G) acc (T) aga (R) agt (S) ggg (G) atg (M) gca (A) cag (Q) gag (E) ggt (G) acc (T) gtg (V) gga (G) tgg (W) cac (H) original frameshift length = 43 frameshift length = 43 frameshifted sequence: gtg (V) gga (G) tgg (W) cac (H) agc (S) aaa (K) gag (E) aga (R) ctg (L) cta (L) cca (P) agg (R) tct (S) atg (M) ata (I) tgc (C) tta (L) aaa (K) gtg (V) aaa (K) act (T) tat (Y) tgg (W) gaa (E) aac (N) aga (R) ttg (L) atc (I) act (T) tat (Y) tca (S) tta (L) gta (V) att (I) tac (Y) cag (Q) aga (R) ttg (L) tgg (W) tgg (W) agt (S) tat (Y) tga (TER) wild type sequence in deletion region: aga (R) gac (D) agt (S) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 43 1304 R 1346 * 43 haematopoietic_and_lymphoid_tissue ATM 1 c.5047_5051delTTCTC p.F1683fs*7 length of cdnaseq = 9171 length of protseq = 3056 5047 5051 TTCTC 5 1683 1 1684 2 ttctc Total no. of codons in cdna seq = 3057 ttc tct prev t start t-t end c-t --- --t frameshift deletion length of cdnaseq after deletion = 9166 ter codon is tag at posn 1689 Protein length after deletion = 1688 Total no. of codons in del cdnaseq = 3056 last codon in array is a cct (P) ata (I) gat (D) ttc (F) tct (S) acc (T) ata (I) gct (A) ata (I) cct (P) ata (I) gat (D) tac (Y) cat (H) agc (S) tat (Y) original frameshift length = 7 frameshift length = 7 frameshifted sequence: tac (Y) cat (H) agc (S) tat (Y) aca (T) aca (T) tag (TER) wild type sequence in deletion region: ttc (F) tct (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 7 1683 F 1689 * 7 haematopoietic_and_lymphoid_tissue ATM 1 c.5122_5122delC p.L1708fs*6 length of cdnaseq = 9171 length of protseq = 3056 5122 5122 C 1 1708 1 1708 1 c Total no. of codons in cdna seq = 3057 ctt ctt prev a start a-c end c-t --- -tt frameshift deletion length of cdnaseq after deletion = 9170 ter codon is taa at posn 1713 Protein length after deletion = 1712 Total no. of codons in del cdnaseq = 3057 last codon in array is ga gat (D) aaa (K) gaa (E) ctt (L) ctt (L) cag (Q) tgg (W) acc (T) ttc (F) gat (D) aaa (K) gaa (E) ttc (F) agt (S) gga (G) cct (P) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ttc (F) agt (S) gga (G) cct (P) tca (S) taa (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 6 1708 L 1713 * 6 haematopoietic_and_lymphoid_tissue ATM 1 c.5203_5210delACCTGTTT p.T1735fs*11 length of cdnaseq = 9171 length of protseq = 3056 5203 5210 ACCTGTTT 8 1735 1 1737 2 acctgttt Total no. of codons in cdna seq = 3057 acc ttg prev t start t-a end t-g --- --g frameshift deletion length of cdnaseq after deletion = 9163 ter codon is tag at posn 1745 Protein length after deletion = 1744 Total no. of codons in del cdnaseq = 3055 last codon in array is a gca (A) gct (A) gtt (V) acc (T) ttg (L) aaa (K) aac (N) att (I) tta (L) gca (A) gct (A) gtt (V) gaa (E) aaa (K) cat (H) ttt (F) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gaa (E) aaa (K) cat (H) ttt (F) agc (S) cac (H) aaa (K) gac (D) tgg (W) aca (T) tag (TER) wild type sequence in deletion region: acc (T) tgt (C) ttg (L) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 11 1735 T 1745 * 11 haematopoietic_and_lymphoid_tissue ATM 1 c.5290_5290delC p.L1764fs*12 length of cdnaseq = 9171 length of protseq = 3056 5290 5290 C 1 1764 1 1764 1 c Total no. of codons in cdna seq = 3057 cta cta prev t start t-c end c-t --- -ta frameshift deletion length of cdnaseq after deletion = 9170 ter codon is tag at posn 1775 Protein length after deletion = 1774 Total no. of codons in del cdnaseq = 3057 last codon in array is ga ctg (L) gcc (A) tat (Y) cta (L) cta (L) cag (Q) cct (P) ttt (F) aga (R) ctg (L) gcc (A) tat (Y) tac (Y) agc (S) ctt (L) tta (L) original frameshift length = 12 frameshift length = 12 frameshifted sequence: tac (Y) agc (S) ctt (L) tta (L) gaa (E) cat (H) caa (Q) gaa (E) aaa (K) agt (S) ttt (F) tag (TER) wild type sequence in deletion region: cta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cta (L) final frameshift length = 12 1764 L 1775 * 12 haematopoietic_and_lymphoid_tissue ATM 1 c.6638_6638delA p.K2213fs*22 length of cdnaseq = 9171 length of protseq = 3056 6638 6638 A 1 2213 2 2213 2 a Total no. of codons in cdna seq = 3057 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 9170 ter codon is tga at posn 2234 Protein length after deletion = 2233 Total no. of codons in del cdnaseq = 3057 last codon in array is ga cag (Q) ctt (L) ctc (L) aag (K) aag (K) gac (D) agt (S) gat (D) ttt (F) cag (Q) ctt (L) ctc (L) agg (R) aca (T) gtg (V) att (I) original frameshift length = 22 frameshift length = 22 frameshifted sequence: agg (R) aca (T) gtg (V) att (I) tta (L) gtt (V) ttc (F) agg (R) agc (S) cta (L) tca (S) tgg (W) ctc (L) tac (Y) gca (A) cag (Q) tca (S) ttt (F) tgg (W) aga (R) tcc (S) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 22 2213 K 2234 * 22 haematopoietic_and_lymphoid_tissue ATM 1 c.6709_6710delAA p.K2237fs*11 length of cdnaseq = 9171 length of protseq = 3056 6709 6710 AA 2 2237 1 2237 2 aa Total no. of codons in cdna seq = 3057 aag aag prev a start a-a end a-g --- --g frameshift deletion length of cdnaseq after deletion = 9169 ter codon is taa at posn 2247 Protein length after deletion = 2246 Total no. of codons in del cdnaseq = 3057 last codon in array is a ctg (L) atg (M) gaa (E) aag (K) aag (K) gaa (E) atg (M) gac (D) aac (N) ctg (L) atg (M) gaa (E) gga (G) aat (N) gga (G) caa (Q) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gga (G) aat (N) gga (G) caa (Q) ctc (L) aca (T) aag (K) aga (R) atg (M) tat (Y) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 11 2237 K 2247 * 11 haematopoietic_and_lymphoid_tissue ATM 1 c.6815_6815delA p.R2273fs*37 length of cdnaseq = 9171 length of protseq = 3056 6815 6815 A 1 2272 2 2272 2 a Total no. of codons in cdna seq = 3057 gaa gaa start g-a end a-a g-- --a frameshift deletion length of cdnaseq after deletion = 9170 ter codon is tga at posn 2309 Protein length after deletion = 2308 Total no. of codons in del cdnaseq = 3057 last codon in array is ga cag (Q) ctc (L) cct (P) gaa (E) gaa (E) agg (R) gca (A) ata (I) ttt (F) cag (Q) ctc (L) cct (P) gaa (E) ggg (G) caa (Q) tat (Y) original frameshift length = 38 frameshift length = 38 frameshifted sequence: gaa (E) ggg (G) caa (Q) tat (Y) ttc (F) aaa (K) tta (L) aac (N) agt (S) aca (T) att (I) cag (Q) tta (L) gct (A) gtg (V) gag (E) tct (S) ctg (L) agt (S) ggc (G) agc (S) tgg (W) aag (K) aag (K) cac (H) aag (K) tat (Y) tct (S) ggg (G) caa (Q) aaa (K) agg (R) agc (S) aga (R) gtc (V) ttg (L) ccc (P) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 37 2273 R 2309 * 37 haematopoietic_and_lymphoid_tissue ATM 1 c.7196_7196delA p.R2400fs*6 length of cdnaseq = 9171 length of protseq = 3056 7196 7196 A 1 2399 2 2399 2 a Total no. of codons in cdna seq = 3057 caa caa start c-a end a-a c-- --a frameshift deletion length of cdnaseq after deletion = 9170 ter codon is tga at posn 2405 Protein length after deletion = 2404 Total no. of codons in del cdnaseq = 3057 last codon in array is ga act (T) caa (Q) tac (Y) caa (Q) caa (Q) aga (R) att (I) gaa (E) aac (N) act (T) caa (Q) tac (Y) caa (Q) gaa (E) ttg (L) aaa (K) original frameshift length = 7 frameshift length = 7 frameshifted sequence: caa (Q) gaa (E) ttg (L) aaa (K) act (T) aca (T) tga (TER) wild type sequence in deletion region: caa (Q) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: caa (Q) caa (Q) first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 6 2400 R 2405 * 6 haematopoietic_and_lymphoid_tissue ATM 1 c.73_76delAAAG p.E26fs*7 length of cdnaseq = 9171 length of protseq = 3056 73 76 AAAG 4 25 1 26 1 aaag Total no. of codons in cdna seq = 3057 aaa gaa prev g start g-a end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 9167 ter codon is tga at posn 32 Protein length after deletion = 31 Total no. of codons in del cdnaseq = 3056 last codon in array is ga gaa (E) cga (R) aag (K) aaa (K) gaa (E) gtt (V) gag (E) aaa (K) ttt (F) gaa (E) cga (R) aag (K) aag (K) ttg (L) aga (R) aat (N) original frameshift length = 8 frameshift length = 8 frameshifted sequence: aag (K) ttg (L) aga (R) aat (N) tta (L) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: aaa (K) gaa (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 7 26 E 32 * 7 haematopoietic_and_lymphoid_tissue ATM 1 c.8412_8412delA p.M2805fs*1 length of cdnaseq = 9171 length of protseq = 3056 8412 8412 A 1 2804 3 2804 3 a Total no. of codons in cdna seq = 3057 aaa aaa start a-a post a end a-a aa- --- frameshift deletion length of cdnaseq after deletion = 9170 ter codon is tga at posn 2805 Protein length after deletion = 2804 Total no. of codons in del cdnaseq = 3057 last codon in array is ga tgc (C) caa (Q) aag (K) aaa (K) aaa (K) atg (M) atg (M) gag (E) gtg (V) tgc (C) caa (Q) aag (K) aaa (K) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aaa (K) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 1 2805 M 2805 * 1 haematopoietic_and_lymphoid_tissue ATM 1 c.8833_8866del34 p.L2945fs*7 length of cdnaseq = 9171 length of protseq = 3056 8833 8866 34 34 2945 1 2956 1 ctgttaaccattgtagaggtccttctatatgatc Total no. of codons in cdna seq = 3057 ctg cca prev t start t-c end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 9137 ter codon is tga at posn 2951 Protein length after deletion = 2950 Total no. of codons in del cdnaseq = 3046 last codon in array is ga cag (Q) gaa (E) act (T) ctg (L) cca (P) ctc (L) ttt (F) gac (D) tgg (W) cag (Q) gaa (E) act (T) cac (H) tct (S) ttg (L) act (T) original frameshift length = 7 frameshift length = 7 frameshifted sequence: cac (H) tct (S) ttg (L) act (T) gga (G) cca (P) tga (TER) wild type sequence in deletion region: ctg (L) tta (L) acc (T) att (I) gta (V) gag (E) gtc (V) ctt (L) cta (L) tat (Y) gat (D) cca (P) wt frameshift deln region length = 12 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 7 2945 L 2951 * 7 kidney ATM 1 c.451delT p.S151fs*2 length of cdnaseq = 9171 length of protseq = 3056 451 451 T 1 151 1 151 1 t Total no. of codons in cdna seq = 3057 tct tct prev t start t-t end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 9170 ter codon is tga at posn 152 Protein length after deletion = 151 Total no. of codons in del cdnaseq = 3057 last codon in array is ga gac (D) att (I) ctt (L) tct (S) tct (S) gtg (V) aga (R) aaa (K) tac (Y) gac (D) att (I) ctt (L) ctg (L) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctg (L) tga (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 2 151 S 152 * 2 haematopoietic_and_lymphoid_tissue ATM 2 c.1058_1059delGT p.C353fs*5 length of cdnaseq = 9171 length of protseq = 3056 1058 1059 GT 2 353 2 353 3 gt Total no. of codons in cdna seq = 3057 tgt tgt start t-g post c end t-c t-- --- frameshift deletion length of cdnaseq after deletion = 9169 ter codon is taa at posn 357 Protein length after deletion = 356 Total no. of codons in del cdnaseq = 3057 last codon in array is a gca (A) gat (D) atc (I) tgt (C) tgt (C) cac (H) cag (Q) gtt (V) ttt (F) gca (A) gat (D) atc (I) tca (S) cca (P) ggt (G) ttt (F) original frameshift length = 5 frameshift length = 5 frameshifted sequence: tca (S) cca (P) ggt (G) ttt (F) taa (TER) wild type sequence in deletion region: tgt (C) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 5 353 C 357 * 5 kidney BRAF 1 c.1769delT p.V590fs*3 length of cdnaseq = 2301 length of protseq = 766 1769 1769 T 1 590 2 590 2 t Total no. of codons in cdna seq = 767 gta gta start g-t end t-a g-- --a frameshift deletion length of cdnaseq after deletion = 2300 ter codon is tag at posn 592 Protein length after deletion = 591 Total no. of codons in del cdnaseq = 767 last codon in array is ga gac (D) ctc (L) aca (T) gta (V) gta (V) aaa (K) ata (I) ggt (G) gat (D) gac (D) ctc (L) aca (T) gaa (E) aaa (K) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gaa (E) aaa (K) tag (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 3 590 V 592 * 3 breast BRCA1 1 c.3862_3862delG p.E1288fs*19 length of cdnaseq = 5592 length of protseq = 1863 3862 3862 G 1 1288 1 1288 1 g Total no. of codons in cdna seq = 1864 gaa gaa prev g start g-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 5591 ter codon is tga at posn 1306 Protein length after deletion = 1305 Total no. of codons in del cdnaseq = 1864 last codon in array is ga ctt (L) agt (S) gag (E) gaa (E) gaa (E) aca (T) aaa (K) tgt (C) tct (S) ctt (L) agt (S) gag (E) aaa (K) caa (Q) aat (N) gtt (V) original frameshift length = 19 frameshift length = 19 frameshifted sequence: aaa (K) caa (Q) aat (N) gtt (V) ctg (L) cta (L) gct (A) tgt (C) ttt (F) ctt (L) cac (H) agt (S) gca (A) gtg (V) aat (N) tgg (W) aag (K) act (T) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 19 1288 E 1306 * 19 endometrium BRCA1 1 c.3548_3549delAA p.K1183fs*4 length of cdnaseq = 5592 length of protseq = 1863 3548 3549 AA 2 1183 2 1183 3 aa Total no. of codons in cdna seq = 1864 aaa aaa start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 5590 ter codon is tag at posn 1186 Protein length after deletion = 1185 Total no. of codons in del cdnaseq = 1864 last codon in array is a agc (S) gtc (V) cag (Q) aaa (K) aaa (K) gga (G) gag (E) ctt (L) agc (S) agc (S) gtc (V) cag (Q) agg (R) aga (R) gct (A) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: agg (R) aga (R) gct (A) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 4 1183 K 1186 * 4 ovary BRCA1 1 c.2450_2450delG p.G817fs*29 length of cdnaseq = 5592 length of protseq = 1863 2450 2450 G 1 817 2 817 2 g Total no. of codons in cdna seq = 1864 ggt ggt start g-g end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 5591 ter codon is tag at posn 845 Protein length after deletion = 844 Total no. of codons in del cdnaseq = 1864 last codon in array is ga cta (L) att (I) cat (H) ggt (G) ggt (G) tgt (C) tcc (S) aaa (K) gat (D) cta (L) att (I) cat (H) gtt (V) gtt (V) cca (P) aag (K) original frameshift length = 29 frameshift length = 29 frameshifted sequence: gtt (V) gtt (V) cca (P) aag (K) ata (I) ata (I) gaa (E) atg (M) aca (T) cag (Q) aag (K) gct (A) tta (L) agt (S) atc (I) cat (H) tgg (W) gac (D) atg (M) aag (K) tta (L) acc (T) aca (T) gtc (V) ggg (G) aaa (K) caa (Q) gca (A) tag (TER) wild type sequence in deletion region: ggt (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 29 817 G 845 * 29 ovary BRCA1 1 c.3436_3439delTGTT p.C1146fs*8 length of cdnaseq = 5592 length of protseq = 1863 3436 3439 TGTT 4 1146 1 1147 1 tgtt Total no. of codons in cdna seq = 1864 tgt tct prev t start t-t end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 5588 ter codon is tag at posn 1153 Protein length after deletion = 1152 Total no. of codons in del cdnaseq = 1863 last codon in array is ga tct (S) cag (Q) gtt (V) tgt (C) tct (S) gag (E) aca (T) cct (P) gat (D) tct (S) cag (Q) gtt (V) ctg (L) aga (R) cac (H) ctg (L) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ctg (L) aga (R) cac (H) ctg (L) atg (M) acc (T) tgt (C) tag (TER) wild type sequence in deletion region: tgt (C) tct (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 8 1146 C 1153 * 8 ovary BRCA1 1 c.5440_5440delG p.A1814fs*20 length of cdnaseq = 5592 length of protseq = 1863 5440 5440 G 1 1814 1 1814 1 g Total no. of codons in cdna seq = 1864 gcc gcc prev t start t-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 5591 ter codon is tga at posn 1833 Protein length after deletion = 1832 Total no. of codons in del cdnaseq = 1864 last codon in array is ga cag (Q) cca (P) gat (D) gcc (A) gcc (A) tgg (W) aca (T) gag (E) gac (D) cag (Q) cca (P) gat (D) cct (P) gga (G) cag (Q) agg (R) original frameshift length = 20 frameshift length = 20 frameshifted sequence: cct (P) gga (G) cag (Q) agg (R) aca (T) atg (M) gct (A) tcc (S) atg (M) caa (Q) ttg (L) ggc (G) aga (R) tgt (C) gtg (V) agg (R) cac (H) ctg (L) tgg (W) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 20 1814 A 1833 * 20 ovary BRCA1 2 c.2269_2269delG p.V757fs*8 length of cdnaseq = 5592 length of protseq = 1863 2269 2269 G 1 757 1 757 1 g Total no. of codons in cdna seq = 1864 gtt gtt prev g start g-g end g-t --- -tt frameshift deletion length of cdnaseq after deletion = 5591 ter codon is tag at posn 764 Protein length after deletion = 763 Total no. of codons in del cdnaseq = 1864 last codon in array is ga gga (G) gaa (E) agg (R) gtt (V) gtt (V) ttg (L) caa (Q) act (T) gaa (E) gga (G) gaa (E) agg (R) ttt (F) tgc (C) aaa (K) ctg (L) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ttt (F) tgc (C) aaa (K) ctg (L) aaa (K) gat (D) ctg (L) tag (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 8 757 V 764 * 8 breast BRCA2 1 c.2654_2654delA p.D885fs*10 length of cdnaseq = 10257 length of protseq = 3418 2654 2654 A 1 885 2 885 2 a Total no. of codons in cdna seq = 3419 gac gac start g-a end a-c g-- --c frameshift deletion length of cdnaseq after deletion = 10256 ter codon is tag at posn 894 Protein length after deletion = 893 Total no. of codons in del cdnaseq = 3419 last codon in array is aa ctt (L) ttc (F) tca (S) gac (D) gac (D) aat (N) gag (E) aat (N) aat (N) ctt (L) ttc (F) tca (S) gca (A) atg (M) aga (R) ata (I) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gca (A) atg (M) aga (R) ata (I) att (I) ttg (L) tct (S) tcc (S) aag (K) tag (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 10 885 D 894 * 10 endometrium BRCA2 1 c.4092_4093delAT p.I1364fs*3 length of cdnaseq = 10257 length of protseq = 3418 4092 4093 AT 2 1364 3 1365 1 at Total no. of codons in cdna seq = 3419 ata tgt start t-a end t-g at- -gt frameshift deletion length of cdnaseq after deletion = 10255 ter codon is taa at posn 1366 Protein length after deletion = 1365 Total no. of codons in del cdnaseq = 3419 last codon in array is a cag (Q) cac (H) aac (N) ata (I) tgt (C) ctt (L) aaa (K) tta (L) tct (S) cag (Q) cac (H) aac (N) atg (M) tct (S) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: atg (M) tct (S) taa (TER) wild type sequence in deletion region: ata (I) tgt (C) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 3 1364 I 1366 * 3 kidney BRCA2 1 c.4084delC p.H1362fs*12 length of cdnaseq = 10257 length of protseq = 3418 4084 4084 C 1 1362 1 1362 1 c Total no. of codons in cdna seq = 3419 cac cac prev g start g-c end c-a --- -ac frameshift deletion length of cdnaseq after deletion = 10256 ter codon is tga at posn 1373 Protein length after deletion = 1372 Total no. of codons in del cdnaseq = 3419 last codon in array is aa act (T) gat (D) cag (Q) cac (H) cac (H) aac (N) ata (I) tgt (C) ctt (L) act (T) gat (D) cag (Q) aca (T) aca (T) tat (Y) gtc (V) original frameshift length = 12 frameshift length = 12 frameshifted sequence: aca (T) aca (T) tat (Y) gtc (V) tta (L) aat (N) tat (Y) ctg (L) gcc (A) agt (S) tta (L) tga (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 12 1362 H 1373 * 12 large_intestine BRCA2 1 c.3599_3600delGT p.C1200fs*1 length of cdnaseq = 10257 length of protseq = 3418 3599 3600 GT 2 1200 2 1200 3 gt Total no. of codons in cdna seq = 3419 tgt tgt start t-g post a end t-a t-- --- frameshift deletion length of cdnaseq after deletion = 10255 ter codon is taa at posn 1200 Protein length after deletion = 1199 Total no. of codons in del cdnaseq = 3419 last codon in array is a aaa (K) aat (N) gac (D) tgt (C) tgt (C) aac (N) aaa (K) agt (S) gct (A) aaa (K) aat (N) gac (D) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tgt (C) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 1 1200 C 1200 * 1 large_intestine BRCA2 1 c.3860delA p.N1287fs*6 length of cdnaseq = 10257 length of protseq = 3418 3860 3860 A 1 1287 2 1287 2 a Total no. of codons in cdna seq = 3419 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 10256 ter codon is tga at posn 1292 Protein length after deletion = 1291 Total no. of codons in del cdnaseq = 3419 last codon in array is aa agt (S) gaa (E) aaa (K) aat (N) aat (N) aat (N) aaa (K) tgc (C) caa (Q) agt (S) gaa (E) aaa (K) ata (I) ata (I) aat (N) gcc (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ata (I) ata (I) aat (N) gcc (A) aac (N) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 6 1287 N 1292 * 6 large_intestine BRCA2 1 c.5351delA p.N1784fs*7 length of cdnaseq = 10257 length of protseq = 3418 5351 5351 A 1 1784 2 1784 2 a Total no. of codons in cdna seq = 3419 aac aac start a-a end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 10256 ter codon is taa at posn 1790 Protein length after deletion = 1789 Total no. of codons in del cdnaseq = 3419 last codon in array is aa gat (D) caa (Q) aaa (K) aac (N) aac (N) act (T) agt (S) ttt (F) tcc (S) gat (D) caa (Q) aaa (K) aca (T) cta (L) gtt (V) ttt (F) original frameshift length = 7 frameshift length = 7 frameshifted sequence: aca (T) cta (L) gtt (V) ttt (F) cca (P) aag (K) taa (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 7 1784 N 1790 * 7 ovary BRCA2 1 c.1217_1217delC p.Q407fs*23 length of cdnaseq = 10257 length of protseq = 3418 1217 1217 C 1 406 2 406 2 c Total no. of codons in cdna seq = 3419 gcc gcc start g-c end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 10256 ter codon is tag at posn 429 Protein length after deletion = 428 Total no. of codons in del cdnaseq = 3419 last codon in array is aa cta (L) aat (N) gga (G) gcc (A) gcc (A) cag (Q) atg (M) gag (E) aaa (K) cta (L) aat (N) gga (G) gcc (A) aga (R) tgg (W) aga (R) original frameshift length = 24 frameshift length = 24 frameshifted sequence: gcc (A) aga (R) tgg (W) aga (R) aaa (K) tac (Y) ccc (P) tat (Y) tgc (C) ata (I) ttt (F) ctt (L) cat (H) gtg (V) acc (T) aaa (K) ata (I) ttt (F) cag (Q) aaa (K) aag (K) acc (T) tat (Y) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gcc (A) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 23 407 Q 429 * 23 ovary BRCA2 1 c.3638_3638delA p.V1214fs*14 length of cdnaseq = 10257 length of protseq = 3418 3638 3638 A 1 1213 2 1213 2 a Total no. of codons in cdna seq = 3419 gaa gaa start g-a end a-a g-- --a frameshift deletion length of cdnaseq after deletion = 10256 ter codon is tga at posn 1227 Protein length after deletion = 1226 Total no. of codons in del cdnaseq = 3419 last codon in array is aa gat (D) gaa (E) aat (N) gaa (E) gaa (E) gtg (V) ggg (G) ttt (F) agg (R) gat (D) gaa (E) aat (N) gag (E) tgg (W) ggt (G) tta (L) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gag (E) tgg (W) ggt (G) tta (L) ggg (G) gct (A) ttt (F) att (I) ctg (L) ctc (L) atg (M) gca (A) caa (Q) aac (N) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gag (E) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 14 1214 V 1227 * 14 ovary BRCA2 1 c.4058_4065delAAACGGAC p.E1353fs*5 length of cdnaseq = 10257 length of protseq = 3418 4058 4065 AAACGGAC 8 1353 2 1355 3 aaacggac Total no. of codons in cdna seq = 3419 gaa gac start g-a post t end c-t g-- --- frameshift deletion length of cdnaseq after deletion = 10249 ter codon is tga at posn 1357 Protein length after deletion = 1356 Total no. of codons in del cdnaseq = 3417 last codon in array is a cat (H) aaa (K) gat (D) gaa (E) gac (D) ttg (L) cta (L) ttt (F) act (T) cat (H) aaa (K) gat (D) gtt (V) gct (A) att (I) tac (Y) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gtt (V) gct (A) att (I) tac (Y) tga (TER) wild type sequence in deletion region: gaa (E) acg (T) gac (D) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 5 1353 E 1357 * 5 ovary BRCA2 1 c.5555_5555delT p.C1853fs*10 length of cdnaseq = 10257 length of protseq = 3418 5555 5555 T 1 1852 2 1852 2 t Total no. of codons in cdna seq = 3419 gtt gtt start g-t end t-t g-- --t frameshift deletion length of cdnaseq after deletion = 10256 ter codon is tga at posn 1862 Protein length after deletion = 1861 Total no. of codons in del cdnaseq = 3419 last codon in array is aa ggt (G) aaa (K) atc (I) gtt (V) gtt (V) tgt (C) gtt (V) tca (S) cat (H) ggt (G) aaa (K) atc (I) gtt (V) gtg (V) ttt (F) cac (H) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gtt (V) gtg (V) ttt (F) cac (H) atg (M) aaa (K) caa (Q) tta (L) aaa (K) aag (K) tga (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gtt (V) gtt (V) first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 10 1853 C 1862 * 10 pancreas BRCA2 1 c.5946delT p.S1982fs*22 length of cdnaseq = 10257 length of protseq = 3418 5946 5946 T 1 1982 3 1982 3 t Total no. of codons in cdna seq = 3419 agt agt start g-t post g end t-g ag- --- frameshift deletion length of cdnaseq after deletion = 10256 ter codon is tag at posn 2003 Protein length after deletion = 2002 Total no. of codons in del cdnaseq = 3419 last codon in array is aa agc (S) aca (T) gca (A) agt (S) agt (S) gga (G) aaa (K) tct (S) gtc (V) agc (S) aca (T) gca (A) agg (R) gaa (E) aat (N) ctg (L) original frameshift length = 22 frameshift length = 22 frameshifted sequence: agg (R) gaa (E) aat (N) ctg (L) tcc (S) agg (R) tat (Y) cag (Q) atg (M) ctt (L) cat (H) tac (Y) aaa (K) acg (T) caa (Q) gac (D) aag (K) tgt (C) ttt (F) ctg (L) aaa (K) tag (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 22 1982 S 2003 * 22 breast BRCA2 2 c.4550_4559del10 p.K1517fs*23 length of cdnaseq = 10257 length of protseq = 3418 4550 4559 10 10 1517 2 1520 2 aagaacctac Total no. of codons in cdna seq = 3419 aaa act start a-a end c-t a-- --t frameshift deletion length of cdnaseq after deletion = 10247 ter codon is tga at posn 1539 Protein length after deletion = 1538 Total no. of codons in del cdnaseq = 3416 last codon in array is aa gaa (E) aag (K) atc (I) aaa (K) act (T) ctg (L) ttg (L) ggt (G) ttt (F) gaa (E) aag (K) atc (I) atc (I) tgt (C) tgg (W) gtt (V) original frameshift length = 23 frameshift length = 23 frameshifted sequence: atc (I) tgt (C) tgg (W) gtt (V) ttc (F) ata (I) cag (Q) cta (L) gcg (A) gga (G) aaa (K) aag (K) tta (L) aaa (K) ttg (L) caa (Q) agg (R) aat (N) ctt (L) tgg (W) aca (T) aag (K) tga (TER) wild type sequence in deletion region: aaa (K) gaa (E) cct (P) act (T) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 23 1517 K 1539 * 23 stomach BRD3 1 c.71delC p.P24fs*24 length of cdnaseq = 2181 length of protseq = 726 71 71 C 1 24 2 24 2 c Total no. of codons in cdna seq = 727 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 2180 ter codon is tga at posn 47 Protein length after deletion = 46 Total no. of codons in del cdnaseq = 727 last codon in array is ga cca (P) ccc (P) ccc (P) ccg (P) ccg (P) gag (E) gtc (V) tcc (S) aac (N) cca (P) ccc (P) ccc (P) cgg (R) agg (R) tct (S) cca (P) original frameshift length = 24 frameshift length = 24 frameshifted sequence: cgg (R) agg (R) tct (S) cca (P) acc (T) cca (P) gca (A) agc (S) ccg (P) gcc (A) gca (A) aga (R) cca (P) acc (T) agc (S) tgc (C) agt (S) aca (T) tgc (C) aga (R) atg (M) tgg (W) tgg (W) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 24 24 P 47 * 24 parathyroid CDC73 1 c.1230_1230delC p.Q411fs*17 length of cdnaseq = 1596 length of protseq = 531 1230 1230 C 1 410 3 410 3 c Total no. of codons in cdna seq = 532 gac gac start a-c post c end c-c ga- --- frameshift deletion length of cdnaseq after deletion = 1595 ter codon is tag at posn 427 Protein length after deletion = 426 Total no. of codons in del cdnaseq = 532 last codon in array is ga aga (R) aga (R) aaa (K) gac (D) gac (D) cag (Q) atg (M) caa (Q) cca (P) aga (R) aga (R) aaa (K) gac (D) aga (R) tgc (C) aac (N) original frameshift length = 18 frameshift length = 18 frameshifted sequence: gac (D) aga (R) tgc (C) aac (N) cag (Q) ggg (G) gca (A) ctg (L) caa (Q) tta (L) gtg (V) tta (L) cag (Q) tac (Y) ctt (L) ata (I) gag (E) tag (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gac (D) gac (D) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 17 411 Q 427 * 17 parathyroid CDC73 1 c.16_16delA p.S6fs*15 length of cdnaseq = 1596 length of protseq = 531 16 16 A 1 6 1 6 1 a Total no. of codons in cdna seq = 532 agc agc prev t start t-a end a-g --- -gc frameshift deletion length of cdnaseq after deletion = 1595 ter codon is tga at posn 20 Protein length after deletion = 19 Total no. of codons in del cdnaseq = 532 last codon in array is ga gac (D) gtg (V) ctt (L) agc (S) agc (S) gtc (V) ctg (L) cga (R) cag (Q) gac (D) gtg (V) ctt (L) gcg (A) tcc (S) tgc (C) gac (D) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gcg (A) tcc (S) tgc (C) gac (D) agt (S) aca (T) aca (T) tcc (S) aga (R) aga (R) agg (R) aga (R) ttg (L) tgg (W) tga (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 15 6 S 20 * 15 parathyroid CDC73 1 c.39_39delC p.Q14fs*7 length of cdnaseq = 1596 length of protseq = 531 39 39 C 1 13 3 13 3 c Total no. of codons in cdna seq = 532 atc atc start t-c post c end c-c at- --- frameshift deletion length of cdnaseq after deletion = 1595 ter codon is tga at posn 20 Protein length after deletion = 19 Total no. of codons in del cdnaseq = 532 last codon in array is ga cag (Q) tac (Y) aac (N) atc (I) atc (I) cag (Q) aag (K) aag (K) gag (E) cag (Q) tac (Y) aac (N) atc (I) aga (R) aga (R) agg (R) original frameshift length = 8 frameshift length = 8 frameshifted sequence: atc (I) aga (R) aga (R) agg (R) aga (R) ttg (L) tgg (W) tga (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: atc (I) atc (I) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 7 14 Q 20 * 7 parathyroid CDC73 1 c.53_53delT p.I18fs*3 length of cdnaseq = 1596 length of protseq = 531 53 53 T 1 18 2 18 2 t Total no. of codons in cdna seq = 532 att att start a-t end t-t a-- --t frameshift deletion length of cdnaseq after deletion = 1595 ter codon is tga at posn 20 Protein length after deletion = 19 Total no. of codons in del cdnaseq = 532 last codon in array is ga aag (K) aag (K) gag (E) att (I) att (I) gtg (V) gtg (V) aag (K) gga (G) aag (K) aag (K) gag (E) atg (M) tgg (W) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: atg (M) tgg (W) tga (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 3 18 I 20 * 3 parathyroid CDC73 1 c.60_69del10 p.G22fs*1 length of cdnaseq = 1596 length of protseq = 531 60 69 10 10 20 3 23 3 gaagggagac Total no. of codons in cdna seq = 532 gtg gac start t-g post g end c-g gt- --- frameshift deletion length of cdnaseq after deletion = 1586 ter codon is tga at posn 22 Protein length after deletion = 21 Total no. of codons in del cdnaseq = 529 last codon in array is ga gag (E) att (I) gtg (V) gtg (V) gac (D) gaa (E) gtg (V) atc (I) ttc (F) gag (E) att (I) gtg (V) gtg (V) aag (K) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gtg (V) aag (K) tga (TER) wild type sequence in deletion region: gtg (V) aag (K) gga (G) gac (D) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: gtg (V) gtg (V) matching aa in delstart region of wt and deletion mutant: aag (K) aag (K) first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 1 22 G 22 * 1 parathyroid CDC73 1 c.61_64delAAGG p.K21fs*4 length of cdnaseq = 1596 length of protseq = 531 61 64 AAGG 4 21 1 22 1 aagg Total no. of codons in cdna seq = 532 aag gga prev g start g-a end g-g --- -ga frameshift deletion length of cdnaseq after deletion = 1592 ter codon is tga at posn 24 Protein length after deletion = 23 Total no. of codons in del cdnaseq = 531 last codon in array is ga att (I) gtg (V) gtg (V) aag (K) gga (G) gac (D) gaa (E) gtg (V) atc (I) att (I) gtg (V) gtg (V) gag (E) acg (T) aag (K) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gag (E) acg (T) aag (K) tga (TER) wild type sequence in deletion region: aag (K) gga (G) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 4 21 K 24 * 4 parathyroid CDC73 1 c.686_689delGAGT p.R229fs*27 length of cdnaseq = 1596 length of protseq = 531 686 689 GAGT 4 229 2 230 2 gagt Total no. of codons in cdna seq = 532 aga gta start a-g end t-a a-- --a frameshift deletion length of cdnaseq after deletion = 1592 ter codon is taa at posn 255 Protein length after deletion = 254 Total no. of codons in del cdnaseq = 531 last codon in array is ga agc (S) aga (R) gag (E) aga (R) gta (V) tgg (W) agg (R) aca (T) cga (R) agc (S) aga (R) gag (E) aat (N) gga (G) gga (G) cac (H) original frameshift length = 27 frameshift length = 27 frameshifted sequence: aat (N) gga (G) gga (G) cac (H) gaa (E) caa (Q) cta (L) tct (S) tac (Y) aaa (K) gca (A) cag (Q) gaa (E) aga (R) att (I) ttt (F) cca (P) aga (R) aca (T) ttt (F) ttg (L) caa (Q) ttc (F) ttc (F) aat (N) ctg (L) taa (TER) wild type sequence in deletion region: aga (R) gta (V) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 27 229 R 255 * 27 parathyroid CDC73 1 c.70_73delGAAG p.E24fs*1 length of cdnaseq = 1596 length of protseq = 531 70 73 GAAG 4 24 1 25 1 gaag Total no. of codons in cdna seq = 532 gaa gtg prev c start c-g end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 1592 ter codon is tga at posn 24 Protein length after deletion = 23 Total no. of codons in del cdnaseq = 531 last codon in array is ga aag (K) gga (G) gac (D) gaa (E) gtg (V) atc (I) ttc (F) ggg (G) gag (E) aag (K) gga (G) gac (D) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: gaa (E) gtg (V) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 1 24 E 24 * 1 parathyroid CDC73 1 c.732_732delT p.S246fs*11 length of cdnaseq = 1596 length of protseq = 531 732 732 T 1 244 3 244 3 t Total no. of codons in cdna seq = 532 aat aat start a-t post t end t-t aa- --- frameshift deletion length of cdnaseq after deletion = 1595 ter codon is taa at posn 256 Protein length after deletion = 255 Total no. of codons in del cdnaseq = 532 last codon in array is ga aca (T) gga (G) aag (K) aat (N) aat (N) ttt (F) tcc (S) aag (K) aac (N) aca (T) gga (G) aag (K) aat (N) ttt (F) cca (P) aga (R) original frameshift length = 13 frameshift length = 13 frameshifted sequence: aat (N) ttt (F) cca (P) aga (R) aca (T) ttt (F) ttg (L) caa (Q) ttc (F) ttc (F) aat (N) ctg (L) taa (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aat (N) aat (N) matching aa in delstart region of wt and deletion mutant: ttt (F) ttt (F) first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 11 246 S 256 * 11 parathyroid CDC73 1 c.746_746delT p.F250fs*7 length of cdnaseq = 1596 length of protseq = 531 746 746 T 1 249 2 249 2 t Total no. of codons in cdna seq = 532 att att start a-t end t-t a-- --t frameshift deletion length of cdnaseq after deletion = 1595 ter codon is taa at posn 256 Protein length after deletion = 255 Total no. of codons in del cdnaseq = 532 last codon in array is ga tcc (S) aag (K) aac (N) att (I) att (I) ttt (F) gca (A) att (I) ctt (L) tcc (S) aag (K) aac (N) att (I) ttg (L) caa (Q) ttc (F) original frameshift length = 8 frameshift length = 8 frameshifted sequence: att (I) ttg (L) caa (Q) ttc (F) ttc (F) aat (N) ctg (L) taa (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: att (I) att (I) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 7 250 F 256 * 7 parathyroid CDC73 1 c.76_76delA p.I26fs*11 length of cdnaseq = 1596 length of protseq = 531 76 76 A 1 26 1 26 1 a Total no. of codons in cdna seq = 532 atc atc prev g start g-a end a-t --- -tc frameshift deletion length of cdnaseq after deletion = 1595 ter codon is tga at posn 36 Protein length after deletion = 35 Total no. of codons in del cdnaseq = 532 last codon in array is ga gac (D) gaa (E) gtg (V) atc (I) atc (I) ttc (F) ggg (G) gag (E) ttc (F) gac (D) gaa (E) gtg (V) tct (S) tcg (S) ggg (G) agt (S) original frameshift length = 11 frameshift length = 11 frameshifted sequence: tct (S) tcg (S) ggg (G) agt (S) tct (S) cct (P) ggc (G) cca (P) aga (R) atg (M) tga (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 11 26 I 36 * 11 parathyroid CDC73 1 c.82_85delGGGG p.G28fs*8 length of cdnaseq = 1596 length of protseq = 531 82 85 GGGG 4 28 1 29 1 gggg Total no. of codons in cdna seq = 532 ggg gag prev c start c-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 1592 ter codon is tga at posn 35 Protein length after deletion = 34 Total no. of codons in del cdnaseq = 531 last codon in array is ga gtg (V) atc (I) ttc (F) ggg (G) gag (E) ttc (F) tcc (S) tgg (W) ccc (P) gtg (V) atc (I) ttc (F) agt (S) tct (S) cct (P) ggc (G) original frameshift length = 8 frameshift length = 8 frameshifted sequence: agt (S) tct (S) cct (P) ggc (G) cca (P) aga (R) atg (M) tga (TER) wild type sequence in deletion region: ggg (G) gag (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ggg (G) final frameshift length = 8 28 G 35 * 8 parathyroid CDC73 1 c.85_85delG p.E29fs*8 length of cdnaseq = 1596 length of protseq = 531 85 85 G 1 29 1 29 1 g Total no. of codons in cdna seq = 532 gag gag prev g start g-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 1595 ter codon is tga at posn 36 Protein length after deletion = 35 Total no. of codons in del cdnaseq = 532 last codon in array is ga atc (I) ttc (F) ggg (G) gag (E) gag (E) ttc (F) tcc (S) tgg (W) ccc (P) atc (I) ttc (F) ggg (G) agt (S) tct (S) cct (P) ggc (G) original frameshift length = 8 frameshift length = 8 frameshifted sequence: agt (S) tct (S) cct (P) ggc (G) cca (P) aga (R) atg (M) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 8 29 E 36 * 8 parathyroid CDC73 1 c.95_102delGGCCCAAG p.W32fs*1 length of cdnaseq = 1596 length of protseq = 531 95 102 GGCCCAAG 8 32 2 34 3 ggcccaag Total no. of codons in cdna seq = 532 tgg aag start t-g post a end g-a t-- --- frameshift deletion length of cdnaseq after deletion = 1588 ter codon is taa at posn 32 Protein length after deletion = 31 Total no. of codons in del cdnaseq = 530 last codon in array is a gag (E) ttc (F) tcc (S) tgg (W) aag (K) aat (N) gtg (V) aag (K) acc (T) gag (E) ttc (F) tcc (S) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tgg (W) ccc (P) aag (K) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 1 32 W 32 * 1 parathyroid CDC73 2 c.165_165delC p.Y55fs*1 length of cdnaseq = 1596 length of protseq = 531 165 165 C 1 55 3 55 3 c Total no. of codons in cdna seq = 532 tac tac start a-c post a end c-a ta- --- frameshift deletion length of cdnaseq after deletion = 1595 ter codon is taa at posn 55 Protein length after deletion = 54 Total no. of codons in del cdnaseq = 532 last codon in array is ga aga (R) gag (E) tac (Y) tac (Y) tac (Y) aca (T) ttg (L) gat (D) tcc (S) aga (R) gag (E) tac (Y) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 1 55 Y 55 * 1 breast CDH1 1 c.1224_1224delG p.W409fs*8 length of cdnaseq = 2649 length of protseq = 882 1224 1224 G 1 408 3 408 3 g Total no. of codons in cdna seq = 883 gcg gcg start c-g post t end g-t gc- --- frameshift deletion length of cdnaseq after deletion = 2648 ter codon is tga at posn 416 Protein length after deletion = 415 Total no. of codons in del cdnaseq = 883 last codon in array is ag aat (N) acc (T) cca (P) gcg (A) gcg (A) tgg (W) gag (E) gct (A) gta (V) aat (N) acc (T) cca (P) gct (A) ggg (G) agg (R) ctg (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gct (A) ggg (G) agg (R) ctg (L) tat (Y) aca (T) cca (P) tat (Y) tga (TER) wild type sequence in deletion region: gcg (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcg (A) gct (A) first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 8 409 W 416 * 8 breast CDH1 1 c.1269_1269delT p.F423fs*8 length of cdnaseq = 2649 length of protseq = 882 1269 1269 T 1 423 3 423 3 t Total no. of codons in cdna seq = 883 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 2648 ter codon is tga at posn 430 Protein length after deletion = 429 Total no. of codons in del cdnaseq = 883 last codon in array is ag ggt (G) gga (G) caa (Q) ttt (F) ttt (F) gtc (V) gtc (V) acc (T) aca (T) ggt (G) gga (G) caa (Q) ttg (L) tcg (S) tca (S) cca (P) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ttg (L) tcg (S) tca (S) cca (P) caa (Q) atc (I) cag (Q) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 8 423 F 430 * 8 breast CDH1 1 c.1309_1310delAA p.K437fs*8 length of cdnaseq = 2649 length of protseq = 882 1309 1310 AA 2 437 1 437 2 aa Total no. of codons in cdna seq = 883 aaa aaa prev g start g-a end a-a --- --a frameshift deletion length of cdnaseq after deletion = 2647 ter codon is tga at posn 444 Protein length after deletion = 443 Total no. of codons in del cdnaseq = 883 last codon in array is g ggc (G) att (I) ttg (L) aaa (K) aaa (K) aca (T) gca (A) aag (K) ggc (G) ggc (G) att (I) ttg (L) aac (N) agc (S) aaa (K) ggg (G) original frameshift length = 8 frameshift length = 8 frameshifted sequence: aac (N) agc (S) aaa (K) ggg (G) ctt (L) gga (G) ttt (F) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 8 437 K 444 * 8 breast CDH1 1 c.1323_1333del11 p.L442fs*18 length of cdnaseq = 2649 length of protseq = 882 1323 1333 11 11 441 3 445 1 cttggattttg Total no. of codons in cdna seq = 883 ggc gag start g-c end g-a gg- -ag frameshift deletion length of cdnaseq after deletion = 2638 ter codon is tga at posn 459 Protein length after deletion = 458 Total no. of codons in del cdnaseq = 880 last codon in array is g aca (T) gca (A) aag (K) ggc (G) gag (E) gcc (A) aag (K) cag (Q) cag (Q) aca (T) gca (A) aag (K) gga (G) ggc (G) caa (Q) gca (A) original frameshift length = 19 frameshift length = 19 frameshifted sequence: gga (G) ggc (G) caa (Q) gca (A) gca (A) gta (V) cat (H) tct (S) aca (T) cgt (R) agc (S) agt (S) gac (D) gaa (E) tgt (C) ggt (G) acc (T) ttt (F) tga (TER) wild type sequence in deletion region: ggc (G) ttg (L) gat (D) ttt (F) gag (E) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: ggc (G) gga (G) first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 18 442 L 459 * 18 breast CDH1 1 c.1519_1525delTCCTACA p.S507fs*13 length of cdnaseq = 2649 length of protseq = 882 1519 1525 TCCTACA 7 507 1 509 1 tcctaca Total no. of codons in cdna seq = 883 tcc act prev a start a-t end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 2642 ter codon is taa at posn 519 Protein length after deletion = 518 Total no. of codons in del cdnaseq = 881 last codon in array is ag gaa (E) atc (I) aca (T) tcc (S) act (T) gcc (A) cag (Q) gag (E) cca (P) gaa (E) atc (I) aca (T) ctg (L) ccc (P) agg (R) agc (S) original frameshift length = 13 frameshift length = 13 frameshifted sequence: ctg (L) ccc (P) agg (R) agc (S) cag (Q) aca (T) cat (H) tta (L) tgg (W) aac (N) aga (R) aaa (K) taa (TER) wild type sequence in deletion region: tcc (S) tac (Y) act (T) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 13 507 S 519 * 13 breast CDH1 1 c.1529_1533delCCCAG p.A510fs*25 length of cdnaseq = 2649 length of protseq = 882 1529 1533 CCCAG 5 510 2 511 3 cccag Total no. of codons in cdna seq = 883 gcc cag start g-c post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 2644 ter codon is taa at posn 534 Protein length after deletion = 533 Total no. of codons in del cdnaseq = 882 last codon in array is g tcc (S) tac (Y) act (T) gcc (A) cag (Q) gag (E) cca (P) gac (D) aca (T) tcc (S) tac (Y) act (T) gga (G) gcc (A) aga (R) cac (H) original frameshift length = 25 frameshift length = 25 frameshifted sequence: gga (G) gcc (A) aga (R) cac (H) att (I) tat (Y) gga (G) aca (T) gaa (E) aat (N) aac (N) ata (I) tcg (S) gat (D) ttg (L) gag (E) aga (R) cac (H) tgc (C) caa (Q) ctg (L) gct (A) gga (G) gat (D) taa (TER) wild type sequence in deletion region: gcc (A) cag (Q) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 25 510 A 534 * 25 breast CDH1 1 c.1548_1560del13 p.F516fs*2 length of cdnaseq = 2649 length of protseq = 882 1548 1560 13 13 516 3 520 3 tatggaacagaaa Total no. of codons in cdna seq = 883 ttt aaa start t-t post a end a-a tt- --- frameshift deletion length of cdnaseq after deletion = 2636 ter codon is taa at posn 517 Protein length after deletion = 516 Total no. of codons in del cdnaseq = 879 last codon in array is ag cca (P) gac (D) aca (T) ttt (F) aaa (K) ata (I) aca (T) tat (Y) cgg (R) cca (P) gac (D) aca (T) tta (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: tta (L) taa (TER) wild type sequence in deletion region: ttt (F) atg (M) gaa (E) cag (Q) aaa (K) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 2 516 F 517 * 2 breast CDH1 1 c.1627_1627delT p.S543fs*14 length of cdnaseq = 2649 length of protseq = 882 1627 1627 T 1 543 1 543 1 t Total no. of codons in cdna seq = 883 tcc tcc prev t start t-t end t-c --- -cc frameshift deletion length of cdnaseq after deletion = 2648 ter codon is tga at posn 556 Protein length after deletion = 555 Total no. of codons in del cdnaseq = 883 last codon in array is ag ggt (G) gcc (A) att (I) tcc (S) tcc (S) act (T) cgg (R) gct (A) gag (E) ggt (G) gcc (A) att (I) cca (P) ctc (L) ggg (G) ctg (L) original frameshift length = 14 frameshift length = 14 frameshifted sequence: cca (P) ctc (L) ggg (G) ctg (L) agc (S) tgg (W) aca (T) ggg (G) agg (R) att (I) ttg (L) agc (S) acg (T) tga (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 14 543 S 556 * 14 breast CDH1 1 c.164_387del224 p.V55fs*38 length of cdnaseq = 2649 length of protseq = 882 164 387 224 224 55 2 129 3 tgaattttgaagattgcaccggtcgacaaaggacagcctatttttccctcgacacccgattcaaagtgggcacagatggtgtgattacagtcaaaaggcctctacggtttcataacccacagatccatttcttggtctacgcctgggactccacctacagaaagttttccaccaaagtcacgctgaatacagtggggcaccaccaccgccccccgccccatcag Total no. of codons in cdna seq = 883 gtg cag start g-t post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 2425 ter codon is tga at posn 92 Protein length after deletion = 91 Total no. of codons in del cdnaseq = 809 last codon in array is g ctg (L) ggc (G) aga (R) gtg (V) cag (Q) gcc (A) tcc (S) gtt (V) tct (S) ctg (L) ggc (G) aga (R) ggc (G) ctc (L) cgt (R) ttc (F) original frameshift length = 38 frameshift length = 38 frameshifted sequence: ggc (G) ctc (L) cgt (R) ttc (F) tgg (W) aat (N) cca (P) agc (S) aga (R) att (I) gct (A) cac (H) att (I) tcc (S) caa (Q) ctc (L) ctc (L) tcc (S) tgg (W) cct (P) cag (Q) aag (K) aca (T) gaa (E) gag (E) aga (R) ctg (L) ggt (G) tat (Y) tcc (S) tcc (S) cat (H) cag (Q) ctg (L) ccc (P) aga (R) aaa (K) tga (TER) wild type sequence in deletion region: gtg (V) aat (N) ttt (F) gaa (E) gat (D) tgc (C) acc (T) ggt (G) cga (R) caa (Q) agg (R) aca (T) gcc (A) tat (Y) ttt (F) tcc (S) ctc (L) gac (D) acc (T) cga (R) ttc (F) aaa (K) gtg (V) ggc (G) aca (T) gat (D) ggt (G) gtg (V) att (I) aca (T) gtc (V) aaa (K) agg (R) cct (P) cta (L) cgg (R) ttt (F) cat (H) aac (N) cca (P) cag (Q) atc (I) cat (H) ttc (F) ttg (L) gtc (V) tac (Y) gcc (A) tgg (W) gac (D) tcc (S) acc (T) tac (Y) aga (R) aag (K) ttt (F) tcc (S) acc (T) aaa (K) gtc (V) acg (T) ctg (L) aat (N) aca (T) gtg (V) ggg (G) cac (H) cac (H) cac (H) cgc (R) ccc (P) ccg (P) ccc (P) cat (H) cag (Q) wt frameshift deln region length = 75 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 38 55 V 92 * 38 breast CDH1 1 c.1836_1836delA p.N613fs*18 length of cdnaseq = 2649 length of protseq = 882 1836 1836 A 1 612 3 612 3 a Total no. of codons in cdna seq = 883 ata ata start t-a post a end a-a at- --- frameshift deletion length of cdnaseq after deletion = 2648 ter codon is taa at posn 630 Protein length after deletion = 629 Total no. of codons in del cdnaseq = 883 last codon in array is ag cct (P) cag (Q) gtc (V) ata (I) ata (I) aac (N) atc (I) att (I) gat (D) cct (P) cag (Q) gtc (V) ata (I) aca (T) tca (S) ttg (L) original frameshift length = 19 frameshift length = 19 frameshifted sequence: ata (I) aca (T) tca (S) ttg (L) atg (M) cag (Q) acc (T) ttc (F) ctc (L) cca (P) ata (I) cat (H) ctc (L) cct (P) tca (S) cag (Q) cag (Q) aac (N) taa (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ata (I) ata (I) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 18 613 N 630 * 18 breast CDH1 1 c.1844_1844delT p.I615fs*16 length of cdnaseq = 2649 length of protseq = 882 1844 1844 T 1 615 2 615 2 t Total no. of codons in cdna seq = 883 att att start a-t end t-t a-- --t frameshift deletion length of cdnaseq after deletion = 2648 ter codon is taa at posn 630 Protein length after deletion = 629 Total no. of codons in del cdnaseq = 883 last codon in array is ag ata (I) aac (N) atc (I) att (I) att (I) gat (D) gca (A) gac (D) ctt (L) ata (I) aac (N) atc (I) atg (M) atg (M) cag (Q) acc (T) original frameshift length = 16 frameshift length = 16 frameshifted sequence: atg (M) atg (M) cag (Q) acc (T) ttc (F) ctc (L) cca (P) ata (I) cat (H) ctc (L) cct (P) tca (S) cag (Q) cag (Q) aac (N) taa (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 16 615 I 630 * 16 breast CDH1 1 c.1861_1861delC p.N622fs*9 length of cdnaseq = 2649 length of protseq = 882 1861 1861 C 1 621 1 621 1 c Total no. of codons in cdna seq = 883 ccc ccc prev t start t-c end c-c --- -cc frameshift deletion length of cdnaseq after deletion = 2648 ter codon is taa at posn 630 Protein length after deletion = 629 Total no. of codons in del cdnaseq = 883 last codon in array is ag gac (D) ctt (L) cct (P) ccc (P) ccc (P) aat (N) aca (T) tct (S) ccc (P) gac (D) ctt (L) cct (P) cca (P) ata (I) cat (H) ctc (L) original frameshift length = 10 frameshift length = 10 frameshifted sequence: cca (P) ata (I) cat (H) ctc (L) cct (P) tca (S) cag (Q) cag (Q) aac (N) taa (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 9 622 N 630 * 9 breast CDH1 1 c.1881_1888delAGCAGAAC p.A628fs*32 length of cdnaseq = 2649 length of protseq = 882 1881 1888 AGCAGAAC 8 627 3 630 1 agcagaac Total no. of codons in cdna seq = 883 aca cta start c-a end c-t ac- -ta frameshift deletion length of cdnaseq after deletion = 2641 ter codon is tga at posn 659 Protein length after deletion = 658 Total no. of codons in del cdnaseq = 881 last codon in array is g tct (S) ccc (P) ttc (F) aca (T) cta (L) aca (T) cac (H) ggg (G) gcg (A) tct (S) ccc (P) ttc (F) act (T) aac (N) aca (T) cgg (R) original frameshift length = 33 frameshift length = 33 frameshifted sequence: act (T) aac (N) aca (T) cgg (R) ggc (G) gag (E) tgc (C) caa (Q) ctg (L) gac (D) cat (H) tca (S) gta (V) caa (Q) cga (R) ccc (P) aac (N) cca (P) aga (R) atc (I) tat (Y) cat (H) ttt (F) gaa (E) gcc (A) aaa (K) gat (D) ggc (G) ctt (L) aga (R) ggt (G) ggg (G) tga (TER) wild type sequence in deletion region: aca (T) gca (A) gaa (E) cta (L) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: aca (T) act (T) first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 32 628 A 659 * 32 breast CDH1 1 c.1948_1964del17 p.I650fs*7 length of cdnaseq = 2649 length of protseq = 882 1948 1964 17 17 650 1 655 2 atcattttgaagccaaa Total no. of codons in cdna seq = 883 atc aag prev t start t-a end a-g --- --g frameshift deletion length of cdnaseq after deletion = 2632 ter codon is tga at posn 656 Protein length after deletion = 655 Total no. of codons in del cdnaseq = 878 last codon in array is g caa (Q) gaa (E) tct (S) atc (I) aag (K) atg (M) gcc (A) tta (L) gag (E) caa (Q) gaa (E) tct (S) gat (D) ggc (G) ctt (L) aga (R) original frameshift length = 7 frameshift length = 7 frameshifted sequence: gat (D) ggc (G) ctt (L) aga (R) ggt (G) ggg (G) tga (TER) wild type sequence in deletion region: atc (I) att (I) ttg (L) aag (K) cca (P) aag (K) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 7 650 I 656 * 7 breast CDH1 1 c.1971_1971delC p.L658fs*1 length of cdnaseq = 2649 length of protseq = 882 1971 1971 C 1 657 3 657 3 c Total no. of codons in cdna seq = 883 gcc gcc start c-c post t end c-t gc- --- frameshift deletion length of cdnaseq after deletion = 2648 ter codon is tag at posn 658 Protein length after deletion = 657 Total no. of codons in del cdnaseq = 883 last codon in array is ag cca (P) aag (K) atg (M) gcc (A) gcc (A) tta (L) gag (E) gtg (V) ggt (G) cca (P) aag (K) atg (M) gct (A) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gct (A) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gct (A) first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 1 658 L 658 * 1 breast CDH1 1 c.2029_2029delC p.Q677fs*2 length of cdnaseq = 2649 length of protseq = 882 2029 2029 C 1 677 1 677 1 c Total no. of codons in cdna seq = 883 caa caa prev c start c-c end c-a --- -aa frameshift deletion length of cdnaseq after deletion = 2648 ter codon is tga at posn 678 Protein length after deletion = 677 Total no. of codons in del cdnaseq = 883 last codon in array is ag aat (N) aaa (K) gac (D) caa (Q) caa (Q) gtg (V) acc (T) acc (T) tta (L) aat (N) aaa (K) gac (D) aag (K) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aag (K) tga (TER) wild type sequence in deletion region: caa (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 2 677 Q 678 * 2 breast CDH1 1 c.2044_2062del19 p.E682fs*34 length of cdnaseq = 2649 length of protseq = 882 2044 2062 19 19 682 1 688 1 gaggtcagcgtgtgtgact Total no. of codons in cdna seq = 883 gag tgt prev a start a-g end t-g --- -gt frameshift deletion length of cdnaseq after deletion = 2630 ter codon is taa at posn 715 Protein length after deletion = 714 Total no. of codons in del cdnaseq = 877 last codon in array is ag acc (T) acc (T) tta (L) gag (E) tgt (C) gaa (E) ggg (G) gcc (A) gcc (A) acc (T) acc (T) tta (L) gtg (V) aag (K) ggg (G) ccg (P) original frameshift length = 34 frameshift length = 34 frameshifted sequence: gtg (V) aag (K) ggg (G) ccg (P) ccg (P) gcg (A) tct (S) gta (V) gga (G) agg (R) cac (H) agc (S) ctg (L) tcg (S) aag (K) cag (Q) gat (D) tgc (C) aaa (K) ttc (F) ctg (L) cca (P) ttc (F) tgg (W) gga (G) ttc (F) ttg (L) gag (E) gaa (E) ttc (F) ttg (L) ctt (L) tgc (C) taa (TER) wild type sequence in deletion region: gag (E) gtc (V) agc (S) gtg (V) tgt (C) gac (D) tgt (C) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 34 682 E 715 * 34 breast CDH1 1 c.2047_2048delGT p.V683fs*4 length of cdnaseq = 2649 length of protseq = 882 2047 2048 GT 2 683 1 683 2 gt Total no. of codons in cdna seq = 883 gtc gtc prev g start g-g end t-c --- --c frameshift deletion length of cdnaseq after deletion = 2647 ter codon is tga at posn 686 Protein length after deletion = 685 Total no. of codons in del cdnaseq = 883 last codon in array is g acc (T) tta (L) gag (E) gtc (V) gtc (V) agc (S) gtg (V) tgt (C) gac (D) acc (T) tta (L) gag (E) cag (Q) cgt (R) gtg (V) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: cag (Q) cgt (R) gtg (V) tga (TER) wild type sequence in deletion region: gtc (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 4 683 V 686 * 4 breast CDH1 1 c.22_43del22 p.L8fs*41 length of cdnaseq = 2649 length of protseq = 882 22 43 22 22 8 1 15 1 ctctcggcgctgctgctgctgc Total no. of codons in cdna seq = 883 ctc ctg prev c start c-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 2627 ter codon is tga at posn 48 Protein length after deletion = 47 Total no. of codons in del cdnaseq = 876 last codon in array is ag agc (S) cgc (R) agc (S) ctc (L) ctg (L) cag (Q) gtc (V) tcc (S) tct (S) agc (S) cgc (R) agc (S) tgc (C) agg (R) tct (S) cct (P) original frameshift length = 41 frameshift length = 41 frameshifted sequence: tgc (C) agg (R) tct (S) cct (P) ctt (L) ggc (G) tct (S) gcc (A) agg (R) agc (S) cgg (R) agc (S) cct (P) gcc (A) acc (T) ctg (L) gct (A) ttg (L) acg (T) ccg (P) aga (R) gct (A) aca (T) cgt (R) tca (S) cgg (R) tgc (C) ccc (P) ggc (G) gcc (A) acc (T) tgg (W) aga (R) gag (E) gcc (A) gcg (A) tcc (S) tgg (W) gca (A) gag (E) tga (TER) wild type sequence in deletion region: ctc (L) tcg (S) gcg (A) ctg (L) ctg (L) ctg (L) ctg (L) ctg (L) wt frameshift deln region length = 8 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 8 L 48 * 41 breast CDH1 1 c.2410_2410delC p.D805fs*11 length of cdnaseq = 2649 length of protseq = 882 2410 2410 C 1 804 1 804 1 c Total no. of codons in cdna seq = 883 ccc ccc prev t start t-c end c-c --- -cc frameshift deletion length of cdnaseq after deletion = 2648 ter codon is tga at posn 815 Protein length after deletion = 814 Total no. of codons in del cdnaseq = 883 last codon in array is ag cct (P) gcc (A) aat (N) ccc (P) ccc (P) gat (D) gaa (E) att (I) gga (G) cct (P) gcc (A) aat (N) ccg (P) atg (M) aaa (K) ttg (L) original frameshift length = 12 frameshift length = 12 frameshifted sequence: ccg (P) atg (M) aaa (K) ttg (L) gaa (E) att (I) tta (L) ttg (L) atg (M) aaa (K) atc (I) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 11 805 D 815 * 11 breast CDH1 1 c.372_372delC p.P126fs*89 length of cdnaseq = 2649 length of protseq = 882 372 372 C 1 124 3 124 3 c Total no. of codons in cdna seq = 883 cgc cgc start g-c post c end c-c cg- --- frameshift deletion length of cdnaseq after deletion = 2648 ter codon is tga at posn 214 Protein length after deletion = 213 Total no. of codons in del cdnaseq = 883 last codon in array is ag cac (H) cac (H) cac (H) cgc (R) cgc (R) ccc (P) ccg (P) ccc (P) cat (H) cac (H) cac (H) cac (H) cgc (R) ccc (P) cgc (R) ccc (P) original frameshift length = 91 frameshift length = 91 frameshifted sequence: cgc (R) ccc (P) cgc (R) ccc (P) atc (I) agg (R) cct (P) ccg (P) ttt (F) ctg (L) gaa (E) tcc (S) aag (K) cag (Q) aat (N) tgc (C) tca (S) cat (H) ttc (F) cca (P) act (T) cct (P) ctc (L) ctg (L) gcc (A) tca (S) gaa (E) gac (D) aga (R) aga (R) gag (E) act (T) ggg (G) tta (L) ttc (F) ctc (L) cca (P) tca (S) gct (A) gcc (A) cag (Q) aaa (K) atg (M) aaa (K) aag (K) gcc (A) cat (H) ttc (F) cta (L) aaa (K) acc (T) tgg (W) ttc (F) aga (R) tca (S) aat (N) cca (P) aca (T) aag (K) aca (T) aag (K) aag (K) gca (A) agg (R) ttt (F) tct (S) aca (T) gca (A) tca (S) ctg (L) gcc (A) aag (K) gag (E) ctg (L) aca (T) cac (H) ccc (P) ctg (L) ttg (L) gtg (V) tct (S) tta (L) tta (L) ttg (L) aaa (K) gag (E) aaa (K) cag (Q) gat (D) ggc (G) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgc (R) cgc (R) matching aa in delstart region of wt and deletion mutant: ccc (P) ccc (P) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 89 126 P 214 * 89 breast CDH1 1 c.459_459delG p.R154fs*61 length of cdnaseq = 2649 length of protseq = 882 459 459 G 1 153 3 153 3 g Total no. of codons in cdna seq = 883 aag aag start a-g post a end g-a aa- --- frameshift deletion length of cdnaseq after deletion = 2648 ter codon is tga at posn 214 Protein length after deletion = 213 Total no. of codons in del cdnaseq = 883 last codon in array is ag aga (R) aga (R) cag (Q) aag (K) aag (K) aga (R) gac (D) tgg (W) gtt (V) aga (R) aga (R) cag (Q) aaa (K) gag (E) act (T) ggg (G) original frameshift length = 62 frameshift length = 62 frameshifted sequence: aaa (K) gag (E) act (T) ggg (G) tta (L) ttc (F) ctc (L) cca (P) tca (S) gct (A) gcc (A) cag (Q) aaa (K) atg (M) aaa (K) aag (K) gcc (A) cat (H) ttc (F) cta (L) aaa (K) acc (T) tgg (W) ttc (F) aga (R) tca (S) aat (N) cca (P) aca (T) aag (K) aca (T) aag (K) aag (K) gca (A) agg (R) ttt (F) tct (S) aca (T) gca (A) tca (S) ctg (L) gcc (A) aag (K) gag (E) ctg (L) aca (T) cac (H) ccc (P) ctg (L) ttg (L) gtg (V) tct (S) tta (L) tta (L) ttg (L) aaa (K) gag (E) aaa (K) cag (Q) gat (D) ggc (G) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aag (K) aaa (K) first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 61 154 R 214 * 61 breast CDH1 1 c.60_79del20 p.W20fs*7 length of cdnaseq = 2649 length of protseq = 882 60 79 20 20 20 3 27 1 gctctgccaggagccggagc Total no. of codons in cdna seq = 883 tgg ccc start g-g end c-c tg- -cc frameshift deletion length of cdnaseq after deletion = 2629 ter codon is tga at posn 26 Protein length after deletion = 25 Total no. of codons in del cdnaseq = 877 last codon in array is g gtc (V) tcc (S) tct (S) tgg (W) ccc (P) tgc (C) cac (H) cct (P) ggc (G) gtc (V) tcc (S) tct (S) tgc (C) ctg (L) cca (P) ccc (P) original frameshift length = 7 frameshift length = 7 frameshifted sequence: tgc (C) ctg (L) cca (P) ccc (P) tgg (W) ctt (L) tga (TER) wild type sequence in deletion region: tgg (W) ctc (L) tgc (C) cag (Q) gag (E) ccg (P) gag (E) ccc (P) wt frameshift deln region length = 8 first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 7 20 W 26 * 7 breast CDH1 1 c.761_777del17 p.D254fs*9 length of cdnaseq = 2649 length of protseq = 882 761 777 17 17 254 2 259 3 atcagaatgacaacaag Total no. of codons in cdna seq = 883 gat aag start g-a post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 2632 ter codon is taa at posn 262 Protein length after deletion = 261 Total no. of codons in del cdnaseq = 878 last codon in array is g acg (T) gta (V) acc (T) gat (D) aag (K) ccc (P) gaa (E) ttc (F) acc (T) acg (T) gta (V) acc (T) gcc (A) cga (R) att (I) cac (H) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gcc (A) cga (R) att (I) cac (H) cca (P) gga (G) ggt (G) ctt (L) taa (TER) wild type sequence in deletion region: gat (D) cag (Q) aat (N) gac (D) aac (N) aag (K) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 9 254 D 262 * 9 breast CDH1 1 c.846_867del22 p.E283fs*4 length of cdnaseq = 2649 length of protseq = 882 846 867 22 22 282 3 289 3 ggaggtcacagccacagacgcg Total no. of codons in cdna seq = 883 atg gcg start t-g post g end g-g at- --- frameshift deletion length of cdnaseq after deletion = 2627 ter codon is tga at posn 286 Protein length after deletion = 285 Total no. of codons in del cdnaseq = 876 last codon in array is ag acc (T) tct (S) gtg (V) atg (M) gcg (A) gac (D) gat (D) gat (D) gtg (V) acc (T) tct (S) gtg (V) atg (M) acg (T) atg (M) atg (M) original frameshift length = 5 frameshift length = 5 frameshifted sequence: atg (M) acg (T) atg (M) atg (M) tga (TER) wild type sequence in deletion region: atg (M) gag (E) gtc (V) aca (T) gcc (A) aca (T) gac (D) gcg (A) wt frameshift deln region length = 8 matching aa in delstart region of wt and deletion mutant: atg (M) atg (M) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 4 283 E 286 * 4 breast CDH1 1 c.864_865delCG p.A289fs*3 length of cdnaseq = 2649 length of protseq = 882 864 865 CG 2 288 3 289 1 cg Total no. of codons in cdna seq = 883 gac gcg start a-c end g-c ga- -cg frameshift deletion length of cdnaseq after deletion = 2647 ter codon is tga at posn 291 Protein length after deletion = 290 Total no. of codons in del cdnaseq = 883 last codon in array is g aca (T) gcc (A) aca (T) gac (D) gcg (A) gac (D) gat (D) gat (D) gtg (V) aca (T) gcc (A) aca (T) gac (D) gga (G) cga (R) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gac (D) gga (G) cga (R) tga (TER) wild type sequence in deletion region: gac (D) gcg (A) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gac (D) gac (D) first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 3 289 A 291 * 3 large_intestine CDH1 1 c.602_602delC p.P201fs*14 length of cdnaseq = 2649 length of protseq = 882 602 602 C 1 201 2 201 2 c Total no. of codons in cdna seq = 883 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 2648 ter codon is tga at posn 214 Protein length after deletion = 213 Total no. of codons in del cdnaseq = 883 last codon in array is ag gac (D) aca (T) ccc (P) cct (P) cct (P) gtt (V) ggt (G) gtc (V) ttt (F) gac (D) aca (T) ccc (P) ctg (L) ttg (L) gtg (V) tct (S) original frameshift length = 14 frameshift length = 14 frameshifted sequence: ctg (L) ttg (L) gtg (V) tct (S) tta (L) tta (L) ttg (L) aaa (K) gag (E) aaa (K) cag (Q) gat (D) ggc (G) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 14 201 P 214 * 14 stomach CDH1 1 c.1008_1008delG p.S337fs*19 length of cdnaseq = 2649 length of protseq = 882 1008 1008 G 1 336 3 336 3 g Total no. of codons in cdna seq = 883 gag gag start a-g post a end g-a ga- --- frameshift deletion length of cdnaseq after deletion = 2648 ter codon is taa at posn 355 Protein length after deletion = 354 Total no. of codons in del cdnaseq = 883 last codon in array is ag ctg (L) gac (D) cga (R) gag (E) gag (E) agt (S) ttc (F) cct (P) acg (T) ctg (L) gac (D) cga (R) gaa (E) gtt (V) tcc (S) cta (L) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gaa (E) gtt (V) tcc (S) cta (L) cgt (R) ata (I) ccc (P) tgg (W) tgg (W) ttc (F) aag (K) ctg (L) ctg (L) acc (T) ttc (F) aag (K) gtg (V) agg (R) ggt (G) taa (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gag (E) gaa (E) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 19 337 S 355 * 19 stomach CDH1 1 c.522_531del10 p.N174fs*38 length of cdnaseq = 2649 length of protseq = 882 522 531 10 10 174 3 177 3 cctggttcag Total no. of codons in cdna seq = 883 aac cag start a-c post a end g-a aa- --- frameshift deletion length of cdnaseq after deletion = 2639 ter codon is tga at posn 211 Protein length after deletion = 210 Total no. of codons in del cdnaseq = 880 last codon in array is ag ttt (F) cct (P) aaa (K) aac (N) cag (Q) atc (I) aaa (K) tcc (S) aac (N) ttt (F) cct (P) aaa (K) aaa (K) tca (S) aat (N) cca (P) original frameshift length = 38 frameshift length = 38 frameshifted sequence: aaa (K) tca (S) aat (N) cca (P) aca (T) aag (K) aca (T) aag (K) aag (K) gca (A) agg (R) ttt (F) tct (S) aca (T) gca (A) tca (S) ctg (L) gcc (A) aag (K) gag (E) ctg (L) aca (T) cac (H) ccc (P) ctg (L) ttg (L) gtg (V) tct (S) tta (L) tta (L) ttg (L) aaa (K) gag (E) aaa (K) cag (Q) gat (D) ggc (G) tga (TER) wild type sequence in deletion region: aac (N) ctg (L) gtt (V) cag (Q) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 38 174 N 211 * 38 breast CDH1 2 c.49_163del115 p.V17fs*1 length of cdnaseq = 2649 length of protseq = 882 49 163 115 115 17 1 55 1 gtctcctcttggctctgccaggagccggagccctgccaccctggctttgacgccgagagctacacgttcacggtgccccggcgccacctggagagaggccgcgtcctgggcagag Total no. of codons in cdna seq = 883 gtc gtg prev g start g-g end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 2534 ter codon is tga at posn 17 Protein length after deletion = 16 Total no. of codons in del cdnaseq = 845 last codon in array is ag ctg (L) ctg (L) cag (Q) gtc (V) gtg (V) aat (N) ttt (F) gaa (E) gat (D) ctg (L) ctg (L) cag (Q) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: gtc (V) tcc (S) tct (S) tgg (W) ctc (L) tgc (C) cag (Q) gag (E) ccg (P) gag (E) ccc (P) tgc (C) cac (H) cct (P) ggc (G) ttt (F) gac (D) gcc (A) gag (E) agc (S) tac (Y) acg (T) ttc (F) acg (T) gtg (V) ccc (P) cgg (R) cgc (R) cac (H) ctg (L) gag (E) aga (R) ggc (G) cgc (R) gtc (V) ctg (L) ggc (G) aga (R) gtg (V) wt frameshift deln region length = 39 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 1 17 V 17 * 1 breast CDH1 2 c.866_867delCG p.A289fs*3 length of cdnaseq = 2649 length of protseq = 882 866 867 CG 2 289 2 289 3 cg Total no. of codons in cdna seq = 883 gcg gcg start g-c post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 2647 ter codon is tga at posn 291 Protein length after deletion = 290 Total no. of codons in del cdnaseq = 883 last codon in array is g gcc (A) aca (T) gac (D) gcg (A) gcg (A) gac (D) gat (D) gat (D) gtg (V) gcc (A) aca (T) gac (D) gga (G) cga (R) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gga (G) cga (R) tga (TER) wild type sequence in deletion region: gcg (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 3 289 A 291 * 3 oesophagus CDH1 2 c.357_357delG p.H121fs*94 length of cdnaseq = 2649 length of protseq = 882 357 357 G 1 119 3 119 3 g Total no. of codons in cdna seq = 883 gtg gtg start t-g post g end g-g gt- --- frameshift deletion length of cdnaseq after deletion = 2648 ter codon is tga at posn 214 Protein length after deletion = 213 Total no. of codons in del cdnaseq = 883 last codon in array is ag ctg (L) aat (N) aca (T) gtg (V) gtg (V) ggg (G) cac (H) cac (H) cac (H) ctg (L) aat (N) aca (T) gtg (V) ggc (G) acc (T) acc (T) original frameshift length = 96 frameshift length = 96 frameshifted sequence: gtg (V) ggc (G) acc (T) acc (T) acc (T) gcc (A) ccc (P) cgc (R) ccc (P) atc (I) agg (R) cct (P) ccg (P) ttt (F) ctg (L) gaa (E) tcc (S) aag (K) cag (Q) aat (N) tgc (C) tca (S) cat (H) ttc (F) cca (P) act (T) cct (P) ctc (L) ctg (L) gcc (A) tca (S) gaa (E) gac (D) aga (R) aga (R) gag (E) act (T) ggg (G) tta (L) ttc (F) ctc (L) cca (P) tca (S) gct (A) gcc (A) cag (Q) aaa (K) atg (M) aaa (K) aag (K) gcc (A) cat (H) ttc (F) cta (L) aaa (K) acc (T) tgg (W) ttc (F) aga (R) tca (S) aat (N) cca (P) aca (T) aag (K) aca (T) aag (K) aag (K) gca (A) agg (R) ttt (F) tct (S) aca (T) gca (A) tca (S) ctg (L) gcc (A) aag (K) gag (E) ctg (L) aca (T) cac (H) ccc (P) ctg (L) ttg (L) gtg (V) tct (S) tta (L) tta (L) ttg (L) aaa (K) gag (E) aaa (K) cag (Q) gat (D) ggc (G) tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gtg (V) gtg (V) matching aa in delstart region of wt and deletion mutant: ggg (G) ggc (G) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 94 121 H 214 * 94 stomach CDH1 2 c.1027_1027delC p.L343fs*13 length of cdnaseq = 2649 length of protseq = 882 1027 1027 C 1 343 1 343 1 c Total no. of codons in cdna seq = 883 ctg ctg prev c start c-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 2648 ter codon is taa at posn 355 Protein length after deletion = 354 Total no. of codons in del cdnaseq = 883 last codon in array is ag acg (T) tat (Y) acc (T) ctg (L) ctg (L) gtg (V) gtt (V) caa (Q) gct (A) acg (T) tat (Y) acc (T) tgg (W) tgg (W) ttc (F) aag (K) original frameshift length = 13 frameshift length = 13 frameshifted sequence: tgg (W) tgg (W) ttc (F) aag (K) ctg (L) ctg (L) acc (T) ttc (F) aag (K) gtg (V) agg (R) ggt (G) taa (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 13 343 L 355 * 13 stomach CDH1 2 c.377_377delC p.P126fs*89 length of cdnaseq = 2649 length of protseq = 882 377 377 C 1 126 2 126 2 c Total no. of codons in cdna seq = 883 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 2648 ter codon is tga at posn 214 Protein length after deletion = 213 Total no. of codons in del cdnaseq = 883 last codon in array is ag cac (H) cgc (R) ccc (P) ccg (P) ccg (P) ccc (P) cat (H) cag (Q) gcc (A) cac (H) cgc (R) ccc (P) cgc (R) ccc (P) atc (I) agg (R) original frameshift length = 89 frameshift length = 89 frameshifted sequence: cgc (R) ccc (P) atc (I) agg (R) cct (P) ccg (P) ttt (F) ctg (L) gaa (E) tcc (S) aag (K) cag (Q) aat (N) tgc (C) tca (S) cat (H) ttc (F) cca (P) act (T) cct (P) ctc (L) ctg (L) gcc (A) tca (S) gaa (E) gac (D) aga (R) aga (R) gag (E) act (T) ggg (G) tta (L) ttc (F) ctc (L) cca (P) tca (S) gct (A) gcc (A) cag (Q) aaa (K) atg (M) aaa (K) aag (K) gcc (A) cat (H) ttc (F) cta (L) aaa (K) acc (T) tgg (W) ttc (F) aga (R) tca (S) aat (N) cca (P) aca (T) aag (K) aca (T) aag (K) aag (K) gca (A) agg (R) ttt (F) tct (S) aca (T) gca (A) tca (S) ctg (L) gcc (A) aag (K) gag (E) ctg (L) aca (T) cac (H) ccc (P) ctg (L) ttg (L) gtg (V) tct (S) tta (L) tta (L) ttg (L) aaa (K) gag (E) aaa (K) cag (Q) gat (D) ggc (G) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 89 126 P 214 * 89 breast CDH1 3 c.1196_1199delCTGA p.T399fs*17 length of cdnaseq = 2649 length of protseq = 882 1196 1199 CTGA 4 399 2 400 2 ctga Total no. of codons in cdna seq = 883 act gat start a-c end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 2645 ter codon is tga at posn 415 Protein length after deletion = 414 Total no. of codons in del cdnaseq = 882 last codon in array is ag ctg (L) aaa (K) gtg (V) act (T) gat (D) gct (A) gat (D) gcc (A) ccc (P) ctg (L) aaa (K) gtg (V) atg (M) ctg (L) atg (M) ccc (P) original frameshift length = 17 frameshift length = 17 frameshifted sequence: atg (M) ctg (L) atg (M) ccc (P) cca (P) ata (I) ccc (P) cag (Q) cgt (R) ggg (G) agg (R) ctg (L) tat (Y) aca (T) cca (P) tat (Y) tga (TER) wild type sequence in deletion region: act (T) gat (D) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 17 399 T 415 * 17 central_nervous_system CDKN2A 1 c.230_231delCT p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 230 231 CT 2 77 2 77 3 ct Total no. of codons in cdna seq = 157 act act start a-c post c end t-c a-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a gac (D) ccc (P) gcc (A) act (T) act (T) ctc (L) acc (T) cga (R) ccc (P) gac (D) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) original frameshift length = 42 frameshift length = 42 frameshifted sequence: act (T) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: act (T) act (T) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 central_nervous_system CDKN2A 1 c.233_234delTC p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 233 234 TC 2 78 2 78 3 tc Total no. of codons in cdna seq = 157 ctc ctc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ccc (P) gcc (A) act (T) ctc (L) ctc (L) acc (T) cga (R) ccc (P) gtg (V) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) cgt (R) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 central_nervous_system CDKN2A 1 c.352_439del88 p.A118fs*10 length of cdnaseq = 471 length of protseq = 156 352 439 88 88 118 1 147 1 gctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatg Total no. of codons in cdna seq = 157 gct gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 383 Total no. of codons in del cdnaseq = 128 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 127 gtg (V) gac (D) ctg (L) gct (A) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) gtg (V) gac (D) ctg (L) ccg (P) cgg (R) aag (K) gtc (V) original frameshift length = 11 frameshift length = 10 frameshifted sequence: ccg (P) cgg (R) aag (K) gtc (V) cct (P) cag (Q) aca (T) tcc (S) ccg (P) att (I) ga (end) wild type sequence in deletion region: gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) wt frameshift deln region length = 30 first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 10 118 A 127 * 10 endometrium CDKN2A 1 c.178delG p.A60fs*86 length of cdnaseq = 471 length of protseq = 156 178 178 G 1 60 1 60 1 g Total no. of codons in cdna seq = 157 gcg gcg prev g start g-g end g-c --- -cg frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gcc (A) cga (R) gtg (V) gcg (A) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) gcc (A) cga (R) gtg (V) cgg (R) agc (S) tgc (C) tgc (C) original frameshift length = 86 frameshift length = 86 frameshifted sequence: cgg (R) agc (S) tgc (C) tgc (C) tgc (C) tcc (S) acg (T) gcg (A) cgg (R) agc (S) cca (P) act (T) gcg (A) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gcg (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 86 60 A 145 * 86 haematopoietic_and_lymphoid_tissue CDKN2A 1 c.169_181del13 p.A57fs*85 length of cdnaseq = 471 length of protseq = 156 169 181 13 13 57 1 61 1 gcccgagtggcgg Total no. of codons in cdna seq = 157 gcc gag prev c start c-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 458 ter codon is tag at posn 141 Protein length after deletion = 140 Total no. of codons in del cdnaseq = 153 last codon in array is ga atg (M) ggc (G) agc (S) gcc (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) atg (M) ggc (G) agc (S) agc (S) tgc (C) tgc (C) tgc (C) original frameshift length = 85 frameshift length = 85 frameshifted sequence: agc (S) tgc (C) tgc (C) tgc (C) tcc (S) acg (T) gcg (A) cgg (R) agc (S) cca (P) act (T) gcg (A) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gcc (A) cga (R) gtg (V) gcg (A) gag (E) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 85 57 A 141 * 85 haematopoietic_and_lymphoid_tissue CDKN2A 1 c.178_206del29 p.E61fs*49 length of cdnaseq = 471 length of protseq = 156 178 206 29 29 60 1 69 2 gcggagctgctgctgctccacggcgcgga Total no. of codons in cdna seq = 157 gcg gag prev g start g-g end a-g --- --g frameshift deletion length of cdnaseq after deletion = 442 ter codon is tga at posn 109 Protein length after deletion = 108 Total no. of codons in del cdnaseq = 148 last codon in array is a gcc (A) cga (R) gtg (V) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gcc (A) cga (R) gtg (V) gcc (A) caa (Q) ctg (L) cgc (R) original frameshift length = 50 frameshift length = 50 frameshifted sequence: gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) wt frameshift deln region length = 10 matching aa in delstart region of wt and deletion mutant: gcg (A) gcc (A) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 49 61 E 109 * 49 haematopoietic_and_lymphoid_tissue CDKN2A 1 c.179_207del29 p.E61fs*49 length of cdnaseq = 471 length of protseq = 156 179 207 29 29 60 2 69 3 cggagctgctgctgctccacggcgcggag Total no. of codons in cdna seq = 157 gcg gag start g-c post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 442 ter codon is tga at posn 109 Protein length after deletion = 108 Total no. of codons in del cdnaseq = 148 last codon in array is a gcc (A) cga (R) gtg (V) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gcc (A) cga (R) gtg (V) gcc (A) caa (Q) ctg (L) cgc (R) original frameshift length = 50 frameshift length = 50 frameshifted sequence: gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) wt frameshift deln region length = 10 matching aa in delstart region of wt and deletion mutant: gcg (A) gcc (A) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 49 61 E 109 * 49 haematopoietic_and_lymphoid_tissue CDKN2A 1 c.197_198delAC p.H66fs*53 length of cdnaseq = 471 length of protseq = 156 197 198 AC 2 66 2 66 3 ac Total no. of codons in cdna seq = 157 cac cac start c-a post g end c-g c-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ctg (L) ctg (L) ctc (L) cac (H) cac (H) ggc (G) gcg (A) gag (E) ccc (P) ctg (L) ctg (L) ctc (L) cgg (R) cgc (R) gga (G) gcc (A) original frameshift length = 53 frameshift length = 53 frameshifted sequence: cgg (R) cgc (R) gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 53 66 H 118 * 53 haematopoietic_and_lymphoid_tissue CDKN2A 1 c.233_234delTC p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 233 234 TC 2 78 2 78 3 tc Total no. of codons in cdna seq = 157 ctc ctc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ccc (P) gcc (A) act (T) ctc (L) ctc (L) acc (T) cga (R) ccc (P) gtg (V) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) cgt (R) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 haematopoietic_and_lymphoid_tissue CDKN2A 1 c.33_67del35 p.S12fs*20 length of cdnaseq = 471 length of protseq = 156 33 67 35 35 11 3 23 1 ttcggctgactggctggccacggccgcggcccggg Total no. of codons in cdna seq = 157 cct ggt start c-t end g-g cc- -gt frameshift deletion length of cdnaseq after deletion = 436 ter codon is tag at posn 31 Protein length after deletion = 30 Total no. of codons in del cdnaseq = 146 last codon in array is a agc (S) atg (M) gag (E) cct (P) ggt (G) cgg (R) gta (V) gag (E) gag (E) agc (S) atg (M) gag (E) ccg (P) tcg (S) ggt (G) aga (R) original frameshift length = 21 frameshift length = 21 frameshifted sequence: ccg (P) tcg (S) ggt (G) aga (R) gga (G) ggt (G) gcg (A) ggc (G) gct (A) gct (A) gga (G) ggc (G) ggg (G) ggc (G) gct (A) gcc (A) caa (Q) cgc (R) acc (T) gaa (E) tag (TER) wild type sequence in deletion region: cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) wt frameshift deln region length = 13 matching aa in delstart region of wt and deletion mutant: cct (P) ccg (P) matching aa in delstart region of wt and deletion mutant: tcg (S) tcg (S) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 19 12 S 31 * 20 A S 1 haematopoietic_and_lymphoid_tissue CDKN2A c.33_67del35 p.S12fs*20 haematopoietic_and_lymphoid_tissue CDKN2A 1 c.374delA p.D125fs*21 length of cdnaseq = 471 length of protseq = 156 374 374 A 1 125 2 125 2 a Total no. of codons in cdna seq = 157 gat gat start g-a end a-t g-- --t frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga ggc (G) cat (H) cgc (R) gat (D) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ggc (G) cat (H) cgc (R) gtg (V) tcg (S) cac (H) ggt (G) original frameshift length = 21 frameshift length = 21 frameshifted sequence: gtg (V) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 21 125 D 145 * 21 liver CDKN2A 1 c.233_234delTC p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 233 234 TC 2 78 2 78 3 tc Total no. of codons in cdna seq = 157 ctc ctc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ccc (P) gcc (A) act (T) ctc (L) ctc (L) acc (T) cga (R) ccc (P) gtg (V) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) cgt (R) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 liver CDKN2A 1 c.61_83del23 p.R22fs*14 length of cdnaseq = 471 length of protseq = 156 61 83 23 23 21 1 28 2 gcccggggtcgggtagaggaggt Total no. of codons in cdna seq = 157 gcc gtg prev g start g-g end t-g --- --g frameshift deletion length of cdnaseq after deletion = 448 ter codon is tag at posn 35 Protein length after deletion = 34 Total no. of codons in del cdnaseq = 150 last codon in array is a acg (T) gcc (A) gcg (A) gcc (A) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) acg (T) gcc (A) gcg (A) gcg (A) ggc (G) gct (A) gct (A) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gcg (A) ggc (G) gct (A) gct (A) gga (G) ggc (G) ggg (G) ggc (G) gct (A) gcc (A) caa (Q) cgc (R) acc (T) gaa (E) tag (TER) wild type sequence in deletion region: gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) wt frameshift deln region length = 8 matching aa in delstart region of wt and deletion mutant: gcc (A) gcg (A) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 14 22 R 35 * 14 lung CDKN2A 1 c.166_167delAG p.S56fs*63 length of cdnaseq = 471 length of protseq = 156 166 167 AG 2 56 1 56 2 ag Total no. of codons in cdna seq = 157 agc agc prev c start c-a end g-c --- --c frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a atg (M) atg (M) ggc (G) agc (S) agc (S) gcc (A) cga (R) gtg (V) gcg (A) atg (M) atg (M) ggc (G) cgc (R) ccg (P) agt (S) ggc (G) original frameshift length = 63 frameshift length = 63 frameshifted sequence: cgc (R) ccg (P) agt (S) ggc (G) gga (G) gct (A) gct (A) gct (A) gct (A) cca (P) cgg (R) cgc (R) gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 63 56 S 118 * 63 lung CDKN2A 1 c.177_180del1 p.A60fs length of cdnaseq = 471 length of protseq = 156 177 180 1 1 59 3 60 3 ggcg Total no. of codons in cdna seq = 157 gtg gcg start t-g post g end g-g gt- --- frameshift deletion length of cdnaseq after deletion = 467 ter codon is tag at posn 144 Protein length after deletion = 143 Total no. of codons in del cdnaseq = 156 last codon in array is ga agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) agc (S) gcc (A) cga (R) gtg (V) agc (S) tgc (C) tgc (C) original frameshift length = 86 frameshift length = 86 frameshifted sequence: gtg (V) agc (S) tgc (C) tgc (C) tgc (C) tcc (S) acg (T) gcg (A) cgg (R) agc (S) cca (P) act (T) gcg (A) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gtg (V) gcg (A) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gtg (V) gtg (V) first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 85 60 A - * - lung CDKN2A 1 c.216delC p.C72fs*74 length of cdnaseq = 471 length of protseq = 156 216 216 C 1 72 3 72 3 c Total no. of codons in cdna seq = 157 tgc tgc start g-c post g end c-g tg- --- frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gag (E) ccc (P) aac (N) tgc (C) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) gag (E) ccc (P) aac (N) tgg (W) ccg (P) acc (T) ccg (P) original frameshift length = 74 frameshift length = 74 frameshifted sequence: tgg (W) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: tgc (C) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgc (C) final frameshift length = 74 72 C 145 * 74 lung CDKN2A 1 c.243_249delCGTGCAC p.V82fs*62 length of cdnaseq = 471 length of protseq = 156 243 249 CGTGCAC 7 81 3 83 3 cgtgcac Total no. of codons in cdna seq = 157 ccc cac start c-c post g end c-g cc- --- frameshift deletion length of cdnaseq after deletion = 464 ter codon is tag at posn 143 Protein length after deletion = 142 Total no. of codons in del cdnaseq = 155 last codon in array is ga ctc (L) acc (T) cga (R) ccc (P) cac (H) gac (D) gct (A) gcc (A) cgg (R) ctc (L) acc (T) cga (R) ccg (P) acg (T) ctg (L) ccc (P) original frameshift length = 63 frameshift length = 63 frameshifted sequence: ccg (P) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ccc (P) gtg (V) cac (H) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 62 82 V 143 * 62 lung CDKN2A 1 c.258_261del1 p.R87fs length of cdnaseq = 471 length of protseq = 156 258 261 1 1 86 3 87 3 ccgg Total no. of codons in cdna seq = 157 gcc cgg start c-c post g end g-g gc- --- frameshift deletion length of cdnaseq after deletion = 467 ter codon is tag at posn 144 Protein length after deletion = 143 Total no. of codons in del cdnaseq = 156 last codon in array is ga cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) cac (H) gac (D) gct (A) gcg (A) agg (R) gct (A) tcc (S) original frameshift length = 59 frameshift length = 59 frameshifted sequence: gcg (A) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gcc (A) cgg (R) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gcc (A) gcg (A) matching aa in delstart region of wt and deletion mutant: cgg (R) agg (R) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 57 87 R - * - E R 1 lung CDKN2A c.258_261del1 p.R87fs lung CDKN2A 1 c.274delG p.D92fs*54 length of cdnaseq = 471 length of protseq = 156 274 274 G 1 92 1 92 1 g Total no. of codons in cdna seq = 157 gac gac prev g start g-g end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga ggc (G) ttc (F) ctg (L) gac (D) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ggc (G) ttc (F) ctg (L) aca (T) cgc (R) tgg (W) tgg (W) original frameshift length = 54 frameshift length = 54 frameshifted sequence: aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 54 92 D 145 * 54 lung CDKN2A 1 c.313delG p.D105fs*41 length of cdnaseq = 471 length of protseq = 156 313 313 G 1 105 1 105 1 g Total no. of codons in cdna seq = 157 gac gac prev g start g-g end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gcg (A) cgg (R) ctg (L) gac (D) gac (D) gtg (V) cgc (R) gat (D) gcc (A) gcg (A) cgg (R) ctg (L) acg (T) tgc (C) gcg (A) atg (M) original frameshift length = 41 frameshift length = 41 frameshifted sequence: acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 41 105 D 145 * 41 lung CDKN2A 1 c.57delC p.A20fs*6 length of cdnaseq = 471 length of protseq = 156 57 57 C 1 19 3 19 3 c Total no. of codons in cdna seq = 157 gcc gcc start c-c post g end c-g gc- --- frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 25 Protein length after deletion = 24 Total no. of codons in del cdnaseq = 157 last codon in array is ga ctg (L) gcc (A) acg (T) gcc (A) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) ctg (L) gcc (A) acg (T) gcg (A) cgg (R) ccc (P) ggg (G) original frameshift length = 7 frameshift length = 7 frameshifted sequence: gcg (A) cgg (R) ccc (P) ggg (G) gtc (V) ggg (G) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gcg (A) first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 6 20 A 25 * 6 lung CDKN2A 1 c.68delG p.G23fs*3 length of cdnaseq = 471 length of protseq = 156 68 68 G 1 23 2 23 2 g Total no. of codons in cdna seq = 157 ggt ggt start g-g end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 25 Protein length after deletion = 24 Total no. of codons in del cdnaseq = 157 last codon in array is ga gcg (A) gcc (A) cgg (R) ggt (G) ggt (G) cgg (R) gta (V) gag (E) gag (E) gcg (A) gcc (A) cgg (R) gtc (V) ggg (G) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gtc (V) ggg (G) tag (TER) wild type sequence in deletion region: ggt (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 3 23 G 25 * 3 lung CDKN2A 1 c.99_106delGGCGGGGG p.E33fs*8 length of cdnaseq = 471 length of protseq = 156 99 106 GGCGGGGG 8 33 3 36 1 ggcggggg Total no. of codons in cdna seq = 157 gag gcg start a-g end g-c ga- -cg frameshift deletion length of cdnaseq after deletion = 463 ter codon is tag at posn 40 Protein length after deletion = 39 Total no. of codons in del cdnaseq = 155 last codon in array is a gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ctg (L) ccc (P) aac (N) gca (A) gcg (A) ctg (L) ctg (L) gac (D) gct (A) gcc (A) caa (Q) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gac (D) gct (A) gcc (A) caa (Q) cgc (R) acc (T) gaa (E) tag (TER) wild type sequence in deletion region: gag (E) gcg (A) ggg (G) gcg (A) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 8 33 E 40 * 8 oesophagus CDKN2A 1 c.102_117del16 p.G35fs*13 length of cdnaseq = 471 length of protseq = 156 102 117 16 16 34 3 39 3 gggggcgctgcccaac Total no. of codons in cdna seq = 157 gcg aac start c-g post g end c-g gc- --- frameshift deletion length of cdnaseq after deletion = 455 ter codon is tga at posn 47 Protein length after deletion = 46 Total no. of codons in del cdnaseq = 152 last codon in array is ga ctg (L) ctg (L) gag (E) gcg (A) aac (N) gca (A) ccg (P) aat (N) agt (S) ctg (L) ctg (L) gag (E) gcg (A) cac (H) cga (R) ata (I) original frameshift length = 14 frameshift length = 14 frameshifted sequence: gcg (A) cac (H) cga (R) ata (I) gtt (V) acg (T) gtc (V) gga (G) ggc (G) cga (R) tcc (S) agg (R) tca (S) tga (TER) wild type sequence in deletion region: gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: gcg (A) gcg (A) first wt aa affected by frameshift deletion is : ggg (G) final frameshift length = 13 35 G 47 * 13 oesophagus CDKN2A 1 c.161delT p.M54fs*92 length of cdnaseq = 471 length of protseq = 156 161 161 T 1 54 2 54 2 t Total no. of codons in cdna seq = 157 atg atg start a-t end t-g a-- --g frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gtc (V) atg (M) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtc (V) atg (M) atg (M) agg (R) gca (A) gcg (A) ccc (P) original frameshift length = 92 frameshift length = 92 frameshifted sequence: agg (R) gca (A) gcg (A) ccc (P) gag (E) tgg (W) cgg (R) agc (S) tgc (C) tgc (C) tgc (C) tcc (S) acg (T) gcg (A) cgg (R) agc (S) cca (P) act (T) gcg (A) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 92 54 M 145 * 92 oesophagus CDKN2A 1 c.164delG p.G55fs*91 length of cdnaseq = 471 length of protseq = 156 164 164 G 1 55 2 55 2 g Total no. of codons in cdna seq = 157 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga atg (M) atg (M) atg (M) ggc (G) ggc (G) agc (S) gcc (A) cga (R) gtg (V) atg (M) atg (M) atg (M) gca (A) gcg (A) ccc (P) gag (E) original frameshift length = 91 frameshift length = 91 frameshifted sequence: gca (A) gcg (A) ccc (P) gag (E) tgg (W) cgg (R) agc (S) tgc (C) tgc (C) tgc (C) tcc (S) acg (T) gcg (A) cgg (R) agc (S) cca (P) act (T) gcg (A) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 91 55 G 145 * 91 oesophagus CDKN2A 1 c.174_175delAG p.V59fs*60 length of cdnaseq = 471 length of protseq = 156 174 175 AG 2 58 3 59 1 ag Total no. of codons in cdna seq = 157 cga gtg start g-a end g-t cg- -tg frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ggc (G) agc (S) gcc (A) cgt (R) ggc (G) gga (G) gct (A) original frameshift length = 61 frameshift length = 61 frameshifted sequence: cgt (R) ggc (G) gga (G) gct (A) gct (A) gct (A) gct (A) cca (P) cgg (R) cgc (R) gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: cga (R) gtg (V) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cga (R) cgt (R) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 60 59 V 118 * 60 oesophagus CDKN2A 1 c.175_221del47 p.V59fs*45 length of cdnaseq = 471 length of protseq = 156 175 221 47 47 59 1 74 2 gtggcggagctgctgctgctccacggcgcggagcccaactgcgccga Total no. of codons in cdna seq = 157 gtg gac prev a start a-g end a-c --- --c frameshift deletion length of cdnaseq after deletion = 424 ter codon is tga at posn 103 Protein length after deletion = 102 Total no. of codons in del cdnaseq = 142 last codon in array is a agc (S) gcc (A) cga (R) gtg (V) gac (D) ccc (P) gcc (A) act (T) ctc (L) agc (S) gcc (A) cga (R) ccc (P) cgc (R) cac (H) tct (S) original frameshift length = 45 frameshift length = 45 frameshifted sequence: ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) wt frameshift deln region length = 16 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 45 59 V 103 * 45 oesophagus CDKN2A 1 c.180_193del14 p.E61fs*54 length of cdnaseq = 471 length of protseq = 156 180 193 14 14 60 3 65 1 ggagctgctgctgc Total no. of codons in cdna seq = 157 gcg ctc start c-g end c-t gc- -tc frameshift deletion length of cdnaseq after deletion = 457 ter codon is tga at posn 114 Protein length after deletion = 113 Total no. of codons in del cdnaseq = 153 last codon in array is a gcc (A) cga (R) gtg (V) gcg (A) ctc (L) cac (H) ggc (G) gcg (A) gag (E) gcc (A) cga (R) gtg (V) gct (A) cca (P) cgg (R) cgc (R) original frameshift length = 55 frameshift length = 55 frameshifted sequence: gct (A) cca (P) cgg (R) cgc (R) gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: gcg (A) gct (A) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 54 61 E 114 * 54 oesophagus CDKN2A 1 c.194_243del50 p.L65fs*38 length of cdnaseq = 471 length of protseq = 156 194 243 50 50 65 2 81 3 tccacggcgcggagcccaactgcgccgaccccgccactctcacccgaccc Total no. of codons in cdna seq = 157 ctc ccc start c-t post g end c-g c-- --- frameshift deletion length of cdnaseq after deletion = 421 ter codon is tga at posn 102 Protein length after deletion = 101 Total no. of codons in del cdnaseq = 141 last codon in array is a ctg (L) ctg (L) ctg (L) ctc (L) ccc (P) gtg (V) cac (H) gac (D) gct (A) ctg (L) ctg (L) ctg (L) cgt (R) gca (A) cga (R) cgc (R) original frameshift length = 38 frameshift length = 38 frameshifted sequence: cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) wt frameshift deln region length = 17 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 38 65 L 102 * 38 oesophagus CDKN2A 1 c.195_199delCCACG p.H66fs*52 length of cdnaseq = 471 length of protseq = 156 195 199 CCACG 5 65 3 67 1 ccacg Total no. of codons in cdna seq = 157 ctc ggc start t-c end g-g ct- -gc frameshift deletion length of cdnaseq after deletion = 466 ter codon is tga at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 156 last codon in array is a ctg (L) ctg (L) ctg (L) ctc (L) ggc (G) gcg (A) gag (E) ccc (P) aac (N) ctg (L) ctg (L) ctg (L) ctg (L) cgc (R) gga (G) gcc (A) original frameshift length = 53 frameshift length = 53 frameshifted sequence: ctg (L) cgc (R) gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: ctc (L) cac (H) ggc (G) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ctc (L) ctg (L) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 52 66 H 117 * 52 oesophagus CDKN2A 1 c.198_343del146 p.A68fs*3 length of cdnaseq = 471 length of protseq = 156 198 343 146 146 66 3 115 1 cggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccg Total no. of codons in cdna seq = 157 cac gtg start a-c end g-t ca- -tg frameshift deletion length of cdnaseq after deletion = 325 ter codon is tga at posn 70 Protein length after deletion = 69 Total no. of codons in del cdnaseq = 109 last codon in array is a ctg (L) ctg (L) ctc (L) cac (H) gtg (V) gac (D) ctg (L) gct (A) gag (E) ctg (L) ctg (L) ctc (L) cat (H) gga (G) cct (P) ggc (G) original frameshift length = 5 frameshift length = 5 frameshifted sequence: cat (H) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) wt frameshift deln region length = 50 matching aa in delstart region of wt and deletion mutant: cac (H) cat (H) matching aa in delstart region of wt and deletion mutant: ggc (G) gga (G) first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 3 68 A 70 * 3 oesophagus CDKN2A 1 c.215_224del10 p.C72fs*71 length of cdnaseq = 471 length of protseq = 156 215 224 10 10 72 2 75 2 gcgccgaccc Total no. of codons in cdna seq = 157 tgc ccc start t-g end c-c t-- --c frameshift deletion length of cdnaseq after deletion = 461 ter codon is tag at posn 142 Protein length after deletion = 141 Total no. of codons in del cdnaseq = 154 last codon in array is ga gag (E) ccc (P) aac (N) tgc (C) ccc (P) gcc (A) act (T) ctc (L) acc (T) gag (E) ccc (P) aac (N) tcg (S) cca (P) ctc (L) tca (S) original frameshift length = 71 frameshift length = 71 frameshifted sequence: tcg (S) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: tgc (C) gcc (A) gac (D) ccc (P) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : tgc (C) final frameshift length = 71 72 C 142 * 71 oesophagus CDKN2A 1 c.225delC p.A76fs*70 length of cdnaseq = 471 length of protseq = 156 225 225 C 1 75 3 75 3 c Total no. of codons in cdna seq = 157 ccc ccc start c-c post g end c-g cc- --- frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga tgc (C) gcc (A) gac (D) ccc (P) ccc (P) gcc (A) act (T) ctc (L) acc (T) tgc (C) gcc (A) gac (D) ccg (P) cca (P) ctc (L) tca (S) original frameshift length = 71 frameshift length = 71 frameshifted sequence: ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 70 76 A 145 * 70 oesophagus CDKN2A 1 c.22delA p.S8fs*18 length of cdnaseq = 471 length of protseq = 156 22 22 A 1 8 1 8 1 a Total no. of codons in cdna seq = 157 agc agc prev c start c-a end a-g --- -gc frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 25 Protein length after deletion = 24 Total no. of codons in del cdnaseq = 157 last codon in array is ga gcg (A) ggg (G) agc (S) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gcg (A) ggg (G) agc (S) gca (A) tgg (W) agc (S) ctt (L) original frameshift length = 18 frameshift length = 18 frameshifted sequence: gca (A) tgg (W) agc (S) ctt (L) cgg (R) ctg (L) act (T) ggc (G) tgg (W) cca (P) cgg (R) ccg (P) cgg (R) ccc (P) ggg (G) gtc (V) ggg (G) tag (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 18 8 S 25 * 18 oesophagus CDKN2A 1 c.231delT p.L78fs*68 length of cdnaseq = 471 length of protseq = 156 231 231 T 1 77 3 77 3 t Total no. of codons in cdna seq = 157 act act start c-t post c end t-c ac- --- frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gac (D) ccc (P) gcc (A) act (T) act (T) ctc (L) acc (T) cga (R) ccc (P) gac (D) ccc (P) gcc (A) acc (T) tca (S) ccc (P) gac (D) original frameshift length = 69 frameshift length = 69 frameshifted sequence: acc (T) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: act (T) acc (T) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 68 78 L 145 * 68 oesophagus CDKN2A 1 c.233_234delTC p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 233 234 TC 2 78 2 78 3 tc Total no. of codons in cdna seq = 157 ctc ctc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ccc (P) gcc (A) act (T) ctc (L) ctc (L) acc (T) cga (R) ccc (P) gtg (V) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) cgt (R) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 oesophagus CDKN2A 1 c.235_245del11 p.T79fs*37 length of cdnaseq = 471 length of protseq = 156 235 245 11 11 79 1 82 2 acccgacccgt Total no. of codons in cdna seq = 157 acc gtg prev c start c-a end t-g --- --g frameshift deletion length of cdnaseq after deletion = 460 ter codon is tga at posn 115 Protein length after deletion = 114 Total no. of codons in del cdnaseq = 154 last codon in array is a gcc (A) act (T) ctc (L) acc (T) gtg (V) cac (H) gac (D) gct (A) gcc (A) gcc (A) act (T) ctc (L) gca (A) cga (R) cgc (R) tgc (C) original frameshift length = 37 frameshift length = 37 frameshifted sequence: gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: acc (T) cga (R) ccc (P) gtg (V) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 37 79 T 115 * 37 oesophagus CDKN2A 1 c.238_254del17 p.R80fs*34 length of cdnaseq = 471 length of protseq = 156 238 254 17 17 80 1 85 2 cgacccgtgcacgacgc Total no. of codons in cdna seq = 157 cga gct prev c start c-c end c-t --- --t frameshift deletion length of cdnaseq after deletion = 454 ter codon is tga at posn 113 Protein length after deletion = 112 Total no. of codons in del cdnaseq = 152 last codon in array is a act (T) ctc (L) acc (T) cga (R) gct (A) gcc (A) cgg (R) gag (E) ggc (G) act (T) ctc (L) acc (T) tgc (C) ccg (P) gga (G) ggg (G) original frameshift length = 34 frameshift length = 34 frameshifted sequence: tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 34 80 R 113 * 34 oesophagus CDKN2A 1 c.239delG p.R80fs*66 length of cdnaseq = 471 length of protseq = 156 239 239 G 1 80 2 80 2 g Total no. of codons in cdna seq = 157 cga cga start c-g end g-a c-- --a frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga act (T) ctc (L) acc (T) cga (R) cga (R) ccc (P) gtg (V) cac (H) gac (D) act (T) ctc (L) acc (T) cac (H) ccg (P) tgc (C) acg (T) original frameshift length = 66 frameshift length = 66 frameshifted sequence: cac (H) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: cga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 66 80 R 145 * 66 oesophagus CDKN2A 1 c.313delG p.D105fs*41 length of cdnaseq = 471 length of protseq = 156 313 313 G 1 105 1 105 1 g Total no. of codons in cdna seq = 157 gac gac prev g start g-g end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gcg (A) cgg (R) ctg (L) gac (D) gac (D) gtg (V) cgc (R) gat (D) gcc (A) gcg (A) cgg (R) ctg (L) acg (T) tgc (C) gcg (A) atg (M) original frameshift length = 41 frameshift length = 41 frameshifted sequence: acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 41 105 D 145 * 41 oesophagus CDKN2A 1 c.327delC p.W110fs*36 length of cdnaseq = 471 length of protseq = 156 327 327 C 1 109 3 109 3 c Total no. of codons in cdna seq = 157 gcc gcc start c-c post t end c-t gc- --- frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gtg (V) cgc (R) gat (D) gcc (A) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) gtg (V) cgc (R) gat (D) gct (A) ggg (G) gcc (A) gtc (V) original frameshift length = 37 frameshift length = 37 frameshifted sequence: gct (A) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gct (A) first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 36 110 W 145 * 36 oesophagus CDKN2A 1 c.33_57del25 p.S12fs*6 length of cdnaseq = 471 length of protseq = 156 33 57 25 25 11 3 19 3 ttcggctgactggctggccacggcc Total no. of codons in cdna seq = 157 cct gcc start c-t post g end c-g cc- --- frameshift deletion length of cdnaseq after deletion = 446 ter codon is tag at posn 17 Protein length after deletion = 16 Total no. of codons in del cdnaseq = 149 last codon in array is ga agc (S) atg (M) gag (E) cct (P) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) agc (S) atg (M) gag (E) ccg (P) cgg (R) ccc (P) ggg (G) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ccg (P) cgg (R) ccc (P) ggg (G) gtc (V) ggg (G) tag (TER) wild type sequence in deletion region: cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) wt frameshift deln region length = 9 matching aa in delstart region of wt and deletion mutant: cct (P) ccg (P) first wt aa affected by frameshift deletion is : tcg (S) final frameshift length = 6 12 S 17 * 6 oesophagus CDKN2A 1 c.33delT p.S12fs*14 length of cdnaseq = 471 length of protseq = 156 33 33 T 1 11 3 11 3 t Total no. of codons in cdna seq = 157 cct cct start c-t post t end t-t cc- --- frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 25 Protein length after deletion = 24 Total no. of codons in del cdnaseq = 157 last codon in array is ga agc (S) atg (M) gag (E) cct (P) cct (P) tcg (S) gct (A) gac (D) tgg (W) agc (S) atg (M) gag (E) cct (P) cgg (R) ctg (L) act (T) original frameshift length = 15 frameshift length = 15 frameshifted sequence: cct (P) cgg (R) ctg (L) act (T) ggc (G) tgg (W) cca (P) cgg (R) ccg (P) cgg (R) ccc (P) ggg (G) gtc (V) ggg (G) tag (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cct (P) cct (P) first wt aa affected by frameshift deletion is : tcg (S) final frameshift length = 14 12 S 25 * 14 oesophagus CDKN2A 1 c.360_372del13 p.L121fs*21 length of cdnaseq = 471 length of protseq = 156 360 372 13 13 120 3 124 3 gctgggccatcgc Total no. of codons in cdna seq = 157 gag cgc start a-g post g end c-g ga- --- frameshift deletion length of cdnaseq after deletion = 458 ter codon is tag at posn 141 Protein length after deletion = 140 Total no. of codons in del cdnaseq = 153 last codon in array is ga ctg (L) gct (A) gag (E) gag (E) cgc (R) gat (D) gtc (V) gca (A) cgg (R) ctg (L) gct (A) gag (E) gag (E) atg (M) tcg (S) cac (H) original frameshift length = 22 frameshift length = 22 frameshifted sequence: gag (E) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gag (E) ctg (L) ggc (G) cat (H) cgc (R) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 21 121 L 141 * 21 oesophagus CDKN2A 1 c.406_407delGG p.G136fs*5 length of cdnaseq = 471 length of protseq = 156 406 407 GG 2 136 1 136 2 gg Total no. of codons in cdna seq = 157 ggc ggc prev g start g-g end g-c --- --c frameshift deletion length of cdnaseq after deletion = 469 ter codon is taa at posn 140 Protein length after deletion = 139 Total no. of codons in del cdnaseq = 157 last codon in array is a gct (A) gcg (A) ggg (G) ggc (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) gct (A) gcg (A) ggg (G) cac (H) cag (Q) agg (R) cag (Q) original frameshift length = 5 frameshift length = 5 frameshifted sequence: cac (H) cag (Q) agg (R) cag (Q) taa (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 5 136 G 140 * 5 oesophagus CDKN2A 1 c.430delC p.R144fs*2 length of cdnaseq = 471 length of protseq = 156 430 430 C 1 144 1 144 1 c Total no. of codons in cdna seq = 157 cgc cgc prev c start c-c end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga aac (N) cat (H) gcc (A) cgc (R) cgc (R) ata (I) gat (D) gcc (A) gcg (A) aac (N) cat (H) gcc (A) gca (A) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gca (A) tag (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 2 144 R 145 * 2 oesophagus CDKN2A 1 c.83_84delTG p.V28fs*15 length of cdnaseq = 471 length of protseq = 156 83 84 TG 2 28 2 28 3 tg Total no. of codons in cdna seq = 157 gtg gtg start g-t post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tag at posn 42 Protein length after deletion = 41 Total no. of codons in del cdnaseq = 157 last codon in array is a gta (V) gag (E) gag (E) gtg (V) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gta (V) gag (E) gag (E) gcg (A) ggc (G) gct (A) gct (A) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gcg (A) ggc (G) gct (A) gct (A) gga (G) ggc (G) ggg (G) ggc (G) gct (A) gcc (A) caa (Q) cgc (R) acc (T) gaa (E) tag (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 15 28 V 42 * 15 ovary CDKN2A 1 c.163_178del16 p.G55fs*86 length of cdnaseq = 471 length of protseq = 156 163 178 16 16 55 1 60 1 ggcagcgcccgagtgg Total no. of codons in cdna seq = 157 ggc gcg prev g start g-g end g-c --- -cg frameshift deletion length of cdnaseq after deletion = 455 ter codon is tag at posn 140 Protein length after deletion = 139 Total no. of codons in del cdnaseq = 152 last codon in array is ga atg (M) atg (M) atg (M) ggc (G) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) atg (M) atg (M) atg (M) cgg (R) agc (S) tgc (C) tgc (C) original frameshift length = 86 frameshift length = 86 frameshifted sequence: cgg (R) agc (S) tgc (C) tgc (C) tgc (C) tcc (S) acg (T) gcg (A) cgg (R) agc (S) cca (P) act (T) gcg (A) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 86 55 G 140 * 86 ovary CDKN2A 1 c.193delC p.L65fs*81 length of cdnaseq = 471 length of protseq = 156 193 193 C 1 65 1 65 1 c Total no. of codons in cdna seq = 157 ctc ctc prev g start g-c end c-t --- -tc frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga ctg (L) ctg (L) ctg (L) ctc (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) tcc (S) acg (T) gcg (A) cgg (R) original frameshift length = 81 frameshift length = 81 frameshifted sequence: tcc (S) acg (T) gcg (A) cgg (R) agc (S) cca (P) act (T) gcg (A) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 81 65 L 145 * 81 pancreas CDKN2A 1 c.134delG p.G45fs*8 length of cdnaseq = 471 length of protseq = 156 134 134 G 1 45 2 45 2 g Total no. of codons in cdna seq = 157 ggt ggt start g-g end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 470 ter codon is tga at posn 52 Protein length after deletion = 51 Total no. of codons in del cdnaseq = 157 last codon in array is ga aat (N) agt (S) tac (Y) ggt (G) ggt (G) cgg (R) agg (R) ccg (P) atc (I) aat (N) agt (S) tac (Y) gtc (V) gga (G) ggc (G) cga (R) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gtc (V) gga (G) ggc (G) cga (R) tcc (S) agg (R) tca (S) tga (TER) wild type sequence in deletion region: ggt (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 8 45 G 52 * 8 pancreas CDKN2A 1 c.171_172delCC p.R58fs*61 length of cdnaseq = 471 length of protseq = 156 171 172 CC 2 57 3 58 1 cc Total no. of codons in cdna seq = 157 gcc cga start c-c end c-g gc- -ga frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) atg (M) ggc (G) agc (S) gcg (A) agt (S) ggc (G) gga (G) original frameshift length = 62 frameshift length = 62 frameshifted sequence: gcg (A) agt (S) ggc (G) gga (G) gct (A) gct (A) gct (A) gct (A) cca (P) cgg (R) cgc (R) gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gcc (A) cga (R) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gcc (A) gcg (A) first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 61 58 R 118 * 61 pancreas CDKN2A 1 c.177_187del11 p.E61fs*55 length of cdnaseq = 471 length of protseq = 156 177 187 11 11 59 3 63 1 ggcggagctgc Total no. of codons in cdna seq = 157 gtg ctg start t-g end c-t gt- -tg frameshift deletion length of cdnaseq after deletion = 460 ter codon is tga at posn 115 Protein length after deletion = 114 Total no. of codons in del cdnaseq = 154 last codon in array is a agc (S) gcc (A) cga (R) gtg (V) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) agc (S) gcc (A) cga (R) gtt (V) gct (A) gct (A) cca (P) original frameshift length = 57 frameshift length = 57 frameshifted sequence: gtt (V) gct (A) gct (A) cca (P) cgg (R) cgc (R) gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gtg (V) gcg (A) gag (E) ctg (L) ctg (L) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: gtg (V) gtt (V) matching aa in delstart region of wt and deletion mutant: gcg (A) gct (A) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 55 61 E 115 * 55 pancreas CDKN2A 1 c.228delC p.T77fs*69 length of cdnaseq = 471 length of protseq = 156 228 228 C 1 76 3 76 3 c Total no. of codons in cdna seq = 157 gcc gcc start c-c post a end c-a gc- --- frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gcc (A) gac (D) ccc (P) gcc (A) gcc (A) act (T) ctc (L) acc (T) cga (R) gcc (A) gac (D) ccc (P) gca (A) ctc (L) tca (S) ccc (P) original frameshift length = 70 frameshift length = 70 frameshifted sequence: gca (A) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 69 77 T 145 * 69 pancreas CDKN2A 1 c.232_233delCT p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 232 233 CT 2 78 1 78 2 ct Total no. of codons in cdna seq = 157 ctc ctc prev t start t-c end t-c --- --c frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ccc (P) gcc (A) act (T) ctc (L) ctc (L) acc (T) cga (R) ccc (P) gtg (V) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) cgt (R) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 pancreas CDKN2A 1 c.233_234delTC p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 233 234 TC 2 78 2 78 3 tc Total no. of codons in cdna seq = 157 ctc ctc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ccc (P) gcc (A) act (T) ctc (L) ctc (L) acc (T) cga (R) ccc (P) gtg (V) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) cgt (R) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 pancreas CDKN2A 1 c.271delC p.L91fs*55 length of cdnaseq = 471 length of protseq = 156 271 271 C 1 91 1 91 1 c Total no. of codons in cdna seq = 157 ctg ctg prev c start c-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gag (E) ggc (G) ttc (F) ctg (L) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gag (E) ggc (G) ttc (F) tgg (W) aca (T) cgc (R) tgg (W) original frameshift length = 55 frameshift length = 55 frameshifted sequence: tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 55 91 L 145 * 55 pancreas CDKN2A 1 c.314_333del20 p.D105fs*8 length of cdnaseq = 471 length of protseq = 156 314 333 20 20 105 2 111 3 acgtgcgcgatgcctggggc Total no. of codons in cdna seq = 157 gac ggc start g-a post c end c-c g-- --- frameshift deletion length of cdnaseq after deletion = 451 ter codon is tga at posn 112 Protein length after deletion = 111 Total no. of codons in del cdnaseq = 151 last codon in array is a gcg (A) cgg (R) ctg (L) gac (D) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gcg (A) cgg (R) ctg (L) gcg (A) tct (S) gcc (A) cgt (R) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gcg (A) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 8 105 D 112 * 8 pancreas CDKN2A 1 c.42_45delCTGG p.L16fs*9 length of cdnaseq = 471 length of protseq = 156 42 45 CTGG 4 14 3 15 3 ctgg Total no. of codons in cdna seq = 157 gac tgg start a-c post c end g-c ga- --- frameshift deletion length of cdnaseq after deletion = 467 ter codon is tag at posn 24 Protein length after deletion = 23 Total no. of codons in del cdnaseq = 156 last codon in array is ga cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) cct (P) tcg (S) gct (A) gac (D) tgg (W) cca (P) cgg (R) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gac (D) tgg (W) cca (P) cgg (R) ccg (P) cgg (R) ccc (P) ggg (G) gtc (V) ggg (G) tag (TER) wild type sequence in deletion region: gac (D) tgg (W) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gac (D) gac (D) matching aa in delstart region of wt and deletion mutant: tgg (W) tgg (W) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 9 16 L 24 * 9 pancreas CDKN2A 1 c.85_101del17 p.R29fs*9 length of cdnaseq = 471 length of protseq = 156 85 101 17 17 29 1 34 2 cgggcgctgctggaggc Total no. of codons in cdna seq = 157 cgg gcg prev g start g-c end c-g --- --g frameshift deletion length of cdnaseq after deletion = 454 ter codon is tag at posn 37 Protein length after deletion = 36 Total no. of codons in del cdnaseq = 152 last codon in array is a gag (E) gag (E) gtg (V) cgg (R) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) gag (E) gag (E) gtg (V) ggg (G) ggc (G) gct (A) gcc (A) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ggg (G) ggc (G) gct (A) gcc (A) caa (Q) cgc (R) acc (T) gaa (E) tag (TER) wild type sequence in deletion region: cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 9 29 R 37 * 9 salivary_gland CDKN2A 1 c.49_61del13 p.A17fs*5 length of cdnaseq = 471 length of protseq = 156 49 61 13 13 17 1 21 1 gccacggccgcgg Total no. of codons in cdna seq = 157 gcc gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 458 ter codon is tag at posn 21 Protein length after deletion = 20 Total no. of codons in del cdnaseq = 153 last codon in array is ga gac (D) tgg (W) ctg (L) gcc (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gac (D) tgg (W) ctg (L) ccc (P) ggg (G) gtc (V) ggg (G) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ccc (P) ggg (G) gtc (V) ggg (G) tag (TER) wild type sequence in deletion region: gcc (A) acg (T) gcc (A) gcg (A) gcc (A) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 5 17 A 21 * 5 skin CDKN2A 1 c.128_129delGT p.S43fs*76 length of cdnaseq = 471 length of protseq = 156 128 129 GT 2 43 2 43 3 gt Total no. of codons in cdna seq = 157 agt agt start a-g post t end t-t a-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a gca (A) ccg (P) aat (N) agt (S) agt (S) tac (Y) ggt (G) cgg (R) agg (R) gca (A) ccg (P) aat (N) ata (I) cgg (R) tcg (S) gag (E) original frameshift length = 76 frameshift length = 76 frameshifted sequence: ata (I) cgg (R) tcg (S) gag (E) gcc (A) gat (D) cca (P) ggt (G) cat (H) gat (D) gat (D) ggg (G) cag (Q) cgc (R) ccg (P) agt (S) ggc (G) gga (G) gct (A) gct (A) gct (A) gct (A) cca (P) cgg (R) cgc (R) gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 76 43 S 118 * 76 skin CDKN2A 1 c.171_178delCCGAGTGG p.R58fs*59 length of cdnaseq = 471 length of protseq = 156 171 178 CCGAGTGG 8 57 3 60 1 ccgagtgg Total no. of codons in cdna seq = 157 gcc gcg start c-c end g-c gc- -cg frameshift deletion length of cdnaseq after deletion = 463 ter codon is tga at posn 116 Protein length after deletion = 115 Total no. of codons in del cdnaseq = 155 last codon in array is a atg (M) ggc (G) agc (S) gcc (A) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) atg (M) ggc (G) agc (S) gcc (A) gga (G) gct (A) gct (A) original frameshift length = 60 frameshift length = 60 frameshifted sequence: gcc (A) gga (G) gct (A) gct (A) gct (A) gct (A) cca (P) cgg (R) cgc (R) gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gcc (A) cga (R) gtg (V) gcg (A) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: gcc (A) gcc (A) first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 59 58 R 116 * 59 skin CDKN2A 1 c.172_179delCGAGTGGC p.R58fs*59 length of cdnaseq = 471 length of protseq = 156 172 179 CGAGTGGC 8 58 1 60 2 cgagtggc Total no. of codons in cdna seq = 157 cga gcg prev c start c-c end c-g --- --g frameshift deletion length of cdnaseq after deletion = 463 ter codon is tga at posn 116 Protein length after deletion = 115 Total no. of codons in del cdnaseq = 155 last codon in array is a ggc (G) agc (S) gcc (A) cga (R) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ggc (G) agc (S) gcc (A) gga (G) gct (A) gct (A) gct (A) original frameshift length = 59 frameshift length = 59 frameshifted sequence: gga (G) gct (A) gct (A) gct (A) gct (A) cca (P) cgg (R) cgc (R) gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: cga (R) gtg (V) gcg (A) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 59 58 R 116 * 59 skin CDKN2A 1 c.203_204delCG p.A68fs*51 length of cdnaseq = 471 length of protseq = 156 203 204 CG 2 68 2 68 3 cg Total no. of codons in cdna seq = 157 gcg gcg start g-c post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ctc (L) cac (H) ggc (G) gcg (A) gcg (A) gag (E) ccc (P) aac (N) tgc (C) ctc (L) cac (H) ggc (G) gga (G) gcc (A) caa (Q) ctg (L) original frameshift length = 51 frameshift length = 51 frameshifted sequence: gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gcg (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 51 68 A 118 * 51 skin CDKN2A 1 c.266delG p.G89fs*57 length of cdnaseq = 471 length of protseq = 156 266 266 G 1 89 2 89 2 g Total no. of codons in cdna seq = 157 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gcc (A) cgg (R) gag (E) ggc (G) ggc (G) ttc (F) ctg (L) gac (D) acg (T) gcc (A) cgg (R) gag (E) gct (A) tcc (S) tgg (W) aca (T) original frameshift length = 57 frameshift length = 57 frameshifted sequence: gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 57 89 G 145 * 57 skin CDKN2A 1 c.290_294delTGCAC p.L97fs*21 length of cdnaseq = 471 length of protseq = 156 290 294 TGCAC 5 97 2 98 3 tgcac Total no. of codons in cdna seq = 157 ctg cac start c-t post c end c-c c-- --- frameshift deletion length of cdnaseq after deletion = 466 ter codon is tga at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 156 last codon in array is a ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) ctg (L) gtg (V) gtg (V) ccg (P) ggc (G) cgg (R) ggc (G) original frameshift length = 21 frameshift length = 21 frameshifted sequence: ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: ctg (L) cac (H) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 21 97 L 117 * 21 skin CDKN2A 1 c.47_50delTGGC p.L16fs*9 length of cdnaseq = 471 length of protseq = 156 47 50 TGGC 4 16 2 17 2 tggc Total no. of codons in cdna seq = 157 ctg gcc start c-t end c-c c-- --c frameshift deletion length of cdnaseq after deletion = 467 ter codon is tag at posn 24 Protein length after deletion = 23 Total no. of codons in del cdnaseq = 156 last codon in array is ga gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) gct (A) gac (D) tgg (W) cca (P) cgg (R) ccg (P) cgg (R) original frameshift length = 9 frameshift length = 9 frameshifted sequence: cca (P) cgg (R) ccg (P) cgg (R) ccc (P) ggg (G) gtc (V) ggg (G) tag (TER) wild type sequence in deletion region: ctg (L) gcc (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 9 16 L 24 * 9 upper_aerodigestive_tract CDKN2A 1 c.105_106delGG p.L37fs*6 length of cdnaseq = 471 length of protseq = 156 105 106 GG 2 35 3 36 1 gg Total no. of codons in cdna seq = 157 ggg gcg start g-g end g-c gg- -cg frameshift deletion length of cdnaseq after deletion = 469 ter codon is tag at posn 42 Protein length after deletion = 41 Total no. of codons in del cdnaseq = 157 last codon in array is a ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ctg (L) gag (E) gcg (A) ggc (G) gct (A) gcc (A) caa (Q) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ggc (G) gct (A) gcc (A) caa (Q) cgc (R) acc (T) gaa (E) tag (TER) wild type sequence in deletion region: ggg (G) gcg (A) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ggg (G) ggc (G) matching aa in delstart region of wt and deletion mutant: gcg (A) gct (A) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 6 37 L 42 * 6 upper_aerodigestive_tract CDKN2A 1 c.168delC p.S56fs*90 length of cdnaseq = 471 length of protseq = 156 168 168 C 1 56 3 56 3 c Total no. of codons in cdna seq = 157 agc agc start g-c post g end c-g ag- --- frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga atg (M) atg (M) ggc (G) agc (S) agc (S) gcc (A) cga (R) gtg (V) gcg (A) atg (M) atg (M) ggc (G) agg (R) ccc (P) gag (E) tgg (W) original frameshift length = 90 frameshift length = 90 frameshifted sequence: agg (R) ccc (P) gag (E) tgg (W) cgg (R) agc (S) tgc (C) tgc (C) tgc (C) tcc (S) acg (T) gcg (A) cgg (R) agc (S) cca (P) act (T) gcg (A) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 90 56 S 145 * 90 upper_aerodigestive_tract CDKN2A 1 c.194_206del13 p.L65fs*77 length of cdnaseq = 471 length of protseq = 156 194 206 13 13 65 2 69 2 tccacggcgcgga Total no. of codons in cdna seq = 157 ctc gag start c-t end a-g c-- --g frameshift deletion length of cdnaseq after deletion = 458 ter codon is tag at posn 141 Protein length after deletion = 140 Total no. of codons in del cdnaseq = 153 last codon in array is ga ctg (L) ctg (L) ctg (L) ctc (L) gag (E) ccc (P) aac (N) tgc (C) gcc (A) ctg (L) ctg (L) ctg (L) cgc (R) cca (P) act (T) gcg (A) original frameshift length = 77 frameshift length = 77 frameshifted sequence: cgc (R) cca (P) act (T) gcg (A) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ctc (L) cac (H) ggc (G) gcg (A) gag (E) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 77 65 L 141 * 77 upper_aerodigestive_tract CDKN2A 1 c.205delG p.E69fs*77 length of cdnaseq = 471 length of protseq = 156 205 205 G 1 69 1 69 1 g Total no. of codons in cdna seq = 157 gag gag prev g start g-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga cac (H) ggc (G) gcg (A) gag (E) gag (E) ccc (P) aac (N) tgc (C) gcc (A) cac (H) ggc (G) gcg (A) agc (S) cca (P) act (T) gcg (A) original frameshift length = 77 frameshift length = 77 frameshifted sequence: agc (S) cca (P) act (T) gcg (A) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 77 69 E 145 * 77 upper_aerodigestive_tract CDKN2A 1 c.231_232delTC p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 231 232 TC 2 77 3 78 1 tc Total no. of codons in cdna seq = 157 act ctc start c-t end c-t ac- -tc frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) gac (D) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) original frameshift length = 42 frameshift length = 42 frameshifted sequence: act (T) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: act (T) ctc (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: act (T) act (T) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 upper_aerodigestive_tract CDKN2A 1 c.231_234delTCTC p.L78fs*67 length of cdnaseq = 471 length of protseq = 156 231 234 TCTC 4 77 3 78 3 tctc Total no. of codons in cdna seq = 157 act ctc start c-t post a end c-a ac- --- frameshift deletion length of cdnaseq after deletion = 467 ter codon is tag at posn 144 Protein length after deletion = 143 Total no. of codons in del cdnaseq = 156 last codon in array is ga gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) gac (D) ccc (P) gcc (A) aca (T) ccc (P) gac (D) ccg (P) original frameshift length = 68 frameshift length = 68 frameshifted sequence: aca (T) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: act (T) ctc (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: act (T) aca (T) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 67 78 L 144 * 67 upper_aerodigestive_tract CDKN2A 1 c.232_233delCT p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 232 233 CT 2 78 1 78 2 ct Total no. of codons in cdna seq = 157 ctc ctc prev t start t-c end t-c --- --c frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ccc (P) gcc (A) act (T) ctc (L) ctc (L) acc (T) cga (R) ccc (P) gtg (V) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) cgt (R) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 upper_aerodigestive_tract CDKN2A 1 c.274delG p.D92fs*54 length of cdnaseq = 471 length of protseq = 156 274 274 G 1 92 1 92 1 g Total no. of codons in cdna seq = 157 gac gac prev g start g-g end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga ggc (G) ttc (F) ctg (L) gac (D) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ggc (G) ttc (F) ctg (L) aca (T) cgc (R) tgg (W) tgg (W) original frameshift length = 54 frameshift length = 54 frameshifted sequence: aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 54 92 D 145 * 54 upper_aerodigestive_tract CDKN2A 1 c.281delT p.L94fs*52 length of cdnaseq = 471 length of protseq = 156 281 281 T 1 94 2 94 2 t Total no. of codons in cdna seq = 157 ctg ctg start c-t end t-g c-- --g frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga ctg (L) gac (D) acg (T) ctg (L) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) ctg (L) gac (D) acg (T) cgg (R) tgg (W) tgc (C) tgc (C) original frameshift length = 52 frameshift length = 52 frameshifted sequence: cgg (R) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 52 94 L 145 * 52 upper_aerodigestive_tract CDKN2A 1 c.300_304delCGGGG p.G101fs*17 length of cdnaseq = 471 length of protseq = 156 300 304 CGGGG 5 100 3 102 1 cgggg Total no. of codons in cdna seq = 157 gcc gcg start c-c end g-c gc- -cg frameshift deletion length of cdnaseq after deletion = 466 ter codon is tga at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 156 last codon in array is a ctg (L) cac (H) cgg (R) gcc (A) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) gcg (A) gct (A) gga (G) original frameshift length = 18 frameshift length = 18 frameshifted sequence: gcc (A) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gcc (A) ggg (G) gcg (A) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: gcc (A) gcc (A) first wt aa affected by frameshift deletion is : ggg (G) final frameshift length = 17 101 G 117 * 17 upper_aerodigestive_tract CDKN2A 1 c.300_306delCGGGGCG p.A102fs*42 length of cdnaseq = 471 length of protseq = 156 300 306 CGGGGCG 7 100 3 102 3 cggggcg Total no. of codons in cdna seq = 157 gcc gcg start c-c post c end g-c gc- --- frameshift deletion length of cdnaseq after deletion = 464 ter codon is tag at posn 143 Protein length after deletion = 142 Total no. of codons in del cdnaseq = 155 last codon in array is ga ctg (L) cac (H) cgg (R) gcc (A) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggc (G) tgg (W) acg (T) original frameshift length = 44 frameshift length = 44 frameshifted sequence: gcc (A) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gcc (A) ggg (G) gcg (A) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: gcc (A) gcc (A) matching aa in delstart region of wt and deletion mutant: ggg (G) ggc (G) first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 42 102 A 143 * 42 upper_aerodigestive_tract CDKN2A 1 c.327_328delCT p.W110fs*9 length of cdnaseq = 471 length of protseq = 156 327 328 CT 2 109 3 110 1 ct Total no. of codons in cdna seq = 157 gcc tgg start c-c end t-g gc- -gg frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) cgc (R) gat (D) gcg (A) ggg (G) ccg (P) tct (S) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gcg (A) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gcc (A) tgg (W) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gcc (A) gcg (A) first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 9 110 W 118 * 9 upper_aerodigestive_tract CDKN2A 1 c.372delC p.R124fs*22 length of cdnaseq = 471 length of protseq = 156 372 372 C 1 124 3 124 3 c Total no. of codons in cdna seq = 157 cgc cgc start g-c post g end c-g cg- --- frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga ctg (L) ggc (G) cat (H) cgc (R) cgc (R) gat (D) gtc (V) gca (A) cgg (R) ctg (L) ggc (G) cat (H) cgg (R) atg (M) tcg (S) cac (H) original frameshift length = 22 frameshift length = 22 frameshifted sequence: cgg (R) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgc (R) cgg (R) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 21 124 R 145 * 22 D R 1 upper_aerodigestive_tract CDKN2A c.372delC p.R124fs*22 upper_aerodigestive_tract CDKN2A 1 c.379_406del28 p.R128fs*9 length of cdnaseq = 471 length of protseq = 156 379 406 28 28 127 1 136 1 gcacggtacctgcgcgcggctgcggggg Total no. of codons in cdna seq = 157 gca ggc prev c start c-g end g-g --- -gc frameshift deletion length of cdnaseq after deletion = 443 ter codon is tag at posn 136 Protein length after deletion = 135 Total no. of codons in del cdnaseq = 148 last codon in array is ga cgc (R) gat (D) gtc (V) gca (A) ggc (G) acc (T) aga (R) ggc (G) agt (S) cgc (R) gat (D) gtc (V) gca (A) cca (P) gag (E) gca (A) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) wt frameshift deln region length = 10 matching aa in delstart region of wt and deletion mutant: gca (A) gca (A) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 9 128 R 136 * 9 upper_aerodigestive_tract CDKN2A 1 c.383_410del28 p.R128fs*9 length of cdnaseq = 471 length of protseq = 156 383 410 28 28 128 2 137 2 ggtacctgcgcgcggctgcggggggcac Total no. of codons in cdna seq = 157 cgg acc start c-g end c-c c-- --c frameshift deletion length of cdnaseq after deletion = 443 ter codon is tag at posn 136 Protein length after deletion = 135 Total no. of codons in del cdnaseq = 148 last codon in array is ga gat (D) gtc (V) gca (A) cgg (R) acc (T) aga (R) ggc (G) agt (S) aac (N) gat (D) gtc (V) gca (A) cca (P) gag (E) gca (A) gta (V) original frameshift length = 9 frameshift length = 9 frameshifted sequence: cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) wt frameshift deln region length = 10 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 9 128 R 136 * 9 upper_aerodigestive_tract CDKN2A 1 c.389_389delT p.L130fs*16 length of cdnaseq = 471 length of protseq = 156 389 389 T 1 130 2 130 2 t Total no. of codons in cdna seq = 157 ctg ctg start c-t end t-g c-- --g frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gca (A) cgg (R) tac (Y) ctg (L) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) gca (A) cgg (R) tac (Y) cgc (R) gcg (A) cgg (R) ctg (L) original frameshift length = 16 frameshift length = 16 frameshifted sequence: cgc (R) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 16 130 L 145 * 16 upper_aerodigestive_tract CDKN2A 1 c.47_50delTGGC p.L16fs*9 length of cdnaseq = 471 length of protseq = 156 47 50 TGGC 4 16 2 17 2 tggc Total no. of codons in cdna seq = 157 ctg gcc start c-t end c-c c-- --c frameshift deletion length of cdnaseq after deletion = 467 ter codon is tag at posn 24 Protein length after deletion = 23 Total no. of codons in del cdnaseq = 156 last codon in array is ga gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) gct (A) gac (D) tgg (W) cca (P) cgg (R) ccg (P) cgg (R) original frameshift length = 9 frameshift length = 9 frameshifted sequence: cca (P) cgg (R) ccg (P) cgg (R) ccc (P) ggg (G) gtc (V) ggg (G) tag (TER) wild type sequence in deletion region: ctg (L) gcc (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 9 16 L 24 * 9 urinary_tract CDKN2A 1 c.231_232delTC p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 231 232 TC 2 77 3 78 1 tc Total no. of codons in cdna seq = 157 act ctc start c-t end c-t ac- -tc frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) gac (D) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) original frameshift length = 42 frameshift length = 42 frameshifted sequence: act (T) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: act (T) ctc (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: act (T) act (T) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 urinary_tract CDKN2A 1 c.271delC p.L91fs*55 length of cdnaseq = 471 length of protseq = 156 271 271 C 1 91 1 91 1 c Total no. of codons in cdna seq = 157 ctg ctg prev c start c-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gag (E) ggc (G) ttc (F) ctg (L) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gag (E) ggc (G) ttc (F) tgg (W) aca (T) cgc (R) tgg (W) original frameshift length = 55 frameshift length = 55 frameshifted sequence: tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 55 91 L 145 * 55 urinary_tract CDKN2A 1 c.276_277delCA p.T93fs*26 length of cdnaseq = 471 length of protseq = 156 276 277 CA 2 92 3 93 1 ca Total no. of codons in cdna seq = 157 gac acg start a-c end a-c ga- -cg frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) ggc (G) ttc (F) ctg (L) gac (D) gct (A) ggt (G) ggt (G) original frameshift length = 27 frameshift length = 27 frameshifted sequence: gac (D) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: gac (D) acg (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gac (D) gac (D) first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 26 93 T 118 * 26 urinary_tract CDKN2A 1 c.350delT p.L117fs*29 length of cdnaseq = 471 length of protseq = 156 350 350 T 1 117 2 117 2 t Total no. of codons in cdna seq = 157 ctg ctg start c-t end t-g c-- --g frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga ccc (P) gtg (V) gac (D) ctg (L) ctg (L) gct (A) gag (E) gag (E) ctg (L) ccc (P) gtg (V) gac (D) cgg (R) ctg (L) agg (R) agc (S) original frameshift length = 29 frameshift length = 29 frameshifted sequence: cgg (R) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 29 117 L 145 * 29 urinary_tract CDKN2A 1 c.157delA p.M53* length of cdnaseq = 471 length of protseq = 156 157 157 A 1 53 1 53 1 a Total no. of codons in cdna seq = 157 atg atg prev g start g-a end a-t --- -tg frameshift deletion length of cdnaseq after deletion = 470 ter codon is tga at posn 53 Protein length after deletion = 52 Total no. of codons in del cdnaseq = 157 last codon in array is ga cag (Q) gtc (V) atg (M) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cag (Q) gtc (V) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 1 53 M 53 * autonomic_ganglia CDKN2A 2 c.246_349del104 p.H83fs*2 length of cdnaseq = 471 length of protseq = 156 246 349 104 104 82 3 117 1 gcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacc Total no. of codons in cdna seq = 157 gtg ctg start t-g end c-t gt- -tg frameshift deletion length of cdnaseq after deletion = 367 ter codon is tga at posn 84 Protein length after deletion = 83 Total no. of codons in del cdnaseq = 123 last codon in array is a acc (T) cga (R) ccc (P) gtg (V) ctg (L) gct (A) gag (E) gag (E) ctg (L) acc (T) cga (R) ccc (P) gtt (V) ggc (G) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gtt (V) ggc (G) tga (TER) wild type sequence in deletion region: gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) wt frameshift deln region length = 36 matching aa in delstart region of wt and deletion mutant: gtg (V) gtt (V) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 2 83 H 84 * 2 central_nervous_system CDKN2A 2 c.47_50delTGGC p.L16fs*9 length of cdnaseq = 471 length of protseq = 156 47 50 TGGC 4 16 2 17 2 tggc Total no. of codons in cdna seq = 157 ctg gcc start c-t end c-c c-- --c frameshift deletion length of cdnaseq after deletion = 467 ter codon is tag at posn 24 Protein length after deletion = 23 Total no. of codons in del cdnaseq = 156 last codon in array is ga gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) gct (A) gac (D) tgg (W) cca (P) cgg (R) ccg (P) cgg (R) original frameshift length = 9 frameshift length = 9 frameshifted sequence: cca (P) cgg (R) ccg (P) cgg (R) ccc (P) ggg (G) gtc (V) ggg (G) tag (TER) wild type sequence in deletion region: ctg (L) gcc (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 9 16 L 24 * 9 lung CDKN2A 2 c.134delG p.G45fs*8 length of cdnaseq = 471 length of protseq = 156 134 134 G 1 45 2 45 2 g Total no. of codons in cdna seq = 157 ggt ggt start g-g end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 470 ter codon is tga at posn 52 Protein length after deletion = 51 Total no. of codons in del cdnaseq = 157 last codon in array is ga aat (N) agt (S) tac (Y) ggt (G) ggt (G) cgg (R) agg (R) ccg (P) atc (I) aat (N) agt (S) tac (Y) gtc (V) gga (G) ggc (G) cga (R) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gtc (V) gga (G) ggc (G) cga (R) tcc (S) agg (R) tca (S) tga (TER) wild type sequence in deletion region: ggt (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 8 45 G 52 * 8 lung CDKN2A 2 c.363delG p.G122fs*24 length of cdnaseq = 471 length of protseq = 156 363 363 G 1 121 3 121 3 g Total no. of codons in cdna seq = 157 ctg ctg start t-g post g end g-g ct- --- frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga gct (A) gag (E) gag (E) ctg (L) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gct (A) gag (E) gag (E) ctg (L) gcc (A) atc (I) gcg (A) original frameshift length = 25 frameshift length = 25 frameshifted sequence: ctg (L) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctg (L) ctg (L) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 24 122 G 145 * 24 oesophagus CDKN2A 2 c.289_289delC p.L97fs*49 length of cdnaseq = 471 length of protseq = 156 289 289 C 1 97 1 97 1 c Total no. of codons in cdna seq = 157 ctg ctg prev g start g-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga ctg (L) gtg (V) gtg (V) ctg (L) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) ctg (L) gtg (V) gtg (V) tgc (C) acc (T) ggg (G) ccg (P) original frameshift length = 49 frameshift length = 49 frameshifted sequence: tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 49 97 L 145 * 49 oesophagus CDKN2A 2 c.310delC p.L104fs*42 length of cdnaseq = 471 length of protseq = 156 310 310 C 1 104 1 104 1 c Total no. of codons in cdna seq = 157 ctg ctg prev g start g-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga ggg (G) gcg (A) cgg (R) ctg (L) ctg (L) gac (D) gtg (V) cgc (R) gat (D) ggg (G) gcg (A) cgg (R) tgg (W) acg (T) tgc (C) gcg (A) original frameshift length = 42 frameshift length = 42 frameshifted sequence: tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 42 104 L 145 * 42 pancreas CDKN2A 2 c.230_231delCT p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 230 231 CT 2 77 2 77 3 ct Total no. of codons in cdna seq = 157 act act start a-c post c end t-c a-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a gac (D) ccc (P) gcc (A) act (T) act (T) ctc (L) acc (T) cga (R) ccc (P) gac (D) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) original frameshift length = 42 frameshift length = 42 frameshifted sequence: act (T) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: act (T) act (T) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 upper_aerodigestive_tract CDKN2A 2 c.160_173del14 p.M54fs*61 length of cdnaseq = 471 length of protseq = 156 160 173 14 14 54 1 58 2 atgggcagcgcccg Total no. of codons in cdna seq = 157 atg cga prev g start g-a end g-a --- --a frameshift deletion length of cdnaseq after deletion = 457 ter codon is tga at posn 114 Protein length after deletion = 113 Total no. of codons in del cdnaseq = 153 last codon in array is a gtc (V) atg (M) atg (M) atg (M) cga (R) gtg (V) gcg (A) gag (E) ctg (L) gtc (V) atg (M) atg (M) agt (S) ggc (G) gga (G) gct (A) original frameshift length = 61 frameshift length = 61 frameshifted sequence: agt (S) ggc (G) gga (G) gct (A) gct (A) gct (A) gct (A) cca (P) cgg (R) cgc (R) gga (G) gcc (A) caa (Q) ctg (L) cgc (R) cga (R) ccc (P) cgc (R) cac (H) tct (S) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: atg (M) ggc (G) agc (S) gcc (A) cga (R) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 61 54 M 114 * 61 upper_aerodigestive_tract CDKN2A 2 c.174_189del16 p.V59fs*82 length of cdnaseq = 471 length of protseq = 156 174 189 16 16 58 3 63 3 agtggcggagctgctg Total no. of codons in cdna seq = 157 cga ctg start g-a post c end g-c cg- --- frameshift deletion length of cdnaseq after deletion = 455 ter codon is tag at posn 140 Protein length after deletion = 139 Total no. of codons in del cdnaseq = 152 last codon in array is ga ggc (G) agc (S) gcc (A) cga (R) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) ggc (G) agc (S) gcc (A) cgc (R) tgc (C) tcc (S) acg (T) original frameshift length = 83 frameshift length = 83 frameshifted sequence: cgc (R) tgc (C) tcc (S) acg (T) gcg (A) cgg (R) agc (S) cca (P) act (T) gcg (A) ccg (P) acc (T) ccg (P) cca (P) ctc (L) tca (S) ccc (P) gac (D) ccg (P) tgc (C) acg (T) acg (T) ctg (L) ccc (P) ggg (G) agg (R) gct (A) tcc (S) tgg (W) aca (T) cgc (R) tgg (W) tgg (W) tgc (C) tgc (C) acc (T) ggg (G) ccg (P) ggg (G) cgc (R) ggc (G) tgg (W) acg (T) tgc (C) gcg (A) atg (M) cct (P) ggg (G) gcc (A) gtc (V) tgc (C) ccg (P) tgg (W) acc (T) tgg (W) ctg (L) agg (R) agc (S) tgg (W) gcc (A) atc (I) gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: cga (R) cgc (R) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 82 59 V 140 * 82 upper_aerodigestive_tract CDKN2A 2 c.233_234delTC p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 233 234 TC 2 78 2 78 3 tc Total no. of codons in cdna seq = 157 ctc ctc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a ccc (P) gcc (A) act (T) ctc (L) ctc (L) acc (T) cga (R) ccc (P) gtg (V) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) cgt (R) original frameshift length = 41 frameshift length = 41 frameshifted sequence: cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 upper_aerodigestive_tract CDKN2A 2 c.370_370delC p.R124fs*22 length of cdnaseq = 471 length of protseq = 156 370 370 C 1 124 1 124 1 c Total no. of codons in cdna seq = 157 cgc cgc prev t start t-c end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 157 last codon in array is ga ctg (L) ggc (G) cat (H) cgc (R) cgc (R) gat (D) gtc (V) gca (A) cgg (R) ctg (L) ggc (G) cat (H) gcg (A) atg (M) tcg (S) cac (H) original frameshift length = 22 frameshift length = 22 frameshifted sequence: gcg (A) atg (M) tcg (S) cac (H) ggt (G) acc (T) tgc (C) gcg (A) cgg (R) ctg (L) cgg (R) ggg (G) gca (A) cca (P) gag (E) gca (A) gta (V) acc (T) atg (M) ccc (P) gca (A) tag (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 22 124 R 145 * 22 upper_aerodigestive_tract CDKN2A 2 c.73_73delG p.V25fs*1 length of cdnaseq = 471 length of protseq = 156 73 73 G 1 25 1 25 1 g Total no. of codons in cdna seq = 157 gta gta prev g start g-g end g-t --- -ta frameshift deletion length of cdnaseq after deletion = 470 ter codon is tag at posn 25 Protein length after deletion = 24 Total no. of codons in del cdnaseq = 157 last codon in array is ga cgg (R) ggt (G) cgg (R) gta (V) gta (V) gag (E) gag (E) gtg (V) cgg (R) cgg (R) ggt (G) cgg (R) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 25 V 25 * 1 pancreas CDKN2A 3 c.231_232delTC p.L78fs*41 length of cdnaseq = 471 length of protseq = 156 231 232 TC 2 77 3 78 1 tc Total no. of codons in cdna seq = 157 act ctc start c-t end c-t ac- -tc frameshift deletion length of cdnaseq after deletion = 469 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 157 last codon in array is a gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) gac (D) ccc (P) gcc (A) act (T) cac (H) ccg (P) acc (T) original frameshift length = 42 frameshift length = 42 frameshifted sequence: act (T) cac (H) ccg (P) acc (T) cgt (R) gca (A) cga (R) cgc (R) tgc (C) ccg (P) gga (G) ggg (G) ctt (L) cct (P) gga (G) cac (H) gct (A) ggt (G) ggt (G) gct (A) gca (A) ccg (P) ggc (G) cgg (R) ggc (G) gcg (A) gct (A) gga (G) cgt (R) gcg (A) cga (R) tgc (C) ctg (L) ggg (G) ccg (P) tct (S) gcc (A) cgt (R) gga (G) cct (P) ggc (G) tga (TER) wild type sequence in deletion region: act (T) ctc (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: act (T) act (T) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 41 78 L 118 * 41 upper_aerodigestive_tract CDKN2A 3 c.383_456del74 p.R128fs*12 length of cdnaseq = 471 length of protseq = 156 383 456 74 74 128 2 152 3 ggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctca Total no. of codons in cdna seq = 157 cgg tca start c-g post g end a-g c-- --- frameshift deletion length of cdnaseq after deletion = 397 Total no. of codons in del cdnaseq = 133 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 132 gat (D) gtc (V) gca (A) cgg (R) tca (S) gac (D) atc (I) ccc (P) gat (D) gat (D) gtc (V) gca (A) cga (R) cat (H) ccc (P) cga (R) original frameshift length = 6 frameshift length = 5 frameshifted sequence: cga (R) cat (H) ccc (P) cga (R) ttg (L) a (end) wild type sequence in deletion region: cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) wt frameshift deln region length = 25 matching aa in delstart region of wt and deletion mutant: cgg (R) cga (R) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 4 128 R 139 * 12 Y R 3 upper_aerodigestive_tract CDKN2A c.383_456del74 p.R128fs*12 haematopoietic_and_lymphoid_tissue CEBPA 1 c.1027_1027delC p.R343fs*17 length of cdnaseq = 1077 length of protseq = 358 1027 1027 C 1 343 1 343 1 c Total no. of codons in cdna seq = 359 cgc cgc prev c start c-c end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 1076 Total no. of codons in del cdnaseq = 359 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 358 ggc (G) atc (I) ttc (F) cgc (R) cgc (R) cag (Q) ctg (L) cca (P) gag (E) ggc (G) atc (I) ttc (F) gcc (A) agc (S) tgc (C) cag (Q) original frameshift length = 17 frameshift length = 16 frameshifted sequence: gcc (A) agc (S) tgc (C) cag (Q) aga (R) gct (A) cct (P) tgg (W) tca (S) agg (R) cca (P) tgg (W) gca (A) act (T) gcg (A) cgt (R) ga (end) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 16 343 R 359 * 17 haematopoietic_and_lymphoid_tissue CEBPA 1 c.1038_1041delAGAG p.P346fs*13 length of cdnaseq = 1077 length of protseq = 358 1038 1041 AGAG 4 346 3 347 3 agag Total no. of codons in cdna seq = 359 cca gag start c-a post a end g-a cc- --- frameshift deletion length of cdnaseq after deletion = 1073 Total no. of codons in del cdnaseq = 358 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 357 cgc (R) cag (Q) ctg (L) cca (P) gag (E) agc (S) tcc (S) ttg (L) gtc (V) cgc (R) cag (Q) ctg (L) cca (P) gct (A) cct (P) tgg (W) original frameshift length = 13 frameshift length = 12 frameshifted sequence: cca (P) gct (A) cct (P) tgg (W) tca (S) agg (R) cca (P) tgg (W) gca (A) act (T) gcg (A) cgt (R) ga (end) wild type sequence in deletion region: cca (P) gag (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cca (P) cca (P) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 11 346 P 358 * 13 E P 1 haematopoietic_and_lymphoid_tissue CEBPA c.1038_1041delAGAG p.P346fs*13 haematopoietic_and_lymphoid_tissue CEBPA 1 c.106_130del25 p.G36fs*116 length of cdnaseq = 1077 length of protseq = 358 106 130 25 25 36 1 44 1 ggcgcgggccccgcgcagcctcccg Total no. of codons in cdna seq = 359 ggc gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1052 ter codon is tga at posn 151 Protein length after deletion = 150 Total no. of codons in del cdnaseq = 351 last codon in array is ga ttt (F) ccc (P) cgg (R) ggc (G) gcc (A) cca (P) cct (P) gcc (A) gcc (A) ttt (F) ccc (P) cgg (R) ccc (P) cac (H) ctg (L) ccg (P) original frameshift length = 116 frameshift length = 116 frameshifted sequence: ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) gcg (A) ggc (G) ccc (P) gcg (A) cag (Q) cct (P) ccc (P) gcc (A) wt frameshift deln region length = 9 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 116 36 G 151 * 116 haematopoietic_and_lymphoid_tissue CEBPA 1 c.115_121delCCCGCGC p.P39fs*119 length of cdnaseq = 1077 length of protseq = 358 115 121 CCCGCGC 7 39 1 41 1 cccgcgc Total no. of codons in cdna seq = 359 ccc cag prev c start c-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 1070 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 357 last codon in array is ga ggc (G) gcg (A) ggc (G) ccc (P) cag (Q) cct (P) ccc (P) gcc (A) cca (P) ggc (G) gcg (A) ggc (G) agc (S) ctc (L) ccg (P) ccc (P) original frameshift length = 119 frameshift length = 119 frameshifted sequence: agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccc (P) gcg (A) cag (Q) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 119 39 P 157 * 119 haematopoietic_and_lymphoid_tissue CEBPA 1 c.124_124delC p.P42fs*118 length of cdnaseq = 1077 length of protseq = 358 124 124 C 1 42 1 42 1 c Total no. of codons in cdna seq = 359 cct cct prev g start g-c end c-c --- -ct frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga ccc (P) gcg (A) cag (Q) cct (P) cct (P) ccc (P) gcc (A) cca (P) cct (P) ccc (P) gcg (A) cag (Q) ctc (L) ccg (P) ccc (P) cac (H) original frameshift length = 118 frameshift length = 118 frameshifted sequence: ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 118 42 P 159 * 118 haematopoietic_and_lymphoid_tissue CEBPA 1 c.130_130delG p.A44fs*116 length of cdnaseq = 1077 length of protseq = 358 130 130 G 1 44 1 44 1 g Total no. of codons in cdna seq = 359 gcc gcc prev c start c-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga cag (Q) cct (P) ccc (P) gcc (A) gcc (A) cca (P) cct (P) gcc (A) gcc (A) cag (Q) cct (P) ccc (P) ccc (P) cac (H) ctg (L) ccg (P) original frameshift length = 116 frameshift length = 116 frameshifted sequence: ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 116 44 A 159 * 116 haematopoietic_and_lymphoid_tissue CEBPA 1 c.134_134delC p.P45fs*115 length of cdnaseq = 1077 length of protseq = 358 134 134 C 1 45 2 45 2 c Total no. of codons in cdna seq = 359 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga cct (P) ccc (P) gcc (A) cca (P) cca (P) cct (P) gcc (A) gcc (A) ccg (P) cct (P) ccc (P) gcc (A) cac (H) ctg (L) ccg (P) ccc (P) original frameshift length = 115 frameshift length = 115 frameshifted sequence: cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 115 45 P 159 * 115 haematopoietic_and_lymphoid_tissue CEBPA 1 c.135_138delACCT p.A47fs*112 length of cdnaseq = 1077 length of protseq = 358 135 138 ACCT 4 45 3 46 3 acct Total no. of codons in cdna seq = 359 cca cct start c-a post g end t-g cc- --- frameshift deletion length of cdnaseq after deletion = 1073 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 358 last codon in array is ga cct (P) ccc (P) gcc (A) cca (P) cct (P) gcc (A) gcc (A) ccg (P) gag (E) cct (P) ccc (P) gcc (A) ccg (P) ccg (P) ccc (P) cgg (R) original frameshift length = 114 frameshift length = 114 frameshifted sequence: ccg (P) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: cca (P) cct (P) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cca (P) ccg (P) matching aa in delstart region of wt and deletion mutant: cct (P) ccg (P) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 112 47 A 158 * 112 haematopoietic_and_lymphoid_tissue CEBPA 1 c.135_156del22 p.P46fs*107 length of cdnaseq = 1077 length of protseq = 358 135 156 22 22 45 3 52 3 acctgccgccccggagccgctg Total no. of codons in cdna seq = 359 cca ctg start c-a post g end g-g cc- --- frameshift deletion length of cdnaseq after deletion = 1055 ter codon is tga at posn 152 Protein length after deletion = 151 Total no. of codons in del cdnaseq = 352 last codon in array is ga cct (P) ccc (P) gcc (A) cca (P) ctg (L) ggc (G) ggc (G) atc (I) tgc (C) cct (P) ccc (P) gcc (A) ccg (P) gcg (A) gca (A) tct (S) original frameshift length = 108 frameshift length = 108 frameshifted sequence: ccg (P) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: cca (P) cct (P) gcc (A) gcc (A) ccg (P) gag (E) ccg (P) ctg (L) wt frameshift deln region length = 8 matching aa in delstart region of wt and deletion mutant: cca (P) ccg (P) first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 107 46 P 152 * 107 haematopoietic_and_lymphoid_tissue CEBPA 1 c.139_139delG p.A47fs*113 length of cdnaseq = 1077 length of protseq = 358 139 139 G 1 47 1 47 1 g Total no. of codons in cdna seq = 359 gcc gcc prev t start t-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga gcc (A) cca (P) cct (P) gcc (A) gcc (A) gcc (A) ccg (P) gag (E) ccg (P) gcc (A) cca (P) cct (P) ccg (P) ccc (P) cgg (R) agc (S) original frameshift length = 113 frameshift length = 113 frameshifted sequence: ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 113 47 A 159 * 113 haematopoietic_and_lymphoid_tissue CEBPA 1 c.144_154del11 p.P49fs*55 length of cdnaseq = 1077 length of protseq = 358 144 154 11 11 48 3 52 1 cccggagccgc Total no. of codons in cdna seq = 359 gcc ctg start c-c end c-t gc- -tg frameshift deletion length of cdnaseq after deletion = 1066 ter codon is tga at posn 103 Protein length after deletion = 102 Total no. of codons in del cdnaseq = 356 last codon in array is a cca (P) cct (P) gcc (A) gcc (A) ctg (L) ggc (G) ggc (G) atc (I) tgc (C) cca (P) cct (P) gcc (A) gct (A) ggg (G) cgg (R) cat (H) original frameshift length = 56 frameshift length = 56 frameshifted sequence: gct (A) ggg (G) cgg (R) cat (H) ctg (L) cga (R) gca (A) cga (R) gac (D) gtc (V) cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: gcc (A) ccg (P) gag (E) ccg (P) ctg (L) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: gcc (A) gct (A) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 55 49 P 103 * 55 haematopoietic_and_lymphoid_tissue CEBPA 1 c.161_180del20 p.G54fs*47 length of cdnaseq = 1077 length of protseq = 358 161 180 20 20 54 2 60 3 gcatctgcgagcacgagacg Total no. of codons in cdna seq = 359 ggc acg start g-g post t end g-t g-- --- frameshift deletion length of cdnaseq after deletion = 1057 ter codon is tga at posn 100 Protein length after deletion = 99 Total no. of codons in del cdnaseq = 353 last codon in array is a ccg (P) ctg (L) ggc (G) ggc (G) acg (T) tcc (S) atc (I) gac (D) atc (I) ccg (P) ctg (L) ggc (G) gtc (V) cat (H) cga (R) cat (H) original frameshift length = 47 frameshift length = 47 frameshifted sequence: gtc (V) cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: ggc (G) atc (I) tgc (C) gag (E) cac (H) gag (E) acg (T) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 47 54 G 100 * 47 haematopoietic_and_lymphoid_tissue CEBPA 1 c.172_182del11 p.E59fs*45 length of cdnaseq = 1077 length of protseq = 358 172 182 11 11 58 1 61 2 cacgagacgtc Total no. of codons in cdna seq = 359 cac tcc prev g start g-c end c-c --- --c frameshift deletion length of cdnaseq after deletion = 1066 ter codon is tga at posn 103 Protein length after deletion = 102 Total no. of codons in del cdnaseq = 356 last codon in array is a atc (I) tgc (C) gag (E) cac (H) tcc (S) atc (I) gac (D) atc (I) agc (S) atc (I) tgc (C) gag (E) cat (H) cga (R) cat (H) cag (Q) original frameshift length = 46 frameshift length = 46 frameshifted sequence: cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: cac (H) gag (E) acg (T) tcc (S) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: cac (H) cat (H) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 45 59 E 103 * 45 haematopoietic_and_lymphoid_tissue CEBPA 1 c.175_182delGAGACGTC p.E59fs*46 length of cdnaseq = 1077 length of protseq = 358 175 182 GAGACGTC 8 59 1 61 2 gagacgtc Total no. of codons in cdna seq = 359 gag tcc prev c start c-g end c-c --- --c frameshift deletion length of cdnaseq after deletion = 1069 ter codon is tga at posn 104 Protein length after deletion = 103 Total no. of codons in del cdnaseq = 357 last codon in array is a tgc (C) gag (E) cac (H) gag (E) tcc (S) atc (I) gac (D) atc (I) agc (S) tgc (C) gag (E) cac (H) cat (H) cga (R) cat (H) cag (Q) original frameshift length = 46 frameshift length = 46 frameshifted sequence: cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: gag (E) acg (T) tcc (S) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 46 59 E 104 * 46 haematopoietic_and_lymphoid_tissue CEBPA 1 c.176_180delAGACG p.E59fs*47 length of cdnaseq = 1077 length of protseq = 358 176 180 AGACG 5 59 2 60 3 agacg Total no. of codons in cdna seq = 359 gag acg start g-a post t end g-t g-- --- frameshift deletion length of cdnaseq after deletion = 1072 ter codon is tga at posn 105 Protein length after deletion = 104 Total no. of codons in del cdnaseq = 358 last codon in array is a tgc (C) gag (E) cac (H) gag (E) acg (T) tcc (S) atc (I) gac (D) atc (I) tgc (C) gag (E) cac (H) gtc (V) cat (H) cga (R) cat (H) original frameshift length = 47 frameshift length = 47 frameshifted sequence: gtc (V) cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: gag (E) acg (T) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 47 59 E 105 * 47 haematopoietic_and_lymphoid_tissue CEBPA 1 c.177_184delGACGTCCA p.E59fs*46 length of cdnaseq = 1077 length of protseq = 358 177 184 GACGTCCA 8 59 3 62 1 gacgtcca Total no. of codons in cdna seq = 359 gag atc start a-g end a-t ga- -tc frameshift deletion length of cdnaseq after deletion = 1069 ter codon is tga at posn 104 Protein length after deletion = 103 Total no. of codons in del cdnaseq = 357 last codon in array is a tgc (C) gag (E) cac (H) gag (E) atc (I) gac (D) atc (I) agc (S) gcc (A) tgc (C) gag (E) cac (H) gat (D) cga (R) cat (H) cag (Q) original frameshift length = 46 frameshift length = 46 frameshifted sequence: gat (D) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: gag (E) acg (T) tcc (S) atc (I) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 46 59 E 104 * 46 haematopoietic_and_lymphoid_tissue CEBPA 1 c.177_186del10 p.I62fs*95 length of cdnaseq = 1077 length of protseq = 358 177 186 10 10 59 3 62 3 gacgtccatc Total no. of codons in cdna seq = 359 gag atc start a-g post g end c-g ga- --- frameshift deletion length of cdnaseq after deletion = 1067 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 356 last codon in array is ga tgc (C) gag (E) cac (H) gag (E) atc (I) gac (D) atc (I) agc (S) gcc (A) tgc (C) gag (E) cac (H) gag (E) aca (T) tca (S) gcg (A) original frameshift length = 98 frameshift length = 98 frameshifted sequence: gag (E) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gag (E) acg (T) tcc (S) atc (I) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) matching aa in delstart region of wt and deletion mutant: acg (T) aca (T) matching aa in delstart region of wt and deletion mutant: tcc (S) tca (S) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 95 62 I 156 * 95 haematopoietic_and_lymphoid_tissue CEBPA 1 c.180_189del10 p.I62fs*95 length of cdnaseq = 1077 length of protseq = 358 180 189 10 10 60 3 63 3 gtccatcgac Total no. of codons in cdna seq = 359 acg gac start c-g post a end c-a ac- --- frameshift deletion length of cdnaseq after deletion = 1067 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 356 last codon in array is ga gag (E) cac (H) gag (E) acg (T) gac (D) atc (I) agc (S) gcc (A) tac (Y) gag (E) cac (H) gag (E) aca (T) tca (S) gcg (A) cct (P) original frameshift length = 97 frameshift length = 97 frameshifted sequence: aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: acg (T) tcc (S) atc (I) gac (D) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: acg (T) aca (T) matching aa in delstart region of wt and deletion mutant: tcc (S) tca (S) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 95 62 I 156 * 95 haematopoietic_and_lymphoid_tissue CEBPA 1 c.181_190del10 p.I62fs*95 length of cdnaseq = 1077 length of protseq = 358 181 190 10 10 61 1 64 1 tccatcgaca Total no. of codons in cdna seq = 359 tcc atc prev g start g-t end a-t --- -tc frameshift deletion length of cdnaseq after deletion = 1067 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 356 last codon in array is ga cac (H) gag (E) acg (T) tcc (S) atc (I) agc (S) gcc (A) tac (Y) atc (I) cac (H) gag (E) acg (T) tca (S) gcg (A) cct (P) aca (T) original frameshift length = 96 frameshift length = 96 frameshifted sequence: tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: tcc (S) atc (I) gac (D) atc (I) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: tcc (S) tca (S) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 95 62 I 156 * 95 haematopoietic_and_lymphoid_tissue CEBPA 1 c.181_194del14 p.S61fs*42 length of cdnaseq = 1077 length of protseq = 358 181 194 14 14 61 1 65 2 tccatcgacatcag Total no. of codons in cdna seq = 359 tcc agc prev g start g-t end g-c --- --c frameshift deletion length of cdnaseq after deletion = 1063 ter codon is tga at posn 102 Protein length after deletion = 101 Total no. of codons in del cdnaseq = 355 last codon in array is a cac (H) gag (E) acg (T) tcc (S) agc (S) gcc (A) tac (Y) atc (I) gac (D) cac (H) gag (E) acg (T) cgc (R) cta (L) cat (H) cga (R) original frameshift length = 42 frameshift length = 42 frameshifted sequence: cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: tcc (S) atc (I) gac (D) atc (I) agc (S) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 42 61 S 102 * 42 haematopoietic_and_lymphoid_tissue CEBPA 1 c.181_214del34 p.S61fs*88 length of cdnaseq = 1077 length of protseq = 358 181 214 34 34 61 1 72 1 tccatcgacatcagcgcctacatcgacccggccg Total no. of codons in cdna seq = 359 tcc gcc prev g start g-t end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1043 ter codon is tga at posn 148 Protein length after deletion = 147 Total no. of codons in del cdnaseq = 348 last codon in array is ga cac (H) gag (E) acg (T) tcc (S) gcc (A) ttc (F) aac (N) gac (D) gag (E) cac (H) gag (E) acg (T) cct (P) tca (S) acg (T) acg (T) original frameshift length = 88 frameshift length = 88 frameshifted sequence: cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: tcc (S) atc (I) gac (D) atc (I) agc (S) gcc (A) tac (Y) atc (I) gac (D) ccg (P) gcc (A) gcc (A) wt frameshift deln region length = 12 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 88 61 S 148 * 88 haematopoietic_and_lymphoid_tissue CEBPA 1 c.189_190delCA p.I64fs*43 length of cdnaseq = 1077 length of protseq = 358 189 190 CA 2 63 3 64 1 ca Total no. of codons in cdna seq = 359 gac atc start a-c end a-t ga- -tc frameshift deletion length of cdnaseq after deletion = 1075 ter codon is tga at posn 106 Protein length after deletion = 105 Total no. of codons in del cdnaseq = 359 last codon in array is a acg (T) tcc (S) atc (I) gac (D) atc (I) agc (S) gcc (A) tac (Y) atc (I) acg (T) tcc (S) atc (I) gat (D) cag (Q) cgc (R) cta (L) original frameshift length = 44 frameshift length = 44 frameshifted sequence: gat (D) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: gac (D) atc (I) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gac (D) gat (D) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 43 64 I 106 * 43 haematopoietic_and_lymphoid_tissue CEBPA 1 c.198_198delC p.Y67fs*93 length of cdnaseq = 1077 length of protseq = 358 198 198 C 1 66 3 66 3 c Total no. of codons in cdna seq = 359 gcc gcc start c-c post t end c-t gc- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga gac (D) atc (I) agc (S) gcc (A) gcc (A) tac (Y) atc (I) gac (D) ccg (P) gac (D) atc (I) agc (S) gct (A) aca (T) tcg (S) acc (T) original frameshift length = 94 frameshift length = 94 frameshifted sequence: gct (A) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gct (A) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 93 67 Y 159 * 93 haematopoietic_and_lymphoid_tissue CEBPA 1 c.198_201delCTAC p.Y67fs*92 length of cdnaseq = 1077 length of protseq = 358 198 201 CTAC 4 66 3 67 3 ctac Total no. of codons in cdna seq = 359 gcc tac start c-c post a end c-a gc- --- frameshift deletion length of cdnaseq after deletion = 1073 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 358 last codon in array is ga gac (D) atc (I) agc (S) gcc (A) tac (Y) atc (I) gac (D) ccg (P) gcc (A) gac (D) atc (I) agc (S) gca (A) tcg (S) acc (T) cgg (R) original frameshift length = 93 frameshift length = 93 frameshifted sequence: gca (A) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gcc (A) tac (Y) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 92 67 Y 158 * 92 haematopoietic_and_lymphoid_tissue CEBPA 1 c.201_202delCA p.I68fs*39 length of cdnaseq = 1077 length of protseq = 358 201 202 CA 2 67 3 68 1 ca Total no. of codons in cdna seq = 359 tac atc start a-c end a-t ta- -tc frameshift deletion length of cdnaseq after deletion = 1075 ter codon is tga at posn 106 Protein length after deletion = 105 Total no. of codons in del cdnaseq = 359 last codon in array is a atc (I) agc (S) gcc (A) tac (Y) atc (I) gac (D) ccg (P) gcc (A) gcc (A) atc (I) agc (S) gcc (A) tat (Y) cga (R) ccc (P) ggc (G) original frameshift length = 40 frameshift length = 40 frameshifted sequence: tat (Y) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: tac (Y) atc (I) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tac (Y) tat (Y) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 39 68 I 106 * 39 haematopoietic_and_lymphoid_tissue CEBPA 1 c.207_207delC p.P70fs*90 length of cdnaseq = 1077 length of protseq = 358 207 207 C 1 69 3 69 3 c Total no. of codons in cdna seq = 359 gac gac start a-c post c end c-c ga- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga gcc (A) tac (Y) atc (I) gac (D) gac (D) ccg (P) gcc (A) gcc (A) ttc (F) gcc (A) tac (Y) atc (I) gac (D) cgg (R) ccg (P) cct (P) original frameshift length = 91 frameshift length = 91 frameshifted sequence: gac (D) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gac (D) gac (D) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 90 70 P 159 * 90 haematopoietic_and_lymphoid_tissue CEBPA 1 c.207_210delCCCG p.D69fs*90 length of cdnaseq = 1077 length of protseq = 358 207 210 CCCG 4 69 3 70 3 cccg Total no. of codons in cdna seq = 359 gac ccg start a-c post g end g-g ga- --- frameshift deletion length of cdnaseq after deletion = 1073 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 358 last codon in array is ga gcc (A) tac (Y) atc (I) gac (D) ccg (P) gcc (A) gcc (A) ttc (F) aac (N) gcc (A) tac (Y) atc (I) gag (E) ccg (P) cct (P) tca (S) original frameshift length = 90 frameshift length = 90 frameshifted sequence: gag (E) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gac (D) ccg (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 90 69 D 158 * 90 haematopoietic_and_lymphoid_tissue CEBPA 1 c.208_208delC p.P70fs*90 length of cdnaseq = 1077 length of protseq = 358 208 208 C 1 70 1 70 1 c Total no. of codons in cdna seq = 359 ccg ccg prev c start c-c end c-c --- -cg frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga tac (Y) atc (I) gac (D) ccg (P) ccg (P) gcc (A) gcc (A) ttc (F) aac (N) tac (Y) atc (I) gac (D) cgg (R) ccg (P) cct (P) tca (S) original frameshift length = 90 frameshift length = 90 frameshifted sequence: cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 90 70 P 159 * 90 haematopoietic_and_lymphoid_tissue CEBPA 1 c.209_209delC p.P70fs*90 length of cdnaseq = 1077 length of protseq = 358 209 209 C 1 70 2 70 2 c Total no. of codons in cdna seq = 359 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga tac (Y) atc (I) gac (D) ccg (P) ccg (P) gcc (A) gcc (A) ttc (F) aac (N) tac (Y) atc (I) gac (D) cgg (R) ccg (P) cct (P) tca (S) original frameshift length = 90 frameshift length = 90 frameshifted sequence: cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 90 70 P 159 * 90 haematopoietic_and_lymphoid_tissue CEBPA 1 c.219_231del13 p.N74fs*82 length of cdnaseq = 1077 length of protseq = 358 219 231 13 13 73 3 77 3 caacgacgagttc Total no. of codons in cdna seq = 359 ttc ttc start t-c post c end c-c tt- --- frameshift deletion length of cdnaseq after deletion = 1064 ter codon is tga at posn 155 Protein length after deletion = 154 Total no. of codons in del cdnaseq = 355 last codon in array is ga ccg (P) gcc (A) gcc (A) ttc (F) ttc (F) ctg (L) gcc (A) gac (D) ctg (L) ccg (P) gcc (A) gcc (A) ttc (F) tgg (W) ccg (P) acc (T) original frameshift length = 83 frameshift length = 83 frameshifted sequence: ttc (F) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ttc (F) aac (N) gac (D) gag (E) ttc (F) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: ttc (F) ttc (F) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 82 74 N 155 * 82 haematopoietic_and_lymphoid_tissue CEBPA 1 c.230_233delTCCT p.F77fs*82 length of cdnaseq = 1077 length of protseq = 358 230 233 TCCT 4 77 2 78 2 tcct Total no. of codons in cdna seq = 359 ttc ctg start t-t end t-g t-- --g frameshift deletion length of cdnaseq after deletion = 1073 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 358 last codon in array is ga aac (N) gac (D) gag (E) ttc (F) ctg (L) gcc (A) gac (D) ctg (L) ttc (F) aac (N) gac (D) gag (E) tgg (W) ccg (P) acc (T) tgt (C) original frameshift length = 82 frameshift length = 82 frameshifted sequence: tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ttc (F) ctg (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 82 77 F 158 * 82 haematopoietic_and_lymphoid_tissue CEBPA 1 c.233_233delT p.L78fs*82 length of cdnaseq = 1077 length of protseq = 358 233 233 T 1 78 2 78 2 t Total no. of codons in cdna seq = 359 ctg ctg start c-t end t-g c-- --g frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga gac (D) gag (E) ttc (F) ctg (L) ctg (L) gcc (A) gac (D) ctg (L) ttc (F) gac (D) gag (E) ttc (F) cgg (R) ccg (P) acc (T) tgt (C) original frameshift length = 82 frameshift length = 82 frameshifted sequence: cgg (R) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 82 78 L 159 * 82 haematopoietic_and_lymphoid_tissue CEBPA 1 c.238_247del10 p.D80fs*77 length of cdnaseq = 1077 length of protseq = 358 238 247 10 10 80 1 83 1 gacctgttcc Total no. of codons in cdna seq = 359 gac cag prev c start c-g end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 1067 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 356 last codon in array is ga ttc (F) ctg (L) gcc (A) gac (D) cag (Q) cac (H) agc (S) cgg (R) cag (Q) ttc (F) ctg (L) gcc (A) agc (S) aca (T) gcc (A) ggc (G) original frameshift length = 77 frameshift length = 77 frameshifted sequence: agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gac (D) ctg (L) ttc (F) cag (Q) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 77 80 D 156 * 77 haematopoietic_and_lymphoid_tissue CEBPA 1 c.242_248delTGTTCCA p.L81fs*77 length of cdnaseq = 1077 length of protseq = 358 242 248 TGTTCCA 7 81 2 83 2 tgttcca Total no. of codons in cdna seq = 359 ctg cag start c-t end a-g c-- --g frameshift deletion length of cdnaseq after deletion = 1070 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 357 last codon in array is ga ctg (L) gcc (A) gac (D) ctg (L) cag (Q) cac (H) agc (S) cgg (R) cag (Q) ctg (L) gcc (A) gac (D) cgc (R) aca (T) gcc (A) ggc (G) original frameshift length = 77 frameshift length = 77 frameshifted sequence: cgc (R) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ctg (L) ttc (F) cag (Q) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 77 81 L 157 * 77 haematopoietic_and_lymphoid_tissue CEBPA 1 c.265_265delG p.E89fs*71 length of cdnaseq = 1077 length of protseq = 358 265 265 G 1 89 1 89 1 g Total no. of codons in cdna seq = 359 gag gag prev g start g-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga cgg (R) cag (Q) cag (Q) gag (E) gag (E) aag (K) gcc (A) aag (K) gcg (A) cgg (R) cag (Q) cag (Q) aga (R) agg (R) cca (P) agg (R) original frameshift length = 71 frameshift length = 71 frameshifted sequence: aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 71 89 E 159 * 71 haematopoietic_and_lymphoid_tissue CEBPA 1 c.277_277delG p.A93fs*67 length of cdnaseq = 1077 length of protseq = 358 277 277 G 1 93 1 93 1 g Total no. of codons in cdna seq = 359 gcg gcg prev g start g-g end g-c --- -cg frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga aag (K) gcc (A) aag (K) gcg (A) gcg (A) gcc (A) gtg (V) ggc (G) ccc (P) aag (K) gcc (A) aag (K) cgg (R) ccg (P) tgg (W) gcc (A) original frameshift length = 67 frameshift length = 67 frameshifted sequence: cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gcg (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 67 93 A 159 * 67 haematopoietic_and_lymphoid_tissue CEBPA 1 c.287_287delG p.G96fs*64 length of cdnaseq = 1077 length of protseq = 358 287 287 G 1 96 2 96 2 g Total no. of codons in cdna seq = 359 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga gcg (A) gcc (A) gtg (V) ggc (G) ggc (G) ccc (P) acg (T) ggc (G) ggc (G) gcg (A) gcc (A) gtg (V) gcc (A) cca (P) cgg (R) gcg (A) original frameshift length = 64 frameshift length = 64 frameshifted sequence: gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 64 96 G 159 * 64 haematopoietic_and_lymphoid_tissue CEBPA 1 c.287_290delGCCC p.G96fs*63 length of cdnaseq = 1077 length of protseq = 358 287 290 GCCC 4 96 2 97 2 gccc Total no. of codons in cdna seq = 359 ggc ccc start g-g end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 1073 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 358 last codon in array is ga gcg (A) gcc (A) gtg (V) ggc (G) ccc (P) acg (T) ggc (G) ggc (G) ggc (G) gcg (A) gcc (A) gtg (V) gca (A) cgg (R) gcg (A) gcg (A) original frameshift length = 63 frameshift length = 63 frameshifted sequence: gca (A) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) ccc (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 63 96 G 158 * 63 haematopoietic_and_lymphoid_tissue CEBPA 1 c.287_311del25 p.G96fs*56 length of cdnaseq = 1077 length of protseq = 358 287 311 25 25 96 2 104 2 gccccacgggcggcggcggcggcgg Total no. of codons in cdna seq = 359 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 1052 ter codon is tga at posn 151 Protein length after deletion = 150 Total no. of codons in del cdnaseq = 351 last codon in array is ga gcg (A) gcc (A) gtg (V) ggc (G) ggc (G) gac (D) ttt (F) gac (D) tac (Y) gcg (A) gcc (A) gtg (V) gcg (A) act (T) ttg (L) act (T) original frameshift length = 56 frameshift length = 56 frameshifted sequence: gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) ccc (P) acg (T) ggc (G) ggc (G) ggc (G) ggc (G) ggc (G) ggc (G) wt frameshift deln region length = 9 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 56 96 G 151 * 56 haematopoietic_and_lymphoid_tissue CEBPA 1 c.288_312del25 p.P97fs*55 length of cdnaseq = 1077 length of protseq = 358 288 312 25 25 96 3 104 3 ccccacgggcggcggcggcggcggc Total no. of codons in cdna seq = 359 ggc ggc start g-c post g end c-g gg- --- frameshift deletion length of cdnaseq after deletion = 1052 ter codon is tga at posn 151 Protein length after deletion = 150 Total no. of codons in del cdnaseq = 351 last codon in array is ga gcg (A) gcc (A) gtg (V) ggc (G) ggc (G) gac (D) ttt (F) gac (D) tac (Y) gcg (A) gcc (A) gtg (V) ggg (G) act (T) ttg (L) act (T) original frameshift length = 56 frameshift length = 56 frameshifted sequence: ggg (G) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) ccc (P) acg (T) ggc (G) ggc (G) ggc (G) ggc (G) ggc (G) ggc (G) wt frameshift deln region length = 9 matching aa in delstart region of wt and deletion mutant: ggc (G) ggg (G) first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 55 97 P 151 * 55 haematopoietic_and_lymphoid_tissue CEBPA 1 c.329_335delGCGCGCC p.G110fs*48 length of cdnaseq = 1077 length of protseq = 358 329 335 GCGCGCC 7 110 2 112 2 gcgcgcc Total no. of codons in cdna seq = 359 ggc ccc start g-g end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 1070 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 357 last codon in array is ga gac (D) tac (Y) ccg (P) ggc (G) ccc (P) gcg (A) ggc (G) ccc (P) ggc (G) gac (D) tac (Y) ccg (P) gcg (A) cgg (R) gcc (A) ccg (P) original frameshift length = 48 frameshift length = 48 frameshifted sequence: gcg (A) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) gcg (A) ccc (P) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 48 110 G 157 * 48 haematopoietic_and_lymphoid_tissue CEBPA 1 c.329_336delGCGCGCCC p.A111fs*56 length of cdnaseq = 1077 length of protseq = 358 329 336 GCGCGCCC 8 110 2 112 3 gcgcgccc Total no. of codons in cdna seq = 359 ggc ccc start g-g post g end c-g g-- --- frameshift deletion length of cdnaseq after deletion = 1069 ter codon is tga at posn 166 Protein length after deletion = 165 Total no. of codons in del cdnaseq = 357 last codon in array is a gac (D) tac (Y) ccg (P) ggc (G) ccc (P) gcg (A) ggc (G) ccc (P) ggc (G) gac (D) tac (Y) ccg (P) ggc (G) ggg (G) ccc (P) cgg (R) original frameshift length = 57 frameshift length = 57 frameshifted sequence: ggc (G) ggg (G) ccc (P) cgg (R) cgg (R) cgc (R) cgt (R) cat (H) gcc (A) cgg (R) ggg (G) agc (S) gca (A) cgg (R) gcc (A) ccc (P) gcc (A) cgg (R) cta (L) cgg (R) ctg (L) cgc (R) ggc (G) cgc (R) cgg (R) cta (L) cct (P) gga (G) cgg (R) cag (Q) gct (A) gga (G) gcc (A) cct (P) gta (V) cga (R) gcg (A) cgt (R) cgg (R) ggc (G) gcc (A) ggc (G) gct (A) gcg (A) gcc (A) gct (A) ggt (G) gat (D) caa (Q) gca (A) gga (G) gcc (A) ccg (P) cga (R) gga (G) gga (G) tga (TER) wild type sequence in deletion region: ggc (G) gcg (A) ccc (P) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ggc (G) ggc (G) first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 56 111 A 166 * 56 haematopoietic_and_lymphoid_tissue CEBPA 1 c.332_339delCGCCCGCG p.A111fs*56 length of cdnaseq = 1077 length of protseq = 358 332 339 CGCCCGCG 8 111 2 113 3 cgcccgcg Total no. of codons in cdna seq = 359 gcg gcg start g-c post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 1069 ter codon is tga at posn 166 Protein length after deletion = 165 Total no. of codons in del cdnaseq = 357 last codon in array is a tac (Y) ccg (P) ggc (G) gcg (A) gcg (A) ggc (G) ccc (P) ggc (G) ggc (G) tac (Y) ccg (P) ggc (G) ggg (G) ccc (P) cgg (R) cgg (R) original frameshift length = 56 frameshift length = 56 frameshifted sequence: ggg (G) ccc (P) cgg (R) cgg (R) cgc (R) cgt (R) cat (H) gcc (A) cgg (R) ggg (G) agc (S) gca (A) cgg (R) gcc (A) ccc (P) gcc (A) cgg (R) cta (L) cgg (R) ctg (L) cgc (R) ggc (G) cgc (R) cgg (R) cta (L) cct (P) gga (G) cgg (R) cag (Q) gct (A) gga (G) gcc (A) cct (P) gta (V) cga (R) gcg (A) cgt (R) cgg (R) ggc (G) gcc (A) ggc (G) gct (A) gcg (A) gcc (A) gct (A) ggt (G) gat (D) caa (Q) gca (A) gga (G) gcc (A) ccg (P) cga (R) gga (G) gga (G) tga (TER) wild type sequence in deletion region: gcg (A) ccc (P) gcg (A) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 56 111 A 166 * 56 haematopoietic_and_lymphoid_tissue CEBPA 1 c.332_342del11 p.P112fs*54 length of cdnaseq = 1077 length of protseq = 358 332 342 11 11 111 2 114 3 cgcccgcgggc Total no. of codons in cdna seq = 359 gcg ggc start g-c post c end c-c g-- --- frameshift deletion length of cdnaseq after deletion = 1066 ter codon is tga at posn 165 Protein length after deletion = 164 Total no. of codons in del cdnaseq = 356 last codon in array is a tac (Y) ccg (P) ggc (G) gcg (A) ggc (G) ccc (P) ggc (G) ggc (G) gcc (A) tac (Y) ccg (P) ggc (G) gcc (A) cgg (R) cgg (R) cgc (R) original frameshift length = 55 frameshift length = 55 frameshifted sequence: gcc (A) cgg (R) cgg (R) cgc (R) cgt (R) cat (H) gcc (A) cgg (R) ggg (G) agc (S) gca (A) cgg (R) gcc (A) ccc (P) gcc (A) cgg (R) cta (L) cgg (R) ctg (L) cgc (R) ggc (G) cgc (R) cgg (R) cta (L) cct (P) gga (G) cgg (R) cag (Q) gct (A) gga (G) gcc (A) cct (P) gta (V) cga (R) gcg (A) cgt (R) cgg (R) ggc (G) gcc (A) ggc (G) gct (A) gcg (A) gcc (A) gct (A) ggt (G) gat (D) caa (Q) gca (A) gga (G) gcc (A) ccg (P) cga (R) gga (G) gga (G) tga (TER) wild type sequence in deletion region: gcg (A) ccc (P) gcg (A) ggc (G) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: gcg (A) gcc (A) first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 54 112 P 165 * 54 haematopoietic_and_lymphoid_tissue CEBPA 1 c.333_343del11 p.P112fs*54 length of cdnaseq = 1077 length of protseq = 358 333 343 11 11 111 3 115 1 gcccgcgggcc Total no. of codons in cdna seq = 359 gcg ccc start c-g end c-c gc- -cc frameshift deletion length of cdnaseq after deletion = 1066 ter codon is tga at posn 165 Protein length after deletion = 164 Total no. of codons in del cdnaseq = 356 last codon in array is a tac (Y) ccg (P) ggc (G) gcg (A) ccc (P) ggc (G) ggc (G) gcc (A) gtc (V) tac (Y) ccg (P) ggc (G) gcc (A) cgg (R) cgg (R) cgc (R) original frameshift length = 55 frameshift length = 55 frameshifted sequence: gcc (A) cgg (R) cgg (R) cgc (R) cgt (R) cat (H) gcc (A) cgg (R) ggg (G) agc (S) gca (A) cgg (R) gcc (A) ccc (P) gcc (A) cgg (R) cta (L) cgg (R) ctg (L) cgc (R) ggc (G) cgc (R) cgg (R) cta (L) cct (P) gga (G) cgg (R) cag (Q) gct (A) gga (G) gcc (A) cct (P) gta (V) cga (R) gcg (A) cgt (R) cgg (R) ggc (G) gcc (A) ggc (G) gct (A) gcg (A) gcc (A) gct (A) ggt (G) gat (D) caa (Q) gca (A) gga (G) gcc (A) ccg (P) cga (R) gga (G) gga (G) tga (TER) wild type sequence in deletion region: gcg (A) ccc (P) gcg (A) ggc (G) ccc (P) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: gcg (A) gcc (A) first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 54 112 P 165 * 54 haematopoietic_and_lymphoid_tissue CEBPA 1 c.334_346del13 p.P112fs*44 length of cdnaseq = 1077 length of protseq = 358 334 346 13 13 112 1 116 1 cccgcgggccccg Total no. of codons in cdna seq = 359 ccc ggc prev g start g-c end g-g --- -gc frameshift deletion length of cdnaseq after deletion = 1064 ter codon is tga at posn 155 Protein length after deletion = 154 Total no. of codons in del cdnaseq = 355 last codon in array is ga ccg (P) ggc (G) gcg (A) ccc (P) ggc (G) ggc (G) gcc (A) gtc (V) atg (M) ccg (P) ggc (G) gcg (A) gcg (A) gcg (A) ccg (P) tca (S) original frameshift length = 44 frameshift length = 44 frameshifted sequence: gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccc (P) gcg (A) ggc (G) ccc (P) ggc (G) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 44 112 P 155 * 44 haematopoietic_and_lymphoid_tissue CEBPA 1 c.335_336delCC p.P112fs*57 length of cdnaseq = 1077 length of protseq = 358 335 336 CC 2 112 2 112 3 cc Total no. of codons in cdna seq = 359 ccc ccc start c-c post g end c-g c-- --- frameshift deletion length of cdnaseq after deletion = 1075 ter codon is tga at posn 168 Protein length after deletion = 167 Total no. of codons in del cdnaseq = 359 last codon in array is a ccg (P) ggc (G) gcg (A) ccc (P) ccc (P) gcg (A) ggc (G) ccc (P) ggc (G) ccg (P) ggc (G) gcg (A) cgc (R) ggg (G) ccc (P) cgg (R) original frameshift length = 57 frameshift length = 57 frameshifted sequence: cgc (R) ggg (G) ccc (P) cgg (R) cgg (R) cgc (R) cgt (R) cat (H) gcc (A) cgg (R) ggg (G) agc (S) gca (A) cgg (R) gcc (A) ccc (P) gcc (A) cgg (R) cta (L) cgg (R) ctg (L) cgc (R) ggc (G) cgc (R) cgg (R) cta (L) cct (P) gga (G) cgg (R) cag (Q) gct (A) gga (G) gcc (A) cct (P) gta (V) cga (R) gcg (A) cgt (R) cgg (R) ggc (G) gcc (A) ggc (G) gct (A) gcg (A) gcc (A) gct (A) ggt (G) gat (D) caa (Q) gca (A) gga (G) gcc (A) ccg (P) cga (R) gga (G) gga (G) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 57 112 P 168 * 57 haematopoietic_and_lymphoid_tissue CEBPA 1 c.335_338delCCGC p.P112fs*47 length of cdnaseq = 1077 length of protseq = 358 335 338 CCGC 4 112 2 113 2 ccgc Total no. of codons in cdna seq = 359 ccc gcg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1073 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 358 last codon in array is ga ccg (P) ggc (G) gcg (A) ccc (P) gcg (A) ggc (G) ccc (P) ggc (G) ggc (G) ccg (P) ggc (G) gcg (A) cgg (R) gcc (A) ccg (P) gcg (A) original frameshift length = 47 frameshift length = 47 frameshifted sequence: cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccc (P) gcg (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 47 112 P 158 * 47 haematopoietic_and_lymphoid_tissue CEBPA 1 c.339_342delGGGC p.G114fs*45 length of cdnaseq = 1077 length of protseq = 358 339 342 GGGC 4 113 3 114 3 gggc Total no. of codons in cdna seq = 359 gcg ggc start c-g post c end c-c gc- --- frameshift deletion length of cdnaseq after deletion = 1073 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 358 last codon in array is ga ggc (G) gcg (A) ccc (P) gcg (A) ggc (G) ccc (P) ggc (G) ggc (G) gcc (A) ggc (G) gcg (A) ccc (P) gcc (A) ccg (P) gcg (A) gcg (A) original frameshift length = 46 frameshift length = 46 frameshifted sequence: gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gcg (A) ggc (G) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gcg (A) gcc (A) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 45 114 G 158 * 45 haematopoietic_and_lymphoid_tissue CEBPA 1 c.350_350delG p.G117fs*43 length of cdnaseq = 1077 length of protseq = 358 350 350 G 1 117 2 117 2 g Total no. of codons in cdna seq = 359 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga ggc (G) ccc (P) ggc (G) ggc (G) ggc (G) gcc (A) gtc (V) atg (M) ccc (P) ggc (G) ccc (P) ggc (G) gcg (A) ccg (P) tca (S) tgc (C) original frameshift length = 43 frameshift length = 43 frameshifted sequence: gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 43 117 G 159 * 43 haematopoietic_and_lymphoid_tissue CEBPA 1 c.351_351delC p.A118fs*42 length of cdnaseq = 1077 length of protseq = 358 351 351 C 1 117 3 117 3 c Total no. of codons in cdna seq = 359 ggc ggc start g-c post g end c-g gg- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga ggc (G) ccc (P) ggc (G) ggc (G) ggc (G) gcc (A) gtc (V) atg (M) ccc (P) ggc (G) ccc (P) ggc (G) ggg (G) ccg (P) tca (S) tgc (C) original frameshift length = 43 frameshift length = 43 frameshifted sequence: ggg (G) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggc (G) ggg (G) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 42 118 A 159 * 42 haematopoietic_and_lymphoid_tissue CEBPA 1 c.353_353delC p.A118fs*42 length of cdnaseq = 1077 length of protseq = 358 353 353 C 1 118 2 118 2 c Total no. of codons in cdna seq = 359 gcc gcc start g-c end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga ccc (P) ggc (G) ggc (G) gcc (A) gcc (A) gtc (V) atg (M) ccc (P) ggg (G) ccc (P) ggc (G) ggc (G) gcg (A) tca (S) tgc (C) ccg (P) original frameshift length = 42 frameshift length = 42 frameshifted sequence: gcg (A) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gcg (A) first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 41 118 A 159 * 42 V A 1 haematopoietic_and_lymphoid_tissue CEBPA c.353_353delC p.A118fs*42 haematopoietic_and_lymphoid_tissue CEBPA 1 c.454_454delG p.A152fs*8 length of cdnaseq = 1077 length of protseq = 358 454 454 G 1 152 1 152 1 g Total no. of codons in cdna seq = 359 gcg gcg prev g start g-g end g-c --- -cg frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga cgc (R) gtc (V) ggg (G) gcg (A) gcg (A) ccg (P) gcg (A) ctg (L) cgg (R) cgc (R) gtc (V) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gcg (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 8 152 A 159 * 8 haematopoietic_and_lymphoid_tissue CEBPA 1 c.48_48delC p.S16fs*144 length of cdnaseq = 1077 length of protseq = 358 48 48 C 1 16 3 16 3 c Total no. of codons in cdna seq = 359 agc agc start g-c post a end c-a ag- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga ccc (P) ccg (P) atg (M) agc (S) agc (S) agc (S) cac (H) ctg (L) cag (Q) ccc (P) ccg (P) atg (M) aga (R) gcc (A) acc (T) tgc (C) original frameshift length = 144 frameshift length = 144 frameshifted sequence: aga (R) gcc (A) acc (T) tgc (C) aga (R) gcc (A) ccc (P) cgc (R) acg (T) cgc (R) cca (P) gca (A) gcg (A) ccg (P) cct (P) tcg (S) gct (A) ttc (F) ccc (P) ggg (G) gcg (A) cgg (R) gcc (A) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 144 16 S 159 * 144 haematopoietic_and_lymphoid_tissue CEBPA 1 c.494delG p.R165fs*153 length of cdnaseq = 1077 length of protseq = 358 494 494 G 1 165 2 165 2 g Total no. of codons in cdna seq = 359 cgc cgc start c-g end g-c c-- --c frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 317 Protein length after deletion = 316 Total no. of codons in del cdnaseq = 359 last codon in array is ga cag (Q) gag (E) ccc (P) cgc (R) cgc (R) gag (E) gag (E) gat (D) gaa (E) cag (Q) gag (E) ccc (P) ccg (P) agg (R) agg (R) atg (M) original frameshift length = 153 frameshift length = 153 frameshifted sequence: ccg (P) agg (R) agg (R) atg (M) aag (K) cca (P) agc (S) agc (S) tgg (W) cgc (R) tgg (W) ccg (P) gcc (A) tct (S) tcc (S) ctt (L) acc (T) agc (S) cgc (R) cgc (R) cgc (R) cgc (R) cgc (R) cgc (R) cct (P) cgc (R) acc (T) cgc (R) acc (T) cgc (R) acc (T) cgc (R) cgc (R) ccg (P) cgc (R) acc (T) tgg (W) ccg (P) ccc (P) cgc (R) acc (T) tgc (C) agt (S) tcc (S) aga (R) tcg (S) cgc (R) act (T) gcg (A) gcc (A) aga (R) cca (P) cca (P) tgc (C) acc (T) tgc (C) agc (S) ccg (P) gtc (V) acc (T) cca (P) cgc (R) cgc (R) cgc (R) cca (P) cgc (R) ccg (P) tgc (C) cca (P) gcc (A) cgc (R) acc (T) ccg (P) cgc (R) ccg (P) cgc (R) tcg (S) gtg (V) ccg (P) ccg (P) gcc (A) tgc (C) cgg (R) gcc (A) ctg (L) gca (A) gcg (A) cgc (R) tca (S) agg (R) ggc (G) tgg (W) gcg (A) ccg (P) cgc (R) acc (T) ccg (P) acc (T) tcc (S) gcg (A) cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 153 165 R 317 * 153 haematopoietic_and_lymphoid_tissue CEBPA 1 c.50_56delGCCACCT p.H18fs*140 length of cdnaseq = 1077 length of protseq = 358 50 56 GCCACCT 7 17 2 19 2 gccacct Total no. of codons in cdna seq = 359 agc ctg start a-g end t-g a-- --g frameshift deletion length of cdnaseq after deletion = 1070 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 357 last codon in array is ga ccg (P) atg (M) agc (S) agc (S) ctg (L) cag (Q) agc (S) ccc (P) ccg (P) ccg (P) atg (M) agc (S) agc (S) aga (R) gcc (A) ccc (P) original frameshift length = 141 frameshift length = 141 frameshifted sequence: agc (S) aga (R) gcc (A) ccc (P) cgc (R) acg (T) cgc (R) cca (P) gca (A) gcg (A) ccg (P) cct (P) tcg (S) gct (A) ttc (F) ccc (P) ggg (G) gcg (A) cgg (R) gcc (A) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: agc (S) cac (H) ctg (L) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: agc (S) agc (S) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 140 18 H 157 * 140 haematopoietic_and_lymphoid_tissue CEBPA 1 c.52_56delCACCT p.H18fs*88 length of cdnaseq = 1077 length of protseq = 358 52 56 CACCT 5 18 1 19 2 cacct Total no. of codons in cdna seq = 359 cac ctg prev c start c-c end t-g --- --g frameshift deletion length of cdnaseq after deletion = 1072 ter codon is tga at posn 105 Protein length after deletion = 104 Total no. of codons in del cdnaseq = 358 last codon in array is a atg (M) agc (S) agc (S) cac (H) ctg (L) cag (Q) agc (S) ccc (P) ccg (P) atg (M) agc (S) agc (S) gca (A) gag (E) ccc (P) ccc (P) original frameshift length = 88 frameshift length = 88 frameshifted sequence: gca (A) gag (E) ccc (P) ccc (P) gca (A) cgc (R) gcc (A) cag (Q) cag (Q) cgc (R) cgc (R) ctt (L) cgg (R) ctt (L) tcc (S) ccg (P) ggg (G) cgc (R) ggg (G) ccc (P) cgc (R) gca (A) gcc (A) tcc (S) cgc (R) ccc (P) acc (T) tgc (C) cgc (R) ccc (P) gga (G) gcc (A) gct (A) ggg (G) cgg (R) cat (H) ctg (L) cga (R) gca (A) cga (R) gac (D) gtc (V) cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: cac (H) ctg (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 88 18 H 105 * 88 haematopoietic_and_lymphoid_tissue CEBPA 1 c.541_541delT p.Y181fs*137 length of cdnaseq = 1077 length of protseq = 358 541 541 T 1 181 1 181 1 t Total no. of codons in cdna seq = 359 tac tac prev t start t-t end t-a --- -ac frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 317 Protein length after deletion = 316 Total no. of codons in del cdnaseq = 359 last codon in array is ga ctc (L) ttc (F) cct (P) tac (Y) tac (Y) cag (Q) ccg (P) ccg (P) ccg (P) ctc (L) ttc (F) cct (P) acc (T) agc (S) cgc (R) cgc (R) original frameshift length = 137 frameshift length = 137 frameshifted sequence: acc (T) agc (S) cgc (R) cgc (R) cgc (R) cgc (R) cgc (R) cgc (R) cct (P) cgc (R) acc (T) cgc (R) acc (T) cgc (R) acc (T) cgc (R) cgc (R) ccg (P) cgc (R) acc (T) tgg (W) ccg (P) ccc (P) cgc (R) acc (T) tgc (C) agt (S) tcc (S) aga (R) tcg (S) cgc (R) act (T) gcg (A) gcc (A) aga (R) cca (P) cca (P) tgc (C) acc (T) tgc (C) agc (S) ccg (P) gtc (V) acc (T) cca (P) cgc (R) cgc (R) cgc (R) cca (P) cgc (R) ccg (P) tgc (C) cca (P) gcc (A) cgc (R) acc (T) ccg (P) cgc (R) ccg (P) cgc (R) tcg (S) gtg (V) ccg (P) ccg (P) gcc (A) tgc (C) cgg (R) gcc (A) ctg (L) gca (A) gcg (A) cgc (R) tca (S) agg (R) ggc (G) tgg (W) gcg (A) ccg (P) cgc (R) acc (T) ccg (P) acc (T) tcc (S) gcg (A) cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 137 181 Y 317 * 137 haematopoietic_and_lymphoid_tissue CEBPA 1 c.64_68delCCCCC p.P22fs*84 length of cdnaseq = 1077 length of protseq = 358 64 68 CCCCC 5 22 1 23 2 ccccc Total no. of codons in cdna seq = 359 ccc ccg prev c start c-c end c-g --- --g frameshift deletion length of cdnaseq after deletion = 1072 ter codon is tga at posn 105 Protein length after deletion = 104 Total no. of codons in del cdnaseq = 358 last codon in array is a ctg (L) cag (Q) agc (S) ccc (P) ccg (P) cac (H) gcg (A) ccc (P) agc (S) ctg (L) cag (Q) agc (S) gca (A) cgc (R) gcc (A) cag (Q) original frameshift length = 84 frameshift length = 84 frameshifted sequence: gca (A) cgc (R) gcc (A) cag (Q) cag (Q) cgc (R) cgc (R) ctt (L) cgg (R) ctt (L) tcc (S) ccg (P) ggg (G) cgc (R) ggg (G) ccc (P) cgc (R) gca (A) gcc (A) tcc (S) cgc (R) ccc (P) acc (T) tgc (C) cgc (R) ccc (P) gga (G) gcc (A) gct (A) ggg (G) cgg (R) cat (H) ctg (L) cga (R) gca (A) cga (R) gac (D) gtc (V) cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: ccc (P) ccg (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 84 22 P 105 * 84 haematopoietic_and_lymphoid_tissue CEBPA 1 c.656_794del139 p.H219fs*53 length of cdnaseq = 1077 length of protseq = 358 656 794 139 139 219 2 265 2 acctgcagcccggtcaccccacgccgccgcccacgcccgtgcccagcccgcaccccgcgcccgcgctcggtgccgccggcctgccgggccctggcagcgcgctcaaggggctgggcgccgcgcaccccgacctccgcgc Total no. of codons in cdna seq = 359 cac gcg start c-a end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 938 ter codon is tga at posn 271 Protein length after deletion = 270 Total no. of codons in del cdnaseq = 313 last codon in array is ga acc (T) acc (T) atg (M) cac (H) gcg (A) agt (S) ggc (G) ggc (G) agc (S) acc (T) acc (T) atg (M) cga (R) gtg (V) gcg (A) gca (A) original frameshift length = 53 frameshift length = 53 frameshifted sequence: cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: cac (H) ctg (L) cag (Q) ccc (P) ggt (G) cac (H) ccc (P) acg (T) ccg (P) ccg (P) ccc (P) acg (T) ccc (P) gtg (V) ccc (P) agc (S) ccg (P) cac (H) ccc (P) gcg (A) ccc (P) gcg (A) ctc (L) ggt (G) gcc (A) gcc (A) ggc (G) ctg (L) ccg (P) ggc (G) cct (P) ggc (G) agc (S) gcg (A) ctc (L) aag (K) ggg (G) ctg (L) ggc (G) gcc (A) gcg (A) cac (H) ccc (P) gac (D) ctc (L) cgc (R) gcg (A) wt frameshift deln region length = 47 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 53 219 H 271 * 53 haematopoietic_and_lymphoid_tissue CEBPA 1 c.663_663delG p.Q221fs*97 length of cdnaseq = 1077 length of protseq = 358 663 663 G 1 221 3 221 3 g Total no. of codons in cdna seq = 359 cag cag start a-g post c end g-c ca- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 317 Protein length after deletion = 316 Total no. of codons in del cdnaseq = 359 last codon in array is ga atg (M) cac (H) ctg (L) cag (Q) cag (Q) ccc (P) ggt (G) cac (H) ccc (P) atg (M) cac (H) ctg (L) cac (H) ccg (P) gtc (V) acc (T) original frameshift length = 97 frameshift length = 97 frameshifted sequence: cac (H) ccg (P) gtc (V) acc (T) cca (P) cgc (R) cgc (R) cgc (R) cca (P) cgc (R) ccg (P) tgc (C) cca (P) gcc (A) cgc (R) acc (T) ccg (P) cgc (R) ccg (P) cgc (R) tcg (S) gtg (V) ccg (P) ccg (P) gcc (A) tgc (C) cgg (R) gcc (A) ctg (L) gca (A) gcg (A) cgc (R) tca (S) agg (R) ggc (G) tgg (W) gcg (A) ccg (P) cgc (R) acc (T) ccg (P) acc (T) tcc (S) gcg (A) cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 97 221 Q 317 * 97 haematopoietic_and_lymphoid_tissue CEBPA 1 c.66_78del13 p.P23fs*133 length of cdnaseq = 1077 length of protseq = 358 66 78 13 13 22 3 26 3 cccgcacgcgccc Total no. of codons in cdna seq = 359 ccc ccc start c-c post a end c-a cc- --- frameshift deletion length of cdnaseq after deletion = 1064 ter codon is tga at posn 155 Protein length after deletion = 154 Total no. of codons in del cdnaseq = 355 last codon in array is ga ctg (L) cag (Q) agc (S) ccc (P) ccc (P) agc (S) agc (S) gcc (A) gcc (A) ctg (L) cag (Q) agc (S) cca (P) gca (A) gcg (A) ccg (P) original frameshift length = 134 frameshift length = 134 frameshifted sequence: cca (P) gca (A) gcg (A) ccg (P) cct (P) tcg (S) gct (A) ttc (F) ccc (P) ggg (G) gcg (A) cgg (R) gcc (A) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccc (P) ccg (P) cac (H) gcg (A) ccc (P) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 133 23 P 155 * 133 haematopoietic_and_lymphoid_tissue CEBPA 1 c.68_78del11 p.P23fs*81 length of cdnaseq = 1077 length of protseq = 358 68 78 11 11 23 2 26 3 cgcacgcgccc Total no. of codons in cdna seq = 359 ccg ccc start c-c post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 1066 ter codon is tga at posn 103 Protein length after deletion = 102 Total no. of codons in del cdnaseq = 356 last codon in array is a cag (Q) agc (S) ccc (P) ccg (P) ccc (P) agc (S) agc (S) gcc (A) gcc (A) cag (Q) agc (S) ccc (P) cag (Q) cag (Q) cgc (R) cgc (R) original frameshift length = 81 frameshift length = 81 frameshifted sequence: cag (Q) cag (Q) cgc (R) cgc (R) ctt (L) cgg (R) ctt (L) tcc (S) ccg (P) ggg (G) cgc (R) ggg (G) ccc (P) cgc (R) gca (A) gcc (A) tcc (S) cgc (R) ccc (P) acc (T) tgc (C) cgc (R) ccc (P) gga (G) gcc (A) gct (A) ggg (G) cgg (R) cat (H) ctg (L) cga (R) gca (A) cga (R) gac (D) gtc (V) cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: ccg (P) cac (H) gcg (A) ccc (P) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 81 23 P 103 * 81 haematopoietic_and_lymphoid_tissue CEBPA 1 c.692_713del22 p.P231fs*80 length of cdnaseq = 1077 length of protseq = 358 692 713 22 22 231 2 238 2 ccgtgcccagcccgcaccccgc Total no. of codons in cdna seq = 359 ccc gcg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1055 ter codon is tga at posn 310 Protein length after deletion = 309 Total no. of codons in del cdnaseq = 352 last codon in array is ga ccg (P) ccc (P) acg (T) ccc (P) gcg (A) ccc (P) gcg (A) ctc (L) ggt (G) ccg (P) ccc (P) acg (T) cgc (R) ccg (P) cgc (R) tcg (S) original frameshift length = 80 frameshift length = 80 frameshifted sequence: cgc (R) ccg (P) cgc (R) tcg (S) gtg (V) ccg (P) ccg (P) gcc (A) tgc (C) cgg (R) gcc (A) ctg (L) gca (A) gcg (A) cgc (R) tca (S) agg (R) ggc (G) tgg (W) gcg (A) ccg (P) cgc (R) acc (T) ccg (P) acc (T) tcc (S) gcg (A) cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: ccc (P) gtg (V) ccc (P) agc (S) ccg (P) cac (H) ccc (P) gcg (A) wt frameshift deln region length = 8 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 80 231 P 310 * 80 haematopoietic_and_lymphoid_tissue CEBPA 1 c.704_704delC p.P235fs*83 length of cdnaseq = 1077 length of protseq = 358 704 704 C 1 235 2 235 2 c Total no. of codons in cdna seq = 359 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 317 Protein length after deletion = 316 Total no. of codons in del cdnaseq = 359 last codon in array is ga gtg (V) ccc (P) agc (S) ccg (P) ccg (P) cac (H) ccc (P) gcg (A) ccc (P) gtg (V) ccc (P) agc (S) cgc (R) acc (T) ccg (P) cgc (R) original frameshift length = 83 frameshift length = 83 frameshifted sequence: cgc (R) acc (T) ccg (P) cgc (R) ccg (P) cgc (R) tcg (S) gtg (V) ccg (P) ccg (P) gcc (A) tgc (C) cgg (R) gcc (A) ctg (L) gca (A) gcg (A) cgc (R) tca (S) agg (R) ggc (G) tgg (W) gcg (A) ccg (P) cgc (R) acc (T) ccg (P) acc (T) tcc (S) gcg (A) cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 83 235 P 317 * 83 haematopoietic_and_lymphoid_tissue CEBPA 1 c.707_719del13 p.H236fs*78 length of cdnaseq = 1077 length of protseq = 358 707 719 13 13 236 2 240 2 accccgcgcccgc Total no. of codons in cdna seq = 359 cac gcg start c-a end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1064 ter codon is tga at posn 313 Protein length after deletion = 312 Total no. of codons in del cdnaseq = 355 last codon in array is ga ccc (P) agc (S) ccg (P) cac (H) gcg (A) ctc (L) ggt (G) gcc (A) gcc (A) ccc (P) agc (S) ccg (P) cgc (R) tcg (S) gtg (V) ccg (P) original frameshift length = 78 frameshift length = 78 frameshifted sequence: cgc (R) tcg (S) gtg (V) ccg (P) ccg (P) gcc (A) tgc (C) cgg (R) gcc (A) ctg (L) gca (A) gcg (A) cgc (R) tca (S) agg (R) ggc (G) tgg (W) gcg (A) ccg (P) cgc (R) acc (T) ccg (P) acc (T) tcc (S) gcg (A) cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: cac (H) ccc (P) gcg (A) ccc (P) gcg (A) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 78 236 H 313 * 78 haematopoietic_and_lymphoid_tissue CEBPA 1 c.71_119del49 p.H24fs*120 length of cdnaseq = 1077 length of protseq = 358 71 119 49 49 24 2 40 2 acgcgcccagcagcgccgccttcggctttccccggggcgcgggccccgc Total no. of codons in cdna seq = 359 cac gcg start c-a end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1028 ter codon is tga at posn 143 Protein length after deletion = 142 Total no. of codons in del cdnaseq = 343 last codon in array is ga agc (S) ccc (P) ccg (P) cac (H) gcg (A) cag (Q) cct (P) ccc (P) gcc (A) agc (S) ccc (P) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) original frameshift length = 120 frameshift length = 120 frameshifted sequence: cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: cac (H) gcg (A) ccc (P) agc (S) agc (S) gcc (A) gcc (A) ttc (F) ggc (G) ttt (F) ccc (P) cgg (R) ggc (G) gcg (A) ggc (G) ccc (P) gcg (A) wt frameshift deln region length = 17 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 120 24 H 143 * 120 haematopoietic_and_lymphoid_tissue CEBPA 1 c.71_81del11 p.H24fs*80 length of cdnaseq = 1077 length of protseq = 358 71 81 11 11 24 2 27 3 acgcgcccagc Total no. of codons in cdna seq = 359 cac agc start c-a post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 1066 ter codon is tga at posn 103 Protein length after deletion = 102 Total no. of codons in del cdnaseq = 356 last codon in array is a agc (S) ccc (P) ccg (P) cac (H) agc (S) agc (S) gcc (A) gcc (A) ttc (F) agc (S) ccc (P) ccg (P) cag (Q) cgc (R) cgc (R) ctt (L) original frameshift length = 80 frameshift length = 80 frameshifted sequence: cag (Q) cgc (R) cgc (R) ctt (L) cgg (R) ctt (L) tcc (S) ccg (P) ggg (G) cgc (R) ggg (G) ccc (P) cgc (R) gca (A) gcc (A) tcc (S) cgc (R) ccc (P) acc (T) tgc (C) cgc (R) ccc (P) gga (G) gcc (A) gct (A) ggg (G) cgg (R) cat (H) ctg (L) cga (R) gca (A) cga (R) gac (D) gtc (V) cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: cac (H) gcg (A) ccc (P) agc (S) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 80 24 H 103 * 80 haematopoietic_and_lymphoid_tissue CEBPA 1 c.722_746del25 p.G242fs*68 length of cdnaseq = 1077 length of protseq = 358 722 746 25 25 241 2 249 2 tcggtgccgccggcctgccgggccc Total no. of codons in cdna seq = 359 ctc cct start c-t end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1052 ter codon is tga at posn 309 Protein length after deletion = 308 Total no. of codons in del cdnaseq = 351 last codon in array is ga gcg (A) ccc (P) gcg (A) ctc (L) cct (P) ggc (G) agc (S) gcg (A) ctc (L) gcg (A) ccc (P) gcg (A) ctg (L) gca (A) gcg (A) cgc (R) original frameshift length = 69 frameshift length = 69 frameshifted sequence: ctg (L) gca (A) gcg (A) cgc (R) tca (S) agg (R) ggc (G) tgg (W) gcg (A) ccg (P) cgc (R) acc (T) ccg (P) acc (T) tcc (S) gcg (A) cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: ctc (L) ggt (G) gcc (A) gcc (A) ggc (G) ctg (L) ccg (P) ggc (G) cct (P) wt frameshift deln region length = 9 matching aa in delstart region of wt and deletion mutant: ctc (L) ctg (L) first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 68 242 G 309 * 68 haematopoietic_and_lymphoid_tissue CEBPA 1 c.740_791del52 p.P247fs*54 length of cdnaseq = 1077 length of protseq = 358 740 791 52 52 247 2 264 2 cgggccctggcagcgcgctcaaggggctgggcgccgcgcaccccgacctccg Total no. of codons in cdna seq = 359 ccg cgc start c-c end g-c c-- --c frameshift deletion length of cdnaseq after deletion = 1025 ter codon is tga at posn 300 Protein length after deletion = 299 Total no. of codons in del cdnaseq = 342 last codon in array is ga gcc (A) ggc (G) ctg (L) ccg (P) cgc (R) gcg (A) agt (S) ggc (G) ggc (G) gcc (A) ggc (G) ctg (L) ccg (P) cga (R) gtg (V) gcg (A) original frameshift length = 54 frameshift length = 54 frameshifted sequence: ccg (P) cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: ccg (P) ggc (G) cct (P) ggc (G) agc (S) gcg (A) ctc (L) aag (K) ggg (G) ctg (L) ggc (G) gcc (A) gcg (A) cac (H) ccc (P) gac (D) ctc (L) cgc (R) wt frameshift deln region length = 18 matching aa in delstart region of wt and deletion mutant: ccg (P) ccg (P) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 53 247 P 300 * 54 G P 1 haematopoietic_and_lymphoid_tissue CEBPA c.740_791del52 p.P247fs*54 haematopoietic_and_lymphoid_tissue CEBPA 1 c.813_813delG p.G272fs*46 length of cdnaseq = 1077 length of protseq = 358 813 813 G 1 271 3 271 3 g Total no. of codons in cdna seq = 359 gcg gcg start c-g post g end g-g gc- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 317 Protein length after deletion = 316 Total no. of codons in del cdnaseq = 359 last codon in array is ga ggc (G) agc (S) ggc (G) gcg (A) gcg (A) ggc (G) aag (K) gcc (A) aag (K) ggc (G) agc (S) ggc (G) gcg (A) gca (A) agg (R) cca (P) original frameshift length = 47 frameshift length = 47 frameshifted sequence: gcg (A) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: gcg (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcg (A) gcg (A) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 46 272 G 317 * 46 haematopoietic_and_lymphoid_tissue CEBPA 1 c.82_124del43 p.S28fs*118 length of cdnaseq = 1077 length of protseq = 358 82 124 43 43 28 1 42 1 agcgccgccttcggctttccccggggcgcgggccccgcgcagc Total no. of codons in cdna seq = 359 agc cct prev c start c-a end c-c --- -ct frameshift deletion length of cdnaseq after deletion = 1034 ter codon is tga at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 345 last codon in array is ga gcg (A) ccc (P) agc (S) agc (S) cct (P) ccc (P) gcc (A) cca (P) cct (P) gcg (A) ccc (P) agc (S) ctc (L) ccg (P) ccc (P) cac (H) original frameshift length = 118 frameshift length = 118 frameshifted sequence: ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: agc (S) gcc (A) gcc (A) ttc (F) ggc (G) ttt (F) ccc (P) cgg (R) ggc (G) gcg (A) ggc (G) ccc (P) gcg (A) cag (Q) cct (P) wt frameshift deln region length = 15 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 118 28 S 145 * 118 haematopoietic_and_lymphoid_tissue CEBPA 1 c.856_856delC p.R286fs*32 length of cdnaseq = 1077 length of protseq = 358 856 856 C 1 286 1 286 1 c Total no. of codons in cdna seq = 359 cgg cgg prev c start c-c end c-g --- -gg frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 317 Protein length after deletion = 316 Total no. of codons in del cdnaseq = 359 last codon in array is ga aac (N) gag (E) tac (Y) cgg (R) cgg (R) gtg (V) cgg (R) cgc (R) gag (E) aac (N) gag (E) tac (Y) ggg (G) tgc (C) ggc (G) gcg (A) original frameshift length = 32 frameshift length = 32 frameshifted sequence: ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 32 286 R 317 * 32 haematopoietic_and_lymphoid_tissue CEBPA 1 c.87_90delCGCC p.A30fs*129 length of cdnaseq = 1077 length of protseq = 358 87 90 CGCC 4 29 3 30 3 cgcc Total no. of codons in cdna seq = 359 gcc gcc start c-c post t end c-t gc- --- frameshift deletion length of cdnaseq after deletion = 1073 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 358 last codon in array is ga ccc (P) agc (S) agc (S) gcc (A) gcc (A) ttc (F) ggc (G) ttt (F) ccc (P) ccc (P) agc (S) agc (S) gct (A) tcg (S) gct (A) ttc (F) original frameshift length = 130 frameshift length = 130 frameshifted sequence: gct (A) tcg (S) gct (A) ttc (F) ccc (P) ggg (G) gcg (A) cgg (R) gcc (A) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gcc (A) gcc (A) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gcc (A) gct (A) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 129 30 A 158 * 129 haematopoietic_and_lymphoid_tissue CEBPA 1 c.88_89delGC p.A30fs*77 length of cdnaseq = 1077 length of protseq = 358 88 89 GC 2 30 1 30 2 gc Total no. of codons in cdna seq = 359 gcc gcc prev c start c-g end c-c --- --c frameshift deletion length of cdnaseq after deletion = 1075 ter codon is tga at posn 106 Protein length after deletion = 105 Total no. of codons in del cdnaseq = 359 last codon in array is a agc (S) agc (S) gcc (A) gcc (A) gcc (A) ttc (F) ggc (G) ttt (F) ccc (P) agc (S) agc (S) gcc (A) ctt (L) cgg (R) ctt (L) tcc (S) original frameshift length = 77 frameshift length = 77 frameshifted sequence: ctt (L) cgg (R) ctt (L) tcc (S) ccg (P) ggg (G) cgc (R) ggg (G) ccc (P) cgc (R) gca (A) gcc (A) tcc (S) cgc (R) ccc (P) acc (T) tgc (C) cgc (R) ccc (P) gga (G) gcc (A) gct (A) ggg (G) cgg (R) cat (H) ctg (L) cga (R) gca (A) cga (R) gac (D) gtc (V) cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 77 30 A 106 * 77 haematopoietic_and_lymphoid_tissue CEBPA 1 c.956_956delG p.S319fs*13 length of cdnaseq = 1077 length of protseq = 358 956 956 G 1 319 2 319 2 g Total no. of codons in cdna seq = 359 agt agt start a-g end g-t a-- --t frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 331 Protein length after deletion = 330 Total no. of codons in del cdnaseq = 359 last codon in array is ga gag (E) ctg (L) acc (T) agt (S) agt (S) gac (D) aat (N) gac (D) cgc (R) gag (E) ctg (L) acc (T) atg (M) aca (T) atg (M) acc (T) original frameshift length = 13 frameshift length = 13 frameshifted sequence: atg (M) aca (T) atg (M) acc (T) gcc (A) tgc (C) gca (A) agc (S) ggg (G) tgg (W) aac (N) agc (S) tga (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 13 319 S 331 * 13 haematopoietic_and_lymphoid_tissue CEBPA 1 c.95_95delG p.G32fs*128 length of cdnaseq = 1077 length of protseq = 358 95 95 G 1 32 2 32 2 g Total no. of codons in cdna seq = 359 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga gcc (A) gcc (A) ttc (F) ggc (G) ggc (G) ttt (F) ccc (P) cgg (R) ggc (G) gcc (A) gcc (A) ttc (F) gct (A) ttc (F) ccc (P) ggg (G) original frameshift length = 128 frameshift length = 128 frameshifted sequence: gct (A) ttc (F) ccc (P) ggg (G) gcg (A) cgg (R) gcc (A) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 128 32 G 159 * 128 stomach CEBPA 1 c.711_717delCGCGCCC p.A238fs*78 length of cdnaseq = 1077 length of protseq = 358 711 717 CGCGCCC 7 237 3 239 3 cgcgccc Total no. of codons in cdna seq = 359 ccc ccc start c-c post g end c-g cc- --- frameshift deletion length of cdnaseq after deletion = 1070 ter codon is tga at posn 315 Protein length after deletion = 314 Total no. of codons in del cdnaseq = 357 last codon in array is ga agc (S) ccg (P) cac (H) ccc (P) ccc (P) gcg (A) ctc (L) ggt (G) gcc (A) agc (S) ccg (P) cac (H) ccg (P) cgc (R) tcg (S) gtg (V) original frameshift length = 79 frameshift length = 79 frameshifted sequence: ccg (P) cgc (R) tcg (S) gtg (V) ccg (P) ccg (P) gcc (A) tgc (C) cgg (R) gcc (A) ctg (L) gca (A) gcg (A) cgc (R) tca (S) agg (R) ggc (G) tgg (W) gcg (A) ccg (P) cgc (R) acc (T) ccg (P) acc (T) tcc (S) gcg (A) cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: ccc (P) gcg (A) ccc (P) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 78 238 A 315 * 78 haematopoietic_and_lymphoid_tissue CEBPA 21 c.247_247delC p.Q83fs*77 length of cdnaseq = 1077 length of protseq = 358 247 247 C 1 83 1 83 1 c Total no. of codons in cdna seq = 359 cag cag prev c start c-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga gac (D) ctg (L) ttc (F) cag (Q) cag (Q) cac (H) agc (S) cgg (R) cag (Q) gac (D) ctg (L) ttc (F) agc (S) aca (T) gcc (A) ggc (G) original frameshift length = 77 frameshift length = 77 frameshifted sequence: agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 77 83 Q 159 * 77 haematopoietic_and_lymphoid_tissue CEBPA 2 c.111_121del11 p.G38fs*66 length of cdnaseq = 1077 length of protseq = 358 111 121 11 11 37 3 41 1 gggccccgcgc Total no. of codons in cdna seq = 359 gcg cag start c-g end c-a gc- -ag frameshift deletion length of cdnaseq after deletion = 1066 ter codon is tga at posn 103 Protein length after deletion = 102 Total no. of codons in del cdnaseq = 356 last codon in array is a ccc (P) cgg (R) ggc (G) gcg (A) cag (Q) cct (P) ccc (P) gcc (A) cca (P) ccc (P) cgg (R) ggc (G) gca (A) gcc (A) tcc (S) cgc (R) original frameshift length = 67 frameshift length = 67 frameshifted sequence: gca (A) gcc (A) tcc (S) cgc (R) ccc (P) acc (T) tgc (C) cgc (R) ccc (P) gga (G) gcc (A) gct (A) ggg (G) cgg (R) cat (H) ctg (L) cga (R) gca (A) cga (R) gac (D) gtc (V) cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: gcg (A) ggc (G) ccc (P) gcg (A) cag (Q) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: gcg (A) gca (A) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 66 38 G 103 * 66 haematopoietic_and_lymphoid_tissue CEBPA 2 c.114_120delCCCCGCG p.P39fs*119 length of cdnaseq = 1077 length of protseq = 358 114 120 CCCCGCG 7 38 3 40 3 ccccgcg Total no. of codons in cdna seq = 359 ggc gcg start g-c post c end g-c gg- --- frameshift deletion length of cdnaseq after deletion = 1070 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 357 last codon in array is ga cgg (R) ggc (G) gcg (A) ggc (G) gcg (A) cag (Q) cct (P) ccc (P) gcc (A) cgg (R) ggc (G) gcg (A) ggc (G) agc (S) ctc (L) ccg (P) original frameshift length = 120 frameshift length = 120 frameshifted sequence: ggc (G) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) ccc (P) gcg (A) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ggc (G) ggc (G) first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 119 39 P 157 * 119 haematopoietic_and_lymphoid_tissue CEBPA 2 c.141_141delC p.A47fs*113 length of cdnaseq = 1077 length of protseq = 358 141 141 C 1 47 3 47 3 c Total no. of codons in cdna seq = 359 gcc gcc start c-c post g end c-g gc- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga gcc (A) cca (P) cct (P) gcc (A) gcc (A) gcc (A) ccg (P) gag (E) ccg (P) gcc (A) cca (P) cct (P) gcg (A) ccc (P) cgg (R) agc (S) original frameshift length = 113 frameshift length = 113 frameshifted sequence: gcg (A) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gcg (A) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 112 47 A 159 * 113 haematopoietic_and_lymphoid_tissue CEBPA 2 c.152_167del16 p.L52fs*103 length of cdnaseq = 1077 length of protseq = 358 152 167 16 16 51 2 56 2 cgctgggcggcatctg Total no. of codons in cdna seq = 359 ccg tgc start c-c end g-c c-- --c frameshift deletion length of cdnaseq after deletion = 1061 ter codon is tga at posn 154 Protein length after deletion = 153 Total no. of codons in del cdnaseq = 354 last codon in array is ga gcc (A) ccg (P) gag (E) ccg (P) tgc (C) gag (E) cac (H) gag (E) acg (T) gcc (A) ccg (P) gag (E) ccg (P) agc (S) acg (T) aga (R) original frameshift length = 104 frameshift length = 104 frameshifted sequence: ccg (P) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccg (P) ctg (L) ggc (G) ggc (G) atc (I) tgc (C) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: ccg (P) ccg (P) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 103 52 L 154 * 103 haematopoietic_and_lymphoid_tissue CEBPA 2 c.155_162delTGGGCGGC p.L52fs*53 length of cdnaseq = 1077 length of protseq = 358 155 162 TGGGCGGC 8 52 2 54 3 tgggcggc Total no. of codons in cdna seq = 359 ctg ggc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 1069 ter codon is tga at posn 104 Protein length after deletion = 103 Total no. of codons in del cdnaseq = 357 last codon in array is a ccg (P) gag (E) ccg (P) ctg (L) ggc (G) atc (I) tgc (C) gag (E) cac (H) ccg (P) gag (E) ccg (P) cat (H) ctg (L) cga (R) gca (A) original frameshift length = 53 frameshift length = 53 frameshifted sequence: cat (H) ctg (L) cga (R) gca (A) cga (R) gac (D) gtc (V) cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: ctg (L) ggc (G) ggc (G) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 53 52 L 104 * 53 haematopoietic_and_lymphoid_tissue CEBPA 2 c.179_179delC p.T60fs*100 length of cdnaseq = 1077 length of protseq = 358 179 179 C 1 60 2 60 2 c Total no. of codons in cdna seq = 359 acg acg start a-c end c-g a-- --g frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga gag (E) cac (H) gag (E) acg (T) acg (T) tcc (S) atc (I) gac (D) atc (I) gag (E) cac (H) gag (E) agt (S) cca (P) tcg (S) aca (T) original frameshift length = 100 frameshift length = 100 frameshifted sequence: agt (S) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: acg (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 100 60 T 159 * 100 haematopoietic_and_lymphoid_tissue CEBPA 2 c.182_182delC p.I62fs*98 length of cdnaseq = 1077 length of protseq = 358 182 182 C 1 61 2 61 2 c Total no. of codons in cdna seq = 359 tcc tcc start t-c end c-c t-- --c frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga cac (H) gag (E) acg (T) tcc (S) tcc (S) atc (I) gac (D) atc (I) agc (S) cac (H) gag (E) acg (T) tca (S) tcg (S) aca (T) tca (S) original frameshift length = 99 frameshift length = 99 frameshifted sequence: tca (S) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcc (S) tca (S) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 98 62 I 159 * 98 haematopoietic_and_lymphoid_tissue CEBPA 2 c.183_183delC p.I62fs*98 length of cdnaseq = 1077 length of protseq = 358 183 183 C 1 61 3 61 3 c Total no. of codons in cdna seq = 359 tcc tcc start c-c post a end c-a tc- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga cac (H) gag (E) acg (T) tcc (S) tcc (S) atc (I) gac (D) atc (I) agc (S) cac (H) gag (E) acg (T) tca (S) tcg (S) aca (T) tca (S) original frameshift length = 99 frameshift length = 99 frameshifted sequence: tca (S) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcc (S) tca (S) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 98 62 I 159 * 98 haematopoietic_and_lymphoid_tissue CEBPA 2 c.231_231delC p.F77fs*83 length of cdnaseq = 1077 length of protseq = 358 231 231 C 1 77 3 77 3 c Total no. of codons in cdna seq = 359 ttc ttc start t-c post c end c-c tt- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga aac (N) gac (D) gag (E) ttc (F) ttc (F) ctg (L) gcc (A) gac (D) ctg (L) aac (N) gac (D) gag (E) ttc (F) tgg (W) ccg (P) acc (T) original frameshift length = 83 frameshift length = 83 frameshifted sequence: ttc (F) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttc (F) ttc (F) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 82 77 F 159 * 83 L F 2 haematopoietic_and_lymphoid_tissue CEBPA c.231_231delC p.F77fs*83 haematopoietic_and_lymphoid_tissue CEBPA 2 c.260_411del152 p.Q87fs*32 length of cdnaseq = 1077 length of protseq = 358 260 411 152 152 87 2 137 3 agcaggagaaggccaaggcggccgtgggccccacgggcggcggcggcggcggcgactttgactacccgggcgcgcccgcgggccccggcggcgccgtcatgcccgggggagcgcacgggcccccgcccggctacggctgcgcggccgccggc Total no. of codons in cdna seq = 359 cag ggc start c-a post t end c-t c-- --- frameshift deletion length of cdnaseq after deletion = 925 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 309 last codon in array is a cac (H) agc (S) cgg (R) cag (Q) ggc (G) tac (Y) ctg (L) gac (D) ggc (G) cac (H) agc (S) cgg (R) cta (L) cct (P) gga (G) cgg (R) original frameshift length = 32 frameshift length = 32 frameshifted sequence: cta (L) cct (P) gga (G) cgg (R) cag (Q) gct (A) gga (G) gcc (A) cct (P) gta (V) cga (R) gcg (A) cgt (R) cgg (R) ggc (G) gcc (A) ggc (G) gct (A) gcg (A) gcc (A) gct (A) ggt (G) gat (D) caa (Q) gca (A) gga (G) gcc (A) ccg (P) cga (R) gga (G) gga (G) tga (TER) wild type sequence in deletion region: cag (Q) cag (Q) gag (E) aag (K) gcc (A) aag (K) gcg (A) gcc (A) gtg (V) ggc (G) ccc (P) acg (T) ggc (G) ggc (G) ggc (G) ggc (G) ggc (G) ggc (G) gac (D) ttt (F) gac (D) tac (Y) ccg (P) ggc (G) gcg (A) ccc (P) gcg (A) ggc (G) ccc (P) ggc (G) ggc (G) gcc (A) gtc (V) atg (M) ccc (P) ggg (G) gga (G) gcg (A) cac (H) ggg (G) ccc (P) ccg (P) ccc (P) ggc (G) tac (Y) ggc (G) tgc (C) gcg (A) gcc (A) gcc (A) ggc (G) wt frameshift deln region length = 51 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 32 87 Q 118 * 32 haematopoietic_and_lymphoid_tissue CEBPA 2 c.319_319delG p.D107fs*53 length of cdnaseq = 1077 length of protseq = 358 319 319 G 1 107 1 107 1 g Total no. of codons in cdna seq = 359 gac gac prev t start t-g end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga ggc (G) gac (D) ttt (F) gac (D) gac (D) tac (Y) ccg (P) ggc (G) gcg (A) ggc (G) gac (D) ttt (F) act (T) acc (T) cgg (R) gcg (A) original frameshift length = 53 frameshift length = 53 frameshifted sequence: act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 53 107 D 159 * 53 haematopoietic_and_lymphoid_tissue CEBPA 2 c.340_341delGG p.G114fs*55 length of cdnaseq = 1077 length of protseq = 358 340 341 GG 2 114 1 114 2 gg Total no. of codons in cdna seq = 359 ggc ggc prev g start g-g end g-c --- --c frameshift deletion length of cdnaseq after deletion = 1075 ter codon is tga at posn 168 Protein length after deletion = 167 Total no. of codons in del cdnaseq = 359 last codon in array is a gcg (A) ccc (P) gcg (A) ggc (G) ggc (G) ccc (P) ggc (G) ggc (G) gcc (A) gcg (A) ccc (P) gcg (A) ccc (P) cgg (R) cgg (R) cgc (R) original frameshift length = 55 frameshift length = 55 frameshifted sequence: ccc (P) cgg (R) cgg (R) cgc (R) cgt (R) cat (H) gcc (A) cgg (R) ggg (G) agc (S) gca (A) cgg (R) gcc (A) ccc (P) gcc (A) cgg (R) cta (L) cgg (R) ctg (L) cgc (R) ggc (G) cgc (R) cgg (R) cta (L) cct (P) gga (G) cgg (R) cag (Q) gct (A) gga (G) gcc (A) cct (P) gta (V) cga (R) gcg (A) cgt (R) cgg (R) ggc (G) gcc (A) ggc (G) gct (A) gcg (A) gcc (A) gct (A) ggt (G) gat (D) caa (Q) gca (A) gga (G) gcc (A) ccg (P) cga (R) gga (G) gga (G) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 55 114 G 168 * 55 haematopoietic_and_lymphoid_tissue CEBPA 2 c.39_48del10 p.P14fs*143 length of cdnaseq = 1077 length of protseq = 358 39 48 10 10 13 3 16 3 cccgatgagc Total no. of codons in cdna seq = 359 ccc agc start c-c post a end c-a cc- --- frameshift deletion length of cdnaseq after deletion = 1067 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 356 last codon in array is ga gag (E) ccg (P) cgg (R) ccc (P) agc (S) agc (S) cac (H) ctg (L) cag (Q) gag (E) ccg (P) cgg (R) cca (P) gcc (A) acc (T) tgc (C) original frameshift length = 144 frameshift length = 144 frameshifted sequence: cca (P) gcc (A) acc (T) tgc (C) aga (R) gcc (A) ccc (P) cgc (R) acg (T) cgc (R) cca (P) gca (A) gcg (A) ccg (P) cct (P) tcg (S) gct (A) ttc (F) ccc (P) ggg (G) gcg (A) cgg (R) gcc (A) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccc (P) ccg (P) atg (M) agc (S) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 143 14 P 156 * 143 haematopoietic_and_lymphoid_tissue CEBPA 2 c.539_539delC p.P180fs*138 length of cdnaseq = 1077 length of protseq = 358 539 539 C 1 180 2 180 2 c Total no. of codons in cdna seq = 359 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 317 Protein length after deletion = 316 Total no. of codons in del cdnaseq = 359 last codon in array is ga ggc (G) ctc (L) ttc (F) cct (P) cct (P) tac (Y) cag (Q) ccg (P) ccg (P) ggc (G) ctc (L) ttc (F) ctt (L) acc (T) agc (S) cgc (R) original frameshift length = 138 frameshift length = 138 frameshifted sequence: ctt (L) acc (T) agc (S) cgc (R) cgc (R) cgc (R) cgc (R) cgc (R) cgc (R) cct (P) cgc (R) acc (T) cgc (R) acc (T) cgc (R) acc (T) cgc (R) cgc (R) ccg (P) cgc (R) acc (T) tgg (W) ccg (P) ccc (P) cgc (R) acc (T) tgc (C) agt (S) tcc (S) aga (R) tcg (S) cgc (R) act (T) gcg (A) gcc (A) aga (R) cca (P) cca (P) tgc (C) acc (T) tgc (C) agc (S) ccg (P) gtc (V) acc (T) cca (P) cgc (R) cgc (R) cgc (R) cca (P) cgc (R) ccg (P) tgc (C) cca (P) gcc (A) cgc (R) acc (T) ccg (P) cgc (R) ccg (P) cgc (R) tcg (S) gtg (V) ccg (P) ccg (P) gcc (A) tgc (C) cgg (R) gcc (A) ctg (L) gca (A) gcg (A) cgc (R) tca (S) agg (R) ggc (G) tgg (W) gcg (A) ccg (P) cgc (R) acc (T) ccg (P) acc (T) tcc (S) gcg (A) cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 138 180 P 317 * 138 haematopoietic_and_lymphoid_tissue CEBPA 2 c.611_611delC p.P204fs*114 length of cdnaseq = 1077 length of protseq = 358 611 611 C 1 204 2 204 2 c Total no. of codons in cdna seq = 359 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 317 Protein length after deletion = 316 Total no. of codons in del cdnaseq = 359 last codon in array is ga ctg (L) gcc (A) gcc (A) ccg (P) ccg (P) cac (H) ctg (L) cag (Q) ttc (F) ctg (L) gcc (A) gcc (A) cgc (R) acc (T) tgc (C) agt (S) original frameshift length = 114 frameshift length = 114 frameshifted sequence: cgc (R) acc (T) tgc (C) agt (S) tcc (S) aga (R) tcg (S) cgc (R) act (T) gcg (A) gcc (A) aga (R) cca (P) cca (P) tgc (C) acc (T) tgc (C) agc (S) ccg (P) gtc (V) acc (T) cca (P) cgc (R) cgc (R) cgc (R) cca (P) cgc (R) ccg (P) tgc (C) cca (P) gcc (A) cgc (R) acc (T) ccg (P) cgc (R) ccg (P) cgc (R) tcg (S) gtg (V) ccg (P) ccg (P) gcc (A) tgc (C) cgg (R) gcc (A) ctg (L) gca (A) gcg (A) cgc (R) tca (S) agg (R) ggc (G) tgg (W) gcg (A) ccg (P) cgc (R) acc (T) ccg (P) acc (T) tcc (S) gcg (A) cga (R) gtg (V) gcg (A) gca (A) gcg (A) gcg (A) cgg (R) gca (A) agg (R) cca (P) aga (R) agt (S) cgg (R) tgg (W) aca (T) aga (R) aca (T) gca (A) acg (T) agt (S) acc (T) ggg (G) tgc (C) ggc (G) gcg (A) agc (S) gca (A) aca (T) aca (T) tcg (S) cgg (R) tgc (C) gca (A) aga (R) gcc (A) gcg (A) aca (T) agg (R) cca (P) agc (S) agc (S) gca (A) acg (T) tgg (W) aga (R) cgc (R) agc (S) aga (R) agg (R) tgc (C) tgg (W) agc (S) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 114 204 P 317 * 114 haematopoietic_and_lymphoid_tissue CEBPA 2 c.64_64delC p.P23fs*137 length of cdnaseq = 1077 length of protseq = 358 64 64 C 1 22 1 22 1 c Total no. of codons in cdna seq = 359 ccc ccc prev c start c-c end c-c --- -cc frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga ctg (L) cag (Q) agc (S) ccc (P) ccc (P) ccg (P) cac (H) gcg (A) ccc (P) ctg (L) cag (Q) agc (S) ccc (P) cgc (R) acg (T) cgc (R) original frameshift length = 138 frameshift length = 138 frameshifted sequence: ccc (P) cgc (R) acg (T) cgc (R) cca (P) gca (A) gcg (A) ccg (P) cct (P) tcg (S) gct (A) ttc (F) ccc (P) ggg (G) gcg (A) cgg (R) gcc (A) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccc (P) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 137 23 P 159 * 137 haematopoietic_and_lymphoid_tissue CEBPA 2 c.64_65delCC p.P23fs*84 length of cdnaseq = 1077 length of protseq = 358 64 65 CC 2 22 1 22 2 cc Total no. of codons in cdna seq = 359 ccc ccc prev c start c-c end c-c --- --c frameshift deletion length of cdnaseq after deletion = 1075 ter codon is tga at posn 106 Protein length after deletion = 105 Total no. of codons in del cdnaseq = 359 last codon in array is a ctg (L) cag (Q) agc (S) ccc (P) ccc (P) ccg (P) cac (H) gcg (A) ccc (P) ctg (L) cag (Q) agc (S) ccc (P) gca (A) cgc (R) gcc (A) original frameshift length = 85 frameshift length = 85 frameshifted sequence: ccc (P) gca (A) cgc (R) gcc (A) cag (Q) cag (Q) cgc (R) cgc (R) ctt (L) cgg (R) ctt (L) tcc (S) ccg (P) ggg (G) cgc (R) ggg (G) ccc (P) cgc (R) gca (A) gcc (A) tcc (S) cgc (R) ccc (P) acc (T) tgc (C) cgc (R) ccc (P) gga (G) gcc (A) gct (A) ggg (G) cgg (R) cat (H) ctg (L) cga (R) gca (A) cga (R) gac (D) gtc (V) cat (H) cga (R) cat (H) cag (Q) cgc (R) cta (L) cat (H) cga (R) ccc (P) ggc (G) cgc (R) ctt (L) caa (Q) cga (R) cga (R) gtt (V) cct (P) ggc (G) cga (R) cct (P) gtt (V) cca (P) gca (A) cag (Q) ccg (P) gca (A) gca (A) gga (G) gaa (E) ggc (G) caa (Q) ggc (G) ggc (G) cgt (R) ggg (G) ccc (P) cac (H) ggg (G) cgg (R) cgg (R) cgg (R) cgg (R) cgg (R) cga (R) ctt (L) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccc (P) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 84 23 P 106 * 84 haematopoietic_and_lymphoid_tissue CEBPA 2 c.974_975delGC p.R325fs*35 length of cdnaseq = 1077 length of protseq = 358 974 975 GC 2 325 2 325 3 gc Total no. of codons in cdna seq = 359 cgc cgc start c-g post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 1075 Total no. of codons in del cdnaseq = 359 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 358 gac (D) cgc (R) ctg (L) cgc (R) cgc (R) aag (K) cgg (R) gtg (V) gaa (E) gac (D) cgc (R) ctg (L) caa (Q) gcg (A) ggt (G) gga (G) original frameshift length = 35 frameshift length = 34 frameshifted sequence: caa (Q) gcg (A) ggt (G) gga (G) aca (T) gct (A) gag (E) ccg (P) cga (R) act (T) gga (G) cac (H) gct (A) gcg (A) ggg (G) cat (H) ctt (L) ccg (P) cca (P) gct (A) gcc (A) aga (R) gag (E) ctc (L) ctt (L) ggt (G) caa (Q) ggc (G) cat (H) ggg (G) caa (Q) ctg (L) cgc (R) gtg (V) a (end) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 34 325 R 359 * 35 haematopoietic_and_lymphoid_tissue CEBPA 3 c.102_111del10 p.R35fs*122 length of cdnaseq = 1077 length of protseq = 358 102 111 10 10 34 3 37 3 ccggggcgcg Total no. of codons in cdna seq = 359 ccc gcg start c-c post g end g-g cc- --- frameshift deletion length of cdnaseq after deletion = 1067 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 356 last codon in array is ga ttc (F) ggc (G) ttt (F) ccc (P) gcg (A) ggc (G) ccc (P) gcg (A) cag (Q) ttc (F) ggc (G) ttt (F) ccg (P) gcc (A) ccg (P) cgc (R) original frameshift length = 123 frameshift length = 123 frameshifted sequence: ccg (P) gcc (A) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccc (P) cgg (R) ggc (G) gcg (A) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 122 35 R 156 * 122 haematopoietic_and_lymphoid_tissue CEBPA 3 c.117_117delC p.A40fs*120 length of cdnaseq = 1077 length of protseq = 358 117 117 C 1 39 3 39 3 c Total no. of codons in cdna seq = 359 ccc ccc start c-c post g end c-g cc- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga ggc (G) gcg (A) ggc (G) ccc (P) ccc (P) gcg (A) cag (Q) cct (P) ccc (P) ggc (G) gcg (A) ggc (G) ccg (P) cgc (R) agc (S) ctc (L) original frameshift length = 121 frameshift length = 121 frameshifted sequence: ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 120 40 A 159 * 120 haematopoietic_and_lymphoid_tissue CEBPA 3 c.246delC p.F82fs*78 length of cdnaseq = 1077 length of protseq = 358 246 246 C 1 82 3 82 3 c Total no. of codons in cdna seq = 359 ttc ttc start t-c post c end c-c tt- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga gcc (A) gac (D) ctg (L) ttc (F) ttc (F) cag (Q) cac (H) agc (S) cgg (R) gcc (A) gac (D) ctg (L) ttc (F) agc (S) aca (T) gcc (A) original frameshift length = 78 frameshift length = 78 frameshifted sequence: ttc (F) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttc (F) ttc (F) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 77 82 F 159 * 78 Q F 3 haematopoietic_and_lymphoid_tissue CEBPA c.246delC p.F82fs*78 haematopoietic_and_lymphoid_tissue CEBPA 4 c.107_107delG p.G36fs*124 length of cdnaseq = 1077 length of protseq = 358 107 107 G 1 36 2 36 2 g Total no. of codons in cdna seq = 359 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga ttt (F) ccc (P) cgg (R) ggc (G) ggc (G) gcg (A) ggc (G) ccc (P) gcg (A) ttt (F) ccc (P) cgg (R) gcg (A) cgg (R) gcc (A) ccg (P) original frameshift length = 124 frameshift length = 124 frameshifted sequence: gcg (A) cgg (R) gcc (A) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 124 36 G 159 * 124 haematopoietic_and_lymphoid_tissue CEBPA 6 c.63_63delC p.S21fs*139 length of cdnaseq = 1077 length of protseq = 358 63 63 C 1 21 3 21 3 c Total no. of codons in cdna seq = 359 agc agc start g-c post c end c-c ag- --- frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga cac (H) ctg (L) cag (Q) agc (S) agc (S) ccc (P) ccg (P) cac (H) gcg (A) cac (H) ctg (L) cag (Q) agc (S) ccc (P) cgc (R) acg (T) original frameshift length = 139 frameshift length = 139 frameshifted sequence: agc (S) ccc (P) cgc (R) acg (T) cgc (R) cca (P) gca (A) gcg (A) ccg (P) cct (P) tcg (S) gct (A) ttc (F) ccc (P) ggg (G) gcg (A) cgg (R) gcc (A) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agc (S) agc (S) matching aa in delstart region of wt and deletion mutant: ccc (P) ccc (P) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 137 21 S 159 * 139 P S 6 haematopoietic_and_lymphoid_tissue CEBPA c.63_63delC p.S21fs*139 haematopoietic_and_lymphoid_tissue CEBPA 7 c.68_68delC p.P23fs*137 length of cdnaseq = 1077 length of protseq = 358 68 68 C 1 23 2 23 2 c Total no. of codons in cdna seq = 359 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1076 ter codon is tga at posn 159 Protein length after deletion = 158 Total no. of codons in del cdnaseq = 359 last codon in array is ga cag (Q) agc (S) ccc (P) ccg (P) ccg (P) cac (H) gcg (A) ccc (P) agc (S) cag (Q) agc (S) ccc (P) cgc (R) acg (T) cgc (R) cca (P) original frameshift length = 137 frameshift length = 137 frameshifted sequence: cgc (R) acg (T) cgc (R) cca (P) gca (A) gcg (A) ccg (P) cct (P) tcg (S) gct (A) ttc (F) ccc (P) ggg (G) gcg (A) cgg (R) gcc (A) ccg (P) cgc (R) agc (S) ctc (L) ccg (P) ccc (P) cac (H) ctg (L) ccg (P) ccc (P) cgg (R) agc (S) cgc (R) tgg (W) gcg (A) gca (A) tct (S) gcg (A) agc (S) acg (T) aga (R) cgt (R) cca (P) tcg (S) aca (T) tca (S) gcg (A) cct (P) aca (T) tcg (S) acc (T) cgg (R) ccg (P) cct (P) tca (S) acg (T) acg (T) agt (S) tcc (S) tgg (W) ccg (P) acc (T) tgt (C) tcc (S) agc (S) aca (T) gcc (A) ggc (G) agc (S) agg (R) aga (R) agg (R) cca (P) agg (R) cgg (R) ccg (P) tgg (W) gcc (A) cca (P) cgg (R) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) gcg (A) act (T) ttg (L) act (T) acc (T) cgg (R) gcg (A) cgc (R) ccg (P) cgg (R) gcc (A) ccg (P) gcg (A) gcg (A) ccg (P) tca (S) tgc (C) ccg (P) ggg (G) gag (E) cgc (R) acg (T) ggc (G) ccc (P) cgc (R) ccg (P) gct (A) acg (T) gct (A) gcg (A) cgg (R) ccg (P) ccg (P) gct (A) acc (T) tgg (W) acg (T) gca (A) ggc (G) tgg (W) agc (S) ccc (P) tgt (C) acg (T) agc (S) gcg (A) tcg (S) ggg (G) cgc (R) cgg (R) cgc (R) tgc (C) ggc (G) cgc (R) tgg (W) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 137 23 P 159 * 137 breast CTNNA1 1 c.302_588del287 p.D102fs*8 length of cdnaseq = 2721 length of protseq = 906 302 588 287 287 101 2 196 3 gtgatttgatgaaggctgctgcaggagagttcgcagatgatccctgctcttctgtgaagcgaggcaacatggttcgggcagctcgagctttgctctctgctgttacccggttgctgattttggctgacatggcagatgtctacaaattacttgttcagctgaaagttgtggaagatggtatcttgaagttgaggaatgctggcaatgaacaagacttaggaatccagtataaagccctaaaacctgaagtggataagctgaacattatggcagccaaaagacaacag Total no. of codons in cdna seq = 907 ggt cag start g-g post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 2434 ter codon is tga at posn 109 Protein length after deletion = 108 Total no. of codons in del cdnaseq = 812 last codon in array is a cga (R) aaa (K) caa (Q) ggt (G) cag (Q) gaa (E) ttg (L) aaa (K) gat (D) cga (R) aaa (K) caa (Q) gga (G) att (I) gaa (E) aga (R) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gga (G) att (I) gaa (E) aga (R) tgt (C) tgg (W) cca (P) tcg (S) tga (TER) wild type sequence in deletion region: ggt (G) gat (D) ttg (L) atg (M) aag (K) gct (A) gct (A) gca (A) gga (G) gag (E) ttc (F) gca (A) gat (D) gat (D) ccc (P) tgc (C) tct (S) tct (S) gtg (V) aag (K) cga (R) ggc (G) aac (N) atg (M) gtt (V) cgg (R) gca (A) gct (A) cga (R) gct (A) ttg (L) ctc (L) tct (S) gct (A) gtt (V) acc (T) cgg (R) ttg (L) ctg (L) att (I) ttg (L) gct (A) gac (D) atg (M) gca (A) gat (D) gtc (V) tac (Y) aaa (K) tta (L) ctt (L) gtt (V) cag (Q) ctg (L) aaa (K) gtt (V) gtg (V) gaa (E) gat (D) ggt (G) atc (I) ttg (L) aag (K) ttg (L) agg (R) aat (N) gct (A) ggc (G) aat (N) gaa (E) caa (Q) gac (D) tta (L) gga (G) atc (I) cag (Q) tat (Y) aaa (K) gcc (A) cta (L) aaa (K) cct (P) gaa (E) gtg (V) gat (D) aag (K) ctg (L) aac (N) att (I) atg (M) gca (A) gcc (A) aaa (K) aga (R) caa (Q) cag (Q) wt frameshift deln region length = 96 matching aa in delstart region of wt and deletion mutant: ggt (G) gga (G) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 8 102 D 109 * 8 cervix CTNNB1 1 c.134delC p.S45fs*2 length of cdnaseq = 2346 length of protseq = 781 134 134 C 1 45 2 45 2 c Total no. of codons in cdna seq = 782 tct tct start t-c end c-t t-- --t frameshift deletion length of cdnaseq after deletion = 2345 ter codon is tga at posn 46 Protein length after deletion = 45 Total no. of codons in del cdnaseq = 782 last codon in array is aa aca (T) gct (A) cct (P) tct (S) tct (S) ctg (L) agt (S) ggt (G) aaa (K) aca (T) gct (A) cct (P) ttc (F) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ttc (F) tga (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 2 45 S 46 * 2 liver CTNNB1 1 c.94_112del19 p.D32fs*9 length of cdnaseq = 2346 length of protseq = 781 94 112 19 19 32 1 38 1 gactctggaatccattctg Total no. of codons in cdna seq = 782 gac ggt prev g start g-g end g-g --- -gt frameshift deletion length of cdnaseq after deletion = 2327 ter codon is tga at posn 40 Protein length after deletion = 39 Total no. of codons in del cdnaseq = 776 last codon in array is aa tct (S) tac (Y) ctg (L) gac (D) ggt (G) gcc (A) act (T) acc (T) aca (T) tct (S) tac (Y) ctg (L) gtg (V) cca (P) cta (L) cca (P) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gtg (V) cca (P) cta (L) cca (P) cag (Q) ctc (L) ctt (L) ctc (L) tga (TER) wild type sequence in deletion region: gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 9 32 D 40 * 9 large_intestine CTNNB1 2 c.14_126del113 p.A5fs*7 length of cdnaseq = 2346 length of protseq = 781 14 126 113 113 5 2 42 3 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccaca Total no. of codons in cdna seq = 782 gct aca start g-c post g end a-g g-- --- frameshift deletion length of cdnaseq after deletion = 2233 ter codon is taa at posn 11 Protein length after deletion = 10 Total no. of codons in del cdnaseq = 745 last codon in array is a gct (A) act (T) caa (Q) gct (A) aca (T) gct (A) cct (P) tct (S) ctg (L) gct (A) act (T) caa (Q) ggc (G) tcc (S) ttc (F) tct (S) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ggc (G) tcc (S) ttc (F) tct (S) gag (E) tgg (W) taa (TER) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) wt frameshift deln region length = 38 first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 7 5 A 11 * 7 small_intestine CTNNB1 1 c.14_251del238 p.A5_G80> length of cdnaseq = 2346 length of protseq = 781 14 251 238 238 5 2 84 2 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatgg Total no. of codons in cdna seq = 782 gct gga start g-c end g-a g-- --a frameshift deletion length of cdnaseq after deletion = 2108 ter codon is tga at posn 9 Protein length after deletion = 8 Total no. of codons in del cdnaseq = 703 last codon in array is aa gct (A) act (T) caa (Q) gct (A) gga (G) cag (Q) tat (Y) gca (A) atg (M) gct (A) act (T) caa (Q) gac (D) agt (S) atg (M) caa (Q) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gac (D) agt (S) atg (M) caa (Q) tga (TER) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) wt frameshift deln region length = 80 first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 5 5 A 80 G > endometrium CTNNB1 3 c.125_126delCA p.T42fs*7 length of cdnaseq = 2346 length of protseq = 781 125 126 CA 2 42 2 42 3 ca Total no. of codons in cdna seq = 782 aca aca start a-c post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 2344 ter codon is taa at posn 48 Protein length after deletion = 47 Total no. of codons in del cdnaseq = 782 last codon in array is a gcc (A) act (T) acc (T) aca (T) aca (T) gct (A) cct (P) tct (S) ctg (L) gcc (A) act (T) acc (T) agc (S) tcc (S) ttc (F) tct (S) original frameshift length = 7 frameshift length = 7 frameshifted sequence: agc (S) tcc (S) ttc (F) tct (S) gag (E) tgg (W) taa (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 7 42 T 48 * 7 kidney DDB2 1 c.462_463delAG p.A155fs*10 length of cdnaseq = 1284 length of protseq = 427 462 463 AG 2 154 3 155 1 ag Total no. of codons in cdna seq = 428 gga gct start g-a end g-c gg- -ct frameshift deletion length of cdnaseq after deletion = 1282 ter codon is taa at posn 164 Protein length after deletion = 163 Total no. of codons in del cdnaseq = 428 last codon in array is a aaa (K) ggg (G) att (I) gga (G) gct (A) gga (G) ggg (G) agc (S) atc (I) aaa (K) ggg (G) att (I) ggc (G) tgg (W) agg (R) gag (E) original frameshift length = 11 frameshift length = 11 frameshifted sequence: ggc (G) tgg (W) agg (R) gag (E) cat (H) cac (H) tgg (W) gct (A) gaa (E) gtt (V) taa (TER) wild type sequence in deletion region: gga (G) gct (A) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gga (G) ggc (G) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 10 155 A 164 * 10 lung EGFR 1 c.2125_2129delGAAAC p.E709fs*1 length of cdnaseq = 3633 length of protseq = 1210 2125 2129 GAAAC 5 709 1 710 2 gaaac Total no. of codons in cdna seq = 1211 gaa act prev g start g-g end c-t --- --t frameshift deletion length of cdnaseq after deletion = 3628 ter codon is tga at posn 709 Protein length after deletion = 708 Total no. of codons in del cdnaseq = 1210 last codon in array is a atc (I) ttg (L) aag (K) gaa (E) act (T) gaa (E) ttc (F) aaa (K) aag (K) atc (I) ttg (L) aag (K) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: gaa (E) act (T) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 1 709 E 709 * 1 lung EGFR 1 c.2156_2156delG p.G719fs*29 length of cdnaseq = 3633 length of protseq = 1210 2156 2156 G 1 719 2 719 2 g Total no. of codons in cdna seq = 1211 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 3632 ter codon is taa at posn 747 Protein length after deletion = 746 Total no. of codons in del cdnaseq = 1211 last codon in array is ga aaa (K) gtg (V) ctg (L) ggc (G) ggc (G) tcc (S) ggt (G) gcg (A) ttc (F) aaa (K) gtg (V) ctg (L) gct (A) ccg (P) gtg (V) cgt (R) original frameshift length = 29 frameshift length = 29 frameshifted sequence: gct (A) ccg (P) gtg (V) cgt (R) tcg (S) gca (A) cgg (R) tgt (C) ata (I) agg (R) gac (D) tct (S) gga (G) tcc (S) cag (Q) aag (K) gtg (V) aga (R) aag (K) tta (L) aaa (K) ttc (F) ccg (P) tcg (S) cta (L) tca (S) agg (R) aat (N) taa (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 29 719 G 747 * 29 kidney FAM123B 1 c.1069_1069delA p.K357fs*7 length of cdnaseq = 2415 length of protseq = 804 1069 1069 A 1 357 1 357 1 a Total no. of codons in cdna seq = 805 aag aag prev c start c-a end a-a --- -ag frameshift deletion length of cdnaseq after deletion = 2414 ter codon is tga at posn 363 Protein length after deletion = 362 Total no. of codons in del cdnaseq = 805 last codon in array is ag gat (D) ggg (G) acc (T) aag (K) aag (K) cga (R) agt (S) tcc (S) tgc (C) gat (D) ggg (G) acc (T) agc (S) gaa (E) gtt (V) cct (P) original frameshift length = 7 frameshift length = 7 frameshifted sequence: agc (S) gaa (E) gtt (V) cct (P) gcc (A) tgg (W) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 7 357 K 363 * 7 kidney FAM123B 1 c.1084_1084delC p.L362fs*2 length of cdnaseq = 2415 length of protseq = 804 1084 1084 C 1 362 1 362 1 c Total no. of codons in cdna seq = 805 ctg ctg prev c start c-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 2414 ter codon is tga at posn 363 Protein length after deletion = 362 Total no. of codons in del cdnaseq = 805 last codon in array is ag agt (S) tcc (S) tgc (C) ctg (L) ctg (L) gtg (V) acc (T) tac (Y) caa (Q) agt (S) tcc (S) tgc (C) tgg (W) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: tgg (W) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 2 362 L 363 * 2 kidney FAM123B 1 c.1648_1648delC p.P550fs*12 length of cdnaseq = 2415 length of protseq = 804 1648 1648 C 1 550 1 550 1 c Total no. of codons in cdna seq = 805 cca cca prev g start g-c end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 2414 ter codon is tag at posn 561 Protein length after deletion = 560 Total no. of codons in del cdnaseq = 805 last codon in array is ag tcc (S) tcc (S) cgg (R) cca (P) cca (P) cct (P) ggg (G) gca (A) atg (M) tcc (S) tcc (S) cgg (R) cac (H) ctg (L) ggg (G) caa (Q) original frameshift length = 12 frameshift length = 12 frameshifted sequence: cac (H) ctg (L) ggg (G) caa (Q) tgg (W) aga (R) cag (Q) agg (R) aag (K) aac (N) ggc (G) tag (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 12 550 P 561 * 12 kidney FAM123B 1 c.1670_1671delAG p.E557fs*22 length of cdnaseq = 2415 length of protseq = 804 1670 1671 AG 2 557 2 557 3 ag Total no. of codons in cdna seq = 805 gag gag start g-a post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 2413 ter codon is tga at posn 578 Protein length after deletion = 577 Total no. of codons in del cdnaseq = 805 last codon in array is g atg (M) gag (E) aca (T) gag (E) gag (E) gaa (E) gaa (E) cgg (R) cta (L) atg (M) gag (E) aca (T) gga (G) aga (R) acg (T) gct (A) original frameshift length = 22 frameshift length = 22 frameshifted sequence: gga (G) aga (R) acg (T) gct (A) agt (S) gac (D) cat (H) cca (P) gaa (E) aca (T) gtt (V) gtt (V) gta (V) ttg (L) gga (G) gct (A) tcg (S) gcg (A) gga (G) gca (A) gct (A) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 22 557 E 578 * 22 kidney FANCC 1 c.242delT p.L81fs*1 length of cdnaseq = 1674 length of protseq = 557 242 242 T 1 81 2 81 2 t Total no. of codons in cdna seq = 558 tta tta start t-t end t-a t-- --a frameshift deletion length of cdnaseq after deletion = 1673 ter codon is tag at posn 81 Protein length after deletion = 80 Total no. of codons in del cdnaseq = 558 last codon in array is ag cct (P) ttt (F) att (I) tta (L) tta (L) gca (A) tat (Y) gat (D) gaa (E) cct (P) ttt (F) att (I) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 1 81 L 81 * 1 haematopoietic_and_lymphoid_tissue FBXW7 1 c.1958_1958delC p.T653fs*8 length of cdnaseq = 2124 length of protseq = 707 1958 1958 C 1 653 2 653 2 c Total no. of codons in cdna seq = 708 acg acg start a-c end c-g a-- --g frameshift deletion length of cdnaseq after deletion = 2123 ter codon is tag at posn 660 Protein length after deletion = 659 Total no. of codons in del cdnaseq = 708 last codon in array is ga gac (D) ttg (L) aaa (K) acg (T) acg (T) ggt (G) gaa (E) ttt (F) att (I) gac (D) ttg (L) aaa (K) agg (R) gtg (V) aat (N) tta (L) original frameshift length = 8 frameshift length = 8 frameshifted sequence: agg (R) gtg (V) aat (N) tta (L) ttc (F) gaa (E) acc (T) tag (TER) wild type sequence in deletion region: acg (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 8 653 T 660 * 8 large_intestine FBXW7 1 c.2001_2001delG p.S668fs*39 length of cdnaseq = 2124 length of protseq = 707 2001 2001 G 1 667 3 667 3 g Total no. of codons in cdna seq = 708 ggg ggg start g-g post a end g-a gg- --- frameshift deletion length of cdnaseq after deletion = 2123 ter codon is tga at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 708 last codon in array is ga gag (E) agt (S) ggg (G) ggg (G) ggg (G) agt (S) ggg (G) gga (G) gtt (V) gag (E) agt (S) ggg (G) gga (G) gtg (V) ggg (G) gag (E) original frameshift length = 40 frameshift length = 40 frameshifted sequence: gga (G) gtg (V) ggg (G) gag (E) ttg (L) tgt (C) ggc (G) gga (G) tca (S) gag (E) cct (P) caa (Q) aca (T) caa (Q) agc (S) tgg (W) tgt (C) gtg (V) cag (Q) ttg (L) gga (G) gtc (V) gga (G) atg (M) gga (G) ctg (L) aag (K) aaa (K) cca (P) agc (S) tgc (C) tgg (W) tgc (C) tgg (W) act (T) ttg (L) atg (M) tgg (W) aca (T) tga (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 39 668 S 706 * 39 NS FBXW7 1 c.1417_1417delA p.R473fs*25 length of cdnaseq = 2124 length of protseq = 707 1417 1417 A 1 473 1 473 1 a Total no. of codons in cdna seq = 708 aga aga prev a start a-a end a-g --- -ga frameshift deletion length of cdnaseq after deletion = 2123 ter codon is tga at posn 497 Protein length after deletion = 496 Total no. of codons in del cdnaseq = 708 last codon in array is ga cat (H) gaa (E) aaa (K) aga (R) aga (R) gtt (V) gtt (V) agc (S) ggt (G) cat (H) gaa (E) aaa (K) gag (E) ttg (L) tta (L) gcg (A) original frameshift length = 25 frameshift length = 25 frameshifted sequence: gag (E) ttg (L) tta (L) gcg (A) gtt (V) ctc (L) gag (E) atg (M) cca (P) ctc (L) tta (L) ggg (G) ttt (F) ggg (G) ata (I) ttg (L) aga (R) cag (Q) gcc (A) agt (S) gtt (V) tac (Y) atg (M) ttt (F) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 25 473 R 497 * 25 ovary FBXW7 1 c.1417_1417delA p.R473fs*25 length of cdnaseq = 2124 length of protseq = 707 1417 1417 A 1 473 1 473 1 a Total no. of codons in cdna seq = 708 aga aga prev a start a-a end a-g --- -ga frameshift deletion length of cdnaseq after deletion = 2123 ter codon is tga at posn 497 Protein length after deletion = 496 Total no. of codons in del cdnaseq = 708 last codon in array is ga cat (H) gaa (E) aaa (K) aga (R) aga (R) gtt (V) gtt (V) agc (S) ggt (G) cat (H) gaa (E) aaa (K) gag (E) ttg (L) tta (L) gcg (A) original frameshift length = 25 frameshift length = 25 frameshifted sequence: gag (E) ttg (L) tta (L) gcg (A) gtt (V) ctc (L) gag (E) atg (M) cca (P) ctc (L) tta (L) ggg (G) ttt (F) ggg (G) ata (I) ttg (L) aga (R) cag (Q) gcc (A) agt (S) gtt (V) tac (Y) atg (M) ttt (F) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 25 473 R 497 * 25 prostate FBXW7 1 c.540_540delT p.S182fs*57 length of cdnaseq = 2124 length of protseq = 707 540 540 T 1 180 3 180 3 t Total no. of codons in cdna seq = 708 tct tct start c-t post t end t-t tc- --- frameshift deletion length of cdnaseq after deletion = 2123 ter codon is taa at posn 238 Protein length after deletion = 237 Total no. of codons in del cdnaseq = 708 last codon in array is ga gag (E) gtc (V) cgc (R) tct (S) tct (S) ttt (F) tct (S) ttg (L) gga (G) gag (E) gtc (V) cgc (R) tct (S) ttt (F) ctt (L) tgg (W) original frameshift length = 59 frameshift length = 59 frameshifted sequence: tct (S) ttt (F) ctt (L) tgg (W) gaa (E) aga (R) aac (N) cat (H) gca (A) aag (K) tct (S) cag (Q) aat (N) ata (I) caa (Q) gta (V) cca (P) ctg (L) ggc (G) ttg (L) tac (Y) cat (H) gtt (V) cag (Q) caa (Q) cac (H) caa (Q) caa (Q) ctt (L) ttg (L) ggg (G) acc (T) tca (S) gag (E) cag (Q) cca (P) atg (M) gcc (A) aag (K) ggc (G) aac (N) aac (N) gac (D) gcc (A) gaa (E) tta (L) cat (H) ctg (L) tcc (S) agc (S) cac (H) cta (L) cag (Q) gcc (A) tcc (S) agg (R) aat (N) ggc (G) taa (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tct (S) tct (S) matching aa in delstart region of wt and deletion mutant: ttt (F) ttt (F) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 57 182 S 238 * 57 stomach FBXW7 1 c.1996_1996delG p.S668fs*39 length of cdnaseq = 2124 length of protseq = 707 1996 1996 G 1 666 1 666 1 g Total no. of codons in cdna seq = 708 ggg ggg prev t start t-g end g-g --- -gg frameshift deletion length of cdnaseq after deletion = 2123 ter codon is tga at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 708 last codon in array is ga ttg (L) gag (E) agt (S) ggg (G) ggg (G) ggg (G) agt (S) ggg (G) gga (G) ttg (L) gag (E) agt (S) ggg (G) gga (G) gtg (V) ggg (G) original frameshift length = 41 frameshift length = 41 frameshifted sequence: ggg (G) gga (G) gtg (V) ggg (G) gag (E) ttg (L) tgt (C) ggc (G) gga (G) tca (S) gag (E) cct (P) caa (Q) aca (T) caa (Q) agc (S) tgg (W) tgt (C) gtg (V) cag (Q) ttg (L) gga (G) gtc (V) gga (G) atg (M) gga (G) ctg (L) aag (K) aaa (K) cca (P) agc (S) tgc (C) tgg (W) tgc (C) tgg (W) act (T) ttg (L) atg (M) tgg (W) aca (T) tga (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) ggg (G) matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 39 668 S 706 * 39 cervix FGFR3 1 c.850delC p.H284fs*10 length of cdnaseq = 2421 length of protseq = 806 850 850 C 1 284 1 284 1 c Total no. of codons in cdna seq = 807 cac cac prev c start c-c end c-a --- -ac frameshift deletion length of cdnaseq after deletion = 2420 ter codon is tga at posn 293 Protein length after deletion = 292 Total no. of codons in del cdnaseq = 807 last codon in array is ga gca (A) cag (Q) ccc (P) cac (H) cac (H) atc (I) cag (Q) tgg (W) ctc (L) gca (A) cag (Q) ccc (P) aca (T) tcc (S) agt (S) ggc (G) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aca (T) tcc (S) agt (S) ggc (G) tca (S) agc (S) acg (T) tgg (W) agg (R) tga (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 10 284 H 293 * 10 large_intestine FGFR3 1 c.850delC p.H284fs*10 length of cdnaseq = 2421 length of protseq = 806 850 850 C 1 284 1 284 1 c Total no. of codons in cdna seq = 807 cac cac prev c start c-c end c-a --- -ac frameshift deletion length of cdnaseq after deletion = 2420 ter codon is tga at posn 293 Protein length after deletion = 292 Total no. of codons in del cdnaseq = 807 last codon in array is ga gca (A) cag (Q) ccc (P) cac (H) cac (H) atc (I) cag (Q) tgg (W) ctc (L) gca (A) cag (Q) ccc (P) aca (T) tcc (S) agt (S) ggc (G) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aca (T) tcc (S) agt (S) ggc (G) tca (S) agc (S) acg (T) tgg (W) agg (R) tga (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 10 284 H 293 * 10 urinary_tract FGFR3 1 c.2349_2350delAG p.D785fs*23 length of cdnaseq = 2421 length of protseq = 806 2349 2350 AG 2 783 3 784 1 ag Total no. of codons in cdna seq = 807 tca ggg start c-a end g-g tc- -gg frameshift deletion length of cdnaseq after deletion = 2419 Total no. of codons in del cdnaseq = 807 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 806 tcc (S) agc (S) tcc (S) tca (S) ggg (G) gac (D) gac (D) tcc (S) gtg (V) tcc (S) agc (S) tcc (S) tcg (S) gga (G) cga (R) ctc (L) original frameshift length = 25 frameshift length = 24 frameshifted sequence: tcg (S) gga (G) cga (R) ctc (L) cgt (R) gtt (V) tgc (C) cca (P) cga (R) cct (P) gct (A) gcc (A) ccc (P) ggc (G) ccc (P) acc (T) cag (Q) cag (Q) tgg (W) ggg (G) ctc (L) gcg (A) gac (D) gtg (V) a (end) wild type sequence in deletion region: tca (S) ggg (G) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tca (S) tcg (S) matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 22 785 D 807 * 23 haematopoietic_and_lymphoid_tissue FLT3 1 c.2654_2753del100 p.G885fs*4 length of cdnaseq = 2982 length of protseq = 993 2654 2753 100 100 885 2 918 2 gtgtgaatccttaccctggcattccggttgatgctaacttctacaaactgattcaaaatggatttaaaatggatcagccattttatgctacagaagaaat Total no. of codons in cdna seq = 994 ggt ata start g-g end t-a g-- --a frameshift deletion length of cdnaseq after deletion = 2882 ter codon is taa at posn 888 Protein length after deletion = 887 Total no. of codons in del cdnaseq = 961 last codon in array is ag ttc (F) tca (S) ctt (L) ggt (G) ata (I) tac (Y) att (I) ata (I) atg (M) ttc (F) tca (S) ctt (L) gat (D) aca (T) tta (L) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gat (D) aca (T) tta (L) taa (TER) wild type sequence in deletion region: ggt (G) gtg (V) aat (N) cct (P) tac (Y) cct (P) ggc (G) att (I) ccg (P) gtt (V) gat (D) gct (A) aac (N) ttc (F) tac (Y) aaa (K) ctg (L) att (I) caa (Q) aat (N) gga (G) ttt (F) aaa (K) atg (M) gat (D) cag (Q) cca (P) ttt (F) tat (Y) gct (A) aca (T) gaa (E) gaa (E) ata (I) wt frameshift deln region length = 34 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 4 885 G 888 * 4 haematopoietic_and_lymphoid_tissue GATA1 16 c.90_91delAG p.S30fs*9 length of cdnaseq = 1242 length of protseq = 413 90 91 AG 2 30 3 31 1 ag Total no. of codons in cdna seq = 414 tca ggg start c-a end g-g tc- -gg frameshift deletion length of cdnaseq after deletion = 1240 ter codon is tga at posn 38 Protein length after deletion = 37 Total no. of codons in del cdnaseq = 414 last codon in array is a aca (T) cca (P) gaa (E) tca (S) ggg (G) gtt (V) ttc (F) ttc (F) ccc (P) aca (T) cca (P) gaa (E) tcg (S) ggt (G) ttt (F) ctt (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: tcg (S) ggt (G) ttt (F) ctt (L) ccc (P) ctc (L) tgg (W) gcc (A) tga (TER) wild type sequence in deletion region: tca (S) ggg (G) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tca (S) tcg (S) matching aa in delstart region of wt and deletion mutant: ggg (G) ggt (G) first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 7 30 S 38 * 9 V S 16 haematopoietic_and_lymphoid_tissue GATA1 c.90_91delAG p.S30fs*9 haematopoietic_and_lymphoid_tissue GATA1 1 c.121_131del11 p.L41fs*23 length of cdnaseq = 1242 length of protseq = 413 121 131 11 11 41 1 44 2 ttggatgcagc Total no. of codons in cdna seq = 414 ttg gca prev c start c-t end c-a --- --a frameshift deletion length of cdnaseq after deletion = 1231 ter codon is tga at posn 63 Protein length after deletion = 62 Total no. of codons in del cdnaseq = 411 last codon in array is a cct (P) gag (E) ggc (G) ttg (L) gca (A) gct (A) tcc (S) tcc (S) act (T) cct (P) gag (E) ggc (G) agc (S) ttc (F) ctc (L) cac (H) original frameshift length = 23 frameshift length = 23 frameshifted sequence: agc (S) ttc (F) ctc (L) cac (H) tgc (C) ccc (P) gag (E) cac (H) agc (S) cac (H) cgc (R) tgc (C) agc (S) tgc (C) ggc (G) act (T) ggc (G) cta (L) cta (L) cag (Q) gga (G) cgc (R) tga (TER) wild type sequence in deletion region: ttg (L) gat (D) gca (A) gca (A) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 23 41 L 63 * 23 haematopoietic_and_lymphoid_tissue GATA1 1 c.133_154del22 p.A45fs*85 length of cdnaseq = 1242 length of protseq = 413 133 154 22 22 45 1 52 1 gcttcctccactgccccgagca Total no. of codons in cdna seq = 414 gct aca prev a start a-g end a-c --- -ca frameshift deletion length of cdnaseq after deletion = 1220 ter codon is tga at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 407 last codon in array is ga gat (D) gca (A) gca (A) gct (A) aca (T) gcc (A) acc (T) gct (A) gca (A) gat (D) gca (A) gca (A) cag (Q) cca (P) ccg (P) ctg (L) original frameshift length = 85 frameshift length = 85 frameshifted sequence: cag (Q) cca (P) ccg (P) ctg (L) cag (Q) ctg (L) cgg (R) cac (H) tgg (W) cct (P) act (T) aca (T) ggg (G) acg (T) ctg (L) agg (R) cct (P) aca (T) gac (D) act (T) ccc (P) cag (Q) tct (S) ttc (F) agg (R) tgt (C) acc (T) cat (H) tgc (C) tca (S) act (T) gta (V) tgg (W) agg (R) gga (G) tcc (S) cag (Q) ggg (G) gct (A) cac (H) cat (H) atg (M) ccg (P) gct (A) ggg (G) cct (P) acg (T) gca (A) aga (R) cgg (R) ggc (G) tct (S) acc (T) ctg (L) cct (P) caa (Q) ctg (L) tgt (C) gtc (V) cca (P) ccc (P) gcg (A) agg (R) act (T) ctc (L) ctc (L) ccc (P) agg (R) ccg (P) tgg (W) aag (K) atc (I) tgg (W) atg (M) gaa (E) aag (K) gca (A) gca (A) cca (P) gct (A) tcc (S) tgg (W) aga (R) ctt (L) tga (TER) wild type sequence in deletion region: gct (A) tcc (S) tcc (S) act (T) gcc (A) ccg (P) agc (S) aca (T) wt frameshift deln region length = 8 first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 85 45 A 129 * 85 haematopoietic_and_lymphoid_tissue GATA1 1 c.139delT p.S47fs*90 length of cdnaseq = 1242 length of protseq = 413 139 139 T 1 47 1 47 1 t Total no. of codons in cdna seq = 414 tcc tcc prev c start c-t end t-c --- -cc frameshift deletion length of cdnaseq after deletion = 1241 ter codon is tga at posn 136 Protein length after deletion = 135 Total no. of codons in del cdnaseq = 414 last codon in array is ga gca (A) gct (A) tcc (S) tcc (S) tcc (S) act (T) gcc (A) ccg (P) agc (S) gca (A) gct (A) tcc (S) cca (P) ctg (L) ccc (P) cga (R) original frameshift length = 90 frameshift length = 90 frameshifted sequence: cca (P) ctg (L) ccc (P) cga (R) gca (A) cag (Q) cca (P) ccg (P) ctg (L) cag (Q) ctg (L) cgg (R) cac (H) tgg (W) cct (P) act (T) aca (T) ggg (G) acg (T) ctg (L) agg (R) cct (P) aca (T) gac (D) act (T) ccc (P) cag (Q) tct (S) ttc (F) agg (R) tgt (C) acc (T) cat (H) tgc (C) tca (S) act (T) gta (V) tgg (W) agg (R) gga (G) tcc (S) cag (Q) ggg (G) gct (A) cac (H) cat (H) atg (M) ccg (P) gct (A) ggg (G) cct (P) acg (T) gca (A) aga (R) cgg (R) ggc (G) tct (S) acc (T) ctg (L) cct (P) caa (Q) ctg (L) tgt (C) gtc (V) cca (P) ccc (P) gcg (A) agg (R) act (T) ctc (L) ctc (L) ccc (P) agg (R) ccg (P) tgg (W) aag (K) atc (I) tgg (W) atg (M) gaa (E) aag (K) gca (A) gca (A) cca (P) gct (A) tcc (S) tgg (W) aga (R) ctt (L) tga (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 90 47 S 136 * 90 haematopoietic_and_lymphoid_tissue GATA1 1 c.140_174del35 p.S47fs*9 length of cdnaseq = 1242 length of protseq = 413 140 174 35 35 47 2 58 3 ccactgccccgagcacagccaccgctgcagctgcg Total no. of codons in cdna seq = 414 tcc gcg start t-c post g end g-g t-- --- frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 55 Protein length after deletion = 54 Total no. of codons in del cdnaseq = 403 last codon in array is a gca (A) gct (A) tcc (S) tcc (S) gcg (A) gca (A) ctg (L) gcc (A) tac (Y) gca (A) gct (A) tcc (S) tgc (C) act (T) ggc (G) cta (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: tgc (C) act (T) ggc (G) cta (L) cta (L) cag (Q) gga (G) cgc (R) tga (TER) wild type sequence in deletion region: tcc (S) act (T) gcc (A) ccg (P) agc (S) aca (T) gcc (A) acc (T) gct (A) gca (A) gct (A) gcg (A) wt frameshift deln region length = 12 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 9 47 S 55 * 9 haematopoietic_and_lymphoid_tissue GATA1 1 c.150_184del35 p.P50fs*6 length of cdnaseq = 1242 length of protseq = 413 150 184 35 35 50 3 62 1 gagcacagccaccgctgcagctgcggcactggcct Total no. of codons in cdna seq = 414 ccg tac start c-g end t-a cc- -ac frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 55 Protein length after deletion = 54 Total no. of codons in del cdnaseq = 403 last codon in array is a tcc (S) act (T) gcc (A) ccg (P) tac (Y) tac (Y) agg (R) gac (D) gct (A) tcc (S) act (T) gcc (A) cca (P) cta (L) cag (Q) gga (G) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cca (P) cta (L) cag (Q) gga (G) cgc (R) tga (TER) wild type sequence in deletion region: ccg (P) agc (S) aca (T) gcc (A) acc (T) gct (A) gca (A) gct (A) gcg (A) gca (A) ctg (L) gcc (A) tac (Y) wt frameshift deln region length = 13 matching aa in delstart region of wt and deletion mutant: ccg (P) cca (P) first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 5 50 P 55 * 6 S P 1 haematopoietic_and_lymphoid_tissue GATA1 c.150_184del35 p.P50fs*6 haematopoietic_and_lymphoid_tissue GATA1 1 c.151_193del43 p.S51fs*72 length of cdnaseq = 1242 length of protseq = 413 151 193 43 43 51 1 65 1 agcacagccaccgctgcagctgcggcactggcctactacaggg Total no. of codons in cdna seq = 414 agc gac prev g start g-a end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 1199 ter codon is tga at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 400 last codon in array is ga act (T) gcc (A) ccg (P) agc (S) gac (D) gct (A) gag (E) gcc (A) tac (Y) act (T) gcc (A) ccg (P) acg (T) ctg (L) agg (R) cct (P) original frameshift length = 72 frameshift length = 72 frameshifted sequence: acg (T) ctg (L) agg (R) cct (P) aca (T) gac (D) act (T) ccc (P) cag (Q) tct (S) ttc (F) agg (R) tgt (C) acc (T) cat (H) tgc (C) tca (S) act (T) gta (V) tgg (W) agg (R) gga (G) tcc (S) cag (Q) ggg (G) gct (A) cac (H) cat (H) atg (M) ccg (P) gct (A) ggg (G) cct (P) acg (T) gca (A) aga (R) cgg (R) ggc (G) tct (S) acc (T) ctg (L) cct (P) caa (Q) ctg (L) tgt (C) gtc (V) cca (P) ccc (P) gcg (A) agg (R) act (T) ctc (L) ctc (L) ccc (P) agg (R) ccg (P) tgg (W) aag (K) atc (I) tgg (W) atg (M) gaa (E) aag (K) gca (A) gca (A) cca (P) gct (A) tcc (S) tgg (W) aga (R) ctt (L) tga (TER) wild type sequence in deletion region: agc (S) aca (T) gcc (A) acc (T) gct (A) gca (A) gct (A) gcg (A) gca (A) ctg (L) gcc (A) tac (Y) tac (Y) agg (R) gac (D) wt frameshift deln region length = 15 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 72 51 S 122 * 72 haematopoietic_and_lymphoid_tissue GATA1 1 c.152_210del59 p.S51fs*91 length of cdnaseq = 1242 length of protseq = 413 152 210 59 59 51 2 70 3 gcacagccaccgctgcagctgcggcactggcctactacagggacgctgaggcctacaga Total no. of codons in cdna seq = 414 agc aga start a-g post c end a-c a-- --- frameshift deletion length of cdnaseq after deletion = 1183 ter codon is tag at posn 141 Protein length after deletion = 140 Total no. of codons in del cdnaseq = 395 last codon in array is a act (T) gcc (A) ccg (P) agc (S) aga (R) cac (H) tcc (S) cca (P) gtc (V) act (T) gcc (A) ccg (P) aca (T) ctc (L) ccc (P) agt (S) original frameshift length = 91 frameshift length = 91 frameshifted sequence: aca (T) ctc (L) ccc (P) agt (S) ctt (L) tca (S) ggt (G) gta (V) ccc (P) att (I) gct (A) caa (Q) ctg (L) tat (Y) gga (G) ggg (G) gat (D) ccc (P) agg (R) ggg (G) ctc (L) acc (T) ata (I) tgc (C) cgg (R) ctg (L) ggc (G) cta (L) cgg (R) caa (Q) gac (D) ggg (G) gct (A) cta (L) ccc (P) tgc (C) ctc (L) aac (N) tgt (C) gtg (V) tcc (S) cac (H) ccg (P) cga (R) gga (G) ctc (L) tcc (S) tcc (S) cca (P) ggc (G) cgt (R) gga (G) aga (R) tct (S) gga (G) tgg (W) aaa (K) agg (R) cag (Q) cac (H) cag (Q) ctt (L) cct (P) gga (G) gac (D) ttt (F) gaa (E) gac (D) aga (R) gcg (A) gct (A) gag (E) ccc (P) aga (R) cct (P) cct (P) gac (D) cct (P) ggg (G) acc (T) tgc (C) act (T) gcc (A) ttc (F) atc (I) act (T) ccc (P) tgt (C) ccc (P) caa (Q) tag (TER) wild type sequence in deletion region: agc (S) aca (T) gcc (A) acc (T) gct (A) gca (A) gct (A) gcg (A) gca (A) ctg (L) gcc (A) tac (Y) tac (Y) agg (R) gac (D) gct (A) gag (E) gcc (A) tac (Y) aga (R) wt frameshift deln region length = 20 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 91 51 S 141 * 91 haematopoietic_and_lymphoid_tissue GATA1 1 c.153_175del23 p.A53fs*7 length of cdnaseq = 1242 length of protseq = 413 153 175 23 23 51 3 59 1 cacagccaccgctgcagctgcgg Total no. of codons in cdna seq = 414 agc gca start g-c end g-c ag- -ca frameshift deletion length of cdnaseq after deletion = 1219 ter codon is tga at posn 59 Protein length after deletion = 58 Total no. of codons in del cdnaseq = 407 last codon in array is a act (T) gcc (A) ccg (P) agc (S) gca (A) ctg (L) gcc (A) tac (Y) tac (Y) act (T) gcc (A) ccg (P) agc (S) act (T) ggc (G) cta (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: agc (S) act (T) ggc (G) cta (L) cta (L) cag (Q) gga (G) cgc (R) tga (TER) wild type sequence in deletion region: agc (S) aca (T) gcc (A) acc (T) gct (A) gca (A) gct (A) gcg (A) gca (A) wt frameshift deln region length = 9 matching aa in delstart region of wt and deletion mutant: agc (S) agc (S) matching aa in delstart region of wt and deletion mutant: aca (T) act (T) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 7 53 A 59 * 7 haematopoietic_and_lymphoid_tissue GATA1 1 c.162_178del17 p.T54fs*8 length of cdnaseq = 1242 length of protseq = 413 162 178 17 17 54 3 60 1 cgctgcagctgcggcac Total no. of codons in cdna seq = 414 acc ctg start c-c end c-t ac- -tg frameshift deletion length of cdnaseq after deletion = 1225 ter codon is tga at posn 61 Protein length after deletion = 60 Total no. of codons in del cdnaseq = 409 last codon in array is a agc (S) aca (T) gcc (A) acc (T) ctg (L) gcc (A) tac (Y) tac (Y) agg (R) agc (S) aca (T) gcc (A) act (T) ggc (G) cta (L) cta (L) original frameshift length = 8 frameshift length = 8 frameshifted sequence: act (T) ggc (G) cta (L) cta (L) cag (Q) gga (G) cgc (R) tga (TER) wild type sequence in deletion region: acc (T) gct (A) gca (A) gct (A) gcg (A) gca (A) ctg (L) wt frameshift deln region length = 7 matching aa in delstart region of wt and deletion mutant: acc (T) act (T) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 7 54 T 61 * 8 A T 1 haematopoietic_and_lymphoid_tissue GATA1 c.162_178del17 p.T54fs*8 haematopoietic_and_lymphoid_tissue GATA1 1 c.166_167delGC p.A56fs*11 length of cdnaseq = 1242 length of protseq = 413 166 167 GC 2 56 1 56 2 gc Total no. of codons in cdna seq = 414 gca gca prev t start t-g end c-a --- --a frameshift deletion length of cdnaseq after deletion = 1240 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 414 last codon in array is a gcc (A) acc (T) gct (A) gca (A) gca (A) gct (A) gcg (A) gca (A) ctg (L) gcc (A) acc (T) gct (A) agc (S) tgc (C) ggc (G) act (T) original frameshift length = 11 frameshift length = 11 frameshifted sequence: agc (S) tgc (C) ggc (G) act (T) ggc (G) cta (L) cta (L) cag (Q) gga (G) cgc (R) tga (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 11 56 A 66 * 11 haematopoietic_and_lymphoid_tissue GATA1 1 c.183_193del11 p.Y62fs*2 length of cdnaseq = 1242 length of protseq = 413 183 193 11 11 61 3 65 1 ctactacaggg Total no. of codons in cdna seq = 414 gcc gac start c-c end g-a gc- -ac frameshift deletion length of cdnaseq after deletion = 1231 ter codon is tga at posn 63 Protein length after deletion = 62 Total no. of codons in del cdnaseq = 411 last codon in array is a gcg (A) gca (A) ctg (L) gcc (A) gac (D) gct (A) gag (E) gcc (A) tac (Y) gcg (A) gca (A) ctg (L) gca (A) cgc (R) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gca (A) cgc (R) tga (TER) wild type sequence in deletion region: gcc (A) tac (Y) tac (Y) agg (R) gac (D) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 2 62 Y 63 * 2 haematopoietic_and_lymphoid_tissue GATA1 1 c.209_210delGA p.R70fs*91 length of cdnaseq = 1242 length of protseq = 413 209 210 GA 2 70 2 70 3 ga Total no. of codons in cdna seq = 414 aga aga start a-g post c end a-c a-- --- frameshift deletion length of cdnaseq after deletion = 1240 ter codon is tag at posn 160 Protein length after deletion = 159 Total no. of codons in del cdnaseq = 414 last codon in array is a gag (E) gcc (A) tac (Y) aga (R) aga (R) cac (H) tcc (S) cca (P) gtc (V) gag (E) gcc (A) tac (Y) aca (T) ctc (L) ccc (P) agt (S) original frameshift length = 91 frameshift length = 91 frameshifted sequence: aca (T) ctc (L) ccc (P) agt (S) ctt (L) tca (S) ggt (G) gta (V) ccc (P) att (I) gct (A) caa (Q) ctg (L) tat (Y) gga (G) ggg (G) gat (D) ccc (P) agg (R) ggg (G) ctc (L) acc (T) ata (I) tgc (C) cgg (R) ctg (L) ggc (G) cta (L) cgg (R) caa (Q) gac (D) ggg (G) gct (A) cta (L) ccc (P) tgc (C) ctc (L) aac (N) tgt (C) gtg (V) tcc (S) cac (H) ccg (P) cga (R) gga (G) ctc (L) tcc (S) tcc (S) cca (P) ggc (G) cgt (R) gga (G) aga (R) tct (S) gga (G) tgg (W) aaa (K) agg (R) cag (Q) cac (H) cag (Q) ctt (L) cct (P) gga (G) gac (D) ttt (F) gaa (E) gac (D) aga (R) gcg (A) gct (A) gag (E) ccc (P) aga (R) cct (P) cct (P) gac (D) cct (P) ggg (G) acc (T) tgc (C) act (T) gcc (A) ttc (F) atc (I) act (T) ccc (P) tgt (C) ccc (P) caa (Q) tag (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 91 70 R 160 * 91 haematopoietic_and_lymphoid_tissue GATA1 1 c.220_229del10 p.V74fs*60 length of cdnaseq = 1242 length of protseq = 413 220 229 10 10 74 1 77 1 gtctttcagg Total no. of codons in cdna seq = 414 gtc gtg prev a start a-g end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 1232 ter codon is tga at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 411 last codon in array is ga cac (H) tcc (S) cca (P) gtc (V) gtg (V) tac (Y) cca (P) ttg (L) ctc (L) cac (H) tcc (S) cca (P) tgt (C) acc (T) cat (H) tgc (C) original frameshift length = 60 frameshift length = 60 frameshifted sequence: tgt (C) acc (T) cat (H) tgc (C) tca (S) act (T) gta (V) tgg (W) agg (R) gga (G) tcc (S) cag (Q) ggg (G) gct (A) cac (H) cat (H) atg (M) ccg (P) gct (A) ggg (G) cct (P) acg (T) gca (A) aga (R) cgg (R) ggc (G) tct (S) acc (T) ctg (L) cct (P) caa (Q) ctg (L) tgt (C) gtc (V) cca (P) ccc (P) gcg (A) agg (R) act (T) ctc (L) ctc (L) ccc (P) agg (R) ccg (P) tgg (W) aag (K) atc (I) tgg (W) atg (M) gaa (E) aag (K) gca (A) gca (A) cca (P) gct (A) tcc (S) tgg (W) aga (R) ctt (L) tga (TER) wild type sequence in deletion region: gtc (V) ttt (F) cag (Q) gtg (V) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 60 74 V 133 * 60 haematopoietic_and_lymphoid_tissue GATA1 1 c.29_30delGG p.G10fs*29 length of cdnaseq = 1242 length of protseq = 413 29 30 GG 2 10 2 10 3 gg Total no. of codons in cdna seq = 414 ggg ggg start g-g post a end g-a g-- --- frameshift deletion length of cdnaseq after deletion = 1240 ter codon is tga at posn 38 Protein length after deletion = 37 Total no. of codons in del cdnaseq = 414 last codon in array is a ggg (G) tcc (S) ctg (L) ggg (G) ggg (G) acc (T) tca (S) gag (E) ccc (P) ggg (G) tcc (S) ctg (L) gac (D) ctc (L) aga (R) gcc (A) original frameshift length = 29 frameshift length = 29 frameshifted sequence: gac (D) ctc (L) aga (R) gcc (A) cct (P) ccc (P) cca (P) gtt (V) tgt (C) gga (G) tcc (S) tgc (C) tct (S) ggt (G) gtc (V) ctc (L) cac (H) acc (T) aga (R) atc (I) agg (R) ggt (G) ttt (F) ctt (L) ccc (P) ctc (L) tgg (W) gcc (A) tga (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggg (G) final frameshift length = 29 10 G 38 * 29 haematopoietic_and_lymphoid_tissue GATA1 1 c.36_37delAG p.E13fs*26 length of cdnaseq = 1242 length of protseq = 413 36 37 AG 2 12 3 13 1 ag Total no. of codons in cdna seq = 414 tca gag start c-a end g-a tc- -ag frameshift deletion length of cdnaseq after deletion = 1240 ter codon is tga at posn 38 Protein length after deletion = 37 Total no. of codons in del cdnaseq = 414 last codon in array is a ctg (L) ggg (G) acc (T) tca (S) gag (E) ccc (P) ctc (L) ccc (P) cag (Q) ctg (L) ggg (G) acc (T) tca (S) gcc (A) cct (P) ccc (P) original frameshift length = 27 frameshift length = 27 frameshifted sequence: tca (S) gcc (A) cct (P) ccc (P) cca (P) gtt (V) tgt (C) gga (G) tcc (S) tgc (C) tct (S) ggt (G) gtc (V) ctc (L) cac (H) acc (T) aga (R) atc (I) agg (R) ggt (G) ttt (F) ctt (L) ccc (P) ctc (L) tgg (W) gcc (A) tga (TER) wild type sequence in deletion region: tca (S) gag (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tca (S) tca (S) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 26 13 E 38 * 26 haematopoietic_and_lymphoid_tissue GATA1 1 c.38_39delAG p.E13fs*26 length of cdnaseq = 1242 length of protseq = 413 38 39 AG 2 13 2 13 3 ag Total no. of codons in cdna seq = 414 gag gag start g-a post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 1240 ter codon is tga at posn 38 Protein length after deletion = 37 Total no. of codons in del cdnaseq = 414 last codon in array is a ggg (G) acc (T) tca (S) gag (E) gag (E) ccc (P) ctc (L) ccc (P) cag (Q) ggg (G) acc (T) tca (S) gcc (A) cct (P) ccc (P) cca (P) original frameshift length = 26 frameshift length = 26 frameshifted sequence: gcc (A) cct (P) ccc (P) cca (P) gtt (V) tgt (C) gga (G) tcc (S) tgc (C) tct (S) ggt (G) gtc (V) ctc (L) cac (H) acc (T) aga (R) atc (I) agg (R) ggt (G) ttt (F) ctt (L) ccc (P) ctc (L) tgg (W) gcc (A) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 26 13 E 38 * 26 haematopoietic_and_lymphoid_tissue GATA1 1 c.56_57delTG p.V19fs*20 length of cdnaseq = 1242 length of protseq = 413 56 57 TG 2 19 2 19 3 tg Total no. of codons in cdna seq = 414 gtg gtg start g-t post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 1240 ter codon is tga at posn 38 Protein length after deletion = 37 Total no. of codons in del cdnaseq = 414 last codon in array is a ccc (P) cag (Q) ttt (F) gtg (V) gtg (V) gat (D) cct (P) gct (A) ctg (L) ccc (P) cag (Q) ttt (F) gga (G) tcc (S) tgc (C) tct (S) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gga (G) tcc (S) tgc (C) tct (S) ggt (G) gtc (V) ctc (L) cac (H) acc (T) aga (R) atc (I) agg (R) ggt (G) ttt (F) ctt (L) ccc (P) ctc (L) tgg (W) gcc (A) tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 20 19 V 38 * 20 haematopoietic_and_lymphoid_tissue GATA1 1 c.98_132del35 p.F33fs*23 length of cdnaseq = 1242 length of protseq = 413 98 132 35 35 33 2 44 3 tcttcccctctgggcctgagggcttggatgcagca Total no. of codons in cdna seq = 414 ttc gca start t-t post g end a-g t-- --- frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 55 Protein length after deletion = 54 Total no. of codons in del cdnaseq = 403 last codon in array is a tca (S) ggg (G) gtt (V) ttc (F) gca (A) gct (A) tcc (S) tcc (S) act (T) tca (S) ggg (G) gtt (V) tgc (C) ttc (F) ctc (L) cac (H) original frameshift length = 23 frameshift length = 23 frameshifted sequence: tgc (C) ttc (F) ctc (L) cac (H) tgc (C) ccc (P) gag (E) cac (H) agc (S) cac (H) cgc (R) tgc (C) agc (S) tgc (C) ggc (G) act (T) ggc (G) cta (L) cta (L) cag (Q) gga (G) cgc (R) tga (TER) wild type sequence in deletion region: ttc (F) ttc (F) ccc (P) tct (S) ggg (G) cct (P) gag (E) ggc (G) ttg (L) gat (D) gca (A) gca (A) wt frameshift deln region length = 12 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 23 33 F 55 * 23 haematopoietic_and_lymphoid_tissue GATA1 2 c.101_108delTCCCCTCT p.F34fs*3 length of cdnaseq = 1242 length of protseq = 413 101 108 TCCCCTCT 8 34 2 36 3 tcccctct Total no. of codons in cdna seq = 414 ttc tct start t-t post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 1234 ter codon is tga at posn 36 Protein length after deletion = 35 Total no. of codons in del cdnaseq = 412 last codon in array is a ggg (G) gtt (V) ttc (F) ttc (F) tct (S) ggg (G) cct (P) gag (E) ggc (G) ggg (G) gtt (V) ttc (F) tgg (W) gcc (A) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tgg (W) gcc (A) tga (TER) wild type sequence in deletion region: ttc (F) ccc (P) tct (S) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 3 34 F 36 * 3 haematopoietic_and_lymphoid_tissue GATA1 2 c.114_159del46 p.E39fs*83 length of cdnaseq = 1242 length of protseq = 413 114 159 46 46 38 3 53 3 tgagggcttggatgcagcagcttcctccactgccccgagcacagcc Total no. of codons in cdna seq = 414 cct gcc start c-t post a end c-a cc- --- frameshift deletion length of cdnaseq after deletion = 1196 ter codon is tga at posn 121 Protein length after deletion = 120 Total no. of codons in del cdnaseq = 399 last codon in array is ga ccc (P) tct (S) ggg (G) cct (P) gcc (A) acc (T) gct (A) gca (A) gct (A) ccc (P) tct (S) ggg (G) cca (P) ccg (P) ctg (L) cag (Q) original frameshift length = 84 frameshift length = 84 frameshifted sequence: cca (P) ccg (P) ctg (L) cag (Q) ctg (L) cgg (R) cac (H) tgg (W) cct (P) act (T) aca (T) ggg (G) acg (T) ctg (L) agg (R) cct (P) aca (T) gac (D) act (T) ccc (P) cag (Q) tct (S) ttc (F) agg (R) tgt (C) acc (T) cat (H) tgc (C) tca (S) act (T) gta (V) tgg (W) agg (R) gga (G) tcc (S) cag (Q) ggg (G) gct (A) cac (H) cat (H) atg (M) ccg (P) gct (A) ggg (G) cct (P) acg (T) gca (A) aga (R) cgg (R) ggc (G) tct (S) acc (T) ctg (L) cct (P) caa (Q) ctg (L) tgt (C) gtc (V) cca (P) ccc (P) gcg (A) agg (R) act (T) ctc (L) ctc (L) ccc (P) agg (R) ccg (P) tgg (W) aag (K) atc (I) tgg (W) atg (M) gaa (E) aag (K) gca (A) gca (A) cca (P) gct (A) tcc (S) tgg (W) aga (R) ctt (L) tga (TER) wild type sequence in deletion region: cct (P) gag (E) ggc (G) ttg (L) gat (D) gca (A) gca (A) gct (A) tcc (S) tcc (S) act (T) gcc (A) ccg (P) agc (S) aca (T) gcc (A) wt frameshift deln region length = 16 matching aa in delstart region of wt and deletion mutant: cct (P) cca (P) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 83 39 E 121 * 83 haematopoietic_and_lymphoid_tissue GATA1 2 c.114_160del47 p.P38fs*14 length of cdnaseq = 1242 length of protseq = 413 114 160 47 47 38 3 54 1 tgagggcttggatgcagcagcttcctccactgccccgagcacagcca Total no. of codons in cdna seq = 414 cct acc start c-t end a-c cc- -cc frameshift deletion length of cdnaseq after deletion = 1195 ter codon is tga at posn 51 Protein length after deletion = 50 Total no. of codons in del cdnaseq = 399 last codon in array is a ccc (P) tct (S) ggg (G) cct (P) acc (T) gct (A) gca (A) gct (A) gcg (A) ccc (P) tct (S) ggg (G) ccc (P) cgc (R) tgc (C) agc (S) original frameshift length = 14 frameshift length = 14 frameshifted sequence: ccc (P) cgc (R) tgc (C) agc (S) tgc (C) ggc (G) act (T) ggc (G) cta (L) cta (L) cag (Q) gga (G) cgc (R) tga (TER) wild type sequence in deletion region: cct (P) gag (E) ggc (G) ttg (L) gat (D) gca (A) gca (A) gct (A) tcc (S) tcc (S) act (T) gcc (A) ccg (P) agc (S) aca (T) gcc (A) acc (T) wt frameshift deln region length = 17 matching aa in delstart region of wt and deletion mutant: cct (P) ccc (P) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 13 38 P 51 * 14 E P 2 haematopoietic_and_lymphoid_tissue GATA1 c.114_160del47 p.P38fs*14 haematopoietic_and_lymphoid_tissue GATA1 2 c.143_168del26 p.T48fs*11 length of cdnaseq = 1242 length of protseq = 413 143 168 26 26 48 2 56 3 ctgccccgagcacagccaccgctgca Total no. of codons in cdna seq = 414 act gca start a-c post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 1216 ter codon is tga at posn 58 Protein length after deletion = 57 Total no. of codons in del cdnaseq = 406 last codon in array is a gct (A) tcc (S) tcc (S) act (T) gca (A) gct (A) gcg (A) gca (A) ctg (L) gct (A) tcc (S) tcc (S) agc (S) tgc (C) ggc (G) act (T) original frameshift length = 11 frameshift length = 11 frameshifted sequence: agc (S) tgc (C) ggc (G) act (T) ggc (G) cta (L) cta (L) cag (Q) gga (G) cgc (R) tga (TER) wild type sequence in deletion region: act (T) gcc (A) ccg (P) agc (S) aca (T) gcc (A) acc (T) gct (A) gca (A) wt frameshift deln region length = 9 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 11 48 T 58 * 11 haematopoietic_and_lymphoid_tissue GATA1 2 c.150delG p.P50fs*87 length of cdnaseq = 1242 length of protseq = 413 150 150 G 1 50 3 50 3 g Total no. of codons in cdna seq = 414 ccg ccg start c-g post a end g-a cc- --- frameshift deletion length of cdnaseq after deletion = 1241 ter codon is tga at posn 136 Protein length after deletion = 135 Total no. of codons in del cdnaseq = 414 last codon in array is ga tcc (S) act (T) gcc (A) ccg (P) ccg (P) agc (S) aca (T) gcc (A) acc (T) tcc (S) act (T) gcc (A) cca (P) gca (A) cag (Q) cca (P) original frameshift length = 87 frameshift length = 87 frameshifted sequence: cca (P) gca (A) cag (Q) cca (P) ccg (P) ctg (L) cag (Q) ctg (L) cgg (R) cac (H) tgg (W) cct (P) act (T) aca (T) ggg (G) acg (T) ctg (L) agg (R) cct (P) aca (T) gac (D) act (T) ccc (P) cag (Q) tct (S) ttc (F) agg (R) tgt (C) acc (T) cat (H) tgc (C) tca (S) act (T) gta (V) tgg (W) agg (R) gga (G) tcc (S) cag (Q) ggg (G) gct (A) cac (H) cat (H) atg (M) ccg (P) gct (A) ggg (G) cct (P) acg (T) gca (A) aga (R) cgg (R) ggc (G) tct (S) acc (T) ctg (L) cct (P) caa (Q) ctg (L) tgt (C) gtc (V) cca (P) ccc (P) gcg (A) agg (R) act (T) ctc (L) ctc (L) ccc (P) agg (R) ccg (P) tgg (W) aag (K) atc (I) tgg (W) atg (M) gaa (E) aag (K) gca (A) gca (A) cca (P) gct (A) tcc (S) tgg (W) aga (R) ctt (L) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccg (P) cca (P) first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 86 50 P 136 * 87 S P 2 haematopoietic_and_lymphoid_tissue GATA1 c.150delG p.P50fs*87 haematopoietic_and_lymphoid_tissue GATA1 2 c.158_180del23 p.A53fs*7 length of cdnaseq = 1242 length of protseq = 413 158 180 23 23 53 2 60 3 ccaccgctgcagctgcggcactg Total no. of codons in cdna seq = 414 gcc ctg start g-c post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 1219 ter codon is tga at posn 59 Protein length after deletion = 58 Total no. of codons in del cdnaseq = 407 last codon in array is a ccg (P) agc (S) aca (T) gcc (A) ctg (L) gcc (A) tac (Y) tac (Y) agg (R) ccg (P) agc (S) aca (T) ggc (G) cta (L) cta (L) cag (Q) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ggc (G) cta (L) cta (L) cag (Q) gga (G) cgc (R) tga (TER) wild type sequence in deletion region: gcc (A) acc (T) gct (A) gca (A) gct (A) gcg (A) gca (A) ctg (L) wt frameshift deln region length = 8 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 7 53 A 59 * 7 haematopoietic_and_lymphoid_tissue GATA1 2 c.205_217del13 p.Y69fs*64 length of cdnaseq = 1242 length of protseq = 413 205 217 13 13 69 1 73 1 tacagacactccc Total no. of codons in cdna seq = 414 tac cca prev c start c-t end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 1229 ter codon is tga at posn 132 Protein length after deletion = 131 Total no. of codons in del cdnaseq = 410 last codon in array is ga gct (A) gag (E) gcc (A) tac (Y) cca (P) gtc (V) ttt (F) cag (Q) gtg (V) gct (A) gag (E) gcc (A) cag (Q) tct (S) ttc (F) agg (R) original frameshift length = 64 frameshift length = 64 frameshifted sequence: cag (Q) tct (S) ttc (F) agg (R) tgt (C) acc (T) cat (H) tgc (C) tca (S) act (T) gta (V) tgg (W) agg (R) gga (G) tcc (S) cag (Q) ggg (G) gct (A) cac (H) cat (H) atg (M) ccg (P) gct (A) ggg (G) cct (P) acg (T) gca (A) aga (R) cgg (R) ggc (G) tct (S) acc (T) ctg (L) cct (P) caa (Q) ctg (L) tgt (C) gtc (V) cca (P) ccc (P) gcg (A) agg (R) act (T) ctc (L) ctc (L) ccc (P) agg (R) ccg (P) tgg (W) aag (K) atc (I) tgg (W) atg (M) gaa (E) aag (K) gca (A) gca (A) cca (P) gct (A) tcc (S) tgg (W) aga (R) ctt (L) tga (TER) wild type sequence in deletion region: tac (Y) aga (R) cac (H) tcc (S) cca (P) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 64 69 Y 132 * 64 haematopoietic_and_lymphoid_tissue GATA1 2 c.217_218delCC p.P73fs*88 length of cdnaseq = 1242 length of protseq = 413 217 218 CC 2 73 1 73 2 cc Total no. of codons in cdna seq = 414 cca cca prev c start c-c end c-a --- --a frameshift deletion length of cdnaseq after deletion = 1240 ter codon is tag at posn 160 Protein length after deletion = 159 Total no. of codons in del cdnaseq = 414 last codon in array is a aga (R) cac (H) tcc (S) cca (P) cca (P) gtc (V) ttt (F) cag (Q) gtg (V) aga (R) cac (H) tcc (S) agt (S) ctt (L) tca (S) ggt (G) original frameshift length = 88 frameshift length = 88 frameshifted sequence: agt (S) ctt (L) tca (S) ggt (G) gta (V) ccc (P) att (I) gct (A) caa (Q) ctg (L) tat (Y) gga (G) ggg (G) gat (D) ccc (P) agg (R) ggg (G) ctc (L) acc (T) ata (I) tgc (C) cgg (R) ctg (L) ggc (G) cta (L) cgg (R) caa (Q) gac (D) ggg (G) gct (A) cta (L) ccc (P) tgc (C) ctc (L) aac (N) tgt (C) gtg (V) tcc (S) cac (H) ccg (P) cga (R) gga (G) ctc (L) tcc (S) tcc (S) cca (P) ggc (G) cgt (R) gga (G) aga (R) tct (S) gga (G) tgg (W) aaa (K) agg (R) cag (Q) cac (H) cag (Q) ctt (L) cct (P) gga (G) gac (D) ttt (F) gaa (E) gac (D) aga (R) gcg (A) gct (A) gag (E) ccc (P) aga (R) cct (P) cct (P) gac (D) cct (P) ggg (G) acc (T) tgc (C) act (T) gcc (A) ttc (F) atc (I) act (T) ccc (P) tgt (C) ccc (P) caa (Q) tag (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 88 73 P 160 * 88 haematopoietic_and_lymphoid_tissue GATA1 2 c.43_44delCT p.L15fs*24 length of cdnaseq = 1242 length of protseq = 413 43 44 CT 2 15 1 15 2 ct Total no. of codons in cdna seq = 414 ctc ctc prev c start c-c end t-c --- --c frameshift deletion length of cdnaseq after deletion = 1240 ter codon is tga at posn 38 Protein length after deletion = 37 Total no. of codons in del cdnaseq = 414 last codon in array is a tca (S) gag (E) ccc (P) ctc (L) ctc (L) ccc (P) cag (Q) ttt (F) gtg (V) tca (S) gag (E) ccc (P) ccc (P) cca (P) gtt (V) tgt (C) original frameshift length = 24 frameshift length = 24 frameshifted sequence: ccc (P) cca (P) gtt (V) tgt (C) gga (G) tcc (S) tgc (C) tct (S) ggt (G) gtc (V) ctc (L) cac (H) acc (T) aga (R) atc (I) agg (R) ggt (G) ttt (F) ctt (L) ccc (P) ctc (L) tgg (W) gcc (A) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 24 15 L 38 * 24 haematopoietic_and_lymphoid_tissue GATA1 2 c.48_49delCC p.P16fs*23 length of cdnaseq = 1242 length of protseq = 413 48 49 CC 2 16 3 17 1 cc Total no. of codons in cdna seq = 414 ccc cag start c-c end c-a cc- -ag frameshift deletion length of cdnaseq after deletion = 1240 ter codon is tga at posn 38 Protein length after deletion = 37 Total no. of codons in del cdnaseq = 414 last codon in array is a gag (E) ccc (P) ctc (L) ccc (P) cag (Q) ttt (F) gtg (V) gat (D) cct (P) gag (E) ccc (P) ctc (L) cca (P) gtt (V) tgt (C) gga (G) original frameshift length = 23 frameshift length = 23 frameshifted sequence: cca (P) gtt (V) tgt (C) gga (G) tcc (S) tgc (C) tct (S) ggt (G) gtc (V) ctc (L) cac (H) acc (T) aga (R) atc (I) agg (R) ggt (G) ttt (F) ctt (L) ccc (P) ctc (L) tgg (W) gcc (A) tga (TER) wild type sequence in deletion region: ccc (P) cag (Q) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 22 16 P 38 * 23 Q P 2 haematopoietic_and_lymphoid_tissue GATA1 c.48_49delCC p.P16fs*23 haematopoietic_and_lymphoid_tissue GATA1 2 c.50_78del29 p.Q17fs*13 length of cdnaseq = 1242 length of protseq = 413 50 78 29 29 17 2 26 3 agtttgtggatcctgctctggtgtcctcc Total no. of codons in cdna seq = 414 cag tcc start c-a post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 1213 ter codon is tga at posn 29 Protein length after deletion = 28 Total no. of codons in del cdnaseq = 405 last codon in array is a ccc (P) ctc (L) ccc (P) cag (Q) tcc (S) aca (T) cca (P) gaa (E) tca (S) ccc (P) ctc (L) ccc (P) cac (H) acc (T) aga (R) atc (I) original frameshift length = 13 frameshift length = 13 frameshifted sequence: cac (H) acc (T) aga (R) atc (I) agg (R) ggt (G) ttt (F) ctt (L) ccc (P) ctc (L) tgg (W) gcc (A) tga (TER) wild type sequence in deletion region: cag (Q) ttt (F) gtg (V) gat (D) cct (P) gct (A) ctg (L) gtg (V) tcc (S) tcc (S) wt frameshift deln region length = 10 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 13 17 Q 29 * 13 haematopoietic_and_lymphoid_tissue GATA1 5 c.1_220del220 p.M1fs length of cdnaseq = 1242 length of protseq = 413 1 220 220 220 1 1 74 1 atggagttccctggcctggggtccctggggacctcagagcccctcccccagtttgtggatcctgctctggtgtcctccacaccagaatcaggggttttcttcccctctgggcctgagggcttggatgcagcagcttcctccactgccccgagcacagccaccgctgcagctgcggcactggcctactacagggacgctgaggcctacagacactccccag Total no. of codons in cdna seq = 414 atg gtc deletion begins at cdna pos 1 end g-t --- -tc frameshift deletion length of cdnaseq after deletion = 1022 ter codon is tga at posn 63 Protein length after deletion = 62 Total no. of codons in del cdnaseq = 341 last codon in array is ga --- ( ) --- ( ) --- ( ) atg (M) gtc (V) ttt (F) cag (Q) gtg (V) tac (Y) --- ( ) --- ( ) --- ( ) tct (S) ttc (F) agg (R) tgt (C) original frameshift length = 63 frameshift length = 63 frameshifted sequence: tct (S) ttc (F) agg (R) tgt (C) acc (T) cat (H) tgc (C) tca (S) act (T) gta (V) tgg (W) agg (R) gga (G) tcc (S) cag (Q) ggg (G) gct (A) cac (H) cat (H) atg (M) ccg (P) gct (A) ggg (G) cct (P) acg (T) gca (A) aga (R) cgg (R) ggc (G) tct (S) acc (T) ctg (L) cct (P) caa (Q) ctg (L) tgt (C) gtc (V) cca (P) ccc (P) gcg (A) agg (R) act (T) ctc (L) ctc (L) ccc (P) agg (R) ccg (P) tgg (W) aag (K) atc (I) tgg (W) atg (M) gaa (E) aag (K) gca (A) gca (A) cca (P) gct (A) tcc (S) tgg (W) aga (R) ctt (L) tga (TER) wild type sequence in deletion region: atg (M) gag (E) ttc (F) cct (P) ggc (G) ctg (L) ggg (G) tcc (S) ctg (L) ggg (G) acc (T) tca (S) gag (E) ccc (P) ctc (L) ccc (P) cag (Q) ttt (F) gtg (V) gat (D) cct (P) gct (A) ctg (L) gtg (V) tcc (S) tcc (S) aca (T) cca (P) gaa (E) tca (S) ggg (G) gtt (V) ttc (F) ttc (F) ccc (P) tct (S) ggg (G) cct (P) gag (E) ggc (G) ttg (L) gat (D) gca (A) gca (A) gct (A) tcc (S) tcc (S) act (T) gcc (A) ccg (P) agc (S) aca (T) gcc (A) acc (T) gct (A) gca (A) gct (A) gcg (A) gca (A) ctg (L) gcc (A) tac (Y) tac (Y) agg (R) gac (D) gct (A) gag (E) gcc (A) tac (Y) aga (R) cac (H) tcc (S) cca (P) gtc (V) wt frameshift deln region length = 74 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 63 1 M - * - haematopoietic_and_lymphoid_tissue GATA1 3 c.124_220del97 p.D42_D74> length of cdnaseq = 1242 length of protseq = 413 124 220 97 97 42 1 74 1 gatgcagcagcttcctccactgccccgagcacagccaccgctgcagctgcggcactggcctactacagggacgctgaggcctacagacactccccag Total no. of codons in cdna seq = 414 gat gtc prev g start g-g end g-t --- -tc frameshift deletion length of cdnaseq after deletion = 1145 ter codon is tga at posn 104 Protein length after deletion = 103 Total no. of codons in del cdnaseq = 382 last codon in array is ga gag (E) ggc (G) ttg (L) gat (D) gtc (V) ttt (F) cag (Q) gtg (V) tac (Y) gag (E) ggc (G) ttg (L) tct (S) ttc (F) agg (R) tgt (C) original frameshift length = 63 frameshift length = 63 frameshifted sequence: tct (S) ttc (F) agg (R) tgt (C) acc (T) cat (H) tgc (C) tca (S) act (T) gta (V) tgg (W) agg (R) gga (G) tcc (S) cag (Q) ggg (G) gct (A) cac (H) cat (H) atg (M) ccg (P) gct (A) ggg (G) cct (P) acg (T) gca (A) aga (R) cgg (R) ggc (G) tct (S) acc (T) ctg (L) cct (P) caa (Q) ctg (L) tgt (C) gtc (V) cca (P) ccc (P) gcg (A) agg (R) act (T) ctc (L) ctc (L) ccc (P) agg (R) ccg (P) tgg (W) aag (K) atc (I) tgg (W) atg (M) gaa (E) aag (K) gca (A) gca (A) cca (P) gct (A) tcc (S) tgg (W) aga (R) ctt (L) tga (TER) wild type sequence in deletion region: gat (D) gca (A) gca (A) gct (A) tcc (S) tcc (S) act (T) gcc (A) ccg (P) agc (S) aca (T) gcc (A) acc (T) gct (A) gca (A) gct (A) gcg (A) gca (A) ctg (L) gcc (A) tac (Y) tac (Y) agg (R) gac (D) gct (A) gag (E) gcc (A) tac (Y) aga (R) cac (H) tcc (S) cca (P) gtc (V) wt frameshift deln region length = 33 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 63 42 D 74 D > kidney GNAQ 1 c.796_808delAACTCCTCGGTTA p.N266fs*4 length of cdnaseq = 1080 length of protseq = 359 796 808 AACTCCTCGGTTA 13 266 1 270 1 aactcctcggtta Total no. of codons in cdna seq = 360 aac att prev g start g-a end a-t --- -tt frameshift deletion length of cdnaseq after deletion = 1067 ter codon is taa at posn 269 Protein length after deletion = 268 Total no. of codons in del cdnaseq = 356 last codon in array is aa tgg (W) ttc (F) cag (Q) aac (N) att (I) ctg (L) ttc (F) tta (L) aac (N) tgg (W) ttc (F) cag (Q) ttc (F) tgt (C) tct (S) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: ttc (F) tgt (C) tct (S) taa (TER) wild type sequence in deletion region: aac (N) tcc (S) tcg (S) gtt (V) att (I) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 4 266 N 269 * 4 large_intestine HNF1A 14 c.872_872delC p.P291fs*51 length of cdnaseq = 1896 length of protseq = 631 872 872 C 1 291 2 291 2 c Total no. of codons in cdna seq = 632 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 1895 ter codon is tag at posn 341 Protein length after deletion = 340 Total no. of codons in del cdnaseq = 632 last codon in array is aa ggg (G) ccc (P) ccc (P) cca (P) cca (P) ggg (G) cca (P) ggc (G) ccg (P) ggg (G) ccc (P) ccc (P) cag (Q) ggc (G) cag (Q) gcc (A) original frameshift length = 51 frameshift length = 51 frameshifted sequence: cag (Q) ggc (G) cag (Q) gcc (A) cgg (R) gac (D) ctg (L) cgc (R) tgc (C) ccg (P) ctc (L) aca (T) gct (A) ccc (P) ctg (L) gcc (A) tgc (C) ctc (L) cac (H) ctg (L) ccc (P) tct (S) ccc (P) cca (P) gta (V) agg (R) tcc (S) acg (T) gtg (V) tgc (C) gct (A) atg (M) gac (D) agc (S) ctg (L) cga (R) cca (P) gtg (V) aga (R) ctg (L) cag (Q) aag (K) tac (Y) cct (P) caa (Q) gca (A) gcg (A) gcg (A) gtc (V) cct (P) tag (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 51 291 P 341 * 51 large_intestine HNF1A 14 c.872_872delC p.P291fs*51 length of cdnaseq = 1896 length of protseq = 631 872 872 C 1 291 2 291 2 c Total no. of codons in cdna seq = 632 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 1895 ter codon is tag at posn 341 Protein length after deletion = 340 Total no. of codons in del cdnaseq = 632 last codon in array is aa ggg (G) ccc (P) ccc (P) cca (P) cca (P) ggg (G) cca (P) ggc (G) ccg (P) ggg (G) ccc (P) ccc (P) cag (Q) ggc (G) cag (Q) gcc (A) original frameshift length = 51 frameshift length = 51 frameshifted sequence: cag (Q) ggc (G) cag (Q) gcc (A) cgg (R) gac (D) ctg (L) cgc (R) tgc (C) ccg (P) ctc (L) aca (T) gct (A) ccc (P) ctg (L) gcc (A) tgc (C) ctc (L) cac (H) ctg (L) ccc (P) tct (S) ccc (P) cca (P) gta (V) agg (R) tcc (S) acg (T) gtg (V) tgc (C) gct (A) atg (M) gac (D) agc (S) ctg (L) cga (R) cca (P) gtg (V) aga (R) ctg (L) cag (Q) aag (K) tac (Y) cct (P) caa (Q) gca (A) gcg (A) gcg (A) gtc (V) cct (P) tag (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 51 291 P 341 * 51 endometrium HNF1A 1 c.1042_1042delC p.L348fs*16 length of cdnaseq = 1896 length of protseq = 631 1042 1042 C 1 348 1 348 1 c Total no. of codons in cdna seq = 632 ctc ctc prev c start c-c end c-t --- -tc frameshift deletion length of cdnaseq after deletion = 1895 ter codon is tga at posn 363 Protein length after deletion = 362 Total no. of codons in del cdnaseq = 632 last codon in array is aa tct (S) aca (T) ccc (P) ctc (L) ctc (L) cac (H) caa (Q) gtg (V) tcc (S) tct (S) aca (T) ccc (P) tcc (S) acc (T) aag (K) tgt (C) original frameshift length = 16 frameshift length = 16 frameshifted sequence: tcc (S) acc (T) aag (K) tgt (C) ccc (P) cca (P) cgg (R) gcc (A) tgg (W) agc (S) cca (P) gcc (A) aca (T) gcc (A) tgc (C) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 16 348 L 363 * 16 endometrium HNF1A 1 c.872_872delC p.P291fs*51 length of cdnaseq = 1896 length of protseq = 631 872 872 C 1 291 2 291 2 c Total no. of codons in cdna seq = 632 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 1895 ter codon is tag at posn 341 Protein length after deletion = 340 Total no. of codons in del cdnaseq = 632 last codon in array is aa ggg (G) ccc (P) ccc (P) cca (P) cca (P) ggg (G) cca (P) ggc (G) ccg (P) ggg (G) ccc (P) ccc (P) cag (Q) ggc (G) cag (Q) gcc (A) original frameshift length = 51 frameshift length = 51 frameshifted sequence: cag (Q) ggc (G) cag (Q) gcc (A) cgg (R) gac (D) ctg (L) cgc (R) tgc (C) ccg (P) ctc (L) aca (T) gct (A) ccc (P) ctg (L) gcc (A) tgc (C) ctc (L) cac (H) ctg (L) ccc (P) tct (S) ccc (P) cca (P) gta (V) agg (R) tcc (S) acg (T) gtg (V) tgc (C) gct (A) atg (M) gac (D) agc (S) ctg (L) cga (R) cca (P) gtg (V) aga (R) ctg (L) cag (Q) aag (K) tac (Y) cct (P) caa (Q) gca (A) gcg (A) gcg (A) gtc (V) cct (P) tag (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 51 291 P 341 * 51 liver HNF1A 1 c.1288_1289delGG p.G430fs*118 length of cdnaseq = 1896 length of protseq = 631 1288 1289 GG 2 430 1 430 2 gg Total no. of codons in cdna seq = 632 ggt ggt prev a start a-g end g-t --- --t frameshift deletion length of cdnaseq after deletion = 1894 ter codon is tga at posn 547 Protein length after deletion = 546 Total no. of codons in del cdnaseq = 632 last codon in array is a acc (T) aac (N) aca (T) ggt (G) ggt (G) gcc (A) tcc (S) acc (T) ctg (L) acc (T) aac (N) aca (T) tgc (C) ctc (L) cac (H) cct (P) original frameshift length = 118 frameshift length = 118 frameshifted sequence: tgc (C) ctc (L) cac (H) cct (P) ggt (G) cat (H) cgg (R) cct (P) ggc (G) ctc (L) cac (H) gca (A) ggc (G) aca (T) gag (E) tgt (C) gcc (A) ggt (G) cat (H) caa (Q) cag (Q) cat (H) ggg (G) cag (Q) cag (Q) cct (P) gac (D) cac (H) cct (P) gca (A) gcc (A) cgt (R) cca (P) gtt (V) ctc (L) cca (P) gcc (A) gct (A) gca (A) ccc (P) ctc (L) cta (L) cca (P) gca (A) gcc (A) gct (A) cat (H) gcc (A) acc (T) tgt (C) gca (A) gag (E) cca (P) tgt (C) gac (D) cca (P) gag (E) ccc (P) ctt (L) cat (H) ggc (G) cac (H) cat (H) ggc (G) tca (S) gct (A) gca (A) gag (E) ccc (P) cca (P) cgc (R) cct (P) cta (L) cag (Q) cca (P) caa (Q) gcc (A) cga (R) ggt (G) ggc (G) cca (P) gta (V) cac (H) cca (P) cac (H) ggg (G) cct (P) gct (A) ccc (P) gca (A) gac (D) tat (Y) gct (A) cat (H) cac (H) cga (R) cac (H) cac (H) caa (Q) cct (P) gag (E) cgc (R) cct (P) ggc (G) cag (Q) cct (P) cac (H) gcc (A) cac (H) caa (Q) gca (A) ggt (G) ctt (L) cac (H) ctc (L) aga (R) cac (H) tga (TER) wild type sequence in deletion region: ggt (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 118 430 G 547 * 118 liver HNF1A 1 c.185_194del10 p.N62fs*90 length of cdnaseq = 1896 length of protseq = 631 185 194 10 10 62 2 65 2 atgggctggg Total no. of codons in cdna seq = 632 aat ggg start a-a end g-g a-- --g frameshift deletion length of cdnaseq after deletion = 1886 ter codon is tga at posn 151 Protein length after deletion = 150 Total no. of codons in del cdnaseq = 629 last codon in array is aa gag (E) ctg (L) ccc (P) aat (N) ggg (G) gag (E) act (T) cgg (R) ggc (G) gag (E) ctg (L) ccc (P) agg (R) aga (R) ctc (L) ggg (G) original frameshift length = 90 frameshift length = 90 frameshifted sequence: agg (R) aga (R) ctc (L) ggg (G) gct (A) ccg (P) agg (R) acg (T) aga (R) cgg (R) acg (T) acg (T) atg (M) ggg (G) aag (K) act (T) tca (S) cgc (R) cac (H) cca (P) tcc (S) tca (S) aag (K) agc (S) tgg (W) aga (R) acc (T) tca (S) gcc (A) ctg (L) agg (R) agg (R) cgg (R) ccc (P) acc (T) aga (R) aag (K) ccg (P) tgg (W) tgg (W) aga (R) ccc (P) ttc (F) tgc (C) agg (R) agg (R) acc (T) cgt (R) ggc (G) gtg (V) tgg (W) cga (R) aga (R) tgg (W) tca (S) agt (S) cct (P) acc (T) tgc (C) agc (S) agc (S) aca (T) aca (T) tcc (S) cac (H) agc (S) ggg (G) agg (R) tgg (W) tcg (S) ata (I) cca (P) ctg (L) gcc (A) tca (S) acc (T) agt (S) ccc (P) acc (T) tgt (C) ccc (P) aac (N) acc (T) tca (S) aca (T) agg (R) gca (A) ctc (L) cca (P) tga (TER) wild type sequence in deletion region: aat (N) ggg (G) ctg (L) ggg (G) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 90 62 N 151 * 90 liver HNF1A 1 c.198_202delGACTC p.T67fs*27 length of cdnaseq = 1896 length of protseq = 631 198 202 GACTC 5 66 3 68 1 gactc Total no. of codons in cdna seq = 632 gag cgg start a-g end c-g ga- -gg frameshift deletion length of cdnaseq after deletion = 1891 ter codon is tga at posn 93 Protein length after deletion = 92 Total no. of codons in del cdnaseq = 631 last codon in array is a ggg (G) ctg (L) ggg (G) gag (E) cgg (R) ggc (G) tcc (S) gag (E) gac (D) ggg (G) ctg (L) ggg (G) gag (E) ggg (G) ctc (L) cga (R) original frameshift length = 28 frameshift length = 28 frameshifted sequence: gag (E) ggg (G) ctc (L) cga (R) gga (G) cga (R) gac (D) gga (G) cga (R) cga (R) tgg (W) gga (G) aga (R) ctt (L) cac (H) gcc (A) acc (T) cat (H) cct (P) caa (Q) aga (R) gct (A) gga (G) gaa (E) cct (P) cag (Q) ccc (P) tga (TER) wild type sequence in deletion region: gag (E) act (T) cgg (R) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 27 67 T 93 * 27 liver HNF1A 1 c.257_258delTC p.L86fs*9 length of cdnaseq = 1896 length of protseq = 631 257 258 TC 2 86 2 86 3 tc Total no. of codons in cdna seq = 632 ctc ctc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 1894 ter codon is tga at posn 94 Protein length after deletion = 93 Total no. of codons in del cdnaseq = 632 last codon in array is a cca (P) ccc (P) atc (I) ctc (L) ctc (L) aaa (K) gag (E) ctg (L) gag (E) cca (P) ccc (P) atc (I) caa (Q) aga (R) gct (A) gga (G) original frameshift length = 9 frameshift length = 9 frameshifted sequence: caa (Q) aga (R) gct (A) gga (G) gaa (E) cct (P) cag (Q) ccc (P) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 9 86 L 94 * 9 liver HNF1A 1 c.27_33delGACGGAG p.Q9fs*11 length of cdnaseq = 1896 length of protseq = 631 27 33 GACGGAG 7 9 3 11 3 gacggag Total no. of codons in cdna seq = 632 cag gag start a-g post c end g-c ca- --- frameshift deletion length of cdnaseq after deletion = 1889 ter codon is tga at posn 19 Protein length after deletion = 18 Total no. of codons in del cdnaseq = 630 last codon in array is aa agc (S) cag (Q) ctg (L) cag (Q) gag (E) ctc (L) ctg (L) gcg (A) gcc (A) agc (S) cag (Q) ctg (L) cac (H) tcc (S) tgg (W) cgg (R) original frameshift length = 11 frameshift length = 11 frameshifted sequence: cac (H) tcc (S) tgg (W) cgg (R) ccc (P) tgc (C) tcg (S) agt (S) cag (Q) ggc (G) tga (TER) wild type sequence in deletion region: cag (Q) acg (T) gag (E) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 11 9 Q 19 * 11 liver HNF1A 1 c.436_436delC p.Q146fs*9 length of cdnaseq = 1896 length of protseq = 631 436 436 C 1 146 1 146 1 c Total no. of codons in cdna seq = 632 caa caa prev c start c-c end c-a --- -aa frameshift deletion length of cdnaseq after deletion = 1895 ter codon is tga at posn 154 Protein length after deletion = 153 Total no. of codons in del cdnaseq = 632 last codon in array is aa cac (H) ctg (L) tcc (S) caa (Q) caa (Q) cac (H) ctc (L) aac (N) aag (K) cac (H) ctg (L) tcc (S) aac (N) acc (T) tca (S) aca (T) original frameshift length = 9 frameshift length = 9 frameshifted sequence: aac (N) acc (T) tca (S) aca (T) agg (R) gca (A) ctc (L) cca (P) tga (TER) wild type sequence in deletion region: caa (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 9 146 Q 154 * 9 liver HNF1A 1 c.476_479delGGGC p.R159fs*26 length of cdnaseq = 1896 length of protseq = 631 476 479 GGGC 4 159 2 160 2 gggc Total no. of codons in cdna seq = 632 cgg gcc start c-g end c-c c-- --c frameshift deletion length of cdnaseq after deletion = 1892 ter codon is tga at posn 184 Protein length after deletion = 183 Total no. of codons in del cdnaseq = 631 last codon in array is aa acg (T) cag (Q) aag (K) cgg (R) gcc (A) gcc (A) ctg (L) tac (Y) acc (T) acg (T) cag (Q) aag (K) ccg (P) ccc (P) tgt (C) aca (T) original frameshift length = 26 frameshift length = 26 frameshifted sequence: ccg (P) ccc (P) tgt (C) aca (T) cct (P) ggt (G) acg (T) tcc (S) gca (A) agc (S) agc (S) gag (E) agg (R) tgg (W) cgc (R) agc (S) agt (S) tca (S) ccc (P) atg (M) cag (Q) ggc (G) agg (R) gag (E) ggc (G) tga (TER) wild type sequence in deletion region: cgg (R) gcc (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 26 159 R 184 * 26 liver HNF1A 1 c.60_60delG p.L21fs*1 length of cdnaseq = 1896 length of protseq = 631 60 60 G 1 20 3 20 3 g Total no. of codons in cdna seq = 632 ggg ggg start g-g post c end g-c gg- --- frameshift deletion length of cdnaseq after deletion = 1895 ter codon is tga at posn 21 Protein length after deletion = 20 Total no. of codons in del cdnaseq = 632 last codon in array is aa ctc (L) gag (E) tca (S) ggg (G) ggg (G) ctg (L) agc (S) aaa (K) gag (E) ctc (L) gag (E) tca (S) ggc (G) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ggc (G) tga (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) ggc (G) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 1 21 L 21 * 1 liver HNF1A 1 c.811_818delCGGCGCAA p.K273fs*41 length of cdnaseq = 1896 length of protseq = 631 811 818 CGGCGCAA 8 271 1 273 2 cggcgcaa Total no. of codons in cdna seq = 632 cgg aaa prev c start c-c end a-a --- --a frameshift deletion length of cdnaseq after deletion = 1888 ter codon is taa at posn 313 Protein length after deletion = 312 Total no. of codons in del cdnaseq = 630 last codon in array is a ttt (F) gcc (A) aac (N) cgg (R) aaa (K) gaa (E) gaa (E) gcc (A) ttc (F) ttt (F) gcc (A) aac (N) aga (R) aga (R) agc (S) ctt (L) original frameshift length = 43 frameshift length = 43 frameshifted sequence: aga (R) aga (R) agc (S) ctt (L) ccg (P) gca (A) caa (Q) gct (A) ggc (G) cat (H) gga (G) cac (H) gta (V) cag (Q) cgg (R) gcc (A) ccc (P) ccc (P) agg (R) gcc (A) agg (R) ccc (P) ggg (G) acc (T) tgc (C) gct (A) gcc (A) cgc (R) tca (S) cag (Q) ctc (L) ccc (P) tgg (W) cct (P) gcc (A) tcc (S) acc (T) tgc (C) cct (P) ctc (L) ccc (P) cag (Q) taa (TER) wild type sequence in deletion region: cgg (R) cgc (R) aaa (K) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: cgg (R) aga (R) matching aa in delstart region of wt and deletion mutant: cgc (R) aga (R) first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 41 273 K 313 * 41 liver HNF1A 1 c.956_956delG p.G319fs*23 length of cdnaseq = 1896 length of protseq = 631 956 956 G 1 319 2 319 2 g Total no. of codons in cdna seq = 632 ggt ggt start g-g end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 1895 ter codon is tag at posn 341 Protein length after deletion = 340 Total no. of codons in del cdnaseq = 632 last codon in array is aa aag (K) gtc (V) cac (H) ggt (G) ggt (G) gtg (V) cgc (R) tat (Y) gga (G) aag (K) gtc (V) cac (H) gtg (V) tgc (C) gct (A) atg (M) original frameshift length = 23 frameshift length = 23 frameshifted sequence: gtg (V) tgc (C) gct (A) atg (M) gac (D) agc (S) ctg (L) cga (R) cca (P) gtg (V) aga (R) ctg (L) cag (Q) aag (K) tac (Y) cct (P) caa (Q) gca (A) gcg (A) gcg (A) gtc (V) cct (P) tag (TER) wild type sequence in deletion region: ggt (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 23 319 G 341 * 23 liver HNF1A 2 c.872_872delC p.P291fs*51 length of cdnaseq = 1896 length of protseq = 631 872 872 C 1 291 2 291 2 c Total no. of codons in cdna seq = 632 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 1895 ter codon is tag at posn 341 Protein length after deletion = 340 Total no. of codons in del cdnaseq = 632 last codon in array is aa ggg (G) ccc (P) ccc (P) cca (P) cca (P) ggg (G) cca (P) ggc (G) ccg (P) ggg (G) ccc (P) ccc (P) cag (Q) ggc (G) cag (Q) gcc (A) original frameshift length = 51 frameshift length = 51 frameshifted sequence: cag (Q) ggc (G) cag (Q) gcc (A) cgg (R) gac (D) ctg (L) cgc (R) tgc (C) ccg (P) ctc (L) aca (T) gct (A) ccc (P) ctg (L) gcc (A) tgc (C) ctc (L) cac (H) ctg (L) ccc (P) tct (S) ccc (P) cca (P) gta (V) agg (R) tcc (S) acg (T) gtg (V) tgc (C) gct (A) atg (M) gac (D) agc (S) ctg (L) cga (R) cca (P) gtg (V) aga (R) ctg (L) cag (Q) aag (K) tac (Y) cct (P) caa (Q) gca (A) gcg (A) gcg (A) gtc (V) cct (P) tag (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 51 291 P 341 * 51 liver HNF1A 2 c.872_884del13 p.P291fs*47 length of cdnaseq = 1896 length of protseq = 631 872 884 13 13 291 2 295 2 cagggccaggccc Total no. of codons in cdna seq = 632 cca ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1883 ter codon is tag at posn 337 Protein length after deletion = 336 Total no. of codons in del cdnaseq = 628 last codon in array is aa ggg (G) ccc (P) ccc (P) cca (P) ccg (P) gga (G) cct (P) gcg (A) ctg (L) ggg (G) ccc (P) ccc (P) cgg (R) gac (D) ctg (L) cgc (R) original frameshift length = 47 frameshift length = 47 frameshifted sequence: cgg (R) gac (D) ctg (L) cgc (R) tgc (C) ccg (P) ctc (L) aca (T) gct (A) ccc (P) ctg (L) gcc (A) tgc (C) ctc (L) cac (H) ctg (L) ccc (P) tct (S) ccc (P) cca (P) gta (V) agg (R) tcc (S) acg (T) gtg (V) tgc (C) gct (A) atg (M) gac (D) agc (S) ctg (L) cga (R) cca (P) gtg (V) aga (R) ctg (L) cag (Q) aag (K) tac (Y) cct (P) caa (Q) gca (A) gcg (A) gcg (A) gtc (V) cct (P) tag (TER) wild type sequence in deletion region: cca (P) ggg (G) cca (P) ggc (G) ccg (P) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 47 291 P 337 * 47 pituitary HRAS 1 c.9delA p.E3fs*17 length of cdnaseq = 570 length of protseq = 189 9 9 A 1 3 3 3 3 a Total no. of codons in cdna seq = 190 gaa gaa start a-a post t end a-t ga- --- frameshift deletion length of cdnaseq after deletion = 569 ter codon is tga at posn 19 Protein length after deletion = 18 Total no. of codons in del cdnaseq = 190 last codon in array is ga --- ( ) atg (M) acg (T) gaa (E) gaa (E) tat (Y) aag (K) ctg (L) gtg (V) --- ( ) atg (M) acg (T) gat (D) ata (I) agc (S) tgg (W) original frameshift length = 17 frameshift length = 17 frameshifted sequence: gat (D) ata (I) agc (S) tgg (W) tgg (W) tgg (W) tgg (W) gcg (A) ccg (P) gcg (A) gtg (V) tgg (W) gca (A) aga (R) gtg (V) cgc (R) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 17 3 E 19 * 17 haematopoietic_and_lymphoid_tissue KIT 1 c.2333_2333delA p.K778fs*36 length of cdnaseq = 2931 length of protseq = 976 2333 2333 A 1 778 2 778 2 a Total no. of codons in cdna seq = 977 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 2930 ter codon is tag at posn 813 Protein length after deletion = 812 Total no. of codons in del cdnaseq = 977 last codon in array is ga cag (Q) gtg (V) gca (A) aag (K) aag (K) ggc (G) atg (M) gct (A) ttc (F) cag (Q) gtg (V) gca (A) agg (R) gca (A) tgg (W) ctt (L) original frameshift length = 36 frameshift length = 36 frameshifted sequence: agg (R) gca (A) tgg (W) ctt (L) tcc (S) tcg (S) cct (P) cca (P) aga (R) att (I) gta (V) ttc (F) aca (T) gag (E) act (T) tgg (W) cag (Q) cca (P) gaa (E) ata (I) tcc (S) tcc (S) tta (L) ctc (L) atg (M) gtc (V) gga (G) tca (S) caa (Q) aga (R) ttt (F) gtg (V) att (I) ttg (L) gtc (V) tag (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 36 778 K 813 * 36 soft_tissue KIT 1 c.1434_1462del29 p.D479fs*2 length of cdnaseq = 2931 length of protseq = 976 1434 1462 29 29 478 3 488 1 agattctagtgcattcaagcacaatggca Total no. of codons in cdna seq = 977 ata acg start t-a end a-c at- -cg frameshift deletion length of cdnaseq after deletion = 2902 ter codon is tga at posn 480 Protein length after deletion = 479 Total no. of codons in del cdnaseq = 968 last codon in array is a cag (Q) agt (S) tct (S) ata (I) acg (T) gtt (V) gaa (E) tgt (C) aag (K) cag (Q) agt (S) tct (S) atc (I) ggt (G) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: atc (I) ggt (G) tga (TER) wild type sequence in deletion region: ata (I) gat (D) tct (S) agt (S) gca (A) ttc (F) aag (K) cac (H) aat (N) ggc (G) acg (T) wt frameshift deln region length = 11 matching aa in delstart region of wt and deletion mutant: ata (I) atc (I) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 2 479 D 480 * 2 soft_tissue KIT 1 c.1439_1439delC p.S480fs*47 length of cdnaseq = 2931 length of protseq = 976 1439 1439 C 1 480 2 480 2 c Total no. of codons in cdna seq = 977 tct tct start t-c end c-t t-- --t frameshift deletion length of cdnaseq after deletion = 2930 ter codon is tga at posn 526 Protein length after deletion = 525 Total no. of codons in del cdnaseq = 977 last codon in array is ga tct (S) ata (I) gat (D) tct (S) tct (S) agt (S) gca (A) ttc (F) aag (K) tct (S) ata (I) gat (D) tta (L) gtg (V) cat (H) tca (S) original frameshift length = 47 frameshift length = 47 frameshifted sequence: tta (L) gtg (V) cat (H) tca (S) agc (S) aca (T) atg (M) gca (A) cgg (R) ttg (L) aat (N) gta (V) agg (R) ctt (L) aca (T) acg (T) atg (M) tgg (W) gca (A) aga (R) ctt (L) ctg (L) cct (P) att (I) tta (L) act (T) ttg (L) cat (H) tta (L) aag (K) gta (V) aca (T) aca (T) aag (K) agc (S) aaa (K) tcc (S) atc (I) ccc (P) aca (T) ccc (P) tgt (C) tca (S) ctc (L) ctt (L) tgc (C) tga (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 47 480 S 526 * 47 soft_tissue KIT 1 c.2089_2089delC p.H697fs*28 length of cdnaseq = 2931 length of protseq = 976 2089 2089 C 1 697 1 697 1 c Total no. of codons in cdna seq = 977 cat cat prev t start t-c end c-a --- -at frameshift deletion length of cdnaseq after deletion = 2930 ter codon is tga at posn 724 Protein length after deletion = 723 Total no. of codons in del cdnaseq = 977 last codon in array is ga cag (Q) gaa (E) gat (D) cat (H) cat (H) gca (A) gaa (E) gct (A) gca (A) cag (Q) gaa (E) gat (D) atg (M) cag (Q) aag (K) ctg (L) original frameshift length = 28 frameshift length = 28 frameshifted sequence: atg (M) cag (Q) aag (K) ctg (L) cac (H) ttt (F) ata (I) aga (R) atc (I) ttc (F) tgc (C) att (I) caa (Q) agg (R) agt (S) ctt (L) cct (P) gca (A) gcg (A) ata (I) gta (V) cta (L) atg (M) agt (S) aca (T) tgg (W) aca (T) tga (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 28 697 H 724 * 28 lung KRAS 1 c.205delG p.D69fs*4 length of cdnaseq = 567 length of protseq = 188 205 205 G 1 69 1 69 1 g Total no. of codons in cdna seq = 189 gac gac prev g start g-g end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 566 ter codon is tga at posn 72 Protein length after deletion = 71 Total no. of codons in del cdnaseq = 189 last codon in array is aa gca (A) atg (M) agg (R) gac (D) gac (D) cag (Q) tac (Y) atg (M) agg (R) gca (A) atg (M) agg (R) acc (T) agt (S) aca (T) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: acc (T) agt (S) aca (T) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 4 69 D 72 * 4 lung KRAS 1 c.35delG p.G12fs*3 length of cdnaseq = 567 length of protseq = 188 35 35 G 1 12 2 12 2 g Total no. of codons in cdna seq = 189 ggt ggt start g-g end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 566 ter codon is tag at posn 14 Protein length after deletion = 13 Total no. of codons in del cdnaseq = 189 last codon in array is aa gtt (V) gga (G) gct (A) ggt (G) ggt (G) ggc (G) gta (V) ggc (G) aag (K) gtt (V) gga (G) gct (A) gtg (V) gcg (A) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gtg (V) gcg (A) tag (TER) wild type sequence in deletion region: ggt (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 3 12 G 14 * 3 lung MAP2K4 1 c.882_882delG p.I295fs*23 length of cdnaseq = 1200 length of protseq = 399 882 882 G 1 294 3 294 3 g Total no. of codons in cdna seq = 400 ggg ggg start g-g post a end g-a gg- --- frameshift deletion length of cdnaseq after deletion = 1199 ter codon is taa at posn 317 Protein length after deletion = 316 Total no. of codons in del cdnaseq = 400 last codon in array is ga tgg (W) agt (S) ttg (L) ggg (G) ggg (G) atc (I) aca (T) ttg (L) tat (Y) tgg (W) agt (S) ttg (L) gga (G) tca (S) cat (H) tgt (C) original frameshift length = 24 frameshift length = 24 frameshifted sequence: gga (G) tca (S) cat (H) tgt (C) atg (M) agt (S) tgg (W) cca (P) cag (Q) gcc (A) gat (D) ttc (F) ctt (L) atc (I) caa (Q) agt (S) gga (G) ata (I) gtg (V) tat (Y) ttg (L) atc (I) aac (N) taa (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 23 295 I 317 * 23 gastrointestinal_tract_site_indeterminate MEN1 1 c.1033_1033delG p.A345fs*23 length of cdnaseq = 1833 length of protseq = 610 1033 1033 G 1 345 1 345 1 g Total no. of codons in cdna seq = 611 gcc gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 367 Protein length after deletion = 366 Total no. of codons in del cdnaseq = 611 last codon in array is ga gcg (A) gac (D) acg (T) gcc (A) gcc (A) act (T) gtc (V) atc (I) cag (Q) gcg (A) gac (D) acg (T) cca (P) ctg (L) tca (S) tcc (S) original frameshift length = 23 frameshift length = 23 frameshifted sequence: cca (P) ctg (L) tca (S) tcc (S) agg (R) act (T) aca (T) act (T) act (T) gcc (A) ggg (G) aag (K) acg (T) agg (R) aga (R) tct (S) aca (T) agg (R) agt (S) tct (S) ttg (L) aag (K) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 23 345 A 367 * 23 gastrointestinal_tract_site_indeterminate MEN1 1 c.402_402delC p.F134fs*51 length of cdnaseq = 1833 length of protseq = 610 402 402 C 1 134 3 134 3 c Total no. of codons in cdna seq = 611 ttc ttc start t-c post a end c-a tt- --- frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 184 Protein length after deletion = 183 Total no. of codons in del cdnaseq = 611 last codon in array is ga cgc (R) tcc (S) tac (Y) ttc (F) ttc (F) aag (K) gat (D) cgg (R) gcc (A) cgc (R) tcc (S) tac (Y) tta (L) agg (R) atc (I) ggg (G) original frameshift length = 51 frameshift length = 51 frameshifted sequence: tta (L) agg (R) atc (I) ggg (G) ccc (P) aca (T) tcc (S) agt (S) ccc (P) tct (S) tca (S) gct (A) tca (S) tca (S) cag (Q) gca (A) cca (P) aat (N) tgg (W) aca (T) gct (A) ccg (P) gtg (V) tgg (W) cct (P) ttg (L) ctg (L) tgg (W) ttg (L) ggg (G) cct (P) gcc (A) agg (R) ccc (P) tgg (W) gtc (V) tcc (S) ggg (G) atg (M) tcc (S) acc (T) tcg (S) ccc (P) tgt (C) ctg (L) agg (R) atc (I) atg (M) cct (P) ggg (G) tag (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 51 134 F 184 * 51 gastrointestinal_tract_site_indeterminate MEN1 1 c.419_419delT p.I140fs*45 length of cdnaseq = 1833 length of protseq = 610 419 419 T 1 140 2 140 2 t Total no. of codons in cdna seq = 611 atc atc start a-t end t-c a-- --c frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 184 Protein length after deletion = 183 Total no. of codons in del cdnaseq = 611 last codon in array is ga cgg (R) gcc (A) cac (H) atc (I) atc (I) cag (Q) tcc (S) ctc (L) ttc (F) cgg (R) gcc (A) cac (H) acc (T) agt (S) ccc (P) tct (S) original frameshift length = 45 frameshift length = 45 frameshifted sequence: acc (T) agt (S) ccc (P) tct (S) tca (S) gct (A) tca (S) tca (S) cag (Q) gca (A) cca (P) aat (N) tgg (W) aca (T) gct (A) ccg (P) gtg (V) tgg (W) cct (P) ttg (L) ctg (L) tgg (W) ttg (L) ggg (G) cct (P) gcc (A) agg (R) ccc (P) tgg (W) gtc (V) tcc (S) ggg (G) atg (M) tcc (S) acc (T) tcg (S) ccc (P) tgt (C) ctg (L) agg (R) atc (I) atg (M) cct (P) ggg (G) tag (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 45 140 I 184 * 45 gastrointestinal_tract_site_indeterminate MEN1 1 c.620_620delG p.G208fs*16 length of cdnaseq = 1833 length of protseq = 610 620 620 G 1 207 2 207 2 g Total no. of codons in cdna seq = 611 agg agg start a-g end g-g a-- --g frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 223 Protein length after deletion = 222 Total no. of codons in del cdnaseq = 611 last codon in array is ga gag (E) gac (D) cgc (R) agg (R) agg (R) ggc (G) cag (Q) aca (T) gtc (V) gag (E) gac (D) cgc (R) agg (R) gcc (A) aga (R) cag (Q) original frameshift length = 17 frameshift length = 17 frameshifted sequence: agg (R) gcc (A) aga (R) cag (Q) tca (S) atg (M) ccg (P) gtg (V) tgg (W) ctg (L) agc (S) gga (G) gct (A) ggc (G) tgt (C) acc (T) tga (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agg (R) agg (R) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 16 208 G 223 * 16 gastrointestinal_tract_site_indeterminate MEN1 1 c.673_673delG p.G225fs*56 length of cdnaseq = 1833 length of protseq = 610 673 673 G 1 225 1 225 1 g Total no. of codons in cdna seq = 611 gga gga prev a start a-g end g-g --- -ga frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 280 Protein length after deletion = 279 Total no. of codons in del cdnaseq = 611 last codon in array is ga tac (Y) ctg (L) aaa (K) gga (G) gga (G) tca (S) tac (Y) atg (M) cgc (R) tac (Y) ctg (L) aaa (K) gat (D) cat (H) aca (T) tgc (C) original frameshift length = 56 frameshift length = 56 frameshifted sequence: gat (D) cat (H) aca (T) tgc (C) gct (A) gtg (V) acc (T) gca (A) aga (R) tgg (W) agg (R) tgg (W) cgt (R) tca (S) tgg (W) tgt (C) gtg (V) cca (P) tca (S) acc (T) ctt (L) cca (P) ttg (L) acc (T) tgc (C) aca (T) ccg (P) act (T) cgc (R) tgg (W) agc (S) ttc (F) tgc (C) agc (S) tgc (C) agc (S) aga (R) agc (S) tgc (C) tct (S) ggc (G) tgc (C) tct (S) atg (M) acc (T) tgg (W) gac (D) atc (I) tgg (W) aaa (K) ggt (G) acc (T) cca (P) tgg (W) cct (P) tag (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 56 225 G 280 * 56 gastrointestinal_tract_site_indeterminate MEN1 1 c.794_794delG p.W265fs*16 length of cdnaseq = 1833 length of protseq = 610 794 794 G 1 265 2 265 2 g Total no. of codons in cdna seq = 611 tgg tgg start t-g end g-g t-- --g frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 280 Protein length after deletion = 279 Total no. of codons in del cdnaseq = 611 last codon in array is ga aag (K) ctg (L) ctc (L) tgg (W) tgg (W) ctg (L) ctc (L) tat (Y) gac (D) aag (K) ctg (L) ctc (L) tgc (C) tgc (C) tct (S) atg (M) original frameshift length = 16 frameshift length = 16 frameshifted sequence: tgc (C) tgc (C) tct (S) atg (M) acc (T) tgg (W) gac (D) atc (I) tgg (W) aaa (K) ggt (G) acc (T) cca (P) tgg (W) cct (P) tag (TER) wild type sequence in deletion region: tgg (W) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 16 265 W 280 * 16 lung MEN1 1 c.1116_1116delC p.N374fs*3 length of cdnaseq = 1833 length of protseq = 610 1116 1116 C 1 372 3 372 3 c Total no. of codons in cdna seq = 611 atc atc start t-c post c end c-c at- --- frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 376 Protein length after deletion = 375 Total no. of codons in del cdnaseq = 611 last codon in array is ga aat (N) gat (D) gtc (V) atc (I) atc (I) ccc (P) aac (N) ctg (L) ctg (L) aat (N) gat (D) gtc (V) atc (I) cca (P) acc (T) tgc (C) original frameshift length = 5 frameshift length = 5 frameshifted sequence: atc (I) cca (P) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: atc (I) atc (I) matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 3 374 N 376 * 3 lung MEN1 1 c.1351_1351delG p.V451fs*7 length of cdnaseq = 1833 length of protseq = 610 1351 1351 G 1 451 1 451 1 g Total no. of codons in cdna seq = 611 gtg gtg prev g start g-g end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 457 Protein length after deletion = 456 Total no. of codons in del cdnaseq = 611 last codon in array is ga gag (E) gga (G) cag (Q) gtg (V) gtg (V) cgg (R) cag (Q) aag (K) gtg (V) gag (E) gga (G) cag (Q) tgc (C) ggc (G) aga (R) agg (R) original frameshift length = 7 frameshift length = 7 frameshifted sequence: tgc (C) ggc (G) aga (R) agg (R) tgc (C) gca (A) tag (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 7 451 V 457 * 7 lung MEN1 1 c.24_36del13 p.K8fs*107 length of cdnaseq = 1833 length of protseq = 610 24 36 13 13 8 3 12 3 gacgctgttcccg Total no. of codons in cdna seq = 611 aag ccg start a-g post c end g-c aa- --- frameshift deletion length of cdnaseq after deletion = 1820 ter codon is tga at posn 114 Protein length after deletion = 113 Total no. of codons in del cdnaseq = 607 last codon in array is ga gcc (A) gcc (A) cag (Q) aag (K) ccg (P) ctg (L) cgc (R) tcc (S) atc (I) gcc (A) gcc (A) cag (Q) aac (N) tgc (C) gct (A) cca (P) original frameshift length = 107 frameshift length = 107 frameshifted sequence: aac (N) tgc (C) gct (A) cca (P) tcg (S) acg (T) acg (T) tgg (W) tgc (C) gcc (A) tgt (C) ttg (L) ctg (L) ccg (P) agc (S) tgg (W) gcc (A) gag (E) agg (R) agc (S) cgg (R) acc (T) tgg (W) tgc (C) tcc (S) ttt (F) cct (P) tgg (W) tgc (C) tgg (W) gct (A) tcg (S) tgg (W) agc (S) att (I) ttc (F) tgg (W) ctg (L) tca (S) acc (T) gcg (A) tca (S) tcc (S) cta (L) cca (P) acg (T) ttc (F) ccg (P) agc (S) tca (S) cct (P) tcc (S) agc (S) cca (P) gcc (A) ccg (P) ccc (P) ccg (P) acc (T) cgc (R) ctg (L) gcg (A) gcc (A) tca (S) cct (P) act (T) ttc (F) ccg (P) tgg (W) ccg (P) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: aag (K) acg (T) ctg (L) ttc (F) ccg (P) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 107 8 K 114 * 107 NS MEN1 1 c.1102_1108delGCCAATG p.A368fs*7 length of cdnaseq = 1833 length of protseq = 610 1102 1108 GCCAATG 7 368 1 370 1 gccaatg Total no. of codons in cdna seq = 611 gcc gat prev a start a-g end g-a --- -at frameshift deletion length of cdnaseq after deletion = 1826 ter codon is tga at posn 374 Protein length after deletion = 373 Total no. of codons in del cdnaseq = 609 last codon in array is ga ttt (F) gaa (E) gta (V) gcc (A) gat (D) gtc (V) atc (I) ccc (P) aac (N) ttt (F) gaa (E) gta (V) atg (M) tca (S) tcc (S) cca (P) original frameshift length = 7 frameshift length = 7 frameshifted sequence: atg (M) tca (S) tcc (S) cca (P) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: gcc (A) aat (N) gat (D) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 7 368 A 374 * 7 NS MEN1 1 c.248_272del25 p.L83fs*28 length of cdnaseq = 1833 length of protseq = 610 248 272 25 25 83 2 91 2 tgtctatcatcgccgccctctatgc Total no. of codons in cdna seq = 611 ctg gcc start c-t end c-c c-- --c frameshift deletion length of cdnaseq after deletion = 1808 ter codon is tga at posn 110 Protein length after deletion = 109 Total no. of codons in del cdnaseq = 603 last codon in array is ga gtg (V) gcc (A) gac (D) ctg (L) gcc (A) cgc (R) ttc (F) acc (T) gcc (A) gtg (V) gcc (A) gac (D) ccc (P) gct (A) tca (S) ccg (P) original frameshift length = 28 frameshift length = 28 frameshifted sequence: ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: ctg (L) tct (S) atc (I) atc (I) gcc (A) gcc (A) ctc (L) tat (Y) gcc (A) wt frameshift deln region length = 9 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 28 83 L 110 * 28 pancreas MEN1 1 c.1033_1033delG p.A345fs*23 length of cdnaseq = 1833 length of protseq = 610 1033 1033 G 1 345 1 345 1 g Total no. of codons in cdna seq = 611 gcc gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 367 Protein length after deletion = 366 Total no. of codons in del cdnaseq = 611 last codon in array is ga gcg (A) gac (D) acg (T) gcc (A) gcc (A) act (T) gtc (V) atc (I) cag (Q) gcg (A) gac (D) acg (T) cca (P) ctg (L) tca (S) tcc (S) original frameshift length = 23 frameshift length = 23 frameshifted sequence: cca (P) ctg (L) tca (S) tcc (S) agg (R) act (T) aca (T) act (T) act (T) gcc (A) ggg (G) aag (K) acg (T) agg (R) aga (R) tct (S) aca (T) agg (R) agt (S) tct (S) ttg (L) aag (K) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 23 345 A 367 * 23 pancreas MEN1 1 c.1159_1159delG p.E387fs*58 length of cdnaseq = 1833 length of protseq = 610 1159 1159 G 1 387 1 387 1 g Total no. of codons in cdna seq = 611 gag gag prev c start c-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 444 Protein length after deletion = 443 Total no. of codons in del cdnaseq = 611 last codon in array is ga gag (E) gcg (A) ggc (G) gag (E) gag (E) gag (E) cgg (R) ccg (P) ggg (G) gag (E) gcg (A) ggc (G) agg (R) agc (S) ggc (G) cgg (R) original frameshift length = 58 frameshift length = 58 frameshifted sequence: agg (R) agc (S) ggc (G) cgg (R) ggg (G) agc (S) aaa (K) gcc (A) agg (R) gca (A) ccc (P) aga (R) gcc (A) aag (K) gtt (V) ccg (P) ccc (P) tcc (S) agg (R) acc (T) ctg (L) agt (S) gct (A) tcg (S) ccc (P) acc (T) tgc (C) tgc (C) gat (D) tct (S) acg (T) acg (T) gca (A) tct (S) gca (A) aat (N) ggg (G) agg (R) agg (R) gca (A) gtc (V) cca (P) cgc (R) ctg (L) tgc (C) tgc (C) atg (M) tgg (W) gct (A) ggg (G) cca (P) cct (P) ttc (F) ttg (L) tgc (C) agt (S) ccc (P) tag (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 58 387 E 444 * 58 pancreas MEN1 1 c.210_225del16 p.D70fs*44 length of cdnaseq = 1833 length of protseq = 610 210 225 16 16 70 3 75 3 cccgcctggcggcctc Total no. of codons in cdna seq = 611 gac ctc start a-c post a end c-a ga- --- frameshift deletion length of cdnaseq after deletion = 1817 ter codon is tga at posn 113 Protein length after deletion = 112 Total no. of codons in del cdnaseq = 606 last codon in array is ga ccc (P) gcc (A) ccc (P) gac (D) ctc (L) acc (T) tac (Y) ttt (F) ccc (P) ccc (P) gcc (A) ccc (P) gaa (E) cct (P) act (T) ttc (F) original frameshift length = 44 frameshift length = 44 frameshifted sequence: gaa (E) cct (P) act (T) ttc (F) ccg (P) tgg (W) ccg (P) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: gac (D) ccg (P) cct (P) ggc (G) ggc (G) ctc (L) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 44 70 D 113 * 44 pancreas MEN1 1 c.212_218delCGCCTGG p.P72fs*45 length of cdnaseq = 1833 length of protseq = 610 212 218 CGCCTGG 7 71 2 73 2 cgcctgg Total no. of codons in cdna seq = 611 ccg ggc start c-c end g-c c-- --c frameshift deletion length of cdnaseq after deletion = 1826 ter codon is tga at posn 116 Protein length after deletion = 115 Total no. of codons in del cdnaseq = 609 last codon in array is ga gcc (A) ccc (P) gac (D) ccg (P) ggc (G) ggc (G) ctc (L) acc (T) tac (Y) gcc (A) ccc (P) gac (D) ccg (P) gcc (A) tca (S) cct (P) original frameshift length = 46 frameshift length = 46 frameshifted sequence: ccg (P) gcc (A) tca (S) cct (P) act (T) ttc (F) ccg (P) tgg (W) ccg (P) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: ccg (P) cct (P) ggc (G) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ccg (P) ccg (P) first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 45 72 P 116 * 45 pancreas MEN1 1 c.248_251delTGTC p.I85fs*33 length of cdnaseq = 1833 length of protseq = 610 248 251 TGTC 4 83 2 84 2 tgtc Total no. of codons in cdna seq = 611 ctg tct start c-t end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1829 ter codon is tga at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 610 last codon in array is ga gtg (V) gcc (A) gac (D) ctg (L) tct (S) atc (I) atc (I) gcc (A) gcc (A) gtg (V) gcc (A) gac (D) cta (L) tca (S) tcg (S) ccg (P) original frameshift length = 35 frameshift length = 35 frameshifted sequence: cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: ctg (L) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctg (L) cta (L) matching aa in delstart region of wt and deletion mutant: tct (S) tca (S) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 33 85 I 117 * 33 pancreas MEN1 1 c.249_252delGTCT p.I85fs*33 length of cdnaseq = 1833 length of protseq = 610 249 252 GTCT 4 83 3 84 3 gtct Total no. of codons in cdna seq = 611 ctg tct start t-g post a end t-a ct- --- frameshift deletion length of cdnaseq after deletion = 1829 ter codon is tga at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 610 last codon in array is ga gtg (V) gcc (A) gac (D) ctg (L) tct (S) atc (I) atc (I) gcc (A) gcc (A) gtg (V) gcc (A) gac (D) cta (L) tca (S) tcg (S) ccg (P) original frameshift length = 35 frameshift length = 35 frameshifted sequence: cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: ctg (L) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctg (L) cta (L) matching aa in delstart region of wt and deletion mutant: tct (S) tca (S) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 33 85 I 117 * 33 pancreas MEN1 1 c.373_374delAT p.I125fs*54 length of cdnaseq = 1833 length of protseq = 610 373 374 AT 2 125 1 125 2 at Total no. of codons in cdna seq = 611 ata ata prev c start c-a end t-a --- --a frameshift deletion length of cdnaseq after deletion = 1831 ter codon is tga at posn 178 Protein length after deletion = 177 Total no. of codons in del cdnaseq = 611 last codon in array is a tcc (S) gat (D) gtc (V) ata (I) ata (I) tgg (W) aac (N) agc (S) ctc (L) tcc (S) gat (D) gtc (V) atg (M) gaa (E) cag (Q) cct (P) original frameshift length = 54 frameshift length = 54 frameshifted sequence: atg (M) gaa (E) cag (Q) cct (P) cag (Q) ccg (P) ctc (L) cta (L) ctt (L) caa (Q) gga (G) tcg (S) ggc (G) cca (P) cat (H) cca (P) gtc (V) cct (P) ctt (L) cag (Q) ctt (L) cat (H) cac (H) agg (R) cac (H) caa (Q) att (I) gga (G) cag (Q) ctc (L) cgg (R) tgt (C) ggc (G) ctt (L) tgc (C) tgt (C) ggt (G) tgg (W) ggc (G) ctg (L) cca (P) ggc (G) cct (P) ggg (G) tct (S) ccg (P) gga (G) tgt (C) cca (P) cct (P) cgc (R) cct (P) gtc (V) tga (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 54 125 I 178 * 54 pancreas MEN1 1 c.37_97del61 p.L13fs*86 length of cdnaseq = 1833 length of protseq = 610 37 97 61 61 13 1 33 1 ctgcgctccatcgacgacgtggtgcgcctgtttgctgccgagctgggccgagaggagccgg Total no. of codons in cdna seq = 611 ctg gac prev g start g-c end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 1772 ter codon is tga at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 591 last codon in array is ga ctg (L) ttc (F) ccg (P) ctg (L) gac (D) ctg (L) gtg (V) ctc (L) ctt (L) ctg (L) ttc (F) ccg (P) acc (T) tgg (W) tgc (C) tcc (S) original frameshift length = 86 frameshift length = 86 frameshifted sequence: acc (T) tgg (W) tgc (C) tcc (S) ttt (F) cct (P) tgg (W) tgc (C) tgg (W) gct (A) tcg (S) tgg (W) agc (S) att (I) ttc (F) tgg (W) ctg (L) tca (S) acc (T) gcg (A) tca (S) tcc (S) cta (L) cca (P) acg (T) ttc (F) ccg (P) agc (S) tca (S) cct (P) tcc (S) agc (S) cca (P) gcc (A) ccg (P) ccc (P) ccg (P) acc (T) cgc (R) ctg (L) gcg (A) gcc (A) tca (S) cct (P) act (T) ttc (F) ccg (P) tgg (W) ccg (P) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: ctg (L) cgc (R) tcc (S) atc (I) gac (D) gac (D) gtg (V) gtg (V) cgc (R) ctg (L) ttt (F) gct (A) gcc (A) gag (E) ctg (L) ggc (G) cga (R) gag (E) gag (E) ccg (P) gac (D) wt frameshift deln region length = 21 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 86 13 L 98 * 86 pancreas MEN1 1 c.412_412delG p.A138fs*47 length of cdnaseq = 1833 length of protseq = 610 412 412 G 1 138 1 138 1 g Total no. of codons in cdna seq = 611 gcc gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 184 Protein length after deletion = 183 Total no. of codons in del cdnaseq = 611 last codon in array is ga aag (K) gat (D) cgg (R) gcc (A) gcc (A) cac (H) atc (I) cag (Q) tcc (S) aag (K) gat (D) cgg (R) ccc (P) aca (T) tcc (S) agt (S) original frameshift length = 47 frameshift length = 47 frameshifted sequence: ccc (P) aca (T) tcc (S) agt (S) ccc (P) tct (S) tca (S) gct (A) tca (S) tca (S) cag (Q) gca (A) cca (P) aat (N) tgg (W) aca (T) gct (A) ccg (P) gtg (V) tgg (W) cct (P) ttg (L) ctg (L) tgg (W) ttg (L) ggg (G) cct (P) gcc (A) agg (R) ccc (P) tgg (W) gtc (V) tcc (S) ggg (G) atg (M) tcc (S) acc (T) tcg (S) ccc (P) tgt (C) ctg (L) agg (R) atc (I) atg (M) cct (P) ggg (G) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 47 138 A 184 * 47 pancreas MEN1 1 c.734_734delC p.P245fs*36 length of cdnaseq = 1833 length of protseq = 610 734 734 C 1 245 2 245 2 c Total no. of codons in cdna seq = 611 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 280 Protein length after deletion = 279 Total no. of codons in del cdnaseq = 611 last codon in array is ga gcc (A) atc (I) aac (N) cct (P) cct (P) tcc (S) att (I) gac (D) ctg (L) gcc (A) atc (I) aac (N) ctt (L) cca (P) ttg (L) acc (T) original frameshift length = 36 frameshift length = 36 frameshifted sequence: ctt (L) cca (P) ttg (L) acc (T) tgc (C) aca (T) ccg (P) act (T) cgc (R) tgg (W) agc (S) ttc (F) tgc (C) agc (S) tgc (C) agc (S) aga (R) agc (S) tgc (C) tct (S) ggc (G) tgc (C) tct (S) atg (M) acc (T) tgg (W) gac (D) atc (I) tgg (W) aaa (K) ggt (G) acc (T) cca (P) tgg (W) cct (P) tag (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 36 245 P 280 * 36 parathyroid MEN1 1 c.1034_1034delC p.T346fs*22 length of cdnaseq = 1833 length of protseq = 610 1034 1034 C 1 345 2 345 2 c Total no. of codons in cdna seq = 611 gcc gcc start g-c end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 367 Protein length after deletion = 366 Total no. of codons in del cdnaseq = 611 last codon in array is ga gcg (A) gac (D) acg (T) gcc (A) gcc (A) act (T) gtc (V) atc (I) cag (Q) gcg (A) gac (D) acg (T) gca (A) ctg (L) tca (S) tcc (S) original frameshift length = 23 frameshift length = 23 frameshifted sequence: gca (A) ctg (L) tca (S) tcc (S) agg (R) act (T) aca (T) act (T) act (T) gcc (A) ggg (G) aag (K) acg (T) agg (R) aga (R) tct (S) aca (T) agg (R) agt (S) tct (S) ttg (L) aag (K) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 22 346 T 367 * 22 parathyroid MEN1 1 c.1256_1256delG p.G419fs*26 length of cdnaseq = 1833 length of protseq = 610 1256 1256 G 1 419 2 419 2 g Total no. of codons in cdna seq = 611 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 444 Protein length after deletion = 443 Total no. of codons in del cdnaseq = 611 last codon in array is ga ttc (F) tac (Y) gac (D) ggc (G) ggc (G) atc (I) tgc (C) aaa (K) tgg (W) ttc (F) tac (Y) gac (D) gca (A) tct (S) gca (A) aat (N) original frameshift length = 26 frameshift length = 26 frameshifted sequence: gca (A) tct (S) gca (A) aat (N) ggg (G) agg (R) agg (R) gca (A) gtc (V) cca (P) cgc (R) ctg (L) tgc (C) tgc (C) atg (M) tgg (W) gct (A) ggg (G) cca (P) cct (P) ttc (F) ttg (L) tgc (C) agt (S) ccc (P) tag (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 26 419 G 444 * 26 parathyroid MEN1 1 c.1313_1331del19 p.T438fs*14 length of cdnaseq = 1833 length of protseq = 610 1313 1331 19 19 438 2 444 2 cctttcttgtgcagtccct Total no. of codons in cdna seq = 611 acc cta start a-c end t-a a-- --a frameshift deletion length of cdnaseq after deletion = 1814 ter codon is tag at posn 451 Protein length after deletion = 450 Total no. of codons in del cdnaseq = 605 last codon in array is ga ggc (G) tgg (W) gcc (A) acc (T) cta (L) ggc (G) cgt (R) ttt (F) gag (E) ggc (G) tgg (W) gcc (A) aag (K) gcc (A) gtt (V) ttg (L) original frameshift length = 14 frameshift length = 14 frameshifted sequence: aag (K) gcc (A) gtt (V) ttg (L) agg (R) gac (D) agg (R) tgc (C) ggc (G) aga (R) agg (R) tgc (C) gca (A) tag (TER) wild type sequence in deletion region: acc (T) ttt (F) ctt (L) gtg (V) cag (Q) tcc (S) cta (L) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 14 438 T 451 * 14 parathyroid MEN1 1 c.1360_1360delA p.K454fs*4 length of cdnaseq = 1833 length of protseq = 610 1360 1360 A 1 454 1 454 1 a Total no. of codons in cdna seq = 611 aag aag prev g start g-a end a-a --- -ag frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 457 Protein length after deletion = 456 Total no. of codons in del cdnaseq = 611 last codon in array is ga gtg (V) cgg (R) cag (Q) aag (K) aag (K) gtg (V) cgc (R) ata (I) gtg (V) gtg (V) cgg (R) cag (Q) agg (R) tgc (C) gca (A) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: agg (R) tgc (C) gca (A) tag (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 4 454 K 457 * 4 parathyroid MEN1 1 c.1361_1362delAG p.K454fs*76 length of cdnaseq = 1833 length of protseq = 610 1361 1362 AG 2 454 2 454 3 ag Total no. of codons in cdna seq = 611 aag aag start a-a post g end g-g a-- --- frameshift deletion length of cdnaseq after deletion = 1831 ter codon is tga at posn 529 Protein length after deletion = 528 Total no. of codons in del cdnaseq = 611 last codon in array is a gtg (V) cgg (R) cag (Q) aag (K) aag (K) gtg (V) cgc (R) ata (I) gtg (V) gtg (V) cgg (R) cag (Q) agt (S) gcg (A) cat (H) agt (S) original frameshift length = 76 frameshift length = 76 frameshifted sequence: agt (S) gcg (A) cat (H) agt (S) gag (E) ccg (P) aga (R) ggc (G) cga (R) ggc (G) ggc (G) cga (R) ggc (G) cga (R) gga (G) gcc (A) gtg (V) ggg (G) cga (R) gga (G) agc (S) ccg (P) gga (G) agg (R) ccg (P) gcg (A) gcg (A) ggg (G) ccc (P) acg (T) gcg (A) gga (G) gtc (V) caa (Q) gcc (A) aga (R) gga (G) gcc (A) ccc (P) gcc (A) gcc (A) caa (Q) gaa (E) gcc (A) agc (S) act (T) gga (G) caa (Q) ggg (G) cct (P) ggg (G) cac (H) cgg (R) cca (P) ggg (G) tgc (C) agt (S) gtc (V) agg (R) acc (T) ccc (P) ccg (P) gaa (E) gcc (A) tcc (S) tgg (W) gac (D) tgt (C) cgc (R) tgg (W) cac (H) agc (S) ccg (P) agg (R) ccc (P) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 76 454 K 529 * 76 parathyroid MEN1 1 c.151_151delA p.N51fs*68 length of cdnaseq = 1833 length of protseq = 610 151 151 A 1 51 1 51 1 a Total no. of codons in cdna seq = 611 aac aac prev c start c-a end a-a --- -ac frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 611 last codon in array is ga ctg (L) gct (A) gtc (V) aac (N) aac (N) cgc (R) gtc (V) atc (I) cct (P) ctg (L) gct (A) gtc (V) acc (T) gcg (A) tca (S) tcc (S) original frameshift length = 68 frameshift length = 68 frameshifted sequence: acc (T) gcg (A) tca (S) tcc (S) cta (L) cca (P) acg (T) ttc (F) ccg (P) agc (S) tca (S) cct (P) tcc (S) agc (S) cca (P) gcc (A) ccg (P) ccc (P) ccg (P) acc (T) cgc (R) ctg (L) gcg (A) gcc (A) tca (S) cct (P) act (T) ttc (F) ccg (P) tgg (W) ccg (P) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 68 51 N 118 * 68 parathyroid MEN1 1 c.163_173del11 p.P55fs*58 length of cdnaseq = 1833 length of protseq = 610 163 173 11 11 55 1 58 2 cctaccaacgt Total no. of codons in cdna seq = 611 cct gtt prev c start c-c end t-t --- --t frameshift deletion length of cdnaseq after deletion = 1822 ter codon is tga at posn 112 Protein length after deletion = 111 Total no. of codons in del cdnaseq = 608 last codon in array is a cgc (R) gtc (V) atc (I) cct (P) gtt (V) ccc (P) gag (E) ctc (L) acc (T) cgc (R) gtc (V) atc (I) tcc (S) cga (R) gct (A) cac (H) original frameshift length = 58 frameshift length = 58 frameshifted sequence: tcc (S) cga (R) gct (A) cac (H) ctt (L) cca (P) gcc (A) cag (Q) ccc (P) cgc (R) ccc (P) cga (R) ccc (P) gcc (A) tgg (W) cgg (R) cct (P) cac (H) cta (L) ctt (L) tcc (S) cgt (R) ggc (G) cga (R) cct (P) gtc (V) tat (Y) cat (H) cgc (R) cgc (R) cct (P) cta (L) tgc (C) ccg (P) ctt (L) cac (H) cgc (R) cca (P) gat (D) ccg (P) agg (R) cgc (R) cgt (R) cga (R) cct (P) gtc (V) cct (P) cta (L) tcc (S) tcg (S) aga (R) agg (R) ggg (G) tgt (C) ctc (L) cag (Q) ccg (P) tga (TER) wild type sequence in deletion region: cct (P) acc (T) aac (N) gtt (V) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 58 55 P 112 * 58 parathyroid MEN1 1 c.168_171delCAAC p.N57fs*61 length of cdnaseq = 1833 length of protseq = 610 168 171 CAAC 4 56 3 57 3 caac Total no. of codons in cdna seq = 611 acc aac start c-c post g end c-g ac- --- frameshift deletion length of cdnaseq after deletion = 1829 ter codon is tga at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 610 last codon in array is ga gtc (V) atc (I) cct (P) acc (T) aac (N) gtt (V) ccc (P) gag (E) ctc (L) gtc (V) atc (I) cct (P) acg (T) ttc (F) ccg (P) agc (S) original frameshift length = 62 frameshift length = 62 frameshifted sequence: acg (T) ttc (F) ccg (P) agc (S) tca (S) cct (P) tcc (S) agc (S) cca (P) gcc (A) ccg (P) ccc (P) ccg (P) acc (T) cgc (R) ctg (L) gcg (A) gcc (A) tca (S) cct (P) act (T) ttc (F) ccg (P) tgg (W) ccg (P) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: acc (T) aac (N) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: acc (T) acg (T) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 61 57 N 117 * 61 parathyroid MEN1 1 c.1702_1706delACCAA p.T568fs*27 length of cdnaseq = 1833 length of protseq = 610 1702 1706 ACCAA 5 568 1 569 2 accaa Total no. of codons in cdna seq = 611 acc aag prev c start c-a end a-g --- --g frameshift deletion length of cdnaseq after deletion = 1828 ter codon is tag at posn 594 Protein length after deletion = 593 Total no. of codons in del cdnaseq = 610 last codon in array is a ctg (L) gtg (V) gcc (A) acc (T) aag (K) atc (I) aac (N) tcg (S) agc (S) ctg (L) gtg (V) gcc (A) gat (D) caa (Q) ctc (L) gag (E) original frameshift length = 27 frameshift length = 27 frameshifted sequence: gat (D) caa (Q) ctc (L) gag (E) cgc (R) cat (H) caa (Q) gct (A) gca (A) act (T) cac (H) ggc (G) aca (T) gtc (V) gca (A) agt (S) gca (A) gat (D) gaa (E) gaa (E) gca (A) gaa (E) agt (S) gtc (V) cac (H) ccc (P) tag (TER) wild type sequence in deletion region: acc (T) aag (K) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 27 568 T 594 * 27 parathyroid MEN1 1 c.1704_1704delC p.K569fs*19 length of cdnaseq = 1833 length of protseq = 610 1704 1704 C 1 568 3 568 3 c Total no. of codons in cdna seq = 611 acc acc start c-c post a end c-a ac- --- frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 587 Protein length after deletion = 586 Total no. of codons in del cdnaseq = 611 last codon in array is ga ctg (L) gtg (V) gcc (A) acc (T) acc (T) aag (K) atc (I) aac (N) tcg (S) ctg (L) gtg (V) gcc (A) aca (T) aga (R) tca (S) act (T) original frameshift length = 20 frameshift length = 20 frameshifted sequence: aca (T) aga (R) tca (S) act (T) cga (R) gcg (A) cca (P) tca (S) agc (S) tgc (C) aac (N) tca (S) cgg (R) cac (H) agt (S) cgc (R) aag (K) tgc (C) aga (R) tga (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acc (T) aca (T) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 19 569 K 587 * 19 parathyroid MEN1 1 c.194_219del26 p.P65fs*43 length of cdnaseq = 1833 length of protseq = 610 194 219 26 26 65 2 73 3 ccagccccgcccccgacccgcctggc Total no. of codons in cdna seq = 611 ccc ggc start c-c post g end c-g c-- --- frameshift deletion length of cdnaseq after deletion = 1807 ter codon is tga at posn 107 Protein length after deletion = 106 Total no. of codons in del cdnaseq = 603 last codon in array is a acc (T) ttc (F) cag (Q) ccc (P) ggc (G) ggc (G) ctc (L) acc (T) tac (Y) acc (T) ttc (F) cag (Q) cgg (R) cct (P) cac (H) cta (L) original frameshift length = 43 frameshift length = 43 frameshifted sequence: cgg (R) cct (P) cac (H) cta (L) ctt (L) tcc (S) cgt (R) ggc (G) cga (R) cct (P) gtc (V) tat (Y) cat (H) cgc (R) cgc (R) cct (P) cta (L) tgc (C) ccg (P) ctt (L) cac (H) cgc (R) cca (P) gat (D) ccg (P) agg (R) cgc (R) cgt (R) cga (R) cct (P) gtc (V) cct (P) cta (L) tcc (S) tcg (S) aga (R) agg (R) ggg (G) tgt (C) ctc (L) cag (Q) ccg (P) tga (TER) wild type sequence in deletion region: ccc (P) agc (S) ccc (P) gcc (A) ccc (P) gac (D) ccg (P) cct (P) ggc (G) wt frameshift deln region length = 9 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 43 65 P 107 * 43 parathyroid MEN1 1 c.199_202delCCCG p.A68fs*50 length of cdnaseq = 1833 length of protseq = 610 199 202 CCCG 4 67 1 68 1 cccg Total no. of codons in cdna seq = 611 ccc gcc prev c start c-c end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1829 ter codon is tga at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 610 last codon in array is ga cag (Q) ccc (P) agc (S) ccc (P) gcc (A) ccc (P) gac (D) ccg (P) cct (P) cag (Q) ccc (P) agc (S) ccc (P) ccg (P) acc (T) cgc (R) original frameshift length = 51 frameshift length = 51 frameshifted sequence: ccc (P) ccg (P) acc (T) cgc (R) ctg (L) gcg (A) gcc (A) tca (S) cct (P) act (T) ttc (F) ccg (P) tgg (W) ccg (P) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: ccc (P) gcc (A) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ccc (P) ccc (P) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 50 68 A 117 * 50 parathyroid MEN1 1 c.221_221delG p.G74fs*45 length of cdnaseq = 1833 length of protseq = 610 221 221 G 1 74 2 74 2 g Total no. of codons in cdna seq = 611 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 611 last codon in array is ga ccg (P) cct (P) ggc (G) ggc (G) ggc (G) ctc (L) acc (T) tac (Y) ttt (F) ccg (P) cct (P) ggc (G) gcc (A) tca (S) cct (P) act (T) original frameshift length = 45 frameshift length = 45 frameshifted sequence: gcc (A) tca (S) cct (P) act (T) ttc (F) ccg (P) tgg (W) ccg (P) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 45 74 G 118 * 45 parathyroid MEN1 1 c.242_242delC p.D82fs*37 length of cdnaseq = 1833 length of protseq = 610 242 242 C 1 81 2 81 2 c Total no. of codons in cdna seq = 611 gcc gcc start g-c end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 611 last codon in array is ga ttt (F) ccc (P) gtg (V) gcc (A) gcc (A) gac (D) ctg (L) tct (S) atc (I) ttt (F) ccc (P) gtg (V) gcg (A) acc (T) tgt (C) cta (L) original frameshift length = 38 frameshift length = 38 frameshifted sequence: gcg (A) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gcg (A) first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 37 82 D 118 * 37 parathyroid MEN1 1 c.258_261delCGCC p.I86fs*32 length of cdnaseq = 1833 length of protseq = 610 258 261 CGCC 4 86 3 87 3 cgcc Total no. of codons in cdna seq = 611 atc gcc start t-c post g end c-g at- --- frameshift deletion length of cdnaseq after deletion = 1829 ter codon is tga at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 610 last codon in array is ga ctg (L) tct (S) atc (I) atc (I) gcc (A) gcc (A) ctc (L) tat (Y) gcc (A) ctg (L) tct (S) atc (I) atg (M) ccc (P) tct (S) atg (M) original frameshift length = 32 frameshift length = 32 frameshifted sequence: atg (M) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: atc (I) gcc (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 32 86 I 117 * 32 parathyroid MEN1 1 c.291_292delCC p.I97fs*19 length of cdnaseq = 1833 length of protseq = 610 291 292 CC 2 97 3 98 1 cc Total no. of codons in cdna seq = 611 atc cga start t-c end c-g at- -ga frameshift deletion length of cdnaseq after deletion = 1831 ter codon is tga at posn 115 Protein length after deletion = 114 Total no. of codons in del cdnaseq = 611 last codon in array is a acc (T) gcc (A) cag (Q) atc (I) cga (R) ggc (G) gcc (A) gtc (V) gac (D) acc (T) gcc (A) cag (Q) atg (M) agg (R) cgc (R) cgt (R) original frameshift length = 19 frameshift length = 19 frameshifted sequence: atg (M) agg (R) cgc (R) cgt (R) cga (R) cct (P) gtc (V) cct (P) cta (L) tcc (S) tcg (S) aga (R) agg (R) ggg (G) tgt (C) ctc (L) cag (Q) ccg (P) tga (TER) wild type sequence in deletion region: atc (I) cga (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 19 97 I 115 * 19 parathyroid MEN1 1 c.292_292delC p.R98fs*21 length of cdnaseq = 1833 length of protseq = 610 292 292 C 1 98 1 98 1 c Total no. of codons in cdna seq = 611 cga cga prev c start c-c end c-g --- -ga frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 611 last codon in array is ga gcc (A) cag (Q) atc (I) cga (R) cga (R) ggc (G) gcc (A) gtc (V) gac (D) gcc (A) cag (Q) atc (I) gag (E) gcg (A) ccg (P) tcg (S) original frameshift length = 21 frameshift length = 21 frameshifted sequence: gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: cga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 21 98 R 118 * 21 parathyroid MEN1 1 c.342_342delC p.R115fs*4 length of cdnaseq = 1833 length of protseq = 610 342 342 C 1 114 3 114 3 c Total no. of codons in cdna seq = 611 agc agc start g-c post c end c-c ag- --- frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 611 last codon in array is ga ggt (G) gtc (V) tcc (S) agc (S) agc (S) cgt (R) gag (E) ctg (L) gtg (V) ggt (G) gtc (V) tcc (S) agc (S) gtg (V) agc (S) tgg (W) original frameshift length = 5 frameshift length = 5 frameshifted sequence: agc (S) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agc (S) agc (S) first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 4 115 R 118 * 4 parathyroid MEN1 1 c.372_393del22 p.I125fs*53 length of cdnaseq = 1833 length of protseq = 610 372 393 22 22 124 3 131 3 catatggaacagcctcagccgc Total no. of codons in cdna seq = 611 gtc cgc start t-c post t end c-t gt- --- frameshift deletion length of cdnaseq after deletion = 1811 ter codon is tag at posn 177 Protein length after deletion = 176 Total no. of codons in del cdnaseq = 604 last codon in array is ga gtc (V) tcc (S) gat (D) gtc (V) cgc (R) tcc (S) tac (Y) ttc (F) aag (K) gtc (V) tcc (S) gat (D) gtt (V) cct (P) act (T) tca (S) original frameshift length = 54 frameshift length = 54 frameshifted sequence: gtt (V) cct (P) act (T) tca (S) agg (R) atc (I) ggg (G) ccc (P) aca (T) tcc (S) agt (S) ccc (P) tct (S) tca (S) gct (A) tca (S) tca (S) cag (Q) gca (A) cca (P) aat (N) tgg (W) aca (T) gct (A) ccg (P) gtg (V) tgg (W) cct (P) ttg (L) ctg (L) tgg (W) ttg (L) ggg (G) cct (P) gcc (A) agg (R) ccc (P) tgg (W) gtc (V) tcc (S) ggg (G) atg (M) tcc (S) acc (T) tcg (S) ccc (P) tgt (C) ctg (L) agg (R) atc (I) atg (M) cct (P) ggg (G) tag (TER) wild type sequence in deletion region: gtc (V) ata (I) tgg (W) aac (N) agc (S) ctc (L) agc (S) cgc (R) wt frameshift deln region length = 8 matching aa in delstart region of wt and deletion mutant: gtc (V) gtt (V) first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 53 125 I 177 * 53 parathyroid MEN1 1 c.39_39delG p.R14fs*105 length of cdnaseq = 1833 length of protseq = 610 39 39 G 1 13 3 13 3 g Total no. of codons in cdna seq = 611 ctg ctg start t-g post c end g-c ct- --- frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 611 last codon in array is ga ctg (L) ttc (F) ccg (P) ctg (L) ctg (L) cgc (R) tcc (S) atc (I) gac (D) ctg (L) ttc (F) ccg (P) ctc (L) gct (A) cca (P) tcg (S) original frameshift length = 106 frameshift length = 106 frameshifted sequence: ctc (L) gct (A) cca (P) tcg (S) acg (T) acg (T) tgg (W) tgc (C) gcc (A) tgt (C) ttg (L) ctg (L) ccg (P) agc (S) tgg (W) gcc (A) gag (E) agg (R) agc (S) cgg (R) acc (T) tgg (W) tgc (C) tcc (S) ttt (F) cct (P) tgg (W) tgc (C) tgg (W) gct (A) tcg (S) tgg (W) agc (S) att (I) ttc (F) tgg (W) ctg (L) tca (S) acc (T) gcg (A) tca (S) tcc (S) cta (L) cca (P) acg (T) ttc (F) ccg (P) agc (S) tca (S) cct (P) tcc (S) agc (S) cca (P) gcc (A) ccg (P) ccc (P) ccg (P) acc (T) cgc (R) ctg (L) gcg (A) gcc (A) tca (S) cct (P) act (T) ttc (F) ccg (P) tgg (W) ccg (P) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctg (L) ctc (L) first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 105 14 R 118 * 105 parathyroid MEN1 1 c.405_405delG p.D136fs*49 length of cdnaseq = 1833 length of protseq = 610 405 405 G 1 135 3 135 3 g Total no. of codons in cdna seq = 611 aag aag start a-g post g end g-g aa- --- frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 184 Protein length after deletion = 183 Total no. of codons in del cdnaseq = 611 last codon in array is ga tcc (S) tac (Y) ttc (F) aag (K) aag (K) gat (D) cgg (R) gcc (A) cac (H) tcc (S) tac (Y) ttc (F) aag (K) atc (I) ggg (G) ccc (P) original frameshift length = 50 frameshift length = 50 frameshifted sequence: aag (K) atc (I) ggg (G) ccc (P) aca (T) tcc (S) agt (S) ccc (P) tct (S) tca (S) gct (A) tca (S) tca (S) cag (Q) gca (A) cca (P) aat (N) tgg (W) aca (T) gct (A) ccg (P) gtg (V) tgg (W) cct (P) ttg (L) ctg (L) tgg (W) ttg (L) ggg (G) cct (P) gcc (A) agg (R) ccc (P) tgg (W) gtc (V) tcc (S) ggg (G) atg (M) tcc (S) acc (T) tcg (S) ccc (P) tgt (C) ctg (L) agg (R) atc (I) atg (M) cct (P) ggg (G) tag (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aag (K) aag (K) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 49 136 D 184 * 49 parathyroid MEN1 1 c.437_437delT p.F146fs*39 length of cdnaseq = 1833 length of protseq = 610 437 437 T 1 146 2 146 2 t Total no. of codons in cdna seq = 611 ttc ttc start t-t end t-c t-- --c frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 184 Protein length after deletion = 183 Total no. of codons in del cdnaseq = 611 last codon in array is ga ctc (L) ttc (F) agc (S) ttc (F) ttc (F) atc (I) aca (T) ggc (G) acc (T) ctc (L) ttc (F) agc (S) tca (S) tca (S) cag (Q) gca (A) original frameshift length = 39 frameshift length = 39 frameshifted sequence: tca (S) tca (S) cag (Q) gca (A) cca (P) aat (N) tgg (W) aca (T) gct (A) ccg (P) gtg (V) tgg (W) cct (P) ttg (L) ctg (L) tgg (W) ttg (L) ggg (G) cct (P) gcc (A) agg (R) ccc (P) tgg (W) gtc (V) tcc (S) ggg (G) atg (M) tcc (S) acc (T) tcg (S) ccc (P) tgt (C) ctg (L) agg (R) atc (I) atg (M) cct (P) ggg (G) tag (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 39 146 F 184 * 39 parathyroid MEN1 1 c.44_59del16 p.S15fs*99 length of cdnaseq = 1833 length of protseq = 610 44 59 16 16 15 2 20 2 ccatcgacgacgtggt Total no. of codons in cdna seq = 611 tcc gtg start t-c end t-g t-- --g frameshift deletion length of cdnaseq after deletion = 1817 ter codon is tga at posn 113 Protein length after deletion = 112 Total no. of codons in del cdnaseq = 606 last codon in array is ga ccg (P) ctg (L) cgc (R) tcc (S) gtg (V) cgc (R) ctg (L) ttt (F) gct (A) ccg (P) ctg (L) cgc (R) tgc (C) gcc (A) tgt (C) ttg (L) original frameshift length = 99 frameshift length = 99 frameshifted sequence: tgc (C) gcc (A) tgt (C) ttg (L) ctg (L) ccg (P) agc (S) tgg (W) gcc (A) gag (E) agg (R) agc (S) cgg (R) acc (T) tgg (W) tgc (C) tcc (S) ttt (F) cct (P) tgg (W) tgc (C) tgg (W) gct (A) tcg (S) tgg (W) agc (S) att (I) ttc (F) tgg (W) ctg (L) tca (S) acc (T) gcg (A) tca (S) tcc (S) cta (L) cca (P) acg (T) ttc (F) ccg (P) agc (S) tca (S) cct (P) tcc (S) agc (S) cca (P) gcc (A) ccg (P) ccc (P) ccg (P) acc (T) cgc (R) ctg (L) gcg (A) gcc (A) tca (S) cct (P) act (T) ttc (F) ccg (P) tgg (W) ccg (P) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: tcc (S) atc (I) gac (D) gac (D) gtg (V) gtg (V) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 99 15 S 113 * 99 parathyroid MEN1 1 c.671_675delAAGGA p.K224fs*6 length of cdnaseq = 1833 length of protseq = 610 671 675 AAGGA 5 224 2 225 3 aagga Total no. of codons in cdna seq = 611 aaa gga start a-a post t end a-t a-- --- frameshift deletion length of cdnaseq after deletion = 1828 ter codon is tga at posn 229 Protein length after deletion = 228 Total no. of codons in del cdnaseq = 610 last codon in array is a ctg (L) tac (Y) ctg (L) aaa (K) gga (G) tca (S) tac (Y) atg (M) cgc (R) ctg (L) tac (Y) ctg (L) atc (I) ata (I) cat (H) gcg (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: atc (I) ata (I) cat (H) gcg (A) ctg (L) tga (TER) wild type sequence in deletion region: aaa (K) gga (G) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 6 224 K 229 * 6 parathyroid MEN1 1 c.754_761delGACTCGCT p.D252fs*15 length of cdnaseq = 1833 length of protseq = 610 754 761 GACTCGCT 8 252 1 254 2 gactcgct Total no. of codons in cdna seq = 611 gac ctg prev c start c-g end t-g --- --g frameshift deletion length of cdnaseq after deletion = 1825 ter codon is tga at posn 266 Protein length after deletion = 265 Total no. of codons in del cdnaseq = 609 last codon in array is a ctg (L) cac (H) acc (T) gac (D) ctg (L) gag (E) ctt (L) ctg (L) cag (Q) ctg (L) cac (H) acc (T) gga (G) gct (A) tct (S) gca (A) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gga (G) gct (A) tct (S) gca (A) gct (A) gca (A) gca (A) gaa (E) gct (A) gct (A) ctg (L) gct (A) gct (A) cta (L) tga (TER) wild type sequence in deletion region: gac (D) tcg (S) ctg (L) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 15 252 D 266 * 15 parathyroid MEN1 1 c.802_803delTA p.Y268fs*1 length of cdnaseq = 1833 length of protseq = 610 802 803 TA 2 268 1 268 2 ta Total no. of codons in cdna seq = 611 tat tat prev c start c-t end a-t --- --t frameshift deletion length of cdnaseq after deletion = 1831 ter codon is tga at posn 268 Protein length after deletion = 267 Total no. of codons in del cdnaseq = 611 last codon in array is a tgg (W) ctg (L) ctc (L) tat (Y) tat (Y) gac (D) ctg (L) gga (G) cat (H) tgg (W) ctg (L) ctc (L) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 268 Y 268 * 1 pituitary MEN1 1 c.268_268delT p.Y90fs*29 length of cdnaseq = 1833 length of protseq = 610 268 268 T 1 90 1 90 1 t Total no. of codons in cdna seq = 611 tat tat prev c start c-t end t-a --- -at frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 611 last codon in array is ga gcc (A) gcc (A) ctc (L) tat (Y) tat (Y) gcc (A) cgc (R) ttc (F) acc (T) gcc (A) gcc (A) ctc (L) atg (M) ccc (P) gct (A) tca (S) original frameshift length = 29 frameshift length = 29 frameshifted sequence: atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 29 90 Y 118 * 29 small_intestine MEN1 1 c.1033_1033delG p.A345fs*23 length of cdnaseq = 1833 length of protseq = 610 1033 1033 G 1 345 1 345 1 g Total no. of codons in cdna seq = 611 gcc gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tag at posn 367 Protein length after deletion = 366 Total no. of codons in del cdnaseq = 611 last codon in array is ga gcg (A) gac (D) acg (T) gcc (A) gcc (A) act (T) gtc (V) atc (I) cag (Q) gcg (A) gac (D) acg (T) cca (P) ctg (L) tca (S) tcc (S) original frameshift length = 23 frameshift length = 23 frameshifted sequence: cca (P) ctg (L) tca (S) tcc (S) agg (R) act (T) aca (T) act (T) act (T) gcc (A) ggg (G) aag (K) acg (T) agg (R) aga (R) tct (S) aca (T) agg (R) agt (S) tct (S) ttg (L) aag (K) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 23 345 A 367 * 23 small_intestine MEN1 1 c.247_250delCTGT p.I85fs*33 length of cdnaseq = 1833 length of protseq = 610 247 250 CTGT 4 83 1 84 1 ctgt Total no. of codons in cdna seq = 611 ctg tct prev c start c-c end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 1829 ter codon is tga at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 610 last codon in array is ga gtg (V) gcc (A) gac (D) ctg (L) tct (S) atc (I) atc (I) gcc (A) gcc (A) gtg (V) gcc (A) gac (D) cta (L) tca (S) tcg (S) ccg (P) original frameshift length = 35 frameshift length = 35 frameshifted sequence: cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: ctg (L) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctg (L) cta (L) matching aa in delstart region of wt and deletion mutant: tct (S) tca (S) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 33 85 I 117 * 33 soft_tissue MEN1 1 c.51_51delC p.D17fs*102 length of cdnaseq = 1833 length of protseq = 610 51 51 C 1 17 3 17 3 c Total no. of codons in cdna seq = 611 gac gac start a-c post g end c-g ga- --- frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 611 last codon in array is ga cgc (R) tcc (S) atc (I) gac (D) gac (D) gac (D) gtg (V) gtg (V) cgc (R) cgc (R) tcc (S) atc (I) gag (E) acg (T) tgg (W) tgc (C) original frameshift length = 102 frameshift length = 102 frameshifted sequence: gag (E) acg (T) tgg (W) tgc (C) gcc (A) tgt (C) ttg (L) ctg (L) ccg (P) agc (S) tgg (W) gcc (A) gag (E) agg (R) agc (S) cgg (R) acc (T) tgg (W) tgc (C) tcc (S) ttt (F) cct (P) tgg (W) tgc (C) tgg (W) gct (A) tcg (S) tgg (W) agc (S) att (I) ttc (F) tgg (W) ctg (L) tca (S) acc (T) gcg (A) tca (S) tcc (S) cta (L) cca (P) acg (T) ttc (F) ccg (P) agc (S) tca (S) cct (P) tcc (S) agc (S) cca (P) gcc (A) ccg (P) ccc (P) ccg (P) acc (T) cgc (R) ctg (L) gcg (A) gcc (A) tca (S) cct (P) act (T) ttc (F) ccg (P) tgg (W) ccg (P) acc (T) tgt (C) cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 102 17 D 118 * 102 stomach MEN1 1 c.247_250delCTGT p.I85fs*33 length of cdnaseq = 1833 length of protseq = 610 247 250 CTGT 4 83 1 84 1 ctgt Total no. of codons in cdna seq = 611 ctg tct prev c start c-c end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 1829 ter codon is tga at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 610 last codon in array is ga gtg (V) gcc (A) gac (D) ctg (L) tct (S) atc (I) atc (I) gcc (A) gcc (A) gtg (V) gcc (A) gac (D) cta (L) tca (S) tcg (S) ccg (P) original frameshift length = 35 frameshift length = 35 frameshifted sequence: cta (L) tca (S) tcg (S) ccg (P) ccc (P) tct (S) atg (M) ccc (P) gct (A) tca (S) ccg (P) ccc (P) aga (R) tcc (S) gag (E) gcg (A) ccg (P) tcg (S) acc (T) tgt (C) ccc (P) tct (S) atc (I) ctc (L) gag (E) aag (K) ggg (G) gtg (V) tct (S) cca (P) gcc (A) gtg (V) agc (S) tgg (W) tga (TER) wild type sequence in deletion region: ctg (L) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctg (L) cta (L) matching aa in delstart region of wt and deletion mutant: tct (S) tca (S) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 33 85 I 117 * 33 thymus MEN1 1 c.1318_1319delCT p.L440fs*8 length of cdnaseq = 1833 length of protseq = 610 1318 1319 CT 2 440 1 440 2 ct Total no. of codons in cdna seq = 611 ctt ctt prev t start t-c end t-t --- --t frameshift deletion length of cdnaseq after deletion = 1831 ter codon is tga at posn 447 Protein length after deletion = 446 Total no. of codons in del cdnaseq = 611 last codon in array is a gcc (A) acc (T) ttt (F) ctt (L) ctt (L) gtg (V) cag (Q) tcc (S) cta (L) gcc (A) acc (T) ttt (F) tgt (C) gca (A) gtc (V) cct (P) original frameshift length = 8 frameshift length = 8 frameshifted sequence: tgt (C) gca (A) gtc (V) cct (P) agg (R) ccg (P) ttt (F) tga (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 8 440 L 447 * 8 NS MEN1 2 c.373_374delAT p.I125fs*54 length of cdnaseq = 1833 length of protseq = 610 373 374 AT 2 125 1 125 2 at Total no. of codons in cdna seq = 611 ata ata prev c start c-a end t-a --- --a frameshift deletion length of cdnaseq after deletion = 1831 ter codon is tga at posn 178 Protein length after deletion = 177 Total no. of codons in del cdnaseq = 611 last codon in array is a tcc (S) gat (D) gtc (V) ata (I) ata (I) tgg (W) aac (N) agc (S) ctc (L) tcc (S) gat (D) gtc (V) atg (M) gaa (E) cag (Q) cct (P) original frameshift length = 54 frameshift length = 54 frameshifted sequence: atg (M) gaa (E) cag (Q) cct (P) cag (Q) ccg (P) ctc (L) cta (L) ctt (L) caa (Q) gga (G) tcg (S) ggc (G) cca (P) cat (H) cca (P) gtc (V) cct (P) ctt (L) cag (Q) ctt (L) cat (H) cac (H) agg (R) cac (H) caa (Q) att (I) gga (G) cag (Q) ctc (L) cgg (R) tgt (C) ggc (G) ctt (L) tgc (C) tgt (C) ggt (G) tgg (W) ggc (G) ctg (L) cca (P) ggc (G) cct (P) ggg (G) tct (S) ccg (P) gga (G) tgt (C) cca (P) cct (P) cgc (R) cct (P) gtc (V) tga (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 54 125 I 178 * 54 parathyroid MEN1 2 c.1657_1657delT p.F553fs*6 length of cdnaseq = 1833 length of protseq = 610 1657 1657 T 1 553 1 553 1 t Total no. of codons in cdna seq = 611 ttc ttc prev t start t-t end t-t --- -tc frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 558 Protein length after deletion = 557 Total no. of codons in del cdnaseq = 611 last codon in array is ga gtg (V) ctc (L) act (T) ttc (F) ttc (F) cag (Q) agt (S) gag (E) aag (K) gtg (V) ctc (L) act (T) tcc (S) aga (R) gtg (V) aga (R) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tcc (S) aga (R) gtg (V) aga (R) aga (R) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 6 553 F 558 * 6 small_intestine MEN1 2 c.1102_1108delGCCAATG p.A368fs*7 length of cdnaseq = 1833 length of protseq = 610 1102 1108 GCCAATG 7 368 1 370 1 gccaatg Total no. of codons in cdna seq = 611 gcc gat prev a start a-g end g-a --- -at frameshift deletion length of cdnaseq after deletion = 1826 ter codon is tga at posn 374 Protein length after deletion = 373 Total no. of codons in del cdnaseq = 609 last codon in array is ga ttt (F) gaa (E) gta (V) gcc (A) gat (D) gtc (V) atc (I) ccc (P) aac (N) ttt (F) gaa (E) gta (V) atg (M) tca (S) tcc (S) cca (P) original frameshift length = 7 frameshift length = 7 frameshifted sequence: atg (M) tca (S) tcc (S) cca (P) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: gcc (A) aat (N) gat (D) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 7 368 A 374 * 7 small_intestine MEN1 3 c.620_620delG p.G208fs*16 length of cdnaseq = 1833 length of protseq = 610 620 620 G 1 207 2 207 2 g Total no. of codons in cdna seq = 611 agg agg start a-g end g-g a-- --g frameshift deletion length of cdnaseq after deletion = 1832 ter codon is tga at posn 223 Protein length after deletion = 222 Total no. of codons in del cdnaseq = 611 last codon in array is ga gag (E) gac (D) cgc (R) agg (R) agg (R) ggc (G) cag (Q) aca (T) gtc (V) gag (E) gac (D) cgc (R) agg (R) gcc (A) aga (R) cag (Q) original frameshift length = 17 frameshift length = 17 frameshifted sequence: agg (R) gcc (A) aga (R) cag (Q) tca (S) atg (M) ccg (P) gtg (V) tgg (W) ctg (L) agc (S) gga (G) gct (A) ggc (G) tgt (C) acc (T) tga (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agg (R) agg (R) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 16 208 G 223 * 16 endometrium MLH1 1 c.145_148delGTGA p.V49fs*7 length of cdnaseq = 2271 length of protseq = 756 145 148 GTGA 4 49 1 50 1 gtga Total no. of codons in cdna seq = 757 gtg att prev a start a-g end a-t --- -tt frameshift deletion length of cdnaseq after deletion = 2267 ter codon is tga at posn 55 Protein length after deletion = 54 Total no. of codons in del cdnaseq = 756 last codon in array is aa agt (S) att (I) caa (Q) gtg (V) att (I) gtt (V) aaa (K) gag (E) gga (G) agt (S) att (I) caa (Q) ttg (L) tta (L) aag (K) agg (R) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ttg (L) tta (L) aag (K) agg (R) gag (E) gcc (A) tga (TER) wild type sequence in deletion region: gtg (V) att (I) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 7 49 V 55 * 7 large_intestine MLH1 1 c.129_129delA p.K43fs*7 length of cdnaseq = 2271 length of protseq = 756 129 129 A 1 43 3 43 3 a Total no. of codons in cdna seq = 757 aaa aaa start a-a post t end a-t aa- --- frameshift deletion length of cdnaseq after deletion = 2270 ter codon is tga at posn 49 Protein length after deletion = 48 Total no. of codons in del cdnaseq = 757 last codon in array is aa tta (L) gat (D) gca (A) aaa (K) aaa (K) tcc (S) aca (T) agt (S) att (I) tta (L) gat (D) gca (A) aat (N) cca (P) caa (Q) gta (V) original frameshift length = 7 frameshift length = 7 frameshifted sequence: aat (N) cca (P) caa (Q) gta (V) ttc (F) aag (K) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 7 43 K 49 * 7 large_intestine MLH1 1 c.1497_1497delG p.I500fs*8 length of cdnaseq = 2271 length of protseq = 756 1497 1497 G 1 499 3 499 3 g Total no. of codons in cdna seq = 757 agg agg start g-g post a end g-a ag- --- frameshift deletion length of cdnaseq after deletion = 2270 ter codon is tga at posn 507 Protein length after deletion = 506 Total no. of codons in del cdnaseq = 757 last codon in array is aa ccc (P) cgg (R) aga (R) agg (R) agg (R) atc (I) att (I) aac (N) ctc (L) ccc (P) cgg (R) aga (R) aga (R) tca (S) tta (L) acc (T) original frameshift length = 9 frameshift length = 9 frameshifted sequence: aga (R) tca (S) tta (L) acc (T) tca (S) cta (L) gtg (V) ttt (F) tga (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agg (R) aga (R) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 8 500 I 507 * 8 large_intestine MLH1 1 c.1988_1989delAG p.E663fs*11 length of cdnaseq = 2271 length of protseq = 756 1988 1989 AG 2 663 2 663 3 ag Total no. of codons in cdna seq = 757 gag gag start g-a post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 2269 ter codon is tga at posn 673 Protein length after deletion = 672 Total no. of codons in del cdnaseq = 757 last codon in array is a cta (L) gcc (A) act (T) gag (E) gag (E) gtg (V) aat (N) tgg (W) gac (D) cta (L) gcc (A) act (T) ggt (G) gaa (E) ttg (L) gga (G) original frameshift length = 11 frameshift length = 11 frameshifted sequence: ggt (G) gaa (E) ttg (L) gga (G) cga (R) aga (R) aaa (K) gga (G) atg (M) ttt (F) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 11 663 E 673 * 11 large_intestine MLH1 1 c.2033_2046del14 p.K678fs*11 length of cdnaseq = 2271 length of protseq = 756 2033 2046 14 14 678 2 682 3 aagaatgcgctatg Total no. of codons in cdna seq = 757 aaa atg start a-a post t end g-t a-- --- frameshift deletion length of cdnaseq after deletion = 2257 ter codon is tga at posn 688 Protein length after deletion = 687 Total no. of codons in del cdnaseq = 753 last codon in array is a agc (S) ctc (L) agt (S) aaa (K) atg (M) ttc (F) tat (Y) tcc (S) atc (I) agc (S) ctc (L) agt (S) att (I) cta (L) ttc (F) cat (H) original frameshift length = 11 frameshift length = 11 frameshifted sequence: att (I) cta (L) ttc (F) cat (H) ccg (P) gaa (E) gca (A) gta (V) cat (H) atc (I) tga (TER) wild type sequence in deletion region: aaa (K) gaa (E) tgc (C) gct (A) atg (M) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 11 678 K 688 * 11 large_intestine MLH1 1 c.738_750del13 p.S247fs*3 length of cdnaseq = 2271 length of protseq = 756 738 750 13 13 246 3 250 3 atccaatgcaaac Total no. of codons in cdna seq = 757 ata aac start t-a post t end c-t at- --- frameshift deletion length of cdnaseq after deletion = 2258 ter codon is tga at posn 249 Protein length after deletion = 248 Total no. of codons in del cdnaseq = 753 last codon in array is aa aat (N) ggt (G) tac (Y) ata (I) aac (N) tac (Y) tca (S) gtg (V) aag (K) aat (N) ggt (G) tac (Y) att (I) act (T) cag (Q) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: att (I) act (T) cag (Q) tga (TER) wild type sequence in deletion region: ata (I) tcc (S) aat (N) gca (A) aac (N) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: ata (I) att (I) first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 3 247 S 249 * 3 large_intestine MLH1 1 c.769_769delA p.I257fs*11 length of cdnaseq = 2271 length of protseq = 756 769 769 A 1 257 1 257 1 a Total no. of codons in cdna seq = 757 atc atc prev c start c-a end a-t --- -tc frameshift deletion length of cdnaseq after deletion = 2270 ter codon is tag at posn 267 Protein length after deletion = 266 Total no. of codons in del cdnaseq = 757 last codon in array is aa aag (K) aag (K) tgc (C) atc (I) atc (I) ttc (F) tta (L) ctc (L) ttc (F) aag (K) aag (K) tgc (C) tct (S) tct (S) tac (Y) tct (S) original frameshift length = 11 frameshift length = 11 frameshifted sequence: tct (S) tct (S) tac (Y) tct (S) tca (S) tca (S) acc (T) atc (I) gtc (V) tgg (W) tag (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 11 257 I 267 * 11 large_intestine MLH1 1 c.872_872delT p.F291fs*6 length of cdnaseq = 2271 length of protseq = 756 872 872 T 1 291 2 291 2 t Total no. of codons in cdna seq = 757 ttc ttc start t-t end t-c t-- --c frameshift deletion length of cdnaseq after deletion = 2270 ter codon is tag at posn 296 Protein length after deletion = 295 Total no. of codons in del cdnaseq = 757 last codon in array is aa aca (T) cac (H) cca (P) ttc (F) ttc (F) ctg (L) tac (Y) ctc (L) agt (S) aca (T) cac (H) cca (P) tcc (S) tgt (C) acc (T) tca (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tcc (S) tgt (C) acc (T) tca (S) gtt (V) tag (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 6 291 F 296 * 6 ovary MLH1 1 c.1513delA p.S505fs*3 length of cdnaseq = 2271 length of protseq = 756 1513 1513 A 1 505 1 505 1 a Total no. of codons in cdna seq = 757 agt agt prev t start t-a end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 2270 ter codon is tga at posn 507 Protein length after deletion = 506 Total no. of codons in del cdnaseq = 757 last codon in array is aa aac (N) ctc (L) act (T) agt (S) agt (S) gtt (V) ttg (L) agt (S) ctc (L) aac (N) ctc (L) act (T) gtg (V) ttt (F) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gtg (V) ttt (F) tga (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 505 S 507 * 3 kidney MLL 1 c.1264delA p.I422fs*8 length of cdnaseq = 11910 length of protseq = 3969 1264 1264 A 1 422 1 422 1 a Total no. of codons in cdna seq = 3970 att att prev c start c-a end a-t --- -tt frameshift deletion length of cdnaseq after deletion = 11909 ter codon is tag at posn 429 Protein length after deletion = 428 Total no. of codons in del cdnaseq = 3970 last codon in array is aa tcg (S) cgg (R) atc (I) att (I) att (I) aag (K) acc (T) cct (P) cgg (R) tcg (S) cgg (R) atc (I) tta (L) aga (R) ccc (P) ctc (L) original frameshift length = 8 frameshift length = 8 frameshifted sequence: tta (L) aga (R) ccc (P) ctc (L) ggc (G) ggt (G) tta (L) tag (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 8 422 I 429 * 8 urinary_tract MLL 1 c.7062delC p.S2355fs*18 length of cdnaseq = 11910 length of protseq = 3969 7062 7062 C 1 2354 3 2354 3 c Total no. of codons in cdna seq = 3970 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 11909 ter codon is tga at posn 2372 Protein length after deletion = 2371 Total no. of codons in del cdnaseq = 3970 last codon in array is aa ttt (F) gct (A) gaa (E) ccc (P) ccc (P) tct (S) tca (S) gtg (V) tcg (S) ttt (F) gct (A) gaa (E) cct (P) ctt (L) cag (Q) tgt (C) original frameshift length = 19 frameshift length = 19 frameshifted sequence: cct (P) ctt (L) cag (Q) tgt (C) cgt (R) ttt (F) ctt (L) cta (L) aag (K) agg (R) ccc (P) tct (S) cct (P) tcc (S) cac (H) acc (T) tcc (S) att (I) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 18 2355 S 2372 * 18 cervix MSH2 1 c.2304delA p.E768fs*44 length of cdnaseq = 2805 length of protseq = 934 2304 2304 A 1 768 3 768 3 a Total no. of codons in cdna seq = 935 gaa gaa start a-a post t end a-t ga- --- frameshift deletion length of cdnaseq after deletion = 2804 ter codon is taa at posn 811 Protein length after deletion = 810 Total no. of codons in del cdnaseq = 935 last codon in array is ga gct (A) ata (I) tca (S) gaa (E) gaa (E) tac (Y) att (I) gca (A) aca (T) gct (A) ata (I) tca (S) gat (D) aca (T) ttg (L) caa (Q) original frameshift length = 44 frameshift length = 44 frameshifted sequence: gat (D) aca (T) ttg (L) caa (Q) caa (Q) aga (R) ttg (L) gtg (V) ctt (L) ttt (F) gca (A) tgt (C) ttg (L) caa (Q) ccc (P) att (I) ttc (F) atg (M) aac (N) tta (L) ctg (L) cct (P) tgg (W) cca (P) atc (I) aga (R) tac (Y) caa (Q) ctg (L) tta (L) ata (I) atc (I) tac (Y) atg (M) tca (S) cag (Q) cac (H) tca (S) cca (P) ctg (L) aag (K) aga (R) cct (P) taa (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 44 768 E 811 * 44 endometrium MSH2 1 c.1569_1569delT p.R524fs*2 length of cdnaseq = 2805 length of protseq = 934 1569 1569 T 1 523 3 523 3 t Total no. of codons in cdna seq = 935 ttt ttt start t-t post c end t-c tt- --- frameshift deletion length of cdnaseq after deletion = 2804 ter codon is taa at posn 525 Protein length after deletion = 524 Total no. of codons in del cdnaseq = 935 last codon in array is ga gga (G) tat (Y) tac (Y) ttt (F) ttt (F) cgt (R) gta (V) acc (T) tgt (C) gga (G) tat (Y) tac (Y) ttc (F) gtg (V) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: ttc (F) gtg (V) taa (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttt (F) ttc (F) first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 2 524 R 525 * 2 large_intestine MSH2 1 c.1753_1753delT p.S585fs*5 length of cdnaseq = 2805 length of protseq = 934 1753 1753 T 1 585 1 585 1 t Total no. of codons in cdna seq = 935 tct tct prev t start t-t end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 2804 ter codon is tag at posn 589 Protein length after deletion = 588 Total no. of codons in del cdnaseq = 935 last codon in array is ga gtc (V) aat (N) att (I) tct (S) tct (S) tca (S) ggc (G) tat (Y) gta (V) gtc (V) aat (N) att (I) ctt (L) cag (Q) gct (A) atg (M) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ctt (L) cag (Q) gct (A) atg (M) tag (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 5 585 S 589 * 5 large_intestine MSH2 1 c.2082_2082delT p.F694fs*16 length of cdnaseq = 2805 length of protseq = 934 2082 2082 T 1 694 3 694 3 t Total no. of codons in cdna seq = 935 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 2804 ter codon is tag at posn 709 Protein length after deletion = 708 Total no. of codons in del cdnaseq = 935 last codon in array is ga att (I) ggg (G) tgt (C) ttt (F) ttt (F) gtg (V) cca (P) tgt (C) gag (E) att (I) ggg (G) tgt (C) ttg (L) tgc (C) cat (H) gtg (V) original frameshift length = 16 frameshift length = 16 frameshifted sequence: ttg (L) tgc (C) cat (H) gtg (V) agt (S) cag (Q) cag (Q) aag (K) tgt (C) cca (P) ttg (L) tgg (W) act (T) gca (A) tct (S) tag (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 16 694 F 709 * 16 large_intestine MSH2 1 c.2240_2241delTA p.I747fs*2 length of cdnaseq = 2805 length of protseq = 934 2240 2241 TA 2 747 2 747 3 ta Total no. of codons in cdna seq = 935 ata ata start a-t post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 2803 ter codon is tga at posn 748 Protein length after deletion = 747 Total no. of codons in del cdnaseq = 935 last codon in array is a tta (L) ata (I) atc (I) ata (I) ata (I) gat (D) gaa (E) ttg (L) gga (G) tta (L) ata (I) atc (I) aga (R) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aga (R) tga (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 2 747 I 748 * 2 large_intestine MSH2 1 c.934_934delC p.L312fs*19 length of cdnaseq = 2805 length of protseq = 934 934 934 C 1 312 1 312 1 c Total no. of codons in cdna seq = 935 ctt ctt prev c start c-c end c-t --- -tt frameshift deletion length of cdnaseq after deletion = 2804 ter codon is tga at posn 330 Protein length after deletion = 329 Total no. of codons in del cdnaseq = 935 last codon in array is ga gcc (A) ctt (L) aac (N) ctt (L) ctt (L) ttt (F) cag (Q) ggt (G) tct (S) gcc (A) ctt (L) aac (N) ttt (F) ttc (F) agg (R) gtt (V) original frameshift length = 19 frameshift length = 19 frameshifted sequence: ttt (F) ttc (F) agg (R) gtt (V) ctg (L) ttg (L) aag (K) ata (I) cca (P) ctg (L) gct (A) ctc (L) agt (S) ctc (L) tgg (W) ctg (L) cct (P) tgc (C) tga (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 19 312 L 330 * 19 ovary MSH2 1 c.387_388delTC p.Q130fs*2 length of cdnaseq = 2805 length of protseq = 934 387 388 TC 2 129 3 130 1 tc Total no. of codons in cdna seq = 935 tct cag start c-t end c-a tc- -ag frameshift deletion length of cdnaseq after deletion = 2803 ter codon is tga at posn 131 Protein length after deletion = 130 Total no. of codons in del cdnaseq = 935 last codon in array is a ggc (G) aat (N) ctc (L) tct (S) cag (Q) ttt (F) gaa (E) gac (D) att (I) ggc (G) aat (N) ctc (L) tca (S) gtt (V) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tca (S) gtt (V) tga (TER) wild type sequence in deletion region: tct (S) cag (Q) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tct (S) tca (S) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 2 130 Q 131 * 2 small_intestine MSH2 1 c.687_687delA p.A230fs*16 length of cdnaseq = 2805 length of protseq = 934 687 687 A 1 229 3 229 3 a Total no. of codons in cdna seq = 935 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 2804 ter codon is tga at posn 245 Protein length after deletion = 244 Total no. of codons in del cdnaseq = 935 last codon in array is ga gaa (E) aga (R) aaa (K) aaa (K) aaa (K) gct (A) gac (D) ttt (F) tcc (S) gaa (E) aga (R) aaa (K) aag (K) ctg (L) act (T) ttt (F) original frameshift length = 17 frameshift length = 17 frameshifted sequence: aag (K) ctg (L) act (T) ttt (F) cca (P) caa (Q) aag (K) aca (T) ttt (F) atc (I) agg (R) acc (T) tca (S) acc (T) ggt (G) tgt (C) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 16 230 A 245 * 16 endometrium MSH2 2 c.2359_2360delCT p.L787fs*11 length of cdnaseq = 2805 length of protseq = 934 2359 2360 CT 2 787 1 787 2 ct Total no. of codons in cdna seq = 935 ctt ctt prev a start a-c end t-t --- --t frameshift deletion length of cdnaseq after deletion = 2803 ter codon is taa at posn 797 Protein length after deletion = 796 Total no. of codons in del cdnaseq = 935 last codon in array is a ttt (F) cat (H) gaa (E) ctt (L) ctt (L) act (T) gcc (A) ttg (L) gcc (A) ttt (F) cat (H) gaa (E) tac (Y) tgc (C) ctt (L) ggc (G) original frameshift length = 11 frameshift length = 11 frameshifted sequence: tac (Y) tgc (C) ctt (L) ggc (G) caa (Q) tca (S) gat (D) acc (T) aac (N) tgt (C) taa (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 11 787 L 797 * 11 central_nervous_system MSH6 1 c.2425delG p.V809fs*1 length of cdnaseq = 4083 length of protseq = 1360 2425 2425 G 1 809 1 809 1 g Total no. of codons in cdna seq = 1361 gta gta prev t start t-g end g-t --- -ta frameshift deletion length of cdnaseq after deletion = 4082 ter codon is tag at posn 809 Protein length after deletion = 808 Total no. of codons in del cdnaseq = 1361 last codon in array is ag tcc (S) gaa (E) gtt (V) gta (V) gta (V) gag (E) ctt (L) cta (L) aag (K) tcc (S) gaa (E) gtt (V) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 809 V 809 * 1 large_intestine MSH6 1 c.868delC p.L290fs*1 length of cdnaseq = 4083 length of protseq = 1360 868 868 C 1 290 1 290 1 c Total no. of codons in cdna seq = 1361 ctg ctg prev c start c-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 4082 ter codon is tga at posn 290 Protein length after deletion = 289 Total no. of codons in del cdnaseq = 1361 last codon in array is ag agt (S) gaa (E) ggc (G) ctg (L) ctg (L) aac (N) agc (S) cct (P) gtc (V) agt (S) gaa (E) ggc (G) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 1 290 L 290 * 1 ovary MSH6 1 c.3261delC p.P1087fs*3 length of cdnaseq = 4083 length of protseq = 1360 3261 3261 C 1 1087 3 1087 3 c Total no. of codons in cdna seq = 1361 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 4082 ter codon is tag at posn 1089 Protein length after deletion = 1088 Total no. of codons in del cdnaseq = 1361 last codon in array is ag gat (D) acc (T) ccc (P) ccc (P) ccc (P) ttc (F) tta (L) gag (E) ctt (L) gat (D) acc (T) ccc (P) cct (P) tct (S) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cct (P) tct (S) tag (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 2 1087 P 1089 * 3 F P 1 ovary MSH6 c.3261delC p.P1087fs*3 thyroid MSH6 1 c.3136delG p.D1046fs*6 length of cdnaseq = 4083 length of protseq = 1360 3136 3136 G 1 1046 1 1046 1 g Total no. of codons in cdna seq = 1361 gac gac prev g start g-g end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 4082 ter codon is tag at posn 1051 Protein length after deletion = 1050 Total no. of codons in del cdnaseq = 1361 last codon in array is ag aat (N) tac (Y) aag (K) gac (D) gac (D) tgg (W) cag (Q) tct (S) gct (A) aat (N) tac (Y) aag (K) act (T) ggc (G) agt (S) ctg (L) original frameshift length = 6 frameshift length = 6 frameshifted sequence: act (T) ggc (G) agt (S) ctg (L) ctg (L) tag (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 6 1046 D 1051 * 6 haematopoietic_and_lymphoid_tissue MSH6 2 c.3261delC p.P1087fs*3 length of cdnaseq = 4083 length of protseq = 1360 3261 3261 C 1 1087 3 1087 3 c Total no. of codons in cdna seq = 1361 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 4082 ter codon is tag at posn 1089 Protein length after deletion = 1088 Total no. of codons in del cdnaseq = 1361 last codon in array is ag gat (D) acc (T) ccc (P) ccc (P) ccc (P) ttc (F) tta (L) gag (E) ctt (L) gat (D) acc (T) ccc (P) cct (P) tct (S) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cct (P) tct (S) tag (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 2 1087 P 1089 * 3 F P 2 haematopoietic_and_lymphoid_tissue MSH6 c.3261delC p.P1087fs*3 large_intestine MSH6 32 c.3261delC p.P1087fs*3 length of cdnaseq = 4083 length of protseq = 1360 3261 3261 C 1 1087 3 1087 3 c Total no. of codons in cdna seq = 1361 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 4082 ter codon is tag at posn 1089 Protein length after deletion = 1088 Total no. of codons in del cdnaseq = 1361 last codon in array is ag gat (D) acc (T) ccc (P) ccc (P) ccc (P) ttc (F) tta (L) gag (E) ctt (L) gat (D) acc (T) ccc (P) cct (P) tct (S) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cct (P) tct (S) tag (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 2 1087 P 1089 * 3 F P 32 large_intestine MSH6 c.3261delC p.P1087fs*3 stomach MSH6 3 c.741_741delA p.K247fs*32 length of cdnaseq = 4083 length of protseq = 1360 741 741 A 1 247 3 247 3 a Total no. of codons in cdna seq = 1361 aaa aaa start a-a post c end a-c aa- --- frameshift deletion length of cdnaseq after deletion = 4082 ter codon is taa at posn 278 Protein length after deletion = 277 Total no. of codons in del cdnaseq = 1361 last codon in array is ag caa (Q) ata (I) aaa (K) aaa (K) aaa (K) cga (R) agg (R) gtc (V) ata (I) caa (Q) ata (I) aaa (K) aac (N) gaa (E) ggg (G) tca (S) original frameshift length = 32 frameshift length = 32 frameshifted sequence: aac (N) gaa (E) ggg (G) tca (S) tat (Y) cag (Q) att (I) ctg (L) aga (R) gtg (V) aca (T) ttg (L) gtg (V) gct (A) ctg (L) atg (M) tgg (W) aat (N) tta (L) agc (S) cag (Q) aca (T) cta (L) agg (R) agg (R) aag (K) gaa (E) gca (A) gtg (V) atg (M) aaa (K) taa (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 32 247 K 278 * 32 stomach MSH6 7 c.3261delC p.P1087fs*3 length of cdnaseq = 4083 length of protseq = 1360 3261 3261 C 1 1087 3 1087 3 c Total no. of codons in cdna seq = 1361 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 4082 ter codon is tag at posn 1089 Protein length after deletion = 1088 Total no. of codons in del cdnaseq = 1361 last codon in array is ag gat (D) acc (T) ccc (P) ccc (P) ccc (P) ttc (F) tta (L) gag (E) ctt (L) gat (D) acc (T) ccc (P) cct (P) tct (S) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cct (P) tct (S) tag (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 2 1087 P 1089 * 3 F P 7 stomach MSH6 c.3261delC p.P1087fs*3 endometrium MSH6 9 c.3261delC p.P1087fs*3 length of cdnaseq = 4083 length of protseq = 1360 3261 3261 C 1 1087 3 1087 3 c Total no. of codons in cdna seq = 1361 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 4082 ter codon is tag at posn 1089 Protein length after deletion = 1088 Total no. of codons in del cdnaseq = 1361 last codon in array is ag gat (D) acc (T) ccc (P) ccc (P) ccc (P) ttc (F) tta (L) gag (E) ctt (L) gat (D) acc (T) ccc (P) cct (P) tct (S) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cct (P) tct (S) tag (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 2 1087 P 1089 * 3 F P 9 endometrium MSH6 c.3261delC p.P1087fs*3 kidney NBN 1 c.2192delA p.N731fs*20 length of cdnaseq = 2265 length of protseq = 754 2192 2192 A 1 731 2 731 2 a Total no. of codons in cdna seq = 755 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 2264 ter codon is taa at posn 750 Protein length after deletion = 749 Total no. of codons in del cdnaseq = 755 last codon in array is aa gag (E) gta (V) caa (Q) aat (N) aat (N) caa (Q) cat (H) gca (A) aaa (K) gag (E) gta (V) caa (Q) atc (I) aac (N) atg (M) caa (Q) original frameshift length = 20 frameshift length = 20 frameshifted sequence: atc (I) aac (N) atg (M) caa (Q) aag (K) aag (K) agt (S) ctc (L) ttg (L) ctg (L) atg (M) atc (I) ttt (F) tta (L) gat (D) aca (T) atc (I) ctt (L) att (I) taa (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 20 731 N 750 * 20 breast NF1 1 c.8253_8268del16 p.S2751fs*27 length of cdnaseq = 8520 length of protseq = 2839 8253 8268 16 16 2751 3 2756 3 tgaagaatccctcctg Total no. of codons in cdna seq = 2840 agt ctg start g-t post a end g-a ag- --- frameshift deletion length of cdnaseq after deletion = 8504 ter codon is tga at posn 2777 Protein length after deletion = 2776 Total no. of codons in del cdnaseq = 2835 last codon in array is ga gaa (E) gaa (E) acc (T) agt (S) ctg (L) act (T) ccc (P) aca (T) tct (S) gaa (E) gaa (E) acc (T) aga (R) ctc (L) cca (P) cat (H) original frameshift length = 27 frameshift length = 27 frameshifted sequence: aga (R) ctc (L) cca (P) cat (H) ctc (L) ctt (L) acc (T) ctc (L) ctg (L) cac (H) tgc (C) aga (R) gcc (A) agc (S) tta (L) gta (V) tca (S) ctg (L) cca (P) acc (T) tta (L) acc (T) ttt (F) cta (L) att (I) cca (P) tga (TER) wild type sequence in deletion region: agt (S) gaa (E) gaa (E) tcc (S) ctc (L) ctg (L) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 27 2751 S 2777 * 27 central_nervous_system NF1 1 c.2820_2820delC p.I941fs*13 length of cdnaseq = 8520 length of protseq = 2839 2820 2820 C 1 940 3 940 3 c Total no. of codons in cdna seq = 2840 acc acc start c-c post a end c-a ac- --- frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 953 Protein length after deletion = 952 Total no. of codons in del cdnaseq = 2840 last codon in array is ga ttg (L) aag (K) aat (N) acc (T) acc (T) atc (I) agc (S) aag (K) ttt (F) ttg (L) aag (K) aat (N) aca (T) tca (S) gca (A) agt (S) original frameshift length = 14 frameshift length = 14 frameshifted sequence: aca (T) tca (S) gca (A) agt (S) ttt (F) ttg (L) act (T) ccc (P) aag (K) gac (D) agg (R) ttt (F) tat (Y) tga (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acc (T) aca (T) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 13 941 I 953 * 13 central_nervous_system NF1 1 c.4977_4980delCTCT p.S1660fs*37 length of cdnaseq = 8520 length of protseq = 2839 4977 4980 CTCT 4 1659 3 1660 3 ctct Total no. of codons in cdna seq = 2840 ctc tct start t-c post a end t-a ct- --- frameshift deletion length of cdnaseq after deletion = 8516 ter codon is tga at posn 1696 Protein length after deletion = 1695 Total no. of codons in del cdnaseq = 2839 last codon in array is ga aca (T) gac (D) ttt (F) ctc (L) tct (S) aag (K) tgg (W) ttt (F) gtt (V) aca (T) gac (D) ttt (F) cta (L) agt (S) ggt (G) ttg (L) original frameshift length = 38 frameshift length = 38 frameshifted sequence: cta (L) agt (S) ggt (G) ttg (L) ttg (L) ttt (F) ttc (F) ctg (L) gct (A) ttg (L) ctt (L) acg (T) aca (T) acg (T) tct (S) ccg (P) cag (Q) tct (S) ata (I) tct (S) ata (I) act (T) gta (V) act (T) cct (P) ggg (G) tca (S) ggg (G) agt (S) aca (T) cca (P) agt (S) atc (I) atg (M) agc (S) ggc (G) tgc (C) tga (TER) wild type sequence in deletion region: ctc (L) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctc (L) cta (L) matching aa in delstart region of wt and deletion mutant: tct (S) agt (S) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 36 1660 S 1696 * 37 K S 1 central_nervous_system NF1 c.4977_4980delCTCT p.S1660fs*37 central_nervous_system NF1 1 c.6009delT p.T2004fs*8 length of cdnaseq = 8520 length of protseq = 2839 6009 6009 T 1 2003 3 2003 3 t Total no. of codons in cdna seq = 2840 att att start t-t post a end t-a at- --- frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tag at posn 2011 Protein length after deletion = 2010 Total no. of codons in del cdnaseq = 2840 last codon in array is ga ctt (L) ggg (G) cag (Q) att (I) att (I) aca (T) gat (D) ctg (L) ctt (L) ctt (L) ggg (G) cag (Q) ata (I) cag (Q) atc (I) tgc (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ata (I) cag (Q) atc (I) tgc (C) ttg (L) atg (M) ttg (L) tac (Y) tag (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: att (I) ata (I) first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 8 2004 T 2011 * 8 central_nervous_system NF1 1 c.6906delG p.Q2302fs*17 length of cdnaseq = 8520 length of protseq = 2839 6906 6906 G 1 2302 3 2302 3 g Total no. of codons in cdna seq = 2840 cag cag start a-g post c end g-c ca- --- frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tag at posn 2318 Protein length after deletion = 2317 Total no. of codons in del cdnaseq = 2840 last codon in array is ga acc (T) aaa (K) tta (L) cag (Q) cag (Q) cca (P) ctt (L) ctt (L) aat (N) acc (T) aaa (K) tta (L) cac (H) cac (H) ttc (F) tta (L) original frameshift length = 17 frameshift length = 17 frameshifted sequence: cac (H) cac (H) ttc (F) tta (L) ata (I) agg (R) act (T) cgc (R) ctc (L) tgc (C) aca (T) aag (K) ccc (P) tct (S) ttt (F) ggg (G) tag (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 17 2302 Q 2318 * 17 central_nervous_system NF1 1 c.7012delC p.L2338fs*8 length of cdnaseq = 8520 length of protseq = 2839 7012 7012 C 1 2338 1 2338 1 c Total no. of codons in cdna seq = 2840 ctt ctt prev t start t-c end c-t --- -tt frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tag at posn 2345 Protein length after deletion = 2344 Total no. of codons in del cdnaseq = 2840 last codon in array is ga acc (T) gca (A) ctt (L) ctt (L) ctt (L) gaa (E) caa (Q) aac (N) ctg (L) acc (T) gca (A) ctt (L) ttg (L) aac (N) aaa (K) acc (T) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ttg (L) aac (N) aaa (K) acc (T) tgc (C) ata (I) ctt (L) tag (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctt (L) ttg (L) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 7 2338 L 2345 * 8 E L 1 central_nervous_system NF1 c.7012delC p.L2338fs*8 central_nervous_system NF1 1 c.7903_7903delG p.D2635fs*9 length of cdnaseq = 8520 length of protseq = 2839 7903 7903 G 1 2635 1 2635 1 g Total no. of codons in cdna seq = 2840 gat gat prev t start t-g end g-a --- -at frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tag at posn 2643 Protein length after deletion = 2642 Total no. of codons in del cdnaseq = 2840 last codon in array is ga gat (D) gag (E) ttt (F) gat (D) gat (D) caa (Q) cga (R) att (I) ctt (L) gat (D) gag (E) ttt (F) atc (I) aac (N) gaa (E) ttc (F) original frameshift length = 9 frameshift length = 9 frameshifted sequence: atc (I) aac (N) gaa (E) ttc (F) ttt (F) atg (M) aat (N) act (T) tag (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 9 2635 D 2643 * 9 large_intestine NF1 1 c.1882_1882delT p.Y628fs*3 length of cdnaseq = 8520 length of protseq = 2839 1882 1882 T 1 628 1 628 1 t Total no. of codons in cdna seq = 2840 tac tac prev t start t-t end t-a --- -ac frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tag at posn 630 Protein length after deletion = 629 Total no. of codons in del cdnaseq = 2840 last codon in array is ga ctc (L) ctt (L) ttt (F) tac (Y) tac (Y) ggg (G) gta (V) gga (G) tgt (C) ctc (L) ctt (L) ttt (F) acg (T) ggg (G) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: acg (T) ggg (G) tag (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 3 628 Y 630 * 3 large_intestine NF1 1 c.2033_2033delC p.P678fs*10 length of cdnaseq = 8520 length of protseq = 2839 2033 2033 C 1 678 2 678 2 c Total no. of codons in cdna seq = 2840 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tag at posn 687 Protein length after deletion = 686 Total no. of codons in del cdnaseq = 2840 last codon in array is ga gga (G) acc (T) ccc (P) ccg (P) ccg (P) att (I) tgc (C) cga (R) caa (Q) gga (G) acc (T) ccc (P) cga (R) ttt (F) gcc (A) gac (D) original frameshift length = 10 frameshift length = 10 frameshifted sequence: cga (R) ttt (F) gcc (A) gac (D) aag (K) ccc (P) aga (R) cca (P) aac (N) tag (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 10 678 P 687 * 10 large_intestine NF1 1 c.4818_4818delT p.Y1607fs*17 length of cdnaseq = 8520 length of protseq = 2839 4818 4818 T 1 1606 3 1606 3 t Total no. of codons in cdna seq = 2840 ttt ttt start t-t post t end t-t tt- --- frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 1623 Protein length after deletion = 1622 Total no. of codons in del cdnaseq = 2840 last codon in array is ga aat (N) cct (P) att (I) ttt (F) ttt (F) tat (Y) tat (Y) gtt (V) gca (A) aat (N) cct (P) att (I) ttt (F) att (I) atg (M) ttg (L) original frameshift length = 18 frameshift length = 18 frameshifted sequence: ttt (F) att (I) atg (M) ttg (L) cac (H) gga (G) ggt (G) tca (S) aaa (K) ctg (L) gtc (V) aaa (K) tca (S) atg (M) gtg (V) att (I) tgc (C) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttt (F) ttt (F) first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 17 1607 Y 1623 * 17 large_intestine NF1 1 c.4977_4980delCTCT p.S1660fs*37 length of cdnaseq = 8520 length of protseq = 2839 4977 4980 CTCT 4 1659 3 1660 3 ctct Total no. of codons in cdna seq = 2840 ctc tct start t-c post a end t-a ct- --- frameshift deletion length of cdnaseq after deletion = 8516 ter codon is tga at posn 1696 Protein length after deletion = 1695 Total no. of codons in del cdnaseq = 2839 last codon in array is ga aca (T) gac (D) ttt (F) ctc (L) tct (S) aag (K) tgg (W) ttt (F) gtt (V) aca (T) gac (D) ttt (F) cta (L) agt (S) ggt (G) ttg (L) original frameshift length = 38 frameshift length = 38 frameshifted sequence: cta (L) agt (S) ggt (G) ttg (L) ttg (L) ttt (F) ttc (F) ctg (L) gct (A) ttg (L) ctt (L) acg (T) aca (T) acg (T) tct (S) ccg (P) cag (Q) tct (S) ata (I) tct (S) ata (I) act (T) gta (V) act (T) cct (P) ggg (G) tca (S) ggg (G) agt (S) aca (T) cca (P) agt (S) atc (I) atg (M) agc (S) ggc (G) tgc (C) tga (TER) wild type sequence in deletion region: ctc (L) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctc (L) cta (L) matching aa in delstart region of wt and deletion mutant: tct (S) agt (S) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 36 1660 S 1696 * 37 K S 1 large_intestine NF1 c.4977_4980delCTCT p.S1660fs*37 large_intestine NF1 1 c.7022delA p.N2341fs*5 length of cdnaseq = 8520 length of protseq = 2839 7022 7022 A 1 2341 2 2341 2 a Total no. of codons in cdna seq = 2840 aac aac start a-a end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tag at posn 2345 Protein length after deletion = 2344 Total no. of codons in del cdnaseq = 2840 last codon in array is ga ctt (L) gaa (E) caa (Q) aac (N) aac (N) ctg (L) cat (H) act (T) tta (L) ctt (L) gaa (E) caa (Q) acc (T) tgc (C) ata (I) ctt (L) original frameshift length = 5 frameshift length = 5 frameshifted sequence: acc (T) tgc (C) ata (I) ctt (L) tag (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 5 2341 N 2345 * 5 lung NF1 1 c.2395_2395delA p.M799fs*22 length of cdnaseq = 8520 length of protseq = 2839 2395 2395 A 1 799 1 799 1 a Total no. of codons in cdna seq = 2840 atg atg prev a start a-a end a-t --- -tg frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 820 Protein length after deletion = 819 Total no. of codons in del cdnaseq = 2840 last codon in array is ga aaa (K) gcc (A) aaa (K) atg (M) atg (M) gaa (E) gat (D) ggc (G) cag (Q) aaa (K) gcc (A) aaa (K) tgg (W) aag (K) atg (M) gcc (A) original frameshift length = 22 frameshift length = 22 frameshifted sequence: tgg (W) aag (K) atg (M) gcc (A) agg (R) ctg (L) ctg (L) aaa (K) gcc (A) ttc (F) aca (T) aga (R) cca (P) ttg (L) tta (L) aga (R) ggc (G) gaa (E) tgt (C) ccc (P) atg (M) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 22 799 M 820 * 22 soft_tissue NF1 1 c.1153_1153delC p.R385fs*2 length of cdnaseq = 8520 length of protseq = 2839 1153 1153 C 1 385 1 385 1 c Total no. of codons in cdna seq = 2840 cgt cgt prev t start t-c end c-g --- -gt frameshift deletion length of cdnaseq after deletion = 8519 ter codon is taa at posn 386 Protein length after deletion = 385 Total no. of codons in del cdnaseq = 2840 last codon in array is ga tct (S) tgc (C) ttt (F) cgt (R) cgt (R) ata (I) agc (S) cct (P) cac (H) tct (S) tgc (C) ttt (F) gta (V) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gta (V) taa (TER) wild type sequence in deletion region: cgt (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 2 385 R 386 * 2 soft_tissue NF1 1 c.1178_1179delAC p.H393fs*2 length of cdnaseq = 8520 length of protseq = 2839 1178 1179 AC 2 393 2 393 3 ac Total no. of codons in cdna seq = 2840 cac cac start c-a post t end c-t c-- --- frameshift deletion length of cdnaseq after deletion = 8518 ter codon is taa at posn 394 Protein length after deletion = 393 Total no. of codons in del cdnaseq = 2840 last codon in array is a aac (N) aac (N) caa (Q) cac (H) cac (H) ttt (F) aag (K) atc (I) tgc (C) aac (N) aac (N) caa (Q) ctt (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctt (L) taa (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 2 393 H 394 * 2 soft_tissue NF1 1 c.1541_1542delAG p.Q514fs*43 length of cdnaseq = 8520 length of protseq = 2839 1541 1542 AG 2 514 2 514 3 ag Total no. of codons in cdna seq = 2840 cag cag start c-a post g end g-g c-- --- frameshift deletion length of cdnaseq after deletion = 8518 ter codon is tag at posn 556 Protein length after deletion = 555 Total no. of codons in del cdnaseq = 2840 last codon in array is a cca (P) aga (R) aaa (K) cag (Q) cag (Q) ggg (G) ccc (P) gaa (E) acc (T) cca (P) aga (R) aaa (K) cgg (R) gcc (A) cga (R) aac (N) original frameshift length = 43 frameshift length = 43 frameshifted sequence: cgg (R) gcc (A) cga (R) aac (N) cca (P) agg (R) cag (Q) tac (Y) agc (S) aga (R) att (I) aat (N) tac (Y) agg (R) gct (A) cgt (R) cca (P) act (T) ggt (G) ccc (P) tca (S) gtc (V) aca (T) cat (H) gcc (A) aga (R) gat (D) tgc (C) tca (S) gga (G) agc (S) aat (N) gga (G) ggc (G) tct (S) gct (A) ggt (G) tct (S) tca (S) tca (S) gtt (V) aga (R) tag (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 43 514 Q 556 * 43 soft_tissue NF1 1 c.1594_1594delC p.L532fs*24 length of cdnaseq = 8520 length of protseq = 2839 1594 1594 C 1 532 1 532 1 c Total no. of codons in cdna seq = 2840 ctg ctg prev a start a-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tag at posn 555 Protein length after deletion = 554 Total no. of codons in del cdnaseq = 2840 last codon in array is ga ctc (L) gtc (V) caa (Q) ctg (L) ctg (L) gtc (V) cct (P) cag (Q) tca (S) ctc (L) gtc (V) caa (Q) tgg (W) tcc (S) ctc (L) agt (S) original frameshift length = 24 frameshift length = 24 frameshifted sequence: tgg (W) tcc (S) ctc (L) agt (S) cac (H) aca (T) tgc (C) cag (Q) aga (R) ttg (L) ctc (L) agg (R) aag (K) caa (Q) tgg (W) agg (R) ctc (L) tgc (C) tgg (W) ttc (F) ttc (F) atc (I) agt (S) tag (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 24 532 L 555 * 24 soft_tissue NF1 1 c.1663_1666delTTAG p.L555fs*12 length of cdnaseq = 8520 length of protseq = 2839 1663 1666 TTAG 4 555 1 556 1 ttag Total no. of codons in cdna seq = 2840 tta gat prev g start g-t end g-a --- -at frameshift deletion length of cdnaseq after deletion = 8516 ter codon is tag at posn 566 Protein length after deletion = 565 Total no. of codons in del cdnaseq = 2839 last codon in array is ga ctt (L) cat (H) cag (Q) tta (L) gat (D) agc (S) att (I) gat (D) ttg (L) ctt (L) cat (H) cag (Q) ata (I) gca (A) ttg (L) att (I) original frameshift length = 12 frameshift length = 12 frameshifted sequence: ata (I) gca (A) ttg (L) att (I) tgt (C) gga (G) atc (I) ctg (L) atg (M) ctc (L) ctg (L) tag (TER) wild type sequence in deletion region: tta (L) gat (D) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 12 555 L 566 * 12 soft_tissue NF1 1 c.1888_1888delG p.V630fs*1 length of cdnaseq = 8520 length of protseq = 2839 1888 1888 G 1 630 1 630 1 g Total no. of codons in cdna seq = 2840 gta gta prev g start g-g end g-t --- -ta frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tag at posn 630 Protein length after deletion = 629 Total no. of codons in del cdnaseq = 2840 last codon in array is ga ttt (F) tac (Y) ggg (G) gta (V) gta (V) gga (G) tgt (C) gat (D) att (I) ttt (F) tac (Y) ggg (G) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 630 V 630 * 1 soft_tissue NF1 1 c.2033_2033delC p.P678fs*10 length of cdnaseq = 8520 length of protseq = 2839 2033 2033 C 1 678 2 678 2 c Total no. of codons in cdna seq = 2840 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tag at posn 687 Protein length after deletion = 686 Total no. of codons in del cdnaseq = 2840 last codon in array is ga gga (G) acc (T) ccc (P) ccg (P) ccg (P) att (I) tgc (C) cga (R) caa (Q) gga (G) acc (T) ccc (P) cga (R) ttt (F) gcc (A) gac (D) original frameshift length = 10 frameshift length = 10 frameshifted sequence: cga (R) ttt (F) gcc (A) gac (D) aag (K) ccc (P) aga (R) cca (P) aac (N) tag (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 10 678 P 687 * 10 soft_tissue NF1 1 c.2088_2088delG p.W696fs*1 length of cdnaseq = 8520 length of protseq = 2839 2088 2088 G 1 696 3 696 3 g Total no. of codons in cdna seq = 2840 tgg tgg start g-g post a end g-a tg- --- frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 696 Protein length after deletion = 695 Total no. of codons in del cdnaseq = 2840 last codon in array is ga atg (M) ttt (F) ctg (L) tgg (W) tgg (W) aac (N) cct (P) gac (D) act (T) atg (M) ttt (F) ctg (L) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tgg (W) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 1 696 W 696 * 1 soft_tissue NF1 1 c.246_247delTC p.Q83fs*23 length of cdnaseq = 8520 length of protseq = 2839 246 247 TC 2 82 3 83 1 tc Total no. of codons in cdna seq = 2840 tct cag start c-t end c-a tc- -ag frameshift deletion length of cdnaseq after deletion = 8518 ter codon is tga at posn 105 Protein length after deletion = 104 Total no. of codons in del cdnaseq = 2840 last codon in array is a tta (L) tat (Y) ctc (L) tct (S) cag (Q) ttg (L) att (I) ata (I) ttg (L) tta (L) tat (Y) ctc (L) tca (S) gtt (V) gat (D) tat (Y) original frameshift length = 24 frameshift length = 24 frameshifted sequence: tca (S) gtt (V) gat (D) tat (Y) att (I) gga (G) tac (Y) act (T) gga (G) aaa (K) atg (M) tct (S) tgc (C) tgg (W) gca (A) acc (T) aaa (K) gga (G) cac (H) aat (N) gag (E) att (I) aga (R) tga (TER) wild type sequence in deletion region: tct (S) cag (Q) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tct (S) tca (S) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 23 83 Q 105 * 23 soft_tissue NF1 1 c.2815_2815delA p.N939fs*15 length of cdnaseq = 8520 length of protseq = 2839 2815 2815 A 1 939 1 939 1 a Total no. of codons in cdna seq = 2840 aat aat prev g start g-a end a-a --- -at frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 953 Protein length after deletion = 952 Total no. of codons in del cdnaseq = 2840 last codon in array is ga aaa (K) ttg (L) aag (K) aat (N) aat (N) acc (T) atc (I) agc (S) aag (K) aaa (K) ttg (L) aag (K) ata (I) cca (P) tca (S) gca (A) original frameshift length = 15 frameshift length = 15 frameshifted sequence: ata (I) cca (P) tca (S) gca (A) agt (S) ttt (F) ttg (L) act (T) ccc (P) aag (K) gac (D) agg (R) ttt (F) tat (Y) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 15 939 N 953 * 15 soft_tissue NF1 1 c.2843_2843delA p.G949fs*5 length of cdnaseq = 8520 length of protseq = 2839 2843 2843 A 1 948 2 948 2 a Total no. of codons in cdna seq = 2840 caa caa start c-a end a-a c-- --a frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 953 Protein length after deletion = 952 Total no. of codons in del cdnaseq = 2840 last codon in array is ga ttt (F) gac (D) tcc (S) caa (Q) caa (Q) gga (G) cag (Q) gtt (V) tta (L) ttt (F) gac (D) tcc (S) cag (Q) gac (D) agg (R) ttt (F) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cag (Q) gac (D) agg (R) ttt (F) tat (Y) tga (TER) wild type sequence in deletion region: caa (Q) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: caa (Q) cag (Q) first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 5 949 G 953 * 5 soft_tissue NF1 1 c.2928_2940del13 p.E977fs*3 length of cdnaseq = 8520 length of protseq = 2839 2928 2940 13 13 976 3 980 3 tgaaggcagctct Total no. of codons in cdna seq = 2840 act tct start c-t post g end t-g ac- --- frameshift deletion length of cdnaseq after deletion = 8507 ter codon is tag at posn 979 Protein length after deletion = 978 Total no. of codons in del cdnaseq = 2836 last codon in array is ga gat (D) aat (N) cat (H) act (T) tct (S) gaa (E) cat (H) cta (L) ggg (G) gat (D) aat (N) cat (H) acg (T) aac (N) atc (I) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: acg (T) aac (N) atc (I) tag (TER) wild type sequence in deletion region: act (T) gaa (E) ggc (G) agc (S) tct (S) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: act (T) acg (T) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 3 977 E 979 * 3 soft_tissue NF1 1 c.3047_3048delGT p.C1016fs*4 length of cdnaseq = 8520 length of protseq = 2839 3047 3048 GT 2 1016 2 1016 3 gt Total no. of codons in cdna seq = 2840 tgt tgt start t-g post c end t-c t-- --- frameshift deletion length of cdnaseq after deletion = 8518 ter codon is tga at posn 1019 Protein length after deletion = 1018 Total no. of codons in del cdnaseq = 2840 last codon in array is a acg (T) aaa (K) ctg (L) tgt (C) tgt (C) caa (Q) tta (L) gtt (V) gaa (E) acg (T) aaa (K) ctg (L) tca (S) att (I) agt (S) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tca (S) att (I) agt (S) tga (TER) wild type sequence in deletion region: tgt (C) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 4 1016 C 1019 * 4 soft_tissue NF1 1 c.3330_3330delT p.F1110fs*2 length of cdnaseq = 8520 length of protseq = 2839 3330 3330 T 1 1110 3 1110 3 t Total no. of codons in cdna seq = 2840 ttt ttt start t-t post a end t-a tt- --- frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 1111 Protein length after deletion = 1110 Total no. of codons in del cdnaseq = 2840 last codon in array is ga ttc (F) aca (T) tta (L) ttt (F) ttt (F) atg (M) aac (N) ctt (L) ttg (L) ttc (F) aca (T) tta (L) tta (L) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: tta (L) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 2 1110 F 1111 * 2 soft_tissue NF1 1 c.359_375del17 p.F120fs*1 length of cdnaseq = 8520 length of protseq = 2839 359 375 17 17 120 2 125 3 ttcttcacacctgtcgt Total no. of codons in cdna seq = 2840 ttt cgt start t-t post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 8503 ter codon is tga at posn 120 Protein length after deletion = 119 Total no. of codons in del cdnaseq = 2835 last codon in array is a atc (I) tgc (C) cat (H) ttt (F) cgt (R) gaa (E) gga (G) aac (N) cag (Q) atc (I) tgc (C) cat (H) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: ttt (F) ctt (L) cac (H) acc (T) tgt (C) cgt (R) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 1 120 F 120 * 1 soft_tissue NF1 1 c.3757_3764delCTCTACCA p.L1253fs*8 length of cdnaseq = 8520 length of protseq = 2839 3757 3764 CTCTACCA 8 1253 1 1255 2 ctctacca Total no. of codons in cdna seq = 2840 ctc caa prev a start a-c end a-a --- --a frameshift deletion length of cdnaseq after deletion = 8512 ter codon is taa at posn 1260 Protein length after deletion = 1259 Total no. of codons in del cdnaseq = 2838 last codon in array is a cgg (R) cat (H) tta (L) ctc (L) caa (Q) ctg (L) ctc (L) tgg (W) aac (N) cgg (R) cat (H) tta (L) act (T) gct (A) ctg (L) gaa (E) original frameshift length = 8 frameshift length = 8 frameshifted sequence: act (T) gct (A) ctg (L) gaa (E) cat (H) gtt (V) ttc (F) taa (TER) wild type sequence in deletion region: ctc (L) tac (Y) caa (Q) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 8 1253 L 1260 * 8 soft_tissue NF1 1 c.396_403delTGAACTTC p.L134fs*19 length of cdnaseq = 8520 length of protseq = 2839 396 403 TGAACTTC 8 132 3 135 1 tgaacttc Total no. of codons in cdna seq = 2840 gct cgg start c-t end c-g gc- -gg frameshift deletion length of cdnaseq after deletion = 8512 ter codon is tag at posn 152 Protein length after deletion = 151 Total no. of codons in del cdnaseq = 2838 last codon in array is a cag (Q) cat (H) gca (A) gct (A) cgg (R) aat (N) tct (S) gcc (A) tct (S) cag (Q) cat (H) gca (A) gcg (A) gaa (E) ttc (F) tgc (C) original frameshift length = 21 frameshift length = 21 frameshifted sequence: gcg (A) gaa (E) ttc (F) tgc (C) ctc (L) tgg (W) ggt (G) ttt (F) att (I) ttc (F) tct (S) cag (Q) ctg (L) caa (Q) caa (Q) ctt (L) caa (Q) tgc (C) agt (S) ctt (L) tag (TER) wild type sequence in deletion region: gct (A) gaa (E) ctt (L) cgg (R) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: gct (A) gcg (A) matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 19 134 L 152 * 19 soft_tissue NF1 1 c.4086_4092delAAGTGTG p.S1363fs*13 length of cdnaseq = 8520 length of protseq = 2839 4086 4092 AAGTGTG 7 1362 3 1364 3 aagtgtg Total no. of codons in cdna seq = 2840 cga gtg start g-a post t end g-t cg- --- frameshift deletion length of cdnaseq after deletion = 8513 ter codon is tga at posn 1375 Protein length after deletion = 1374 Total no. of codons in del cdnaseq = 2838 last codon in array is ga cct (P) caa (Q) ctt (L) cga (R) gtg (V) tgc (C) cac (H) tgt (C) tta (L) cct (P) caa (Q) ctt (L) cgt (R) gcc (A) act (T) gtt (V) original frameshift length = 14 frameshift length = 14 frameshifted sequence: cgt (R) gcc (A) act (T) gtt (V) tat (Y) acc (T) agg (R) caa (Q) ctt (L) gcc (A) act (T) ccc (P) tac (Y) tga (TER) wild type sequence in deletion region: cga (R) agt (S) gtg (V) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: cga (R) cgt (R) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 13 1363 S 1375 * 13 soft_tissue NF1 1 c.4437_4438delCC p.L1480fs*1 length of cdnaseq = 8520 length of protseq = 2839 4437 4438 CC 2 1479 3 1480 1 cc Total no. of codons in cdna seq = 2840 ttc ctt start t-c end c-t tt- -tt frameshift deletion length of cdnaseq after deletion = 8518 ter codon is tga at posn 1480 Protein length after deletion = 1479 Total no. of codons in del cdnaseq = 2840 last codon in array is a cgc (R) agg (R) ttt (F) ttc (F) ctt (L) gat (D) ata (I) gca (A) tct (S) cgc (R) agg (R) ttt (F) ttt (F) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ttt (F) tga (TER) wild type sequence in deletion region: ttc (F) ctt (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ttc (F) ttt (F) first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 1 1480 L 1480 * 1 soft_tissue NF1 1 c.4564_4565delCT p.L1522fs*7 length of cdnaseq = 8520 length of protseq = 2839 4564 4565 CT 2 1522 1 1522 2 ct Total no. of codons in cdna seq = 2840 ctt ctt prev t start t-c end t-t --- --t frameshift deletion length of cdnaseq after deletion = 8518 ter codon is taa at posn 1528 Protein length after deletion = 1527 Total no. of codons in del cdnaseq = 2840 last codon in array is a ggg (G) cag (Q) tat (Y) ctt (L) ctt (L) tcc (S) agc (S) aac (N) agg (R) ggg (G) cag (Q) tat (Y) ttc (F) cag (Q) caa (Q) cag (Q) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ttc (F) cag (Q) caa (Q) cag (Q) gga (G) tca (S) taa (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 7 1522 L 1528 * 7 soft_tissue NF1 1 c.4643_4653del11 p.P1548fs*12 length of cdnaseq = 8520 length of protseq = 2839 4643 4653 11 11 1548 2 1551 3 ctccagagcac Total no. of codons in cdna seq = 2840 cct cac start c-c post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 8509 ter codon is taa at posn 1559 Protein length after deletion = 1558 Total no. of codons in del cdnaseq = 2837 last codon in array is a tac (Y) ctg (L) ggt (G) cct (P) cac (H) aaa (K) cct (P) gtg (V) gca (A) tac (Y) ctg (L) ggt (G) caa (Q) acc (T) tgt (C) ggc (G) original frameshift length = 12 frameshift length = 12 frameshifted sequence: caa (Q) acc (T) tgt (C) ggc (G) aga (R) tac (Y) aca (T) ctg (L) gtc (V) cag (Q) cct (P) taa (TER) wild type sequence in deletion region: cct (P) cca (P) gag (E) cac (H) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 12 1548 P 1559 * 12 soft_tissue NF1 1 c.4792_4792delA p.T1598fs*26 length of cdnaseq = 8520 length of protseq = 2839 4792 4792 A 1 1598 1 1598 1 a Total no. of codons in cdna seq = 2840 act act prev g start g-a end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 1623 Protein length after deletion = 1622 Total no. of codons in del cdnaseq = 2840 last codon in array is ga caa (Q) gct (A) ggg (G) act (T) act (T) tcc (S) aaa (K) gct (A) ggg (G) caa (Q) gct (A) ggg (G) ctt (L) cca (P) aag (K) ctg (L) original frameshift length = 26 frameshift length = 26 frameshifted sequence: ctt (L) cca (P) aag (K) ctg (L) gga (G) atc (I) cta (L) ttt (F) ttt (F) att (I) atg (M) ttg (L) cac (H) gga (G) ggt (G) tca (S) aaa (K) ctg (L) gtc (V) aaa (K) tca (S) atg (M) gtg (V) att (I) tgc (C) tga (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 26 1598 T 1623 * 26 soft_tissue NF1 1 c.4806_4806delG p.N1603fs*21 length of cdnaseq = 8520 length of protseq = 2839 4806 4806 G 1 1602 3 1602 3 g Total no. of codons in cdna seq = 2840 ggg ggg start g-g post a end g-a gg- --- frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 1623 Protein length after deletion = 1622 Total no. of codons in del cdnaseq = 2840 last codon in array is ga tcc (S) aaa (K) gct (A) ggg (G) ggg (G) aat (N) cct (P) att (I) ttt (F) tcc (S) aaa (K) gct (A) gga (G) atc (I) cta (L) ttt (F) original frameshift length = 22 frameshift length = 22 frameshifted sequence: gga (G) atc (I) cta (L) ttt (F) ttt (F) att (I) atg (M) ttg (L) cac (H) gga (G) ggt (G) tca (S) aaa (K) ctg (L) gtc (V) aaa (K) tca (S) atg (M) gtg (V) att (I) tgc (C) tga (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 21 1603 N 1623 * 21 soft_tissue NF1 1 c.4818_4818delT p.Y1607fs*17 length of cdnaseq = 8520 length of protseq = 2839 4818 4818 T 1 1606 3 1606 3 t Total no. of codons in cdna seq = 2840 ttt ttt start t-t post t end t-t tt- --- frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 1623 Protein length after deletion = 1622 Total no. of codons in del cdnaseq = 2840 last codon in array is ga aat (N) cct (P) att (I) ttt (F) ttt (F) tat (Y) tat (Y) gtt (V) gca (A) aat (N) cct (P) att (I) ttt (F) att (I) atg (M) ttg (L) original frameshift length = 18 frameshift length = 18 frameshifted sequence: ttt (F) att (I) atg (M) ttg (L) cac (H) gga (G) ggt (G) tca (S) aaa (K) ctg (L) gtc (V) aaa (K) tca (S) atg (M) gtg (V) att (I) tgc (C) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttt (F) ttt (F) first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 17 1607 Y 1623 * 17 soft_tissue NF1 1 c.5089_5095delCTGACTG p.L1697fs*11 length of cdnaseq = 8520 length of protseq = 2839 5089 5095 CTGACTG 7 1697 1 1699 1 ctgactg Total no. of codons in cdna seq = 2840 ctg ggc prev g start g-c end g-g --- -gc frameshift deletion length of cdnaseq after deletion = 8513 ter codon is tag at posn 1707 Protein length after deletion = 1706 Total no. of codons in del cdnaseq = 2838 last codon in array is ga gag (E) cgg (R) ctg (L) ctg (L) ggc (G) ctc (L) aaa (K) ggt (G) agc (S) gag (E) cgg (R) ctg (L) gcc (A) tca (S) aag (K) gta (V) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gcc (A) tca (S) aag (K) gta (V) gca (A) aaa (K) ggc (G) ttg (L) ttt (F) tca (S) tag (TER) wild type sequence in deletion region: ctg (L) act (T) ggc (G) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 11 1697 L 1707 * 11 soft_tissue NF1 1 c.543_546delGTAT p.Y182fs*8 length of cdnaseq = 8520 length of protseq = 2839 543 546 GTAT 4 181 3 182 3 gtat Total no. of codons in cdna seq = 2840 cag tat start a-g post a end t-a ca- --- frameshift deletion length of cdnaseq after deletion = 8516 ter codon is taa at posn 189 Protein length after deletion = 188 Total no. of codons in del cdnaseq = 2839 last codon in array is ga gaa (E) ttg (L) tta (L) cag (Q) tat (Y) atc (I) aat (N) gtg (V) gat (D) gaa (E) ttg (L) tta (L) caa (Q) tca (S) atg (M) tgg (W) original frameshift length = 9 frameshift length = 9 frameshifted sequence: caa (Q) tca (S) atg (M) tgg (W) att (I) gtg (V) caa (Q) aat (N) taa (TER) wild type sequence in deletion region: cag (Q) tat (Y) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cag (Q) caa (Q) first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 8 182 Y 189 * 8 soft_tissue NF1 1 c.5831_5834delTTTG p.C1945fs*4 length of cdnaseq = 8520 length of protseq = 2839 5831 5834 TTTG 4 1944 2 1945 2 tttg Total no. of codons in cdna seq = 2840 ctt tgt start c-t end g-t c-- --t frameshift deletion length of cdnaseq after deletion = 8516 ter codon is tga at posn 1948 Protein length after deletion = 1947 Total no. of codons in del cdnaseq = 2839 last codon in array is ga ttg (L) aaa (K) cac (H) ctt (L) tgt (C) ttg (L) gaa (E) tac (Y) atg (M) ttg (L) aaa (K) cac (H) ctt (L) tgg (W) aat (N) aca (T) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ctt (L) tgg (W) aat (N) aca (T) tga (TER) wild type sequence in deletion region: ctt (L) tgt (C) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 4 1945 C 1948 * 4 soft_tissue NF1 1 c.5837_5837delT p.L1946fs*4 length of cdnaseq = 8520 length of protseq = 2839 5837 5837 T 1 1946 2 1946 2 t Total no. of codons in cdna seq = 2840 ttg ttg start t-t end t-g t-- --g frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 1949 Protein length after deletion = 1948 Total no. of codons in del cdnaseq = 2840 last codon in array is ga cac (H) ctt (L) tgt (C) ttg (L) ttg (L) gaa (E) tac (Y) atg (M) act (T) cac (H) ctt (L) tgt (C) tgg (W) aat (N) aca (T) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tgg (W) aat (N) aca (T) tga (TER) wild type sequence in deletion region: ttg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 4 1946 L 1949 * 4 soft_tissue NF1 1 c.5851_5851delC p.P1951fs*6 length of cdnaseq = 8520 length of protseq = 2839 5851 5851 C 1 1951 1 1951 1 c Total no. of codons in cdna seq = 2840 cca cca prev t start t-c end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tag at posn 1956 Protein length after deletion = 1955 Total no. of codons in del cdnaseq = 2840 last codon in array is ga tac (Y) atg (M) act (T) cca (P) cca (P) tgg (W) ctg (L) tca (S) aat (N) tac (Y) atg (M) act (T) cat (H) ggc (G) tgt (C) caa (Q) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cat (H) ggc (G) tgt (C) caa (Q) atc (I) tag (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 6 1951 P 1956 * 6 soft_tissue NF1 1 c.603_621del19 p.F201fs*4 length of cdnaseq = 8520 length of protseq = 2839 603 621 19 19 201 3 207 3 taaagccctaaagaaggtt Total no. of codons in cdna seq = 2840 ttt gtt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 8501 ter codon is tag at posn 204 Protein length after deletion = 203 Total no. of codons in del cdnaseq = 2834 last codon in array is ga gca (A) ttt (F) aaa (K) ttt (F) gtt (V) gcg (A) cag (Q) tta (L) gca (A) gca (A) ttt (F) aaa (K) ttg (L) cgc (R) agt (S) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: ttg (L) cgc (R) agt (S) tag (TER) wild type sequence in deletion region: ttt (F) aaa (K) gcc (A) cta (L) aag (K) aag (K) gtt (V) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 4 201 F 204 * 4 soft_tissue NF1 1 c.6355_6385del31 p.R2119fs*21 length of cdnaseq = 8520 length of protseq = 2839 6355 6385 31 31 2119 1 2129 1 agagcttccacacatggactggtcattaata Total no. of codons in cdna seq = 2840 aga atc prev t start t-a end a-t --- -tc frameshift deletion length of cdnaseq after deletion = 8489 ter codon is tga at posn 2139 Protein length after deletion = 2138 Total no. of codons in del cdnaseq = 2830 last codon in array is ga ctc (L) tcc (S) ctt (L) aga (R) atc (I) att (I) cac (H) tct (S) ctg (L) ctc (L) tcc (S) ctt (L) tca (S) ttc (F) act (T) ctc (L) original frameshift length = 21 frameshift length = 21 frameshifted sequence: tca (S) ttc (F) act (T) ctc (L) tgt (C) gta (V) ctt (L) gtt (V) cac (H) agc (S) ttc (F) att (I) tta (L) gtg (V) aag (K) aga (R) cca (P) agc (S) aag (K) ttt (F) tga (TER) wild type sequence in deletion region: aga (R) gct (A) tcc (S) aca (T) cat (H) gga (G) ctg (L) gtc (V) att (I) aat (N) atc (I) wt frameshift deln region length = 11 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 21 2119 R 2139 * 21 soft_tissue NF1 1 c.7300_7316del17 p.Q2434fs*8 length of cdnaseq = 8520 length of protseq = 2839 7300 7316 17 17 2434 1 2439 2 cagagcgtggcctactt Total no. of codons in cdna seq = 2840 cag tta prev a start a-c end t-a --- --a frameshift deletion length of cdnaseq after deletion = 8503 ter codon is tga at posn 2441 Protein length after deletion = 2440 Total no. of codons in del cdnaseq = 2835 last codon in array is a gtg (V) aat (N) aca (T) cag (Q) tta (L) gca (A) gct (A) tta (L) ctt (L) gtg (V) aat (N) aca (T) agc (S) agc (S) ttt (F) act (T) original frameshift length = 8 frameshift length = 8 frameshifted sequence: agc (S) agc (S) ttt (F) act (T) tac (Y) agt (S) gtc (V) tga (TER) wild type sequence in deletion region: cag (Q) agc (S) gtg (V) gcc (A) tac (Y) tta (L) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 8 2434 Q 2441 * 8 soft_tissue NF1 1 c.748_748delT p.F250fs*31 length of cdnaseq = 8520 length of protseq = 2839 748 748 T 1 250 1 250 1 t Total no. of codons in cdna seq = 2840 ttt ttt prev a start a-t end t-t --- -tt frameshift deletion length of cdnaseq after deletion = 8519 ter codon is taa at posn 280 Protein length after deletion = 279 Total no. of codons in del cdnaseq = 2840 last codon in array is ga gaa (E) aag (K) cta (L) ttt (F) ttt (F) gac (D) ttg (L) gtg (V) gat (D) gaa (E) aag (K) cta (L) ttg (L) act (T) tgg (W) tgg (W) original frameshift length = 31 frameshift length = 31 frameshifted sequence: ttg (L) act (T) tgg (W) tgg (W) atg (M) gtt (V) ttg (L) ctg (L) aaa (K) gca (A) cca (P) aac (N) gta (V) aag (K) cag (Q) cag (Q) ttt (F) ggc (G) cac (H) tac (Y) aaa (K) tca (S) ttc (F) tcc (S) tta (L) tct (S) tgt (C) gtc (V) cag (Q) aaa (K) taa (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 31 250 F 280 * 31 soft_tissue NF1 1 c.7501_7501delG p.E2501fs*22 length of cdnaseq = 8520 length of protseq = 2839 7501 7501 G 1 2501 1 2501 1 g Total no. of codons in cdna seq = 2840 gaa gaa prev t start t-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 8519 ter codon is tga at posn 2522 Protein length after deletion = 2521 Total no. of codons in del cdnaseq = 2840 last codon in array is ga aaa (K) ggt (G) tct (S) gaa (E) gaa (E) gga (G) tac (Y) ctt (L) gca (A) aaa (K) ggt (G) tct (S) aag (K) gat (D) acc (T) ttg (L) original frameshift length = 22 frameshift length = 22 frameshifted sequence: aag (K) gat (D) acc (T) ttg (L) cag (Q) cca (P) cct (P) atc (I) caa (Q) ctg (L) tcg (S) gcc (A) aga (R) cca (P) gtc (V) ccc (P) gag (E) cca (P) gga (G) aat (N) cca (P) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 22 2501 E 2522 * 22 soft_tissue NF1 1 c.7783_7784delAA p.K2595fs*5 length of cdnaseq = 8520 length of protseq = 2839 7783 7784 AA 2 2595 1 2595 2 aa Total no. of codons in cdna seq = 2840 aaa aaa prev t start t-a end a-a --- --a frameshift deletion length of cdnaseq after deletion = 8518 ter codon is tga at posn 2599 Protein length after deletion = 2598 Total no. of codons in del cdnaseq = 2840 last codon in array is a cat (H) tta (L) cgt (R) aaa (K) aaa (K) gtt (V) tca (S) gtg (V) tct (S) cat (H) tta (L) cgt (R) agt (S) ttc (F) agt (S) gtc (V) original frameshift length = 5 frameshift length = 5 frameshifted sequence: agt (S) ttc (F) agt (S) gtc (V) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 5 2595 K 2599 * 5 breast NF2 1 c.600_810del211 p.R200fs*26 length of cdnaseq = 1788 length of protseq = 595 600 810 211 211 200 3 270 3 ggatgaagctgaaatggaatatctgaagatagctcaggacctggagatgtacggtgtgaactactttgcaatccggaataaaaagggcacagagctgctgcttggagtggatgccctggggcttcacatttatgaccctgagaacagactgacccccaagatctccttcccgtggaatgaaatccgaaacatctcgtacagtgacaaggag Total no. of codons in cdna seq = 596 agg gag start g-g post t end g-t ag- --- frameshift deletion length of cdnaseq after deletion = 1577 ter codon is tga at posn 225 Protein length after deletion = 224 Total no. of codons in del cdnaseq = 526 last codon in array is ag ggc (G) cga (R) gcc (A) agg (R) gag (E) ttt (F) act (T) att (I) aaa (K) ggc (G) cga (R) gcc (A) agt (S) tta (L) cta (L) tta (L) original frameshift length = 26 frameshift length = 26 frameshifted sequence: agt (S) tta (L) cta (L) tta (L) aac (N) cac (H) tgg (W) ata (I) aga (R) aaa (K) ttg (L) atg (M) tct (S) tca (S) agt (S) tta (L) act (T) cct (P) caa (Q) agc (S) ttc (F) gtg (V) tta (L) ata (I) agc (S) tga (TER) wild type sequence in deletion region: agg (R) gat (D) gaa (E) gct (A) gaa (E) atg (M) gaa (E) tat (Y) ctg (L) aag (K) ata (I) gct (A) cag (Q) gac (D) ctg (L) gag (E) atg (M) tac (Y) ggt (G) gtg (V) aac (N) tac (Y) ttt (F) gca (A) atc (I) cgg (R) aat (N) aaa (K) aag (K) ggc (G) aca (T) gag (E) ctg (L) ctg (L) ctt (L) gga (G) gtg (V) gat (D) gcc (A) ctg (L) ggg (G) ctt (L) cac (H) att (I) tat (Y) gac (D) cct (P) gag (E) aac (N) aga (R) ctg (L) acc (T) ccc (P) aag (K) atc (I) tcc (S) ttc (F) ccg (P) tgg (W) aat (N) gaa (E) atc (I) cga (R) aac (N) atc (I) tcg (S) tac (Y) agt (S) gac (D) aag (K) gag (E) wt frameshift deln region length = 71 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 26 200 R 225 * 26 central_nervous_system NF2 1 c.601_601delG p.D201fs*8 length of cdnaseq = 1788 length of protseq = 595 601 601 G 1 201 1 201 1 g Total no. of codons in cdna seq = 596 gat gat prev g start g-g end g-a --- -at frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 208 Protein length after deletion = 207 Total no. of codons in del cdnaseq = 596 last codon in array is ag cga (R) gcc (A) agg (R) gat (D) gat (D) gaa (E) gct (A) gaa (E) atg (M) cga (R) gcc (A) agg (R) atg (M) aag (K) ctg (L) aaa (K) original frameshift length = 8 frameshift length = 8 frameshifted sequence: atg (M) aag (K) ctg (L) aaa (K) tgg (W) aat (N) atc (I) tga (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 8 201 D 208 * 8 central_nervous_system NF2 1 c.621_621delT p.L208fs*1 length of cdnaseq = 1788 length of protseq = 595 621 621 T 1 207 3 207 3 t Total no. of codons in cdna seq = 596 tat tat start a-t post c end t-c ta- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 208 Protein length after deletion = 207 Total no. of codons in del cdnaseq = 596 last codon in array is ag gaa (E) atg (M) gaa (E) tat (Y) tat (Y) ctg (L) aag (K) ata (I) gct (A) gaa (E) atg (M) gaa (E) tac (Y) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: tac (Y) tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tat (Y) tac (Y) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 1 208 L 208 * 1 central_nervous_system NF2 1 c.681_690del10 p.K228fs*20 length of cdnaseq = 1788 length of protseq = 595 681 690 10 10 227 3 230 3 aaagggcaca Total no. of codons in cdna seq = 596 aaa aca start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 1778 ter codon is tga at posn 247 Protein length after deletion = 246 Total no. of codons in del cdnaseq = 593 last codon in array is ag atc (I) cgg (R) aat (N) aaa (K) aca (T) gag (E) ctg (L) ctg (L) ctt (L) atc (I) cgg (R) aat (N) aag (K) agc (S) tgc (C) tgc (C) original frameshift length = 21 frameshift length = 21 frameshifted sequence: aag (K) agc (S) tgc (C) tgc (C) ttg (L) gag (E) tgg (W) atg (M) ccc (P) tgg (W) ggc (G) ttc (F) aca (T) ttt (F) atg (M) acc (T) ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: aaa (K) aag (K) ggc (G) aca (T) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 20 228 K 247 * 20 central_nervous_system NF2 1 c.908_908delA p.N303fs*6 length of cdnaseq = 1788 length of protseq = 595 908 908 A 1 303 2 303 2 a Total no. of codons in cdna seq = 596 aac aac start a-a end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 308 Protein length after deletion = 307 Total no. of codons in del cdnaseq = 596 last codon in array is ag tgt (C) atc (I) ggg (G) aac (N) aac (N) cat (H) gat (D) cta (L) ttt (F) tgt (C) atc (I) ggg (G) acc (T) atg (M) atc (I) tat (Y) original frameshift length = 6 frameshift length = 6 frameshifted sequence: acc (T) atg (M) atc (I) tat (Y) tta (L) tga (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 6 303 N 308 * 6 endometrium NF2 1 c.514_514delA p.R172fs*2 length of cdnaseq = 1788 length of protseq = 595 514 514 A 1 172 1 172 1 a Total no. of codons in cdna seq = 596 agg agg prev a start a-a end a-g --- -gg frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag ctt (L) cca (P) aaa (K) agg (R) agg (R) gta (V) ata (I) aat (N) ctg (L) ctt (L) cca (P) aaa (K) ggg (G) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ggg (G) taa (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 2 172 R 173 * 2 kidney NF2 1 c.1393_1393delG p.E465fs*20 length of cdnaseq = 1788 length of protseq = 595 1393 1393 G 1 465 1 465 1 g Total no. of codons in cdna seq = 596 gag gag prev g start g-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag cgc (R) gag (E) gcg (A) gag (E) gag (E) cga (R) aga (R) gcc (A) aag (K) cgc (R) gag (E) gcg (A) agc (S) gaa (E) gag (E) cca (P) original frameshift length = 20 frameshift length = 20 frameshifted sequence: agc (S) gaa (E) gag (E) cca (P) agc (S) aga (R) agc (S) tcc (S) tgg (W) aga (R) ttg (L) cca (P) cca (P) agc (S) cca (P) cgt (R) acc (T) cgc (R) cca (P) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 20 465 E 484 * 20 kidney NF2 1 c.314_327delCTGAAGAGGAGCTG p.A105fs*20 length of cdnaseq = 1788 length of protseq = 595 314 327 CTGAAGAGGAGCTG 14 105 2 109 3 ctgaagaggagctg Total no. of codons in cdna seq = 596 gct ctg start g-c post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 1774 ter codon is tga at posn 124 Protein length after deletion = 123 Total no. of codons in del cdnaseq = 592 last codon in array is g cct (P) gag (E) aat (N) gct (A) ctg (L) gtt (V) cag (Q) gag (E) atc (I) cct (P) gag (E) aat (N) ggt (G) tca (S) gga (G) gat (D) original frameshift length = 20 frameshift length = 20 frameshifted sequence: ggt (G) tca (S) gga (G) gat (D) cac (H) aca (T) aca (T) ttt (F) att (I) ctt (L) ctt (L) aca (T) ggt (G) aaa (K) gaa (E) gca (A) gat (D) ttt (F) aga (R) tga (TER) wild type sequence in deletion region: gct (A) gaa (E) gag (E) gag (E) ctg (L) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 20 105 A 124 * 20 meninges NF2 1 c.1050_1050delA p.E350fs*14 length of cdnaseq = 1788 length of protseq = 595 1050 1050 A 1 350 3 350 3 a Total no. of codons in cdna seq = 596 gaa gaa start a-a post c end a-c ga- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 363 Protein length after deletion = 362 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) gag (E) gct (A) gaa (E) gaa (E) cgc (R) acg (T) agg (R) gat (D) gag (E) gag (E) gct (A) gac (D) gca (A) cga (R) ggg (G) original frameshift length = 14 frameshift length = 14 frameshifted sequence: gac (D) gca (A) cga (R) ggg (G) atg (M) agt (S) tgg (W) aga (R) gga (G) ggc (G) tgc (C) tgc (C) aga (R) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 14 350 E 363 * 14 meninges NF2 1 c.105_105delC p.F35fs*5 length of cdnaseq = 1788 length of protseq = 595 105 105 C 1 35 3 35 3 c Total no. of codons in cdna seq = 596 ttc ttc start t-c post a end c-a tt- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 39 Protein length after deletion = 38 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) atg (M) gag (E) ttc (F) ttc (F) aat (N) tgc (C) gag (E) atg (M) gag (E) atg (M) gag (E) tta (L) att (I) gcg (A) aga (R) original frameshift length = 5 frameshift length = 5 frameshifted sequence: tta (L) att (I) gcg (A) aga (R) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 5 35 F 39 * 5 meninges NF2 1 c.1051_1051delC p.R351fs*13 length of cdnaseq = 1788 length of protseq = 595 1051 1051 C 1 351 1 351 1 c Total no. of codons in cdna seq = 596 cgc cgc prev a start a-c end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 363 Protein length after deletion = 362 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) gct (A) gaa (E) cgc (R) cgc (R) acg (T) agg (R) gat (D) gag (E) gag (E) gct (A) gaa (E) gca (A) cga (R) ggg (G) atg (M) original frameshift length = 13 frameshift length = 13 frameshifted sequence: gca (A) cga (R) ggg (G) atg (M) agt (S) tgg (W) aga (R) gga (G) ggc (G) tgc (C) tgc (C) aga (R) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 13 351 R 363 * 13 meninges NF2 1 c.1058_1058delG p.D354fs*10 length of cdnaseq = 1788 length of protseq = 595 1058 1058 G 1 353 2 353 2 g Total no. of codons in cdna seq = 596 agg agg start a-g end g-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 363 Protein length after deletion = 362 Total no. of codons in del cdnaseq = 596 last codon in array is ag gaa (E) cgc (R) acg (T) agg (R) agg (R) gat (D) gag (E) ttg (L) gag (E) gaa (E) cgc (R) acg (T) agg (R) atg (M) agt (S) tgg (W) original frameshift length = 11 frameshift length = 11 frameshifted sequence: agg (R) atg (M) agt (S) tgg (W) aga (R) gga (G) ggc (G) tgc (C) tgc (C) aga (R) tga (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agg (R) agg (R) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 10 354 D 363 * 10 meninges NF2 1 c.1065_1066delGT p.E355fs*23 length of cdnaseq = 1788 length of protseq = 595 1065 1066 GT 2 355 3 356 1 gt Total no. of codons in cdna seq = 596 gag ttg start a-g end t-t ga- -tg frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 377 Protein length after deletion = 376 Total no. of codons in del cdnaseq = 596 last codon in array is g acg (T) agg (R) gat (D) gag (E) ttg (L) gag (E) agg (R) agg (R) ctg (L) acg (T) agg (R) gat (D) gat (D) gga (G) gag (E) gag (E) original frameshift length = 23 frameshift length = 23 frameshifted sequence: gat (D) gga (G) gag (E) gag (E) gct (A) gct (A) gca (A) gat (D) gaa (E) aga (R) aga (R) agc (S) aac (N) aat (N) ggc (G) caa (Q) cga (R) agc (S) act (T) gat (D) gcg (A) gtc (V) tga (TER) wild type sequence in deletion region: gag (E) ttg (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 23 355 E 377 * 23 meninges NF2 1 c.1082_1106del25 p.L361fs*6 length of cdnaseq = 1788 length of protseq = 595 1082 1106 25 25 361 2 369 2 tgcagatgaaagaagaagcaacaat Total no. of codons in cdna seq = 596 ctg atg start c-t end t-g c-- --g frameshift deletion length of cdnaseq after deletion = 1763 ter codon is tga at posn 366 Protein length after deletion = 365 Total no. of codons in del cdnaseq = 588 last codon in array is ag agg (R) agg (R) ctg (L) ctg (L) atg (M) gcc (A) aac (N) gaa (E) gca (A) agg (R) agg (R) ctg (L) cgg (R) cca (P) acg (T) aag (K) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cgg (R) cca (P) acg (T) aag (K) cac (H) tga (TER) wild type sequence in deletion region: ctg (L) cag (Q) atg (M) aaa (K) gaa (E) gaa (E) gca (A) aca (T) atg (M) wt frameshift deln region length = 9 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 6 361 L 366 * 6 meninges NF2 1 c.1088_1088delT p.M363fs*12 length of cdnaseq = 1788 length of protseq = 595 1088 1088 T 1 363 2 363 2 t Total no. of codons in cdna seq = 596 atg atg start a-t end t-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 374 Protein length after deletion = 373 Total no. of codons in del cdnaseq = 596 last codon in array is ag ctg (L) ctg (L) cag (Q) atg (M) atg (M) aaa (K) gaa (E) gaa (E) gca (A) ctg (L) ctg (L) cag (Q) aga (R) aag (K) aag (K) aag (K) original frameshift length = 12 frameshift length = 12 frameshifted sequence: aga (R) aag (K) aag (K) aag (K) caa (Q) caa (Q) tgg (W) cca (P) acg (T) aag (K) cac (H) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 12 363 M 374 * 12 meninges NF2 1 c.1089_1089delG p.M363fs*12 length of cdnaseq = 1788 length of protseq = 595 1089 1089 G 1 363 3 363 3 g Total no. of codons in cdna seq = 596 atg atg start t-g post a end g-a at- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 374 Protein length after deletion = 373 Total no. of codons in del cdnaseq = 596 last codon in array is ag ctg (L) ctg (L) cag (Q) atg (M) atg (M) aaa (K) gaa (E) gaa (E) gca (A) ctg (L) ctg (L) cag (Q) ata (I) aag (K) aag (K) aag (K) original frameshift length = 12 frameshift length = 12 frameshifted sequence: ata (I) aag (K) aag (K) aag (K) caa (Q) caa (Q) tgg (W) cca (P) acg (T) aag (K) cac (H) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 12 363 M 374 * 12 meninges NF2 1 c.1092_1092delA p.E365fs*10 length of cdnaseq = 1788 length of protseq = 595 1092 1092 A 1 364 3 364 3 a Total no. of codons in cdna seq = 596 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 374 Protein length after deletion = 373 Total no. of codons in del cdnaseq = 596 last codon in array is ag ctg (L) cag (Q) atg (M) aaa (K) aaa (K) gaa (E) gaa (E) gca (A) aca (T) ctg (L) cag (Q) atg (M) aag (K) aag (K) aag (K) caa (Q) original frameshift length = 11 frameshift length = 11 frameshifted sequence: aag (K) aag (K) aag (K) caa (Q) caa (Q) tgg (W) cca (P) acg (T) aag (K) cac (H) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 10 365 E 374 * 10 meninges NF2 1 c.1101_1102delAA p.T368fs*10 length of cdnaseq = 1788 length of protseq = 595 1101 1102 AA 2 367 3 368 1 aa Total no. of codons in cdna seq = 596 gca aca start c-a end a-c gc- -ca frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 377 Protein length after deletion = 376 Total no. of codons in del cdnaseq = 596 last codon in array is g aaa (K) gaa (E) gaa (E) gca (A) aca (T) atg (M) gcc (A) aac (N) gaa (E) aaa (K) gaa (E) gaa (E) gcc (A) aat (N) ggc (G) caa (Q) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gcc (A) aat (N) ggc (G) caa (Q) cga (R) agc (S) act (T) gat (D) gcg (A) gtc (V) tga (TER) wild type sequence in deletion region: gca (A) aca (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gca (A) gcc (A) first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 10 368 T 377 * 10 meninges NF2 1 c.1107_1107delG p.A370fs*5 length of cdnaseq = 1788 length of protseq = 595 1107 1107 G 1 369 3 369 3 g Total no. of codons in cdna seq = 596 atg atg start t-g post g end g-g at- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 374 Protein length after deletion = 373 Total no. of codons in del cdnaseq = 596 last codon in array is ag gaa (E) gca (A) aca (T) atg (M) atg (M) gcc (A) aac (N) gaa (E) gca (A) gaa (E) gca (A) aca (T) atg (M) cca (P) acg (T) aag (K) original frameshift length = 6 frameshift length = 6 frameshifted sequence: atg (M) cca (P) acg (T) aag (K) cac (H) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: atg (M) atg (M) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 5 370 A 374 * 5 meninges NF2 1 c.1185_1185delA p.K396fs*30 length of cdnaseq = 1788 length of protseq = 595 1185 1185 A 1 395 3 395 3 a Total no. of codons in cdna seq = 596 gca gca start c-a post a end a-a gc- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 425 Protein length after deletion = 424 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) gag (E) gag (E) gca (A) gca (A) aaa (K) ctt (L) ctg (L) gcc (A) gag (E) gag (E) gag (E) gca (A) aac (N) ttc (F) tgg (W) original frameshift length = 31 frameshift length = 31 frameshifted sequence: gca (A) aac (N) ttc (F) tgg (W) ccc (P) aga (R) agg (R) ccg (P) cag (Q) agg (R) ctg (L) agc (S) agg (R) aaa (K) tgc (C) agc (S) gca (A) tca (S) agg (R) cca (P) cag (Q) cga (R) ttc (F) gca (A) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gca (A) gca (A) first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 30 396 K 425 * 30 meninges NF2 1 c.1191_1191delT p.L398fs*28 length of cdnaseq = 1788 length of protseq = 595 1191 1191 T 1 397 3 397 3 t Total no. of codons in cdna seq = 596 ctt ctt start t-t post c end t-c ct- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 425 Protein length after deletion = 424 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) gca (A) aaa (K) ctt (L) ctt (L) ctg (L) gcc (A) cag (Q) aag (K) gag (E) gca (A) aaa (K) ctc (L) tgg (W) ccc (P) aga (R) original frameshift length = 29 frameshift length = 29 frameshifted sequence: ctc (L) tgg (W) ccc (P) aga (R) agg (R) ccg (P) cag (Q) agg (R) ctg (L) agc (S) agg (R) aaa (K) tgc (C) agc (S) gca (A) tca (S) agg (R) cca (P) cag (Q) cga (R) ttc (F) gca (A) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctt (L) ctc (L) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 28 398 L 425 * 28 meninges NF2 1 c.1199_1199delA p.Q400fs*26 length of cdnaseq = 1788 length of protseq = 595 1199 1199 A 1 400 2 400 2 a Total no. of codons in cdna seq = 596 cag cag start c-a end a-g c-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 425 Protein length after deletion = 424 Total no. of codons in del cdnaseq = 596 last codon in array is ag ctt (L) ctg (L) gcc (A) cag (Q) cag (Q) aag (K) gcc (A) gca (A) gag (E) ctt (L) ctg (L) gcc (A) cga (R) agg (R) ccg (P) cag (Q) original frameshift length = 26 frameshift length = 26 frameshifted sequence: cga (R) agg (R) ccg (P) cag (Q) agg (R) ctg (L) agc (S) agg (R) aaa (K) tgc (C) agc (S) gca (A) tca (S) agg (R) cca (P) cag (Q) cga (R) ttc (F) gca (A) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 26 400 Q 425 * 26 meninges NF2 1 c.1223_1236del14 p.M409fs*29 length of cdnaseq = 1788 length of protseq = 595 1223 1236 14 14 408 2 412 3 aaatgcagcgcatc Total no. of codons in cdna seq = 596 gaa atc start g-a post a end c-a g-- --- frameshift deletion length of cdnaseq after deletion = 1774 ter codon is tga at posn 437 Protein length after deletion = 436 Total no. of codons in del cdnaseq = 592 last codon in array is g gct (A) gag (E) cag (Q) gaa (E) atc (I) aag (K) gcc (A) aca (T) gcg (A) gct (A) gag (E) cag (Q) gaa (E) ggc (G) cac (H) agc (S) original frameshift length = 30 frameshift length = 30 frameshifted sequence: gaa (E) ggc (G) cac (H) agc (S) gat (D) tcg (S) cac (H) gga (G) gga (G) gga (G) gaa (E) gcg (A) cct (P) gat (D) gga (G) gca (A) gaa (E) ggt (G) gct (A) gga (G) agc (S) cga (R) ggt (G) gct (A) ggc (G) act (T) gaa (E) gat (D) ggc (G) tga (TER) wild type sequence in deletion region: gaa (E) atg (M) cag (Q) cgc (R) atc (I) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 29 409 M 437 * 29 meninges NF2 1 c.1238_1238delA p.K413fs*13 length of cdnaseq = 1788 length of protseq = 595 1238 1238 A 1 413 2 413 2 a Total no. of codons in cdna seq = 596 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 425 Protein length after deletion = 424 Total no. of codons in del cdnaseq = 596 last codon in array is ag cag (Q) cgc (R) atc (I) aag (K) aag (K) gcc (A) aca (T) gcg (A) att (I) cag (Q) cgc (R) atc (I) agg (R) cca (P) cag (Q) cga (R) original frameshift length = 13 frameshift length = 13 frameshifted sequence: agg (R) cca (P) cag (Q) cga (R) ttc (F) gca (A) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 13 413 K 425 * 13 meninges NF2 1 c.1254_1254delC p.T419fs*7 length of cdnaseq = 1788 length of protseq = 595 1254 1254 C 1 418 3 418 3 c Total no. of codons in cdna seq = 596 cgc cgc start g-c post a end c-a cg- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 425 Protein length after deletion = 424 Total no. of codons in del cdnaseq = 596 last codon in array is ag aca (T) gcg (A) att (I) cgc (R) cgc (R) acg (T) gag (E) gag (E) gag (E) aca (T) gcg (A) att (I) cga (R) cgg (R) agg (R) agg (R) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cga (R) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgc (R) cga (R) first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 7 419 T 425 * 7 meninges NF2 1 c.126_126delA p.K44fs*79 length of cdnaseq = 1788 length of protseq = 595 126 126 A 1 42 3 42 3 a Total no. of codons in cdna seq = 596 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag atg (M) aag (K) tgg (W) aaa (K) aaa (K) ggg (G) aag (K) gac (D) ctc (L) atg (M) aag (K) tgg (W) aag (K) gga (G) agg (R) acc (T) original frameshift length = 81 frameshift length = 81 frameshifted sequence: aag (K) gga (G) agg (R) acc (T) tct (S) ttg (L) att (I) tgg (W) tgt (C) gcc (A) gga (G) ctc (L) tgg (W) ggc (G) tcc (S) gag (E) aaa (K) cct (P) ggt (G) tct (S) ttg (L) gac (D) tgc (C) agt (S) aca (T) caa (Q) tca (S) agg (R) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 79 44 K 122 * 79 meninges NF2 1 c.1264_1264delG p.E422fs*4 length of cdnaseq = 1788 length of protseq = 595 1264 1264 G 1 422 1 422 1 g Total no. of codons in cdna seq = 596 gag gag prev g start g-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 425 Protein length after deletion = 424 Total no. of codons in del cdnaseq = 596 last codon in array is ag acg (T) gag (E) gag (E) gag (E) gag (E) aag (K) cgc (R) ctg (L) atg (M) acg (T) gag (E) gag (E) aga (R) agc (S) gcc (A) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 4 422 E 425 * 4 meninges NF2 1 c.132_147del16 p.D45fs*73 length of cdnaseq = 1788 length of protseq = 595 132 147 16 16 44 3 49 3 ggacctctttgatttg Total no. of codons in cdna seq = 596 aag ttg start a-g post g end g-g aa- --- frameshift deletion length of cdnaseq after deletion = 1772 ter codon is taa at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 591 last codon in array is ag tgg (W) aaa (K) ggg (G) aag (K) ttg (L) gtg (V) tgc (C) cgg (R) act (T) tgg (W) aaa (K) ggg (G) aag (K) tgt (C) gcc (A) gga (G) original frameshift length = 74 frameshift length = 74 frameshifted sequence: aag (K) tgt (C) gcc (A) gga (G) ctc (L) tgg (W) ggc (G) tcc (S) gag (E) aaa (K) cct (P) ggt (G) tct (S) ttg (L) gac (D) tgc (C) agt (S) aca (T) caa (Q) tca (S) agg (R) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: aag (K) gac (D) ctc (L) ttt (F) gat (D) ttg (L) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: aag (K) aag (K) first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 73 45 D 117 * 73 meninges NF2 1 c.1332_1333delAG p.R446fs*48 length of cdnaseq = 1788 length of protseq = 595 1332 1333 AG 2 444 3 445 1 ag Total no. of codons in cdna seq = 596 tca gag start c-a end g-a tc- -ag frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 493 Protein length after deletion = 492 Total no. of codons in del cdnaseq = 596 last codon in array is g gct (A) gag (E) gag (E) tca (S) gag (E) agg (R) agg (R) gcc (A) aaa (K) gct (A) gag (E) gag (E) tca (S) gag (E) gag (E) ggc (G) original frameshift length = 50 frameshift length = 50 frameshifted sequence: tca (S) gag (E) gag (E) ggc (G) caa (Q) aga (R) ggc (G) aga (R) tca (S) gct (A) gaa (E) gca (A) gga (G) cct (P) gca (A) gga (G) agc (S) acg (T) cga (R) ggc (G) gga (G) gcg (A) aag (K) agc (S) caa (Q) gca (A) gaa (E) gct (A) cct (P) gga (G) gat (D) tgc (C) cac (H) caa (Q) gcc (A) cac (H) gta (V) ccc (P) gcc (A) cat (H) gaa (E) ccc (P) aat (N) tcc (S) agc (S) acc (T) gtt (V) gcc (A) tcc (S) tga (TER) wild type sequence in deletion region: tca (S) gag (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tca (S) tca (S) matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 48 446 R 493 * 48 meninges NF2 1 c.1332_1335delAGAG p.E445fs*9 length of cdnaseq = 1788 length of protseq = 595 1332 1335 AGAG 4 444 3 445 3 agag Total no. of codons in cdna seq = 596 tca gag start c-a post a end g-a tc- --- frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 453 Protein length after deletion = 452 Total no. of codons in del cdnaseq = 595 last codon in array is ag gct (A) gag (E) gag (E) tca (S) gag (E) agg (R) agg (R) gcc (A) aaa (K) gct (A) gag (E) gag (E) tca (S) gga (G) ggg (G) cca (P) original frameshift length = 10 frameshift length = 10 frameshifted sequence: tca (S) gga (G) ggg (G) cca (P) aag (K) agg (R) cag (Q) atc (I) agc (S) tga (TER) wild type sequence in deletion region: tca (S) gag (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tca (S) tca (S) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 9 445 E 453 * 9 meninges NF2 1 c.1333_1336delGAGA p.E445fs*9 length of cdnaseq = 1788 length of protseq = 595 1333 1336 GAGA 4 445 1 446 1 gaga Total no. of codons in cdna seq = 596 gag agg prev a start a-g end a-g --- -gg frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 453 Protein length after deletion = 452 Total no. of codons in del cdnaseq = 595 last codon in array is ag gag (E) gag (E) tca (S) gag (E) agg (R) agg (R) gcc (A) aaa (K) gag (E) gag (E) gag (E) tca (S) gga (G) ggg (G) cca (P) aag (K) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gga (G) ggg (G) cca (P) aag (K) agg (R) cag (Q) atc (I) agc (S) tga (TER) wild type sequence in deletion region: gag (E) agg (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 9 445 E 453 * 9 meninges NF2 1 c.1334_1337delAGAG p.E445fs*9 length of cdnaseq = 1788 length of protseq = 595 1334 1337 AGAG 4 445 2 446 2 agag Total no. of codons in cdna seq = 596 gag agg start g-a end g-g g-- --g frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 453 Protein length after deletion = 452 Total no. of codons in del cdnaseq = 595 last codon in array is ag gag (E) gag (E) tca (S) gag (E) agg (R) agg (R) gcc (A) aaa (K) gag (E) gag (E) gag (E) tca (S) gga (G) ggg (G) cca (P) aag (K) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gga (G) ggg (G) cca (P) aag (K) agg (R) cag (Q) atc (I) agc (S) tga (TER) wild type sequence in deletion region: gag (E) agg (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 9 445 E 453 * 9 meninges NF2 1 c.1342_1342delG p.A448fs*7 length of cdnaseq = 1788 length of protseq = 595 1342 1342 G 1 448 1 448 1 g Total no. of codons in cdna seq = 596 gcc gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 454 Protein length after deletion = 453 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) agg (R) agg (R) gcc (A) gcc (A) aaa (K) gag (E) gca (A) gat (D) gag (E) agg (R) agg (R) cca (P) aag (K) agg (R) cag (Q) original frameshift length = 7 frameshift length = 7 frameshifted sequence: cca (P) aag (K) agg (R) cag (Q) atc (I) agc (S) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 7 448 A 454 * 7 meninges NF2 1 c.1352_1352delC p.A451fs*4 length of cdnaseq = 1788 length of protseq = 595 1352 1352 C 1 451 2 451 2 c Total no. of codons in cdna seq = 596 gca gca start g-c end c-a g-- --a frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 454 Protein length after deletion = 453 Total no. of codons in del cdnaseq = 596 last codon in array is ag gcc (A) aaa (K) gag (E) gca (A) gca (A) gat (D) cag (Q) ctg (L) aag (K) gcc (A) aaa (K) gag (E) gag (E) atc (I) agc (S) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gag (E) atc (I) agc (S) tga (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 4 451 A 454 * 4 meninges NF2 1 c.1356_1356delT p.Q453fs*2 length of cdnaseq = 1788 length of protseq = 595 1356 1356 T 1 452 3 452 3 t Total no. of codons in cdna seq = 596 gat gat start a-t post c end t-c ga- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 454 Protein length after deletion = 453 Total no. of codons in del cdnaseq = 596 last codon in array is ag aaa (K) gag (E) gca (A) gat (D) gat (D) cag (Q) ctg (L) aag (K) cag (Q) aaa (K) gag (E) gca (A) gac (D) agc (S) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gac (D) agc (S) tga (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gat (D) gac (D) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 2 453 Q 454 * 2 meninges NF2 1 c.138_139delCT p.F47fs*1 length of cdnaseq = 1788 length of protseq = 595 138 139 CT 2 46 3 47 1 ct Total no. of codons in cdna seq = 596 ctc ttt start t-c end t-t ct- -tt frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 47 Protein length after deletion = 46 Total no. of codons in del cdnaseq = 596 last codon in array is g ggg (G) aag (K) gac (D) ctc (L) ttt (F) gat (D) ttg (L) gtg (V) tgc (C) ggg (G) aag (K) gac (D) ctt (L) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctt (L) tga (TER) wild type sequence in deletion region: ctc (L) ttt (F) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctc (L) ctt (L) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 1 47 F 47 * 1 meninges NF2 1 c.1389_1408del20 p.A464fs*24 length of cdnaseq = 1788 length of protseq = 595 1389 1408 20 20 463 3 470 1 ggcggagcgaagagccaagc Total no. of codons in cdna seq = 596 gag cag start a-g end c-a ga- -ag frameshift deletion length of cdnaseq after deletion = 1768 ter codon is tga at posn 487 Protein length after deletion = 486 Total no. of codons in del cdnaseq = 590 last codon in array is g gaa (E) gca (A) cgc (R) gag (E) cag (Q) aag (K) ctc (L) ctg (L) gag (E) gaa (E) gca (A) cgc (R) gaa (E) gaa (E) gct (A) cct (P) original frameshift length = 25 frameshift length = 25 frameshifted sequence: gaa (E) gaa (E) gct (A) cct (P) gga (G) gat (D) tgc (C) cac (H) caa (Q) gcc (A) cac (H) gta (V) ccc (P) gcc (A) cat (H) gaa (E) ccc (P) aat (N) tcc (S) agc (S) acc (T) gtt (V) gcc (A) tcc (S) tga (TER) wild type sequence in deletion region: gag (E) gcg (A) gag (E) cga (R) aga (R) gcc (A) aag (K) cag (Q) wt frameshift deln region length = 8 matching aa in delstart region of wt and deletion mutant: gag (E) gaa (E) first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 24 464 A 487 * 24 meninges NF2 1 c.1390_1390delG p.A464fs*21 length of cdnaseq = 1788 length of protseq = 595 1390 1390 G 1 464 1 464 1 g Total no. of codons in cdna seq = 596 gcg gcg prev g start g-g end g-c --- -cg frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag gca (A) cgc (R) gag (E) gcg (A) gcg (A) gag (E) cga (R) aga (R) gcc (A) gca (A) cgc (R) gag (E) cgg (R) agc (S) gaa (E) gag (E) original frameshift length = 21 frameshift length = 21 frameshifted sequence: cgg (R) agc (S) gaa (E) gag (E) cca (P) agc (S) aga (R) agc (S) tcc (S) tgg (W) aga (R) ttg (L) cca (P) cca (P) agc (S) cca (P) cgt (R) acc (T) cgc (R) cca (P) tga (TER) wild type sequence in deletion region: gcg (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 21 464 A 484 * 21 meninges NF2 1 c.1397_1397delG p.R466fs*19 length of cdnaseq = 1788 length of protseq = 595 1397 1397 G 1 466 2 466 2 g Total no. of codons in cdna seq = 596 cga cga start c-g end g-a c-- --a frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) gcg (A) gag (E) cga (R) cga (R) aga (R) gcc (A) aag (K) cag (Q) gag (E) gcg (A) gag (E) caa (Q) gag (E) cca (P) agc (S) original frameshift length = 19 frameshift length = 19 frameshifted sequence: caa (Q) gag (E) cca (P) agc (S) aga (R) agc (S) tcc (S) tgg (W) aga (R) ttg (L) cca (P) cca (P) agc (S) cca (P) cgt (R) acc (T) cgc (R) cca (P) tga (TER) wild type sequence in deletion region: cga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 19 466 R 484 * 19 meninges NF2 1 c.141_141delT p.F47fs*76 length of cdnaseq = 1788 length of protseq = 595 141 141 T 1 47 3 47 3 t Total no. of codons in cdna seq = 596 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) gac (D) ctc (L) ttt (F) ttt (F) gat (D) ttg (L) gtg (V) tgc (C) aag (K) gac (D) ctc (L) ttg (L) att (I) tgg (W) tgt (C) original frameshift length = 76 frameshift length = 76 frameshifted sequence: ttg (L) att (I) tgg (W) tgt (C) gcc (A) gga (G) ctc (L) tgg (W) ggc (G) tcc (S) gag (E) aaa (K) cct (P) ggt (G) tct (S) ttg (L) gac (D) tgc (C) agt (S) aca (T) caa (Q) tca (S) agg (R) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 76 47 F 122 * 76 meninges NF2 1 c.1435_1435delC p.T480fs*5 length of cdnaseq = 1788 length of protseq = 595 1435 1435 C 1 479 1 479 1 c Total no. of codons in cdna seq = 596 ccc ccc prev g start g-c end c-c --- -cc frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag gcc (A) acc (T) aag (K) ccc (P) ccc (P) acg (T) tac (Y) ccg (P) ccc (P) gcc (A) acc (T) aag (K) cca (P) cgt (R) acc (T) cgc (R) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cca (P) cgt (R) acc (T) cgc (R) cca (P) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 5 480 T 484 * 5 meninges NF2 1 c.1443_1443delC p.P482fs*3 length of cdnaseq = 1788 length of protseq = 595 1443 1443 C 1 481 3 481 3 c Total no. of codons in cdna seq = 596 tac tac start a-c post c end c-c ta- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) ccc (P) acg (T) tac (Y) tac (Y) ccg (P) ccc (P) atg (M) aac (N) aag (K) ccc (P) acg (T) tac (Y) cgc (R) cca (P) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tac (Y) cgc (R) cca (P) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tac (Y) tac (Y) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 3 482 P 484 * 3 meninges NF2 1 c.1445_1445delC p.P482fs*3 length of cdnaseq = 1788 length of protseq = 595 1445 1445 C 1 482 2 482 2 c Total no. of codons in cdna seq = 596 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag ccc (P) acg (T) tac (Y) ccg (P) ccg (P) ccc (P) atg (M) aac (N) cca (P) ccc (P) acg (T) tac (Y) cgc (R) cca (P) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cgc (R) cca (P) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 3 482 P 484 * 3 meninges NF2 1 c.1474_1478delCCTCC p.P492fs*1 length of cdnaseq = 1788 length of protseq = 595 1474 1478 CCTCC 5 492 1 493 2 cctcc Total no. of codons in cdna seq = 596 cct cct prev g start g-c end c-t --- --t frameshift deletion length of cdnaseq after deletion = 1783 ter codon is tga at posn 492 Protein length after deletion = 491 Total no. of codons in del cdnaseq = 595 last codon in array is g gca (A) ccg (P) ttg (L) cct (P) cct (P) gac (D) ata (I) cca (P) agc (S) gca (A) ccg (P) ttg (L) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: cct (P) cct (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 1 492 P 492 * 1 meninges NF2 1 c.1519_1520delTT p.F507fs*6 length of cdnaseq = 1788 length of protseq = 595 1519 1520 TT 2 507 1 507 2 tt Total no. of codons in cdna seq = 596 ttc ttc prev t start t-t end t-c --- --c frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 512 Protein length after deletion = 511 Total no. of codons in del cdnaseq = 596 last codon in array is g agc (S) ctg (L) tct (S) ttc (F) ttc (F) gac (D) ttc (F) aaa (K) gat (D) agc (S) ctg (L) tct (S) cga (R) ctt (L) caa (Q) aga (R) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cga (R) ctt (L) caa (Q) aga (R) tac (Y) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 6 507 F 512 * 6 meninges NF2 1 c.1519_1528del10 p.F507fs*5 length of cdnaseq = 1788 length of protseq = 595 1519 1528 10 10 507 1 510 1 ttcgacttca Total no. of codons in cdna seq = 596 ttc aaa prev t start t-t end a-a --- -aa frameshift deletion length of cdnaseq after deletion = 1778 ter codon is tga at posn 511 Protein length after deletion = 510 Total no. of codons in del cdnaseq = 593 last codon in array is ag agc (S) ctg (L) tct (S) ttc (F) aaa (K) gat (D) act (T) gac (D) atg (M) agc (S) ctg (L) tct (S) aag (K) ata (I) ctg (L) aca (T) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aag (K) ata (I) ctg (L) aca (T) tga (TER) wild type sequence in deletion region: ttc (F) gac (D) ttc (F) aaa (K) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 5 507 F 511 * 5 meninges NF2 1 c.153_153delC p.R52fs*71 length of cdnaseq = 1788 length of protseq = 595 153 153 C 1 51 3 51 3 c Total no. of codons in cdna seq = 596 tgc tgc start g-c post c end c-c tg- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag gat (D) ttg (L) gtg (V) tgc (C) tgc (C) cgg (R) act (T) ctg (L) ggg (G) gat (D) ttg (L) gtg (V) tgc (C) gga (G) ctc (L) tgg (W) original frameshift length = 72 frameshift length = 72 frameshifted sequence: tgc (C) gga (G) ctc (L) tgg (W) ggc (G) tcc (S) gag (E) aaa (K) cct (P) ggt (G) tct (S) ttg (L) gac (D) tgc (C) agt (S) aca (T) caa (Q) tca (S) agg (R) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: tgc (C) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tgc (C) tgc (C) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 71 52 R 122 * 71 meninges NF2 1 c.153_165del13 p.R52fs*67 length of cdnaseq = 1788 length of protseq = 595 153 165 13 13 51 3 55 3 ccggactctgggg Total no. of codons in cdna seq = 596 tgc ggg start g-c post c end g-c tg- --- frameshift deletion length of cdnaseq after deletion = 1775 ter codon is taa at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 592 last codon in array is ag gat (D) ttg (L) gtg (V) tgc (C) ggg (G) ctc (L) cga (R) gaa (E) acc (T) gat (D) ttg (L) gtg (V) tgc (C) tcc (S) gag (E) aaa (K) original frameshift length = 68 frameshift length = 68 frameshifted sequence: tgc (C) tcc (S) gag (E) aaa (K) cct (P) ggt (G) tct (S) ttg (L) gac (D) tgc (C) agt (S) aca (T) caa (Q) tca (S) agg (R) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: tgc (C) cgg (R) act (T) ctg (L) ggg (G) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: tgc (C) tgc (C) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 67 52 R 118 * 67 meninges NF2 1 c.154_154delC p.R52fs*71 length of cdnaseq = 1788 length of protseq = 595 154 154 C 1 52 1 52 1 c Total no. of codons in cdna seq = 596 cgg cgg prev c start c-c end c-g --- -gg frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag ttg (L) gtg (V) tgc (C) cgg (R) cgg (R) act (T) ctg (L) ggg (G) ctc (L) ttg (L) gtg (V) tgc (C) gga (G) ctc (L) tgg (W) ggc (G) original frameshift length = 71 frameshift length = 71 frameshifted sequence: gga (G) ctc (L) tgg (W) ggc (G) tcc (S) gag (E) aaa (K) cct (P) ggt (G) tct (S) ttg (L) gac (D) tgc (C) agt (S) aca (T) caa (Q) tca (S) agg (R) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 71 52 R 122 * 71 meninges NF2 1 c.1579_1582delGAAT p.E527fs*22 length of cdnaseq = 1788 length of protseq = 595 1579 1582 GAAT 4 527 1 528 1 gaat Total no. of codons in cdna seq = 596 gaa tac prev g start g-g end t-a --- -ac frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 548 Protein length after deletion = 547 Total no. of codons in del cdnaseq = 595 last codon in array is ag gaa (E) aaa (K) gtg (V) gaa (E) tac (Y) atg (M) gaa (E) aag (K) agc (S) gaa (E) aaa (K) gtg (V) aca (T) tgg (W) aaa (K) aga (R) original frameshift length = 22 frameshift length = 22 frameshifted sequence: aca (T) tgg (W) aaa (K) aga (R) gca (A) agc (S) atc (I) tgc (C) agg (R) agc (S) agc (S) tca (S) atg (M) aac (N) tca (S) aga (R) cag (Q) aaa (K) tcg (S) agg (R) cct (P) tga (TER) wild type sequence in deletion region: gaa (E) tac (Y) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 22 527 E 548 * 22 meninges NF2 1 c.165_165delG p.L56fs*67 length of cdnaseq = 1788 length of protseq = 595 165 165 G 1 55 3 55 3 g Total no. of codons in cdna seq = 596 ggg ggg start g-g post c end g-c gg- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag cgg (R) act (T) ctg (L) ggg (G) ggg (G) ctc (L) cga (R) gaa (E) acc (T) cgg (R) act (T) ctg (L) ggc (G) tcc (S) gag (E) aaa (K) original frameshift length = 68 frameshift length = 68 frameshifted sequence: ggc (G) tcc (S) gag (E) aaa (K) cct (P) ggt (G) tct (S) ttg (L) gac (D) tgc (C) agt (S) aca (T) caa (Q) tca (S) agg (R) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) ggc (G) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 67 56 L 122 * 67 meninges NF2 1 c.173_173delA p.T59fs*64 length of cdnaseq = 1788 length of protseq = 595 173 173 A 1 58 2 58 2 a Total no. of codons in cdna seq = 596 gaa gaa start g-a end a-a g-- --a frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag ggg (G) ctc (L) cga (R) gaa (E) gaa (E) acc (T) tgg (W) ttc (F) ttt (F) ggg (G) ctc (L) cga (R) gaa (E) cct (P) ggt (G) tct (S) original frameshift length = 65 frameshift length = 65 frameshifted sequence: gaa (E) cct (P) ggt (G) tct (S) ttg (L) gac (D) tgc (C) agt (S) aca (T) caa (Q) tca (S) agg (R) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 64 59 T 122 * 64 meninges NF2 1 c.209_209delA p.D70fs*53 length of cdnaseq = 1788 length of protseq = 595 209 209 A 1 70 2 70 2 a Total no. of codons in cdna seq = 596 gac gac start g-a end a-c g-- --c frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag aca (T) atc (I) aag (K) gac (D) gac (D) aca (T) gtg (V) gcc (A) tgg (W) aca (T) atc (I) aag (K) gca (A) cag (Q) tgg (W) cct (P) original frameshift length = 53 frameshift length = 53 frameshifted sequence: gca (A) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 53 70 D 122 * 53 meninges NF2 1 c.227_240del14 p.K76fs*5 length of cdnaseq = 1788 length of protseq = 595 227 240 14 14 76 2 80 3 aaatggacaagaag Total no. of codons in cdna seq = 596 aaa aag start a-a post g end g-g a-- --- frameshift deletion length of cdnaseq after deletion = 1774 ter codon is tga at posn 80 Protein length after deletion = 79 Total no. of codons in del cdnaseq = 592 last codon in array is g gcc (A) tgg (W) ctc (L) aaa (K) aag (K) gta (V) ctg (L) gat (D) cat (H) gcc (A) tgg (W) ctc (L) agt (S) act (T) gga (G) tca (S) original frameshift length = 5 frameshift length = 5 frameshifted sequence: agt (S) act (T) gga (G) tca (S) tga (TER) wild type sequence in deletion region: aaa (K) atg (M) gac (D) aag (K) aag (K) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 5 76 K 80 * 5 meninges NF2 1 c.234_234delC p.D78fs*45 length of cdnaseq = 1788 length of protseq = 595 234 234 C 1 78 3 78 3 c Total no. of codons in cdna seq = 596 gac gac start a-c post a end c-a ga- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag ctc (L) aaa (K) atg (M) gac (D) gac (D) aag (K) aag (K) gta (V) ctg (L) ctc (L) aaa (K) atg (M) gaa (E) aga (R) agg (R) tac (Y) original frameshift length = 45 frameshift length = 45 frameshifted sequence: gaa (E) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 45 78 D 122 * 45 meninges NF2 1 c.241_242delGT p.V81fs*4 length of cdnaseq = 1788 length of protseq = 595 241 242 GT 2 81 1 81 2 gt Total no. of codons in cdna seq = 596 gta gta prev g start g-g end t-a --- --a frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 84 Protein length after deletion = 83 Total no. of codons in del cdnaseq = 596 last codon in array is g gac (D) aag (K) aag (K) gta (V) gta (V) ctg (L) gat (D) cat (H) gat (D) gac (D) aag (K) aag (K) act (T) gga (G) tca (S) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: act (T) gga (G) tca (S) tga (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 4 81 V 84 * 4 meninges NF2 1 c.249_249delT p.H84fs*39 length of cdnaseq = 1788 length of protseq = 595 249 249 T 1 83 3 83 3 t Total no. of codons in cdna seq = 596 gat gat start a-t post c end t-c ga- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) gta (V) ctg (L) gat (D) gat (D) cat (H) gat (D) gtt (V) tca (S) aag (K) gta (V) ctg (L) gac (D) atg (M) atg (M) ttt (F) original frameshift length = 40 frameshift length = 40 frameshifted sequence: gac (D) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gat (D) gac (D) first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 39 84 H 122 * 39 meninges NF2 1 c.257_257delT p.S87fs*36 length of cdnaseq = 1788 length of protseq = 595 257 257 T 1 86 2 86 2 t Total no. of codons in cdna seq = 596 gtt gtt start g-t end t-t g-- --t frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag gat (D) cat (H) gat (D) gtt (V) gtt (V) tca (S) aag (K) gaa (E) gaa (E) gat (D) cat (H) gat (D) gtt (V) caa (Q) agg (R) aag (K) original frameshift length = 37 frameshift length = 37 frameshifted sequence: gtt (V) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gtt (V) gtt (V) first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 36 87 S 122 * 36 meninges NF2 1 c.265_265delG p.E89fs*34 length of cdnaseq = 1788 length of protseq = 595 265 265 G 1 89 1 89 1 g Total no. of codons in cdna seq = 596 gaa gaa prev g start g-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag gtt (V) tca (S) aag (K) gaa (E) gaa (E) gaa (E) cca (P) gtc (V) acc (T) gtt (V) tca (S) aag (K) aag (K) aac (N) cag (Q) tca (S) original frameshift length = 34 frameshift length = 34 frameshifted sequence: aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 34 89 E 122 * 34 meninges NF2 1 c.271_271delC p.P91fs*32 length of cdnaseq = 1788 length of protseq = 595 271 271 C 1 91 1 91 1 c Total no. of codons in cdna seq = 596 cca cca prev a start a-c end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) gaa (E) gaa (E) cca (P) cca (P) gtc (V) acc (T) ttt (F) cac (H) aag (K) gaa (E) gaa (E) cag (Q) tca (S) cct (P) ttc (F) original frameshift length = 32 frameshift length = 32 frameshifted sequence: cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 32 91 P 122 * 32 meninges NF2 1 c.286_298del13 p.L97fs*22 length of cdnaseq = 1788 length of protseq = 595 286 298 13 13 96 1 100 1 ttcttggccaaat Total no. of codons in cdna seq = 596 ttc ttt prev c start c-t end t-t --- -tt frameshift deletion length of cdnaseq after deletion = 1775 ter codon is taa at posn 118 Protein length after deletion = 117 Total no. of codons in del cdnaseq = 592 last codon in array is ag acc (T) ttt (F) cac (H) ttc (F) ttt (F) tat (Y) cct (P) gag (E) aat (N) acc (T) ttt (F) cac (H) ttt (F) atc (I) ctg (L) aga (R) original frameshift length = 23 frameshift length = 23 frameshifted sequence: ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: ttc (F) ttg (L) gcc (A) aaa (K) ttt (F) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: ttc (F) ttt (F) first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 22 97 L 118 * 22 meninges NF2 1 c.301_301delT p.Y101fs*22 length of cdnaseq = 1788 length of protseq = 595 301 301 T 1 101 1 101 1 t Total no. of codons in cdna seq = 596 tat tat prev t start t-t end t-a --- -at frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag gcc (A) aaa (K) ttt (F) tat (Y) tat (Y) cct (P) gag (E) aat (N) gct (A) gcc (A) aaa (K) ttt (F) atc (I) ctg (L) aga (R) atg (M) original frameshift length = 22 frameshift length = 22 frameshifted sequence: atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 22 101 Y 122 * 22 meninges NF2 1 c.346_346delC p.H116fs*7 length of cdnaseq = 1788 length of protseq = 595 346 346 C 1 116 1 116 1 c Total no. of codons in cdna seq = 596 cat cat prev a start a-c end c-a --- -at frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag atc (I) aca (T) caa (Q) cat (H) cat (H) tta (L) ttc (F) ttc (F) tta (L) atc (I) aca (T) caa (Q) att (I) tat (Y) tct (S) tct (S) original frameshift length = 7 frameshift length = 7 frameshifted sequence: att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 7 116 H 122 * 7 meninges NF2 1 c.346_347delCA p.H116fs*13 length of cdnaseq = 1788 length of protseq = 595 346 347 CA 2 116 1 116 2 ca Total no. of codons in cdna seq = 596 cat cat prev a start a-c end a-t --- --t frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 128 Protein length after deletion = 127 Total no. of codons in del cdnaseq = 596 last codon in array is g atc (I) aca (T) caa (Q) cat (H) cat (H) tta (L) ttc (F) ttc (F) tta (L) atc (I) aca (T) caa (Q) ttt (F) att (I) ctt (L) ctt (L) original frameshift length = 13 frameshift length = 13 frameshifted sequence: ttt (F) att (I) ctt (L) ctt (L) aca (T) ggt (G) aaa (K) gaa (E) gca (A) gat (D) ttt (F) aga (R) tga (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 13 116 H 128 * 13 meninges NF2 1 c.347_347delA p.H116fs*7 length of cdnaseq = 1788 length of protseq = 595 347 347 A 1 116 2 116 2 a Total no. of codons in cdna seq = 596 cat cat start c-a end a-t c-- --t frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag atc (I) aca (T) caa (Q) cat (H) cat (H) tta (L) ttc (F) ttc (F) tta (L) atc (I) aca (T) caa (Q) ctt (L) tat (Y) tct (S) tct (S) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ctt (L) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 7 116 H 122 * 7 meninges NF2 1 c.355_359delTTCTT p.F119fs*9 length of cdnaseq = 1788 length of protseq = 595 355 359 TTCTT 5 119 1 120 2 ttctt Total no. of codons in cdna seq = 596 ttc tta prev c start c-t end t-a --- --a frameshift deletion length of cdnaseq after deletion = 1783 ter codon is tga at posn 127 Protein length after deletion = 126 Total no. of codons in del cdnaseq = 595 last codon in array is g cat (H) tta (L) ttc (F) ttc (F) tta (L) cag (Q) gta (V) aag (K) aag (K) cat (H) tta (L) ttc (F) aca (T) ggt (G) aaa (K) gaa (E) original frameshift length = 9 frameshift length = 9 frameshifted sequence: aca (T) ggt (G) aaa (K) gaa (E) gca (A) gat (D) ttt (F) aga (R) tga (TER) wild type sequence in deletion region: ttc (F) tta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 9 119 F 127 * 9 meninges NF2 1 c.385_385delG p.E129fs*45 length of cdnaseq = 1788 length of protseq = 595 385 385 G 1 129 1 129 1 g Total no. of codons in cdna seq = 596 gaa gaa prev t start t-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag att (I) tta (L) gat (D) gaa (E) gaa (E) aag (K) atc (I) tac (Y) tgc (C) att (I) tta (L) gat (D) aaa (K) aga (R) tct (S) act (T) original frameshift length = 45 frameshift length = 45 frameshifted sequence: aaa (K) aga (R) tct (S) act (T) gcc (A) ctc (L) ctg (L) agg (R) ctt (L) ctg (L) tgc (C) tcc (S) tgg (W) ctt (L) ctt (L) acg (T) ccg (P) tcc (S) agg (R) cca (P) agt (S) atg (M) gtg (V) act (T) acg (T) acc (T) cca (P) gtg (V) ttc (F) aca (T) agc (S) ggg (G) gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 45 129 E 173 * 45 meninges NF2 1 c.389_389delA p.K130fs*44 length of cdnaseq = 1788 length of protseq = 595 389 389 A 1 130 2 130 2 a Total no. of codons in cdna seq = 596 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag tta (L) gat (D) gaa (E) aag (K) aag (K) atc (I) tac (Y) tgc (C) cct (P) tta (L) gat (D) gaa (E) aga (R) tct (S) act (T) gcc (A) original frameshift length = 44 frameshift length = 44 frameshifted sequence: aga (R) tct (S) act (T) gcc (A) ctc (L) ctg (L) agg (R) ctt (L) ctg (L) tgc (C) tcc (S) tgg (W) ctt (L) ctt (L) acg (T) ccg (P) tcc (S) agg (R) cca (P) agt (S) atg (M) gtg (V) act (T) acg (T) acc (T) cca (P) gtg (V) ttc (F) aca (T) agc (S) ggg (G) gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 44 130 K 173 * 44 meninges NF2 1 c.429_432delTTAC p.Y144fs*29 length of cdnaseq = 1788 length of protseq = 595 429 432 TTAC 4 143 3 144 3 ttac Total no. of codons in cdna seq = 596 tct tac start c-t post g end c-g tc- --- frameshift deletion length of cdnaseq after deletion = 1784 ter codon is taa at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 595 last codon in array is ag ctc (L) ctg (L) gct (A) tct (S) tac (Y) gcc (A) gtc (V) cag (Q) gcc (A) ctc (L) ctg (L) gct (A) tcg (S) ccg (P) tcc (S) agg (R) original frameshift length = 30 frameshift length = 30 frameshifted sequence: tcg (S) ccg (P) tcc (S) agg (R) cca (P) agt (S) atg (M) gtg (V) act (T) acg (T) acc (T) cca (P) gtg (V) ttc (F) aca (T) agc (S) ggg (G) gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: tct (S) tac (Y) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tct (S) tcg (S) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 29 144 Y 172 * 29 meninges NF2 1 c.448_467del20 p.Y150fs*46 length of cdnaseq = 1788 length of protseq = 595 448 467 20 20 150 1 156 2 tatggtgactacgaccccag Total no. of codons in cdna seq = 596 tat agt prev g start g-t end g-t --- --t frameshift deletion length of cdnaseq after deletion = 1768 ter codon is tga at posn 195 Protein length after deletion = 194 Total no. of codons in del cdnaseq = 590 last codon in array is g cag (Q) gcc (A) aag (K) tat (Y) agt (S) gtt (V) cac (H) aag (K) cgg (R) cag (Q) gcc (A) aag (K) tgt (C) tca (S) caa (Q) gcg (A) original frameshift length = 46 frameshift length = 46 frameshifted sequence: tgt (C) tca (S) caa (Q) gcg (A) ggg (G) att (I) ttt (F) ggc (G) cca (P) aga (R) gga (G) att (I) gct (A) tcc (S) aaa (K) aag (K) ggt (G) aat (N) aaa (K) tct (S) gta (V) tca (S) gat (D) gac (D) tcc (S) gga (G) aat (N) gtg (V) gga (G) gga (G) gag (E) aat (N) tac (Y) tgc (C) ttg (L) gta (V) cgc (R) aga (R) gca (A) ccg (P) agg (R) ccg (P) agc (S) cag (Q) gga (G) tga (TER) wild type sequence in deletion region: tat (Y) ggt (G) gac (D) tac (Y) gac (D) ccc (P) agt (S) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 46 150 Y 195 * 46 meninges NF2 1 c.459_459delC p.Y153fs*1 length of cdnaseq = 1788 length of protseq = 595 459 459 C 1 153 3 153 3 c Total no. of codons in cdna seq = 596 tac tac start a-c post g end c-g ta- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tag at posn 153 Protein length after deletion = 152 Total no. of codons in del cdnaseq = 596 last codon in array is ag tat (Y) ggt (G) gac (D) tac (Y) tac (Y) gac (D) ccc (P) agt (S) gtt (V) tat (Y) ggt (G) gac (D) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 1 153 Y 153 * 1 meninges NF2 1 c.488_488delT p.L163fs*11 length of cdnaseq = 1788 length of protseq = 595 488 488 T 1 163 2 163 2 t Total no. of codons in cdna seq = 596 ttg ttg start t-t end t-g t-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag cgg (R) gga (G) ttt (F) ttg (L) ttg (L) gcc (A) caa (Q) gag (E) gaa (E) cgg (R) gga (G) ttt (F) tgg (W) ccc (P) aag (K) agg (R) original frameshift length = 11 frameshift length = 11 frameshifted sequence: tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: ttg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 11 163 L 173 * 11 meninges NF2 1 c.493_493delC p.Q165fs*9 length of cdnaseq = 1788 length of protseq = 595 493 493 C 1 165 1 165 1 c Total no. of codons in cdna seq = 596 caa caa prev c start c-c end c-a --- -aa frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag ttt (F) ttg (L) gcc (A) caa (Q) caa (Q) gag (E) gaa (E) ttg (L) ctt (L) ttt (F) ttg (L) gcc (A) aag (K) agg (R) aat (N) tgc (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: caa (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 9 165 Q 173 * 9 meninges NF2 1 c.496_497delGA p.E166fs*36 length of cdnaseq = 1788 length of protseq = 595 496 497 GA 2 166 1 166 2 ga Total no. of codons in cdna seq = 596 gag gag prev a start a-g end a-g --- --g frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 596 last codon in array is g ttg (L) gcc (A) caa (Q) gag (E) gag (E) gaa (E) ttg (L) ctt (L) cca (P) ttg (L) gcc (A) caa (Q) gga (G) att (I) gct (A) tcc (S) original frameshift length = 36 frameshift length = 36 frameshifted sequence: gga (G) att (I) gct (A) tcc (S) aaa (K) aag (K) ggt (G) aat (N) aaa (K) tct (S) gta (V) tca (S) gat (D) gac (D) tcc (S) gga (G) aat (N) gtg (V) gga (G) gga (G) gag (E) aat (N) tac (Y) tgc (C) ttg (L) gta (V) cgc (R) aga (R) gca (A) ccg (P) agg (R) ccg (P) agc (S) cag (Q) gga (G) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 36 166 E 201 * 36 meninges NF2 1 c.541_541delC p.P181fs*28 length of cdnaseq = 1788 length of protseq = 595 541 541 C 1 181 1 181 1 c Total no. of codons in cdna seq = 596 ccg ccg prev t start t-c end c-c --- -cg frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 208 Protein length after deletion = 207 Total no. of codons in del cdnaseq = 596 last codon in array is ag cag (Q) atg (M) act (T) ccg (P) ccg (P) gaa (E) atg (M) tgg (W) gag (E) cag (Q) atg (M) act (T) cgg (R) aaa (K) tgt (C) ggg (G) original frameshift length = 28 frameshift length = 28 frameshifted sequence: cgg (R) aaa (K) tgt (C) ggg (G) agg (R) aga (R) gaa (E) tta (L) ctg (L) ctt (L) ggt (G) acg (T) cag (Q) agc (S) acc (T) gag (E) gcc (A) gag (E) cca (P) ggg (G) atg (M) aag (K) ctg (L) aaa (K) tgg (W) aat (N) atc (I) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 28 181 P 208 * 28 meninges NF2 1 c.562_565delATTA p.I188fs*20 length of cdnaseq = 1788 length of protseq = 595 562 565 ATTA 4 188 1 189 1 atta Total no. of codons in cdna seq = 596 att act prev a start a-a end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 207 Protein length after deletion = 206 Total no. of codons in del cdnaseq = 595 last codon in array is ag gag (E) gag (E) aga (R) att (I) act (T) gct (A) tgg (W) tac (Y) gca (A) gag (E) gag (E) aga (R) ctg (L) ctt (L) ggt (G) acg (T) original frameshift length = 20 frameshift length = 20 frameshifted sequence: ctg (L) ctt (L) ggt (G) acg (T) cag (Q) agc (S) acc (T) gag (E) gcc (A) gag (E) cca (P) ggg (G) atg (M) aag (K) ctg (L) aaa (K) tgg (W) aat (N) atc (I) tga (TER) wild type sequence in deletion region: att (I) act (T) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 20 188 I 207 * 20 meninges NF2 1 c.563_564delTT p.I188fs*14 length of cdnaseq = 1788 length of protseq = 595 563 564 TT 2 188 2 188 3 tt Total no. of codons in cdna seq = 596 att att start a-t post a end t-a a-- --- frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 596 last codon in array is g gag (E) gag (E) aga (R) att (I) att (I) act (T) gct (A) tgg (W) tac (Y) gag (E) gag (E) aga (R) aac (N) tgc (C) ttg (L) gta (V) original frameshift length = 14 frameshift length = 14 frameshifted sequence: aac (N) tgc (C) ttg (L) gta (V) cgc (R) aga (R) gca (A) ccg (P) agg (R) ccg (P) agc (S) cag (Q) gga (G) tga (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 14 188 I 201 * 14 meninges NF2 1 c.563_576del14 p.I188fs*10 length of cdnaseq = 1788 length of protseq = 595 563 576 14 14 188 2 192 3 ttactgcttggtac Total no. of codons in cdna seq = 596 att tac start a-t post g end c-g a-- --- frameshift deletion length of cdnaseq after deletion = 1774 ter codon is tga at posn 197 Protein length after deletion = 196 Total no. of codons in del cdnaseq = 592 last codon in array is g gag (E) gag (E) aga (R) att (I) tac (Y) gca (A) gag (E) cac (H) cga (R) gag (E) gag (E) aga (R) agc (S) aga (R) gca (A) ccg (P) original frameshift length = 10 frameshift length = 10 frameshifted sequence: agc (S) aga (R) gca (A) ccg (P) agg (R) ccg (P) agc (S) cag (Q) gga (G) tga (TER) wild type sequence in deletion region: att (I) act (T) gct (A) tgg (W) tac (Y) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 10 188 I 197 * 10 meninges NF2 1 c.592_593delCG p.R198fs*4 length of cdnaseq = 1788 length of protseq = 595 592 593 CG 2 198 1 198 2 cg Total no. of codons in cdna seq = 596 cga cga prev c start c-c end g-a --- --a frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 596 last codon in array is g cac (H) cga (R) ggc (G) cga (R) cga (R) gcc (A) agg (R) gat (D) gaa (E) cac (H) cga (R) ggc (G) agc (S) cag (Q) gga (G) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: agc (S) cag (Q) gga (G) tga (TER) wild type sequence in deletion region: cga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 4 198 R 201 * 4 meninges NF2 1 c.610_610delG p.E204fs*5 length of cdnaseq = 1788 length of protseq = 595 610 610 G 1 204 1 204 1 g Total no. of codons in cdna seq = 596 gaa gaa prev t start t-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 208 Protein length after deletion = 207 Total no. of codons in del cdnaseq = 596 last codon in array is ag gat (D) gaa (E) gct (A) gaa (E) gaa (E) atg (M) gaa (E) tat (Y) ctg (L) gat (D) gaa (E) gct (A) aaa (K) tgg (W) aat (N) atc (I) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aaa (K) tgg (W) aat (N) atc (I) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 5 204 E 208 * 5 meninges NF2 1 c.61_85del25 p.T21fs*11 length of cdnaseq = 1788 length of protseq = 595 61 85 25 25 21 1 29 1 acgttcaccgtgaggatcgtcacca Total no. of codons in cdna seq = 596 acg atg prev g start g-a end a-t --- -tg frameshift deletion length of cdnaseq after deletion = 1763 ter codon is tga at posn 31 Protein length after deletion = 30 Total no. of codons in del cdnaseq = 588 last codon in array is ag caa (Q) ccc (P) aag (K) acg (T) atg (M) gac (D) gcc (A) gag (E) atg (M) caa (Q) ccc (P) aag (K) tgg (W) acg (T) ccg (P) aga (R) original frameshift length = 11 frameshift length = 11 frameshifted sequence: tgg (W) acg (T) ccg (P) aga (R) tgg (W) agt (S) tca (S) att (I) gcg (A) aga (R) tga (TER) wild type sequence in deletion region: acg (T) ttc (F) acc (T) gtg (V) agg (R) atc (I) gtc (V) acc (T) atg (M) wt frameshift deln region length = 9 first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 11 21 T 31 * 11 meninges NF2 1 c.618_619delAT p.Y207fs*20 length of cdnaseq = 1788 length of protseq = 595 618 619 AT 2 206 3 207 1 at Total no. of codons in cdna seq = 596 gaa tat start a-a end t-a ga- -at frameshift deletion length of cdnaseq after deletion = 1786 ter codon is taa at posn 226 Protein length after deletion = 225 Total no. of codons in del cdnaseq = 596 last codon in array is g gct (A) gaa (E) atg (M) gaa (E) tat (Y) ctg (L) aag (K) ata (I) gct (A) gct (A) gaa (E) atg (M) gaa (E) tct (S) gaa (E) gat (D) original frameshift length = 21 frameshift length = 21 frameshifted sequence: gaa (E) tct (S) gaa (E) gat (D) agc (S) tca (S) gga (G) cct (P) gga (G) gat (D) gta (V) cgg (R) tgt (C) gaa (E) cta (L) ctt (L) tgc (C) aat (N) ccg (P) gaa (E) taa (TER) wild type sequence in deletion region: gaa (E) tat (Y) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 20 207 Y 226 * 20 meninges NF2 1 c.619_620delTA p.Y207fs*20 length of cdnaseq = 1788 length of protseq = 595 619 620 TA 2 207 1 207 2 ta Total no. of codons in cdna seq = 596 tat tat prev a start a-t end a-t --- --t frameshift deletion length of cdnaseq after deletion = 1786 ter codon is taa at posn 226 Protein length after deletion = 225 Total no. of codons in del cdnaseq = 596 last codon in array is g gaa (E) atg (M) gaa (E) tat (Y) tat (Y) ctg (L) aag (K) ata (I) gct (A) gaa (E) atg (M) gaa (E) tct (S) gaa (E) gat (D) agc (S) original frameshift length = 20 frameshift length = 20 frameshifted sequence: tct (S) gaa (E) gat (D) agc (S) tca (S) gga (G) cct (P) gga (G) gat (D) gta (V) cgg (R) tgt (C) gaa (E) cta (L) ctt (L) tgc (C) aat (N) ccg (P) gaa (E) taa (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 20 207 Y 226 * 20 meninges NF2 1 c.62_62delC p.T21fs*4 length of cdnaseq = 1788 length of protseq = 595 62 62 C 1 21 2 21 2 c Total no. of codons in cdna seq = 596 acg acg start a-c end c-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 24 Protein length after deletion = 23 Total no. of codons in del cdnaseq = 596 last codon in array is ag caa (Q) ccc (P) aag (K) acg (T) acg (T) ttc (F) acc (T) gtg (V) agg (R) caa (Q) ccc (P) aag (K) agt (S) tca (S) ccg (P) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: agt (S) tca (S) ccg (P) tga (TER) wild type sequence in deletion region: acg (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 4 21 T 24 * 4 meninges NF2 1 c.650_650delA p.Y217fs*3 length of cdnaseq = 1788 length of protseq = 595 650 650 A 1 217 2 217 2 a Total no. of codons in cdna seq = 596 tac tac start t-a end a-c t-- --c frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 219 Protein length after deletion = 218 Total no. of codons in del cdnaseq = 596 last codon in array is ag ctg (L) gag (E) atg (M) tac (Y) tac (Y) ggt (G) gtg (V) aac (N) tac (Y) ctg (L) gag (E) atg (M) tcg (S) gtg (V) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tcg (S) gtg (V) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 3 217 Y 219 * 3 meninges NF2 1 c.659_665delACTACTT p.N220fs*29 length of cdnaseq = 1788 length of protseq = 595 659 665 ACTACTT 7 220 2 222 2 actactt Total no. of codons in cdna seq = 596 aac ttt start a-a end t-t a-- --t frameshift deletion length of cdnaseq after deletion = 1781 ter codon is tga at posn 248 Protein length after deletion = 247 Total no. of codons in del cdnaseq = 594 last codon in array is ag tac (Y) ggt (G) gtg (V) aac (N) ttt (F) gca (A) atc (I) cgg (R) aat (N) tac (Y) ggt (G) gtg (V) atg (M) caa (Q) tcc (S) gga (G) original frameshift length = 29 frameshift length = 29 frameshifted sequence: atg (M) caa (Q) tcc (S) gga (G) ata (I) aaa (K) agg (R) gca (A) cag (Q) agc (S) tgc (C) tgc (C) ttg (L) gag (E) tgg (W) atg (M) ccc (P) tgg (W) ggc (G) ttc (F) aca (T) ttt (F) atg (M) acc (T) ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: aac (N) tac (Y) ttt (F) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 29 220 N 248 * 29 meninges NF2 1 c.661_661delT p.Y221fs*30 length of cdnaseq = 1788 length of protseq = 595 661 661 T 1 221 1 221 1 t Total no. of codons in cdna seq = 596 tac tac prev c start c-t end t-a --- -ac frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 596 last codon in array is ag ggt (G) gtg (V) aac (N) tac (Y) tac (Y) ttt (F) gca (A) atc (I) cgg (R) ggt (G) gtg (V) aac (N) act (T) ttg (L) caa (Q) tcc (S) original frameshift length = 30 frameshift length = 30 frameshifted sequence: act (T) ttg (L) caa (Q) tcc (S) gga (G) ata (I) aaa (K) agg (R) gca (A) cag (Q) agc (S) tgc (C) tgc (C) ttg (L) gag (E) tgg (W) atg (M) ccc (P) tgg (W) ggc (G) ttc (F) aca (T) ttt (F) atg (M) acc (T) ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 30 221 Y 250 * 30 meninges NF2 1 c.667_667delG p.A223fs*28 length of cdnaseq = 1788 length of protseq = 595 667 667 G 1 223 1 223 1 g Total no. of codons in cdna seq = 596 gca gca prev t start t-g end g-c --- -ca frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 596 last codon in array is ag aac (N) tac (Y) ttt (F) gca (A) gca (A) atc (I) cgg (R) aat (N) aaa (K) aac (N) tac (Y) ttt (F) caa (Q) tcc (S) gga (G) ata (I) original frameshift length = 28 frameshift length = 28 frameshifted sequence: caa (Q) tcc (S) gga (G) ata (I) aaa (K) agg (R) gca (A) cag (Q) agc (S) tgc (C) tgc (C) ttg (L) gag (E) tgg (W) atg (M) ccc (P) tgg (W) ggc (G) ttc (F) aca (T) ttt (F) atg (M) acc (T) ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 28 223 A 250 * 28 meninges NF2 1 c.683_683delA p.K228fs*23 length of cdnaseq = 1788 length of protseq = 595 683 683 A 1 228 2 228 2 a Total no. of codons in cdna seq = 596 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 596 last codon in array is ag cgg (R) aat (N) aaa (K) aag (K) aag (K) ggc (G) aca (T) gag (E) ctg (L) cgg (R) aat (N) aaa (K) agg (R) gca (A) cag (Q) agc (S) original frameshift length = 23 frameshift length = 23 frameshifted sequence: agg (R) gca (A) cag (Q) agc (S) tgc (C) tgc (C) ttg (L) gag (E) tgg (W) atg (M) ccc (P) tgg (W) ggc (G) ttc (F) aca (T) ttt (F) atg (M) acc (T) ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 23 228 K 250 * 23 meninges NF2 1 c.68_69delCC p.T23fs*25 length of cdnaseq = 1788 length of protseq = 595 68 69 CC 2 23 2 23 3 cc Total no. of codons in cdna seq = 596 acc acc start a-c post g end c-g a-- --- frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 47 Protein length after deletion = 46 Total no. of codons in del cdnaseq = 596 last codon in array is g aag (K) acg (T) ttc (F) acc (T) acc (T) gtg (V) agg (R) atc (I) gtc (V) aag (K) acg (T) ttc (F) agt (S) gag (E) gat (D) cgt (R) original frameshift length = 25 frameshift length = 25 frameshifted sequence: agt (S) gag (E) gat (D) cgt (R) cac (H) cat (H) gga (G) cgc (R) cga (R) gat (D) gga (G) gtt (V) caa (Q) ttg (L) cga (R) gat (D) gaa (E) gtg (V) gaa (E) agg (R) gaa (E) gga (G) cct (P) ctt (L) tga (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 25 23 T 47 * 25 meninges NF2 1 c.692_693delAG p.E231fs*14 length of cdnaseq = 1788 length of protseq = 595 692 693 AG 2 231 2 231 3 ag Total no. of codons in cdna seq = 596 gag gag start g-a post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 244 Protein length after deletion = 243 Total no. of codons in del cdnaseq = 596 last codon in array is g aag (K) ggc (G) aca (T) gag (E) gag (E) ctg (L) ctg (L) ctt (L) gga (G) aag (K) ggc (G) aca (T) gct (A) gct (A) gct (A) tgg (W) original frameshift length = 14 frameshift length = 14 frameshifted sequence: gct (A) gct (A) gct (A) tgg (W) agt (S) gga (G) tgc (C) cct (P) ggg (G) gct (A) tca (S) cat (H) tta (L) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 14 231 E 244 * 14 meninges NF2 1 c.744_754del11 p.R249fs*8 length of cdnaseq = 1788 length of protseq = 595 744 754 11 11 248 3 252 1 cagactgaccc Total no. of codons in cdna seq = 596 aac ccc start a-c end c-c aa- -cc frameshift deletion length of cdnaseq after deletion = 1777 ter codon is tga at posn 256 Protein length after deletion = 255 Total no. of codons in del cdnaseq = 593 last codon in array is g gac (D) cct (P) gag (E) aac (N) ccc (P) aag (K) atc (I) tcc (S) ttc (F) gac (D) cct (P) gag (E) aac (N) caa (Q) gat (D) ctc (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: aac (N) caa (Q) gat (D) ctc (L) ctt (L) ccc (P) gtg (V) gaa (E) tga (TER) wild type sequence in deletion region: aac (N) aga (R) ctg (L) acc (T) ccc (P) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: aac (N) aac (N) first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 8 249 R 256 * 8 meninges NF2 1 c.745_755del11 p.R249fs*8 length of cdnaseq = 1788 length of protseq = 595 745 755 11 11 249 1 252 2 agactgacccc Total no. of codons in cdna seq = 596 aga ccc prev c start c-a end c-c --- --c frameshift deletion length of cdnaseq after deletion = 1777 ter codon is tga at posn 256 Protein length after deletion = 255 Total no. of codons in del cdnaseq = 593 last codon in array is g cct (P) gag (E) aac (N) aga (R) ccc (P) aag (K) atc (I) tcc (S) ttc (F) cct (P) gag (E) aac (N) caa (Q) gat (D) ctc (L) ctt (L) original frameshift length = 8 frameshift length = 8 frameshifted sequence: caa (Q) gat (D) ctc (L) ctt (L) ccc (P) gtg (V) gaa (E) tga (TER) wild type sequence in deletion region: aga (R) ctg (L) acc (T) ccc (P) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 8 249 R 256 * 8 meninges NF2 1 c.76_76delA p.I26fs*14 length of cdnaseq = 1788 length of protseq = 595 76 76 A 1 26 1 26 1 a Total no. of codons in cdna seq = 596 atc atc prev g start g-a end a-t --- -tc frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 39 Protein length after deletion = 38 Total no. of codons in del cdnaseq = 596 last codon in array is ag acc (T) gtg (V) agg (R) atc (I) atc (I) gtc (V) acc (T) atg (M) gac (D) acc (T) gtg (V) agg (R) tcg (S) tca (S) cca (P) tgg (W) original frameshift length = 14 frameshift length = 14 frameshifted sequence: tcg (S) tca (S) cca (P) tgg (W) acg (T) ccg (P) aga (R) tgg (W) agt (S) tca (S) att (I) gcg (A) aga (R) tga (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 14 26 I 39 * 14 meninges NF2 1 c.787_788delAA p.N263fs*5 length of cdnaseq = 1788 length of protseq = 595 787 788 AA 2 263 1 263 2 aa Total no. of codons in cdna seq = 596 aac aac prev a start a-a end a-c --- --c frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 267 Protein length after deletion = 266 Total no. of codons in del cdnaseq = 596 last codon in array is g gaa (E) atc (I) cga (R) aac (N) aac (N) atc (I) tcg (S) tac (Y) agt (S) gaa (E) atc (I) cga (R) cat (H) ctc (L) gta (V) cag (Q) original frameshift length = 5 frameshift length = 5 frameshifted sequence: cat (H) ctc (L) gta (V) cag (Q) tga (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 5 263 N 267 * 5 meninges NF2 1 c.807_807delG p.E270fs*26 length of cdnaseq = 1788 length of protseq = 595 807 807 G 1 269 3 269 3 g Total no. of codons in cdna seq = 596 aag aag start a-g post g end g-g aa- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 596 last codon in array is ag tac (Y) agt (S) gac (D) aag (K) aag (K) gag (E) ttt (F) act (T) att (I) tac (Y) agt (S) gac (D) aag (K) agt (S) tta (L) cta (L) original frameshift length = 27 frameshift length = 27 frameshifted sequence: aag (K) agt (S) tta (L) cta (L) tta (L) aac (N) cac (H) tgg (W) ata (I) aga (R) aaa (K) ttg (L) atg (M) tct (S) tca (S) agt (S) tta (L) act (T) cct (P) caa (Q) agc (S) ttc (F) gtg (V) tta (L) ata (I) agc (S) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aag (K) aag (K) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 26 270 E 295 * 26 meninges NF2 1 c.809_809delA p.E270fs*26 length of cdnaseq = 1788 length of protseq = 595 809 809 A 1 270 2 270 2 a Total no. of codons in cdna seq = 596 gag gag start g-a end a-g g-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 596 last codon in array is ag agt (S) gac (D) aag (K) gag (E) gag (E) ttt (F) act (T) att (I) aaa (K) agt (S) gac (D) aag (K) ggt (G) tta (L) cta (L) tta (L) original frameshift length = 26 frameshift length = 26 frameshifted sequence: ggt (G) tta (L) cta (L) tta (L) aac (N) cac (H) tgg (W) ata (I) aga (R) aaa (K) ttg (L) atg (M) tct (S) tca (S) agt (S) tta (L) act (T) cct (P) caa (Q) agc (S) ttc (F) gtg (V) tta (L) ata (I) agc (S) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 26 270 E 295 * 26 meninges NF2 1 c.813_813delT p.F271fs*25 length of cdnaseq = 1788 length of protseq = 595 813 813 T 1 271 3 271 3 t Total no. of codons in cdna seq = 596 ttt ttt start t-t post a end t-a tt- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 596 last codon in array is ag gac (D) aag (K) gag (E) ttt (F) ttt (F) act (T) att (I) aaa (K) cca (P) gac (D) aag (K) gag (E) tta (L) cta (L) tta (L) aac (N) original frameshift length = 25 frameshift length = 25 frameshifted sequence: tta (L) cta (L) tta (L) aac (N) cac (H) tgg (W) ata (I) aga (R) aaa (K) ttg (L) atg (M) tct (S) tca (S) agt (S) tta (L) act (T) cct (P) caa (Q) agc (S) ttc (F) gtg (V) tta (L) ata (I) agc (S) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 25 271 F 295 * 25 meninges NF2 1 c.813_816delTACT p.F271fs*24 length of cdnaseq = 1788 length of protseq = 595 813 816 TACT 4 271 3 272 3 tact Total no. of codons in cdna seq = 596 ttt act start t-t post a end t-a tt- --- frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 294 Protein length after deletion = 293 Total no. of codons in del cdnaseq = 595 last codon in array is ag gac (D) aag (K) gag (E) ttt (F) act (T) att (I) aaa (K) cca (P) ctg (L) gac (D) aag (K) gag (E) tta (L) tta (L) aac (N) cac (H) original frameshift length = 24 frameshift length = 24 frameshifted sequence: tta (L) tta (L) aac (N) cac (H) tgg (W) ata (I) aga (R) aaa (K) ttg (L) atg (M) tct (S) tca (S) agt (S) tta (L) act (T) cct (P) caa (Q) agc (S) ttc (F) gtg (V) tta (L) ata (I) agc (S) tga (TER) wild type sequence in deletion region: ttt (F) act (T) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 24 271 F 294 * 24 meninges NF2 1 c.815_822delCTATTAAA p.I273fs*3 length of cdnaseq = 1788 length of protseq = 595 815 822 CTATTAAA 8 272 2 274 3 ctattaaa Total no. of codons in cdna seq = 596 act aaa start a-c post c end a-c a-- --- frameshift deletion length of cdnaseq after deletion = 1780 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 594 last codon in array is g aag (K) gag (E) ttt (F) act (T) aaa (K) cca (P) ctg (L) gat (D) aag (K) aag (K) gag (E) ttt (F) acc (T) act (T) gga (G) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: acc (T) act (T) gga (G) taa (TER) wild type sequence in deletion region: act (T) att (I) aaa (K) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: act (T) acc (T) first wt aa affected by frameshift deletion is : att (I) final frameshift length = 3 273 I 275 * 3 meninges NF2 1 c.866_866delA p.K289fs*7 length of cdnaseq = 1788 length of protseq = 595 866 866 A 1 289 2 289 2 a Total no. of codons in cdna seq = 596 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 596 last codon in array is ag aac (N) tcc (S) tca (S) aag (K) aag (K) ctt (L) cgt (R) gtt (V) aat (N) aac (N) tcc (S) tca (S) agc (S) ttc (F) gtg (V) tta (L) original frameshift length = 7 frameshift length = 7 frameshifted sequence: agc (S) ttc (F) gtg (V) tta (L) ata (I) agc (S) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 7 289 K 295 * 7 meninges NF2 1 c.892_892delC p.Q298fs*11 length of cdnaseq = 1788 length of protseq = 595 892 892 C 1 298 1 298 1 c Total no. of codons in cdna seq = 596 cag cag prev c start c-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 308 Protein length after deletion = 307 Total no. of codons in del cdnaseq = 596 last codon in array is ag ctg (L) att (I) ctc (L) cag (Q) cag (Q) cta (L) tgt (C) atc (I) ggg (G) ctg (L) att (I) ctc (L) agc (S) tat (Y) gta (V) tcg (S) original frameshift length = 11 frameshift length = 11 frameshifted sequence: agc (S) tat (Y) gta (V) tcg (S) gga (G) acc (T) atg (M) atc (I) tat (Y) tta (L) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 11 298 Q 308 * 11 meninges NF2 1 c.914_935del22 p.D305fs*10 length of cdnaseq = 1788 length of protseq = 595 914 935 22 22 305 2 312 2 atctatttatgaggagaaggaa Total no. of codons in cdna seq = 596 gat aaa start g-a end a-a g-- --a frameshift deletion length of cdnaseq after deletion = 1766 ter codon is tga at posn 314 Protein length after deletion = 313 Total no. of codons in del cdnaseq = 589 last codon in array is ag ggg (G) aac (N) cat (H) gat (D) aaa (K) gcc (A) gat (D) tct (S) ttg (L) ggg (G) aac (N) cat (H) gag (E) ccg (P) att (I) ctt (L) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gag (E) ccg (P) att (I) ctt (L) tgg (W) aag (K) ttc (F) agc (S) aga (R) tga (TER) wild type sequence in deletion region: gat (D) cta (L) ttt (F) atg (M) agg (R) aga (R) agg (R) aaa (K) wt frameshift deln region length = 8 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 10 305 D 314 * 10 meninges NF2 1 c.936_936delA p.A313fs*9 length of cdnaseq = 1788 length of protseq = 595 936 936 A 1 312 3 312 3 a Total no. of codons in cdna seq = 596 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 321 Protein length after deletion = 320 Total no. of codons in del cdnaseq = 596 last codon in array is ag agg (R) aga (R) agg (R) aaa (K) aaa (K) gcc (A) gat (D) tct (S) ttg (L) agg (R) aga (R) agg (R) aag (K) ccg (P) att (I) ctt (L) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aag (K) ccg (P) att (I) ctt (L) tgg (W) aag (K) ttc (F) agc (S) aga (R) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 9 313 A 321 * 9 meninges NF2 1 c.95_96delAG p.E32fs*16 length of cdnaseq = 1788 length of protseq = 595 95 96 AG 2 32 2 32 3 ag Total no. of codons in cdna seq = 596 gag gag start g-a post a end g-a g-- --- frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 47 Protein length after deletion = 46 Total no. of codons in del cdnaseq = 596 last codon in array is g atg (M) gac (D) gcc (A) gag (E) gag (E) atg (M) gag (E) ttc (F) aat (N) atg (M) gac (D) gcc (A) gat (D) gga (G) gtt (V) caa (Q) original frameshift length = 16 frameshift length = 16 frameshifted sequence: gat (D) gga (G) gtt (V) caa (Q) ttg (L) cga (R) gat (D) gaa (E) gtg (V) gaa (E) agg (R) gaa (E) gga (G) cct (P) ctt (L) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 16 32 E 47 * 16 meninges NF2 1 c.993_993delA p.K332fs*14 length of cdnaseq = 1788 length of protseq = 595 993 993 A 1 331 3 331 3 a Total no. of codons in cdna seq = 596 aga aga start g-a post a end a-a ag- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 345 Protein length after deletion = 344 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) aag (K) gct (A) aga (R) aga (R) aag (K) cag (Q) atg (M) gag (E) gag (E) aag (K) gct (A) aga (R) agc (S) aga (R) tgg (W) original frameshift length = 15 frameshift length = 15 frameshifted sequence: aga (R) agc (S) aga (R) tgg (W) agc (S) ggc (G) agc (S) gcc (A) tcg (S) ctc (L) gag (E) aga (R) agc (S) aga (R) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aga (R) aga (R) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 14 332 K 345 * 14 meninges NF2 1 c.995_995delA p.K332fs*14 length of cdnaseq = 1788 length of protseq = 595 995 995 A 1 332 2 332 2 a Total no. of codons in cdna seq = 596 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 345 Protein length after deletion = 344 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) gct (A) aga (R) aag (K) aag (K) cag (Q) atg (M) gag (E) cgg (R) aag (K) gct (A) aga (R) agc (S) aga (R) tgg (W) agc (S) original frameshift length = 14 frameshift length = 14 frameshifted sequence: agc (S) aga (R) tgg (W) agc (S) ggc (G) agc (S) gcc (A) tcg (S) ctc (L) gag (E) aga (R) agc (S) aga (R) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 14 332 K 345 * 14 pleura NF2 1 c.1003_1012del10 p.E335fs*8 length of cdnaseq = 1788 length of protseq = 595 1003 1012 10 10 335 1 338 1 gagcggcagc Total no. of codons in cdna seq = 596 gag cgc prev g start g-g end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 1778 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 593 last codon in array is ag aag (K) cag (Q) atg (M) gag (E) cgc (R) ctc (L) gct (A) cga (R) gag (E) aag (K) cag (Q) atg (M) gcc (A) tcg (S) ctc (L) gag (E) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gcc (A) tcg (S) ctc (L) gag (E) aga (R) agc (S) aga (R) tga (TER) wild type sequence in deletion region: gag (E) cgg (R) cag (Q) cgc (R) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 8 335 E 342 * 8 pleura NF2 1 c.1457_1466delCAATTCCAGC p.P486fs*26 length of cdnaseq = 1788 length of protseq = 595 1457 1466 CAATTCCAGC 10 486 2 489 2 caattccagc Total no. of codons in cdna seq = 596 cca gca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 1778 ter codon is tga at posn 511 Protein length after deletion = 510 Total no. of codons in del cdnaseq = 593 last codon in array is ag ccc (P) atg (M) aac (N) cca (P) gca (A) ccg (P) ttg (L) cct (P) cct (P) ccc (P) atg (M) aac (N) cac (H) cgt (R) tgc (C) ctc (L) original frameshift length = 26 frameshift length = 26 frameshifted sequence: cac (H) cgt (R) tgc (C) ctc (L) ctg (L) aca (T) tac (Y) caa (Q) gct (A) tca (S) acc (T) tca (S) ttg (L) gtg (V) aca (T) gcc (A) tgt (C) ctt (L) tcg (S) act (T) tca (S) aag (K) ata (I) ctg (L) aca (T) tga (TER) wild type sequence in deletion region: cca (P) att (I) cca (P) gca (A) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 26 486 P 511 * 26 skin NF2 1 c.1123_1265del143 p.M375fs*20 length of cdnaseq = 1788 length of protseq = 595 1123 1265 143 143 375 1 422 2 atgcggtctgaggagacagctgacctgttggctgaaaaggcccagatcaccgaggaggaggcaaaacttctggcccagaaggccgcagaggctgagcaggaaatgcagcgcatcaaggccacagcgattcgcacggaggagga Total no. of codons in cdna seq = 596 atg gag prev g start g-a end a-g --- --g frameshift deletion length of cdnaseq after deletion = 1645 ter codon is tga at posn 394 Protein length after deletion = 393 Total no. of codons in del cdnaseq = 549 last codon in array is g gaa (E) gca (A) ctg (L) atg (M) gag (E) aag (K) cgc (R) ctg (L) atg (M) gaa (E) gca (A) ctg (L) gaa (E) gcg (A) cct (P) gat (D) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gaa (E) gcg (A) cct (P) gat (D) gga (G) gca (A) gaa (E) ggt (G) gct (A) gga (G) agc (S) cga (R) ggt (G) gct (A) ggc (G) act (T) gaa (E) gat (D) ggc (G) tga (TER) wild type sequence in deletion region: atg (M) cgg (R) tct (S) gag (E) gag (E) aca (T) gct (A) gac (D) ctg (L) ttg (L) gct (A) gaa (E) aag (K) gcc (A) cag (Q) atc (I) acc (T) gag (E) gag (E) gag (E) gca (A) aaa (K) ctt (L) ctg (L) gcc (A) cag (Q) aag (K) gcc (A) gca (A) gag (E) gct (A) gag (E) cag (Q) gaa (E) atg (M) cag (Q) cgc (R) atc (I) aag (K) gcc (A) aca (T) gcg (A) att (I) cgc (R) acg (T) gag (E) gag (E) gag (E) wt frameshift deln region length = 48 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 20 375 M 394 * 20 skin NF2 1 c.1447_1571del125 p.P483fs*17 length of cdnaseq = 1788 length of protseq = 595 1447 1571 125 125 483 1 524 2 cccatgaacccaattccagcaccgttgcctcctgacataccaagcttcaacctcattggtgacagcctgtctttcgacttcaaagatactgacatgaagcggctttccatggagatagagaaaga Total no. of codons in cdna seq = 596 ccc gaa prev g start g-c end a-a --- --a frameshift deletion length of cdnaseq after deletion = 1663 ter codon is tga at posn 499 Protein length after deletion = 498 Total no. of codons in del cdnaseq = 555 last codon in array is g acg (T) tac (Y) ccg (P) ccc (P) gaa (E) aaa (K) gtg (V) gaa (E) tac (Y) acg (T) tac (Y) ccg (P) aaa (K) agt (S) gga (G) ata (I) original frameshift length = 17 frameshift length = 17 frameshifted sequence: aaa (K) agt (S) gga (G) ata (I) cat (H) gga (G) aaa (K) gag (E) caa (Q) gca (A) tct (S) gca (A) gga (G) gca (A) gct (A) caa (Q) tga (TER) wild type sequence in deletion region: ccc (P) atg (M) aac (N) cca (P) att (I) cca (P) gca (A) ccg (P) ttg (L) cct (P) cct (P) gac (D) ata (I) cca (P) agc (S) ttc (F) aac (N) ctc (L) att (I) ggt (G) gac (D) agc (S) ctg (L) tct (S) ttc (F) gac (D) ttc (F) aaa (K) gat (D) act (T) gac (D) atg (M) aag (K) cgg (R) ctt (L) tcc (S) atg (M) gag (E) ata (I) gag (E) aaa (K) gaa (E) wt frameshift deln region length = 42 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 17 483 P 499 * 17 skin NF2 1 c.361_445del85 p.Q121fs*25 length of cdnaseq = 1788 length of protseq = 595 361 445 85 85 121 1 149 1 caggtaaagaagcagattttagatgaaaagatctactgccctcctgaggcttctgtgctcctggcttcttacgccgtccaggcca Total no. of codons in cdna seq = 596 cag aag prev a start a-c end a-a --- -ag frameshift deletion length of cdnaseq after deletion = 1703 ter codon is taa at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 568 last codon in array is ag ttc (F) ttc (F) tta (L) cag (Q) aag (K) tat (Y) ggt (G) gac (D) tac (Y) ttc (F) ttc (F) tta (L) agt (S) atg (M) gtg (V) act (T) original frameshift length = 25 frameshift length = 25 frameshifted sequence: agt (S) atg (M) gtg (V) act (T) acg (T) acc (T) cca (P) gtg (V) ttc (F) aca (T) agc (S) ggg (G) gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: cag (Q) gta (V) aag (K) aag (K) cag (Q) att (I) tta (L) gat (D) gaa (E) aag (K) atc (I) tac (Y) tgc (C) cct (P) cct (P) gag (E) gct (A) tct (S) gtg (V) ctc (L) ctg (L) gct (A) tct (S) tac (Y) gcc (A) gtc (V) cag (Q) gcc (A) aag (K) wt frameshift deln region length = 29 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 25 121 Q 145 * 25 skin NF2 1 c.616_616delG p.E206fs*3 length of cdnaseq = 1788 length of protseq = 595 616 616 G 1 206 1 206 1 g Total no. of codons in cdna seq = 596 gaa gaa prev g start g-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 208 Protein length after deletion = 207 Total no. of codons in del cdnaseq = 596 last codon in array is ag gct (A) gaa (E) atg (M) gaa (E) gaa (E) tat (Y) ctg (L) aag (K) ata (I) gct (A) gaa (E) atg (M) aat (N) atc (I) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aat (N) atc (I) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 3 206 E 208 * 3 soft_tissue NF2 1 c.1001_1079del79 p.M334fs*4 length of cdnaseq = 1788 length of protseq = 595 1001 1079 79 79 334 2 360 2 tggagcggcagcgcctcgctcgagagaagcagatgagggaggaggctgaacgcacgagggatgagttggagaggaggct Total no. of codons in cdna seq = 596 atg ctg start a-t end t-g a-- --g frameshift deletion length of cdnaseq after deletion = 1709 ter codon is tga at posn 337 Protein length after deletion = 336 Total no. of codons in del cdnaseq = 570 last codon in array is ag aga (R) aag (K) cag (Q) atg (M) ctg (L) ctg (L) cag (Q) atg (M) aaa (K) aga (R) aag (K) cag (Q) agc (S) tgc (C) aga (R) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: agc (S) tgc (C) aga (R) tga (TER) wild type sequence in deletion region: atg (M) gag (E) cgg (R) cag (Q) cgc (R) ctc (L) gct (A) cga (R) gag (E) aag (K) cag (Q) atg (M) agg (R) gag (E) gag (E) gct (A) gaa (E) cgc (R) acg (T) agg (R) gat (D) gag (E) ttg (L) gag (E) agg (R) agg (R) ctg (L) wt frameshift deln region length = 27 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 4 334 M 337 * 4 soft_tissue NF2 1 c.1022_1031del10 p.E342fs*1 length of cdnaseq = 1788 length of protseq = 595 1022 1031 10 10 341 2 344 2 gagagaagca Total no. of codons in cdna seq = 596 cga cag start c-g end a-g c-- --g frameshift deletion length of cdnaseq after deletion = 1778 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 593 last codon in array is ag cgc (R) ctc (L) gct (A) cga (R) cag (Q) atg (M) agg (R) gag (E) gag (E) cgc (R) ctc (L) gct (A) cga (R) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: cga (R) tga (TER) wild type sequence in deletion region: cga (R) gag (E) aag (K) cag (Q) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: cga (R) cga (R) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 1 342 E 342 * 1 soft_tissue NF2 1 c.1023_1044del22 p.E342fs*15 length of cdnaseq = 1788 length of protseq = 595 1023 1044 22 22 341 3 348 3 agagaagcagatgagggaggag Total no. of codons in cdna seq = 596 cga gag start g-a post g end g-g cg- --- frameshift deletion length of cdnaseq after deletion = 1766 ter codon is tga at posn 356 Protein length after deletion = 355 Total no. of codons in del cdnaseq = 589 last codon in array is ag cgc (R) ctc (L) gct (A) cga (R) gag (E) gct (A) gaa (E) cgc (R) acg (T) cgc (R) ctc (L) gct (A) cgg (R) ctg (L) aac (N) gca (A) original frameshift length = 16 frameshift length = 16 frameshifted sequence: cgg (R) ctg (L) aac (N) gca (A) cga (R) ggg (G) atg (M) agt (S) tgg (W) aga (R) gga (G) ggc (G) tgc (C) tgc (C) aga (R) tga (TER) wild type sequence in deletion region: cga (R) gag (E) aag (K) cag (Q) atg (M) agg (R) gag (E) gag (E) wt frameshift deln region length = 8 matching aa in delstart region of wt and deletion mutant: cga (R) cgg (R) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 15 342 E 356 * 15 soft_tissue NF2 1 c.1040_1040delA p.E347fs*17 length of cdnaseq = 1788 length of protseq = 595 1040 1040 A 1 347 2 347 2 a Total no. of codons in cdna seq = 596 gag gag start g-a end a-g g-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 363 Protein length after deletion = 362 Total no. of codons in del cdnaseq = 596 last codon in array is ag cag (Q) atg (M) agg (R) gag (E) gag (E) gag (E) gct (A) gaa (E) cgc (R) cag (Q) atg (M) agg (R) ggg (G) agg (R) ctg (L) aac (N) original frameshift length = 17 frameshift length = 17 frameshifted sequence: ggg (G) agg (R) ctg (L) aac (N) gca (A) cga (R) ggg (G) atg (M) agt (S) tgg (W) aga (R) gga (G) ggc (G) tgc (C) tgc (C) aga (R) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 17 347 E 363 * 17 soft_tissue NF2 1 c.1059_1060delGG p.D354fs*1 length of cdnaseq = 1788 length of protseq = 595 1059 1060 GG 2 353 3 354 1 gg Total no. of codons in cdna seq = 596 agg gat start g-g end g-a ag- -at frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 354 Protein length after deletion = 353 Total no. of codons in del cdnaseq = 596 last codon in array is g gaa (E) cgc (R) acg (T) agg (R) gat (D) gag (E) ttg (L) gag (E) agg (R) gaa (E) cgc (R) acg (T) aga (R) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aga (R) tga (TER) wild type sequence in deletion region: agg (R) gat (D) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: agg (R) aga (R) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 1 354 D 354 * 1 soft_tissue NF2 1 c.1080_1080delG p.L361fs*3 length of cdnaseq = 1788 length of protseq = 595 1080 1080 G 1 360 3 360 3 g Total no. of codons in cdna seq = 596 ctg ctg start t-g post c end g-c ct- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 363 Protein length after deletion = 362 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) agg (R) agg (R) ctg (L) ctg (L) ctg (L) cag (Q) atg (M) aaa (K) gag (E) agg (R) agg (R) ctc (L) tgc (C) aga (R) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: ctc (L) tgc (C) aga (R) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctg (L) ctc (L) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 3 361 L 363 * 3 soft_tissue NF2 1 c.1092_1095delAGAA p.E365fs*9 length of cdnaseq = 1788 length of protseq = 595 1092 1095 AGAA 4 364 3 365 3 agaa Total no. of codons in cdna seq = 596 aaa gaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 373 Protein length after deletion = 372 Total no. of codons in del cdnaseq = 595 last codon in array is ag ctg (L) cag (Q) atg (M) aaa (K) gaa (E) gaa (E) gca (A) aca (T) atg (M) ctg (L) cag (Q) atg (M) aag (K) aag (K) caa (Q) caa (Q) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aag (K) aag (K) caa (Q) caa (Q) tgg (W) cca (P) acg (T) aag (K) cac (H) tga (TER) wild type sequence in deletion region: aaa (K) gaa (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 9 365 E 373 * 9 soft_tissue NF2 1 c.1099_1105delGCAACAA p.A367fs*6 length of cdnaseq = 1788 length of protseq = 595 1099 1105 GCAACAA 7 367 1 369 1 gcaacaa Total no. of codons in cdna seq = 596 gca atg prev a start a-g end a-t --- -tg frameshift deletion length of cdnaseq after deletion = 1781 ter codon is tga at posn 372 Protein length after deletion = 371 Total no. of codons in del cdnaseq = 594 last codon in array is ag aaa (K) gaa (E) gaa (E) gca (A) atg (M) gcc (A) aac (N) gaa (E) gca (A) aaa (K) gaa (E) gaa (E) tgg (W) cca (P) acg (T) aag (K) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tgg (W) cca (P) acg (T) aag (K) cac (H) tga (TER) wild type sequence in deletion region: gca (A) aca (T) atg (M) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 6 367 A 372 * 6 soft_tissue NF2 1 c.1124_1124delT p.M375fs*51 length of cdnaseq = 1788 length of protseq = 595 1124 1124 T 1 375 2 375 2 t Total no. of codons in cdna seq = 596 atg atg start a-t end t-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 425 Protein length after deletion = 424 Total no. of codons in del cdnaseq = 596 last codon in array is ag gaa (E) gca (A) ctg (L) atg (M) atg (M) cgg (R) tct (S) gag (E) gag (E) gaa (E) gca (A) ctg (L) agc (S) ggt (G) ctg (L) agg (R) original frameshift length = 51 frameshift length = 51 frameshifted sequence: agc (S) ggt (G) ctg (L) agg (R) aga (R) cag (Q) ctg (L) acc (T) tgt (C) tgg (W) ctg (L) aaa (K) agg (R) ccc (P) aga (R) tca (S) ccg (P) agg (R) agg (R) agg (R) caa (Q) aac (N) ttc (F) tgg (W) ccc (P) aga (R) agg (R) ccg (P) cag (Q) agg (R) ctg (L) agc (S) agg (R) aaa (K) tgc (C) agc (S) gca (A) tca (S) agg (R) cca (P) cag (Q) cga (R) ttc (F) gca (A) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 51 375 M 425 * 51 soft_tissue NF2 1 c.1148_1182del35 p.L383fs*12 length of cdnaseq = 1788 length of protseq = 595 1148 1182 35 35 383 2 394 3 tgttggctgaaaaggcccagatcaccgaggaggag Total no. of codons in cdna seq = 596 ctg gag start c-t post g end g-g c-- --- frameshift deletion length of cdnaseq after deletion = 1753 ter codon is tga at posn 394 Protein length after deletion = 393 Total no. of codons in del cdnaseq = 585 last codon in array is g aca (T) gct (A) gac (D) ctg (L) gag (E) gca (A) aaa (K) ctt (L) ctg (L) aca (T) gct (A) gac (D) cgc (R) aaa (K) act (T) tct (S) original frameshift length = 12 frameshift length = 12 frameshifted sequence: cgc (R) aaa (K) act (T) tct (S) ggc (G) cca (P) gaa (E) ggc (G) cgc (R) aga (R) ggc (G) tga (TER) wild type sequence in deletion region: ctg (L) ttg (L) gct (A) gaa (E) aag (K) gcc (A) cag (Q) atc (I) acc (T) gag (E) gag (E) gag (E) wt frameshift deln region length = 12 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 12 383 L 394 * 12 soft_tissue NF2 1 c.1163_1163delC p.Q389fs*37 length of cdnaseq = 1788 length of protseq = 595 1163 1163 C 1 388 2 388 2 c Total no. of codons in cdna seq = 596 gcc gcc start g-c end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 425 Protein length after deletion = 424 Total no. of codons in del cdnaseq = 596 last codon in array is ag gct (A) gaa (E) aag (K) gcc (A) gcc (A) cag (Q) atc (I) acc (T) gag (E) gct (A) gaa (E) aag (K) gcc (A) aga (R) tca (S) ccg (P) original frameshift length = 38 frameshift length = 38 frameshifted sequence: gcc (A) aga (R) tca (S) ccg (P) agg (R) agg (R) agg (R) caa (Q) aac (N) ttc (F) tgg (W) ccc (P) aga (R) agg (R) ccg (P) cag (Q) agg (R) ctg (L) agc (S) agg (R) aaa (K) tgc (C) agc (S) gca (A) tca (S) agg (R) cca (P) cag (Q) cga (R) ttc (F) gca (A) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gcc (A) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 37 389 Q 425 * 37 soft_tissue NF2 1 c.1184_1184delC p.A395fs*31 length of cdnaseq = 1788 length of protseq = 595 1184 1184 C 1 395 2 395 2 c Total no. of codons in cdna seq = 596 gca gca start g-c end c-a g-- --a frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 425 Protein length after deletion = 424 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) gag (E) gag (E) gca (A) gca (A) aaa (K) ctt (L) ctg (L) gcc (A) gag (E) gag (E) gag (E) gaa (E) aac (N) ttc (F) tgg (W) original frameshift length = 31 frameshift length = 31 frameshifted sequence: gaa (E) aac (N) ttc (F) tgg (W) ccc (P) aga (R) agg (R) ccg (P) cag (Q) agg (R) ctg (L) agc (S) agg (R) aaa (K) tgc (C) agc (S) gca (A) tca (S) agg (R) cca (P) cag (Q) cga (R) ttc (F) gca (A) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 31 395 A 425 * 31 soft_tissue NF2 1 c.1188_1191delACTT p.K396fs*29 length of cdnaseq = 1788 length of protseq = 595 1188 1191 ACTT 4 396 3 397 3 actt Total no. of codons in cdna seq = 596 aaa ctt start a-a post c end t-c aa- --- frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 424 Protein length after deletion = 423 Total no. of codons in del cdnaseq = 595 last codon in array is ag gag (E) gag (E) gca (A) aaa (K) ctt (L) ctg (L) gcc (A) cag (Q) aag (K) gag (E) gag (E) gca (A) aac (N) tgg (W) ccc (P) aga (R) original frameshift length = 29 frameshift length = 29 frameshifted sequence: aac (N) tgg (W) ccc (P) aga (R) agg (R) ccg (P) cag (Q) agg (R) ctg (L) agc (S) agg (R) aaa (K) tgc (C) agc (S) gca (A) tca (S) agg (R) cca (P) cag (Q) cga (R) ttc (F) gca (A) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: aaa (K) ctt (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 29 396 K 424 * 29 soft_tissue NF2 1 c.1189_1195delCTTCTGG p.L397fs*27 length of cdnaseq = 1788 length of protseq = 595 1189 1195 CTTCTGG 7 397 1 399 1 cttctgg Total no. of codons in cdna seq = 596 ctt gcc prev a start a-c end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1781 ter codon is tga at posn 423 Protein length after deletion = 422 Total no. of codons in del cdnaseq = 594 last codon in array is ag gag (E) gca (A) aaa (K) ctt (L) gcc (A) cag (Q) aag (K) gcc (A) gca (A) gag (E) gca (A) aaa (K) ccc (P) aga (R) agg (R) ccg (P) original frameshift length = 27 frameshift length = 27 frameshifted sequence: ccc (P) aga (R) agg (R) ccg (P) cag (Q) agg (R) ctg (L) agc (S) agg (R) aaa (K) tgc (C) agc (S) gca (A) tca (S) agg (R) cca (P) cag (Q) cga (R) ttc (F) gca (A) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: ctt (L) ctg (L) gcc (A) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 27 397 L 423 * 27 soft_tissue NF2 1 c.1223_1227delAAATG p.E408fs*33 length of cdnaseq = 1788 length of protseq = 595 1223 1227 AAATG 5 408 2 409 3 aaatg Total no. of codons in cdna seq = 596 gaa atg start g-a post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 1783 ter codon is tga at posn 440 Protein length after deletion = 439 Total no. of codons in del cdnaseq = 595 last codon in array is g gct (A) gag (E) cag (Q) gaa (E) atg (M) cag (Q) cgc (R) atc (I) aag (K) gct (A) gag (E) cag (Q) gca (A) gcg (A) cat (H) caa (Q) original frameshift length = 33 frameshift length = 33 frameshifted sequence: gca (A) gcg (A) cat (H) caa (Q) ggc (G) cac (H) agc (S) gat (D) tcg (S) cac (H) gga (G) gga (G) gga (G) gaa (E) gcg (A) cct (P) gat (D) gga (G) gca (A) gaa (E) ggt (G) gct (A) gga (G) agc (S) cga (R) ggt (G) gct (A) ggc (G) act (T) gaa (E) gat (D) ggc (G) tga (TER) wild type sequence in deletion region: gaa (E) atg (M) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 33 408 E 440 * 33 soft_tissue NF2 1 c.1266_1267delGA p.K423fs*19 length of cdnaseq = 1788 length of protseq = 595 1266 1267 GA 2 422 3 423 1 ga Total no. of codons in cdna seq = 596 gag aag start a-g end a-a ga- -ag frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 441 Protein length after deletion = 440 Total no. of codons in del cdnaseq = 596 last codon in array is g acg (T) gag (E) gag (E) gag (E) aag (K) cgc (R) ctg (L) atg (M) gag (E) acg (T) gag (E) gag (E) gaa (E) gcg (A) cct (P) gat (D) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gaa (E) gcg (A) cct (P) gat (D) gga (G) gca (A) gaa (E) ggt (G) gct (A) gga (G) agc (S) cga (R) ggt (G) gct (A) ggc (G) act (T) gaa (E) gat (D) ggc (G) tga (TER) wild type sequence in deletion region: gag (E) aag (K) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gag (E) gaa (E) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 19 423 K 441 * 19 soft_tissue NF2 1 c.1286_1286delA p.K429fs*10 length of cdnaseq = 1788 length of protseq = 595 1286 1286 A 1 429 2 429 2 a Total no. of codons in cdna seq = 596 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 438 Protein length after deletion = 437 Total no. of codons in del cdnaseq = 596 last codon in array is ag atg (M) gag (E) cag (Q) aag (K) aag (K) gtg (V) ctg (L) gaa (E) gcc (A) atg (M) gag (E) cag (Q) agg (R) tgc (C) tgg (W) aag (K) original frameshift length = 10 frameshift length = 10 frameshifted sequence: agg (R) tgc (C) tgg (W) aag (K) ccg (P) agg (R) tgc (C) tgg (W) cac (H) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 10 429 K 438 * 10 soft_tissue NF2 1 c.129_169del41 p.K44fs*28 length of cdnaseq = 1788 length of protseq = 595 129 169 41 41 43 3 57 1 gaaggacctctttgatttggtgtgccggactctggggctcc Total no. of codons in cdna seq = 596 ggg cga start g-g end c-g gg- -ga frameshift deletion length of cdnaseq after deletion = 1747 ter codon is tga at posn 71 Protein length after deletion = 70 Total no. of codons in del cdnaseq = 583 last codon in array is g aag (K) tgg (W) aaa (K) ggg (G) cga (R) gaa (E) acc (T) tgg (W) ttc (F) aag (K) tgg (W) aaa (K) ggg (G) aga (R) aac (N) ctg (L) original frameshift length = 29 frameshift length = 29 frameshifted sequence: ggg (G) aga (R) aac (N) ctg (L) gtt (V) ctt (L) tgg (W) act (T) gca (A) gta (V) cac (H) aat (N) caa (Q) gga (G) cac (H) agt (S) ggc (G) ctg (L) gct (A) caa (Q) aat (N) gga (G) caa (Q) gaa (E) ggt (G) act (T) gga (G) tca (S) tga (TER) wild type sequence in deletion region: ggg (G) aag (K) gac (D) ctc (L) ttt (F) gat (D) ttg (L) gtg (V) tgc (C) cgg (R) act (T) ctg (L) ggg (G) ctc (L) cga (R) wt frameshift deln region length = 15 matching aa in delstart region of wt and deletion mutant: ggg (G) ggg (G) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 28 44 K 71 * 28 soft_tissue NF2 1 c.1340_1347delGGGCCAAA p.A448fs*44 length of cdnaseq = 1788 length of protseq = 595 1340 1347 GGGCCAAA 8 447 2 449 3 gggccaaa Total no. of codons in cdna seq = 596 agg aaa start a-g post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 1780 ter codon is tga at posn 491 Protein length after deletion = 490 Total no. of codons in del cdnaseq = 594 last codon in array is g tca (S) gag (E) agg (R) agg (R) aaa (K) gag (E) gca (A) gat (D) cag (Q) tca (S) gag (E) agg (R) aga (R) ggc (G) aga (R) tca (S) original frameshift length = 45 frameshift length = 45 frameshifted sequence: aga (R) ggc (G) aga (R) tca (S) gct (A) gaa (E) gca (A) gga (G) cct (P) gca (A) gga (G) agc (S) acg (T) cga (R) ggc (G) gga (G) gcg (A) aag (K) agc (S) caa (Q) gca (A) gaa (E) gct (A) cct (P) gga (G) gat (D) tgc (C) cac (H) caa (Q) gcc (A) cac (H) gta (V) ccc (P) gcc (A) cat (H) gaa (E) ccc (P) aat (N) tcc (S) agc (S) acc (T) gtt (V) gcc (A) tcc (S) tga (TER) wild type sequence in deletion region: agg (R) gcc (A) aaa (K) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: agg (R) aga (R) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 44 448 A 491 * 44 soft_tissue NF2 1 c.1340_1445del106 p.R447fs*3 length of cdnaseq = 1788 length of protseq = 595 1340 1445 106 106 447 2 482 2 gggccaaagaggcagatcagctgaagcaggacctgcaggaagcacgcgaggcggagcgaagagccaagcagaagctcctggagattgccaccaagcccacgtaccc Total no. of codons in cdna seq = 596 agg ccg start a-g end c-g a-- --g frameshift deletion length of cdnaseq after deletion = 1682 ter codon is tga at posn 449 Protein length after deletion = 448 Total no. of codons in del cdnaseq = 561 last codon in array is ag tca (S) gag (E) agg (R) agg (R) ccg (P) ccc (P) atg (M) aac (N) cca (P) tca (S) gag (E) agg (R) agc (S) cca (P) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: agc (S) cca (P) tga (TER) wild type sequence in deletion region: agg (R) gcc (A) aaa (K) gag (E) gca (A) gat (D) cag (Q) ctg (L) aag (K) cag (Q) gac (D) ctg (L) cag (Q) gaa (E) gca (A) cgc (R) gag (E) gcg (A) gag (E) cga (R) aga (R) gcc (A) aag (K) cag (Q) aag (K) ctc (L) ctg (L) gag (E) att (I) gcc (A) acc (T) aag (K) ccc (P) acg (T) tac (Y) ccg (P) wt frameshift deln region length = 36 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 3 447 R 449 * 3 soft_tissue NF2 1 c.134_134delA p.D45fs*78 length of cdnaseq = 1788 length of protseq = 595 134 134 A 1 45 2 45 2 a Total no. of codons in cdna seq = 596 gac gac start g-a end a-c g-- --c frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag aaa (K) ggg (G) aag (K) gac (D) gac (D) ctc (L) ttt (F) gat (D) ttg (L) aaa (K) ggg (G) aag (K) gcc (A) tct (S) ttg (L) att (I) original frameshift length = 78 frameshift length = 78 frameshifted sequence: gcc (A) tct (S) ttg (L) att (I) tgg (W) tgt (C) gcc (A) gga (G) ctc (L) tgg (W) ggc (G) tcc (S) gag (E) aaa (K) cct (P) ggt (G) tct (S) ttg (L) gac (D) tgc (C) agt (S) aca (T) caa (Q) tca (S) agg (R) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 78 45 D 122 * 78 soft_tissue NF2 1 c.1347_1387del41 p.E450fs*31 length of cdnaseq = 1788 length of protseq = 595 1347 1387 41 41 449 3 463 1 agaggcagatcagctgaagcaggacctgcaggaagcacgcg Total no. of codons in cdna seq = 596 aaa gag start a-a end g-a aa- -ag frameshift deletion length of cdnaseq after deletion = 1747 ter codon is tga at posn 480 Protein length after deletion = 479 Total no. of codons in del cdnaseq = 583 last codon in array is g agg (R) agg (R) gcc (A) aaa (K) gag (E) gcg (A) gag (E) cga (R) aga (R) agg (R) agg (R) gcc (A) aaa (K) ggc (G) gga (G) gcg (A) original frameshift length = 32 frameshift length = 32 frameshifted sequence: aaa (K) ggc (G) gga (G) gcg (A) aag (K) agc (S) caa (Q) gca (A) gaa (E) gct (A) cct (P) gga (G) gat (D) tgc (C) cac (H) caa (Q) gcc (A) cac (H) gta (V) ccc (P) gcc (A) cat (H) gaa (E) ccc (P) aat (N) tcc (S) agc (S) acc (T) gtt (V) gcc (A) tcc (S) tga (TER) wild type sequence in deletion region: aaa (K) gag (E) gca (A) gat (D) cag (Q) ctg (L) aag (K) cag (Q) gac (D) ctg (L) cag (Q) gaa (E) gca (A) cgc (R) gag (E) wt frameshift deln region length = 15 matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 31 450 E 480 * 31 soft_tissue NF2 1 c.1357_1357delC p.Q453fs*2 length of cdnaseq = 1788 length of protseq = 595 1357 1357 C 1 453 1 453 1 c Total no. of codons in cdna seq = 596 cag cag prev t start t-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 454 Protein length after deletion = 453 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) gca (A) gat (D) cag (Q) cag (Q) ctg (L) aag (K) cag (Q) gac (D) gag (E) gca (A) gat (D) agc (S) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: agc (S) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 2 453 Q 454 * 2 soft_tissue NF2 1 c.1362_1390del29 p.K455fs*30 length of cdnaseq = 1788 length of protseq = 595 1362 1390 29 29 454 3 464 1 gaagcaggacctgcaggaagcacgcgagg Total no. of codons in cdna seq = 596 ctg gcg start t-g end g-c ct- -cg frameshift deletion length of cdnaseq after deletion = 1759 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 587 last codon in array is g gca (A) gat (D) cag (Q) ctg (L) gcg (A) gag (E) cga (R) aga (R) gcc (A) gca (A) gat (D) cag (Q) ctc (L) gga (G) gcg (A) aag (K) original frameshift length = 31 frameshift length = 31 frameshifted sequence: ctc (L) gga (G) gcg (A) aag (K) agc (S) caa (Q) gca (A) gaa (E) gct (A) cct (P) gga (G) gat (D) tgc (C) cac (H) caa (Q) gcc (A) cac (H) gta (V) ccc (P) gcc (A) cat (H) gaa (E) ccc (P) aat (N) tcc (S) agc (S) acc (T) gtt (V) gcc (A) tcc (S) tga (TER) wild type sequence in deletion region: ctg (L) aag (K) cag (Q) gac (D) ctg (L) cag (Q) gaa (E) gca (A) cgc (R) gag (E) gcg (A) wt frameshift deln region length = 11 matching aa in delstart region of wt and deletion mutant: ctg (L) ctc (L) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 30 455 K 484 * 30 soft_tissue NF2 1 c.1384_1384delC p.R462fs*23 length of cdnaseq = 1788 length of protseq = 595 1384 1384 C 1 462 1 462 1 c Total no. of codons in cdna seq = 596 cgc cgc prev a start a-c end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag cag (Q) gaa (E) gca (A) cgc (R) cgc (R) gag (E) gcg (A) gag (E) cga (R) cag (Q) gaa (E) gca (A) gcg (A) agg (R) cgg (R) agc (S) original frameshift length = 23 frameshift length = 23 frameshifted sequence: gcg (A) agg (R) cgg (R) agc (S) gaa (E) gag (E) cca (P) agc (S) aga (R) agc (S) tcc (S) tgg (W) aga (R) ttg (L) cca (P) cca (P) agc (S) cca (P) cgt (R) acc (T) cgc (R) cca (P) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 23 462 R 484 * 23 soft_tissue NF2 1 c.1408_1408delC p.Q470fs*15 length of cdnaseq = 1788 length of protseq = 595 1408 1408 C 1 470 1 470 1 c Total no. of codons in cdna seq = 596 cag cag prev g start g-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag aga (R) gcc (A) aag (K) cag (Q) cag (Q) aag (K) ctc (L) ctg (L) gag (E) aga (R) gcc (A) aag (K) aga (R) agc (S) tcc (S) tgg (W) original frameshift length = 15 frameshift length = 15 frameshifted sequence: aga (R) agc (S) tcc (S) tgg (W) aga (R) ttg (L) cca (P) cca (P) agc (S) cca (P) cgt (R) acc (T) cgc (R) cca (P) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 15 470 Q 484 * 15 soft_tissue NF2 1 c.1413_1413delG p.K471fs*14 length of cdnaseq = 1788 length of protseq = 595 1413 1413 G 1 471 3 471 3 g Total no. of codons in cdna seq = 596 aag aag start a-g post c end g-c aa- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag gcc (A) aag (K) cag (Q) aag (K) aag (K) ctc (L) ctg (L) gag (E) att (I) gcc (A) aag (K) cag (Q) aac (N) tcc (S) tgg (W) aga (R) original frameshift length = 14 frameshift length = 14 frameshifted sequence: aac (N) tcc (S) tgg (W) aga (R) ttg (L) cca (P) cca (P) agc (S) cca (P) cgt (R) acc (T) cgc (R) cca (P) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 14 471 K 484 * 14 soft_tissue NF2 1 c.1435_1435delC p.T480fs*5 length of cdnaseq = 1788 length of protseq = 595 1435 1435 C 1 479 1 479 1 c Total no. of codons in cdna seq = 596 ccc ccc prev g start g-c end c-c --- -cc frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag gcc (A) acc (T) aag (K) ccc (P) ccc (P) acg (T) tac (Y) ccg (P) ccc (P) gcc (A) acc (T) aag (K) cca (P) cgt (R) acc (T) cgc (R) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cca (P) cgt (R) acc (T) cgc (R) cca (P) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 5 480 T 484 * 5 soft_tissue NF2 1 c.1438_1438delA p.T480fs*5 length of cdnaseq = 1788 length of protseq = 595 1438 1438 A 1 480 1 480 1 a Total no. of codons in cdna seq = 596 acg acg prev c start c-a end a-c --- -cg frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag acc (T) aag (K) ccc (P) acg (T) acg (T) tac (Y) ccg (P) ccc (P) atg (M) acc (T) aag (K) ccc (P) cgt (R) acc (T) cgc (R) cca (P) original frameshift length = 5 frameshift length = 5 frameshifted sequence: cgt (R) acc (T) cgc (R) cca (P) tga (TER) wild type sequence in deletion region: acg (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 5 480 T 484 * 5 soft_tissue NF2 1 c.1451_1452delTG p.M484fs*10 length of cdnaseq = 1788 length of protseq = 595 1451 1452 TG 2 484 2 484 3 tg Total no. of codons in cdna seq = 596 atg atg start a-t post a end g-a a-- --- frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 493 Protein length after deletion = 492 Total no. of codons in del cdnaseq = 596 last codon in array is g tac (Y) ccg (P) ccc (P) atg (M) atg (M) aac (N) cca (P) att (I) cca (P) tac (Y) ccg (P) ccc (P) aaa (K) ccc (P) aat (N) tcc (S) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aaa (K) ccc (P) aat (N) tcc (S) agc (S) acc (T) gtt (V) gcc (A) tcc (S) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 10 484 M 493 * 10 soft_tissue NF2 1 c.1459_1459delA p.I487fs*28 length of cdnaseq = 1788 length of protseq = 595 1459 1459 A 1 487 1 487 1 a Total no. of codons in cdna seq = 596 att att prev a start a-a end a-t --- -tt frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 514 Protein length after deletion = 513 Total no. of codons in del cdnaseq = 596 last codon in array is ag atg (M) aac (N) cca (P) att (I) att (I) cca (P) gca (A) ccg (P) ttg (L) atg (M) aac (N) cca (P) ttc (F) cag (Q) cac (H) cgt (R) original frameshift length = 28 frameshift length = 28 frameshifted sequence: ttc (F) cag (Q) cac (H) cgt (R) tgc (C) ctc (L) ctg (L) aca (T) tac (Y) caa (Q) gct (A) tca (S) acc (T) tca (S) ttg (L) gtg (V) aca (T) gcc (A) tgt (C) ctt (L) tcg (S) act (T) tca (S) aag (K) ata (I) ctg (L) aca (T) tga (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 28 487 I 514 * 28 soft_tissue NF2 1 c.1474_1478delCCTCC p.P492fs*1 length of cdnaseq = 1788 length of protseq = 595 1474 1478 CCTCC 5 492 1 493 2 cctcc Total no. of codons in cdna seq = 596 cct cct prev g start g-c end c-t --- --t frameshift deletion length of cdnaseq after deletion = 1783 ter codon is tga at posn 492 Protein length after deletion = 491 Total no. of codons in del cdnaseq = 595 last codon in array is g gca (A) ccg (P) ttg (L) cct (P) cct (P) gac (D) ata (I) cca (P) agc (S) gca (A) ccg (P) ttg (L) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: cct (P) cct (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 1 492 P 492 * 1 soft_tissue NF2 1 c.148_148delG p.V50fs*73 length of cdnaseq = 1788 length of protseq = 595 148 148 G 1 50 1 50 1 g Total no. of codons in cdna seq = 596 gtg gtg prev g start g-g end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag ttt (F) gat (D) ttg (L) gtg (V) gtg (V) tgc (C) cgg (R) act (T) ctg (L) ttt (F) gat (D) ttg (L) tgt (C) gcc (A) gga (G) ctc (L) original frameshift length = 73 frameshift length = 73 frameshifted sequence: tgt (C) gcc (A) gga (G) ctc (L) tgg (W) ggc (G) tcc (S) gag (E) aaa (K) cct (P) ggt (G) tct (S) ttg (L) gac (D) tgc (C) agt (S) aca (T) caa (Q) tca (S) agg (R) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 73 50 V 122 * 73 soft_tissue NF2 1 c.1513_1516delCTGT p.F507fs*7 length of cdnaseq = 1788 length of protseq = 595 1513 1516 CTGT 4 505 1 506 1 ctgt Total no. of codons in cdna seq = 596 ctg tct prev c start c-c end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 513 Protein length after deletion = 512 Total no. of codons in del cdnaseq = 595 last codon in array is ag ggt (G) gac (D) agc (S) ctg (L) tct (S) ttc (F) gac (D) ttc (F) aaa (K) ggt (G) gac (D) agc (S) ctt (L) tcg (S) act (T) tca (S) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ctt (L) tcg (S) act (T) tca (S) aag (K) ata (I) ctg (L) aca (T) tga (TER) wild type sequence in deletion region: ctg (L) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctg (L) ctt (L) matching aa in delstart region of wt and deletion mutant: tct (S) tcg (S) first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 7 507 F 513 * 7 soft_tissue NF2 1 c.1514_1515delTG p.S506fs*7 length of cdnaseq = 1788 length of protseq = 595 1514 1515 TG 2 505 2 505 3 tg Total no. of codons in cdna seq = 596 ctg ctg start c-t post t end g-t c-- --- frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 512 Protein length after deletion = 511 Total no. of codons in del cdnaseq = 596 last codon in array is g ggt (G) gac (D) agc (S) ctg (L) ctg (L) tct (S) ttc (F) gac (D) ttc (F) ggt (G) gac (D) agc (S) ctc (L) ttt (F) cga (R) ctt (L) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ctc (L) ttt (F) cga (R) ctt (L) caa (Q) aga (R) tac (Y) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctg (L) ctc (L) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 7 506 S 512 * 7 soft_tissue NF2 1 c.153_157delCCGGA p.R52fs*32 length of cdnaseq = 1788 length of protseq = 595 153 157 CCGGA 5 51 3 53 1 ccgga Total no. of codons in cdna seq = 596 tgc act start g-c end a-c tg- -ct frameshift deletion length of cdnaseq after deletion = 1783 ter codon is tga at posn 83 Protein length after deletion = 82 Total no. of codons in del cdnaseq = 595 last codon in array is g gat (D) ttg (L) gtg (V) tgc (C) act (T) ctg (L) ggg (G) ctc (L) cga (R) gat (D) ttg (L) gtg (V) tgc (C) tct (S) ggg (G) gct (A) original frameshift length = 33 frameshift length = 33 frameshifted sequence: tgc (C) tct (S) ggg (G) gct (A) ccg (P) aga (R) aac (N) ctg (L) gtt (V) ctt (L) tgg (W) act (T) gca (A) gta (V) cac (H) aat (N) caa (Q) gga (G) cac (H) agt (S) ggc (G) ctg (L) gct (A) caa (Q) aat (N) gga (G) caa (Q) gaa (E) ggt (G) act (T) gga (G) tca (S) tga (TER) wild type sequence in deletion region: tgc (C) cgg (R) act (T) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: tgc (C) tgc (C) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 32 52 R 83 * 32 soft_tissue NF2 1 c.1570_1570delG p.E524fs*26 length of cdnaseq = 1788 length of protseq = 595 1570 1570 G 1 524 1 524 1 g Total no. of codons in cdna seq = 596 gaa gaa prev a start a-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 549 Protein length after deletion = 548 Total no. of codons in del cdnaseq = 596 last codon in array is ag ata (I) gag (E) aaa (K) gaa (E) gaa (E) aaa (K) gtg (V) gaa (E) tac (Y) ata (I) gag (E) aaa (K) aaa (K) aag (K) tgg (W) aat (N) original frameshift length = 26 frameshift length = 26 frameshifted sequence: aaa (K) aag (K) tgg (W) aat (N) aca (T) tgg (W) aaa (K) aga (R) gca (A) agc (S) atc (I) tgc (C) agg (R) agc (S) agc (S) tca (S) atg (M) aac (N) tca (S) aga (R) cag (Q) aaa (K) tcg (S) agg (R) cct (P) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 26 524 E 549 * 26 soft_tissue NF2 1 c.1571_1572delAA p.K525fs*16 length of cdnaseq = 1788 length of protseq = 595 1571 1572 AA 2 524 2 524 3 aa Total no. of codons in cdna seq = 596 gaa gaa start g-a post a end a-a g-- --- frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 540 Protein length after deletion = 539 Total no. of codons in del cdnaseq = 596 last codon in array is g ata (I) gag (E) aaa (K) gaa (E) gaa (E) aaa (K) gtg (V) gaa (E) tac (Y) ata (I) gag (E) aaa (K) gaa (E) agt (S) gga (G) ata (I) original frameshift length = 17 frameshift length = 17 frameshifted sequence: gaa (E) agt (S) gga (G) ata (I) cat (H) gga (G) aaa (K) gag (E) caa (Q) gca (A) tct (S) gca (A) gga (G) gca (A) gct (A) caa (Q) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 16 525 K 540 * 16 soft_tissue NF2 1 c.1571_1574delAAAA p.K525fs*24 length of cdnaseq = 1788 length of protseq = 595 1571 1574 AAAA 4 524 2 525 2 aaaa Total no. of codons in cdna seq = 596 gaa aaa start g-a end a-a g-- --a frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 548 Protein length after deletion = 547 Total no. of codons in del cdnaseq = 595 last codon in array is ag ata (I) gag (E) aaa (K) gaa (E) aaa (K) gtg (V) gaa (E) tac (Y) atg (M) ata (I) gag (E) aaa (K) gag (E) tgg (W) aat (N) aca (T) original frameshift length = 25 frameshift length = 25 frameshifted sequence: gag (E) tgg (W) aat (N) aca (T) tgg (W) aaa (K) aga (R) gca (A) agc (S) atc (I) tgc (C) agg (R) agc (S) agc (S) tca (S) atg (M) aac (N) tca (S) aga (R) cag (Q) aaa (K) tcg (S) agg (R) cct (P) tga (TER) wild type sequence in deletion region: gaa (E) aaa (K) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gaa (E) gag (E) first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 24 525 K 548 * 24 soft_tissue NF2 1 c.1574_1574delA p.V526fs*24 length of cdnaseq = 1788 length of protseq = 595 1574 1574 A 1 525 2 525 2 a Total no. of codons in cdna seq = 596 aaa aaa start a-a end a-a a-- --a frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 549 Protein length after deletion = 548 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) aaa (K) gaa (E) aaa (K) aaa (K) gtg (V) gaa (E) tac (Y) atg (M) gag (E) aaa (K) gaa (E) aag (K) tgg (W) aat (N) aca (T) original frameshift length = 25 frameshift length = 25 frameshifted sequence: aag (K) tgg (W) aat (N) aca (T) tgg (W) aaa (K) aga (R) gca (A) agc (S) atc (I) tgc (C) agg (R) agc (S) agc (S) tca (S) atg (M) aac (N) tca (S) aga (R) cag (Q) aaa (K) tcg (S) agg (R) cct (P) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 24 526 V 549 * 24 soft_tissue NF2 1 c.1575_1737del163 p.K525fs*18 length of cdnaseq = 1788 length of protseq = 595 1575 1737 163 163 525 3 579 3 agtggaatacatggaaaagagcaagcatctgcaggagcagctcaatgaactcaagacagaaatcgaggccttgaaactgaaagagagggagacagctctggatattctgcacaatgagaactccgacaggggtggcagcagcaagcacaataccattaaaaag Total no. of codons in cdna seq = 596 aaa aag start a-a post c end g-c aa- --- frameshift deletion length of cdnaseq after deletion = 1625 Total no. of codons in del cdnaseq = 542 last codon in array is ag No ter codons in deleted sequence Protein length after deletion = 541 gag (E) aaa (K) gaa (E) aaa (K) aag (K) ctc (L) acc (T) ttg (L) cag (Q) gag (E) aaa (K) gaa (E) aac (N) tca (S) cct (P) tgc (C) original frameshift length = 18 frameshift length = 17 frameshifted sequence: aac (N) tca (S) cct (P) tgc (C) aga (R) gcg (A) cca (P) agt (S) ccc (P) gag (E) tgg (W) cct (P) tct (S) ttg (L) aag (K) agc (S) tct (S) ag (end) wild type sequence in deletion region: aaa (K) gtg (V) gaa (E) tac (Y) atg (M) gaa (E) aag (K) agc (S) aag (K) cat (H) ctg (L) cag (Q) gag (E) cag (Q) ctc (L) aat (N) gaa (E) ctc (L) aag (K) aca (T) gaa (E) atc (I) gag (E) gcc (A) ttg (L) aaa (K) ctg (L) aaa (K) gag (E) agg (R) gag (E) aca (T) gct (A) ctg (L) gat (D) att (I) ctg (L) cac (H) aat (N) gag (E) aac (N) tcc (S) gac (D) agg (R) ggt (G) ggc (G) agc (S) agc (S) aag (K) cac (H) aat (N) acc (T) att (I) aaa (K) aag (K) wt frameshift deln region length = 55 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 17 525 K 542 * 18 soft_tissue NF2 1 c.1584_1584delC p.Y528fs*1 length of cdnaseq = 1788 length of protseq = 595 1584 1584 C 1 528 3 528 3 c Total no. of codons in cdna seq = 596 tac tac start a-c post a end c-a ta- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 528 Protein length after deletion = 527 Total no. of codons in del cdnaseq = 596 last codon in array is ag aaa (K) gtg (V) gaa (E) tac (Y) tac (Y) atg (M) gaa (E) aag (K) agc (S) aaa (K) gtg (V) gaa (E) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 1 528 Y 528 * 1 soft_tissue NF2 1 c.1600_1600delC p.H534fs*16 length of cdnaseq = 1788 length of protseq = 595 1600 1600 C 1 534 1 534 1 c Total no. of codons in cdna seq = 596 cat cat prev g start g-c end c-a --- -at frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 549 Protein length after deletion = 548 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) agc (S) aag (K) cat (H) cat (H) ctg (L) cag (Q) gag (E) cag (Q) aag (K) agc (S) aag (K) atc (I) tgc (C) agg (R) agc (S) original frameshift length = 16 frameshift length = 16 frameshifted sequence: atc (I) tgc (C) agg (R) agc (S) agc (S) tca (S) atg (M) aac (N) tca (S) aga (R) cag (Q) aaa (K) tcg (S) agg (R) cct (P) tga (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 16 534 H 549 * 16 soft_tissue NF2 1 c.1621_1621delG p.E541fs*9 length of cdnaseq = 1788 length of protseq = 595 1621 1621 G 1 541 1 541 1 g Total no. of codons in cdna seq = 596 gaa gaa prev t start t-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 549 Protein length after deletion = 548 Total no. of codons in del cdnaseq = 596 last codon in array is ag cag (Q) ctc (L) aat (N) gaa (E) gaa (E) ctc (L) aag (K) aca (T) gaa (E) cag (Q) ctc (L) aat (N) aac (N) tca (S) aga (R) cag (Q) original frameshift length = 9 frameshift length = 9 frameshifted sequence: aac (N) tca (S) aga (R) cag (Q) aaa (K) tcg (S) agg (R) cct (P) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 9 541 E 549 * 9 soft_tissue NF2 1 c.1636_1636delA p.I546fs*4 length of cdnaseq = 1788 length of protseq = 595 1636 1636 A 1 546 1 546 1 a Total no. of codons in cdna seq = 596 atc atc prev a start a-a end a-t --- -tc frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 549 Protein length after deletion = 548 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) aca (T) gaa (E) atc (I) atc (I) gag (E) gcc (A) ttg (L) aaa (K) aag (K) aca (T) gaa (E) tcg (S) agg (R) cct (P) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tcg (S) agg (R) cct (P) tga (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 4 546 I 549 * 4 soft_tissue NF2 1 c.1637_1637delT p.I546fs*4 length of cdnaseq = 1788 length of protseq = 595 1637 1637 T 1 546 2 546 2 t Total no. of codons in cdna seq = 596 atc atc start a-t end t-c a-- --c frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 549 Protein length after deletion = 548 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) aca (T) gaa (E) atc (I) atc (I) gag (E) gcc (A) ttg (L) aaa (K) aag (K) aca (T) gaa (E) acg (T) agg (R) cct (P) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: acg (T) agg (R) cct (P) tga (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 4 546 I 549 * 4 soft_tissue NF2 1 c.168_207del40 p.R57fs*53 length of cdnaseq = 1788 length of protseq = 595 168 207 40 40 56 3 69 3 ccgagaaacctggttctttggactgcagtacacaatcaag Total no. of codons in cdna seq = 596 ctc aag start t-c post g end g-g ct- --- frameshift deletion length of cdnaseq after deletion = 1748 ter codon is taa at posn 109 Protein length after deletion = 108 Total no. of codons in del cdnaseq = 583 last codon in array is ag act (T) ctg (L) ggg (G) ctc (L) aag (K) gac (D) aca (T) gtg (V) gcc (A) act (T) ctg (L) ggg (G) ctg (L) aca (T) cag (Q) tgg (W) original frameshift length = 54 frameshift length = 54 frameshifted sequence: ctg (L) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: ctc (L) cga (R) gaa (E) acc (T) tgg (W) ttc (F) ttt (F) gga (G) ctg (L) cag (Q) tac (Y) aca (T) atc (I) aag (K) wt frameshift deln region length = 14 matching aa in delstart region of wt and deletion mutant: ctc (L) ctg (L) first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 53 57 R 109 * 53 soft_tissue NF2 1 c.171_216del46 p.E58fs*50 length of cdnaseq = 1788 length of protseq = 595 171 216 46 46 57 3 72 3 agaaacctggttctttggactgcagtacacaatcaaggacacagtg Total no. of codons in cdna seq = 596 cga gtg start g-a post g end g-g cg- --- frameshift deletion length of cdnaseq after deletion = 1742 ter codon is taa at posn 107 Protein length after deletion = 106 Total no. of codons in del cdnaseq = 581 last codon in array is ag ctg (L) ggg (G) ctc (L) cga (R) gtg (V) gcc (A) tgg (W) ctc (L) aaa (K) ctg (L) ggg (G) ctc (L) cgg (R) cct (P) ggc (G) tca (S) original frameshift length = 51 frameshift length = 51 frameshifted sequence: cgg (R) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: cga (R) gaa (E) acc (T) tgg (W) ttc (F) ttt (F) gga (G) ctg (L) cag (Q) tac (Y) aca (T) atc (I) aag (K) gac (D) aca (T) gtg (V) wt frameshift deln region length = 16 matching aa in delstart region of wt and deletion mutant: cga (R) cgg (R) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 50 58 E 107 * 50 soft_tissue NF2 1 c.205_211delAAGGACA p.K69fs*52 length of cdnaseq = 1788 length of protseq = 595 205 211 AAGGACA 7 69 1 71 1 aaggaca Total no. of codons in cdna seq = 596 aag aca prev c start c-a end a-c --- -ca frameshift deletion length of cdnaseq after deletion = 1781 ter codon is taa at posn 120 Protein length after deletion = 119 Total no. of codons in del cdnaseq = 594 last codon in array is ag tac (Y) aca (T) atc (I) aag (K) aca (T) gtg (V) gcc (A) tgg (W) ctc (L) tac (Y) aca (T) atc (I) cag (Q) tgg (W) cct (P) ggc (G) original frameshift length = 52 frameshift length = 52 frameshifted sequence: cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: aag (K) gac (D) aca (T) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 52 69 K 120 * 52 soft_tissue NF2 1 c.212_212delC p.T71fs*52 length of cdnaseq = 1788 length of protseq = 595 212 212 C 1 71 2 71 2 c Total no. of codons in cdna seq = 596 aca aca start a-c end c-a a-- --a frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag atc (I) aag (K) gac (D) aca (T) aca (T) gtg (V) gcc (A) tgg (W) ctc (L) atc (I) aag (K) gac (D) aag (K) tgg (W) cct (P) ggc (G) original frameshift length = 52 frameshift length = 52 frameshifted sequence: aag (K) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 52 71 T 122 * 52 soft_tissue NF2 1 c.224_224delT p.L75fs*48 length of cdnaseq = 1788 length of protseq = 595 224 224 T 1 75 2 75 2 t Total no. of codons in cdna seq = 596 ctc ctc start c-t end t-c c-- --c frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag gtg (V) gcc (A) tgg (W) ctc (L) ctc (L) aaa (K) atg (M) gac (D) aag (K) gtg (V) gcc (A) tgg (W) cca (P) aaa (K) tgg (W) aca (T) original frameshift length = 48 frameshift length = 48 frameshifted sequence: cca (P) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 48 75 L 122 * 48 soft_tissue NF2 1 c.264_264delG p.E89fs*34 length of cdnaseq = 1788 length of protseq = 595 264 264 G 1 88 3 88 3 g Total no. of codons in cdna seq = 596 aag aag start a-g post g end g-g aa- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag gat (D) gtt (V) tca (S) aag (K) aag (K) gaa (E) gaa (E) cca (P) gtc (V) gat (D) gtt (V) tca (S) aag (K) aag (K) aac (N) cag (Q) original frameshift length = 35 frameshift length = 35 frameshifted sequence: aag (K) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aag (K) aag (K) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 34 89 E 122 * 34 soft_tissue NF2 1 c.27_33delGAGCTTC p.M9fs*14 length of cdnaseq = 1788 length of protseq = 595 27 33 GAGCTTC 7 9 3 11 3 gagcttc Total no. of codons in cdna seq = 596 atg ttc start t-g post a end c-a at- --- frameshift deletion length of cdnaseq after deletion = 1781 ter codon is tga at posn 22 Protein length after deletion = 21 Total no. of codons in del cdnaseq = 594 last codon in array is ag gct (A) tcc (S) cgc (R) atg (M) ttc (F) agc (S) tct (S) ctc (L) aag (K) gct (A) tcc (S) cgc (R) ata (I) gct (A) ctc (L) tca (S) original frameshift length = 14 frameshift length = 14 frameshifted sequence: ata (I) gct (A) ctc (L) tca (S) aga (R) gga (G) agc (S) aac (N) cca (P) aga (R) cgt (R) tca (S) ccg (P) tga (TER) wild type sequence in deletion region: atg (M) agc (S) ttc (F) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 14 9 M 22 * 14 soft_tissue NF2 1 c.276_282delCACCTTT p.F94fs*27 length of cdnaseq = 1788 length of protseq = 595 276 282 CACCTTT 7 92 3 94 3 caccttt Total no. of codons in cdna seq = 596 gtc ttt start t-c post c end t-c gt- --- frameshift deletion length of cdnaseq after deletion = 1781 ter codon is taa at posn 120 Protein length after deletion = 119 Total no. of codons in del cdnaseq = 594 last codon in array is ag gaa (E) gaa (E) cca (P) gtc (V) ttt (F) cac (H) ttc (F) ttg (L) gcc (A) gaa (E) gaa (E) cca (P) gtc (V) act (T) tct (S) tgg (W) original frameshift length = 29 frameshift length = 29 frameshifted sequence: gtc (V) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: gtc (V) acc (T) ttt (F) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: gtc (V) gtc (V) matching aa in delstart region of wt and deletion mutant: acc (T) act (T) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 27 94 F 120 * 27 soft_tissue NF2 1 c.282_283delTC p.F94fs*9 length of cdnaseq = 1788 length of protseq = 595 282 283 TC 2 94 3 95 1 tc Total no. of codons in cdna seq = 596 ttt cac start t-t end c-a tt- -ac frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 102 Protein length after deletion = 101 Total no. of codons in del cdnaseq = 596 last codon in array is g cca (P) gtc (V) acc (T) ttt (F) cac (H) ttc (F) ttg (L) gcc (A) aaa (K) cca (P) gtc (V) acc (T) tta (L) ctt (L) ctt (L) ggc (G) original frameshift length = 9 frameshift length = 9 frameshifted sequence: tta (L) ctt (L) ctt (L) ggc (G) caa (Q) att (I) tta (L) tcc (S) tga (TER) wild type sequence in deletion region: ttt (F) cac (H) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 9 94 F 102 * 9 soft_tissue NF2 1 c.289_289delT p.L97fs*26 length of cdnaseq = 1788 length of protseq = 595 289 289 T 1 97 1 97 1 t Total no. of codons in cdna seq = 596 ttg ttg prev c start c-t end t-t --- -tg frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag ttt (F) cac (H) ttc (F) ttg (L) ttg (L) gcc (A) aaa (K) ttt (F) tat (Y) ttt (F) cac (H) ttc (F) tgg (W) cca (P) aat (N) ttt (F) original frameshift length = 26 frameshift length = 26 frameshifted sequence: tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: ttg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 26 97 L 122 * 26 soft_tissue NF2 1 c.298_298delT p.Y101fs*22 length of cdnaseq = 1788 length of protseq = 595 298 298 T 1 100 1 100 1 t Total no. of codons in cdna seq = 596 ttt ttt prev a start a-t end t-t --- -tt frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag ttg (L) gcc (A) aaa (K) ttt (F) ttt (F) tat (Y) cct (P) gag (E) aat (N) ttg (L) gcc (A) aaa (K) ttt (F) atc (I) ctg (L) aga (R) original frameshift length = 23 frameshift length = 23 frameshifted sequence: ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttt (F) ttt (F) first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 22 101 Y 122 * 22 soft_tissue NF2 1 c.304_304delC p.P102fs*21 length of cdnaseq = 1788 length of protseq = 595 304 304 C 1 102 1 102 1 c Total no. of codons in cdna seq = 596 cct cct prev t start t-c end c-c --- -ct frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag aaa (K) ttt (F) tat (Y) cct (P) cct (P) gag (E) aat (N) gct (A) gaa (E) aaa (K) ttt (F) tat (Y) ctg (L) aga (R) atg (M) ctg (L) original frameshift length = 21 frameshift length = 21 frameshifted sequence: ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 21 102 P 122 * 21 soft_tissue NF2 1 c.305_305delC p.P102fs*21 length of cdnaseq = 1788 length of protseq = 595 305 305 C 1 102 2 102 2 c Total no. of codons in cdna seq = 596 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag aaa (K) ttt (F) tat (Y) cct (P) cct (P) gag (E) aat (N) gct (A) gaa (E) aaa (K) ttt (F) tat (Y) ctg (L) aga (R) atg (M) ctg (L) original frameshift length = 21 frameshift length = 21 frameshifted sequence: ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 21 102 P 122 * 21 soft_tissue NF2 1 c.324_324delG p.E108fs*15 length of cdnaseq = 1788 length of protseq = 595 324 324 G 1 108 3 108 3 g Total no. of codons in cdna seq = 596 gag gag start a-g post c end g-c ga- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag gct (A) gaa (E) gag (E) gag (E) gag (E) ctg (L) gtt (V) cag (Q) gag (E) gct (A) gaa (E) gag (E) gac (D) tgg (W) ttc (F) agg (R) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gac (D) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 15 108 E 122 * 15 soft_tissue NF2 1 c.339_339delC p.T114fs*9 length of cdnaseq = 1788 length of protseq = 595 339 339 C 1 113 3 113 3 c Total no. of codons in cdna seq = 596 atc atc start t-c post a end c-a at- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 596 last codon in array is ag gtt (V) cag (Q) gag (E) atc (I) atc (I) aca (T) caa (Q) cat (H) tta (L) gtt (V) cag (Q) gag (E) ata (I) cac (H) aac (N) att (I) original frameshift length = 10 frameshift length = 10 frameshifted sequence: ata (I) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: atc (I) ata (I) first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 9 114 T 122 * 9 soft_tissue NF2 1 c.365_447del83 p.K123fs*2 length of cdnaseq = 1788 length of protseq = 595 365 447 83 83 122 2 149 3 taaagaagcagattttagatgaaaagatctactgccctcctgaggcttctgtgctcctggcttcttacgccgtccaggccaag Total no. of codons in cdna seq = 596 gta aag start g-t post t end g-t g-- --- frameshift deletion length of cdnaseq after deletion = 1705 ter codon is tga at posn 124 Protein length after deletion = 123 Total no. of codons in del cdnaseq = 569 last codon in array is g ttc (F) tta (L) cag (Q) gta (V) aag (K) tat (Y) ggt (G) gac (D) tac (Y) ttc (F) tta (L) cag (Q) gta (V) tgg (W) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gta (V) tgg (W) tga (TER) wild type sequence in deletion region: gta (V) aag (K) aag (K) cag (Q) att (I) tta (L) gat (D) gaa (E) aag (K) atc (I) tac (Y) tgc (C) cct (P) cct (P) gag (E) gct (A) tct (S) gtg (V) ctc (L) ctg (L) gct (A) tct (S) tac (Y) gcc (A) gtc (V) cag (Q) gcc (A) aag (K) wt frameshift deln region length = 28 matching aa in delstart region of wt and deletion mutant: gta (V) gta (V) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 2 123 K 124 * 2 soft_tissue NF2 1 c.37_88del52 p.S13fs*10 length of cdnaseq = 1788 length of protseq = 595 37 88 52 52 13 1 30 1 tctctcaagaggaagcaacccaagacgttcaccgtgaggatcgtcaccatgg Total no. of codons in cdna seq = 596 tct gac prev c start c-t end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 1736 ter codon is tga at posn 22 Protein length after deletion = 21 Total no. of codons in del cdnaseq = 579 last codon in array is ag agc (S) ttc (F) agc (S) tct (S) gac (D) gcc (A) gag (E) atg (M) gag (E) agc (S) ttc (F) agc (S) acg (T) ccg (P) aga (R) tgg (W) original frameshift length = 10 frameshift length = 10 frameshifted sequence: acg (T) ccg (P) aga (R) tgg (W) agt (S) tca (S) att (I) gcg (A) aga (R) tga (TER) wild type sequence in deletion region: tct (S) ctc (L) aag (K) agg (R) aag (K) caa (Q) ccc (P) aag (K) acg (T) ttc (F) acc (T) gtg (V) agg (R) atc (I) gtc (V) acc (T) atg (M) gac (D) wt frameshift deln region length = 18 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 10 13 S 22 * 10 soft_tissue NF2 1 c.399_399delC p.P134fs*40 length of cdnaseq = 1788 length of protseq = 595 399 399 C 1 133 3 133 3 c Total no. of codons in cdna seq = 596 tgc tgc start g-c post c end c-c tg- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) atc (I) tac (Y) tgc (C) tgc (C) cct (P) cct (P) gag (E) gct (A) aag (K) atc (I) tac (Y) tgc (C) ctc (L) ctg (L) agg (R) original frameshift length = 41 frameshift length = 41 frameshifted sequence: tgc (C) ctc (L) ctg (L) agg (R) ctt (L) ctg (L) tgc (C) tcc (S) tgg (W) ctt (L) ctt (L) acg (T) ccg (P) tcc (S) agg (R) cca (P) agt (S) atg (M) gtg (V) act (T) acg (T) acc (T) cca (P) gtg (V) ttc (F) aca (T) agc (S) ggg (G) gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: tgc (C) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tgc (C) tgc (C) first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 40 134 P 173 * 40 soft_tissue NF2 1 c.421_424delCTGG p.A142fs*31 length of cdnaseq = 1788 length of protseq = 595 421 424 CTGG 4 141 1 142 1 ctgg Total no. of codons in cdna seq = 596 ctg gct prev c start c-c end g-c --- -ct frameshift deletion length of cdnaseq after deletion = 1784 ter codon is taa at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 595 last codon in array is ag tct (S) gtg (V) ctc (L) ctg (L) gct (A) tct (S) tac (Y) gcc (A) gtc (V) tct (S) gtg (V) ctc (L) ctt (L) ctt (L) acg (T) ccg (P) original frameshift length = 32 frameshift length = 32 frameshifted sequence: ctt (L) ctt (L) acg (T) ccg (P) tcc (S) agg (R) cca (P) agt (S) atg (M) gtg (V) act (T) acg (T) acc (T) cca (P) gtg (V) ttc (F) aca (T) agc (S) ggg (G) gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: ctg (L) gct (A) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctg (L) ctt (L) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 31 142 A 172 * 31 soft_tissue NF2 1 c.424_431delGCTTCTTA p.A142fs*8 length of cdnaseq = 1788 length of protseq = 595 424 431 GCTTCTTA 8 142 1 144 2 gcttctta Total no. of codons in cdna seq = 596 gct tac prev g start g-g end a-c --- --c frameshift deletion length of cdnaseq after deletion = 1780 ter codon is tga at posn 149 Protein length after deletion = 148 Total no. of codons in del cdnaseq = 594 last codon in array is g gtg (V) ctc (L) ctg (L) gct (A) tac (Y) gcc (A) gtc (V) cag (Q) gcc (A) gtg (V) ctc (L) ctg (L) cgc (R) cgt (R) cca (P) ggc (G) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cgc (R) cgt (R) cca (P) ggc (G) caa (Q) gta (V) tgg (W) tga (TER) wild type sequence in deletion region: gct (A) tct (S) tac (Y) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 8 142 A 149 * 8 soft_tissue NF2 1 c.428_438del11 p.Y144fs*5 length of cdnaseq = 1788 length of protseq = 595 428 438 11 11 143 2 146 3 cttacgccgtc Total no. of codons in cdna seq = 596 tct gtc start t-c post c end c-c t-- --- frameshift deletion length of cdnaseq after deletion = 1777 ter codon is tga at posn 148 Protein length after deletion = 147 Total no. of codons in del cdnaseq = 593 last codon in array is g ctc (L) ctg (L) gct (A) tct (S) gtc (V) cag (Q) gcc (A) aag (K) tat (Y) ctc (L) ctg (L) gct (A) tca (S) ggc (G) caa (Q) gta (V) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tca (S) ggc (G) caa (Q) gta (V) tgg (W) tga (TER) wild type sequence in deletion region: tct (S) tac (Y) gcc (A) gtc (V) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: tct (S) tca (S) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 5 144 Y 148 * 5 soft_tissue NF2 1 c.439_439delC p.Q147fs*27 length of cdnaseq = 1788 length of protseq = 595 439 439 C 1 147 1 147 1 c Total no. of codons in cdna seq = 596 cag cag prev c start c-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag tac (Y) gcc (A) gtc (V) cag (Q) cag (Q) gcc (A) aag (K) tat (Y) ggt (G) tac (Y) gcc (A) gtc (V) agg (R) cca (P) agt (S) atg (M) original frameshift length = 27 frameshift length = 27 frameshifted sequence: agg (R) cca (P) agt (S) atg (M) gtg (V) act (T) acg (T) acc (T) cca (P) gtg (V) ttc (F) aca (T) agc (S) ggg (G) gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 27 147 Q 173 * 27 soft_tissue NF2 1 c.440_492del53 p.Q147fs*38 length of cdnaseq = 1788 length of protseq = 595 440 492 53 53 147 2 164 3 aggccaagtatggtgactacgaccccagtgttcacaagcggggatttttggcc Total no. of codons in cdna seq = 596 cag gcc start c-a post c end c-c c-- --- frameshift deletion length of cdnaseq after deletion = 1735 ter codon is tga at posn 184 Protein length after deletion = 183 Total no. of codons in del cdnaseq = 579 last codon in array is g tac (Y) gcc (A) gtc (V) cag (Q) gcc (A) caa (Q) gag (E) gaa (E) ttg (L) tac (Y) gcc (A) gtc (V) cca (P) aga (R) gga (G) att (I) original frameshift length = 38 frameshift length = 38 frameshifted sequence: cca (P) aga (R) gga (G) att (I) gct (A) tcc (S) aaa (K) aag (K) ggt (G) aat (N) aaa (K) tct (S) gta (V) tca (S) gat (D) gac (D) tcc (S) gga (G) aat (N) gtg (V) gga (G) gga (G) gag (E) aat (N) tac (Y) tgc (C) ttg (L) gta (V) cgc (R) aga (R) gca (A) ccg (P) agg (R) ccg (P) agc (S) cag (Q) gga (G) tga (TER) wild type sequence in deletion region: cag (Q) gcc (A) aag (K) tat (Y) ggt (G) gac (D) tac (Y) gac (D) ccc (P) agt (S) gtt (V) cac (H) aag (K) cgg (R) gga (G) ttt (F) ttg (L) gcc (A) wt frameshift deln region length = 18 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 38 147 Q 184 * 38 soft_tissue NF2 1 c.441_441delG p.A148fs*26 length of cdnaseq = 1788 length of protseq = 595 441 441 G 1 147 3 147 3 g Total no. of codons in cdna seq = 596 cag cag start a-g post g end g-g ca- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag tac (Y) gcc (A) gtc (V) cag (Q) cag (Q) gcc (A) aag (K) tat (Y) ggt (G) tac (Y) gcc (A) gtc (V) cag (Q) cca (P) agt (S) atg (M) original frameshift length = 27 frameshift length = 27 frameshifted sequence: cag (Q) cca (P) agt (S) atg (M) gtg (V) act (T) acg (T) acc (T) cca (P) gtg (V) ttc (F) aca (T) agc (S) ggg (G) gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cag (Q) cag (Q) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 26 148 A 173 * 26 soft_tissue NF2 1 c.447_447delG p.K149fs*25 length of cdnaseq = 1788 length of protseq = 595 447 447 G 1 149 3 149 3 g Total no. of codons in cdna seq = 596 aag aag start a-g post t end g-t aa- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag gtc (V) cag (Q) gcc (A) aag (K) aag (K) tat (Y) ggt (G) gac (D) tac (Y) gtc (V) cag (Q) gcc (A) aat (N) atg (M) gtg (V) act (T) original frameshift length = 25 frameshift length = 25 frameshifted sequence: aat (N) atg (M) gtg (V) act (T) acg (T) acc (T) cca (P) gtg (V) ttc (F) aca (T) agc (S) ggg (G) gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 25 149 K 173 * 25 soft_tissue NF2 1 c.45_45delG p.R16fs*9 length of cdnaseq = 1788 length of protseq = 595 45 45 G 1 15 3 15 3 g Total no. of codons in cdna seq = 596 aag aag start a-g post a end g-a aa- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 24 Protein length after deletion = 23 Total no. of codons in del cdnaseq = 596 last codon in array is ag agc (S) tct (S) ctc (L) aag (K) aag (K) agg (R) aag (K) caa (Q) ccc (P) agc (S) tct (S) ctc (L) aaa (K) gga (G) agc (S) aac (N) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aaa (K) gga (G) agc (S) aac (N) cca (P) aga (R) cgt (R) tca (S) ccg (P) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aag (K) aaa (K) first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 9 16 R 24 * 9 soft_tissue NF2 1 c.459_459delC p.Y153fs*1 length of cdnaseq = 1788 length of protseq = 595 459 459 C 1 153 3 153 3 c Total no. of codons in cdna seq = 596 tac tac start a-c post g end c-g ta- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tag at posn 153 Protein length after deletion = 152 Total no. of codons in del cdnaseq = 596 last codon in array is ag tat (Y) ggt (G) gac (D) tac (Y) tac (Y) gac (D) ccc (P) agt (S) gtt (V) tat (Y) ggt (G) gac (D) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 1 153 Y 153 * 1 soft_tissue NF2 1 c.472_473delCA p.H158fs*44 length of cdnaseq = 1788 length of protseq = 595 472 473 CA 2 158 1 158 2 ca Total no. of codons in cdna seq = 596 cac cac prev t start t-c end a-c --- --c frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 596 last codon in array is g ccc (P) agt (S) gtt (V) cac (H) cac (H) aag (K) cgg (R) gga (G) ttt (F) ccc (P) agt (S) gtt (V) caa (Q) gcg (A) ggg (G) att (I) original frameshift length = 44 frameshift length = 44 frameshifted sequence: caa (Q) gcg (A) ggg (G) att (I) ttt (F) ggc (G) cca (P) aga (R) gga (G) att (I) gct (A) tcc (S) aaa (K) aag (K) ggt (G) aat (N) aaa (K) tct (S) gta (V) tca (S) gat (D) gac (D) tcc (S) gga (G) aat (N) gtg (V) gga (G) gga (G) gag (E) aat (N) tac (Y) tgc (C) ttg (L) gta (V) cgc (R) aga (R) gca (A) ccg (P) agg (R) ccg (P) agc (S) cag (Q) gga (G) tga (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 44 158 H 201 * 44 soft_tissue NF2 1 c.479_479delG p.G161fs*13 length of cdnaseq = 1788 length of protseq = 595 479 479 G 1 160 2 160 2 g Total no. of codons in cdna seq = 596 cgg cgg start c-g end g-g c-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag gtt (V) cac (H) aag (K) cgg (R) cgg (R) gga (G) ttt (F) ttg (L) gcc (A) gtt (V) cac (H) aag (K) cgg (R) gat (D) ttt (F) tgg (W) original frameshift length = 14 frameshift length = 14 frameshifted sequence: cgg (R) gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgg (R) cgg (R) first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 13 161 G 173 * 13 soft_tissue NF2 1 c.482_482delG p.G161fs*13 length of cdnaseq = 1788 length of protseq = 595 482 482 G 1 161 2 161 2 g Total no. of codons in cdna seq = 596 gga gga start g-g end g-a g-- --a frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag cac (H) aag (K) cgg (R) gga (G) gga (G) ttt (F) ttg (L) gcc (A) caa (Q) cac (H) aag (K) cgg (R) gat (D) ttt (F) tgg (W) ccc (P) original frameshift length = 13 frameshift length = 13 frameshifted sequence: gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 13 161 G 173 * 13 soft_tissue NF2 1 c.489_541del53 p.L163fs*22 length of cdnaseq = 1788 length of protseq = 595 489 541 53 53 163 3 181 1 ggcccaagaggaattgcttccaaaaagggtaataaatctgtatcagatgactc Total no. of codons in cdna seq = 596 ttg ccg start t-g end c-c tt- -cg frameshift deletion length of cdnaseq after deletion = 1735 ter codon is tga at posn 184 Protein length after deletion = 183 Total no. of codons in del cdnaseq = 579 last codon in array is g cgg (R) gga (G) ttt (F) ttg (L) ccg (P) gaa (E) atg (M) tgg (W) gag (E) cgg (R) gga (G) ttt (F) ttc (F) gga (G) aat (N) gtg (V) original frameshift length = 22 frameshift length = 22 frameshifted sequence: ttc (F) gga (G) aat (N) gtg (V) gga (G) gga (G) gag (E) aat (N) tac (Y) tgc (C) ttg (L) gta (V) cgc (R) aga (R) gca (A) ccg (P) agg (R) ccg (P) agc (S) cag (Q) gga (G) tga (TER) wild type sequence in deletion region: ttg (L) gcc (A) caa (Q) gag (E) gaa (E) ttg (L) ctt (L) cca (P) aaa (K) agg (R) gta (V) ata (I) aat (N) ctg (L) tat (Y) cag (Q) atg (M) act (T) ccg (P) wt frameshift deln region length = 19 first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 22 163 L 184 * 22 soft_tissue NF2 1 c.490_496delGCCCAAG p.A164fs*8 length of cdnaseq = 1788 length of protseq = 595 490 496 GCCCAAG 7 164 1 166 1 gcccaag Total no. of codons in cdna seq = 596 gcc gag prev g start g-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 1781 ter codon is taa at posn 171 Protein length after deletion = 170 Total no. of codons in del cdnaseq = 594 last codon in array is ag gga (G) ttt (F) ttg (L) gcc (A) gag (E) gaa (E) ttg (L) ctt (L) cca (P) gga (G) ttt (F) ttg (L) agg (R) aat (N) tgc (C) ttc (F) original frameshift length = 8 frameshift length = 8 frameshifted sequence: agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: gcc (A) caa (Q) gag (E) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 8 164 A 171 * 8 soft_tissue NF2 1 c.500_501delAA p.E167fs*35 length of cdnaseq = 1788 length of protseq = 595 500 501 AA 2 167 2 167 3 aa Total no. of codons in cdna seq = 596 gaa gaa start g-a post t end a-t g-- --- frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 596 last codon in array is g gcc (A) caa (Q) gag (E) gaa (E) gaa (E) ttg (L) ctt (L) cca (P) aaa (K) gcc (A) caa (Q) gag (E) gtt (V) gct (A) tcc (S) aaa (K) original frameshift length = 35 frameshift length = 35 frameshifted sequence: gtt (V) gct (A) tcc (S) aaa (K) aag (K) ggt (G) aat (N) aaa (K) tct (S) gta (V) tca (S) gat (D) gac (D) tcc (S) gga (G) aat (N) gtg (V) gga (G) gga (G) gag (E) aat (N) tac (Y) tgc (C) ttg (L) gta (V) cgc (R) aga (R) gca (A) ccg (P) agg (R) ccg (P) agc (S) cag (Q) gga (G) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 35 167 E 201 * 35 soft_tissue NF2 1 c.506_506delT p.P170fs*4 length of cdnaseq = 1788 length of protseq = 595 506 506 T 1 169 2 169 2 t Total no. of codons in cdna seq = 596 ctt ctt start c-t end t-t c-- --t frameshift deletion length of cdnaseq after deletion = 1787 ter codon is taa at posn 173 Protein length after deletion = 172 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) gaa (E) ttg (L) ctt (L) ctt (L) cca (P) aaa (K) agg (R) gta (V) gag (E) gaa (E) ttg (L) ctc (L) caa (Q) aaa (K) ggg (G) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ctc (L) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctt (L) ctc (L) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 4 170 P 173 * 4 soft_tissue NF2 1 c.606_606delA p.A203fs*6 length of cdnaseq = 1788 length of protseq = 595 606 606 A 1 202 3 202 3 a Total no. of codons in cdna seq = 596 gaa gaa start a-a post g end a-g ga- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 208 Protein length after deletion = 207 Total no. of codons in del cdnaseq = 596 last codon in array is ag gcc (A) agg (R) gat (D) gaa (E) gaa (E) gct (A) gaa (E) atg (M) gaa (E) gcc (A) agg (R) gat (D) gag (E) ctg (L) aaa (K) tgg (W) original frameshift length = 7 frameshift length = 7 frameshifted sequence: gag (E) ctg (L) aaa (K) tgg (W) aat (N) atc (I) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gag (E) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 6 203 A 208 * 6 soft_tissue NF2 1 c.610_626del17 p.E204fs*18 length of cdnaseq = 1788 length of protseq = 595 610 626 17 17 204 1 209 2 gaaatggaatatctgaa Total no. of codons in cdna seq = 596 gaa aag prev t start t-g end a-g --- --g frameshift deletion length of cdnaseq after deletion = 1771 ter codon is taa at posn 221 Protein length after deletion = 220 Total no. of codons in del cdnaseq = 591 last codon in array is g gat (D) gaa (E) gct (A) gaa (E) aag (K) ata (I) gct (A) cag (Q) gac (D) gat (D) gaa (E) gct (A) gat (D) agc (S) tca (S) gga (G) original frameshift length = 18 frameshift length = 18 frameshifted sequence: gat (D) agc (S) tca (S) gga (G) cct (P) gga (G) gat (D) gta (V) cgg (R) tgt (C) gaa (E) cta (L) ctt (L) tgc (C) aat (N) ccg (P) gaa (E) taa (TER) wild type sequence in deletion region: gaa (E) atg (M) gaa (E) tat (Y) ctg (L) aag (K) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 18 204 E 221 * 18 soft_tissue NF2 1 c.616_616delG p.E206fs*3 length of cdnaseq = 1788 length of protseq = 595 616 616 G 1 206 1 206 1 g Total no. of codons in cdna seq = 596 gaa gaa prev g start g-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 208 Protein length after deletion = 207 Total no. of codons in del cdnaseq = 596 last codon in array is ag gct (A) gaa (E) atg (M) gaa (E) gaa (E) tat (Y) ctg (L) aag (K) ata (I) gct (A) gaa (E) atg (M) aat (N) atc (I) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aat (N) atc (I) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 3 206 E 208 * 3 soft_tissue NF2 1 c.618_669del52 p.Y207fs*27 length of cdnaseq = 1788 length of protseq = 595 618 669 52 52 206 3 223 3 atatctgaagatagctcaggacctggagatgtacggtgtgaactactttgca Total no. of codons in cdna seq = 596 gaa gca start a-a post a end a-a ga- --- frameshift deletion length of cdnaseq after deletion = 1736 ter codon is tga at posn 233 Protein length after deletion = 232 Total no. of codons in del cdnaseq = 579 last codon in array is ag gct (A) gaa (E) atg (M) gaa (E) gca (A) atc (I) cgg (R) aat (N) aaa (K) gct (A) gaa (E) atg (M) gaa (E) tcc (S) gga (G) ata (I) original frameshift length = 28 frameshift length = 28 frameshifted sequence: gaa (E) tcc (S) gga (G) ata (I) aaa (K) agg (R) gca (A) cag (Q) agc (S) tgc (C) tgc (C) ttg (L) gag (E) tgg (W) atg (M) ccc (P) tgg (W) ggc (G) ttc (F) aca (T) ttt (F) atg (M) acc (T) ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: gaa (E) tat (Y) ctg (L) aag (K) ata (I) gct (A) cag (Q) gac (D) ctg (L) gag (E) atg (M) tac (Y) ggt (G) gtg (V) aac (N) tac (Y) ttt (F) gca (A) wt frameshift deln region length = 18 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 27 207 Y 233 * 27 soft_tissue NF2 1 c.623_674del52 p.L208fs*26 length of cdnaseq = 1788 length of protseq = 595 623 674 52 52 208 2 225 2 tgaagatagctcaggacctggagatgtacggtgtgaactactttgcaatccg Total no. of codons in cdna seq = 596 ctg cgg start c-t end g-g c-- --g frameshift deletion length of cdnaseq after deletion = 1736 ter codon is tga at posn 233 Protein length after deletion = 232 Total no. of codons in del cdnaseq = 579 last codon in array is ag atg (M) gaa (E) tat (Y) ctg (L) cgg (R) aat (N) aaa (K) aag (K) ggc (G) atg (M) gaa (E) tat (Y) cga (R) ata (I) aaa (K) agg (R) original frameshift length = 26 frameshift length = 26 frameshifted sequence: cga (R) ata (I) aaa (K) agg (R) gca (A) cag (Q) agc (S) tgc (C) tgc (C) ttg (L) gag (E) tgg (W) atg (M) ccc (P) tgg (W) ggc (G) ttc (F) aca (T) ttt (F) atg (M) acc (T) ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: ctg (L) aag (K) ata (I) gct (A) cag (Q) gac (D) ctg (L) gag (E) atg (M) tac (Y) ggt (G) gtg (V) aac (N) tac (Y) ttt (F) gca (A) atc (I) cgg (R) wt frameshift deln region length = 18 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 26 208 L 233 * 26 soft_tissue NF2 1 c.640_640delC p.L214fs*6 length of cdnaseq = 1788 length of protseq = 595 640 640 C 1 214 1 214 1 c Total no. of codons in cdna seq = 596 ctg ctg prev c start c-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 219 Protein length after deletion = 218 Total no. of codons in del cdnaseq = 596 last codon in array is ag gct (A) cag (Q) gac (D) ctg (L) ctg (L) gag (E) atg (M) tac (Y) ggt (G) gct (A) cag (Q) gac (D) tgg (W) aga (R) tgt (C) acg (T) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tgg (W) aga (R) tgt (C) acg (T) gtg (V) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 6 214 L 219 * 6 soft_tissue NF2 1 c.642_667del26 p.E215fs*4 length of cdnaseq = 1788 length of protseq = 595 642 667 26 26 214 3 223 1 ggagatgtacggtgtgaactactttg Total no. of codons in cdna seq = 596 ctg gca start t-g end g-c ct- -ca frameshift deletion length of cdnaseq after deletion = 1762 ter codon is taa at posn 218 Protein length after deletion = 217 Total no. of codons in del cdnaseq = 588 last codon in array is g gct (A) cag (Q) gac (D) ctg (L) gca (A) atc (I) cgg (R) aat (N) aaa (K) gct (A) cag (Q) gac (D) ctc (L) aat (N) ccg (P) gaa (E) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ctc (L) aat (N) ccg (P) gaa (E) taa (TER) wild type sequence in deletion region: ctg (L) gag (E) atg (M) tac (Y) ggt (G) gtg (V) aac (N) tac (Y) ttt (F) gca (A) wt frameshift deln region length = 10 matching aa in delstart region of wt and deletion mutant: ctg (L) ctc (L) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 4 215 E 218 * 4 soft_tissue NF2 1 c.643_656del14 p.M216fs*7 length of cdnaseq = 1788 length of protseq = 595 643 656 14 14 215 1 219 2 gagatgtacggtgt Total no. of codons in cdna seq = 596 gag gtg prev g start g-g end t-g --- --g frameshift deletion length of cdnaseq after deletion = 1774 ter codon is taa at posn 222 Protein length after deletion = 221 Total no. of codons in del cdnaseq = 592 last codon in array is g cag (Q) gac (D) ctg (L) gag (E) gtg (V) aac (N) tac (Y) ttt (F) gca (A) cag (Q) gac (D) ctg (L) gaa (E) cta (L) ctt (L) tgc (C) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gaa (E) cta (L) ctt (L) tgc (C) aat (N) ccg (P) gaa (E) taa (TER) wild type sequence in deletion region: gag (E) atg (M) tac (Y) ggt (G) gtg (V) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: gag (E) gaa (E) first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 7 216 M 222 * 7 soft_tissue NF2 1 c.653_653delG p.G218fs*2 length of cdnaseq = 1788 length of protseq = 595 653 653 G 1 218 2 218 2 g Total no. of codons in cdna seq = 596 ggt ggt start g-g end g-t g-- --t frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 219 Protein length after deletion = 218 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) atg (M) tac (Y) ggt (G) ggt (G) gtg (V) aac (N) tac (Y) ttt (F) gag (E) atg (M) tac (Y) gtg (V) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gtg (V) tga (TER) wild type sequence in deletion region: ggt (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 2 218 G 219 * 2 soft_tissue NF2 1 c.675_810del136 p.N226fs*25 length of cdnaseq = 1788 length of protseq = 595 675 810 136 136 225 3 270 3 gaataaaaagggcacagagctgctgcttggagtggatgccctggggcttcacatttatgaccctgagaacagactgacccccaagatctccttcccgtggaatgaaatccgaaacatctcgtacagtgacaaggag Total no. of codons in cdna seq = 596 cgg gag start g-g post t end g-t cg- --- frameshift deletion length of cdnaseq after deletion = 1652 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 551 last codon in array is ag ttt (F) gca (A) atc (I) cgg (R) gag (E) ttt (F) act (T) att (I) aaa (K) ttt (F) gca (A) atc (I) cgt (R) tta (L) cta (L) tta (L) original frameshift length = 26 frameshift length = 26 frameshifted sequence: cgt (R) tta (L) cta (L) tta (L) aac (N) cac (H) tgg (W) ata (I) aga (R) aaa (K) ttg (L) atg (M) tct (S) tca (S) agt (S) tta (L) act (T) cct (P) caa (Q) agc (S) ttc (F) gtg (V) tta (L) ata (I) agc (S) tga (TER) wild type sequence in deletion region: cgg (R) aat (N) aaa (K) aag (K) ggc (G) aca (T) gag (E) ctg (L) ctg (L) ctt (L) gga (G) gtg (V) gat (D) gcc (A) ctg (L) ggg (G) ctt (L) cac (H) att (I) tat (Y) gac (D) cct (P) gag (E) aac (N) aga (R) ctg (L) acc (T) ccc (P) aag (K) atc (I) tcc (S) ttc (F) ccg (P) tgg (W) aat (N) gaa (E) atc (I) cga (R) aac (N) atc (I) tcg (S) tac (Y) agt (S) gac (D) aag (K) gag (E) wt frameshift deln region length = 46 matching aa in delstart region of wt and deletion mutant: cgg (R) cgt (R) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 25 226 N 250 * 25 soft_tissue NF2 1 c.713_713delC p.L239fs*12 length of cdnaseq = 1788 length of protseq = 595 713 713 C 1 238 2 238 2 c Total no. of codons in cdna seq = 596 gcc gcc start g-c end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 596 last codon in array is ag gga (G) gtg (V) gat (D) gcc (A) gcc (A) ctg (L) ggg (G) ctt (L) cac (H) gga (G) gtg (V) gat (D) gcc (A) tgg (W) ggc (G) ttc (F) original frameshift length = 13 frameshift length = 13 frameshifted sequence: gcc (A) tgg (W) ggc (G) ttc (F) aca (T) ttt (F) atg (M) acc (T) ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gcc (A) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 12 239 L 250 * 12 soft_tissue NF2 1 c.729_732delTTAT p.I243fs*7 length of cdnaseq = 1788 length of protseq = 595 729 732 TTAT 4 243 3 244 3 ttat Total no. of codons in cdna seq = 596 att tat start t-t post g end t-g at- --- frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 249 Protein length after deletion = 248 Total no. of codons in del cdnaseq = 595 last codon in array is ag ggg (G) ctt (L) cac (H) att (I) tat (Y) gac (D) cct (P) gag (E) aac (N) ggg (G) ctt (L) cac (H) atg (M) acc (T) ctg (L) aga (R) original frameshift length = 7 frameshift length = 7 frameshifted sequence: atg (M) acc (T) ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: att (I) tat (Y) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 7 243 I 249 * 7 soft_tissue NF2 1 c.732_732delT p.Y244fs*1 length of cdnaseq = 1788 length of protseq = 595 732 732 T 1 244 3 244 3 t Total no. of codons in cdna seq = 596 tat tat start a-t post g end t-g ta- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tag at posn 244 Protein length after deletion = 243 Total no. of codons in del cdnaseq = 596 last codon in array is ag ctt (L) cac (H) att (I) tat (Y) tat (Y) gac (D) cct (P) gag (E) aac (N) ctt (L) cac (H) att (I) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 244 Y 244 * 1 soft_tissue NF2 1 c.735_735delC p.P246fs*5 length of cdnaseq = 1788 length of protseq = 595 735 735 C 1 245 3 245 3 c Total no. of codons in cdna seq = 596 gac gac start a-c post c end c-c ga- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 596 last codon in array is ag cac (H) att (I) tat (Y) gac (D) gac (D) cct (P) gag (E) aac (N) aga (R) cac (H) att (I) tat (Y) gac (D) ctg (L) aga (R) aca (T) original frameshift length = 6 frameshift length = 6 frameshifted sequence: gac (D) ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gac (D) gac (D) first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 5 246 P 250 * 5 soft_tissue NF2 1 c.737_737delC p.P246fs*5 length of cdnaseq = 1788 length of protseq = 595 737 737 C 1 246 2 246 2 c Total no. of codons in cdna seq = 596 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 596 last codon in array is ag att (I) tat (Y) gac (D) cct (P) cct (P) gag (E) aac (N) aga (R) ctg (L) att (I) tat (Y) gac (D) ctg (L) aga (R) aca (T) gac (D) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 5 246 P 250 * 5 soft_tissue NF2 1 c.739_739delG p.E247fs*4 length of cdnaseq = 1788 length of protseq = 595 739 739 G 1 247 1 247 1 g Total no. of codons in cdna seq = 596 gag gag prev t start t-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 596 last codon in array is ag tat (Y) gac (D) cct (P) gag (E) gag (E) aac (N) aga (R) ctg (L) acc (T) tat (Y) gac (D) cct (P) aga (R) aca (T) gac (D) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 4 247 E 250 * 4 soft_tissue NF2 1 c.745_745delA p.R249fs*2 length of cdnaseq = 1788 length of protseq = 595 745 745 A 1 249 1 249 1 a Total no. of codons in cdna seq = 596 aga aga prev c start c-a end a-g --- -ga frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 596 last codon in array is ag cct (P) gag (E) aac (N) aga (R) aga (R) ctg (L) acc (T) ccc (P) aag (K) cct (P) gag (E) aac (N) gac (D) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gac (D) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 2 249 R 250 * 2 soft_tissue NF2 1 c.768_768delC p.P257fs*39 length of cdnaseq = 1788 length of protseq = 595 768 768 C 1 256 3 256 3 c Total no. of codons in cdna seq = 596 ttc ttc start t-c post c end c-c tt- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) atc (I) tcc (S) ttc (F) ttc (F) ccg (P) tgg (W) aat (N) gaa (E) aag (K) atc (I) tcc (S) ttc (F) cgt (R) gga (G) atg (M) original frameshift length = 40 frameshift length = 40 frameshifted sequence: ttc (F) cgt (R) gga (G) atg (M) aaa (K) tcc (S) gaa (E) aca (T) tct (S) cgt (R) aca (T) gtg (V) aca (T) agg (R) agt (S) tta (L) cta (L) tta (L) aac (N) cac (H) tgg (W) ata (I) aga (R) aaa (K) ttg (L) atg (M) tct (S) tca (S) agt (S) tta (L) act (T) cct (P) caa (Q) agc (S) ttc (F) gtg (V) tta (L) ata (I) agc (S) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttc (F) ttc (F) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 39 257 P 295 * 39 soft_tissue NF2 1 c.778_811del34 p.E260fs*25 length of cdnaseq = 1788 length of protseq = 595 778 811 34 34 260 1 271 1 gaaatccgaaacatctcgtacagtgacaaggagt Total no. of codons in cdna seq = 596 gaa ttt prev t start t-g end t-t --- -tt frameshift deletion length of cdnaseq after deletion = 1754 ter codon is tga at posn 284 Protein length after deletion = 283 Total no. of codons in del cdnaseq = 585 last codon in array is ag ccg (P) tgg (W) aat (N) gaa (E) ttt (F) act (T) att (I) aaa (K) cca (P) ccg (P) tgg (W) aat (N) tta (L) cta (L) tta (L) aac (N) original frameshift length = 25 frameshift length = 25 frameshifted sequence: tta (L) cta (L) tta (L) aac (N) cac (H) tgg (W) ata (I) aga (R) aaa (K) ttg (L) atg (M) tct (S) tca (S) agt (S) tta (L) act (T) cct (P) caa (Q) agc (S) ttc (F) gtg (V) tta (L) ata (I) agc (S) tga (TER) wild type sequence in deletion region: gaa (E) atc (I) cga (R) aac (N) atc (I) tcg (S) tac (Y) agt (S) gac (D) aag (K) gag (E) ttt (F) wt frameshift deln region length = 12 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 25 260 E 284 * 25 soft_tissue NF2 1 c.792_796delCTCGT p.S265fs*2 length of cdnaseq = 1788 length of protseq = 595 792 796 CTCGT 5 264 3 266 1 ctcgt Total no. of codons in cdna seq = 596 atc tac start t-c end t-a at- -ac frameshift deletion length of cdnaseq after deletion = 1783 ter codon is tga at posn 266 Protein length after deletion = 265 Total no. of codons in del cdnaseq = 595 last codon in array is g atc (I) cga (R) aac (N) atc (I) tac (Y) agt (S) gac (D) aag (K) gag (E) atc (I) cga (R) aac (N) ata (I) cag (Q) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: ata (I) cag (Q) tga (TER) wild type sequence in deletion region: atc (I) tcg (S) tac (Y) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: atc (I) ata (I) first wt aa affected by frameshift deletion is : tcg (S) final frameshift length = 2 265 S 266 * 2 soft_tissue NF2 1 c.838_842delATTGA p.I280fs*5 length of cdnaseq = 1788 length of protseq = 595 838 842 ATTGA 5 280 1 281 2 attga Total no. of codons in cdna seq = 596 att gat prev a start a-a end a-t --- --t frameshift deletion length of cdnaseq after deletion = 1783 ter codon is taa at posn 284 Protein length after deletion = 283 Total no. of codons in del cdnaseq = 595 last codon in array is g gat (D) aag (K) aaa (K) att (I) gat (D) gtc (V) ttc (F) aag (K) ttt (F) gat (D) aag (K) aaa (K) tgt (C) ctt (L) caa (Q) gtt (V) original frameshift length = 5 frameshift length = 5 frameshifted sequence: tgt (C) ctt (L) caa (Q) gtt (V) taa (TER) wild type sequence in deletion region: att (I) gat (D) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 5 280 I 284 * 5 soft_tissue NF2 1 c.844_844delG p.V282fs*14 length of cdnaseq = 1788 length of protseq = 595 844 844 G 1 282 1 282 1 g Total no. of codons in cdna seq = 596 gtc gtc prev t start t-g end g-t --- -tc frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 596 last codon in array is ag aaa (K) att (I) gat (D) gtc (V) gtc (V) ttc (F) aag (K) ttt (F) aac (N) aaa (K) att (I) gat (D) tct (S) tca (S) agt (S) tta (L) original frameshift length = 14 frameshift length = 14 frameshifted sequence: tct (S) tca (S) agt (S) tta (L) act (T) cct (P) caa (Q) agc (S) ttc (F) gtg (V) tta (L) ata (I) agc (S) tga (TER) wild type sequence in deletion region: gtc (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 14 282 V 295 * 14 soft_tissue NF2 1 c.88_109del22 p.D30fs*3 length of cdnaseq = 1788 length of protseq = 595 88 109 22 22 30 1 37 1 gacgccgagatggagttcaatt Total no. of codons in cdna seq = 596 gac tgc prev g start g-g end t-g --- -gc frameshift deletion length of cdnaseq after deletion = 1766 ter codon is tga at posn 32 Protein length after deletion = 31 Total no. of codons in del cdnaseq = 589 last codon in array is ag gtc (V) acc (T) atg (M) gac (D) tgc (C) gag (E) atg (M) aag (K) tgg (W) gtc (V) acc (T) atg (M) gcg (A) aga (R) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gcg (A) aga (R) tga (TER) wild type sequence in deletion region: gac (D) gcc (A) gag (E) atg (M) gag (E) ttc (F) aat (N) tgc (C) wt frameshift deln region length = 8 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 3 30 D 32 * 3 soft_tissue NF2 1 c.905_912delGGAACCAT p.N303fs*26 length of cdnaseq = 1788 length of protseq = 595 905 912 GGAACCAT 8 302 2 304 3 ggaaccat Total no. of codons in cdna seq = 596 ggg cat start g-g post g end t-g g-- --- frameshift deletion length of cdnaseq after deletion = 1780 ter codon is tag at posn 328 Protein length after deletion = 327 Total no. of codons in del cdnaseq = 594 last codon in array is g cta (L) tgt (C) atc (I) ggg (G) cat (H) gat (D) cta (L) ttt (F) atg (M) cta (L) tgt (C) atc (I) gga (G) tct (S) att (I) tat (Y) original frameshift length = 27 frameshift length = 27 frameshifted sequence: gga (G) tct (S) att (I) tat (Y) gag (E) gag (E) aag (K) gaa (E) agc (S) cga (R) ttc (F) ttt (F) gga (G) agt (S) tca (S) gca (A) gat (D) gaa (E) agc (S) cca (P) ggc (G) cag (Q) gga (G) gga (G) gaa (E) ggc (G) tag (TER) wild type sequence in deletion region: ggg (G) aac (N) cat (H) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 26 303 N 328 * 26 soft_tissue NF2 1 c.911_921del11 p.D305fs*23 length of cdnaseq = 1788 length of protseq = 595 911 921 11 11 304 2 307 3 atgatctattt Total no. of codons in cdna seq = 596 cat ttt start c-a post a end t-a c-- --- frameshift deletion length of cdnaseq after deletion = 1777 ter codon is tag at posn 327 Protein length after deletion = 326 Total no. of codons in del cdnaseq = 593 last codon in array is g atc (I) ggg (G) aac (N) cat (H) ttt (F) atg (M) agg (R) aga (R) agg (R) atc (I) ggg (G) aac (N) cat (H) gag (E) gag (E) aag (K) original frameshift length = 24 frameshift length = 24 frameshifted sequence: cat (H) gag (E) gag (E) aag (K) gaa (E) agc (S) cga (R) ttc (F) ttt (F) gga (G) agt (S) tca (S) gca (A) gat (D) gaa (E) agc (S) cca (P) ggc (G) cag (Q) gga (G) gga (G) gaa (E) ggc (G) tag (TER) wild type sequence in deletion region: cat (H) gat (D) cta (L) ttt (F) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: cat (H) cat (H) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 23 305 D 327 * 23 soft_tissue NF2 1 c.932_932delG p.A313fs*9 length of cdnaseq = 1788 length of protseq = 595 932 932 G 1 311 2 311 2 g Total no. of codons in cdna seq = 596 agg agg start a-g end g-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 321 Protein length after deletion = 320 Total no. of codons in del cdnaseq = 596 last codon in array is ag atg (M) agg (R) aga (R) agg (R) agg (R) aaa (K) gcc (A) gat (D) tct (S) atg (M) agg (R) aga (R) aga (R) aag (K) ccg (P) att (I) original frameshift length = 11 frameshift length = 11 frameshifted sequence: aga (R) aag (K) ccg (P) att (I) ctt (L) tgg (W) aag (K) ttc (F) agc (S) aga (R) tga (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agg (R) aga (R) matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 9 313 A 321 * 9 soft_tissue NF2 1 c.933_933delG p.A313fs*9 length of cdnaseq = 1788 length of protseq = 595 933 933 G 1 311 3 311 3 g Total no. of codons in cdna seq = 596 agg agg start g-g post a end g-a ag- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 321 Protein length after deletion = 320 Total no. of codons in del cdnaseq = 596 last codon in array is ag atg (M) agg (R) aga (R) agg (R) agg (R) aaa (K) gcc (A) gat (D) tct (S) atg (M) agg (R) aga (R) aga (R) aag (K) ccg (P) att (I) original frameshift length = 11 frameshift length = 11 frameshifted sequence: aga (R) aag (K) ccg (P) att (I) ctt (L) tgg (W) aag (K) ttc (F) agc (S) aga (R) tga (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agg (R) aga (R) matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 9 313 A 321 * 9 soft_tissue NF2 1 c.942_942delT p.S315fs*7 length of cdnaseq = 1788 length of protseq = 595 942 942 T 1 314 3 314 3 t Total no. of codons in cdna seq = 596 gat gat start a-t post t end t-t ga- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 321 Protein length after deletion = 320 Total no. of codons in del cdnaseq = 596 last codon in array is ag agg (R) aaa (K) gcc (A) gat (D) gat (D) tct (S) ttg (L) gaa (E) gtt (V) agg (R) aaa (K) gcc (A) gat (D) ctt (L) tgg (W) aag (K) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gat (D) ctt (L) tgg (W) aag (K) ttc (F) agc (S) aga (R) tga (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gat (D) gat (D) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 7 315 S 321 * 7 soft_tissue NF2 1 c.955_955delC p.Q319fs*3 length of cdnaseq = 1788 length of protseq = 595 955 955 C 1 319 1 319 1 c Total no. of codons in cdna seq = 596 cag cag prev t start t-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 321 Protein length after deletion = 320 Total no. of codons in del cdnaseq = 596 last codon in array is ag ttg (L) gaa (E) gtt (V) cag (Q) cag (Q) cag (Q) atg (M) aaa (K) gcc (A) ttg (L) gaa (E) gtt (V) agc (S) aga (R) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: agc (S) aga (R) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 3 319 Q 321 * 3 soft_tissue NF2 1 c.969_999del31 p.Q324fs*12 length of cdnaseq = 1788 length of protseq = 595 969 999 31 31 323 3 333 3 ccaggccagggaggagaaggctagaaagcag Total no. of codons in cdna seq = 596 gcc cag start c-c post a end g-a gc- --- frameshift deletion length of cdnaseq after deletion = 1757 ter codon is tga at posn 335 Protein length after deletion = 334 Total no. of codons in del cdnaseq = 586 last codon in array is ag cag (Q) atg (M) aaa (K) gcc (A) cag (Q) atg (M) gag (E) cgg (R) cag (Q) cag (Q) atg (M) aaa (K) gca (A) tgg (W) agc (S) ggc (G) original frameshift length = 13 frameshift length = 13 frameshifted sequence: gca (A) tgg (W) agc (S) ggc (G) agc (S) gcc (A) tcg (S) ctc (L) gag (E) aga (R) agc (S) aga (R) tga (TER) wild type sequence in deletion region: gcc (A) cag (Q) gcc (A) agg (R) gag (E) gag (E) aag (K) gct (A) aga (R) aag (K) cag (Q) wt frameshift deln region length = 11 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 12 324 Q 335 * 12 soft_tissue NF2 1 c.977_980delGGGA p.E327fs*18 length of cdnaseq = 1788 length of protseq = 595 977 980 GGGA 4 326 2 327 2 ggga Total no. of codons in cdna seq = 596 agg gag start a-g end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 344 Protein length after deletion = 343 Total no. of codons in del cdnaseq = 595 last codon in array is ag gcc (A) cag (Q) gcc (A) agg (R) gag (E) gag (E) aag (K) gct (A) aga (R) gcc (A) cag (Q) gcc (A) agg (R) aga (R) agg (R) cta (L) original frameshift length = 19 frameshift length = 19 frameshifted sequence: agg (R) aga (R) agg (R) cta (L) gaa (E) agc (S) aga (R) tgg (W) agc (S) ggc (G) agc (S) gcc (A) tcg (S) ctc (L) gag (E) aga (R) agc (S) aga (R) tga (TER) wild type sequence in deletion region: agg (R) gag (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: agg (R) agg (R) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 18 327 E 344 * 18 stomach NF2 1 c.683_683delA p.K228fs*23 length of cdnaseq = 1788 length of protseq = 595 683 683 A 1 228 2 228 2 a Total no. of codons in cdna seq = 596 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 596 last codon in array is ag cgg (R) aat (N) aaa (K) aag (K) aag (K) ggc (G) aca (T) gag (E) ctg (L) cgg (R) aat (N) aaa (K) agg (R) gca (A) cag (Q) agc (S) original frameshift length = 23 frameshift length = 23 frameshifted sequence: agg (R) gca (A) cag (Q) agc (S) tgc (C) tgc (C) ttg (L) gag (E) tgg (W) atg (M) ccc (P) tgg (W) ggc (G) ttc (F) aca (T) ttt (F) atg (M) acc (T) ctg (L) aga (R) aca (T) gac (D) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 23 228 K 250 * 23 meninges NF2 2 c.1001_1004delTGGA p.M334fs*11 length of cdnaseq = 1788 length of protseq = 595 1001 1004 TGGA 4 334 2 335 2 tgga Total no. of codons in cdna seq = 596 atg gag start a-t end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1784 ter codon is tga at posn 344 Protein length after deletion = 343 Total no. of codons in del cdnaseq = 595 last codon in array is ag aga (R) aag (K) cag (Q) atg (M) gag (E) cgg (R) cag (Q) cgc (R) ctc (L) aga (R) aag (K) cag (Q) agc (S) ggc (G) agc (S) gcc (A) original frameshift length = 11 frameshift length = 11 frameshifted sequence: agc (S) ggc (G) agc (S) gcc (A) tcg (S) ctc (L) gag (E) aga (R) agc (S) aga (R) tga (TER) wild type sequence in deletion region: atg (M) gag (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 11 334 M 344 * 11 meninges NF2 2 c.1132_1132delG p.E378fs*48 length of cdnaseq = 1788 length of protseq = 595 1132 1132 G 1 378 1 378 1 g Total no. of codons in cdna seq = 596 gag gag prev t start t-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 425 Protein length after deletion = 424 Total no. of codons in del cdnaseq = 596 last codon in array is ag atg (M) cgg (R) tct (S) gag (E) gag (E) gag (E) aca (T) gct (A) gac (D) atg (M) cgg (R) tct (S) agg (R) aga (R) cag (Q) ctg (L) original frameshift length = 48 frameshift length = 48 frameshifted sequence: agg (R) aga (R) cag (Q) ctg (L) acc (T) tgt (C) tgg (W) ctg (L) aaa (K) agg (R) ccc (P) aga (R) tca (S) ccg (P) agg (R) agg (R) agg (R) caa (Q) aac (N) ttc (F) tgg (W) ccc (P) aga (R) agg (R) ccg (P) cag (Q) agg (R) ctg (L) agc (S) agg (R) aaa (K) tgc (C) agc (S) gca (A) tca (S) agg (R) cca (P) cag (Q) cga (R) ttc (F) gca (A) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 48 378 E 425 * 48 meninges NF2 2 c.1198_1198delC p.Q400fs*26 length of cdnaseq = 1788 length of protseq = 595 1198 1198 C 1 400 1 400 1 c Total no. of codons in cdna seq = 596 cag cag prev c start c-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 425 Protein length after deletion = 424 Total no. of codons in del cdnaseq = 596 last codon in array is ag ctt (L) ctg (L) gcc (A) cag (Q) cag (Q) aag (K) gcc (A) gca (A) gag (E) ctt (L) ctg (L) gcc (A) aga (R) agg (R) ccg (P) cag (Q) original frameshift length = 26 frameshift length = 26 frameshifted sequence: aga (R) agg (R) ccg (P) cag (Q) agg (R) ctg (L) agc (S) agg (R) aaa (K) tgc (C) agc (S) gca (A) tca (S) agg (R) cca (P) cag (Q) cga (R) ttc (F) gca (A) cgg (R) agg (R) agg (R) aga (R) agc (S) gcc (A) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 26 400 Q 425 * 26 meninges NF2 2 c.128_131delGGAA p.K44fs*78 length of cdnaseq = 1788 length of protseq = 595 128 131 GGAA 4 43 2 44 2 ggaa Total no. of codons in cdna seq = 596 ggg aag start g-g end a-g g-- --g frameshift deletion length of cdnaseq after deletion = 1784 ter codon is taa at posn 121 Protein length after deletion = 120 Total no. of codons in del cdnaseq = 595 last codon in array is ag aag (K) tgg (W) aaa (K) ggg (G) aag (K) gac (D) ctc (L) ttt (F) gat (D) aag (K) tgg (W) aaa (K) ggg (G) acc (T) tct (S) ttg (L) original frameshift length = 79 frameshift length = 79 frameshifted sequence: ggg (G) acc (T) tct (S) ttg (L) att (I) tgg (W) tgt (C) gcc (A) gga (G) ctc (L) tgg (W) ggc (G) tcc (S) gag (E) aaa (K) cct (P) ggt (G) tct (S) ttg (L) gac (D) tgc (C) agt (S) aca (T) caa (Q) tca (S) agg (R) aca (T) cag (Q) tgg (W) cct (P) ggc (G) tca (S) aaa (K) tgg (W) aca (T) aga (R) agg (R) tac (Y) tgg (W) atc (I) atg (M) atg (M) ttt (F) caa (Q) agg (R) aag (K) aac (N) cag (Q) tca (S) cct (P) ttc (F) act (T) tct (S) tgg (W) cca (P) aat (N) ttt (F) atc (I) ctg (L) aga (R) atg (M) ctg (L) aag (K) agg (R) agc (S) tgg (W) ttc (F) agg (R) aga (R) tca (S) cac (H) aac (N) att (I) tat (Y) tct (S) tct (S) tac (Y) agg (R) taa (TER) wild type sequence in deletion region: ggg (G) aag (K) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ggg (G) ggg (G) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 78 44 K 121 * 78 meninges NF2 2 c.182_183delTC p.F62fs*23 length of cdnaseq = 1788 length of protseq = 595 182 183 TC 2 61 2 61 3 tc Total no. of codons in cdna seq = 596 ttc ttc start t-t post t end c-t t-- --- frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 84 Protein length after deletion = 83 Total no. of codons in del cdnaseq = 596 last codon in array is g gaa (E) acc (T) tgg (W) ttc (F) ttc (F) ttt (F) gga (G) ctg (L) cag (Q) gaa (E) acc (T) tgg (W) ttt (F) tgg (W) act (T) gca (A) original frameshift length = 24 frameshift length = 24 frameshifted sequence: ttt (F) tgg (W) act (T) gca (A) gta (V) cac (H) aat (N) caa (Q) gga (G) cac (H) agt (S) ggc (G) ctg (L) gct (A) caa (Q) aat (N) gga (G) caa (Q) gaa (E) ggt (G) act (T) gga (G) tca (S) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttc (F) ttt (F) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 23 62 F 84 * 23 meninges NF2 2 c.36_37delCT p.L14fs*34 length of cdnaseq = 1788 length of protseq = 595 36 37 CT 2 12 3 13 1 ct Total no. of codons in cdna seq = 596 agc tct start g-c end t-c ag- -ct frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 47 Protein length after deletion = 46 Total no. of codons in del cdnaseq = 596 last codon in array is g atg (M) agc (S) ttc (F) agc (S) tct (S) ctc (L) aag (K) agg (R) aag (K) atg (M) agc (S) ttc (F) agc (S) tct (S) caa (Q) gag (E) original frameshift length = 36 frameshift length = 36 frameshifted sequence: agc (S) tct (S) caa (Q) gag (E) gaa (E) gca (A) acc (T) caa (Q) gac (D) gtt (V) cac (H) cgt (R) gag (E) gat (D) cgt (R) cac (H) cat (H) gga (G) cgc (R) cga (R) gat (D) gga (G) gtt (V) caa (Q) ttg (L) cga (R) gat (D) gaa (E) gtg (V) gaa (E) agg (R) gaa (E) gga (G) cct (P) ctt (L) tga (TER) wild type sequence in deletion region: agc (S) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: agc (S) agc (S) matching aa in delstart region of wt and deletion mutant: tct (S) tct (S) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 34 14 L 47 * 34 meninges NF2 2 c.377_377delT p.L127fs*1 length of cdnaseq = 1788 length of protseq = 595 377 377 T 1 126 2 126 2 t Total no. of codons in cdna seq = 596 att att start a-t end t-t a-- --t frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tag at posn 127 Protein length after deletion = 126 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) aag (K) cag (Q) att (I) att (I) tta (L) gat (D) gaa (E) aag (K) aag (K) aag (K) cag (Q) att (I) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: att (I) tag (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: att (I) att (I) first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 1 127 L 127 * 1 meninges NF2 2 c.41_42delTC p.L14fs*34 length of cdnaseq = 1788 length of protseq = 595 41 42 TC 2 14 2 14 3 tc Total no. of codons in cdna seq = 596 ctc ctc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 47 Protein length after deletion = 46 Total no. of codons in del cdnaseq = 596 last codon in array is g ttc (F) agc (S) tct (S) ctc (L) ctc (L) aag (K) agg (R) aag (K) caa (Q) ttc (F) agc (S) tct (S) caa (Q) gag (E) gaa (E) gca (A) original frameshift length = 34 frameshift length = 34 frameshifted sequence: caa (Q) gag (E) gaa (E) gca (A) acc (T) caa (Q) gac (D) gtt (V) cac (H) cgt (R) gag (E) gat (D) cgt (R) cac (H) cat (H) gga (G) cgc (R) cga (R) gat (D) gga (G) gtt (V) caa (Q) ttg (L) cga (R) gat (D) gaa (E) gtg (V) gaa (E) agg (R) gaa (E) gga (G) cct (P) ctt (L) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 34 14 L 47 * 34 meninges NF2 2 c.453_465del13 p.D152fs*18 length of cdnaseq = 1788 length of protseq = 595 453 465 13 13 151 3 155 3 tgactacgacccc Total no. of codons in cdna seq = 596 ggt ccc start g-t post a end c-a gg- --- frameshift deletion length of cdnaseq after deletion = 1775 ter codon is taa at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 592 last codon in array is ag gcc (A) aag (K) tat (Y) ggt (G) ccc (P) agt (S) gtt (V) cac (H) aag (K) gcc (A) aag (K) tat (Y) gga (G) gtg (V) ttc (F) aca (T) original frameshift length = 19 frameshift length = 19 frameshifted sequence: gga (G) gtg (V) ttc (F) aca (T) agc (S) ggg (G) gat (D) ttt (F) tgg (W) ccc (P) aag (K) agg (R) aat (N) tgc (C) ttc (F) caa (Q) aaa (K) ggg (G) taa (TER) wild type sequence in deletion region: ggt (G) gac (D) tac (Y) gac (D) ccc (P) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: ggt (G) gga (G) first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 18 152 D 169 * 18 meninges NF2 2 c.70_70delG p.V24fs*1 length of cdnaseq = 1788 length of protseq = 595 70 70 G 1 24 1 24 1 g Total no. of codons in cdna seq = 596 gtg gtg prev c start c-g end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 24 Protein length after deletion = 23 Total no. of codons in del cdnaseq = 596 last codon in array is ag acg (T) ttc (F) acc (T) gtg (V) gtg (V) agg (R) atc (I) gtc (V) acc (T) acg (T) ttc (F) acc (T) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 1 24 V 24 * 1 meninges NF2 2 c.750_750delG p.T251fs*45 length of cdnaseq = 1788 length of protseq = 595 750 750 G 1 250 3 250 3 g Total no. of codons in cdna seq = 596 ctg ctg start t-g post a end g-a ct- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 596 last codon in array is ag gag (E) aac (N) aga (R) ctg (L) ctg (L) acc (T) ccc (P) aag (K) atc (I) gag (E) aac (N) aga (R) cta (L) ccc (P) cca (P) aga (R) original frameshift length = 46 frameshift length = 46 frameshifted sequence: cta (L) ccc (P) cca (P) aga (R) tct (S) cct (P) tcc (S) cgt (R) gga (G) atg (M) aaa (K) tcc (S) gaa (E) aca (T) tct (S) cgt (R) aca (T) gtg (V) aca (T) agg (R) agt (S) tta (L) cta (L) tta (L) aac (N) cac (H) tgg (W) ata (I) aga (R) aaa (K) ttg (L) atg (M) tct (S) tca (S) agt (S) tta (L) act (T) cct (P) caa (Q) agc (S) ttc (F) gtg (V) tta (L) ata (I) agc (S) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctg (L) cta (L) first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 45 251 T 295 * 45 meninges NF2 2 c.89_99del11 p.D30fs*15 length of cdnaseq = 1788 length of protseq = 595 89 99 11 11 30 2 33 3 acgccgagatg Total no. of codons in cdna seq = 596 gac atg start g-a post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 1777 ter codon is tga at posn 44 Protein length after deletion = 43 Total no. of codons in del cdnaseq = 593 last codon in array is g gtc (V) acc (T) atg (M) gac (D) atg (M) gag (E) ttc (F) aat (N) tgc (C) gtc (V) acc (T) atg (M) gga (G) gtt (V) caa (Q) ttg (L) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gga (G) gtt (V) caa (Q) ttg (L) cga (R) gat (D) gaa (E) gtg (V) gaa (E) agg (R) gaa (E) gga (G) cct (P) ctt (L) tga (TER) wild type sequence in deletion region: gac (D) gcc (A) gag (E) atg (M) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 15 30 D 44 * 15 soft_tissue NF2 2 c.1217_1218delAG p.E406fs*36 length of cdnaseq = 1788 length of protseq = 595 1217 1218 AG 2 406 2 406 3 ag Total no. of codons in cdna seq = 596 gag gag start g-a post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 1786 ter codon is tga at posn 441 Protein length after deletion = 440 Total no. of codons in del cdnaseq = 596 last codon in array is g gca (A) gag (E) gct (A) gag (E) gag (E) cag (Q) gaa (E) atg (M) cag (Q) gca (A) gag (E) gct (A) gca (A) gga (G) aat (N) gca (A) original frameshift length = 36 frameshift length = 36 frameshifted sequence: gca (A) gga (G) aat (N) gca (A) gcg (A) cat (H) caa (Q) ggc (G) cac (H) agc (S) gat (D) tcg (S) cac (H) gga (G) gga (G) gga (G) gaa (E) gcg (A) cct (P) gat (D) gga (G) gca (A) gaa (E) ggt (G) gct (A) gga (G) agc (S) cga (R) ggt (G) gct (A) ggc (G) act (T) gaa (E) gat (D) ggc (G) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 36 406 E 441 * 36 soft_tissue NF2 2 c.1373_1373delT p.L458fs*27 length of cdnaseq = 1788 length of protseq = 595 1373 1373 T 1 458 2 458 2 t Total no. of codons in cdna seq = 596 ctg ctg start c-t end t-g c-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 484 Protein length after deletion = 483 Total no. of codons in del cdnaseq = 596 last codon in array is ag aag (K) cag (Q) gac (D) ctg (L) ctg (L) cag (Q) gaa (E) gca (A) cgc (R) aag (K) cag (Q) gac (D) cgc (R) agg (R) aag (K) cac (H) original frameshift length = 27 frameshift length = 27 frameshifted sequence: cgc (R) agg (R) aag (K) cac (H) gcg (A) agg (R) cgg (R) agc (S) gaa (E) gag (E) cca (P) agc (S) aga (R) agc (S) tcc (S) tgg (W) aga (R) ttg (L) cca (P) cca (P) agc (S) cca (P) cgt (R) acc (T) cgc (R) cca (P) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 27 458 L 484 * 27 soft_tissue NF2 2 c.1469_1469delC p.P490fs*25 length of cdnaseq = 1788 length of protseq = 595 1469 1469 C 1 490 2 490 2 c Total no. of codons in cdna seq = 596 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 514 Protein length after deletion = 513 Total no. of codons in del cdnaseq = 596 last codon in array is ag att (I) cca (P) gca (A) ccg (P) ccg (P) ttg (L) cct (P) cct (P) gac (D) att (I) cca (P) gca (A) cgt (R) tgc (C) ctc (L) ctg (L) original frameshift length = 25 frameshift length = 25 frameshifted sequence: cgt (R) tgc (C) ctc (L) ctg (L) aca (T) tac (Y) caa (Q) gct (A) tca (S) acc (T) tca (S) ttg (L) gtg (V) aca (T) gcc (A) tgt (C) ctt (L) tcg (S) act (T) tca (S) aag (K) ata (I) ctg (L) aca (T) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 25 490 P 514 * 25 soft_tissue NF2 2 c.1614_1614delG p.Q538fs*12 length of cdnaseq = 1788 length of protseq = 595 1614 1614 G 1 538 3 538 3 g Total no. of codons in cdna seq = 596 cag cag start a-g post c end g-c ca- --- frameshift deletion length of cdnaseq after deletion = 1787 ter codon is tga at posn 549 Protein length after deletion = 548 Total no. of codons in del cdnaseq = 596 last codon in array is ag ctg (L) cag (Q) gag (E) cag (Q) cag (Q) ctc (L) aat (N) gaa (E) ctc (L) ctg (L) cag (Q) gag (E) cac (H) tca (S) atg (M) aac (N) original frameshift length = 12 frameshift length = 12 frameshifted sequence: cac (H) tca (S) atg (M) aac (N) tca (S) aga (R) cag (Q) aaa (K) tcg (S) agg (R) cct (P) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 12 538 Q 549 * 12 haematopoietic_and_lymphoid_tissue NOTCH1 1 c.6801_6802delTG p.F2267fs*87 length of cdnaseq = 7671 length of protseq = 2556 6801 6802 TG 2 2267 3 2268 1 tg Total no. of codons in cdna seq = 2557 ttt gag start t-t end g-a tt- -ag frameshift deletion length of cdnaseq after deletion = 7669 ter codon is tag at posn 2353 Protein length after deletion = 2352 Total no. of codons in del cdnaseq = 2557 last codon in array is a cgg (R) ctg (L) gcc (A) ttt (F) gag (E) act (T) ggc (G) cca (P) cct (P) cgg (R) ctg (L) gcc (A) tta (L) gac (D) tgg (W) ccc (P) original frameshift length = 87 frameshift length = 87 frameshifted sequence: tta (L) gac (D) tgg (W) ccc (P) acc (T) tcg (S) tct (S) ctc (L) cca (P) cct (P) gcc (A) tgt (C) ggc (G) ctc (L) tgg (W) cac (H) cag (Q) cac (H) cgt (R) cct (P) ggg (G) ctc (L) cag (Q) cag (Q) cgg (R) agg (R) ggc (G) cct (P) gaa (E) ttt (F) cac (H) tgt (C) ggg (G) cgg (R) gtc (V) cac (H) cag (Q) ttt (F) gaa (E) tgg (W) tca (S) atg (M) cga (R) gtg (V) gct (A) gtc (V) ccg (P) gct (A) gca (A) gag (E) cgg (R) cat (H) ggt (G) gcc (A) gaa (E) cca (P) ata (I) caa (Q) ccc (P) tct (S) gcg (A) ggg (G) gag (E) tgt (C) ggc (G) acc (T) agg (R) ccc (P) cct (P) gag (E) cac (H) aca (T) ggc (G) ccc (P) ctc (L) cct (P) gca (A) gca (A) tgg (W) cat (H) ggt (G) agg (R) ccc (P) gct (A) gca (A) cag (Q) tag (TER) wild type sequence in deletion region: ttt (F) gag (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 87 2267 F 2353 * 87 haematopoietic_and_lymphoid_tissue NOTCH1 1 c.6813_6823del11 p.R2273fs*78 length of cdnaseq = 7671 length of protseq = 2556 6813 6823 11 11 2271 3 2275 1 acctcgtctct Total no. of codons in cdna seq = 2557 cca tcc start c-a end t-c cc- -cc frameshift deletion length of cdnaseq after deletion = 7660 ter codon is tag at posn 2350 Protein length after deletion = 2349 Total no. of codons in del cdnaseq = 2554 last codon in array is a gag (E) act (T) ggc (G) cca (P) tcc (S) cac (H) ctg (L) cct (P) gtg (V) gag (E) act (T) ggc (G) ccc (P) cca (P) cct (P) gcc (A) original frameshift length = 80 frameshift length = 80 frameshifted sequence: ccc (P) cca (P) cct (P) gcc (A) tgt (C) ggc (G) ctc (L) tgg (W) cac (H) cag (Q) cac (H) cgt (R) cct (P) ggg (G) ctc (L) cag (Q) cag (Q) cgg (R) agg (R) ggc (G) cct (P) gaa (E) ttt (F) cac (H) tgt (C) ggg (G) cgg (R) gtc (V) cac (H) cag (Q) ttt (F) gaa (E) tgg (W) tca (S) atg (M) cga (R) gtg (V) gct (A) gtc (V) ccg (P) gct (A) gca (A) gag (E) cgg (R) cat (H) ggt (G) gcc (A) gaa (E) cca (P) ata (I) caa (Q) ccc (P) tct (S) gcg (A) ggg (G) gag (E) tgt (C) ggc (G) acc (T) agg (R) ccc (P) cct (P) gag (E) cac (H) aca (T) ggc (G) ccc (P) ctc (L) cct (P) gca (A) gca (A) tgg (W) cat (H) ggt (G) agg (R) ccc (P) gct (A) gca (A) cag (Q) tag (TER) wild type sequence in deletion region: cca (P) cct (P) cgt (R) ctc (L) tcc (S) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: cca (P) ccc (P) matching aa in delstart region of wt and deletion mutant: cct (P) cca (P) first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 78 2273 R 2350 * 78 haematopoietic_and_lymphoid_tissue NOTCH1 1 c.7169delA p.N2390fs*33 length of cdnaseq = 7671 length of protseq = 2556 7169 7169 A 1 2390 2 2390 2 a Total no. of codons in cdna seq = 2557 aac aac start a-a end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 7670 ter codon is tga at posn 2422 Protein length after deletion = 2421 Total no. of codons in del cdnaseq = 2557 last codon in array is aa cag (Q) cca (P) caa (Q) aac (N) aac (N) tta (L) cag (Q) atg (M) cag (Q) cag (Q) cca (P) caa (Q) act (T) tac (Y) aga (R) tgc (C) original frameshift length = 33 frameshift length = 33 frameshifted sequence: act (T) tac (Y) aga (R) tgc (C) agc (S) agc (S) aga (R) acc (T) tgc (C) agc (S) cag (Q) caa (Q) aca (T) tcc (S) agc (S) agc (S) agc (S) aaa (K) gcc (A) tgc (C) agc (S) cgc (R) cac (H) cac (H) cac (H) cac (H) cac (H) agc (S) cgc (R) acc (T) ttg (L) gcg (A) tga (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 33 2390 N 2422 * 33 haematopoietic_and_lymphoid_tissue NOTCH1 1 c.7329_7329delC p.D2443fs*35 length of cdnaseq = 7671 length of protseq = 2556 7329 7329 C 1 2443 3 2443 3 c Total no. of codons in cdna seq = 2557 gac gac start a-c post g end c-g ga- --- frameshift deletion length of cdnaseq after deletion = 7670 ter codon is tga at posn 2477 Protein length after deletion = 2476 Total no. of codons in del cdnaseq = 2557 last codon in array is aa agc (S) cag (Q) gca (A) gac (D) gac (D) gtg (V) cag (Q) cca (P) ctg (L) agc (S) cag (Q) gca (A) gag (E) tgc (C) agc (S) cac (H) original frameshift length = 35 frameshift length = 35 frameshifted sequence: gag (E) tgc (C) agc (S) cac (H) tgg (W) gcc (A) cca (P) gca (A) gcc (A) tgg (W) cgg (R) tgc (C) aca (T) cta (L) ttc (F) tgc (C) ccc (P) agg (R) aga (R) gcc (A) ccg (P) ccc (P) tgc (C) cca (P) cgt (R) cgc (R) tgc (C) cat (H) cct (P) cgc (R) tgg (W) tcc (S) cac (H) ccg (P) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 35 2443 D 2477 * 35 haematopoietic_and_lymphoid_tissue NOTCH1 1 c.7378_7378delC p.Q2460fs*18 length of cdnaseq = 7671 length of protseq = 2556 7378 7378 C 1 2460 1 2460 1 c Total no. of codons in cdna seq = 2557 cag cag prev c start c-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 7670 ter codon is tga at posn 2477 Protein length after deletion = 2476 Total no. of codons in del cdnaseq = 2557 last codon in array is aa att (I) ctg (L) ccc (P) cag (Q) cag (Q) gag (E) agc (S) ccc (P) gcc (A) att (I) ctg (L) ccc (P) agg (R) aga (R) gcc (A) ccg (P) original frameshift length = 18 frameshift length = 18 frameshifted sequence: agg (R) aga (R) gcc (A) ccg (P) ccc (P) tgc (C) cca (P) cgt (R) cgc (R) tgc (C) cat (H) cct (P) cgc (R) tgg (W) tcc (S) cac (H) ccg (P) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 18 2460 Q 2477 * 18 haematopoietic_and_lymphoid_tissue NOTCH1 1 c.7389delC p.P2463fs*15 length of cdnaseq = 7671 length of protseq = 2556 7389 7389 C 1 2463 3 2463 3 c Total no. of codons in cdna seq = 2557 ccc ccc start c-c post g end c-g cc- --- frameshift deletion length of cdnaseq after deletion = 7670 ter codon is tga at posn 2477 Protein length after deletion = 2476 Total no. of codons in del cdnaseq = 2557 last codon in array is aa cag (Q) gag (E) agc (S) ccc (P) ccc (P) gcc (A) ctg (L) ccc (P) acg (T) cag (Q) gag (E) agc (S) ccg (P) ccc (P) tgc (C) cca (P) original frameshift length = 15 frameshift length = 15 frameshifted sequence: ccg (P) ccc (P) tgc (C) cca (P) cgt (R) cgc (R) tgc (C) cat (H) cct (P) cgc (R) tgg (W) tcc (S) cac (H) ccg (P) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 14 2463 P 2477 * 15 A P 1 haematopoietic_and_lymphoid_tissue NOTCH1 c.7389delC p.P2463fs*15 haematopoietic_and_lymphoid_tissue NOTCH1 1 c.7424_7424delC p.P2475fs*3 length of cdnaseq = 7671 length of protseq = 2556 7424 7424 C 1 2475 2 2475 2 c Total no. of codons in cdna seq = 2557 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 7670 ter codon is tga at posn 2477 Protein length after deletion = 2476 Total no. of codons in del cdnaseq = 2557 last codon in array is aa tcg (S) ctg (L) gtc (V) cca (P) cca (P) ccc (P) gtg (V) acc (T) gca (A) tcg (S) ctg (L) gtc (V) cac (H) ccg (P) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cac (H) ccg (P) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 3 2475 P 2477 * 3 haematopoietic_and_lymphoid_tissue NOTCH1 1 c.7428delC p.P2476fs*2 length of cdnaseq = 7671 length of protseq = 2556 7428 7428 C 1 2476 3 2476 3 c Total no. of codons in cdna seq = 2557 ccc ccc start c-c post g end c-g cc- --- frameshift deletion length of cdnaseq after deletion = 7670 ter codon is tga at posn 2477 Protein length after deletion = 2476 Total no. of codons in del cdnaseq = 2557 last codon in array is aa ctg (L) gtc (V) cca (P) ccc (P) ccc (P) gtg (V) acc (T) gca (A) gcc (A) ctg (L) gtc (V) cca (P) ccg (P) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ccg (P) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 1 2476 P 2477 * 2 V P 1 haematopoietic_and_lymphoid_tissue NOTCH1 c.7428delC p.P2476fs*2 haematopoietic_and_lymphoid_tissue NOTCH1 1 c.7534_7544del11 p.T2512fs*1 length of cdnaseq = 7671 length of protseq = 2556 7534 7544 11 11 2512 1 2515 2 accccgtcccc Total no. of codons in cdna seq = 2557 acc cct prev c start c-a end c-t --- --t frameshift deletion length of cdnaseq after deletion = 7660 ter codon is tga at posn 2512 Protein length after deletion = 2511 Total no. of codons in del cdnaseq = 2554 last codon in array is a ccc (P) ttc (F) ctc (L) acc (T) cct (P) gag (E) tcc (S) cct (P) gac (D) ccc (P) ttc (F) ctc (L) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: acc (T) ccg (P) tcc (S) cct (P) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 1 2512 T 2512 * 1 haematopoietic_and_lymphoid_tissue NOTCH1 1 c.7548_7557del10 p.E2516fs*71 length of cdnaseq = 7671 length of protseq = 2556 7548 7557 10 10 2516 3 2519 3 gtcccctgac Total no. of codons in cdna seq = 2557 gag gac start a-g post c end c-c ga- --- frameshift deletion length of cdnaseq after deletion = 7661 Total no. of codons in del cdnaseq = 2554 last codon in array is aa No ter codons in deleted sequence Protein length after deletion = 2553 ccg (P) tcc (S) cct (P) gag (E) gac (D) cag (Q) tgg (W) tcc (S) agc (S) ccg (P) tcc (S) cct (P) gac (D) agt (S) ggt (G) cca (P) original frameshift length = 39 frameshift length = 38 frameshifted sequence: gac (D) agt (S) ggt (G) cca (P) gct (A) cgt (R) ccc (P) cgc (R) att (I) cca (P) acg (T) tct (S) ccg (P) act (T) ggt (G) ccg (P) agg (R) gcg (A) tct (S) cca (P) gcc (A) ctc (L) cca (P) cca (P) gca (A) tgc (C) agt (S) ccc (P) aga (R) tcg (S) ccc (P) gca (A) ttc (F) cgg (R) agg (R) cct (P) tca (S) agt (S) aa (end) wild type sequence in deletion region: gag (E) tcc (S) cct (P) gac (D) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 38 2516 E 2586 * 71 oesophagus NOTCH1 1 c.6169_6170delAT p.M2057fs*211 length of cdnaseq = 7671 length of protseq = 2556 6169 6170 AT 2 2057 1 2057 2 at Total no. of codons in cdna seq = 2557 atg atg prev t start t-a end t-g --- --g frameshift deletion length of cdnaseq after deletion = 7669 ter codon is tga at posn 2267 Protein length after deletion = 2266 Total no. of codons in del cdnaseq = 2557 last codon in array is a aac (N) aaa (K) gat (D) atg (M) atg (M) cag (Q) aac (N) aac (N) agg (R) aac (N) aaa (K) gat (D) gca (A) gaa (E) caa (Q) cag (Q) original frameshift length = 211 frameshift length = 211 frameshifted sequence: gca (A) gaa (E) caa (Q) cag (Q) gga (G) gga (G) gac (D) acc (T) cct (P) gtt (V) tct (S) ggc (G) cgc (R) ccg (P) gga (G) ggg (G) cag (Q) cta (L) cga (R) gac (D) cgc (R) caa (Q) ggt (G) gct (A) gct (A) gga (G) cca (P) ctt (L) tgc (C) caa (Q) ccg (P) gga (G) cat (H) cac (H) gga (G) tca (S) tat (Y) gga (G) ccg (P) cct (P) gcc (A) gcg (A) cga (R) cat (H) cgc (R) aca (T) gga (G) gcg (A) cat (H) gca (A) tca (S) cga (R) cat (H) cgt (R) gag (E) gct (A) gct (A) gga (G) cga (R) gta (V) caa (Q) cct (P) ggt (G) gcg (A) cag (Q) ccc (P) gca (A) gct (A) gca (A) cgg (R) agc (S) ccc (P) gct (A) ggg (G) ggg (G) cac (H) gcc (A) cac (H) cct (P) gtc (V) gcc (A) ccc (P) gct (A) ctg (L) ctc (L) gcc (A) caa (Q) cgg (R) cta (L) cct (P) ggg (G) cag (Q) cct (P) caa (Q) gcc (A) cgg (R) cgt (R) gca (A) ggg (G) caa (Q) gaa (E) ggt (G) ccg (P) caa (Q) gcc (A) cag (Q) cag (Q) caa (Q) agg (R) cct (P) ggc (G) ctg (L) tgg (W) aag (K) caa (Q) gga (G) ggc (G) caa (Q) gga (G) cct (P) caa (Q) ggc (G) acg (T) gag (E) gaa (E) gaa (E) gtc (V) cca (P) gga (G) cgg (R) caa (Q) ggg (G) ctg (L) cct (P) gct (A) gga (G) cag (Q) ctc (L) cgg (R) cat (H) gct (A) ctc (L) gcc (A) cgt (R) gga (G) ctc (L) cct (P) gga (G) gtc (V) acc (T) cca (P) tgg (W) cta (L) cct (P) gtc (V) aga (R) cgt (R) ggc (G) ctc (L) gcc (A) gcc (A) act (T) gct (A) gcc (A) ctc (L) ccc (P) gtt (V) cca (P) gca (A) gtc (V) tcc (S) gtc (V) cgt (R) gcc (A) cct (P) caa (Q) cca (P) cct (P) gcc (A) tgg (W) gat (D) gcc (A) cga (R) cac (H) cca (P) cct (P) ggg (G) cat (H) cgg (R) gca (A) cct (P) gaa (E) cgt (R) ggc (G) ggc (G) caa (Q) gcc (A) cga (R) gat (D) ggc (G) ggc (G) gct (A) ggg (G) tgg (W) ggg (G) cgg (R) ccg (P) gct (A) ggc (G) ctt (L) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 211 2057 M 2267 * 211 haematopoietic_and_lymphoid_tissue NOTCH1 24 c.7544_7545delCT p.P2515fs*4 length of cdnaseq = 7671 length of protseq = 2556 7544 7545 CT 2 2515 2 2515 3 ct Total no. of codons in cdna seq = 2557 cct cct start c-c post g end t-g c-- --- frameshift deletion length of cdnaseq after deletion = 7669 ter codon is tga at posn 2518 Protein length after deletion = 2517 Total no. of codons in del cdnaseq = 2557 last codon in array is a acc (T) ccg (P) tcc (S) cct (P) cct (P) gag (E) tcc (S) cct (P) gac (D) acc (T) ccg (P) tcc (S) cga (R) gtc (V) ccc (P) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: cga (R) gtc (V) ccc (P) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 4 2515 P 2518 * 4 haematopoietic_and_lymphoid_tissue NOTCH1 2 c.7390_7390delG p.A2464fs*14 length of cdnaseq = 7671 length of protseq = 2556 7390 7390 G 1 2464 1 2464 1 g Total no. of codons in cdna seq = 2557 gcc gcc prev c start c-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 7670 ter codon is tga at posn 2477 Protein length after deletion = 2476 Total no. of codons in del cdnaseq = 2557 last codon in array is aa gag (E) agc (S) ccc (P) gcc (A) gcc (A) ctg (L) ccc (P) acg (T) tcg (S) gag (E) agc (S) ccc (P) ccc (P) tgc (C) cca (P) cgt (R) original frameshift length = 14 frameshift length = 14 frameshifted sequence: ccc (P) tgc (C) cca (P) cgt (R) cgc (R) tgc (C) cat (H) cct (P) cgc (R) tgg (W) tcc (S) cac (H) ccg (P) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 14 2464 A 2477 * 14 large_intestine NOTCH1 2 c.7023delC p.S2342fs*7 length of cdnaseq = 7671 length of protseq = 2556 7023 7023 C 1 2341 3 2341 3 c Total no. of codons in cdna seq = 2557 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 7670 ter codon is tag at posn 2348 Protein length after deletion = 2347 Total no. of codons in del cdnaseq = 2557 last codon in array is aa aca (T) cag (Q) gcc (A) ccc (P) ccc (P) tcc (S) ctg (L) cag (Q) cat (H) aca (T) cag (Q) gcc (A) cct (P) ccc (P) tgc (C) agc (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cct (P) ccc (P) tgc (C) agc (S) atg (M) gca (A) tgg (W) tag (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 7 2342 S 2348 * 7 central_nervous_system PDGFRA 1 c.3142_3143delAG p.S1048fs*3 length of cdnaseq = 3270 length of protseq = 1089 3142 3143 AG 2 1048 1 1048 2 ag Total no. of codons in cdna seq = 1090 agt agt prev g start g-a end g-t --- --t frameshift deletion length of cdnaseq after deletion = 3268 ter codon is tga at posn 1050 Protein length after deletion = 1049 Total no. of codons in del cdnaseq = 1090 last codon in array is a tct (S) gaa (E) gag (E) agt (S) agt (S) gcc (A) att (I) gag (E) acg (T) tct (S) gaa (E) gag (E) tgc (C) cat (H) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tgc (C) cat (H) tga (TER) wild type sequence in deletion region: agt (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 3 1048 S 1050 * 3 autonomic_ganglia PHOX2B 1 c.634_671del38 p.G216fs*88 length of cdnaseq = 945 length of protseq = 314 634 671 38 38 212 1 224 2 ggaggcggcggcggcgggcccagcccggctggagctcc Total no. of codons in cdna seq = 315 gga ccg prev t start t-g end c-g --- --g frameshift deletion length of cdnaseq after deletion = 907 Total no. of codons in del cdnaseq = 303 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 302 ggg (G) gcg (A) aat (N) gga (G) ccg (P) ggg (G) gcg (A) gcg (A) ggg (G) ggg (G) gcg (A) aat (N) ggg (G) ggc (G) ggc (G) ggg (G) original frameshift length = 92 frameshift length = 91 frameshifted sequence: ggg (G) ggc (G) ggc (G) ggg (G) gcc (A) cgg (R) ggg (G) ccc (P) ggg (G) agg (R) cga (R) acc (T) cgg (R) caa (Q) ggg (G) cgg (R) cgc (R) agc (S) agc (S) agc (S) ggc (G) ggc (G) ggc (G) cgc (R) ggc (G) agc (S) ggc (G) ggc (G) ggc (G) ggc (G) agc (S) ggc (G) agc (S) ggc (G) ggc (G) agc (S) tgg (W) agg (R) cct (P) ggc (G) tgc (C) ggc (G) tgg (W) ggg (G) ccc (P) tgg (W) aca (T) agg (R) ctg (L) ggc (G) tcc (S) cgg (R) ccc (P) cgg (R) ccc (P) cat (H) cac (H) ctc (L) cat (H) ccc (P) gga (G) ttc (F) gct (A) tgg (W) ggg (G) tcc (S) ctt (L) cgc (R) cag (Q) cgt (R) cct (P) atc (I) ttc (F) gct (A) cca (P) aag (K) acc (T) caa (Q) cgg (R) tgc (C) caa (Q) agc (S) cgc (R) ctt (L) agt (S) gaa (E) gag (E) cag (Q) tat (Y) gtt (V) ctg (L) a (end) wild type sequence in deletion region: gga (G) ggc (G) ggc (G) ggc (G) ggc (G) ggg (G) ccc (P) agc (S) ccg (P) gct (A) gga (G) gct (A) ccg (P) wt frameshift deln region length = 13 matching aa in delstart region of wt and deletion mutant: gga (G) ggg (G) matching aa in delstart region of wt and deletion mutant: ggc (G) ggc (G) matching aa in delstart region of wt and deletion mutant: ggc (G) ggc (G) matching aa in delstart region of wt and deletion mutant: ggc (G) ggg (G) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 87 216 G 303 * 88 autonomic_ganglia PHOX2B 1 c.721_755del35 p.A241fs*64 length of cdnaseq = 945 length of protseq = 314 721 755 35 35 241 1 252 2 gcagcagcagcggcggcggccgcggcagcggcggc Total no. of codons in cdna seq = 315 gca gcg prev c start c-g end c-g --- --g frameshift deletion length of cdnaseq after deletion = 910 Total no. of codons in del cdnaseq = 304 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 303 aag (K) ggc (G) ggc (G) gca (A) gcg (A) gcg (A) gca (A) gcg (A) gca (A) aag (K) ggc (G) ggc (G) ggc (G) ggc (G) agc (S) ggc (G) original frameshift length = 64 frameshift length = 63 frameshifted sequence: ggc (G) ggc (G) agc (S) ggc (G) agc (S) ggc (G) ggc (G) agc (S) tgg (W) agg (R) cct (P) ggc (G) tgc (C) ggc (G) tgg (W) ggg (G) ccc (P) tgg (W) aca (T) agg (R) ctg (L) ggc (G) tcc (S) cgg (R) ccc (P) cgg (R) ccc (P) cat (H) cac (H) ctc (L) cat (H) ccc (P) gga (G) ttc (F) gct (A) tgg (W) ggg (G) tcc (S) ctt (L) cgc (R) cag (Q) cgt (R) cct (P) atc (I) ttc (F) gct (A) cca (P) aag (K) acc (T) caa (Q) cgg (R) tgc (C) caa (Q) agc (S) cgc (R) ctt (L) agt (S) gaa (E) gag (E) cag (Q) tat (Y) gtt (V) ctg (L) a (end) wild type sequence in deletion region: gca (A) gca (A) gca (A) gcg (A) gcg (A) gcg (A) gcc (A) gcg (A) gca (A) gcg (A) gcg (A) gcg (A) wt frameshift deln region length = 12 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 63 241 A 304 * 64 autonomic_ganglia PHOX2B 3 c.721_740del20 p.A241fs*69 length of cdnaseq = 945 length of protseq = 314 721 740 20 20 241 1 247 2 gcagcagcagcggcggcggc Total no. of codons in cdna seq = 315 gca gcc prev c start c-g end c-c --- --c frameshift deletion length of cdnaseq after deletion = 925 Total no. of codons in del cdnaseq = 309 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 308 aag (K) ggc (G) ggc (G) gca (A) gcc (A) gcg (A) gca (A) gcg (A) gcg (A) aag (K) ggc (G) ggc (G) cgc (R) ggc (G) agc (S) ggc (G) original frameshift length = 69 frameshift length = 68 frameshifted sequence: cgc (R) ggc (G) agc (S) ggc (G) ggc (G) ggc (G) ggc (G) agc (S) ggc (G) agc (S) ggc (G) ggc (G) agc (S) tgg (W) agg (R) cct (P) ggc (G) tgc (C) ggc (G) tgg (W) ggg (G) ccc (P) tgg (W) aca (T) agg (R) ctg (L) ggc (G) tcc (S) cgg (R) ccc (P) cgg (R) ccc (P) cat (H) cac (H) ctc (L) cat (H) ccc (P) gga (G) ttc (F) gct (A) tgg (W) ggg (G) tcc (S) ctt (L) cgc (R) cag (Q) cgt (R) cct (P) atc (I) ttc (F) gct (A) cca (P) aag (K) acc (T) caa (Q) cgg (R) tgc (C) caa (Q) agc (S) cgc (R) ctt (L) agt (S) gaa (E) gag (E) cag (Q) tat (Y) gtt (V) ctg (L) a (end) wild type sequence in deletion region: gca (A) gca (A) gca (A) gcg (A) gcg (A) gcg (A) gcc (A) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 68 241 A 309 * 69 central_nervous_system PIK3R1 1 c.1721_1722delGA p.R574fs*27 length of cdnaseq = 2175 length of protseq = 724 1721 1722 GA 2 574 2 574 3 ga Total no. of codons in cdna seq = 725 aga aga start a-g post a end a-a a-- --- frameshift deletion length of cdnaseq after deletion = 2173 ter codon is tga at posn 600 Protein length after deletion = 599 Total no. of codons in del cdnaseq = 725 last codon in array is a atc (I) cag (Q) ctg (L) aga (R) aga (R) aag (K) acg (T) aga (R) gac (D) atc (I) cag (Q) ctg (L) aaa (K) gac (D) gag (E) aga (R) original frameshift length = 27 frameshift length = 27 frameshifted sequence: aaa (K) gac (D) gag (E) aga (R) cca (P) ata (I) ctt (L) gat (D) gtg (V) gtt (V) gac (D) tca (S) aaa (K) agg (R) tgt (C) tcg (S) gca (A) aaa (K) gaa (E) gtt (V) gaa (E) cga (R) gtg (V) gtt (V) ggg (G) caa (Q) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 27 574 R 600 * 27 kidney PMS1 1 c.1982delA p.N661fs*8 length of cdnaseq = 2799 length of protseq = 932 1982 1982 A 1 661 2 661 2 a Total no. of codons in cdna seq = 933 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 2798 ter codon is taa at posn 668 Protein length after deletion = 667 Total no. of codons in del cdnaseq = 933 last codon in array is ga agc (S) gca (A) tgg (W) aat (N) aat (N) ttg (L) gcc (A) cag (Q) aag (K) agc (S) gca (A) tgg (W) att (I) tgg (W) ccc (P) aga (R) original frameshift length = 8 frameshift length = 8 frameshifted sequence: att (I) tgg (W) ccc (P) aga (R) agc (S) aca (T) agt (S) taa (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 8 661 N 668 * 8 soft_tissue PRKAR1A 1 c.687_687delC p.D229fs*12 length of cdnaseq = 1146 length of protseq = 381 687 687 C 1 229 3 229 3 c Total no. of codons in cdna seq = 382 gac gac start a-c post a end c-a ga- --- frameshift deletion length of cdnaseq after deletion = 1145 ter codon is tga at posn 240 Protein length after deletion = 239 Total no. of codons in del cdnaseq = 382 last codon in array is ga atc (I) gac (D) cga (R) gac (D) gac (D) agc (S) tat (Y) aga (R) aga (R) atc (I) gac (D) cga (R) gaa (E) gct (A) ata (I) gaa (E) original frameshift length = 12 frameshift length = 12 frameshifted sequence: gaa (E) gct (A) ata (I) gaa (E) gaa (E) tcc (S) tca (S) tgg (W) gaa (E) gca (A) cac (H) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 12 229 D 240 * 12 bone PTCH1 1 c.1361_1364delGTCT p.C454fs*1 length of cdnaseq = 4344 length of protseq = 1447 1361 1364 GTCT 4 454 2 455 2 gtct Total no. of codons in cdna seq = 1448 tgt cta start t-g end t-a t-- --a frameshift deletion length of cdnaseq after deletion = 4340 ter codon is taa at posn 454 Protein length after deletion = 453 Total no. of codons in del cdnaseq = 1447 last codon in array is ga gcc (A) tat (Y) gcc (A) tgt (C) cta (L) acc (T) atg (M) ctg (L) cgc (R) gcc (A) tat (Y) gcc (A) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tgt (C) cta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 1 454 C 454 * 1 bone PTCH1 1 c.1558_1574del17 p.H520fs*4 length of cdnaseq = 4344 length of protseq = 1447 1558 1574 17 17 520 1 525 2 cacgccttcagtgaaac Total no. of codons in cdna seq = 1448 cac aca prev c start c-c end c-a --- --a frameshift deletion length of cdnaseq after deletion = 4327 ter codon is taa at posn 523 Protein length after deletion = 522 Total no. of codons in del cdnaseq = 1443 last codon in array is a ctt (L) ctg (L) gcc (A) cac (H) aca (T) gga (G) cag (Q) aat (N) aaa (K) ctt (L) ctg (L) gcc (A) agg (R) aca (T) gaa (E) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: agg (R) aca (T) gaa (E) taa (TER) wild type sequence in deletion region: cac (H) gcc (A) ttc (F) agt (S) gaa (E) aca (T) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 4 520 H 523 * 4 bone PTCH1 1 c.2635_2635delG p.D879fs*24 length of cdnaseq = 4344 length of protseq = 1447 2635 2635 G 1 879 1 879 1 g Total no. of codons in cdna seq = 1448 gat gat prev c start c-g end g-a --- -at frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tga at posn 902 Protein length after deletion = 901 Total no. of codons in del cdnaseq = 1448 last codon in array is ga gga (G) tca (S) gac (D) gat (D) gat (D) gga (G) gtc (V) ctt (L) gcc (A) gga (G) tca (S) gac (D) atg (M) gag (E) tcc (S) ttg (L) original frameshift length = 24 frameshift length = 24 frameshifted sequence: atg (M) gag (E) tcc (S) ttg (L) cct (P) aca (T) aac (N) tcc (S) tgg (W) tgc (C) aaa (K) ccg (P) gca (A) gcc (A) gcg (A) ata (I) agc (S) cca (P) tcg (S) aca (T) tca (S) gcc (A) agt (S) tga (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 24 879 D 902 * 24 bone PTCH1 1 c.3641delC p.T1214fs*41 length of cdnaseq = 4344 length of protseq = 1447 3641 3641 C 1 1214 2 1214 2 c Total no. of codons in cdna seq = 1448 acg acg start a-c end c-g a-- --g frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tga at posn 1254 Protein length after deletion = 1253 Total no. of codons in del cdnaseq = 1448 last codon in array is ga ccc (P) ggc (G) cac (H) acg (T) acg (T) cac (H) agc (S) ggg (G) tct (S) ccc (P) ggc (G) cac (H) agc (S) aca (T) gcg (A) ggt (G) original frameshift length = 41 frameshift length = 41 frameshifted sequence: agc (S) aca (T) gcg (A) ggt (G) ctg (L) att (I) cct (P) ccg (P) act (T) cgg (R) agt (S) ata (I) gtt (V) ccc (P) aga (R) cga (R) cag (Q) tgt (C) cag (Q) gcc (A) tca (S) gcg (A) agg (R) agc (S) ttc (F) ggc (G) act (T) acg (T) agg (R) ccc (P) agc (S) agg (R) gcg (A) cgg (R) gag (E) gcc (A) ctg (L) ccc (P) acc (T) aag (K) tga (TER) wild type sequence in deletion region: acg (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 41 1214 T 1254 * 41 bone PTCH1 1 c.518_522delAAGCG p.E173fs*77 length of cdnaseq = 4344 length of protseq = 1447 518 522 AAGCG 5 173 2 174 3 aagcg Total no. of codons in cdna seq = 1448 gaa gcg start g-a post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 4339 ter codon is taa at posn 249 Protein length after deletion = 248 Total no. of codons in del cdnaseq = 1447 last codon in array is a ctg (L) acc (T) aca (T) gaa (E) gcg (A) ctc (L) cta (L) caa (Q) cac (H) ctg (L) acc (T) aca (T) gct (A) cct (P) aca (T) aca (T) original frameshift length = 77 frameshift length = 77 frameshifted sequence: gct (A) cct (P) aca (T) aca (T) cct (P) gga (G) ctc (L) ggc (G) act (T) cca (P) ggc (G) cag (Q) ccg (P) tgt (C) cca (P) tgt (C) ata (I) cat (H) gta (V) caa (Q) cag (Q) gca (A) gtg (V) gaa (E) att (I) gga (G) aca (T) ttt (F) gtg (V) tta (L) caa (Q) atc (I) agg (R) aga (R) gct (A) tat (Y) cac (H) aga (R) aac (N) agg (R) tta (L) cat (H) gga (G) tca (S) gat (D) aat (N) aga (R) ata (I) tct (S) tta (L) ccc (P) ttg (L) ttt (F) gat (D) tat (Y) tac (Y) acc (T) ttt (F) gga (G) ctg (L) ctt (L) ctg (L) gga (G) agg (R) ggc (G) gaa (E) att (I) aca (T) gtc (V) tgg (W) gac (D) agc (S) ata (I) cct (P) cct (P) agg (R) taa (TER) wild type sequence in deletion region: gaa (E) gcg (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 77 173 E 249 * 77 bone PTCH1 1 c.983_983delA p.H328fs*14 length of cdnaseq = 4344 length of protseq = 1447 983 983 A 1 328 2 328 2 a Total no. of codons in cdna seq = 1448 cat cat start c-a end a-t c-- --t frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tga at posn 341 Protein length after deletion = 340 Total no. of codons in del cdnaseq = 1448 last codon in array is ga ggt (G) gga (G) tgt (C) cat (H) cat (H) ggc (G) tta (L) tcc (S) aga (R) ggt (G) gga (G) tgt (C) ctg (L) gct (A) tat (Y) cca (P) original frameshift length = 14 frameshift length = 14 frameshifted sequence: ctg (L) gct (A) tat (Y) cca (P) gaa (E) agt (S) ata (I) tgc (C) act (T) ggc (G) agg (R) agg (R) agt (S) tga (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 14 328 H 341 * 14 central_nervous_system PTCH1 1 c.1350_1350delC p.A451fs*5 length of cdnaseq = 4344 length of protseq = 1447 1350 1350 C 1 450 3 450 3 c Total no. of codons in cdna seq = 1448 ctc ctc start t-c post g end c-g ct- --- frameshift deletion length of cdnaseq after deletion = 4343 ter codon is taa at posn 455 Protein length after deletion = 454 Total no. of codons in del cdnaseq = 1448 last codon in array is ga tta (L) ctc (L) atg (M) ctc (L) ctc (L) gcc (A) tat (Y) gcc (A) tgt (C) tta (L) ctc (L) atg (M) ctg (L) cct (P) atg (M) cct (P) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ctg (L) cct (P) atg (M) cct (P) gtc (V) taa (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctc (L) ctg (L) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 5 451 A 455 * 5 central_nervous_system PTCH1 1 c.1588_1589delAG p.R530fs*4 length of cdnaseq = 4344 length of protseq = 1447 1588 1589 AG 2 530 1 530 2 ag Total no. of codons in cdna seq = 1448 aga aga prev a start a-a end g-a --- --a frameshift deletion length of cdnaseq after deletion = 4342 ter codon is tga at posn 533 Protein length after deletion = 532 Total no. of codons in del cdnaseq = 1448 last codon in array is a cag (Q) aat (N) aaa (K) aga (R) aga (R) atc (I) cct (P) ttt (F) gag (E) cag (Q) aat (N) aaa (K) aat (N) ccc (P) ttt (F) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aat (N) ccc (P) ttt (F) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 4 530 R 533 * 4 central_nervous_system PTCH1 1 c.2888_3167del280 p.I963fs*2 length of cdnaseq = 4344 length of protseq = 1447 2888 3167 280 280 963 2 1056 2 tcccggcagcagagcccatcgagtatgcccagttccctttctacctcaacggcttgcgggacacctcagactttgtggaggcaattgaaaaagtaaggaccatctgcagcaactatacgagcctggggctgtccagttaccccaacggctaccccttcctcttctgggagcagtacatcggcctccgccactggctgctgctgttcatcagcgtggtgttggcctgcacattcctcgtgtgcgctgtcttccttctgaacccctggacggccgggatcat Total no. of codons in cdna seq = 1448 atc att start a-t end t-t a-- --t frameshift deletion length of cdnaseq after deletion = 4064 ter codon is tga at posn 964 Protein length after deletion = 963 Total no. of codons in del cdnaseq = 1355 last codon in array is ga agg (R) ctg (L) aga (R) atc (I) att (I) gtg (V) atg (M) gtc (V) ctg (L) agg (R) ctg (L) aga (R) atg (M) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: atg (M) tga (TER) wild type sequence in deletion region: atc (I) ccg (P) gca (A) gca (A) gag (E) ccc (P) atc (I) gag (E) tat (Y) gcc (A) cag (Q) ttc (F) cct (P) ttc (F) tac (Y) ctc (L) aac (N) ggc (G) ttg (L) cgg (R) gac (D) acc (T) tca (S) gac (D) ttt (F) gtg (V) gag (E) gca (A) att (I) gaa (E) aaa (K) gta (V) agg (R) acc (T) atc (I) tgc (C) agc (S) aac (N) tat (Y) acg (T) agc (S) ctg (L) ggg (G) ctg (L) tcc (S) agt (S) tac (Y) ccc (P) aac (N) ggc (G) tac (Y) ccc (P) ttc (F) ctc (L) ttc (F) tgg (W) gag (E) cag (Q) tac (Y) atc (I) ggc (G) ctc (L) cgc (R) cac (H) tgg (W) ctg (L) ctg (L) ctg (L) ttc (F) atc (I) agc (S) gtg (V) gtg (V) ttg (L) gcc (A) tgc (C) aca (T) ttc (F) ctc (L) gtg (V) tgc (C) gct (A) gtc (V) ttc (F) ctt (L) ctg (L) aac (N) ccc (P) tgg (W) acg (T) gcc (A) ggg (G) atc (I) att (I) wt frameshift deln region length = 94 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 2 963 I 964 * 2 central_nervous_system PTCH1 1 c.2979_2979delA p.V994fs*1 length of cdnaseq = 4344 length of protseq = 1447 2979 2979 A 1 993 3 993 3 a Total no. of codons in cdna seq = 1448 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 4343 ter codon is taa at posn 994 Protein length after deletion = 993 Total no. of codons in del cdnaseq = 1448 last codon in array is ga gca (A) att (I) gaa (E) aaa (K) aaa (K) gta (V) agg (R) acc (T) atc (I) gca (A) att (I) gaa (E) aag (K) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aag (K) taa (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 994 V 994 * 1 central_nervous_system PTCH1 1 c.3470_3471delCG p.A1157fs*26 length of cdnaseq = 4344 length of protseq = 1447 3470 3471 CG 2 1157 2 1157 3 cg Total no. of codons in cdna seq = 1448 gcg gcg start g-c post a end g-a g-- --- frameshift deletion length of cdnaseq after deletion = 4342 ter codon is tga at posn 1182 Protein length after deletion = 1181 Total no. of codons in del cdnaseq = 1448 last codon in array is a gct (A) gtg (V) ctg (L) gcg (A) gcg (A) atc (I) ctc (L) acc (T) atc (I) gct (A) gtg (V) ctg (L) gat (D) cct (P) cac (H) cat (H) original frameshift length = 26 frameshift length = 26 frameshifted sequence: gat (D) cct (P) cac (H) cat (H) cct (P) cgg (R) cgt (R) tct (S) caa (Q) tgg (W) gct (A) ggt (G) ttt (F) gct (A) tcc (S) cgt (R) gct (A) ttt (F) gtc (V) ttt (F) ctt (L) tgg (W) acc (T) ata (I) tcc (S) tga (TER) wild type sequence in deletion region: gcg (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 26 1157 A 1182 * 26 central_nervous_system PTCH1 1 c.726_726delG p.Q242fs*8 length of cdnaseq = 4344 length of protseq = 1447 726 726 G 1 242 3 242 3 g Total no. of codons in cdna seq = 1448 cag cag start a-g post t end g-t ca- --- frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tag at posn 249 Protein length after deletion = 248 Total no. of codons in del cdnaseq = 1448 last codon in array is ga gcg (A) aaa (K) tta (L) cag (Q) cag (Q) tct (S) ggg (G) aca (T) gca (A) gcg (A) aaa (K) tta (L) cat (H) ctg (L) gga (G) cag (Q) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cat (H) ctg (L) gga (G) cag (Q) cat (H) acc (T) tcc (S) tag (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 8 242 Q 249 * 8 skin PTCH1 1 c.1047delC p.N349fs*18 length of cdnaseq = 4344 length of protseq = 1447 1047 1047 C 1 349 3 349 3 c Total no. of codons in cdna seq = 1448 aac aac start a-c post a end c-a aa- --- frameshift deletion length of cdnaseq after deletion = 4343 ter codon is taa at posn 366 Protein length after deletion = 365 Total no. of codons in del cdnaseq = 1448 last codon in array is ga aca (T) gtc (V) aag (K) aac (N) aac (N) agc (S) act (T) gga (G) aaa (K) aca (T) gtc (V) aag (K) aaa (K) gca (A) ctg (L) gaa (E) original frameshift length = 18 frameshift length = 18 frameshifted sequence: aaa (K) gca (A) ctg (L) gaa (E) aac (N) tcg (S) tca (S) gcg (A) ccc (P) atg (M) ccc (P) tgc (C) aga (R) cca (P) tgt (C) tcc (S) agt (S) taa (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 18 349 N 366 * 18 skin PTCH1 1 c.1108_1111delAAGC p.K370fs*61 length of cdnaseq = 4344 length of protseq = 1447 1108 1111 AAGC 4 370 1 371 1 aagc Total no. of codons in cdna seq = 1448 aag caa prev c start c-a end c-a --- -aa frameshift deletion length of cdnaseq after deletion = 4340 ter codon is tga at posn 430 Protein length after deletion = 429 Total no. of codons in del cdnaseq = 1447 last codon in array is ga atg (M) act (T) ccc (P) aag (K) caa (Q) atg (M) tac (Y) gag (E) cac (H) atg (M) act (T) ccc (P) aaa (K) tgt (C) acg (T) agc (S) original frameshift length = 61 frameshift length = 61 frameshifted sequence: aaa (K) tgt (C) acg (T) agc (S) act (T) tca (S) agg (R) ggt (G) acg (T) agt (S) atg (M) tct (S) cac (H) aca (T) tca (S) act (T) gga (G) acg (T) agg (R) aca (T) aag (K) cgg (R) cag (Q) cca (P) tcc (S) tgg (W) agg (R) cct (P) ggc (G) aga (R) gga (G) cat (H) atg (M) tgg (W) agg (R) tgg (W) ttc (F) atc (I) aga (R) gtg (V) tcg (S) cac (H) aga (R) act (T) cca (P) ctc (L) aaa (K) agg (R) tgc (C) ttt (F) cct (P) tca (S) cca (P) cca (P) cga (R) ccc (P) tgg (W) acg (T) aca (T) tcc (S) tga (TER) wild type sequence in deletion region: aag (K) caa (Q) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aag (K) aaa (K) first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 60 370 K 430 * 61 Q K 1 skin PTCH1 c.1108_1111delAAGC p.K370fs*61 skin PTCH1 1 c.1324_1324delG p.V442fs*14 length of cdnaseq = 4344 length of protseq = 1447 1324 1324 G 1 442 1 442 1 g Total no. of codons in cdna seq = 1448 gtg gtg prev c start c-g end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 4343 ter codon is taa at posn 455 Protein length after deletion = 454 Total no. of codons in del cdnaseq = 1448 last codon in array is ga gtc (V) atc (I) cgc (R) gtg (V) gtg (V) gcc (A) agc (S) ggc (G) tac (Y) gtc (V) atc (I) cgc (R) tgg (W) cca (P) gcg (A) gct (A) original frameshift length = 14 frameshift length = 14 frameshifted sequence: tgg (W) cca (P) gcg (A) gct (A) act (T) tac (Y) tca (S) tgc (C) tcg (S) cct (P) atg (M) cct (P) gtc (V) taa (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 14 442 V 455 * 14 skin PTCH1 1 c.1481_1485delCCTTT p.S494fs*1 length of cdnaseq = 4344 length of protseq = 1447 1481 1485 CCTTT 5 494 2 495 3 ccttt Total no. of codons in cdna seq = 1448 tcc ttt start t-c post a end t-a t-- --- frameshift deletion length of cdnaseq after deletion = 4339 ter codon is taa at posn 494 Protein length after deletion = 493 Total no. of codons in del cdnaseq = 1447 last codon in array is a atc (I) gga (G) att (I) tcc (S) ttt (F) aac (N) gct (A) gca (A) aca (T) atc (I) gga (G) att (I) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tcc (S) ttt (F) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 1 494 S 494 * 1 skin PTCH1 1 c.1673_1695del23 p.F559fs*60 length of cdnaseq = 4344 length of protseq = 1447 1673 1695 23 23 558 2 565 3 ccttcttcatggccgcgttaatc Total no. of codons in cdna seq = 1448 gcc atc start g-c post c end c-c g-- --- frameshift deletion length of cdnaseq after deletion = 4321 ter codon is tga at posn 618 Protein length after deletion = 617 Total no. of codons in del cdnaseq = 1441 last codon in array is a aat (N) gtc (V) aca (T) gcc (A) atc (I) cca (P) att (I) ccc (P) gct (A) aat (N) gtc (V) aca (T) gcc (A) aat (N) tcc (S) cgc (R) original frameshift length = 61 frameshift length = 61 frameshifted sequence: gcc (A) aat (N) tcc (S) cgc (R) tct (S) gcg (A) ggc (G) gtt (V) ctc (L) cct (P) cca (P) ggc (G) agc (S) ggt (G) agt (S) agt (S) ggt (G) gtt (V) caa (Q) ttt (F) tgc (C) cat (H) ggt (G) tct (S) gct (A) cat (H) ttt (F) tcc (S) tgc (C) aat (N) tct (S) cag (Q) cat (H) gga (G) ttt (F) ata (I) tcg (S) acg (T) cga (R) gga (G) cag (Q) gag (E) act (T) gga (G) tat (Y) ttt (F) ctg (L) ctg (L) ttt (F) tac (Y) aag (K) ccc (P) ctg (L) cgt (R) cag (Q) cag (Q) agt (S) gat (D) tca (S) ggt (G) tga (TER) wild type sequence in deletion region: gcc (A) ttc (F) ttc (F) atg (M) gcc (A) gcg (A) tta (L) atc (I) wt frameshift deln region length = 8 matching aa in delstart region of wt and deletion mutant: gcc (A) gcc (A) first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 60 559 F 618 * 60 skin PTCH1 1 c.1796_1799delATTT p.L600fs*22 length of cdnaseq = 4344 length of protseq = 1447 1796 1799 ATTT 4 599 2 600 2 attt Total no. of codons in cdna seq = 1448 gat tta start g-a end t-a g-- --a frameshift deletion length of cdnaseq after deletion = 4340 ter codon is tga at posn 621 Protein length after deletion = 620 Total no. of codons in del cdnaseq = 1447 last codon in array is ga ctc (L) agc (S) atg (M) gat (D) tta (L) tat (Y) cga (R) cgc (R) gag (E) ctc (L) agc (S) atg (M) gat (D) atc (I) gac (D) gcg (A) original frameshift length = 23 frameshift length = 23 frameshifted sequence: gat (D) atc (I) gac (D) gcg (A) agg (R) aca (T) gga (G) gac (D) tgg (W) ata (I) ttt (F) tct (S) gct (A) gtt (V) tta (L) caa (Q) gcc (A) cct (P) gcg (A) tca (S) gca (A) gag (E) tga (TER) wild type sequence in deletion region: gat (D) tta (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gat (D) gat (D) first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 22 600 L 621 * 22 skin PTCH1 1 c.1863_1864delAG p.R621fs*5 length of cdnaseq = 4344 length of protseq = 1447 1863 1864 AG 2 621 3 622 1 ag Total no. of codons in cdna seq = 1448 aga gtg start g-a end g-t ag- -tg frameshift deletion length of cdnaseq after deletion = 4342 ter codon is tga at posn 625 Protein length after deletion = 624 Total no. of codons in del cdnaseq = 1448 last codon in array is a tgc (C) gtc (V) agc (S) aga (R) gtg (V) att (I) cag (Q) gtt (V) gaa (E) tgc (C) gtc (V) agc (S) agt (S) gat (D) tca (S) ggt (G) original frameshift length = 5 frameshift length = 5 frameshifted sequence: agt (S) gat (D) tca (S) ggt (G) tga (TER) wild type sequence in deletion region: aga (R) gtg (V) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 5 621 R 625 * 5 skin PTCH1 1 c.1887_1887delC p.Y630fs*63 length of cdnaseq = 4344 length of protseq = 1447 1887 1887 C 1 629 3 629 3 c Total no. of codons in cdna seq = 1448 gcc gcc start c-c post t end c-t gc- --- frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tga at posn 692 Protein length after deletion = 691 Total no. of codons in del cdnaseq = 1448 last codon in array is ga gaa (E) cct (P) cag (Q) gcc (A) gcc (A) tac (Y) acc (T) gac (D) aca (T) gaa (E) cct (P) cag (Q) gct (A) aca (T) ccg (P) aca (T) original frameshift length = 64 frameshift length = 64 frameshifted sequence: gct (A) aca (T) ccg (P) aca (T) cac (H) acg (T) aca (T) ata (I) ccc (P) gct (A) aca (T) gcc (A) ccc (P) cac (H) ctc (L) cct (P) aca (T) gca (A) gcc (A) aca (T) gct (A) ttg (L) ccc (P) atg (M) aaa (K) cgc (R) aga (R) tta (L) cca (P) tgc (C) agt (S) cca (P) ctg (L) tcc (S) agc (S) tcc (S) gca (A) cgg (R) agt (S) acg (T) acc (T) ccc (P) aca (T) cgc (R) acg (T) tgt (C) act (T) aca (T) cca (P) ccg (P) ctg (L) agc (S) cgc (R) gct (A) ccg (P) aga (R) tct (S) ctg (L) tgc (C) agc (S) ccg (P) tca (S) ccg (P) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gct (A) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 63 630 Y 692 * 63 skin PTCH1 1 c.2134_2144del11 p.S713fs*21 length of cdnaseq = 4344 length of protseq = 1447 2134 2144 11 11 712 1 715 2 ctctcccagtt Total no. of codons in cdna seq = 1448 ctc ttc prev g start g-c end t-c --- --c frameshift deletion length of cdnaseq after deletion = 4333 ter codon is tga at posn 733 Protein length after deletion = 732 Total no. of codons in del cdnaseq = 1445 last codon in array is a agg (R) gac (D) ctg (L) ctc (L) ttc (F) tcc (S) gac (D) tcc (S) agc (S) agg (R) gac (D) ctg (L) ctc (L) cga (R) ctc (L) cag (Q) original frameshift length = 22 frameshift length = 22 frameshifted sequence: ctc (L) cga (R) ctc (L) cag (Q) cct (P) cca (P) ctg (L) cct (P) cga (R) gcc (A) ccc (P) ctg (L) tac (Y) gaa (E) gtg (V) gac (D) act (T) ctc (L) atc (I) ttt (F) tgc (C) tga (TER) wild type sequence in deletion region: ctc (L) tcc (S) cag (Q) ttc (F) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: ctc (L) ctc (L) first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 21 713 S 733 * 21 skin PTCH1 1 c.2146delT p.S716fs*30 length of cdnaseq = 4344 length of protseq = 1447 2146 2146 T 1 716 1 716 1 t Total no. of codons in cdna seq = 1448 tcc tcc prev c start c-t end t-c --- -cc frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tga at posn 745 Protein length after deletion = 744 Total no. of codons in del cdnaseq = 1448 last codon in array is ga tcc (S) cag (Q) ttc (F) tcc (S) tcc (S) gac (D) tcc (S) agc (S) ctc (L) tcc (S) cag (Q) ttc (F) ccg (P) act (T) cca (P) gcc (A) original frameshift length = 30 frameshift length = 30 frameshifted sequence: ccg (P) act (T) cca (P) gcc (A) tcc (S) act (T) gcc (A) tcg (S) agc (S) ccc (P) cct (P) gta (V) cga (R) agt (S) gga (G) cac (H) tct (S) cat (H) ctt (L) ttg (L) ctg (L) aga (R) agc (S) act (T) atg (M) ctc (L) ctt (L) tcc (S) tct (S) tga (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 30 716 S 745 * 30 skin PTCH1 1 c.2287delG p.V763fs*9 length of cdnaseq = 4344 length of protseq = 1447 2287 2287 G 1 763 1 763 1 g Total no. of codons in cdna seq = 1448 gtc gtc prev g start g-g end g-t --- -tc frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tga at posn 771 Protein length after deletion = 770 Total no. of codons in del cdnaseq = 1448 last codon in array is ga ttg (L) ctg (L) ggg (G) gtc (V) gtc (V) agc (S) ctt (L) tat (Y) ggc (G) ttg (L) ctg (L) ggg (G) tca (S) gcc (A) ttt (F) atg (M) original frameshift length = 9 frameshift length = 9 frameshifted sequence: tca (S) gcc (A) ttt (F) atg (M) gca (A) cca (P) ccc (P) gag (E) tga (TER) wild type sequence in deletion region: gtc (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 9 763 V 771 * 9 skin PTCH1 1 c.2439_2439delG p.N814fs*16 length of cdnaseq = 4344 length of protseq = 1447 2439 2439 G 1 813 3 813 3 g Total no. of codons in cdna seq = 1448 ccg ccg start c-g post a end g-a cc- --- frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tga at posn 829 Protein length after deletion = 828 Total no. of codons in del cdnaseq = 1448 last codon in array is ga gca (A) gac (D) tac (Y) ccg (P) ccg (P) aat (N) atc (I) cag (Q) cac (H) gca (A) gac (D) tac (Y) cca (P) ata (I) tcc (S) agc (S) original frameshift length = 17 frameshift length = 17 frameshifted sequence: cca (P) ata (I) tcc (S) agc (S) act (T) tac (Y) ttt (F) acg (T) acc (T) tac (Y) aca (T) gga (G) gtt (V) tca (S) gta (V) acg (T) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccg (P) cca (P) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 16 814 N 829 * 16 skin PTCH1 1 c.2477_2477delT p.F826fs*4 length of cdnaseq = 4344 length of protseq = 1447 2477 2477 T 1 826 2 826 2 t Total no. of codons in cdna seq = 1448 ttc ttc start t-t end t-c t-- --c frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tga at posn 829 Protein length after deletion = 828 Total no. of codons in del cdnaseq = 1448 last codon in array is ga cac (H) agg (R) agt (S) ttc (F) ttc (F) agt (S) aac (N) gtg (V) aag (K) cac (H) agg (R) agt (S) tca (S) gta (V) acg (T) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tca (S) gta (V) acg (T) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 4 826 F 829 * 4 skin PTCH1 1 c.2716_2729del14 p.L907fs*4 length of cdnaseq = 4344 length of protseq = 1447 2716 2729 14 14 906 1 910 2 cgtctggtggatgc Total no. of codons in cdna seq = 1448 cgt gca prev g start g-c end c-a --- --a frameshift deletion length of cdnaseq after deletion = 4330 ter codon is taa at posn 910 Protein length after deletion = 909 Total no. of codons in del cdnaseq = 1444 last codon in array is a act (T) aaa (K) cag (Q) cgt (R) gca (A) gat (D) ggc (G) atc (I) att (I) act (T) aaa (K) cag (Q) aga (R) tgg (W) cat (H) cat (H) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aga (R) tgg (W) cat (H) cat (H) taa (TER) wild type sequence in deletion region: cgt (R) ctg (L) gtg (V) gat (D) gca (A) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: cgt (R) aga (R) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 4 907 L 910 * 4 skin PTCH1 1 c.2866_2867delAT p.M956fs*2 length of cdnaseq = 4344 length of protseq = 1447 2866 2867 AT 2 956 1 956 2 at Total no. of codons in cdna seq = 1448 atg atg prev c start c-a end t-g --- --g frameshift deletion length of cdnaseq after deletion = 4342 ter codon is tga at posn 957 Protein length after deletion = 956 Total no. of codons in del cdnaseq = 1448 last codon in array is a gcc (A) gac (D) tac (Y) atg (M) atg (M) cct (P) gaa (E) aca (T) agg (R) gcc (A) gac (D) tac (Y) gcc (A) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gcc (A) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 2 956 M 957 * 2 skin PTCH1 1 c.3249_3249delG p.V1084fs*3 length of cdnaseq = 4344 length of protseq = 1447 3249 3249 G 1 1083 3 1083 3 g Total no. of codons in cdna seq = 1448 gtg gtg start t-g post g end g-g gt- --- frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tga at posn 1086 Protein length after deletion = 1085 Total no. of codons in del cdnaseq = 1448 last codon in array is ga gcc (A) gtg (V) ccc (P) gtg (V) gtg (V) gtc (V) atc (I) ctg (L) atc (I) gcc (A) gtg (V) ccc (P) gtg (V) tca (S) tcc (S) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gtg (V) tca (S) tcc (S) tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gtg (V) gtg (V) first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 3 1084 V 1086 * 3 skin PTCH1 1 c.378_378delG p.E127fs*10 length of cdnaseq = 4344 length of protseq = 1447 378 378 G 1 126 3 126 3 g Total no. of codons in cdna seq = 1448 gag gag start a-g post g end g-g ga- --- frameshift deletion length of cdnaseq after deletion = 4343 ter codon is taa at posn 136 Protein length after deletion = 135 Total no. of codons in del cdnaseq = 1448 last codon in array is ga acc (T) aac (N) gtg (V) gag (E) gag (E) gag (E) ctg (L) tgg (W) gtg (V) acc (T) aac (N) gtg (V) gag (E) agc (S) tgt (C) ggg (G) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gag (E) agc (S) tgt (C) ggg (G) tgg (W) aag (K) ttg (L) gag (E) gac (D) gag (E) taa (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 10 127 E 136 * 10 skin PTCH1 1 c.758_776del19 p.L254fs*9 length of cdnaseq = 4344 length of protseq = 1447 758 776 19 19 253 2 259 2 ctttgcggtggacaaactt Total no. of codons in cdna seq = 1448 cct ttc start c-c end t-c c-- --c frameshift deletion length of cdnaseq after deletion = 4325 ter codon is taa at posn 262 Protein length after deletion = 261 Total no. of codons in del cdnaseq = 1442 last codon in array is ga ggt (G) aaa (K) cct (P) cct (P) ttc (F) gac (D) cct (P) ttg (L) gaa (E) ggt (G) aaa (K) cct (P) ccg (P) acc (T) ctt (L) tgg (W) original frameshift length = 10 frameshift length = 10 frameshifted sequence: ccg (P) acc (T) ctt (L) tgg (W) aat (N) tcc (S) tgg (W) aag (K) agt (S) taa (TER) wild type sequence in deletion region: cct (P) ttg (L) cgg (R) tgg (W) aca (T) aac (N) ttc (F) wt frameshift deln region length = 7 matching aa in delstart region of wt and deletion mutant: cct (P) ccg (P) first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 9 254 L 262 * 9 skin PTCH1 1 c.809_818del10 p.K270fs*10 length of cdnaseq = 4344 length of protseq = 1447 809 818 10 10 270 2 273 2 aaataaacta Total no. of codons in cdna seq = 1448 aaa tat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 4334 ter codon is tga at posn 279 Protein length after deletion = 278 Total no. of codons in del cdnaseq = 1445 last codon in array is ga gag (E) tta (L) aag (K) aaa (K) tat (Y) caa (Q) gtg (V) gac (D) agc (S) gag (E) tta (L) aag (K) atc (I) aag (K) tgg (W) aca (T) original frameshift length = 10 frameshift length = 10 frameshifted sequence: atc (I) aag (K) tgg (W) aca (T) gct (A) ggg (G) agg (R) aaa (K) tgc (C) tga (TER) wild type sequence in deletion region: aaa (K) ata (I) aac (N) tat (Y) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 10 270 K 279 * 10 skin PTCH1 1 c.813_819delAAACTAT p.N272fs*9 length of cdnaseq = 4344 length of protseq = 1447 813 819 AAACTAT 7 271 3 273 3 aaactat Total no. of codons in cdna seq = 1448 ata tat start t-a post c end t-c at- --- frameshift deletion length of cdnaseq after deletion = 4337 ter codon is tga at posn 280 Protein length after deletion = 279 Total no. of codons in del cdnaseq = 1446 last codon in array is ga tta (L) aag (K) aaa (K) ata (I) tat (Y) caa (Q) gtg (V) gac (D) agc (S) tta (L) aag (K) aaa (K) atc (I) aag (K) tgg (W) aca (T) original frameshift length = 10 frameshift length = 10 frameshifted sequence: atc (I) aag (K) tgg (W) aca (T) gct (A) ggg (G) agg (R) aaa (K) tgc (C) tga (TER) wild type sequence in deletion region: ata (I) aac (N) tat (Y) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ata (I) atc (I) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 9 272 N 280 * 9 skin PTCH1 1 c.864_871delTCATGGTT p.Y291fs*25 length of cdnaseq = 4344 length of protseq = 1447 864 871 TCATGGTT 8 288 3 291 1 tcatggtt Total no. of codons in cdna seq = 1448 ggt tac start g-t end t-a gg- -ac frameshift deletion length of cdnaseq after deletion = 4336 ter codon is tga at posn 315 Protein length after deletion = 314 Total no. of codons in del cdnaseq = 1446 last codon in array is a gct (A) gag (E) gtt (V) ggt (G) tac (Y) atg (M) gac (D) cgc (R) ccc (P) gct (A) gag (E) gtt (V) gga (G) cat (H) gga (G) ccg (P) original frameshift length = 28 frameshift length = 28 frameshifted sequence: gga (G) cat (H) gga (G) ccg (P) ccc (P) ctg (L) cct (P) caa (Q) tcc (S) ggc (G) cga (R) tcc (S) aga (R) ctg (L) ccc (P) cgc (R) cac (H) agc (S) ccc (P) caa (Q) caa (Q) aaa (K) ttc (F) aac (N) caa (Q) acc (T) tct (S) tga (TER) wild type sequence in deletion region: ggt (G) cat (H) ggt (G) tac (Y) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: ggt (G) gga (G) matching aa in delstart region of wt and deletion mutant: cat (H) cat (H) matching aa in delstart region of wt and deletion mutant: ggt (G) gga (G) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 25 291 Y 315 * 25 skin PTCH1 2 c.1434_1437delACTG p.L479fs*11 length of cdnaseq = 4344 length of protseq = 1447 1434 1437 ACTG 4 478 3 479 3 actg Total no. of codons in cdna seq = 1448 gca ctg start c-a post t end g-t gc- --- frameshift deletion length of cdnaseq after deletion = 4340 ter codon is tga at posn 489 Protein length after deletion = 488 Total no. of codons in del cdnaseq = 1447 last codon in array is ga ctg (L) ctg (L) gtt (V) gca (A) ctg (L) tca (S) gtg (V) gct (A) gca (A) ctg (L) ctg (L) gtt (V) gct (A) cag (Q) tgg (W) ctg (L) original frameshift length = 12 frameshift length = 12 frameshifted sequence: gct (A) cag (Q) tgg (W) ctg (L) cag (Q) gac (D) tgg (W) gcc (A) tgt (C) gct (A) cat (H) tga (TER) wild type sequence in deletion region: gca (A) ctg (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gca (A) gct (A) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 11 479 L 489 * 11 skin PTCH1 2 c.2873_2873delA p.T959fs*3 length of cdnaseq = 4344 length of protseq = 1447 2873 2873 A 1 958 2 958 2 a Total no. of codons in cdna seq = 1448 gaa gaa start g-a end a-a g-- --a frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tga at posn 961 Protein length after deletion = 960 Total no. of codons in del cdnaseq = 1448 last codon in array is ga tac (Y) atg (M) cct (P) gaa (E) gaa (E) aca (T) agg (R) ctg (L) aga (R) tac (Y) atg (M) cct (P) gaa (E) caa (Q) ggc (G) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gaa (E) caa (Q) ggc (G) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 3 959 T 961 * 3 skin PTCH1 2 c.2910_2910delG p.E970fs*25 length of cdnaseq = 4344 length of protseq = 1447 2910 2910 G 1 970 3 970 3 g Total no. of codons in cdna seq = 1448 gag gag start a-g post t end g-t ga- --- frameshift deletion length of cdnaseq after deletion = 4343 ter codon is taa at posn 994 Protein length after deletion = 993 Total no. of codons in del cdnaseq = 1448 last codon in array is ga gag (E) ccc (P) atc (I) gag (E) gag (E) tat (Y) gcc (A) cag (Q) ttc (F) gag (E) ccc (P) atc (I) gat (D) atg (M) ccc (P) agt (S) original frameshift length = 25 frameshift length = 25 frameshifted sequence: gat (D) atg (M) ccc (P) agt (S) tcc (S) ctt (L) tct (S) acc (T) tca (S) acg (T) gct (A) tgc (C) ggg (G) aca (T) cct (P) cag (Q) act (T) ttg (L) tgg (W) agg (R) caa (Q) ttg (L) aaa (K) aag (K) taa (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 25 970 E 994 * 25 bone PTCH1 3 c.1371delG p.M457fs*34 length of cdnaseq = 4344 length of protseq = 1447 1371 1371 G 1 457 3 457 3 g Total no. of codons in cdna seq = 1448 atg atg start t-g post c end g-c at- --- frameshift deletion length of cdnaseq after deletion = 4343 ter codon is tga at posn 490 Protein length after deletion = 489 Total no. of codons in del cdnaseq = 1448 last codon in array is ga tgt (C) cta (L) acc (T) atg (M) atg (M) ctg (L) cgc (R) tgg (W) gac (D) tgt (C) cta (L) acc (T) atc (I) tgc (C) gct (A) ggg (G) original frameshift length = 34 frameshift length = 34 frameshifted sequence: atc (I) tgc (C) gct (A) ggg (G) act (T) gct (A) cca (P) agt (S) ccc (P) agg (R) gtg (V) ccg (P) tgg (W) ggc (G) tgg (W) ctg (L) gcg (A) tcc (S) tgc (C) tgg (W) ttg (L) cac (H) tgt (C) cag (Q) tgg (W) ctg (L) cag (Q) gac (D) tgg (W) gcc (A) tgt (C) gct (A) cat (H) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 34 457 M 490 * 34 endometrium PTEN 10 c.389delG p.R130fs*4 length of cdnaseq = 1212 length of protseq = 403 389 389 G 1 130 2 130 2 g Total no. of codons in cdna seq = 404 cga cga start c-g end g-a c-- --a frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 404 last codon in array is ga gga (G) aag (K) gga (G) cga (R) cga (R) act (T) ggt (G) gta (V) atg (M) gga (G) aag (K) gga (G) caa (Q) ctg (L) gtg (V) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: caa (Q) ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: cga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 4 130 R 133 * 4 endometrium PTEN 10 c.952_955delCTTA p.L318fs*2 length of cdnaseq = 1212 length of protseq = 403 952 955 CTTA 4 318 1 319 1 ctta Total no. of codons in cdna seq = 404 ctt act prev a start a-c end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctt (L) taa (TER) wild type sequence in deletion region: ctt (L) act (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 318 L 319 * 2 T L 10 endometrium PTEN c.952_955delCTTA p.L318fs*2 endometrium PTEN 11 c.955_958delACTT p.T319fs*1 length of cdnaseq = 1212 length of protseq = 403 955 958 ACTT 4 319 1 320 1 actt Total no. of codons in cdna seq = 404 act tta prev t start t-a end t-t --- -ta frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: act (T) tta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 319 T 319 * 1 endometrium PTEN 13 c.968delA p.N323fs*21 length of cdnaseq = 1212 length of protseq = 403 968 968 A 1 323 2 323 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga tta (L) aca (T) aaa (K) aat (N) aat (N) gat (D) ctt (L) gac (D) aaa (K) tta (L) aca (T) aaa (K) atg (M) atc (I) ttg (L) aca (T) original frameshift length = 21 frameshift length = 21 frameshifted sequence: atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 21 323 N 343 * 21 large_intestine PTEN 13 c.800delA p.K267fs*9 length of cdnaseq = 1212 length of protseq = 403 800 800 A 1 267 2 267 2 a Total no. of codons in cdna seq = 404 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga atg (M) cta (L) aaa (K) aag (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) atg (M) cta (L) aaa (K) agg (R) aca (T) aaa (K) tgt (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: agg (R) aca (T) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 9 267 K 275 * 9 autonomic_ganglia PTEN 1 c.800delA p.K267fs*9 length of cdnaseq = 1212 length of protseq = 403 800 800 A 1 267 2 267 2 a Total no. of codons in cdna seq = 404 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga atg (M) cta (L) aaa (K) aag (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) atg (M) cta (L) aaa (K) agg (R) aca (T) aaa (K) tgt (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: agg (R) aca (T) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 9 267 K 275 * 9 bone PTEN 1 c.1130_1133delGATA p.R377fs*25 length of cdnaseq = 1212 length of protseq = 403 1130 1133 GATA 4 377 2 378 2 atag Total no. of codons in cdna seq = 404 tat aga start t-a end g-a t-- --a frameshift deletion length of cdnaseq after deletion = 1208 Total no. of codons in del cdnaseq = 403 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 402 cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) cct (P) gat (D) cat (H) tat (Y) att (I) ctg (L) aca (T) original frameshift length = 27 frameshift length = 26 frameshifted sequence: tat (Y) att (I) ctg (L) aca (T) cca (P) ctg (L) act (T) ctg (L) atc (I) cag (Q) aga (R) atg (M) aac (N) ctt (L) ttg (L) atg (M) aag (K) atc (I) agc (S) ata (I) cac (H) aaa (K) tta (L) caa (Q) aag (K) tct (S) ga (end) wild type sequence in deletion region: tat (Y) aga (R) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tat (Y) tat (Y) first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 25 377 R 401 * 25 breast PTEN 1 c.1013_1023del11 p.S338fs*1 length of cdnaseq = 1212 length of protseq = 403 1013 1023 11 11 338 2 341 3 ctccaaatttt Total no. of codons in cdna seq = 404 tct ttt start t-c post a end t-a t-- --- frameshift deletion length of cdnaseq after deletion = 1201 ter codon is taa at posn 338 Protein length after deletion = 337 Total no. of codons in del cdnaseq = 401 last codon in array is a cga (R) tac (Y) ttt (F) tct (S) ttt (F) aag (K) gtg (V) aag (K) ctg (L) cga (R) tac (Y) ttt (F) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tct (S) cca (P) aat (N) ttt (F) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 1 338 S 338 * 1 breast PTEN 1 c.1154_1155delCT p.S385fs*1 length of cdnaseq = 1212 length of protseq = 403 1154 1155 CT 2 385 2 385 3 ct Total no. of codons in cdna seq = 404 tct tct start t-c post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 385 Protein length after deletion = 384 Total no. of codons in del cdnaseq = 404 last codon in array is a acc (T) act (T) gac (D) tct (S) tct (S) gat (D) cca (P) gag (E) aat (N) acc (T) act (T) gac (D) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 1 385 S 385 * 1 breast PTEN 1 c.270delT p.F90fs*9 length of cdnaseq = 1212 length of protseq = 403 270 270 T 1 90 3 90 3 t Total no. of codons in cdna seq = 404 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 404 last codon in array is ga caa (Q) tat (Y) cct (P) ttt (F) ttt (F) gaa (E) gac (D) cat (H) aac (N) caa (Q) tat (Y) cct (P) ttg (L) aag (K) acc (T) ata (I) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 9 90 F 98 * 9 breast PTEN 1 c.590delA p.K197fs*2 length of cdnaseq = 1212 length of protseq = 403 590 590 A 1 197 2 197 2 a Total no. of codons in cdna seq = 404 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 198 Protein length after deletion = 197 Total no. of codons in del cdnaseq = 404 last codon in array is ga ttg (L) ttt (F) cac (H) aag (K) aag (K) atg (M) atg (M) ttt (F) gaa (E) ttg (L) ttt (F) cac (H) aga (R) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aga (R) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 2 197 K 198 * 2 breast PTEN 1 c.635_1212del578 p.N212fs*1 length of cdnaseq = 1212 length of protseq = 403 635 1212 578 578 212 2 404 3 atcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 aat tga start a-a deletion ends at cdna end a-- --- frameshift deletion length of cdnaseq after deletion = 634 Total no. of codons in del cdnaseq = 212 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 211 gga (G) act (T) tgc (C) aat (N) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) gga (G) act (T) tgc (C) a (end) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: a (end) wild type sequence in deletion region: aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt frameshift deln region length = 193 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 1 212 N 212 * 1 breast PTEN 1 c.831_834delCTTC p.T277fs*13 length of cdnaseq = 1212 length of protseq = 403 831 834 CTTC 4 277 3 278 3 attc Total no. of codons in cdna seq = 404 aca ttc start c-a post t end c-t ac- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tag at posn 289 Protein length after deletion = 288 Total no. of codons in del cdnaseq = 403 last codon in array is ga tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) tgg (W) gta (V) aat (N) act (T) tca (S) tac (Y) cag (Q) original frameshift length = 13 frameshift length = 13 frameshifted sequence: act (T) tca (S) tac (Y) cag (Q) gac (D) cag (Q) agg (R) aaa (K) cct (P) cag (Q) aaa (K) aag (K) tag (TER) wild type sequence in deletion region: aca (T) ttc (F) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aca (T) act (T) first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 12 277 T 289 * 13 F T 1 breast PTEN c.831_834delCTTC p.T277fs*13 breast PTEN 1 c.951_954delACTT p.V317fs*3 length of cdnaseq = 1212 length of protseq = 403 951 954 ACTT 4 317 3 318 3 actt Total no. of codons in cdna seq = 404 gta ctt start t-a post a end t-a gt- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gta (V) ctt (L) taa (TER) wild type sequence in deletion region: gta (V) ctt (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gta (V) gta (V) matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 317 V 319 * 3 T V 1 breast PTEN c.951_954delACTT p.V317fs*3 breast PTEN 1 c.955_958delACTT p.T319fs*1 length of cdnaseq = 1212 length of protseq = 403 955 958 ACTT 4 319 1 320 1 actt Total no. of codons in cdna seq = 404 act tta prev t start t-a end t-t --- -ta frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: act (T) tta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 319 T 319 * 1 breast PTEN 1 c.987_996del10 p.N329fs*12 length of cdnaseq = 1212 length of protseq = 403 987 996 10 10 329 3 332 3 taaagacaaa Total no. of codons in cdna seq = 404 aat aaa start a-t post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 1202 ter codon is tga at posn 340 Protein length after deletion = 339 Total no. of codons in del cdnaseq = 401 last codon in array is ga gac (D) aaa (K) gca (A) aat (N) aaa (K) gcc (A) aac (N) cga (R) tac (Y) gac (D) aaa (K) gca (A) aag (K) cca (P) acc (T) gat (D) original frameshift length = 12 frameshift length = 12 frameshifted sequence: aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aat (N) aaa (K) gac (D) aaa (K) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 12 329 N 340 * 12 central_nervous_system PTEN 1 c.1004_1007delGATA p.R335fs*8 length of cdnaseq = 1212 length of protseq = 403 1004 1007 GATA 4 335 2 336 2 gata Total no. of codons in cdna seq = 404 cga tac start c-g end a-c c-- --c frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 403 last codon in array is ga aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) aaa (K) gcc (A) aac (N) cct (P) ttt (F) ctc (L) caa (Q) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cct (P) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: cga (R) tac (Y) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 8 335 R 342 * 8 central_nervous_system PTEN 1 c.1009_1012delTTTT p.F337fs*6 length of cdnaseq = 1212 length of protseq = 403 1009 1012 TTTT 4 337 1 338 1 tttt Total no. of codons in cdna seq = 404 ttt tct prev c start c-t end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 403 last codon in array is ga aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) aac (N) cga (R) tac (Y) ctc (L) caa (Q) att (I) tta (L) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: ttt (F) tct (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 6 337 F 342 * 6 central_nervous_system PTEN 1 c.1011_1014delTTCT p.F337fs*6 length of cdnaseq = 1212 length of protseq = 403 1011 1014 TTCT 4 337 3 338 3 ttct Total no. of codons in cdna seq = 404 ttt tct start t-t post c end t-c tt- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 403 last codon in array is ga aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) aac (N) cga (R) tac (Y) ttc (F) caa (Q) att (I) tta (L) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ttc (F) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: ttt (F) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ttt (F) ttc (F) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 5 337 F 342 * 6 S F 1 central_nervous_system PTEN c.1011_1014delTTCT p.F337fs*6 central_nervous_system PTEN 1 c.1040delT p.F347fs*5 length of cdnaseq = 1212 length of protseq = 403 1040 1040 T 1 347 2 347 2 t Total no. of codons in cdna seq = 404 ttc ttc start t-t end t-c t-- --c frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 351 Protein length after deletion = 350 Total no. of codons in del cdnaseq = 404 last codon in array is ga aag (K) ctg (L) tac (Y) ttc (F) ttc (F) aca (T) aaa (K) aca (T) gta (V) aag (K) ctg (L) tac (Y) tca (S) caa (Q) aaa (K) cag (Q) original frameshift length = 5 frameshift length = 5 frameshifted sequence: tca (S) caa (Q) aaa (K) cag (Q) tag (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 5 347 F 351 * 5 central_nervous_system PTEN 1 c.127delG p.E43fs*11 length of cdnaseq = 1212 length of protseq = 403 127 127 G 1 43 1 43 1 g Total no. of codons in cdna seq = 404 gaa gaa prev t start t-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 53 Protein length after deletion = 52 Total no. of codons in del cdnaseq = 404 last codon in array is ga gaa (E) aga (R) ctt (L) gaa (E) gaa (E) ggc (G) gta (V) tac (Y) agg (R) gaa (E) aga (R) ctt (L) aag (K) gcg (A) tat (Y) aca (T) original frameshift length = 11 frameshift length = 11 frameshifted sequence: aag (K) gcg (A) tat (Y) aca (T) gga (G) aca (T) ata (I) ttg (L) atg (M) atg (M) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 11 43 E 53 * 11 central_nervous_system PTEN 1 c.160_208del49 p.V54fs*29 length of cdnaseq = 1212 length of protseq = 403 160 208 49 49 54 1 70 1 gtaaggtttttggattcaaagcataaaaaccattacaagatatacaatc Total no. of codons in cdna seq = 404 gta ctt prev a start a-g end c-t --- -tt frameshift deletion length of cdnaseq after deletion = 1163 ter codon is tag at posn 82 Protein length after deletion = 81 Total no. of codons in del cdnaseq = 388 last codon in array is ga gat (D) gat (D) gta (V) gta (V) ctt (L) tgt (C) gct (A) gaa (E) aga (R) gat (D) gat (D) gta (V) ttt (F) gtg (V) ctg (L) aaa (K) original frameshift length = 29 frameshift length = 29 frameshifted sequence: ttt (F) gtg (V) ctg (L) aaa (K) gac (D) att (I) atg (M) aca (T) ccg (P) cca (P) aat (N) tta (L) att (I) gca (A) gag (E) ttg (L) cac (H) aat (N) atc (I) ctt (L) ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: gta (V) agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) wt frameshift deln region length = 17 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 29 54 V 82 * 29 central_nervous_system PTEN 1 c.165_492del328 p.F56fs*2 length of cdnaseq = 1212 length of protseq = 403 165 492 328 328 55 3 164 3 gtttttggattcaaagcataaaaaccattacaagatatacaatctttgtgctgaaagacattatgacaccgccaaatttaattgcagagttgcacaatatccttttgaagaccataacccaccacagctagaacttatcaaacccttttgtgaagatcttgaccaatggctaagtgaagatgacaatcatgttgcagcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaatttttaaaggcacaagaggccctagatttctatggggaagtaaggaccagagacaaaaag Total no. of codons in cdna seq = 404 agg aag start g-g post g end g-g ag- --- frameshift deletion length of cdnaseq after deletion = 884 ter codon is taa at posn 57 Protein length after deletion = 56 Total no. of codons in del cdnaseq = 295 last codon in array is ga gat (D) gta (V) gta (V) agg (R) aag (K) gga (G) gta (V) act (T) att (I) gat (D) gta (V) gta (V) agg (R) gag (E) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: agg (R) gag (E) taa (TER) wild type sequence in deletion region: agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) gat (D) ctt (L) gac (D) caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) gat (D) ttc (F) tat (Y) ggg (G) gaa (E) gta (V) agg (R) acc (T) aga (R) gac (D) aaa (K) aag (K) wt frameshift deln region length = 110 matching aa in delstart region of wt and deletion mutant: agg (R) agg (R) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 2 56 F 57 * 2 central_nervous_system PTEN 1 c.17_18delAA p.K6fs*4 length of cdnaseq = 1212 length of protseq = 403 17 18 AA 2 6 2 6 3 aa Total no. of codons in cdna seq = 404 aaa aaa start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 9 Protein length after deletion = 8 Total no. of codons in del cdnaseq = 404 last codon in array is a gcc (A) atc (I) atc (I) aaa (K) aaa (K) gag (E) atc (I) gtt (V) agc (S) gcc (A) atc (I) atc (I) aga (R) gat (D) cgt (R) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aga (R) gat (D) cgt (R) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 4 6 K 9 * 4 central_nervous_system PTEN 1 c.212_255del44 p.C71fs*6 length of cdnaseq = 1212 length of protseq = 403 212 255 44 44 71 2 85 3 gtgctgaaagacattatgacaccgccaaatttaattgcagagtt Total no. of codons in cdna seq = 404 tgt gtt start t-g post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 1168 ter codon is tga at posn 76 Protein length after deletion = 75 Total no. of codons in del cdnaseq = 390 last codon in array is a tac (Y) aat (N) ctt (L) tgt (C) gtt (V) gca (A) caa (Q) tat (Y) cct (P) tac (Y) aat (N) ctt (L) tgc (C) aca (T) ata (I) tcc (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tgc (C) aca (T) ata (I) tcc (S) ttt (F) tga (TER) wild type sequence in deletion region: tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) wt frameshift deln region length = 15 matching aa in delstart region of wt and deletion mutant: tgt (C) tgc (C) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 5 71 C 76 * 6 A C 1 central_nervous_system PTEN c.212_255del44 p.C71fs*6 central_nervous_system PTEN 1 c.232_233delAC p.T78fs*4 length of cdnaseq = 1212 length of protseq = 403 232 233 AC 2 78 1 78 2 ac Total no. of codons in cdna seq = 404 acc acc prev c start c-a end c-c --- --c frameshift deletion length of cdnaseq after deletion = 1210 ter codon is taa at posn 81 Protein length after deletion = 80 Total no. of codons in del cdnaseq = 404 last codon in array is a cat (H) tat (Y) gac (D) acc (T) acc (T) gcc (A) aaa (K) ttt (F) aat (N) cat (H) tat (Y) gac (D) cgc (R) caa (Q) att (I) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: cgc (R) caa (Q) att (I) taa (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 4 78 T 81 * 4 central_nervous_system PTEN 1 c.237delC p.A79fs*20 length of cdnaseq = 1212 length of protseq = 403 237 237 C 1 79 3 79 3 c Total no. of codons in cdna seq = 404 gcc gcc start c-c post a end c-a gc- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 404 last codon in array is ga tat (Y) gac (D) acc (T) gcc (A) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) tat (Y) gac (D) acc (T) gca (A) aat (N) tta (L) att (I) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gca (A) aat (N) tta (L) att (I) gca (A) gag (E) ttg (L) cac (H) aat (N) atc (I) ctt (L) ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 19 79 A 98 * 20 K A 1 central_nervous_system PTEN c.237delC p.A79fs*20 central_nervous_system PTEN 1 c.314_315delGT p.C105fs*1 length of cdnaseq = 1212 length of protseq = 403 314 315 GT 2 105 2 105 3 gt Total no. of codons in cdna seq = 404 tgt tgt start t-g post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 105 Protein length after deletion = 104 Total no. of codons in del cdnaseq = 404 last codon in array is a aaa (K) ccc (P) ttt (F) tgt (C) tgt (C) gaa (E) gat (D) ctt (L) gac (D) aaa (K) ccc (P) ttt (F) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tgt (C) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 1 105 C 105 * 1 central_nervous_system PTEN 1 c.35_53del19 p.N12fs*6 length of cdnaseq = 1212 length of protseq = 403 35 53 19 19 12 2 18 2 acaaaaggagatatcaaga Total no. of codons in cdna seq = 404 aac gag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1193 ter codon is tag at posn 17 Protein length after deletion = 16 Total no. of codons in del cdnaseq = 398 last codon in array is ga gtt (V) agc (S) aga (R) aac (N) gag (E) gat (D) gga (G) ttc (F) gac (D) gtt (V) agc (S) aga (R) agg (R) atg (M) gat (D) tcg (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: agg (R) atg (M) gat (D) tcg (S) act (T) tag (TER) wild type sequence in deletion region: aac (N) aaa (K) agg (R) aga (R) tat (Y) caa (Q) gag (E) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 6 12 N 17 * 6 central_nervous_system PTEN 1 c.389delG p.R130fs*4 length of cdnaseq = 1212 length of protseq = 403 389 389 G 1 130 2 130 2 g Total no. of codons in cdna seq = 404 cga cga start c-g end g-a c-- --a frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 404 last codon in array is ga gga (G) aag (K) gga (G) cga (R) cga (R) act (T) ggt (G) gta (V) atg (M) gga (G) aag (K) gga (G) caa (Q) ctg (L) gtg (V) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: caa (Q) ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: cga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 4 130 R 133 * 4 central_nervous_system PTEN 1 c.404delT p.I135fs*12 length of cdnaseq = 1212 length of protseq = 403 404 404 T 1 135 2 135 2 t Total no. of codons in cdna seq = 404 ata ata start a-t end t-a a-- --a frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 146 Protein length after deletion = 145 Total no. of codons in del cdnaseq = 404 last codon in array is ga ggt (G) gta (V) atg (M) ata (I) ata (I) tgt (C) gca (A) tat (Y) tta (L) ggt (G) gta (V) atg (M) aat (N) gtg (V) cat (H) att (I) original frameshift length = 12 frameshift length = 12 frameshifted sequence: aat (N) gtg (V) cat (H) att (I) tat (Y) tac (Y) atc (I) ggg (G) gca (A) aat (N) ttt (F) taa (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ata (I) final frameshift length = 12 135 I 146 * 12 central_nervous_system PTEN 1 c.415_416delTT p.L139fs*40 length of cdnaseq = 1212 length of protseq = 403 415 416 TT 2 139 1 139 2 tt Total no. of codons in cdna seq = 404 tta tta prev t start t-t end t-a --- --a frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 178 Protein length after deletion = 177 Total no. of codons in del cdnaseq = 404 last codon in array is a tgt (C) gca (A) tat (Y) tta (L) tta (L) tta (L) cat (H) cgg (R) ggc (G) tgt (C) gca (A) tat (Y) att (I) aca (T) tcg (S) ggg (G) original frameshift length = 40 frameshift length = 40 frameshifted sequence: att (I) aca (T) tcg (S) ggg (G) caa (Q) att (I) ttt (F) aaa (K) ggc (G) aca (T) aga (R) ggc (G) cct (P) aga (R) ttt (F) cta (L) tgg (W) gga (G) agt (S) aag (K) gac (D) cag (Q) aga (R) caa (Q) aaa (K) ggg (G) agt (S) aac (N) tat (Y) tcc (S) cag (Q) tca (S) gag (E) gcg (A) cta (L) tgt (C) gta (V) tta (L) tta (L) tag (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 40 139 L 178 * 40 central_nervous_system PTEN 1 c.42_52del11 p.R14fs*26 length of cdnaseq = 1212 length of protseq = 403 42 52 11 11 14 3 18 1 gagatatcaag Total no. of codons in cdna seq = 404 agg gag start g-g end g-a ag- -ag frameshift deletion length of cdnaseq after deletion = 1201 ter codon is tga at posn 39 Protein length after deletion = 38 Total no. of codons in del cdnaseq = 401 last codon in array is a aga (R) aac (N) aaa (K) agg (R) gag (E) gat (D) gga (G) ttc (F) gac (D) aga (R) aac (N) aaa (K) aga (R) gga (G) tgg (W) att (I) original frameshift length = 26 frameshift length = 26 frameshifted sequence: aga (R) gga (G) tgg (W) att (I) cga (R) ctt (L) aga (R) ctt (L) gac (D) cta (L) tat (Y) tta (L) tcc (S) aaa (K) cat (H) tat (Y) tgc (C) tat (Y) ggg (G) att (I) tcc (S) tgc (C) aga (R) aag (K) act (T) tga (TER) wild type sequence in deletion region: agg (R) aga (R) tat (Y) caa (Q) gag (E) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: agg (R) aga (R) first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 25 14 R 39 * 26 central_nervous_system PTEN 1 c.475delA p.R159fs*8 length of cdnaseq = 1212 length of protseq = 403 475 475 A 1 159 1 159 1 a Total no. of codons in cdna seq = 404 agg agg prev a start a-a end a-g --- -gg frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 166 Protein length after deletion = 165 Total no. of codons in del cdnaseq = 404 last codon in array is ga ggg (G) gaa (E) gta (V) agg (R) agg (R) acc (T) aga (R) gac (D) aaa (K) ggg (G) gaa (E) gta (V) gga (G) cca (P) gag (E) aca (T) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gga (G) cca (P) gag (E) aca (T) aaa (K) agg (R) gag (E) taa (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 8 159 R 166 * 8 central_nervous_system PTEN 1 c.510_514delTCAGA p.S170fs*8 length of cdnaseq = 1212 length of protseq = 403 510 514 TCAGA 5 170 3 172 1 tcaga Total no. of codons in cdna seq = 404 agt agg start g-t end a-g ag- -gg frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tag at posn 177 Protein length after deletion = 176 Total no. of codons in del cdnaseq = 403 last codon in array is a act (T) att (I) ccc (P) agt (S) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) act (T) att (I) ccc (P) agg (R) gcg (A) cta (L) tgt (C) original frameshift length = 8 frameshift length = 8 frameshifted sequence: agg (R) gcg (A) cta (L) tgt (C) gta (V) tta (L) tta (L) tag (TER) wild type sequence in deletion region: agt (S) cag (Q) agg (R) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 8 170 S 177 * 8 central_nervous_system PTEN 1 c.557delT p.L186fs*13 length of cdnaseq = 1212 length of protseq = 403 557 557 T 1 186 2 186 2 t Total no. of codons in cdna seq = 404 ctg ctg start c-t end t-g c-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 198 Protein length after deletion = 197 Total no. of codons in del cdnaseq = 404 last codon in array is ga aag (K) aat (N) cat (H) ctg (L) ctg (L) gat (D) tat (Y) aga (R) cca (P) aag (K) aat (N) cat (H) cgg (R) att (I) ata (I) gac (D) original frameshift length = 13 frameshift length = 13 frameshifted sequence: cgg (R) att (I) ata (I) gac (D) cag (Q) tgg (W) cac (H) tgt (C) tgt (C) ttc (F) aca (T) aga (R) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 13 186 L 198 * 13 central_nervous_system PTEN 1 c.567_571delACCAG p.R189fs*11 length of cdnaseq = 1212 length of protseq = 403 567 571 ACCAG 5 189 3 191 1 accag Total no. of codons in cdna seq = 404 aga gtg start g-a end g-t ag- -tg frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 199 Protein length after deletion = 198 Total no. of codons in del cdnaseq = 403 last codon in array is a ctg (L) gat (D) tat (Y) aga (R) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) ctg (L) gat (D) tat (Y) agt (S) ggc (G) act (T) gtt (V) original frameshift length = 11 frameshift length = 11 frameshifted sequence: agt (S) ggc (G) act (T) gtt (V) gtt (V) tca (S) caa (Q) gat (D) gat (D) gtt (V) tga (TER) wild type sequence in deletion region: aga (R) cca (P) gtg (V) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 11 189 R 199 * 11 central_nervous_system PTEN 1 c.573_583del11 p.V191fs*7 length of cdnaseq = 1212 length of protseq = 403 573 583 11 11 191 3 195 1 ggcactgttgt Total no. of codons in cdna seq = 404 gtg ttt start t-g end t-t gt- -tt frameshift deletion length of cdnaseq after deletion = 1201 ter codon is tga at posn 197 Protein length after deletion = 196 Total no. of codons in del cdnaseq = 401 last codon in array is a tat (Y) aga (R) cca (P) gtg (V) ttt (F) cac (H) aag (K) atg (M) atg (M) tat (Y) aga (R) cca (P) gtt (V) tca (S) caa (Q) gat (D) original frameshift length = 7 frameshift length = 7 frameshifted sequence: gtt (V) tca (S) caa (Q) gat (D) gat (D) gtt (V) tga (TER) wild type sequence in deletion region: gtg (V) gca (A) ctg (L) ttg (L) ttt (F) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: gtg (V) gtt (V) first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 6 191 V 197 * 7 A V 1 central_nervous_system PTEN c.573_583del11 p.V191fs*7 central_nervous_system PTEN 1 c.575delC p.A192fs*7 length of cdnaseq = 1212 length of protseq = 403 575 575 C 1 192 2 192 2 c Total no. of codons in cdna seq = 404 gca gca start g-c end c-a g-- --a frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 198 Protein length after deletion = 197 Total no. of codons in del cdnaseq = 404 last codon in array is ga aga (R) cca (P) gtg (V) gca (A) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aga (R) cca (P) gtg (V) gac (D) tgt (C) tgt (C) ttc (F) original frameshift length = 7 frameshift length = 7 frameshifted sequence: gac (D) tgt (C) tgt (C) ttc (F) aca (T) aga (R) tga (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 7 192 A 198 * 7 central_nervous_system PTEN 1 c.597delG p.M199fs*22 length of cdnaseq = 1212 length of protseq = 403 597 597 G 1 199 3 199 3 g Total no. of codons in cdna seq = 404 atg atg start t-g post t end g-t at- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 220 Protein length after deletion = 219 Total no. of codons in del cdnaseq = 404 last codon in array is ga cac (H) aag (K) atg (M) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cac (H) aag (K) atg (M) att (I) ttg (L) aaa (K) cta (L) original frameshift length = 22 frameshift length = 22 frameshifted sequence: att (I) ttg (L) aaa (K) cta (L) ttc (F) caa (Q) tgt (C) tca (S) gtg (V) gcg (A) gaa (E) ctt (L) gca (A) atc (I) ctc (L) agt (S) ttg (L) tgg (W) tct (S) gcc (A) agc (S) taa (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 22 199 M 220 * 22 central_nervous_system PTEN 1 c.604delA p.T202fs*19 length of cdnaseq = 1212 length of protseq = 403 604 604 A 1 202 1 202 1 a Total no. of codons in cdna seq = 404 act act prev a start a-a end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 220 Protein length after deletion = 219 Total no. of codons in del cdnaseq = 404 last codon in array is ga atg (M) ttt (F) gaa (E) act (T) act (T) att (I) cca (P) atg (M) ttc (F) atg (M) ttt (F) gaa (E) cta (L) ttc (F) caa (Q) tgt (C) original frameshift length = 19 frameshift length = 19 frameshifted sequence: cta (L) ttc (F) caa (Q) tgt (C) tca (S) gtg (V) gcg (A) gaa (E) ctt (L) gca (A) atc (I) ctc (L) agt (S) ttg (L) tgg (W) tct (S) gcc (A) agc (S) taa (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 19 202 T 220 * 19 central_nervous_system PTEN 1 c.611delC p.P204fs*17 length of cdnaseq = 1212 length of protseq = 403 611 611 C 1 204 2 204 2 c Total no. of codons in cdna seq = 404 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 220 Protein length after deletion = 219 Total no. of codons in del cdnaseq = 404 last codon in array is ga gaa (E) act (T) att (I) cca (P) cca (P) atg (M) ttc (F) agt (S) ggc (G) gaa (E) act (T) att (I) caa (Q) tgt (C) tca (S) gtg (V) original frameshift length = 17 frameshift length = 17 frameshifted sequence: caa (Q) tgt (C) tca (S) gtg (V) gcg (A) gaa (E) ctt (L) gca (A) atc (I) ctc (L) agt (S) ttg (L) tgg (W) tct (S) gcc (A) agc (S) taa (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 17 204 P 220 * 17 central_nervous_system PTEN 1 c.638_638delC p.P213fs*4 length of cdnaseq = 1212 length of protseq = 403 638 638 C 1 213 2 213 2 c Total no. of codons in cdna seq = 404 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 220 Protein length after deletion = 219 Total no. of codons in del cdnaseq = 404 last codon in array is ga act (T) tgc (C) aat (N) cct (P) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) act (T) tgc (C) aat (N) ctc (L) agt (S) ttg (L) tgg (W) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ctc (L) agt (S) ttg (L) tgg (W) tct (S) gcc (A) agc (S) taa (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 8 213 P 216 * 4 central_nervous_system PTEN 1 c.690delA p.G230fs*26 length of cdnaseq = 1212 length of protseq = 403 690 690 A 1 230 3 230 3 a Total no. of codons in cdna seq = 404 gga gga start g-a post c end a-c gg- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 255 Protein length after deletion = 254 Total no. of codons in del cdnaseq = 404 last codon in array is ga tcc (S) aat (N) tca (S) gga (G) gga (G) ccc (P) aca (T) cga (R) cgg (R) tcc (S) aat (N) tca (S) ggc (G) cca (P) cac (H) gac (D) original frameshift length = 26 frameshift length = 26 frameshifted sequence: ggc (G) cca (P) cac (H) gac (D) ggg (G) aag (K) aca (T) agt (S) tca (S) tgt (C) act (T) ttg (L) agt (S) tcc (S) ctc (L) agc (S) cgt (R) tac (Y) ctg (L) tgt (C) gtg (V) gtg (V) ata (I) tca (S) aag (K) tag (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gga (G) ggc (G) matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 24 230 G 255 * 26 T G 1 central_nervous_system PTEN c.690delA p.G230fs*26 central_nervous_system PTEN 1 c.858delC p.S287fs*4 length of cdnaseq = 1212 length of protseq = 403 858 858 C 1 286 3 286 3 c Total no. of codons in cdna seq = 404 acc acc start c-c post t end c-t ac- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 290 Protein length after deletion = 289 Total no. of codons in del cdnaseq = 404 last codon in array is ga cca (P) gag (E) gaa (E) acc (T) acc (T) tca (S) gaa (E) aaa (K) gta (V) cca (P) gag (E) gaa (E) act (T) cag (Q) aaa (K) aag (K) original frameshift length = 5 frameshift length = 5 frameshifted sequence: act (T) cag (Q) aaa (K) aag (K) tag (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acc (T) act (T) first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 4 287 S 290 * 4 central_nervous_system PTEN 1 c.888delT p.C296fs*11 length of cdnaseq = 1212 length of protseq = 403 888 888 T 1 296 3 296 3 t Total no. of codons in cdna seq = 404 tgt tgt start g-t post g end t-g tg- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 306 Protein length after deletion = 305 Total no. of codons in del cdnaseq = 404 last codon in array is ga gga (G) agt (S) cta (L) tgt (C) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gga (G) agt (S) cta (L) tgg (W) atc (I) aag (K) aaa (K) original frameshift length = 11 frameshift length = 11 frameshifted sequence: tgg (W) atc (I) aag (K) aaa (K) tcg (S) ata (I) gca (A) ttt (F) gca (A) gta (V) tag (TER) wild type sequence in deletion region: tgt (C) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 11 296 C 306 * 11 central_nervous_system PTEN 1 c.940delG p.E314fs*3 length of cdnaseq = 1212 length of protseq = 403 940 940 G 1 314 1 314 1 g Total no. of codons in cdna seq = 404 gaa gaa prev g start g-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 316 Protein length after deletion = 315 Total no. of codons in del cdnaseq = 404 last codon in array is ga aat (N) gac (D) aag (K) gaa (E) gaa (E) tat (Y) cta (L) gta (V) ctt (L) aat (N) gac (D) aag (K) aat (N) atc (I) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aat (N) atc (I) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 3 314 E 316 * 3 central_nervous_system PTEN 1 c.942delA p.E314fs*3 length of cdnaseq = 1212 length of protseq = 403 942 942 A 1 314 3 314 3 a Total no. of codons in cdna seq = 404 gaa gaa start a-a post t end a-t ga- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 316 Protein length after deletion = 315 Total no. of codons in del cdnaseq = 404 last codon in array is ga aat (N) gac (D) aag (K) gaa (E) gaa (E) tat (Y) cta (L) gta (V) ctt (L) aat (N) gac (D) aag (K) gat (D) atc (I) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gat (D) atc (I) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 3 314 E 316 * 3 central_nervous_system PTEN 1 c.951_954delACTT p.V317fs*3 length of cdnaseq = 1212 length of protseq = 403 951 954 ACTT 4 317 3 318 3 actt Total no. of codons in cdna seq = 404 gta ctt start t-a post a end t-a gt- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gta (V) ctt (L) taa (TER) wild type sequence in deletion region: gta (V) ctt (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gta (V) gta (V) matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 317 V 319 * 3 T V 1 central_nervous_system PTEN c.951_954delACTT p.V317fs*3 central_nervous_system PTEN 1 c.952_955delCTTA p.T318fs*2 length of cdnaseq = 1212 length of protseq = 403 952 955 CTTA 4 318 1 319 1 ctta Total no. of codons in cdna seq = 404 ctt act prev a start a-c end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctt (L) taa (TER) wild type sequence in deletion region: ctt (L) act (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 318 T 319 * 2 central_nervous_system PTEN 1 c.982_986delGCAAA p.A328fs*1 length of cdnaseq = 1212 length of protseq = 403 982 986 GCAAA 5 328 1 329 2 gcaaa Total no. of codons in cdna seq = 404 gca aat prev a start a-g end a-t --- --t frameshift deletion length of cdnaseq after deletion = 1207 ter codon is taa at posn 328 Protein length after deletion = 327 Total no. of codons in del cdnaseq = 403 last codon in array is a ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) ctt (L) gac (D) aaa (K) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: gca (A) aat (N) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 1 328 A 328 * 1 central_nervous_system PTEN 1 c.987_990delTAAA p.N329fs*14 length of cdnaseq = 1212 length of protseq = 403 987 990 TAAA 4 329 3 330 3 taaa Total no. of codons in cdna seq = 404 aat aaa start a-t post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 403 last codon in array is ga gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) gac (D) aaa (K) gca (A) aag (K) aca (T) aag (K) cca (P) original frameshift length = 14 frameshift length = 14 frameshifted sequence: aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aat (N) aaa (K) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 14 329 N 342 * 14 cervix PTEN 1 c.1038_1053del16 p.Y346fs*1 length of cdnaseq = 1212 length of protseq = 403 1038 1053 16 16 346 3 351 3 cttcacaaaaacagta Total no. of codons in cdna seq = 404 tac gta start a-c post g end a-g ta- --- frameshift deletion length of cdnaseq after deletion = 1196 ter codon is tag at posn 346 Protein length after deletion = 345 Total no. of codons in del cdnaseq = 399 last codon in array is ga gtg (V) aag (K) ctg (L) tac (Y) gta (V) gag (E) gag (E) ccg (P) tca (S) gtg (V) aag (K) ctg (L) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 1 346 Y 346 * 1 cervix PTEN 1 c.380_386delGAAAGGG p.G127fs*5 length of cdnaseq = 1212 length of protseq = 403 380 386 GAAAGGG 7 127 2 129 2 gaaaggg Total no. of codons in cdna seq = 404 gga gga start g-g end g-a g-- --a frameshift deletion length of cdnaseq after deletion = 1205 ter codon is taa at posn 131 Protein length after deletion = 130 Total no. of codons in del cdnaseq = 402 last codon in array is ga tgt (C) aaa (K) gct (A) gga (G) gga (G) cga (R) act (T) ggt (G) gta (V) tgt (C) aaa (K) gct (A) gac (D) gaa (E) ctg (L) gtg (V) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gac (D) gaa (E) ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: gga (G) aag (K) gga (G) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 5 127 G 131 * 5 cervix PTEN 1 c.416_419delTATT p.L139fs*7 length of cdnaseq = 1212 length of protseq = 403 416 419 TATT 4 139 2 140 2 tatt Total no. of codons in cdna seq = 404 tta tta start t-t end t-a t-- --a frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 403 last codon in array is ga tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) tgt (C) gca (A) tat (Y) tac (Y) atc (I) ggg (G) gca (A) original frameshift length = 7 frameshift length = 7 frameshifted sequence: tac (Y) atc (I) ggg (G) gca (A) aat (N) ttt (F) taa (TER) wild type sequence in deletion region: tta (L) tta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 7 139 L 145 * 7 endometrium PTEN 1 c.1004_1014del11 p.R335fs*4 length of cdnaseq = 1212 length of protseq = 403 1004 1014 11 11 335 2 338 3 gatacttttct Total no. of codons in cdna seq = 404 cga tct start c-g post c end t-c c-- --- frameshift deletion length of cdnaseq after deletion = 1201 ter codon is taa at posn 338 Protein length after deletion = 337 Total no. of codons in del cdnaseq = 401 last codon in array is a aaa (K) gcc (A) aac (N) cga (R) tct (S) cca (P) aat (N) ttt (F) aag (K) aaa (K) gcc (A) aac (N) ccc (P) aaa (K) ttt (F) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: ccc (P) aaa (K) ttt (F) taa (TER) wild type sequence in deletion region: cga (R) tac (Y) ttt (F) tct (S) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 4 335 R 338 * 4 endometrium PTEN 1 c.1009delT p.F337fs*7 length of cdnaseq = 1212 length of protseq = 403 1009 1009 T 1 337 1 337 1 t Total no. of codons in cdna seq = 404 ttt ttt prev c start c-t end t-t --- -tt frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga aac (N) cga (R) tac (Y) ttt (F) ttt (F) tct (S) cca (P) aat (N) ttt (F) aac (N) cga (R) tac (Y) ttt (F) ctc (L) caa (Q) att (I) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttt (F) ttt (F) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 6 337 F 343 * 7 S F 1 endometrium PTEN c.1009delT p.F337fs*7 endometrium PTEN 1 c.1011_1014delTTCT p.F337fs*6 length of cdnaseq = 1212 length of protseq = 403 1011 1014 TTCT 4 337 3 338 3 ttct Total no. of codons in cdna seq = 404 ttt tct start t-t post c end t-c tt- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 403 last codon in array is ga aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) aac (N) cga (R) tac (Y) ttc (F) caa (Q) att (I) tta (L) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ttc (F) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: ttt (F) tct (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ttt (F) ttc (F) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 5 337 F 342 * 6 S F 1 endometrium PTEN c.1011_1014delTTCT p.F337fs*6 endometrium PTEN 1 c.1012delT p.S338fs*6 length of cdnaseq = 1212 length of protseq = 403 1012 1012 T 1 338 1 338 1 t Total no. of codons in cdna seq = 404 tct tct prev t start t-t end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga cga (R) tac (Y) ttt (F) tct (S) tct (S) cca (P) aat (N) ttt (F) aag (K) cga (R) tac (Y) ttt (F) ctc (L) caa (Q) att (I) tta (L) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 6 338 S 343 * 6 endometrium PTEN 1 c.131_137delGCGTATA p.G44fs*8 length of cdnaseq = 1212 length of protseq = 403 131 137 GCGTATA 7 44 2 46 2 gcgtata Total no. of codons in cdna seq = 404 ggc tac start g-g end a-c g-- --c frameshift deletion length of cdnaseq after deletion = 1205 ter codon is tag at posn 51 Protein length after deletion = 50 Total no. of codons in del cdnaseq = 402 last codon in array is ga aga (R) ctt (L) gaa (E) ggc (G) tac (Y) agg (R) aac (N) aat (N) att (I) aga (R) ctt (L) gaa (E) gca (A) gga (G) aca (T) ata (I) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gca (A) gga (G) aca (T) ata (I) ttg (L) atg (M) atg (M) tag (TER) wild type sequence in deletion region: ggc (G) gta (V) tac (Y) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 8 44 G 51 * 8 endometrium PTEN 1 c.143delA p.N48fs*6 length of cdnaseq = 1212 length of protseq = 403 143 143 A 1 48 2 48 2 a Total no. of codons in cdna seq = 404 aac aac start a-a end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 53 Protein length after deletion = 52 Total no. of codons in del cdnaseq = 404 last codon in array is ga gta (V) tac (Y) agg (R) aac (N) aac (N) aat (N) att (I) gat (D) gat (D) gta (V) tac (Y) agg (R) aca (T) ata (I) ttg (L) atg (M) original frameshift length = 6 frameshift length = 6 frameshifted sequence: aca (T) ata (I) ttg (L) atg (M) atg (M) tag (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 6 48 N 53 * 6 endometrium PTEN 1 c.165_181del17 p.R55fs*2 length of cdnaseq = 1212 length of protseq = 403 165 181 17 17 55 3 61 1 gtttttggattcaaagc Total no. of codons in cdna seq = 404 agg cat start g-g end c-a ag- -at frameshift deletion length of cdnaseq after deletion = 1195 ter codon is taa at posn 56 Protein length after deletion = 55 Total no. of codons in del cdnaseq = 399 last codon in array is a gat (D) gta (V) gta (V) agg (R) cat (H) aaa (K) aac (N) cat (H) tac (Y) gat (D) gta (V) gta (V) aga (R) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aga (R) taa (TER) wild type sequence in deletion region: agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) wt frameshift deln region length = 7 matching aa in delstart region of wt and deletion mutant: agg (R) aga (R) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 1 55 R 56 * 2 F R 1 endometrium PTEN c.165_181del17 p.R55fs*2 endometrium PTEN 1 c.166_166delT p.L57fs*42 length of cdnaseq = 1212 length of protseq = 403 166 166 T 1 56 1 56 1 t Total no. of codons in cdna seq = 404 ttt ttt prev g start g-t end t-t --- -tt frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 404 last codon in array is ga gta (V) gta (V) agg (R) ttt (F) ttt (F) ttg (L) gat (D) tca (S) aag (K) gta (V) gta (V) agg (R) ttt (F) tgg (W) att (I) caa (Q) original frameshift length = 43 frameshift length = 43 frameshifted sequence: ttt (F) tgg (W) att (I) caa (Q) agc (S) ata (I) aaa (K) acc (T) att (I) aca (T) aga (R) tat (Y) aca (T) atc (I) ttt (F) gtg (V) ctg (L) aaa (K) gac (D) att (I) atg (M) aca (T) ccg (P) cca (P) aat (N) tta (L) att (I) gca (A) gag (E) ttg (L) cac (H) aat (N) atc (I) ctt (L) ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttt (F) ttt (F) first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 42 57 L 98 * 42 endometrium PTEN 1 c.187delA p.N63fs*36 length of cdnaseq = 1212 length of protseq = 403 187 187 A 1 63 1 63 1 a Total no. of codons in cdna seq = 404 aac aac prev a start a-a end a-a --- -ac frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 404 last codon in array is ga aag (K) cat (H) aaa (K) aac (N) aac (N) cat (H) tac (Y) aag (K) ata (I) aag (K) cat (H) aaa (K) acc (T) att (I) aca (T) aga (R) original frameshift length = 36 frameshift length = 36 frameshifted sequence: acc (T) att (I) aca (T) aga (R) tat (Y) aca (T) atc (I) ttt (F) gtg (V) ctg (L) aaa (K) gac (D) att (I) atg (M) aca (T) ccg (P) cca (P) aat (N) tta (L) att (I) gca (A) gag (E) ttg (L) cac (H) aat (N) atc (I) ctt (L) ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 36 63 N 98 * 36 endometrium PTEN 1 c.190_191delCA p.H64fs*9 length of cdnaseq = 1212 length of protseq = 403 190 191 CA 2 64 1 64 2 ca Total no. of codons in cdna seq = 404 cat cat prev c start c-c end a-t --- --t frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 72 Protein length after deletion = 71 Total no. of codons in del cdnaseq = 404 last codon in array is a cat (H) aaa (K) aac (N) cat (H) cat (H) tac (Y) aag (K) ata (I) tac (Y) cat (H) aaa (K) aac (N) tta (L) caa (Q) gat (D) ata (I) original frameshift length = 9 frameshift length = 9 frameshifted sequence: tta (L) caa (Q) gat (D) ata (I) caa (Q) tct (S) ttg (L) tgc (C) tga (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 9 64 H 72 * 9 endometrium PTEN 1 c.19_20delGA p.E7fs*3 length of cdnaseq = 1212 length of protseq = 403 19 20 GA 2 7 1 7 2 ga Total no. of codons in cdna seq = 404 gag gag prev a start a-g end a-g --- --g frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 9 Protein length after deletion = 8 Total no. of codons in del cdnaseq = 404 last codon in array is a atc (I) atc (I) aaa (K) gag (E) gag (E) atc (I) gtt (V) agc (S) aga (R) atc (I) atc (I) aaa (K) gat (D) cgt (R) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gat (D) cgt (R) tag (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 3 7 E 9 * 3 endometrium PTEN 1 c.202_203delTA p.Y68fs*5 length of cdnaseq = 1212 length of protseq = 403 202 203 TA 2 68 1 68 2 ta Total no. of codons in cdna seq = 404 tac tac prev a start a-t end a-c --- --c frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 72 Protein length after deletion = 71 Total no. of codons in del cdnaseq = 404 last codon in array is a tac (Y) aag (K) ata (I) tac (Y) tac (Y) aat (N) ctt (L) tgt (C) gct (A) tac (Y) aag (K) ata (I) caa (Q) tct (S) ttg (L) tgc (C) original frameshift length = 5 frameshift length = 5 frameshifted sequence: caa (Q) tct (S) ttg (L) tgc (C) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 5 68 Y 72 * 5 endometrium PTEN 1 c.206delA p.N69fs*30 length of cdnaseq = 1212 length of protseq = 403 206 206 A 1 69 2 69 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 404 last codon in array is ga aag (K) ata (I) tac (Y) aat (N) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aag (K) ata (I) tac (Y) atc (I) ttt (F) gtg (V) ctg (L) original frameshift length = 30 frameshift length = 30 frameshifted sequence: atc (I) ttt (F) gtg (V) ctg (L) aaa (K) gac (D) att (I) atg (M) aca (T) ccg (P) cca (P) aat (N) tta (L) att (I) gca (A) gag (E) ttg (L) cac (H) aat (N) atc (I) ctt (L) ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 30 69 N 98 * 30 endometrium PTEN 1 c.213_256del44 p.C71fs*6 length of cdnaseq = 1212 length of protseq = 403 213 256 44 44 71 3 86 1 tgctgaaagacattatgacaccgccaaatttaattgcagagttg Total no. of codons in cdna seq = 404 tgt gca start g-t end g-c tg- -ca frameshift deletion length of cdnaseq after deletion = 1168 ter codon is tga at posn 76 Protein length after deletion = 75 Total no. of codons in del cdnaseq = 390 last codon in array is a tac (Y) aat (N) ctt (L) tgt (C) gca (A) caa (Q) tat (Y) cct (P) ttt (F) tac (Y) aat (N) ctt (L) tgc (C) aca (T) ata (I) tcc (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tgc (C) aca (T) ata (I) tcc (S) ttt (F) tga (TER) wild type sequence in deletion region: tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) wt frameshift deln region length = 16 matching aa in delstart region of wt and deletion mutant: tgt (C) tgc (C) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 5 71 C 76 * 6 A C 1 endometrium PTEN c.213_256del44 p.C71fs*6 endometrium PTEN 1 c.219_220delAA p.E73fs*4 length of cdnaseq = 1212 length of protseq = 403 219 220 AA 2 73 3 74 1 aa Total no. of codons in cdna seq = 404 gaa aga start a-a end a-g ga- -ga frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 76 Protein length after deletion = 75 Total no. of codons in del cdnaseq = 404 last codon in array is a ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) ctt (L) tgt (C) gct (A) gag (E) aca (T) tta (L) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gag (E) aca (T) tta (L) tga (TER) wild type sequence in deletion region: gaa (E) aga (R) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gaa (E) gag (E) first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 3 73 E 76 * 4 R E 1 endometrium PTEN c.219_220delAA p.E73fs*4 endometrium PTEN 1 c.219_222delAAGA p.E73fs*25 length of cdnaseq = 1212 length of protseq = 403 219 222 AAGA 4 73 3 74 3 aaga Total no. of codons in cdna seq = 404 gaa aga start a-a post c end a-c ga- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tag at posn 97 Protein length after deletion = 96 Total no. of codons in del cdnaseq = 403 last codon in array is ga ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) ctt (L) tgt (C) gct (A) gac (D) att (I) atg (M) aca (T) original frameshift length = 25 frameshift length = 25 frameshifted sequence: gac (D) att (I) atg (M) aca (T) ccg (P) cca (P) aat (N) tta (L) att (I) gca (A) gag (E) ttg (L) cac (H) aat (N) atc (I) ctt (L) ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: gaa (E) aga (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 25 73 E 97 * 25 endometrium PTEN 1 c.244_247delAATT p.N82fs*16 length of cdnaseq = 1212 length of protseq = 403 244 247 AATT 4 82 1 83 1 aatt Total no. of codons in cdna seq = 404 aat tgc prev t start t-a end t-g --- -gc frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tag at posn 97 Protein length after deletion = 96 Total no. of codons in del cdnaseq = 403 last codon in array is ga gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) gcc (A) aaa (K) ttt (F) gca (A) gag (E) ttg (L) cac (H) original frameshift length = 16 frameshift length = 16 frameshifted sequence: gca (A) gag (E) ttg (L) cac (H) aat (N) atc (I) ctt (L) ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: aat (N) tgc (C) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 16 82 N 97 * 16 endometrium PTEN 1 c.270delT p.F90fs*9 length of cdnaseq = 1212 length of protseq = 403 270 270 T 1 90 3 90 3 t Total no. of codons in cdna seq = 404 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 404 last codon in array is ga caa (Q) tat (Y) cct (P) ttt (F) ttt (F) gaa (E) gac (D) cat (H) aac (N) caa (Q) tat (Y) cct (P) ttg (L) aag (K) acc (T) ata (I) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 9 90 F 98 * 9 endometrium PTEN 1 c.279_304del26 p.H93fs*5 length of cdnaseq = 1212 length of protseq = 403 279 304 26 26 93 3 102 1 taacccaccacagctagaacttatca Total no. of codons in cdna seq = 404 cat aaa start a-t end a-a ca- -aa frameshift deletion length of cdnaseq after deletion = 1186 ter codon is tga at posn 97 Protein length after deletion = 96 Total no. of codons in del cdnaseq = 396 last codon in array is a ttt (F) gaa (E) gac (D) cat (H) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) ttt (F) gaa (E) gac (D) caa (Q) acc (T) ctt (L) ttg (L) original frameshift length = 5 frameshift length = 5 frameshifted sequence: caa (Q) acc (T) ctt (L) ttg (L) tga (TER) wild type sequence in deletion region: cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) wt frameshift deln region length = 10 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 5 93 H 97 * 5 endometrium PTEN 1 c.309_319del11 p.P103fs*3 length of cdnaseq = 1212 length of protseq = 403 309 319 11 11 103 3 107 1 cttttgtgaag Total no. of codons in cdna seq = 404 ccc gat start c-c end g-a cc- -at frameshift deletion length of cdnaseq after deletion = 1201 ter codon is tga at posn 105 Protein length after deletion = 104 Total no. of codons in del cdnaseq = 401 last codon in array is a ctt (L) atc (I) aaa (K) ccc (P) gat (D) ctt (L) gac (D) caa (Q) tgg (W) ctt (L) atc (I) aaa (K) cca (P) tct (S) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cca (P) tct (S) tga (TER) wild type sequence in deletion region: ccc (P) ttt (F) tgt (C) gaa (E) gat (D) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 2 103 P 105 * 3 F P 1 endometrium PTEN c.309_319del11 p.P103fs*3 endometrium PTEN 1 c.336_340delAAGTG p.L112fs*3 length of cdnaseq = 1212 length of protseq = 403 336 340 AAGTG 5 112 3 114 1 aagtg Total no. of codons in cdna seq = 404 cta gaa start t-a end g-a ct- -aa frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 114 Protein length after deletion = 113 Total no. of codons in del cdnaseq = 403 last codon in array is a gac (D) caa (Q) tgg (W) cta (L) gaa (E) gat (D) gac (D) aat (N) cat (H) gac (D) caa (Q) tgg (W) cta (L) aga (R) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cta (L) aga (R) tga (TER) wild type sequence in deletion region: cta (L) agt (S) gaa (E) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: cta (L) cta (L) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 2 112 L 114 * 3 S L 1 endometrium PTEN c.336_340delAAGTG p.L112fs*3 endometrium PTEN 1 c.338_341delGTGA p.S113fs*20 length of cdnaseq = 1212 length of protseq = 403 338 341 GTGA 4 113 2 114 2 gtga Total no. of codons in cdna seq = 404 agt gaa start a-g end a-a a-- --a frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 132 Protein length after deletion = 131 Total no. of codons in del cdnaseq = 403 last codon in array is ga caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) caa (Q) tgg (W) cta (L) aag (K) atg (M) aca (T) atc (I) original frameshift length = 20 frameshift length = 20 frameshifted sequence: aag (K) atg (M) aca (T) atc (I) atg (M) ttg (L) cag (Q) caa (Q) ttc (F) act (T) gta (V) aag (K) ctg (L) gaa (E) agg (R) gac (D) gaa (E) ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: agt (S) gaa (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 20 113 S 132 * 20 endometrium PTEN 1 c.344_344delA p.D115fs*19 length of cdnaseq = 1212 length of protseq = 403 344 344 A 1 115 2 115 2 a Total no. of codons in cdna seq = 404 gat gat start g-a end a-t g-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 404 last codon in array is ga cta (L) agt (S) gaa (E) gat (D) gat (D) gac (D) aat (N) cat (H) gtt (V) cta (L) agt (S) gaa (E) gtg (V) aca (T) atc (I) atg (M) original frameshift length = 19 frameshift length = 19 frameshifted sequence: gtg (V) aca (T) atc (I) atg (M) ttg (L) cag (Q) caa (Q) ttc (F) act (T) gta (V) aag (K) ctg (L) gaa (E) agg (R) gac (D) gaa (E) ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 19 115 D 133 * 19 endometrium PTEN 1 c.355_355delG p.V119fs*15 length of cdnaseq = 1212 length of protseq = 403 355 355 G 1 119 1 119 1 g Total no. of codons in cdna seq = 404 gtt gtt prev t start t-g end g-t --- -tt frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 404 last codon in array is ga gac (D) aat (N) cat (H) gtt (V) gtt (V) gca (A) gca (A) att (I) cac (H) gac (D) aat (N) cat (H) ttg (L) cag (Q) caa (Q) ttc (F) original frameshift length = 15 frameshift length = 15 frameshifted sequence: ttg (L) cag (Q) caa (Q) ttc (F) act (T) gta (V) aag (K) ctg (L) gaa (E) agg (R) gac (D) gaa (E) ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 15 119 V 133 * 15 endometrium PTEN 1 c.362_363delCA p.A121fs*4 length of cdnaseq = 1212 length of protseq = 403 362 363 CA 2 121 2 121 3 ca Total no. of codons in cdna seq = 404 gca gca start g-c post a end a-a g-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is taa at posn 124 Protein length after deletion = 123 Total no. of codons in del cdnaseq = 404 last codon in array is a cat (H) gtt (V) gca (A) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) cat (H) gtt (V) gca (A) gat (D) tca (S) ctg (L) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gat (D) tca (S) ctg (L) taa (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 4 121 A 124 * 4 endometrium PTEN 1 c.382_395del14 p.K128fs*47 length of cdnaseq = 1212 length of protseq = 403 382 395 14 14 128 1 132 2 aagggacgaactgg Total no. of codons in cdna seq = 404 aag ggt prev a start a-a end g-t --- --t frameshift deletion length of cdnaseq after deletion = 1198 ter codon is tag at posn 174 Protein length after deletion = 173 Total no. of codons in del cdnaseq = 400 last codon in array is a aaa (K) gct (A) gga (G) aag (K) ggt (G) gta (V) atg (M) ata (I) tgt (C) aaa (K) gct (A) gga (G) tgt (C) aat (N) gat (D) atg (M) original frameshift length = 47 frameshift length = 47 frameshifted sequence: tgt (C) aat (N) gat (D) atg (M) tgc (C) ata (I) ttt (F) att (I) aca (T) tcg (S) ggg (G) caa (Q) att (I) ttt (F) aaa (K) ggc (G) aca (T) aga (R) ggc (G) cct (P) aga (R) ttt (F) cta (L) tgg (W) gga (G) agt (S) aag (K) gac (D) cag (Q) aga (R) caa (Q) aaa (K) ggg (G) agt (S) aac (N) tat (Y) tcc (S) cag (Q) tca (S) gag (E) gcg (A) cta (L) tgt (C) gta (V) tta (L) tta (L) tag (TER) wild type sequence in deletion region: aag (K) gga (G) cga (R) act (T) ggt (G) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 47 128 K 174 * 47 endometrium PTEN 1 c.387delA p.G129fs*5 length of cdnaseq = 1212 length of protseq = 403 387 387 A 1 129 3 129 3 a Total no. of codons in cdna seq = 404 gga gga start g-a post c end a-c gg- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 404 last codon in array is ga gct (A) gga (G) aag (K) gga (G) gga (G) cga (R) act (T) ggt (G) gta (V) gct (A) gga (G) aag (K) ggc (G) gaa (E) ctg (L) gtg (V) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ggc (G) gaa (E) ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gga (G) ggc (G) first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 4 129 G 133 * 5 R G 1 endometrium PTEN c.387delA p.G129fs*5 endometrium PTEN 1 c.389_395delGAACTGG p.R130fs*2 length of cdnaseq = 1212 length of protseq = 403 389 395 GAACTGG 7 130 2 132 2 gaactgg Total no. of codons in cdna seq = 404 cga ggt start c-g end g-t c-- --t frameshift deletion length of cdnaseq after deletion = 1205 ter codon is taa at posn 131 Protein length after deletion = 130 Total no. of codons in del cdnaseq = 402 last codon in array is ga gga (G) aag (K) gga (G) cga (R) ggt (G) gta (V) atg (M) ata (I) tgt (C) gga (G) aag (K) gga (G) ctg (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctg (L) taa (TER) wild type sequence in deletion region: cga (R) act (T) ggt (G) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 2 130 R 131 * 2 endometrium PTEN 1 c.392_411del20 p.T131fs*42 length of cdnaseq = 1212 length of protseq = 403 392 411 20 20 131 2 137 3 ctggtgtaatgatatgtgca Total no. of codons in cdna seq = 404 act gca start a-c post t end a-t a-- --- frameshift deletion length of cdnaseq after deletion = 1192 ter codon is tag at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 398 last codon in array is a aag (K) gga (G) cga (R) act (T) gca (A) tat (Y) tta (L) tta (L) cat (H) aag (K) gga (G) cga (R) ata (I) ttt (F) att (I) aca (T) original frameshift length = 42 frameshift length = 42 frameshifted sequence: ata (I) ttt (F) att (I) aca (T) tcg (S) ggg (G) caa (Q) att (I) ttt (F) aaa (K) ggc (G) aca (T) aga (R) ggc (G) cct (P) aga (R) ttt (F) cta (L) tgg (W) gga (G) agt (S) aag (K) gac (D) cag (Q) aga (R) caa (Q) aaa (K) ggg (G) agt (S) aac (N) tat (Y) tcc (S) cag (Q) tca (S) gag (E) gcg (A) cta (L) tgt (C) gta (V) tta (L) tta (L) tag (TER) wild type sequence in deletion region: act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 42 131 T 172 * 42 endometrium PTEN 1 c.396delT p.G132fs*2 length of cdnaseq = 1212 length of protseq = 403 396 396 T 1 132 3 132 3 t Total no. of codons in cdna seq = 404 ggt ggt start g-t post g end t-g gg- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 404 last codon in array is ga gga (G) cga (R) act (T) ggt (G) ggt (G) gta (V) atg (M) ata (I) tgt (C) gga (G) cga (R) act (T) ggg (G) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ggg (G) taa (TER) wild type sequence in deletion region: ggt (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggt (G) ggg (G) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 132 G 133 * 2 V G 1 endometrium PTEN c.396delT p.G132fs*2 endometrium PTEN 1 c.405_423del19 p.I135fs*6 length of cdnaseq = 1212 length of protseq = 403 405 423 19 19 135 3 141 3 atgtgcatatttattacat Total no. of codons in cdna seq = 404 ata cat start t-a post c end t-c at- --- frameshift deletion length of cdnaseq after deletion = 1193 ter codon is taa at posn 140 Protein length after deletion = 139 Total no. of codons in del cdnaseq = 398 last codon in array is ga ggt (G) gta (V) atg (M) ata (I) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) ggt (G) gta (V) atg (M) atc (I) ggg (G) gca (A) aat (N) original frameshift length = 6 frameshift length = 6 frameshifted sequence: atc (I) ggg (G) gca (A) aat (N) ttt (F) taa (TER) wild type sequence in deletion region: ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) wt frameshift deln region length = 7 matching aa in delstart region of wt and deletion mutant: ata (I) atc (I) first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 5 135 I 140 * 6 C I 1 endometrium PTEN c.405_423del19 p.I135fs*6 endometrium PTEN 1 c.40delA p.R14fs*10 length of cdnaseq = 1212 length of protseq = 403 40 40 A 1 14 1 14 1 a Total no. of codons in cdna seq = 404 agg agg prev a start a-a end a-g --- -gg frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 23 Protein length after deletion = 22 Total no. of codons in del cdnaseq = 404 last codon in array is ga aga (R) aac (N) aaa (K) agg (R) agg (R) aga (R) tat (Y) caa (Q) gag (E) aga (R) aac (N) aaa (K) gga (G) gat (D) atc (I) aag (K) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gga (G) gat (D) atc (I) aag (K) agg (R) atg (M) gat (D) tcg (S) act (T) tag (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 10 14 R 23 * 10 endometrium PTEN 1 c.410_414delCATAT p.A137fs*41 length of cdnaseq = 1212 length of protseq = 403 410 414 CATAT 5 137 2 138 3 catat Total no. of codons in cdna seq = 404 gca tat start g-c post t end t-t g-- --- frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tag at posn 177 Protein length after deletion = 176 Total no. of codons in del cdnaseq = 403 last codon in array is a atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) atg (M) ata (I) tgt (C) gtt (V) att (I) aca (T) tcg (S) original frameshift length = 41 frameshift length = 41 frameshifted sequence: gtt (V) att (I) aca (T) tcg (S) ggg (G) caa (Q) att (I) ttt (F) aaa (K) ggc (G) aca (T) aga (R) ggc (G) cct (P) aga (R) ttt (F) cta (L) tgg (W) gga (G) agt (S) aag (K) gac (D) cag (Q) aga (R) caa (Q) aaa (K) ggg (G) agt (S) aac (N) tat (Y) tcc (S) cag (Q) tca (S) gag (E) gcg (A) cta (L) tgt (C) gta (V) tta (L) tta (L) tag (TER) wild type sequence in deletion region: gca (A) tat (Y) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 41 137 A 177 * 41 endometrium PTEN 1 c.415_416delTT p.L139fs*40 length of cdnaseq = 1212 length of protseq = 403 415 416 TT 2 139 1 139 2 tt Total no. of codons in cdna seq = 404 tta tta prev t start t-t end t-a --- --a frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 178 Protein length after deletion = 177 Total no. of codons in del cdnaseq = 404 last codon in array is a tgt (C) gca (A) tat (Y) tta (L) tta (L) tta (L) cat (H) cgg (R) ggc (G) tgt (C) gca (A) tat (Y) att (I) aca (T) tcg (S) ggg (G) original frameshift length = 40 frameshift length = 40 frameshifted sequence: att (I) aca (T) tcg (S) ggg (G) caa (Q) att (I) ttt (F) aaa (K) ggc (G) aca (T) aga (R) ggc (G) cct (P) aga (R) ttt (F) cta (L) tgg (W) gga (G) agt (S) aag (K) gac (D) cag (Q) aga (R) caa (Q) aaa (K) ggg (G) agt (S) aac (N) tat (Y) tcc (S) cag (Q) tca (S) gag (E) gcg (A) cta (L) tgt (C) gta (V) tta (L) tta (L) tag (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 40 139 L 178 * 40 endometrium PTEN 1 c.428_428delG p.G143fs*4 length of cdnaseq = 1212 length of protseq = 403 428 428 G 1 143 2 143 2 g Total no. of codons in cdna seq = 404 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 146 Protein length after deletion = 145 Total no. of codons in del cdnaseq = 404 last codon in array is ga tta (L) cat (H) cgg (R) ggc (G) ggc (G) aaa (K) ttt (F) tta (L) aag (K) tta (L) cat (H) cgg (R) gca (A) aat (N) ttt (F) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gca (A) aat (N) ttt (F) taa (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 4 143 G 146 * 4 endometrium PTEN 1 c.437delT p.L146fs*1 length of cdnaseq = 1212 length of protseq = 403 437 437 T 1 146 2 146 2 t Total no. of codons in cdna seq = 404 tta tta start t-t end t-a t-- --a frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 146 Protein length after deletion = 145 Total no. of codons in del cdnaseq = 404 last codon in array is ga ggc (G) aaa (K) ttt (F) tta (L) tta (L) aag (K) gca (A) caa (Q) gag (E) ggc (G) aaa (K) ttt (F) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 1 146 L 146 * 1 endometrium PTEN 1 c.441_444delGGCA p.K147fs*5 length of cdnaseq = 1212 length of protseq = 403 441 444 GGCA 4 147 3 148 3 ggca Total no. of codons in cdna seq = 404 aag gca start a-g post c end a-c aa- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tag at posn 151 Protein length after deletion = 150 Total no. of codons in del cdnaseq = 403 last codon in array is ga aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) aaa (K) ttt (F) tta (L) aac (N) aag (K) agg (R) ccc (P) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aac (N) aag (K) agg (R) ccc (P) tag (TER) wild type sequence in deletion region: aag (K) gca (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 5 147 K 151 * 5 endometrium PTEN 1 c.46_65del20 p.Y16fs*21 length of cdnaseq = 1212 length of protseq = 403 46 65 20 20 16 1 22 2 tatcaagaggatggattcga Total no. of codons in cdna seq = 404 tat gac prev a start a-t end a-c --- --c frameshift deletion length of cdnaseq after deletion = 1192 ter codon is tga at posn 36 Protein length after deletion = 35 Total no. of codons in del cdnaseq = 398 last codon in array is a aaa (K) agg (R) aga (R) tat (Y) gac (D) tta (L) gac (D) ttg (L) acc (T) aaa (K) agg (R) aga (R) ctt (L) aga (R) ctt (L) gac (D) original frameshift length = 21 frameshift length = 21 frameshifted sequence: ctt (L) aga (R) ctt (L) gac (D) cta (L) tat (Y) tta (L) tcc (S) aaa (K) cat (H) tat (Y) tgc (C) tat (Y) ggg (G) att (I) tcc (S) tgc (C) aga (R) aag (K) act (T) tga (TER) wild type sequence in deletion region: tat (Y) caa (Q) gag (E) gat (D) gga (G) ttc (F) gac (D) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 21 16 Y 36 * 21 endometrium PTEN 1 c.48_49delTC p.Y16fs*1 length of cdnaseq = 1212 length of protseq = 403 48 49 TC 2 16 3 17 1 tc Total no. of codons in cdna seq = 404 tat caa start a-t end c-a ta- -aa frameshift deletion length of cdnaseq after deletion = 1210 ter codon is taa at posn 16 Protein length after deletion = 15 Total no. of codons in del cdnaseq = 404 last codon in array is a aaa (K) agg (R) aga (R) tat (Y) caa (Q) gag (E) gat (D) gga (G) ttc (F) aaa (K) agg (R) aga (R) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tat (Y) caa (Q) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 16 Y 16 * 1 endometrium PTEN 1 c.519_520delCT p.Y174fs*5 length of cdnaseq = 1212 length of protseq = 403 519 520 CT 2 173 3 174 1 ct Total no. of codons in cdna seq = 404 cgc tat start g-c end t-a cg- -at frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 178 Protein length after deletion = 177 Total no. of codons in del cdnaseq = 404 last codon in array is a agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agt (S) cag (Q) agg (R) cga (R) tgt (C) gta (V) tta (L) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cga (R) tgt (C) gta (V) tta (L) tta (L) tag (TER) wild type sequence in deletion region: cgc (R) tat (Y) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cgc (R) cga (R) first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 5 174 Y 178 * 5 endometrium PTEN 1 c.530_534delATTAT p.Y177fs*1 length of cdnaseq = 1212 length of protseq = 403 530 534 ATTAT 5 177 2 178 3 attat Total no. of codons in cdna seq = 404 tat tat start t-a post a end t-a t-- --- frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tag at posn 177 Protein length after deletion = 176 Total no. of codons in del cdnaseq = 403 last codon in array is a tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) tat (Y) gtg (V) tat (Y) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tat (Y) tat (Y) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 177 Y 177 * 1 endometrium PTEN 1 c.532_532delT p.Y178fs*5 length of cdnaseq = 1212 length of protseq = 403 532 532 T 1 178 1 178 1 t Total no. of codons in cdna seq = 404 tat tat prev t start t-t end t-a --- -at frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 182 Protein length after deletion = 181 Total no. of codons in del cdnaseq = 404 last codon in array is ga gtg (V) tat (Y) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) gtg (V) tat (Y) tat (Y) ata (I) gct (A) acc (T) tgt (C) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ata (I) gct (A) acc (T) tgt (C) taa (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 5 178 Y 182 * 5 endometrium PTEN 1 c.537_540delCTAC p.S179fs*3 length of cdnaseq = 1212 length of protseq = 403 537 540 CTAC 4 179 3 180 3 ctac Total no. of codons in cdna seq = 404 agc tac start g-c post c end c-c ag- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 181 Protein length after deletion = 180 Total no. of codons in del cdnaseq = 403 last codon in array is ga tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) tat (Y) tat (Y) tat (Y) agc (S) tgt (C) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: agc (S) tgt (C) taa (TER) wild type sequence in deletion region: agc (S) tac (Y) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: agc (S) agc (S) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 2 179 S 181 * 3 Y S 1 endometrium PTEN c.537_540delCTAC p.S179fs*3 endometrium PTEN 1 c.54_57delGGAT p.E18fs*5 length of cdnaseq = 1212 length of protseq = 403 54 57 GGAT 4 18 3 19 3 ggat Total no. of codons in cdna seq = 404 gag gat start a-g post g end t-g ga- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tag at posn 22 Protein length after deletion = 21 Total no. of codons in del cdnaseq = 403 last codon in array is ga aga (R) tat (Y) caa (Q) gag (E) gat (D) gga (G) ttc (F) gac (D) tta (L) aga (R) tat (Y) caa (Q) gag (E) gat (D) tcg (S) act (T) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gag (E) gat (D) tcg (S) act (T) tag (TER) wild type sequence in deletion region: gag (E) gat (D) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) matching aa in delstart region of wt and deletion mutant: gat (D) gat (D) first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 3 18 E 22 * 5 G E 1 endometrium PTEN c.54_57delGGAT p.E18fs*5 endometrium PTEN 1 c.559delG p.D187fs*12 length of cdnaseq = 1212 length of protseq = 403 559 559 G 1 187 1 187 1 g Total no. of codons in cdna seq = 404 gat gat prev g start g-g end g-a --- -at frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 198 Protein length after deletion = 197 Total no. of codons in del cdnaseq = 404 last codon in array is ga aat (N) cat (H) ctg (L) gat (D) gat (D) tat (Y) aga (R) cca (P) gtg (V) aat (N) cat (H) ctg (L) att (I) ata (I) gac (D) cag (Q) original frameshift length = 12 frameshift length = 12 frameshifted sequence: att (I) ata (I) gac (D) cag (Q) tgg (W) cac (H) tgt (C) tgt (C) ttc (F) aca (T) aga (R) tga (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 12 187 D 198 * 12 endometrium PTEN 1 c.568_572delCCAGT p.P190fs*10 length of cdnaseq = 1212 length of protseq = 403 568 572 CCAGT 5 190 1 191 2 ccagt Total no. of codons in cdna seq = 404 cca gtg prev a start a-c end t-g --- --g frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 199 Protein length after deletion = 198 Total no. of codons in del cdnaseq = 403 last codon in array is a gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) gat (D) tat (Y) aga (R) ggc (G) act (T) gtt (V) gtt (V) original frameshift length = 10 frameshift length = 10 frameshifted sequence: ggc (G) act (T) gtt (V) gtt (V) tca (S) caa (Q) gat (D) gat (D) gtt (V) tga (TER) wild type sequence in deletion region: cca (P) gtg (V) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 10 190 P 199 * 10 endometrium PTEN 1 c.572_572delT p.V191fs*8 length of cdnaseq = 1212 length of protseq = 403 572 572 T 1 191 2 191 2 t Total no. of codons in cdna seq = 404 gtg gtg start g-t end t-g g-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 198 Protein length after deletion = 197 Total no. of codons in del cdnaseq = 404 last codon in array is ga tat (Y) aga (R) cca (P) gtg (V) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) tat (Y) aga (R) cca (P) ggg (G) cac (H) tgt (C) tgt (C) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ggg (G) cac (H) tgt (C) tgt (C) ttc (F) aca (T) aga (R) tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 8 191 V 198 * 8 endometrium PTEN 1 c.592delA p.M198fs*1 length of cdnaseq = 1212 length of protseq = 403 592 592 A 1 198 1 198 1 a Total no. of codons in cdna seq = 404 atg atg prev g start g-a end a-t --- -tg frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 198 Protein length after deletion = 197 Total no. of codons in del cdnaseq = 404 last codon in array is ga ttt (F) cac (H) aag (K) atg (M) atg (M) atg (M) ttt (F) gaa (E) act (T) ttt (F) cac (H) aag (K) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 1 198 M 198 * 1 endometrium PTEN 1 c.594delG p.M198fs*23 length of cdnaseq = 1212 length of protseq = 403 594 594 G 1 198 3 198 3 g Total no. of codons in cdna seq = 404 atg atg start t-g post a end g-a at- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 220 Protein length after deletion = 219 Total no. of codons in del cdnaseq = 404 last codon in array is ga ttt (F) cac (H) aag (K) atg (M) atg (M) atg (M) ttt (F) gaa (E) act (T) ttt (F) cac (H) aag (K) ata (I) tgt (C) ttg (L) aaa (K) original frameshift length = 23 frameshift length = 23 frameshifted sequence: ata (I) tgt (C) ttg (L) aaa (K) cta (L) ttc (F) caa (Q) tgt (C) tca (S) gtg (V) gcg (A) gaa (E) ctt (L) gca (A) atc (I) ctc (L) agt (S) ttg (L) tgg (W) tct (S) gcc (A) agc (S) taa (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 23 198 M 220 * 23 endometrium PTEN 1 c.598_599delTT p.F200fs*1 length of cdnaseq = 1212 length of protseq = 403 598 599 TT 2 200 1 200 2 tt Total no. of codons in cdna seq = 404 ttt ttt prev g start g-t end t-t --- --t frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 200 Protein length after deletion = 199 Total no. of codons in del cdnaseq = 404 last codon in array is a aag (K) atg (M) atg (M) ttt (F) ttt (F) gaa (E) act (T) att (I) cca (P) aag (K) atg (M) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 1 200 F 200 * 1 endometrium PTEN 1 c.60_60delA p.F21fs*3 length of cdnaseq = 1212 length of protseq = 403 60 60 A 1 20 3 20 3 a Total no. of codons in cdna seq = 404 gga gga start g-a post t end a-t gg- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 23 Protein length after deletion = 22 Total no. of codons in del cdnaseq = 404 last codon in array is ga caa (Q) gag (E) gat (D) gga (G) gga (G) ttc (F) gac (D) tta (L) gac (D) caa (Q) gag (E) gat (D) ggt (G) tcg (S) act (T) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: ggt (G) tcg (S) act (T) tag (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gga (G) ggt (G) first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 3 21 F 23 * 3 endometrium PTEN 1 c.635delA p.N212fs*9 length of cdnaseq = 1212 length of protseq = 403 635 635 A 1 212 2 212 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 220 Protein length after deletion = 219 Total no. of codons in del cdnaseq = 404 last codon in array is ga gga (G) act (T) tgc (C) aat (N) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gga (G) act (T) tgc (C) atc (I) ctc (L) agt (S) ttg (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: atc (I) ctc (L) agt (S) ttg (L) tgg (W) tct (S) gcc (A) agc (S) taa (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 9 212 N 220 * 9 endometrium PTEN 1 c.645_645delT p.F215fs*6 length of cdnaseq = 1212 length of protseq = 403 645 645 T 1 215 3 215 3 t Total no. of codons in cdna seq = 404 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 220 Protein length after deletion = 219 Total no. of codons in del cdnaseq = 404 last codon in array is ga aat (N) cct (P) cag (Q) ttt (F) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) aat (N) cct (P) cag (Q) ttg (L) tgg (W) tct (S) gcc (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ttg (L) tgg (W) tct (S) gcc (A) agc (S) taa (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 6 215 F 220 * 6 endometrium PTEN 1 c.662_662delA p.K221fs*2 length of cdnaseq = 1212 length of protseq = 403 662 662 A 1 221 2 221 2 a Total no. of codons in cdna seq = 404 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 222 Protein length after deletion = 221 Total no. of codons in del cdnaseq = 404 last codon in array is ga tgc (C) cag (Q) cta (L) aag (K) aag (K) gtg (V) aag (K) ata (I) tat (Y) tgc (C) cag (Q) cta (L) agg (R) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: agg (R) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 2 221 K 222 * 2 endometrium PTEN 1 c.667delA p.K223fs*33 length of cdnaseq = 1212 length of protseq = 403 667 667 A 1 223 1 223 1 a Total no. of codons in cdna seq = 404 aag aag prev g start g-a end a-a --- -ag frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 255 Protein length after deletion = 254 Total no. of codons in del cdnaseq = 404 last codon in array is ga cta (L) aag (K) gtg (V) aag (K) aag (K) ata (I) tat (Y) tcc (S) tcc (S) cta (L) aag (K) gtg (V) aga (R) tat (Y) att (I) cct (P) original frameshift length = 33 frameshift length = 33 frameshifted sequence: aga (R) tat (Y) att (I) cct (P) cca (P) att (I) cag (Q) gac (D) cca (P) cac (H) gac (D) ggg (G) aag (K) aca (T) agt (S) tca (S) tgt (C) act (T) ttg (L) agt (S) tcc (S) ctc (L) agc (S) cgt (R) tac (Y) ctg (L) tgt (C) gtg (V) gtg (V) ata (I) tca (S) aag (K) tag (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 33 223 K 255 * 33 endometrium PTEN 1 c.721_722delTT p.F241fs*1 length of cdnaseq = 1212 length of protseq = 403 721 722 TT 2 241 1 241 2 tt Total no. of codons in cdna seq = 404 ttt ttt prev c start c-t end t-t --- --t frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 241 Protein length after deletion = 240 Total no. of codons in del cdnaseq = 404 last codon in array is a ttc (F) atg (M) tac (Y) ttt (F) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ttc (F) atg (M) tac (Y) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 1 241 F 241 * 1 endometrium PTEN 1 c.723delT p.F241fs*15 length of cdnaseq = 1212 length of protseq = 403 723 723 T 1 241 3 241 3 t Total no. of codons in cdna seq = 404 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 255 Protein length after deletion = 254 Total no. of codons in del cdnaseq = 404 last codon in array is ga ttc (F) atg (M) tac (Y) ttt (F) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ttc (F) atg (M) tac (Y) ttg (L) agt (S) tcc (S) ctc (L) original frameshift length = 15 frameshift length = 15 frameshifted sequence: ttg (L) agt (S) tcc (S) ctc (L) agc (S) cgt (R) tac (Y) ctg (L) tgt (C) gtg (V) gtg (V) ata (I) tca (S) aag (K) tag (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 15 241 F 255 * 15 endometrium PTEN 1 c.727_739del13 p.F243fs*9 length of cdnaseq = 1212 length of protseq = 403 727 739 13 13 243 1 247 1 ttccctcagccgt Total no. of codons in cdna seq = 404 ttc tta prev g start g-t end t-t --- -ta frameshift deletion length of cdnaseq after deletion = 1199 ter codon is tag at posn 251 Protein length after deletion = 250 Total no. of codons in del cdnaseq = 400 last codon in array is ga tac (Y) ttt (F) gag (E) ttc (F) tta (L) cct (P) gtg (V) tgt (C) ggt (G) tac (Y) ttt (F) gag (E) tac (Y) ctg (L) tgt (C) gtg (V) original frameshift length = 9 frameshift length = 9 frameshifted sequence: tac (Y) ctg (L) tgt (C) gtg (V) gtg (V) ata (I) tca (S) aag (K) tag (TER) wild type sequence in deletion region: ttc (F) cct (P) cag (Q) ccg (P) tta (L) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 9 243 F 251 * 9 endometrium PTEN 1 c.728delT p.F243fs*13 length of cdnaseq = 1212 length of protseq = 403 728 728 T 1 243 2 243 2 t Total no. of codons in cdna seq = 404 ttc ttc start t-t end t-c t-- --c frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 255 Protein length after deletion = 254 Total no. of codons in del cdnaseq = 404 last codon in array is ga tac (Y) ttt (F) gag (E) ttc (F) ttc (F) cct (P) cag (Q) ccg (P) tta (L) tac (Y) ttt (F) gag (E) tcc (S) ctc (L) agc (S) cgt (R) original frameshift length = 13 frameshift length = 13 frameshifted sequence: tcc (S) ctc (L) agc (S) cgt (R) tac (Y) ctg (L) tgt (C) gtg (V) gtg (V) ata (I) tca (S) aag (K) tag (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 13 243 F 255 * 13 endometrium PTEN 1 c.738delG p.P246fs*10 length of cdnaseq = 1212 length of protseq = 403 738 738 G 1 246 3 246 3 g Total no. of codons in cdna seq = 404 ccg ccg start c-g post t end g-t cc- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 255 Protein length after deletion = 254 Total no. of codons in del cdnaseq = 404 last codon in array is ga ttc (F) cct (P) cag (Q) ccg (P) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ttc (F) cct (P) cag (Q) cct (P) tac (Y) ctg (L) tgt (C) original frameshift length = 10 frameshift length = 10 frameshifted sequence: cct (P) tac (Y) ctg (L) tgt (C) gtg (V) gtg (V) ata (I) tca (S) aag (K) tag (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccg (P) cct (P) first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 9 246 P 255 * 10 L P 1 endometrium PTEN c.738delG p.P246fs*10 endometrium PTEN 1 c.740_744delTACCT p.L247fs*4 length of cdnaseq = 1212 length of protseq = 403 740 744 TACCT 5 247 2 248 3 tacct Total no. of codons in cdna seq = 404 tta cct start t-t post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 250 Protein length after deletion = 249 Total no. of codons in del cdnaseq = 403 last codon in array is a cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) cct (P) cag (Q) ccg (P) tgt (C) gtg (V) tgg (W) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tgt (C) gtg (V) tgg (W) tga (TER) wild type sequence in deletion region: tta (L) cct (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 4 247 L 250 * 4 endometrium PTEN 1 c.75_78delGACC p.L25fs*28 length of cdnaseq = 1212 length of protseq = 403 75 78 GACC 4 25 3 26 3 gacc Total no. of codons in cdna seq = 404 ttg acc start t-g post t end c-t tt- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tag at posn 52 Protein length after deletion = 51 Total no. of codons in del cdnaseq = 403 last codon in array is ga gac (D) tta (L) gac (D) ttg (L) acc (T) tat (Y) att (I) tat (Y) cca (P) gac (D) tta (L) gac (D) ttt (F) ata (I) ttt (F) atc (I) original frameshift length = 28 frameshift length = 28 frameshifted sequence: ttt (F) ata (I) ttt (F) atc (I) caa (Q) aca (T) tta (L) ttg (L) cta (L) tgg (W) gat (D) ttc (F) ctg (L) cag (Q) aaa (K) gac (D) ttg (L) aag (K) gcg (A) tat (Y) aca (T) gga (G) aca (T) ata (I) ttg (L) atg (M) atg (M) tag (TER) wild type sequence in deletion region: ttg (L) acc (T) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 28 25 L 52 * 28 endometrium PTEN 1 c.762_775del14 p.K254fs*39 length of cdnaseq = 1212 length of protseq = 403 762 775 14 14 254 3 259 1 agtagagttcttcc Total no. of codons in cdna seq = 404 aaa cac start a-a end c-a aa- -ac frameshift deletion length of cdnaseq after deletion = 1198 ter codon is tga at posn 292 Protein length after deletion = 291 Total no. of codons in del cdnaseq = 400 last codon in array is a ggt (G) gat (D) atc (I) aaa (K) cac (H) aaa (K) cag (Q) aac (N) aag (K) ggt (G) gat (D) atc (I) aaa (K) caa (Q) aca (T) gaa (E) original frameshift length = 39 frameshift length = 39 frameshifted sequence: aaa (K) caa (Q) aca (T) gaa (E) caa (Q) gat (D) gct (A) aaa (K) aaa (K) gga (G) caa (Q) aat (N) gtt (V) tca (S) ctt (L) ttg (L) ggt (G) aaa (K) tac (Y) att (I) ctt (L) cat (H) acc (T) agg (R) acc (T) aga (R) gga (G) aac (N) ctc (L) aga (R) aaa (K) agt (S) aga (R) aaa (K) tgg (W) aag (K) tct (S) atg (M) tga (TER) wild type sequence in deletion region: aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 38 254 K 292 * 39 V K 1 endometrium PTEN c.762_775del14 p.K254fs*39 endometrium PTEN 1 c.773delT p.F258fs*8 length of cdnaseq = 1212 length of protseq = 403 773 773 T 1 258 2 258 2 t Total no. of codons in cdna seq = 404 ttc ttc start t-t end t-c t-- --c frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 265 Protein length after deletion = 264 Total no. of codons in del cdnaseq = 404 last codon in array is ga gta (V) gag (E) ttc (F) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) gta (V) gag (E) ttc (F) tcc (S) aca (T) aac (N) aga (R) original frameshift length = 8 frameshift length = 8 frameshifted sequence: tcc (S) aca (T) aac (N) aga (R) aca (T) aga (R) tgc (C) taa (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 8 258 F 265 * 8 endometrium PTEN 1 c.783_784delGA p.N262fs*35 length of cdnaseq = 1212 length of protseq = 403 783 784 GA 2 261 3 262 1 ga Total no. of codons in cdna seq = 404 cag aac start a-g end a-a ca- -ac frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 296 Protein length after deletion = 295 Total no. of codons in del cdnaseq = 404 last codon in array is a ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) ttc (F) cac (H) aaa (K) caa (Q) caa (Q) gat (D) gct (A) original frameshift length = 36 frameshift length = 36 frameshifted sequence: caa (Q) caa (Q) gat (D) gct (A) aaa (K) aaa (K) gga (G) caa (Q) aat (N) gtt (V) tca (S) ctt (L) ttg (L) ggt (G) aaa (K) tac (Y) att (I) ctt (L) cat (H) acc (T) agg (R) acc (T) aga (R) gga (G) aac (N) ctc (L) aga (R) aaa (K) agt (S) aga (R) aaa (K) tgg (W) aag (K) tct (S) atg (M) tga (TER) wild type sequence in deletion region: cag (Q) aac (N) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cag (Q) caa (Q) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 35 262 N 296 * 35 endometrium PTEN 1 c.78delC p.T26fs*28 length of cdnaseq = 1212 length of protseq = 403 78 78 C 1 26 3 26 3 c Total no. of codons in cdna seq = 404 acc acc start c-c post t end c-t ac- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 53 Protein length after deletion = 52 Total no. of codons in del cdnaseq = 404 last codon in array is ga tta (L) gac (D) ttg (L) acc (T) acc (T) tat (Y) att (I) tat (Y) cca (P) tta (L) gac (D) ttg (L) act (T) ata (I) ttt (F) atc (I) original frameshift length = 28 frameshift length = 28 frameshifted sequence: act (T) ata (I) ttt (F) atc (I) caa (Q) aca (T) tta (L) ttg (L) cta (L) tgg (W) gat (D) ttc (F) ctg (L) cag (Q) aaa (K) gac (D) ttg (L) aag (K) gcg (A) tat (Y) aca (T) gga (G) aca (T) ata (I) ttg (L) atg (M) atg (M) tag (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acc (T) act (T) first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 27 26 T 53 * 28 Y T 1 endometrium PTEN c.78delC p.T26fs*28 endometrium PTEN 1 c.792_804del13 p.M264fs*8 length of cdnaseq = 1212 length of protseq = 403 792 804 13 13 264 3 268 3 gctaaaaaaggac Total no. of codons in cdna seq = 404 atg gac start t-g post a end c-a at- --- frameshift deletion length of cdnaseq after deletion = 1199 ter codon is taa at posn 271 Protein length after deletion = 270 Total no. of codons in del cdnaseq = 400 last codon in array is ga cag (Q) aac (N) aag (K) atg (M) gac (D) aaa (K) atg (M) ttt (F) cac (H) cag (Q) aac (N) aag (K) ata (I) aaa (K) tgt (C) ttc (F) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ata (I) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: atg (M) cta (L) aaa (K) aag (K) gac (D) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 8 264 M 271 * 8 endometrium PTEN 1 c.799_800delAA p.K267fs*30 length of cdnaseq = 1212 length of protseq = 403 799 800 AA 2 267 1 267 2 aa Total no. of codons in cdna seq = 404 aag aag prev a start a-a end a-g --- --g frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 296 Protein length after deletion = 295 Total no. of codons in del cdnaseq = 404 last codon in array is a atg (M) cta (L) aaa (K) aag (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) atg (M) cta (L) aaa (K) gga (G) caa (Q) aat (N) gtt (V) original frameshift length = 30 frameshift length = 30 frameshifted sequence: gga (G) caa (Q) aat (N) gtt (V) tca (S) ctt (L) ttg (L) ggt (G) aaa (K) tac (Y) att (I) ctt (L) cat (H) acc (T) agg (R) acc (T) aga (R) gga (G) aac (N) ctc (L) aga (R) aaa (K) agt (S) aga (R) aaa (K) tgg (W) aag (K) tct (S) atg (M) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 30 267 K 296 * 30 endometrium PTEN 1 c.803delA p.D268fs*8 length of cdnaseq = 1212 length of protseq = 403 803 803 A 1 268 2 268 2 a Total no. of codons in cdna seq = 404 gac gac start g-a end a-c g-- --c frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga cta (L) aaa (K) aag (K) gac (D) gac (D) aaa (K) atg (M) ttt (F) cac (H) cta (L) aaa (K) aag (K) gca (A) aaa (K) tgt (C) ttc (F) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gca (A) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 8 268 D 275 * 8 endometrium PTEN 1 c.80_81delAT p.Y27fs*16 length of cdnaseq = 1212 length of protseq = 403 80 81 AT 2 27 2 27 3 at Total no. of codons in cdna seq = 404 tat tat start t-a post a end t-a t-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 42 Protein length after deletion = 41 Total no. of codons in del cdnaseq = 404 last codon in array is a gac (D) ttg (L) acc (T) tat (Y) tat (Y) att (I) tat (Y) cca (P) aac (N) gac (D) ttg (L) acc (T) tat (Y) tta (L) tcc (S) aaa (K) original frameshift length = 16 frameshift length = 16 frameshifted sequence: tat (Y) tta (L) tcc (S) aaa (K) cat (H) tat (Y) tgc (C) tat (Y) ggg (G) att (I) tcc (S) tgc (C) aga (R) aag (K) act (T) tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tat (Y) tat (Y) first wt aa affected by frameshift deletion is : att (I) final frameshift length = 15 27 Y 42 * 16 I Y 1 endometrium PTEN c.80_81delAT p.Y27fs*16 endometrium PTEN 1 c.80_90del11 p.Y27fs*1 length of cdnaseq = 1212 length of protseq = 403 80 90 11 11 27 2 30 3 atatttatcca Total no. of codons in cdna seq = 404 tat cca start t-a post a end a-a t-- --- frameshift deletion length of cdnaseq after deletion = 1201 ter codon is taa at posn 27 Protein length after deletion = 26 Total no. of codons in del cdnaseq = 401 last codon in array is a gac (D) ttg (L) acc (T) tat (Y) cca (P) aac (N) att (I) att (I) gct (A) gac (D) ttg (L) acc (T) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tat (Y) att (I) tat (Y) cca (P) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 27 Y 27 * 1 endometrium PTEN 1 c.813delT p.F271fs*5 length of cdnaseq = 1212 length of protseq = 403 813 813 T 1 271 3 271 3 t Total no. of codons in cdna seq = 404 ttt ttt start t-t post c end t-c tt- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga gac (D) aaa (K) atg (M) ttt (F) ttt (F) cac (H) ttt (F) tgg (W) gta (V) gac (D) aaa (K) atg (M) ttc (F) act (T) ttt (F) ggg (G) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttt (F) ttc (F) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 4 271 F 275 * 5 H F 1 endometrium PTEN c.813delT p.F271fs*5 endometrium PTEN 1 c.820delT p.W274fs*2 length of cdnaseq = 1212 length of protseq = 403 820 820 T 1 274 1 274 1 t Total no. of codons in cdna seq = 404 tgg tgg prev t start t-t end t-g --- -gg frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga ttt (F) cac (H) ttt (F) tgg (W) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttt (F) cac (H) ttt (F) ggg (G) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ggg (G) taa (TER) wild type sequence in deletion region: tgg (W) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 2 274 W 275 * 2 endometrium PTEN 1 c.827delA p.N276fs*15 length of cdnaseq = 1212 length of protseq = 403 827 827 A 1 276 2 276 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 290 Protein length after deletion = 289 Total no. of codons in del cdnaseq = 404 last codon in array is ga ttt (F) tgg (W) gta (V) aat (N) aat (N) aca (T) ttc (F) ttc (F) ata (I) ttt (F) tgg (W) gta (V) ata (I) cat (H) tct (S) tca (S) original frameshift length = 15 frameshift length = 15 frameshifted sequence: ata (I) cat (H) tct (S) tca (S) tac (Y) cag (Q) gac (D) cag (Q) agg (R) aaa (K) cct (P) cag (Q) aaa (K) aag (K) tag (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 15 276 N 290 * 15 endometrium PTEN 1 c.83_83delT p.Y29fs*25 length of cdnaseq = 1212 length of protseq = 403 83 83 T 1 28 2 28 2 t Total no. of codons in cdna seq = 404 att att start a-t end t-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 53 Protein length after deletion = 52 Total no. of codons in del cdnaseq = 404 last codon in array is ga ttg (L) acc (T) tat (Y) att (I) att (I) tat (Y) cca (P) aac (N) att (I) ttg (L) acc (T) tat (Y) att (I) atc (I) caa (Q) aca (T) original frameshift length = 26 frameshift length = 26 frameshifted sequence: att (I) atc (I) caa (Q) aca (T) tta (L) ttg (L) cta (L) tgg (W) gat (D) ttc (F) ctg (L) cag (Q) aaa (K) gac (D) ttg (L) aag (K) gcg (A) tat (Y) aca (T) gga (G) aca (T) ata (I) ttg (L) atg (M) atg (M) tag (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: att (I) att (I) first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 25 29 Y 53 * 25 endometrium PTEN 1 c.859_868del10 p.S287fs*1 length of cdnaseq = 1212 length of protseq = 403 859 868 10 10 287 1 290 1 tcagaaaaag Total no. of codons in cdna seq = 404 tca gta prev c start c-t end g-t --- -ta frameshift deletion length of cdnaseq after deletion = 1202 ter codon is tag at posn 287 Protein length after deletion = 286 Total no. of codons in del cdnaseq = 401 last codon in array is ga gag (E) gaa (E) acc (T) tca (S) gta (V) gaa (E) aat (N) gga (G) agt (S) gag (E) gaa (E) acc (T) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tca (S) gaa (E) aaa (K) gta (V) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 1 287 S 287 * 1 endometrium PTEN 1 c.860_867delCAGAAAAA p.S287fs*8 length of cdnaseq = 1212 length of protseq = 403 860 867 CAGAAAAA 8 287 2 289 3 cagaaaaa Total no. of codons in cdna seq = 404 tca aaa start t-c post g end a-g t-- --- frameshift deletion length of cdnaseq after deletion = 1204 ter codon is tga at posn 294 Protein length after deletion = 293 Total no. of codons in del cdnaseq = 402 last codon in array is a gag (E) gaa (E) acc (T) tca (S) aaa (K) gta (V) gaa (E) aat (N) gga (G) gag (E) gaa (E) acc (T) tgt (C) aga (R) aaa (K) tgg (W) original frameshift length = 8 frameshift length = 8 frameshifted sequence: tgt (C) aga (R) aaa (K) tgg (W) aag (K) tct (S) atg (M) tga (TER) wild type sequence in deletion region: tca (S) gaa (E) aaa (K) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 8 287 S 294 * 8 endometrium PTEN 1 c.862_863delGA p.E288fs*9 length of cdnaseq = 1212 length of protseq = 403 862 863 GA 2 288 1 288 2 ga Total no. of codons in cdna seq = 404 gaa gaa prev a start a-g end a-a --- --a frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 296 Protein length after deletion = 295 Total no. of codons in del cdnaseq = 404 last codon in array is a gaa (E) acc (T) tca (S) gaa (E) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gaa (E) acc (T) tca (S) aaa (K) agt (S) aga (R) aaa (K) original frameshift length = 9 frameshift length = 9 frameshifted sequence: aaa (K) agt (S) aga (R) aaa (K) tgg (W) aag (K) tct (S) atg (M) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 9 288 E 296 * 9 endometrium PTEN 1 c.864_868delAAAAG p.E288fs*8 length of cdnaseq = 1212 length of protseq = 403 864 868 AAAAG 5 288 3 290 1 aaaag Total no. of codons in cdna seq = 404 gaa gta start a-a end g-t ga- -ta frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 403 last codon in array is a gaa (E) acc (T) tca (S) gaa (E) gta (V) gaa (E) aat (N) gga (G) agt (S) gaa (E) acc (T) tca (S) gat (D) aga (R) aaa (K) tgg (W) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gat (D) aga (R) aaa (K) tgg (W) aag (K) tct (S) atg (M) tga (TER) wild type sequence in deletion region: gaa (E) aaa (K) gta (V) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 8 288 E 295 * 8 endometrium PTEN 1 c.864delA p.E288fs*3 length of cdnaseq = 1212 length of protseq = 403 864 864 A 1 288 3 288 3 a Total no. of codons in cdna seq = 404 gaa gaa start a-a post a end a-a ga- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 290 Protein length after deletion = 289 Total no. of codons in del cdnaseq = 404 last codon in array is ga gaa (E) acc (T) tca (S) gaa (E) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gaa (E) acc (T) tca (S) gaa (E) aag (K) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gaa (E) aag (K) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 288 E 290 * 3 V E 1 endometrium PTEN c.864delA p.E288fs*3 endometrium PTEN 1 c.875delA p.N292fs*15 length of cdnaseq = 1212 length of protseq = 403 875 875 A 1 292 2 292 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 306 Protein length after deletion = 305 Total no. of codons in del cdnaseq = 404 last codon in array is ga aaa (K) gta (V) gaa (E) aat (N) aat (N) gga (G) agt (S) cta (L) tgt (C) aaa (K) gta (V) gaa (E) atg (M) gaa (E) gtc (V) tat (Y) original frameshift length = 15 frameshift length = 15 frameshifted sequence: atg (M) gaa (E) gtc (V) tat (Y) gtg (V) atc (I) aag (K) aaa (K) tcg (S) ata (I) gca (A) ttt (F) gca (A) gta (V) tag (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 15 292 N 306 * 15 endometrium PTEN 1 c.878_878delG p.G293fs*14 length of cdnaseq = 1212 length of protseq = 403 878 878 G 1 293 2 293 2 g Total no. of codons in cdna seq = 404 gga gga start g-g end g-a g-- --a frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 306 Protein length after deletion = 305 Total no. of codons in del cdnaseq = 404 last codon in array is ga gta (V) gaa (E) aat (N) gga (G) gga (G) agt (S) cta (L) tgt (C) gat (D) gta (V) gaa (E) aat (N) gaa (E) gtc (V) tat (Y) gtg (V) original frameshift length = 14 frameshift length = 14 frameshifted sequence: gaa (E) gtc (V) tat (Y) gtg (V) atc (I) aag (K) aaa (K) tcg (S) ata (I) gca (A) ttt (F) gca (A) gta (V) tag (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 14 293 G 306 * 14 endometrium PTEN 1 c.883_884delCT p.L295fs*2 length of cdnaseq = 1212 length of protseq = 403 883 884 CT 2 295 1 295 2 ct Total no. of codons in cdna seq = 404 cta cta prev t start t-c end t-a --- --a frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 296 Protein length after deletion = 295 Total no. of codons in del cdnaseq = 404 last codon in array is a aat (N) gga (G) agt (S) cta (L) cta (L) tgt (C) gat (D) caa (Q) gaa (E) aat (N) gga (G) agt (S) atg (M) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: atg (M) tga (TER) wild type sequence in deletion region: cta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cta (L) final frameshift length = 2 295 L 296 * 2 endometrium PTEN 1 c.897_915del19 p.E299fs*2 length of cdnaseq = 1212 length of protseq = 403 897 915 19 19 299 3 305 3 aatcgatagcatttgcagt Total no. of codons in cdna seq = 404 gaa agt start a-a post a end t-a ga- --- frameshift deletion length of cdnaseq after deletion = 1193 ter codon is tag at posn 300 Protein length after deletion = 299 Total no. of codons in del cdnaseq = 398 last codon in array is ga tgt (C) gat (D) caa (Q) gaa (E) agt (S) ata (I) gag (E) cgt (R) gca (A) tgt (C) gat (D) caa (Q) gaa (E) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gaa (E) tag (TER) wild type sequence in deletion region: gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) wt frameshift deln region length = 7 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 1 299 E 300 * 2 I E 1 endometrium PTEN c.897_915del19 p.E299fs*2 endometrium PTEN 1 c.898_898delA p.I300fs*7 length of cdnaseq = 1212 length of protseq = 403 898 898 A 1 300 1 300 1 a Total no. of codons in cdna seq = 404 atc atc prev a start a-a end a-t --- -tc frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 306 Protein length after deletion = 305 Total no. of codons in del cdnaseq = 404 last codon in array is ga gat (D) caa (Q) gaa (E) atc (I) atc (I) gat (D) agc (S) att (I) tgc (C) gat (D) caa (Q) gaa (E) tcg (S) ata (I) gca (A) ttt (F) original frameshift length = 7 frameshift length = 7 frameshifted sequence: tcg (S) ata (I) gca (A) ttt (F) gca (A) gta (V) tag (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 7 300 I 306 * 7 endometrium PTEN 1 c.89delC p.P30fs*24 length of cdnaseq = 1212 length of protseq = 403 89 89 C 1 30 2 30 2 c Total no. of codons in cdna seq = 404 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 53 Protein length after deletion = 52 Total no. of codons in del cdnaseq = 404 last codon in array is ga tat (Y) att (I) tat (Y) cca (P) cca (P) aac (N) att (I) att (I) gct (A) tat (Y) att (I) tat (Y) caa (Q) aca (T) tta (L) ttg (L) original frameshift length = 24 frameshift length = 24 frameshifted sequence: caa (Q) aca (T) tta (L) ttg (L) cta (L) tgg (W) gat (D) ttc (F) ctg (L) cag (Q) aaa (K) gac (D) ttg (L) aag (K) gcg (A) tat (Y) aca (T) gga (G) aca (T) ata (I) ttg (L) atg (M) atg (M) tag (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 24 30 P 53 * 24 endometrium PTEN 1 c.9_10delCA p.I4fs*6 length of cdnaseq = 1212 length of protseq = 403 9 10 CA 2 3 3 4 1 ca Total no. of codons in cdna seq = 404 gcc atc start c-c end a-t gc- -tc frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 9 Protein length after deletion = 8 Total no. of codons in del cdnaseq = 404 last codon in array is a --- ( ) atg (M) aca (T) gcc (A) atc (I) atc (I) aaa (K) gag (E) atc (I) --- ( ) atg (M) aca (T) gct (A) cat (H) caa (Q) aga (R) original frameshift length = 7 frameshift length = 7 frameshifted sequence: gct (A) cat (H) caa (Q) aga (R) gat (D) cgt (R) tag (TER) wild type sequence in deletion region: gcc (A) atc (I) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gcc (A) gct (A) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 6 4 I 9 * 6 endometrium PTEN 1 c.922_928delCGTGCAG p.R308fs*7 length of cdnaseq = 1212 length of protseq = 403 922 928 CGTGCAG 7 308 1 310 1 cgtgcag Total no. of codons in cdna seq = 404 cgt gat prev g start g-c end g-a --- -at frameshift deletion length of cdnaseq after deletion = 1205 ter codon is tag at posn 314 Protein length after deletion = 313 Total no. of codons in del cdnaseq = 402 last codon in array is ga agt (S) ata (I) gag (E) cgt (R) gat (D) aat (N) gac (D) aag (K) gaa (E) agt (S) ata (I) gag (E) ata (I) atg (M) aca (T) agg (R) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ata (I) atg (M) aca (T) agg (R) aat (N) atc (I) tag (TER) wild type sequence in deletion region: cgt (R) gca (A) gat (D) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 7 308 R 314 * 7 endometrium PTEN 1 c.923_924delGT p.R308fs*3 length of cdnaseq = 1212 length of protseq = 403 923 924 GT 2 308 2 308 3 gt Total no. of codons in cdna seq = 404 cgt cgt start c-g post g end t-g c-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is taa at posn 310 Protein length after deletion = 309 Total no. of codons in del cdnaseq = 404 last codon in array is a agt (S) ata (I) gag (E) cgt (R) cgt (R) gca (A) gat (D) aat (N) gac (D) agt (S) ata (I) gag (E) cgc (R) aga (R) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cgc (R) aga (R) taa (TER) wild type sequence in deletion region: cgt (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgt (R) cgc (R) first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 2 308 R 310 * 3 A R 1 endometrium PTEN c.923_924delGT p.R308fs*3 endometrium PTEN 1 c.9_30del22 p.A3fs*14 length of cdnaseq = 1212 length of protseq = 403 9 30 22 22 3 3 10 3 catcatcaaagagatcgttagc Total no. of codons in cdna seq = 404 gcc agc start c-c post a end c-a gc- --- frameshift deletion length of cdnaseq after deletion = 1190 ter codon is tag at posn 16 Protein length after deletion = 15 Total no. of codons in del cdnaseq = 397 last codon in array is ga --- ( ) atg (M) aca (T) gcc (A) agc (S) aga (R) aac (N) aaa (K) agg (R) --- ( ) atg (M) aca (T) gca (A) gaa (E) aca (T) aaa (K) original frameshift length = 14 frameshift length = 14 frameshifted sequence: gca (A) gaa (E) aca (T) aaa (K) gga (G) gat (D) atc (I) aag (K) agg (R) atg (M) gat (D) tcg (S) act (T) tag (TER) wild type sequence in deletion region: gcc (A) atc (I) atc (I) aaa (K) gag (E) atc (I) gtt (V) agc (S) wt frameshift deln region length = 8 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 13 3 A 16 * 14 I A 1 endometrium PTEN c.9_30del22 p.A3fs*14 endometrium PTEN 1 c.932_932delA p.N311fs*6 length of cdnaseq = 1212 length of protseq = 403 932 932 A 1 311 2 311 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 316 Protein length after deletion = 315 Total no. of codons in del cdnaseq = 404 last codon in array is ga cgt (R) gca (A) gat (D) aat (N) aat (N) gac (D) aag (K) gaa (E) tat (Y) cgt (R) gca (A) gat (D) atg (M) aca (T) agg (R) aat (N) original frameshift length = 6 frameshift length = 6 frameshifted sequence: atg (M) aca (T) agg (R) aat (N) atc (I) tag (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 6 311 N 316 * 6 endometrium PTEN 1 c.938delA p.K313fs*4 length of cdnaseq = 1212 length of protseq = 403 938 938 A 1 313 2 313 2 a Total no. of codons in cdna seq = 404 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 316 Protein length after deletion = 315 Total no. of codons in del cdnaseq = 404 last codon in array is ga gat (D) aat (N) gac (D) aag (K) aag (K) gaa (E) tat (Y) cta (L) gta (V) gat (D) aat (N) gac (D) agg (R) aat (N) atc (I) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: agg (R) aat (N) atc (I) tag (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 4 313 K 316 * 4 endometrium PTEN 1 c.942delA p.E314fs*3 length of cdnaseq = 1212 length of protseq = 403 942 942 A 1 314 3 314 3 a Total no. of codons in cdna seq = 404 gaa gaa start a-a post t end a-t ga- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 316 Protein length after deletion = 315 Total no. of codons in del cdnaseq = 404 last codon in array is ga aat (N) gac (D) aag (K) gaa (E) gaa (E) tat (Y) cta (L) gta (V) ctt (L) aat (N) gac (D) aag (K) gat (D) atc (I) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gat (D) atc (I) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 3 314 E 316 * 3 endometrium PTEN 1 c.954delT p.L318fs*3 length of cdnaseq = 1212 length of protseq = 403 954 954 T 1 318 3 318 3 t Total no. of codons in cdna seq = 404 ctt ctt start t-t post a end t-a ct- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 320 Protein length after deletion = 319 Total no. of codons in del cdnaseq = 404 last codon in array is ga tat (Y) cta (L) gta (V) ctt (L) ctt (L) act (T) tta (L) aca (T) aaa (K) tat (Y) cta (L) gta (V) cta (L) ctt (L) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cta (L) ctt (L) taa (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctt (L) cta (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 2 318 L 320 * 3 T L 1 endometrium PTEN c.954delT p.L318fs*3 endometrium PTEN 1 c.962_965delCAAA p.T321fs*22 length of cdnaseq = 1212 length of protseq = 403 962 965 CAAA 4 321 2 322 2 caaa Total no. of codons in cdna seq = 404 aca aaa start a-c end a-a a-- --a frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 403 last codon in array is ga ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) ctt (L) act (T) tta (L) aaa (K) atg (M) atc (I) ttg (L) original frameshift length = 22 frameshift length = 22 frameshifted sequence: aaa (K) atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aca (T) aaa (K) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 22 321 T 342 * 22 endometrium PTEN 1 c.967_968delAA p.N323fs*1 length of cdnaseq = 1212 length of protseq = 403 967 968 AA 2 323 1 323 2 aa Total no. of codons in cdna seq = 404 aat aat prev a start a-a end a-t --- --t frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 323 Protein length after deletion = 322 Total no. of codons in del cdnaseq = 404 last codon in array is a tta (L) aca (T) aaa (K) aat (N) aat (N) gat (D) ctt (L) gac (D) aaa (K) tta (L) aca (T) aaa (K) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 1 323 N 323 * 1 endometrium PTEN 1 c.97_100delATTG p.I33fs*20 length of cdnaseq = 1212 length of protseq = 403 97 100 ATTG 4 33 1 34 1 attg Total no. of codons in cdna seq = 404 att gct prev t start t-a end g-c --- -ct frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tag at posn 52 Protein length after deletion = 51 Total no. of codons in del cdnaseq = 403 last codon in array is ga cca (P) aac (N) att (I) att (I) gct (A) atg (M) gga (G) ttt (F) cct (P) cca (P) aac (N) att (I) cta (L) tgg (W) gat (D) ttc (F) original frameshift length = 20 frameshift length = 20 frameshifted sequence: cta (L) tgg (W) gat (D) ttc (F) ctg (L) cag (Q) aaa (K) gac (D) ttg (L) aag (K) gcg (A) tat (Y) aca (T) gga (G) aca (T) ata (I) ttg (L) atg (M) atg (M) tag (TER) wild type sequence in deletion region: att (I) gct (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 20 33 I 52 * 20 endometrium PTEN 1 c.984_987delAAAT p.A328fs*15 length of cdnaseq = 1212 length of protseq = 403 984 987 AAAT 4 328 3 329 3 aaat Total no. of codons in cdna seq = 404 gca aat start c-a post a end t-a gc- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 403 last codon in array is ga ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) ctt (L) gac (D) aaa (K) gca (A) aag (K) aca (T) aag (K) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gca (A) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: gca (A) aat (N) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gca (A) gca (A) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 14 328 A 342 * 15 N A 1 endometrium PTEN c.984_987delAAAT p.A328fs*15 endometrium PTEN 1 c.989_990delAA p.K330fs*12 length of cdnaseq = 1212 length of protseq = 403 989 990 AA 2 330 2 330 3 aa Total no. of codons in cdna seq = 404 aaa aaa start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is taa at posn 341 Protein length after deletion = 340 Total no. of codons in del cdnaseq = 404 last codon in array is a aaa (K) gca (A) aat (N) aaa (K) aaa (K) gac (D) aaa (K) gcc (A) aac (N) aaa (K) gca (A) aat (N) aga (R) caa (Q) agc (S) caa (Q) original frameshift length = 12 frameshift length = 12 frameshifted sequence: aga (R) caa (Q) agc (S) caa (Q) ccg (P) ata (I) ctt (L) ttc (F) tcc (S) aaa (K) ttt (F) taa (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 12 330 K 341 * 12 haematopoietic_and_lymphoid_tissue PTEN 1 c.1_8delATGACAGC p.M1fs*7 length of cdnaseq = 1212 length of protseq = 403 1 8 ATGACAGC 8 1 1 3 2 atgacagc Total no. of codons in cdna seq = 404 atg gcc deletion begins at cdna pos 1 end c-c --- --c frameshift deletion length of cdnaseq after deletion = 1204 ter codon is tag at posn 7 Protein length after deletion = 6 Total no. of codons in del cdnaseq = 402 last codon in array is a --- ( ) --- ( ) --- ( ) atg (M) gcc (A) atc (I) atc (I) aaa (K) gag (E) --- ( ) --- ( ) --- ( ) cat (H) cat (H) caa (Q) aga (R) original frameshift length = 7 frameshift length = 7 frameshifted sequence: cat (H) cat (H) caa (Q) aga (R) gat (D) cgt (R) tag (TER) wild type sequence in deletion region: atg (M) aca (T) gcc (A) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 7 1 M 7 * 7 haematopoietic_and_lymphoid_tissue PTEN 1 c.696_705del10 p.R233fs*20 length of cdnaseq = 1212 length of protseq = 403 696 705 10 10 232 3 235 3 acgacgggaa Total no. of codons in cdna seq = 404 aca gaa start c-a post g end a-g ac- --- frameshift deletion length of cdnaseq after deletion = 1202 ter codon is tag at posn 252 Protein length after deletion = 251 Total no. of codons in del cdnaseq = 401 last codon in array is ga tca (S) gga (G) ccc (P) aca (T) gaa (E) gac (D) aag (K) ttc (F) atg (M) tca (S) gga (G) ccc (P) acg (T) aca (T) agt (S) tca (S) original frameshift length = 21 frameshift length = 21 frameshifted sequence: acg (T) aca (T) agt (S) tca (S) tgt (C) act (T) ttg (L) agt (S) tcc (S) ctc (L) agc (S) cgt (R) tac (Y) ctg (L) tgt (C) gtg (V) gtg (V) ata (I) tca (S) aag (K) tag (TER) wild type sequence in deletion region: aca (T) cga (R) cgg (R) gaa (E) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: aca (T) acg (T) first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 20 233 R 252 * 20 haematopoietic_and_lymphoid_tissue PTEN 1 c.701_729del29 p.R234fs*9 length of cdnaseq = 1212 length of protseq = 403 701 729 29 29 234 2 243 3 gggaagacaagttcatgtactttgagttc Total no. of codons in cdna seq = 404 cgg ttc start c-g post c end c-c c-- --- frameshift deletion length of cdnaseq after deletion = 1183 ter codon is tga at posn 242 Protein length after deletion = 241 Total no. of codons in del cdnaseq = 395 last codon in array is a ccc (P) aca (T) cga (R) cgg (R) ttc (F) cct (P) cag (Q) ccg (P) tta (L) ccc (P) aca (T) cga (R) ccc (P) tca (S) gcc (A) gtt (V) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ccc (P) tca (S) gcc (A) gtt (V) acc (T) tgt (C) gtg (V) tgg (W) tga (TER) wild type sequence in deletion region: cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) wt frameshift deln region length = 10 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 9 234 R 242 * 9 haematopoietic_and_lymphoid_tissue PTEN 1 c.740_741delTA p.L247fs*5 length of cdnaseq = 1212 length of protseq = 403 740 741 TA 2 247 2 247 3 ta Total no. of codons in cdna seq = 404 tta tta start t-t post c end a-c t-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 251 Protein length after deletion = 250 Total no. of codons in del cdnaseq = 404 last codon in array is a cct (P) cag (Q) ccg (P) tta (L) tta (L) cct (P) gtg (V) tgt (C) ggt (G) cct (P) cag (Q) ccg (P) tcc (S) tgt (C) gtg (V) tgg (W) original frameshift length = 5 frameshift length = 5 frameshifted sequence: tcc (S) tgt (C) gtg (V) tgg (W) tga (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 5 247 L 251 * 5 haematopoietic_and_lymphoid_tissue PTEN 1 c.743_744delCT p.P248fs*4 length of cdnaseq = 1212 length of protseq = 403 743 744 CT 2 248 2 248 3 ct Total no. of codons in cdna seq = 404 cct cct start c-c post g end t-g c-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 251 Protein length after deletion = 250 Total no. of codons in del cdnaseq = 404 last codon in array is a cag (Q) ccg (P) tta (L) cct (P) cct (P) gtg (V) tgt (C) ggt (G) gat (D) cag (Q) ccg (P) tta (L) cgt (R) gtg (V) tgg (W) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: cgt (R) gtg (V) tgg (W) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 4 248 P 251 * 4 haematopoietic_and_lymphoid_tissue PTEN 1 c.80_1212del1133 p.Y27fs*1 length of cdnaseq = 1212 length of protseq = 403 80 1212 1133 1133 27 2 404 3 atatttatccaaacattattgctatgggatttcctgcagaaagacttgaaggcgtatacaggaacaatattgatgatgtagtaaggtttttggattcaaagcataaaaaccattacaagatatacaatctttgtgctgaaagacattatgacaccgccaaatttaattgcagagttgcacaatatccttttgaagaccataacccaccacagctagaacttatcaaacccttttgtgaagatcttgaccaatggctaagtgaagatgacaatcatgttgcagcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaatttttaaaggcacaagaggccctagatttctatggggaagtaaggaccagagacaaaaagggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaacttgcaatcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 tat tga start t-a deletion ends at cdna end t-- --- frameshift deletion length of cdnaseq after deletion = 79 Total no. of codons in del cdnaseq = 27 last codon in array is t No ter codons in deleted sequence Protein length after deletion = 26 gac (D) ttg (L) acc (T) tat (Y) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) gac (D) ttg (L) acc (T) t (end) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: t (end) wild type sequence in deletion region: tat (Y) att (I) tat (Y) cca (P) aac (N) att (I) att (I) gct (A) atg (M) gga (G) ttt (F) cct (P) gca (A) gaa (E) aga (R) ctt (L) gaa (E) ggc (G) gta (V) tac (Y) agg (R) aac (N) aat (N) att (I) gat (D) gat (D) gta (V) gta (V) agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) gat (D) ctt (L) gac (D) caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) gat (D) ttc (F) tat (Y) ggg (G) gaa (E) gta (V) agg (R) acc (T) aga (R) gac (D) aaa (K) aag (K) gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt frameshift deln region length = 378 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 27 Y 27 * 1 kidney PTEN 1 c.514_532del19 p.R172fs*5 length of cdnaseq = 1212 length of protseq = 403 514 532 19 19 172 1 178 1 aggcgctatgtgtattatt Total no. of codons in cdna seq = 404 agg tat prev g start g-a end t-a --- -at frameshift deletion length of cdnaseq after deletion = 1193 ter codon is taa at posn 176 Protein length after deletion = 175 Total no. of codons in del cdnaseq = 398 last codon in array is ga ccc (P) agt (S) cag (Q) agg (R) tat (Y) agc (S) tac (Y) ctg (L) tta (L) ccc (P) agt (S) cag (Q) ata (I) gct (A) acc (T) tgt (C) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ata (I) gct (A) acc (T) tgt (C) taa (TER) wild type sequence in deletion region: agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 5 172 R 176 * 5 kidney PTEN 1 c.530_531delAT p.Y177fs*2 length of cdnaseq = 1212 length of protseq = 403 530 531 AT 2 177 2 177 3 at Total no. of codons in cdna seq = 404 tat tat start t-a post t end t-t t-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 178 Protein length after deletion = 177 Total no. of codons in del cdnaseq = 404 last codon in array is a tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tat (Y) gtg (V) tat (Y) tta (L) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: tta (L) tag (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 2 177 Y 178 * 2 kidney PTEN 1 c.968delA p.N323fs*21 length of cdnaseq = 1212 length of protseq = 403 968 968 A 1 323 2 323 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga tta (L) aca (T) aaa (K) aat (N) aat (N) gat (D) ctt (L) gac (D) aaa (K) tta (L) aca (T) aaa (K) atg (M) atc (I) ttg (L) aca (T) original frameshift length = 21 frameshift length = 21 frameshifted sequence: atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 21 323 N 343 * 21 large_intestine PTEN 1 c.170delT p.L57fs*42 length of cdnaseq = 1212 length of protseq = 403 170 170 T 1 57 2 57 2 t Total no. of codons in cdna seq = 404 ttg ttg start t-t end t-g t-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 404 last codon in array is ga gta (V) agg (R) ttt (F) ttg (L) ttg (L) gat (D) tca (S) aag (K) cat (H) gta (V) agg (R) ttt (F) tgg (W) att (I) caa (Q) agc (S) original frameshift length = 42 frameshift length = 42 frameshifted sequence: tgg (W) att (I) caa (Q) agc (S) ata (I) aaa (K) acc (T) att (I) aca (T) aga (R) tat (Y) aca (T) atc (I) ttt (F) gtg (V) ctg (L) aaa (K) gac (D) att (I) atg (M) aca (T) ccg (P) cca (P) aat (N) tta (L) att (I) gca (A) gag (E) ttg (L) cac (H) aat (N) atc (I) ctt (L) ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: ttg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 42 57 L 98 * 42 large_intestine PTEN 1 c.21_22delGA p.E7fs*3 length of cdnaseq = 1212 length of protseq = 403 21 22 GA 2 7 3 8 1 ga Total no. of codons in cdna seq = 404 gag atc start a-g end a-t ga- -tc frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 9 Protein length after deletion = 8 Total no. of codons in del cdnaseq = 404 last codon in array is a atc (I) atc (I) aaa (K) gag (E) atc (I) gtt (V) agc (S) aga (R) aac (N) atc (I) atc (I) aaa (K) gat (D) cgt (R) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gat (D) cgt (R) tag (TER) wild type sequence in deletion region: gag (E) atc (I) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 3 7 E 9 * 3 large_intestine PTEN 1 c.270delT p.F90fs*9 length of cdnaseq = 1212 length of protseq = 403 270 270 T 1 90 3 90 3 t Total no. of codons in cdna seq = 404 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 404 last codon in array is ga caa (Q) tat (Y) cct (P) ttt (F) ttt (F) gaa (E) gac (D) cat (H) aac (N) caa (Q) tat (Y) cct (P) ttg (L) aag (K) acc (T) ata (I) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 9 90 F 98 * 9 large_intestine PTEN 1 c.954_957delTACT p.L318fs*2 length of cdnaseq = 1212 length of protseq = 403 954 957 TACT 4 318 3 319 3 tact Total no. of codons in cdna seq = 404 ctt act start t-t post t end t-t ct- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctt (L) taa (TER) wild type sequence in deletion region: ctt (L) act (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 318 L 319 * 2 T L 1 large_intestine PTEN c.954_957delTACT p.L318fs*2 lung PTEN 1 c.165_1212del1048 p.R55fs*1 length of cdnaseq = 1212 length of protseq = 403 165 1212 1048 1048 55 3 404 3 gtttttggattcaaagcataaaaaccattacaagatatacaatctttgtgctgaaagacattatgacaccgccaaatttaattgcagagttgcacaatatccttttgaagaccataacccaccacagctagaacttatcaaacccttttgtgaagatcttgaccaatggctaagtgaagatgacaatcatgttgcagcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaatttttaaaggcacaagaggccctagatttctatggggaagtaaggaccagagacaaaaagggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaacttgcaatcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 agg tga start g-g deletion ends at cdna end ag- --- frameshift deletion length of cdnaseq after deletion = 164 Total no. of codons in del cdnaseq = 55 last codon in array is ag No ter codons in deleted sequence Protein length after deletion = 54 gat (D) gta (V) gta (V) agg (R) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) gat (D) gta (V) gta (V) ag (end) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: ag (end) wild type sequence in deletion region: agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) gat (D) ctt (L) gac (D) caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) gat (D) ttc (F) tat (Y) ggg (G) gaa (E) gta (V) agg (R) acc (T) aga (R) gac (D) aaa (K) aag (K) gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt frameshift deln region length = 350 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 1 55 R 55 * 1 lung PTEN 1 c.711delG p.K237fs*19 length of cdnaseq = 1212 length of protseq = 403 711 711 G 1 237 3 237 3 g Total no. of codons in cdna seq = 404 aag aag start a-g post t end g-t aa- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 255 Protein length after deletion = 254 Total no. of codons in del cdnaseq = 404 last codon in array is ga cgg (R) gaa (E) gac (D) aag (K) aag (K) ttc (F) atg (M) tac (Y) ttt (F) cgg (R) gaa (E) gac (D) aat (N) tca (S) tgt (C) act (T) original frameshift length = 19 frameshift length = 19 frameshifted sequence: aat (N) tca (S) tgt (C) act (T) ttg (L) agt (S) tcc (S) ctc (L) agc (S) cgt (R) tac (Y) ctg (L) tgt (C) gtg (V) gtg (V) ata (I) tca (S) aag (K) tag (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 19 237 K 255 * 19 lung PTEN 1 c.80_1212del1133 p.Y27fs*1 length of cdnaseq = 1212 length of protseq = 403 80 1212 1133 1133 27 2 404 3 atatttatccaaacattattgctatgggatttcctgcagaaagacttgaaggcgtatacaggaacaatattgatgatgtagtaaggtttttggattcaaagcataaaaaccattacaagatatacaatctttgtgctgaaagacattatgacaccgccaaatttaattgcagagttgcacaatatccttttgaagaccataacccaccacagctagaacttatcaaacccttttgtgaagatcttgaccaatggctaagtgaagatgacaatcatgttgcagcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaatttttaaaggcacaagaggccctagatttctatggggaagtaaggaccagagacaaaaagggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaacttgcaatcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 tat tga start t-a deletion ends at cdna end t-- --- frameshift deletion length of cdnaseq after deletion = 79 Total no. of codons in del cdnaseq = 27 last codon in array is t No ter codons in deleted sequence Protein length after deletion = 26 gac (D) ttg (L) acc (T) tat (Y) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) gac (D) ttg (L) acc (T) t (end) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: t (end) wild type sequence in deletion region: tat (Y) att (I) tat (Y) cca (P) aac (N) att (I) att (I) gct (A) atg (M) gga (G) ttt (F) cct (P) gca (A) gaa (E) aga (R) ctt (L) gaa (E) ggc (G) gta (V) tac (Y) agg (R) aac (N) aat (N) att (I) gat (D) gat (D) gta (V) gta (V) agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) gat (D) ctt (L) gac (D) caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) gat (D) ttc (F) tat (Y) ggg (G) gaa (E) gta (V) agg (R) acc (T) aga (R) gac (D) aaa (K) aag (K) gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt frameshift deln region length = 378 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 27 Y 27 * 1 lung PTEN 1 c.968delA p.N323fs*21 length of cdnaseq = 1212 length of protseq = 403 968 968 A 1 323 2 323 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga tta (L) aca (T) aaa (K) aat (N) aat (N) gat (D) ctt (L) gac (D) aaa (K) tta (L) aca (T) aaa (K) atg (M) atc (I) ttg (L) aca (T) original frameshift length = 21 frameshift length = 21 frameshifted sequence: atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 21 323 N 343 * 21 meninges PTEN 1 c.170delT p.L57fs*42 length of cdnaseq = 1212 length of protseq = 403 170 170 T 1 57 2 57 2 t Total no. of codons in cdna seq = 404 ttg ttg start t-t end t-g t-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 404 last codon in array is ga gta (V) agg (R) ttt (F) ttg (L) ttg (L) gat (D) tca (S) aag (K) cat (H) gta (V) agg (R) ttt (F) tgg (W) att (I) caa (Q) agc (S) original frameshift length = 42 frameshift length = 42 frameshifted sequence: tgg (W) att (I) caa (Q) agc (S) ata (I) aaa (K) acc (T) att (I) aca (T) aga (R) tat (Y) aca (T) atc (I) ttt (F) gtg (V) ctg (L) aaa (K) gac (D) att (I) atg (M) aca (T) ccg (P) cca (P) aat (N) tta (L) att (I) gca (A) gag (E) ttg (L) cac (H) aat (N) atc (I) ctt (L) ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: ttg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 42 57 L 98 * 42 ovary PTEN 1 c.17_18delAA p.K6fs*4 length of cdnaseq = 1212 length of protseq = 403 17 18 AA 2 6 2 6 3 aa Total no. of codons in cdna seq = 404 aaa aaa start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 9 Protein length after deletion = 8 Total no. of codons in del cdnaseq = 404 last codon in array is a gcc (A) atc (I) atc (I) aaa (K) aaa (K) gag (E) atc (I) gtt (V) agc (S) gcc (A) atc (I) atc (I) aga (R) gat (D) cgt (R) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aga (R) gat (D) cgt (R) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 4 6 K 9 * 4 ovary PTEN 1 c.202_203delTA p.Y68fs*5 length of cdnaseq = 1212 length of protseq = 403 202 203 TA 2 68 1 68 2 ta Total no. of codons in cdna seq = 404 tac tac prev a start a-t end a-c --- --c frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 72 Protein length after deletion = 71 Total no. of codons in del cdnaseq = 404 last codon in array is a tac (Y) aag (K) ata (I) tac (Y) tac (Y) aat (N) ctt (L) tgt (C) gct (A) tac (Y) aag (K) ata (I) caa (Q) tct (S) ttg (L) tgc (C) original frameshift length = 5 frameshift length = 5 frameshifted sequence: caa (Q) tct (S) ttg (L) tgc (C) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 5 68 Y 72 * 5 ovary PTEN 1 c.213_213delT p.C71fs*28 length of cdnaseq = 1212 length of protseq = 403 213 213 T 1 71 3 71 3 t Total no. of codons in cdna seq = 404 tgt tgt start g-t post g end t-g tg- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 404 last codon in array is ga tac (Y) aat (N) ctt (L) tgt (C) tgt (C) gct (A) gaa (E) aga (R) cat (H) tac (Y) aat (N) ctt (L) tgg (W) ctg (L) aaa (K) gac (D) original frameshift length = 28 frameshift length = 28 frameshifted sequence: tgg (W) ctg (L) aaa (K) gac (D) att (I) atg (M) aca (T) ccg (P) cca (P) aat (N) tta (L) att (I) gca (A) gag (E) ttg (L) cac (H) aat (N) atc (I) ctt (L) ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: tgt (C) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 28 71 C 98 * 28 ovary PTEN 1 c.389delG p.R130fs*4 length of cdnaseq = 1212 length of protseq = 403 389 389 G 1 130 2 130 2 g Total no. of codons in cdna seq = 404 cga cga start c-g end g-a c-- --a frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 404 last codon in array is ga gga (G) aag (K) gga (G) cga (R) cga (R) act (T) ggt (G) gta (V) atg (M) gga (G) aag (K) gga (G) caa (Q) ctg (L) gtg (V) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: caa (Q) ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: cga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 4 130 R 133 * 4 ovary PTEN 1 c.425_425delG p.G143fs*4 length of cdnaseq = 1212 length of protseq = 403 425 425 G 1 142 2 142 2 g Total no. of codons in cdna seq = 404 cgg cgg start c-g end g-g c-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 146 Protein length after deletion = 145 Total no. of codons in del cdnaseq = 404 last codon in array is ga tta (L) tta (L) cat (H) cgg (R) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) tta (L) tta (L) cat (H) cgg (R) gca (A) aat (N) ttt (F) original frameshift length = 5 frameshift length = 5 frameshifted sequence: cgg (R) gca (A) aat (N) ttt (F) taa (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgg (R) cgg (R) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 4 143 G 146 * 4 ovary PTEN 1 c.504delT p.I168fs*15 length of cdnaseq = 1212 length of protseq = 403 504 504 T 1 168 3 168 3 t Total no. of codons in cdna seq = 404 att att start t-t post c end t-c at- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 182 Protein length after deletion = 181 Total no. of codons in del cdnaseq = 404 last codon in array is ga gga (G) gta (V) act (T) att (I) att (I) ccc (P) agt (S) cag (Q) agg (R) gga (G) gta (V) act (T) atc (I) cca (P) gtc (V) aga (R) original frameshift length = 15 frameshift length = 15 frameshifted sequence: atc (I) cca (P) gtc (V) aga (R) ggc (G) gct (A) atg (M) tgt (C) att (I) att (I) ata (I) gct (A) acc (T) tgt (C) taa (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: att (I) atc (I) matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 13 168 I 182 * 15 S I 1 ovary PTEN c.504delT p.I168fs*15 ovary PTEN 1 c.792_804del13 p.M264fs*8 length of cdnaseq = 1212 length of protseq = 403 792 804 13 13 264 3 268 3 gctaaaaaaggac Total no. of codons in cdna seq = 404 atg gac start t-g post a end c-a at- --- frameshift deletion length of cdnaseq after deletion = 1199 ter codon is taa at posn 271 Protein length after deletion = 270 Total no. of codons in del cdnaseq = 400 last codon in array is ga cag (Q) aac (N) aag (K) atg (M) gac (D) aaa (K) atg (M) ttt (F) cac (H) cag (Q) aac (N) aag (K) ata (I) aaa (K) tgt (C) ttc (F) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ata (I) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: atg (M) cta (L) aaa (K) aag (K) gac (D) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 8 264 M 271 * 8 ovary PTEN 1 c.795_795delA p.K267fs*9 length of cdnaseq = 1212 length of protseq = 403 795 795 A 1 265 3 265 3 a Total no. of codons in cdna seq = 404 cta cta start t-a post a end a-a ct- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga aac (N) aag (K) atg (M) cta (L) cta (L) aaa (K) aag (K) gac (D) aaa (K) aac (N) aag (K) atg (M) cta (L) aaa (K) agg (R) aca (T) original frameshift length = 11 frameshift length = 11 frameshifted sequence: cta (L) aaa (K) agg (R) aca (T) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: cta (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cta (L) cta (L) matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 9 267 K 275 * 9 ovary PTEN 1 c.800delA p.K267fs*9 length of cdnaseq = 1212 length of protseq = 403 800 800 A 1 267 2 267 2 a Total no. of codons in cdna seq = 404 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga atg (M) cta (L) aaa (K) aag (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) atg (M) cta (L) aaa (K) agg (R) aca (T) aaa (K) tgt (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: agg (R) aca (T) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 9 267 K 275 * 9 ovary PTEN 1 c.867delA p.V290fs*1 length of cdnaseq = 1212 length of protseq = 403 867 867 A 1 289 3 289 3 a Total no. of codons in cdna seq = 404 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 290 Protein length after deletion = 289 Total no. of codons in del cdnaseq = 404 last codon in array is ga acc (T) tca (S) gaa (E) aaa (K) aaa (K) gta (V) gaa (E) aat (N) gga (G) acc (T) tca (S) gaa (E) aag (K) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aag (K) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 290 V 290 * 1 ovary PTEN 1 c.923delG p.R308fs*9 length of cdnaseq = 1212 length of protseq = 403 923 923 G 1 308 2 308 2 g Total no. of codons in cdna seq = 404 cgt cgt start c-g end g-t c-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 316 Protein length after deletion = 315 Total no. of codons in del cdnaseq = 404 last codon in array is ga agt (S) ata (I) gag (E) cgt (R) cgt (R) gca (A) gat (D) aat (N) gac (D) agt (S) ata (I) gag (E) ctg (L) cag (Q) ata (I) atg (M) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ctg (L) cag (Q) ata (I) atg (M) aca (T) agg (R) aat (N) atc (I) tag (TER) wild type sequence in deletion region: cgt (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 9 308 R 316 * 9 ovary PTEN 1 c.951_954delACTT p.V317fs*3 length of cdnaseq = 1212 length of protseq = 403 951 954 ACTT 4 317 3 318 3 actt Total no. of codons in cdna seq = 404 gta ctt start t-a post a end t-a gt- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gta (V) ctt (L) taa (TER) wild type sequence in deletion region: gta (V) ctt (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gta (V) gta (V) matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 317 V 319 * 3 T V 1 ovary PTEN c.951_954delACTT p.V317fs*3 ovary PTEN 1 c.953_956delTTAC p.L318fs*2 length of cdnaseq = 1212 length of protseq = 403 953 956 TTAC 4 318 2 319 2 ttac Total no. of codons in cdna seq = 404 ctt act start c-t end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctt (L) taa (TER) wild type sequence in deletion region: ctt (L) act (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 318 L 319 * 2 T L 1 ovary PTEN c.953_956delTTAC p.L318fs*2 ovary PTEN 1 c.963delA p.T321fs*23 length of cdnaseq = 1212 length of protseq = 403 963 963 A 1 321 3 321 3 a Total no. of codons in cdna seq = 404 aca aca start c-a post a end a-a ac- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga ctt (L) act (T) tta (L) aca (T) aca (T) aaa (K) aat (N) gat (D) ctt (L) ctt (L) act (T) tta (L) aca (T) aaa (K) atg (M) atc (I) original frameshift length = 23 frameshift length = 23 frameshifted sequence: aca (T) aaa (K) atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aca (T) aca (T) matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 21 321 T 343 * 23 N T 1 ovary PTEN c.963delA p.T321fs*23 prostate PTEN 1 c.107delG p.G36fs*18 length of cdnaseq = 1212 length of protseq = 403 107 107 G 1 36 2 36 2 g Total no. of codons in cdna seq = 404 gga gga start g-g end g-a g-- --a frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 53 Protein length after deletion = 52 Total no. of codons in del cdnaseq = 404 last codon in array is ga att (I) gct (A) atg (M) gga (G) gga (G) ttt (F) cct (P) gca (A) gaa (E) att (I) gct (A) atg (M) gat (D) ttc (F) ctg (L) cag (Q) original frameshift length = 18 frameshift length = 18 frameshifted sequence: gat (D) ttc (F) ctg (L) cag (Q) aaa (K) gac (D) ttg (L) aag (K) gcg (A) tat (Y) aca (T) gga (G) aca (T) ata (I) ttg (L) atg (M) atg (M) tag (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 18 36 G 53 * 18 prostate PTEN 1 c.165_1212del1048 p.R55fs*1 length of cdnaseq = 1212 length of protseq = 403 165 1212 1048 1048 55 3 404 3 gtttttggattcaaagcataaaaaccattacaagatatacaatctttgtgctgaaagacattatgacaccgccaaatttaattgcagagttgcacaatatccttttgaagaccataacccaccacagctagaacttatcaaacccttttgtgaagatcttgaccaatggctaagtgaagatgacaatcatgttgcagcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaatttttaaaggcacaagaggccctagatttctatggggaagtaaggaccagagacaaaaagggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaacttgcaatcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 agg tga start g-g deletion ends at cdna end ag- --- frameshift deletion length of cdnaseq after deletion = 164 Total no. of codons in del cdnaseq = 55 last codon in array is ag No ter codons in deleted sequence Protein length after deletion = 54 gat (D) gta (V) gta (V) agg (R) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) gat (D) gta (V) gta (V) ag (end) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: ag (end) wild type sequence in deletion region: agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) gat (D) ctt (L) gac (D) caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) gat (D) ttc (F) tat (Y) ggg (G) gaa (E) gta (V) agg (R) acc (T) aga (R) gac (D) aaa (K) aag (K) gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt frameshift deln region length = 350 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 1 55 R 55 * 1 prostate PTEN 1 c.226_227delTA p.Y76fs*1 length of cdnaseq = 1212 length of protseq = 403 226 227 TA 2 76 1 76 2 ta Total no. of codons in cdna seq = 404 tat tat prev t start t-t end a-t --- --t frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 76 Protein length after deletion = 75 Total no. of codons in del cdnaseq = 404 last codon in array is a gaa (E) aga (R) cat (H) tat (Y) tat (Y) gac (D) acc (T) gcc (A) aaa (K) gaa (E) aga (R) cat (H) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 76 Y 76 * 1 prostate PTEN 1 c.730delC p.P244fs*12 length of cdnaseq = 1212 length of protseq = 403 730 730 C 1 244 1 244 1 c Total no. of codons in cdna seq = 404 cct cct prev c start c-c end c-c --- -ct frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 255 Protein length after deletion = 254 Total no. of codons in del cdnaseq = 404 last codon in array is ga ttt (F) gag (E) ttc (F) cct (P) cct (P) cag (Q) ccg (P) tta (L) cct (P) ttt (F) gag (E) ttc (F) ctc (L) agc (S) cgt (R) tac (Y) original frameshift length = 12 frameshift length = 12 frameshifted sequence: ctc (L) agc (S) cgt (R) tac (Y) ctg (L) tgt (C) gtg (V) gtg (V) ata (I) tca (S) aag (K) tag (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 12 244 P 255 * 12 prostate PTEN 1 c.950_953delTACT p.V317fs*3 length of cdnaseq = 1212 length of protseq = 403 950 953 TACT 4 317 2 318 2 tact Total no. of codons in cdna seq = 404 gta ctt start g-t end t-t g-- --t frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gta (V) ctt (L) taa (TER) wild type sequence in deletion region: gta (V) ctt (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gta (V) gta (V) matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 317 V 319 * 3 T V 1 prostate PTEN c.950_953delTACT p.V317fs*3 skin PTEN 1 c.17_18delAA p.K6fs*4 length of cdnaseq = 1212 length of protseq = 403 17 18 AA 2 6 2 6 3 aa Total no. of codons in cdna seq = 404 aaa aaa start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 9 Protein length after deletion = 8 Total no. of codons in del cdnaseq = 404 last codon in array is a gcc (A) atc (I) atc (I) aaa (K) aaa (K) gag (E) atc (I) gtt (V) agc (S) gcc (A) atc (I) atc (I) aga (R) gat (D) cgt (R) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aga (R) gat (D) cgt (R) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 4 6 K 9 * 4 skin PTEN 1 c.524_558del35 p.V175fs*3 length of cdnaseq = 1212 length of protseq = 403 524 558 35 35 175 2 186 3 tgtattattatagctacctgttaaagaatcatctg Total no. of codons in cdna seq = 404 gtg ctg start g-t post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 1177 ter codon is tag at posn 177 Protein length after deletion = 176 Total no. of codons in del cdnaseq = 393 last codon in array is a agg (R) cgc (R) tat (Y) gtg (V) ctg (L) gat (D) tat (Y) aga (R) cca (P) agg (R) cgc (R) tat (Y) gga (G) tta (L) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gga (G) tta (L) tag (TER) wild type sequence in deletion region: gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) wt frameshift deln region length = 12 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 3 175 V 177 * 3 skin PTEN 1 c.843_850delAGGACCAG p.P281fs*14 length of cdnaseq = 1212 length of protseq = 403 843 850 AGGACCAG 8 281 3 284 1 aggaccag Total no. of codons in cdna seq = 404 cca gag start c-a end g-a cc- -ag frameshift deletion length of cdnaseq after deletion = 1204 ter codon is tga at posn 294 Protein length after deletion = 293 Total no. of codons in del cdnaseq = 402 last codon in array is a ttc (F) ttc (F) ata (I) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) ttc (F) ttc (F) ata (I) cca (P) gga (G) aac (N) ctc (L) original frameshift length = 14 frameshift length = 14 frameshifted sequence: cca (P) gga (G) aac (N) ctc (L) aga (R) aaa (K) agt (S) aga (R) aaa (K) tgg (W) aag (K) tct (S) atg (M) tga (TER) wild type sequence in deletion region: cca (P) gga (G) cca (P) gag (E) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: cca (P) cca (P) matching aa in delstart region of wt and deletion mutant: gga (G) gga (G) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 12 281 P 294 * 14 soft_tissue PTEN 1 c.950_953delTACT p.V317fs*3 length of cdnaseq = 1212 length of protseq = 403 950 953 TACT 4 317 2 318 2 tact Total no. of codons in cdna seq = 404 gta ctt start g-t end t-t g-- --t frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gta (V) ctt (L) taa (TER) wild type sequence in deletion region: gta (V) ctt (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gta (V) gta (V) matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 317 V 319 * 3 T V 1 soft_tissue PTEN c.950_953delTACT p.V317fs*3 soft_tissue PTEN 1 c.955_958delACTT p.T319fs*1 length of cdnaseq = 1212 length of protseq = 403 955 958 ACTT 4 319 1 320 1 actt Total no. of codons in cdna seq = 404 act tta prev t start t-a end t-t --- -ta frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: act (T) tta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 319 T 319 * 1 thyroid PTEN 1 c.761_765delAAGTA p.K254fs*42 length of cdnaseq = 1212 length of protseq = 403 761 765 AAGTA 5 254 2 255 3 aagta Total no. of codons in cdna seq = 404 aaa gta start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 403 last codon in array is a ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) ggt (G) gat (D) atc (I) aga (R) gtt (V) ctt (L) cca (P) original frameshift length = 42 frameshift length = 42 frameshifted sequence: aga (R) gtt (V) ctt (L) cca (P) caa (Q) aca (T) gaa (E) caa (Q) gat (D) gct (A) aaa (K) aaa (K) gga (G) caa (Q) aat (N) gtt (V) tca (S) ctt (L) ttg (L) ggt (G) aaa (K) tac (Y) att (I) ctt (L) cat (H) acc (T) agg (R) acc (T) aga (R) gga (G) aac (N) ctc (L) aga (R) aaa (K) agt (S) aga (R) aaa (K) tgg (W) aag (K) tct (S) atg (M) tga (TER) wild type sequence in deletion region: aaa (K) gta (V) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 42 254 K 295 * 42 thyroid PTEN 1 c.968delA p.N323fs*21 length of cdnaseq = 1212 length of protseq = 403 968 968 A 1 323 2 323 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga tta (L) aca (T) aaa (K) aat (N) aat (N) gat (D) ctt (L) gac (D) aaa (K) tta (L) aca (T) aaa (K) atg (M) atc (I) ttg (L) aca (T) original frameshift length = 21 frameshift length = 21 frameshifted sequence: atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 21 323 N 343 * 21 upper_aerodigestive_tract PTEN 1 c.800delA p.K267fs*9 length of cdnaseq = 1212 length of protseq = 403 800 800 A 1 267 2 267 2 a Total no. of codons in cdna seq = 404 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga atg (M) cta (L) aaa (K) aag (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) atg (M) cta (L) aaa (K) agg (R) aca (T) aaa (K) tgt (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: agg (R) aca (T) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 9 267 K 275 * 9 urinary_tract PTEN 1 c.635_1212del578 p.N212fs*1 length of cdnaseq = 1212 length of protseq = 403 635 1212 578 578 212 2 404 3 atcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 aat tga start a-a deletion ends at cdna end a-- --- frameshift deletion length of cdnaseq after deletion = 634 Total no. of codons in del cdnaseq = 212 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 211 gga (G) act (T) tgc (C) aat (N) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) gga (G) act (T) tgc (C) a (end) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: a (end) wild type sequence in deletion region: aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt frameshift deln region length = 193 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 1 212 N 212 * 1 vulva PTEN 1 c.968delA p.N323fs*21 length of cdnaseq = 1212 length of protseq = 403 968 968 A 1 323 2 323 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga tta (L) aca (T) aaa (K) aat (N) aat (N) gat (D) ctt (L) gac (D) aaa (K) tta (L) aca (T) aaa (K) atg (M) atc (I) ttg (L) aca (T) original frameshift length = 21 frameshift length = 21 frameshifted sequence: atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 21 323 N 343 * 21 endometrium PTEN 21 c.800delA p.K267fs*9 length of cdnaseq = 1212 length of protseq = 403 800 800 A 1 267 2 267 2 a Total no. of codons in cdna seq = 404 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga atg (M) cta (L) aaa (K) aag (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) atg (M) cta (L) aaa (K) agg (R) aca (T) aaa (K) tgt (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: agg (R) aca (T) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 9 267 K 275 * 9 breast PTEN 2 c.208_251del44 p.L70fs*7 length of cdnaseq = 1212 length of protseq = 403 208 251 44 44 70 1 84 2 ctttgtgctgaaagacattatgacaccgccaaatttaattgcag Total no. of codons in cdna seq = 404 ctt aga prev t start t-c end g-a --- --a frameshift deletion length of cdnaseq after deletion = 1168 ter codon is tga at posn 76 Protein length after deletion = 75 Total no. of codons in del cdnaseq = 390 last codon in array is a ata (I) tac (Y) aat (N) ctt (L) aga (R) gtt (V) gca (A) caa (Q) tat (Y) ata (I) tac (Y) aat (N) agt (S) tgc (C) aca (T) ata (I) original frameshift length = 7 frameshift length = 7 frameshifted sequence: agt (S) tgc (C) aca (T) ata (I) tcc (S) ttt (F) tga (TER) wild type sequence in deletion region: ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) wt frameshift deln region length = 15 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 7 70 L 76 * 7 breast PTEN 2 c.821_821delG p.V275fs*1 length of cdnaseq = 1212 length of protseq = 403 821 821 G 1 274 2 274 2 g Total no. of codons in cdna seq = 404 tgg tgg start t-g end g-g t-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga ttt (F) cac (H) ttt (F) tgg (W) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttt (F) cac (H) ttt (F) tgg (W) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: tgg (W) taa (TER) wild type sequence in deletion region: tgg (W) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tgg (W) tgg (W) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 275 V 275 * 1 breast PTEN 2 c.823delG p.V275fs*1 length of cdnaseq = 1212 length of protseq = 403 823 823 G 1 275 1 275 1 g Total no. of codons in cdna seq = 404 gta gta prev g start g-g end g-t --- -ta frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga cac (H) ttt (F) tgg (W) gta (V) gta (V) aat (N) aca (T) ttc (F) ttc (F) cac (H) ttt (F) tgg (W) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 275 V 275 * 1 central_nervous_system PTEN 2 c.1121delC p.P374fs*30 length of cdnaseq = 1212 length of protseq = 403 1121 1121 C 1 374 2 374 2 c Total no. of codons in cdna seq = 404 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1211 Total no. of codons in del cdnaseq = 404 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 403 gac (D) aat (N) gaa (E) cct (P) cct (P) gat (D) cat (H) tat (Y) aga (R) gac (D) aat (N) gaa (E) ctg (L) atc (I) att (I) ata (I) original frameshift length = 31 frameshift length = 30 frameshifted sequence: ctg (L) atc (I) att (I) ata (I) gat (D) att (I) ctg (L) aca (T) cca (P) ctg (L) act (T) ctg (L) atc (I) cag (Q) aga (R) atg (M) aac (N) ctt (L) ttg (L) atg (M) aag (K) atc (I) agc (S) ata (I) cac (H) aaa (K) tta (L) caa (Q) aag (K) tct (S) ga (end) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 30 374 P 403 * 30 central_nervous_system PTEN 2 c.1129_1132delTATA p.Y377fs*35 length of cdnaseq = 1212 length of protseq = 403 1129 1132 TATA 4 377 1 378 1 tata Total no. of codons in cdna seq = 404 tat aga prev t start t-t end a-g --- -ga frameshift deletion length of cdnaseq after deletion = 1208 Total no. of codons in del cdnaseq = 403 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 402 cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) cct (P) gat (D) cat (H) gat (D) att (I) ctg (L) aca (T) original frameshift length = 27 frameshift length = 26 frameshifted sequence: gat (D) att (I) ctg (L) aca (T) cca (P) ctg (L) act (T) ctg (L) atc (I) cag (Q) aga (R) atg (M) aac (N) ctt (L) ttg (L) atg (M) aag (K) atc (I) agc (S) ata (I) cac (H) aaa (K) tta (L) caa (Q) aag (K) tct (S) ga (end) wild type sequence in deletion region: tat (Y) aga (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 26 377 Y 411 * 35 central_nervous_system PTEN 2 c.1133_1136delGATA p.R378fs*25 length of cdnaseq = 1212 length of protseq = 403 1133 1136 GATA 4 378 2 379 2 gata Total no. of codons in cdna seq = 404 aga tat start a-g end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1208 Total no. of codons in del cdnaseq = 403 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 402 gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gat (D) cat (H) tat (Y) att (I) ctg (L) aca (T) cca (P) original frameshift length = 26 frameshift length = 25 frameshifted sequence: att (I) ctg (L) aca (T) cca (P) ctg (L) act (T) ctg (L) atc (I) cag (Q) aga (R) atg (M) aac (N) ctt (L) ttg (L) atg (M) aag (K) atc (I) agc (S) ata (I) cac (H) aaa (K) tta (L) caa (Q) aag (K) tct (S) ga (end) wild type sequence in deletion region: aga (R) tat (Y) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 25 378 R 402 * 25 central_nervous_system PTEN 2 c.165_1212del1048 p.R55fs*1 length of cdnaseq = 1212 length of protseq = 403 165 1212 1048 1048 55 3 404 3 gtttttggattcaaagcataaaaaccattacaagatatacaatctttgtgctgaaagacattatgacaccgccaaatttaattgcagagttgcacaatatccttttgaagaccataacccaccacagctagaacttatcaaacccttttgtgaagatcttgaccaatggctaagtgaagatgacaatcatgttgcagcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaatttttaaaggcacaagaggccctagatttctatggggaagtaaggaccagagacaaaaagggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaacttgcaatcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 agg tga start g-g deletion ends at cdna end ag- --- frameshift deletion length of cdnaseq after deletion = 164 Total no. of codons in del cdnaseq = 55 last codon in array is ag No ter codons in deleted sequence Protein length after deletion = 54 gat (D) gta (V) gta (V) agg (R) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) gat (D) gta (V) gta (V) ag (end) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: ag (end) wild type sequence in deletion region: agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) gat (D) ctt (L) gac (D) caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) gat (D) ttc (F) tat (Y) ggg (G) gaa (E) gta (V) agg (R) acc (T) aga (R) gac (D) aaa (K) aag (K) gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt frameshift deln region length = 350 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 1 55 R 55 * 1 central_nervous_system PTEN 2 c.210_253del44 p.L70fs*7 length of cdnaseq = 1212 length of protseq = 403 210 253 44 44 70 3 85 1 ttgtgctgaaagacattatgacaccgccaaatttaattgcagag Total no. of codons in cdna seq = 404 ctt gtt start t-t end g-t ct- -tt frameshift deletion length of cdnaseq after deletion = 1168 ter codon is tga at posn 76 Protein length after deletion = 75 Total no. of codons in del cdnaseq = 390 last codon in array is a ata (I) tac (Y) aat (N) ctt (L) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ata (I) tac (Y) aat (N) ctt (L) tgc (C) aca (T) ata (I) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ctt (L) tgc (C) aca (T) ata (I) tcc (S) ttt (F) tga (TER) wild type sequence in deletion region: ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) wt frameshift deln region length = 16 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) matching aa in delstart region of wt and deletion mutant: tgt (C) tgc (C) first wt aa affected by frameshift deletion is : gct (A) final frameshift length = 5 70 L 76 * 7 A L 2 central_nervous_system PTEN c.210_253del44 p.L70fs*7 central_nervous_system PTEN 2 c.226_227delTA p.Y76fs*1 length of cdnaseq = 1212 length of protseq = 403 226 227 TA 2 76 1 76 2 ta Total no. of codons in cdna seq = 404 tat tat prev t start t-t end a-t --- --t frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 76 Protein length after deletion = 75 Total no. of codons in del cdnaseq = 404 last codon in array is a gaa (E) aga (R) cat (H) tat (Y) tat (Y) gac (D) acc (T) gcc (A) aaa (K) gaa (E) aga (R) cat (H) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 76 Y 76 * 1 central_nervous_system PTEN 2 c.263_264delAT p.Y88fs*3 length of cdnaseq = 1212 length of protseq = 403 263 264 AT 2 88 2 88 3 at Total no. of codons in cdna seq = 404 tat tat start t-a post c end t-c t-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 90 Protein length after deletion = 89 Total no. of codons in del cdnaseq = 404 last codon in array is a gtt (V) gca (A) caa (Q) tat (Y) tat (Y) cct (P) ttt (F) gaa (E) gac (D) gtt (V) gca (A) caa (Q) tcc (S) ttt (F) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tcc (S) ttt (F) tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 3 88 Y 90 * 3 central_nervous_system PTEN 2 c.348delC p.D116fs*18 length of cdnaseq = 1212 length of protseq = 403 348 348 C 1 116 3 116 3 c Total no. of codons in cdna seq = 404 gac gac start a-c post a end c-a ga- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 404 last codon in array is ga agt (S) gaa (E) gat (D) gac (D) gac (D) aat (N) cat (H) gtt (V) gca (A) agt (S) gaa (E) gat (D) gaa (E) atc (I) atg (M) ttg (L) original frameshift length = 18 frameshift length = 18 frameshifted sequence: gaa (E) atc (I) atg (M) ttg (L) cag (Q) caa (Q) ttc (F) act (T) gta (V) aag (K) ctg (L) gaa (E) agg (R) gac (D) gaa (E) ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 18 116 D 133 * 18 central_nervous_system PTEN 2 c.357delT p.V119fs*15 length of cdnaseq = 1212 length of protseq = 403 357 357 T 1 119 3 119 3 t Total no. of codons in cdna seq = 404 gtt gtt start t-t post g end t-g gt- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 404 last codon in array is ga gac (D) aat (N) cat (H) gtt (V) gtt (V) gca (A) gca (A) att (I) cac (H) gac (D) aat (N) cat (H) gtg (V) cag (Q) caa (Q) ttc (F) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gtg (V) cag (Q) caa (Q) ttc (F) act (T) gta (V) aag (K) ctg (L) gaa (E) agg (R) gac (D) gaa (E) ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gtt (V) gtg (V) first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 14 119 V 133 * 15 A V 2 central_nervous_system PTEN c.357delT p.V119fs*15 central_nervous_system PTEN 2 c.517delC p.R173fs*10 length of cdnaseq = 1212 length of protseq = 403 517 517 C 1 173 1 173 1 c Total no. of codons in cdna seq = 404 cgc cgc prev g start g-c end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 182 Protein length after deletion = 181 Total no. of codons in del cdnaseq = 404 last codon in array is ga agt (S) cag (Q) agg (R) cgc (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) agt (S) cag (Q) agg (R) gct (A) atg (M) tgt (C) att (I) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gct (A) atg (M) tgt (C) att (I) att (I) ata (I) gct (A) acc (T) tgt (C) taa (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 10 173 R 182 * 10 central_nervous_system PTEN 2 c.546_549delAAAG p.L182fs*16 length of cdnaseq = 1212 length of protseq = 403 546 549 AAAG 4 182 3 183 3 aaag Total no. of codons in cdna seq = 404 tta aag start t-a post a end g-a tt- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tga at posn 197 Protein length after deletion = 196 Total no. of codons in del cdnaseq = 403 last codon in array is ga agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) agc (S) tac (Y) ctg (L) tta (L) atc (I) atc (I) tgg (W) original frameshift length = 16 frameshift length = 16 frameshifted sequence: tta (L) atc (I) atc (I) tgg (W) att (I) ata (I) gac (D) cag (Q) tgg (W) cac (H) tgt (C) tgt (C) ttc (F) aca (T) aga (R) tga (TER) wild type sequence in deletion region: tta (L) aag (K) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tta (L) tta (L) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 15 182 L 197 * 16 K L 2 central_nervous_system PTEN c.546_549delAAAG p.L182fs*16 central_nervous_system PTEN 2 c.881_885delGTCTA p.S294fs*2 length of cdnaseq = 1212 length of protseq = 403 881 885 GTCTA 5 294 2 295 3 gtcta Total no. of codons in cdna seq = 404 agt cta start a-g post t end a-t a-- --- frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 403 last codon in array is a gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) gaa (E) aat (N) gga (G) atg (M) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: atg (M) tga (TER) wild type sequence in deletion region: agt (S) cta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 2 294 S 295 * 2 central_nervous_system PTEN 2 c.950_953delTACT p.V317fs*3 length of cdnaseq = 1212 length of protseq = 403 950 953 TACT 4 317 2 318 2 tact Total no. of codons in cdna seq = 404 gta ctt start g-t end t-t g-- --t frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gta (V) ctt (L) taa (TER) wild type sequence in deletion region: gta (V) ctt (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gta (V) gta (V) matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 317 V 319 * 3 T V 2 central_nervous_system PTEN c.950_953delTACT p.V317fs*3 central_nervous_system PTEN 2 c.956_959delCTTT p.T319fs*24 length of cdnaseq = 1212 length of protseq = 403 956 959 CTTT 4 319 2 320 2 cttt Total no. of codons in cdna seq = 404 act tta start a-c end t-a a-- --a frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 403 last codon in array is ga cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) cta (L) gta (V) ctt (L) aaa (K) caa (Q) aaa (K) atg (M) original frameshift length = 24 frameshift length = 24 frameshifted sequence: aaa (K) caa (Q) aaa (K) atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: act (T) tta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 24 319 T 342 * 24 central_nervous_system PTEN 2 c.968delA p.N323fs*21 length of cdnaseq = 1212 length of protseq = 403 968 968 A 1 323 2 323 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga tta (L) aca (T) aaa (K) aat (N) aat (N) gat (D) ctt (L) gac (D) aaa (K) tta (L) aca (T) aaa (K) atg (M) atc (I) ttg (L) aca (T) original frameshift length = 21 frameshift length = 21 frameshifted sequence: atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 21 323 N 343 * 21 cervix PTEN 2 c.800delA p.K267fs*9 length of cdnaseq = 1212 length of protseq = 403 800 800 A 1 267 2 267 2 a Total no. of codons in cdna seq = 404 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga atg (M) cta (L) aaa (K) aag (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) atg (M) cta (L) aaa (K) agg (R) aca (T) aaa (K) tgt (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: agg (R) aca (T) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 9 267 K 275 * 9 endometrium PTEN 2 c.750_751delTG p.C250fs*2 length of cdnaseq = 1212 length of protseq = 403 750 751 TG 2 250 3 251 1 tg Total no. of codons in cdna seq = 404 tgt ggt start g-t end g-g tg- -gt frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 251 Protein length after deletion = 250 Total no. of codons in del cdnaseq = 404 last codon in array is a tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) tta (L) cct (P) gtg (V) tgg (W) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: tgg (W) tga (TER) wild type sequence in deletion region: tgt (C) ggt (G) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 2 250 C 251 * 2 endometrium PTEN 2 c.799delA p.K267fs*9 length of cdnaseq = 1212 length of protseq = 403 799 799 A 1 267 1 267 1 a Total no. of codons in cdna seq = 404 aag aag prev a start a-a end a-a --- -ag frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga atg (M) cta (L) aaa (K) aag (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) atg (M) cta (L) aaa (K) agg (R) aca (T) aaa (K) tgt (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: agg (R) aca (T) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 9 267 K 275 * 9 endometrium PTEN 2 c.863delA p.E288fs*3 length of cdnaseq = 1212 length of protseq = 403 863 863 A 1 288 2 288 2 a Total no. of codons in cdna seq = 404 gaa gaa start g-a end a-a g-- --a frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 290 Protein length after deletion = 289 Total no. of codons in del cdnaseq = 404 last codon in array is ga gaa (E) acc (T) tca (S) gaa (E) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gaa (E) acc (T) tca (S) gaa (E) aag (K) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gaa (E) aag (K) tag (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 288 E 290 * 3 V E 2 endometrium PTEN c.863delA p.E288fs*3 endometrium PTEN 2 c.923delG p.R308fs*9 length of cdnaseq = 1212 length of protseq = 403 923 923 G 1 308 2 308 2 g Total no. of codons in cdna seq = 404 cgt cgt start c-g end g-t c-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 316 Protein length after deletion = 315 Total no. of codons in del cdnaseq = 404 last codon in array is ga agt (S) ata (I) gag (E) cgt (R) cgt (R) gca (A) gat (D) aat (N) gac (D) agt (S) ata (I) gag (E) ctg (L) cag (Q) ata (I) atg (M) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ctg (L) cag (Q) ata (I) atg (M) aca (T) agg (R) aat (N) atc (I) tag (TER) wild type sequence in deletion region: cgt (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 9 308 R 316 * 9 endometrium PTEN 2 c.950_954delTACTT p.V317fs*6 length of cdnaseq = 1212 length of protseq = 403 950 954 TACTT 5 317 2 318 3 tactt Total no. of codons in cdna seq = 404 gta ctt start g-t post a end t-a g-- --- frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 322 Protein length after deletion = 321 Total no. of codons in del cdnaseq = 403 last codon in array is a gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) gaa (E) tat (Y) cta (L) gac (D) ttt (F) aac (N) aaa (K) original frameshift length = 6 frameshift length = 6 frameshifted sequence: gac (D) ttt (F) aac (N) aaa (K) aaa (K) tga (TER) wild type sequence in deletion region: gta (V) ctt (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 6 317 V 322 * 6 endometrium PTEN 2 c.953_956delTTAC p.L318fs*2 length of cdnaseq = 1212 length of protseq = 403 953 956 TTAC 4 318 2 319 2 ttac Total no. of codons in cdna seq = 404 ctt act start c-t end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctt (L) taa (TER) wild type sequence in deletion region: ctt (L) act (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 318 L 319 * 2 T L 2 endometrium PTEN c.953_956delTTAC p.L318fs*2 endometrium PTEN 2 c.956_959delCTTT p.T319fs*24 length of cdnaseq = 1212 length of protseq = 403 956 959 CTTT 4 319 2 320 2 cttt Total no. of codons in cdna seq = 404 act tta start a-c end t-a a-- --a frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 403 last codon in array is ga cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) cta (L) gta (V) ctt (L) aaa (K) caa (Q) aaa (K) atg (M) original frameshift length = 24 frameshift length = 24 frameshifted sequence: aaa (K) caa (Q) aaa (K) atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: act (T) tta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 24 319 T 342 * 24 endometrium PTEN 2 c.96delT p.I32fs*22 length of cdnaseq = 1212 length of protseq = 403 96 96 T 1 32 3 32 3 t Total no. of codons in cdna seq = 404 att att start t-t post a end t-a at- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 53 Protein length after deletion = 52 Total no. of codons in del cdnaseq = 404 last codon in array is ga tat (Y) cca (P) aac (N) att (I) att (I) att (I) gct (A) atg (M) gga (G) tat (Y) cca (P) aac (N) ata (I) ttg (L) cta (L) tgg (W) original frameshift length = 22 frameshift length = 22 frameshifted sequence: ata (I) ttg (L) cta (L) tgg (W) gat (D) ttc (F) ctg (L) cag (Q) aaa (K) gac (D) ttg (L) aag (K) gcg (A) tat (Y) aca (T) gga (G) aca (T) ata (I) ttg (L) atg (M) atg (M) tag (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: att (I) ata (I) first wt aa affected by frameshift deletion is : att (I) final frameshift length = 21 32 I 53 * 22 endometrium PTEN 2 c.97delA p.I33fs*21 length of cdnaseq = 1212 length of protseq = 403 97 97 A 1 33 1 33 1 a Total no. of codons in cdna seq = 404 att att prev t start t-a end a-t --- -tt frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 53 Protein length after deletion = 52 Total no. of codons in del cdnaseq = 404 last codon in array is ga cca (P) aac (N) att (I) att (I) att (I) gct (A) atg (M) gga (G) ttt (F) cca (P) aac (N) att (I) ttg (L) cta (L) tgg (W) gat (D) original frameshift length = 21 frameshift length = 21 frameshifted sequence: ttg (L) cta (L) tgg (W) gat (D) ttc (F) ctg (L) cag (Q) aaa (K) gac (D) ttg (L) aag (K) gcg (A) tat (Y) aca (T) gga (G) aca (T) ata (I) ttg (L) atg (M) atg (M) tag (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 21 33 I 53 * 21 endometrium PTEN 2 c.987_990delTAAA p.N329fs*14 length of cdnaseq = 1212 length of protseq = 403 987 990 TAAA 4 329 3 330 3 taaa Total no. of codons in cdna seq = 404 aat aaa start a-t post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is tga at posn 342 Protein length after deletion = 341 Total no. of codons in del cdnaseq = 403 last codon in array is ga gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) gac (D) aaa (K) gca (A) aag (K) aca (T) aag (K) cca (P) original frameshift length = 14 frameshift length = 14 frameshifted sequence: aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aat (N) aaa (K) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 14 329 N 342 * 14 endometrium PTEN 2 c.993delC p.D331fs*13 length of cdnaseq = 1212 length of protseq = 403 993 993 C 1 331 3 331 3 c Total no. of codons in cdna seq = 404 gac gac start a-c post a end c-a ga- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga gca (A) aat (N) aaa (K) gac (D) gac (D) aaa (K) gcc (A) aac (N) cga (R) gca (A) aat (N) aaa (K) gaa (E) aag (K) cca (P) acc (T) original frameshift length = 13 frameshift length = 13 frameshifted sequence: gaa (E) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 13 331 D 343 * 13 haematopoietic_and_lymphoid_tissue PTEN 2 c.800delA p.K267fs*9 length of cdnaseq = 1212 length of protseq = 403 800 800 A 1 267 2 267 2 a Total no. of codons in cdna seq = 404 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 275 Protein length after deletion = 274 Total no. of codons in del cdnaseq = 404 last codon in array is ga atg (M) cta (L) aaa (K) aag (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) atg (M) cta (L) aaa (K) agg (R) aca (T) aaa (K) tgt (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: agg (R) aca (T) aaa (K) tgt (C) ttc (F) act (T) ttt (F) ggg (G) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 9 267 K 275 * 9 large_intestine PTEN 2 c.955_958delACTT p.T319fs*1 length of cdnaseq = 1212 length of protseq = 403 955 958 ACTT 4 319 1 320 1 actt Total no. of codons in cdna seq = 404 act tta prev t start t-a end t-t --- -ta frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: act (T) tta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 319 T 319 * 1 liver PTEN 2 c.954_957delTACT p.L318fs*2 length of cdnaseq = 1212 length of protseq = 403 954 957 TACT 4 318 3 319 3 tact Total no. of codons in cdna seq = 404 ctt act start t-t post t end t-t ct- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctt (L) taa (TER) wild type sequence in deletion region: ctt (L) act (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 318 L 319 * 2 T L 2 liver PTEN c.954_957delTACT p.L318fs*2 ovary PTEN 2 c.968delA p.N323fs*21 length of cdnaseq = 1212 length of protseq = 403 968 968 A 1 323 2 323 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga tta (L) aca (T) aaa (K) aat (N) aat (N) gat (D) ctt (L) gac (D) aaa (K) tta (L) aca (T) aaa (K) atg (M) atc (I) ttg (L) aca (T) original frameshift length = 21 frameshift length = 21 frameshifted sequence: atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 21 323 N 343 * 21 prostate PTEN 2 c.16_17delAA p.K6fs*4 length of cdnaseq = 1212 length of protseq = 403 16 17 AA 2 6 1 6 2 aa Total no. of codons in cdna seq = 404 aaa aaa prev c start c-a end a-a --- --a frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 9 Protein length after deletion = 8 Total no. of codons in del cdnaseq = 404 last codon in array is a gcc (A) atc (I) atc (I) aaa (K) aaa (K) gag (E) atc (I) gtt (V) agc (S) gcc (A) atc (I) atc (I) aga (R) gat (D) cgt (R) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aga (R) gat (D) cgt (R) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 4 6 K 9 * 4 prostate PTEN 2 c.17_18delAA p.K6fs*4 length of cdnaseq = 1212 length of protseq = 403 17 18 AA 2 6 2 6 3 aa Total no. of codons in cdna seq = 404 aaa aaa start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 9 Protein length after deletion = 8 Total no. of codons in del cdnaseq = 404 last codon in array is a gcc (A) atc (I) atc (I) aaa (K) aaa (K) gag (E) atc (I) gtt (V) agc (S) gcc (A) atc (I) atc (I) aga (R) gat (D) cgt (R) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aga (R) gat (D) cgt (R) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 4 6 K 9 * 4 vulva PTEN 2 c.750_751delTG p.C250fs*2 length of cdnaseq = 1212 length of protseq = 403 750 751 TG 2 250 3 251 1 tg Total no. of codons in cdna seq = 404 tgt ggt start g-t end g-g tg- -gt frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 251 Protein length after deletion = 250 Total no. of codons in del cdnaseq = 404 last codon in array is a tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) tta (L) cct (P) gtg (V) tgg (W) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: tgg (W) tga (TER) wild type sequence in deletion region: tgt (C) ggt (G) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 2 250 C 251 * 2 central_nervous_system PTEN 3 c.364_368delATTCA p.I122fs*2 length of cdnaseq = 1212 length of protseq = 403 364 368 ATTCA 5 122 1 123 2 attca Total no. of codons in cdna seq = 404 att cac prev a start a-a end a-c --- --c frameshift deletion length of cdnaseq after deletion = 1207 ter codon is taa at posn 123 Protein length after deletion = 122 Total no. of codons in del cdnaseq = 403 last codon in array is a gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) gtt (V) gca (A) gca (A) ctg (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctg (L) taa (TER) wild type sequence in deletion region: att (I) cac (H) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 2 122 I 123 * 2 central_nervous_system PTEN 3 c.370delT p.C124fs*10 length of cdnaseq = 1212 length of protseq = 403 370 370 T 1 124 1 124 1 t Total no. of codons in cdna seq = 404 tgt tgt prev c start c-t end t-g --- -gt frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 404 last codon in array is ga gca (A) att (I) cac (H) tgt (C) tgt (C) aaa (K) gct (A) gga (G) aag (K) gca (A) att (I) cac (H) gta (V) aag (K) ctg (L) gaa (E) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gta (V) aag (K) ctg (L) gaa (E) agg (R) gac (D) gaa (E) ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: tgt (C) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 10 124 C 133 * 10 central_nervous_system PTEN 3 c.493_631del139 p.G165fs*9 length of cdnaseq = 1212 length of protseq = 403 493 631 139 139 165 1 211 1 ggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaactt Total no. of codons in cdna seq = 404 gga tgc prev g start g-g end t-g --- -gc frameshift deletion length of cdnaseq after deletion = 1073 ter codon is taa at posn 174 Protein length after deletion = 173 Total no. of codons in del cdnaseq = 358 last codon in array is ga gac (D) aaa (K) aag (K) gga (G) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gac (D) aaa (K) aag (K) gca (A) atc (I) ctc (L) agt (S) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gca (A) atc (I) ctc (L) agt (S) ttg (L) tgg (W) tct (S) gcc (A) agc (S) taa (TER) wild type sequence in deletion region: gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) wt frameshift deln region length = 47 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 10 165 G 173 * 9 central_nervous_system PTEN 3 c.760_764delAAAGT p.K254fs*42 length of cdnaseq = 1212 length of protseq = 403 760 764 AAAGT 5 254 1 255 2 aaagt Total no. of codons in cdna seq = 404 aaa gta prev c start c-a end t-a --- --a frameshift deletion length of cdnaseq after deletion = 1207 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 403 last codon in array is a ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) ggt (G) gat (D) atc (I) aga (R) gtt (V) ctt (L) cca (P) original frameshift length = 42 frameshift length = 42 frameshifted sequence: aga (R) gtt (V) ctt (L) cca (P) caa (Q) aca (T) gaa (E) caa (Q) gat (D) gct (A) aaa (K) aaa (K) gga (G) caa (Q) aat (N) gtt (V) tca (S) ctt (L) ttg (L) ggt (G) aaa (K) tac (Y) att (I) ctt (L) cat (H) acc (T) agg (R) acc (T) aga (R) gga (G) aac (N) ctc (L) aga (R) aaa (K) agt (S) aga (R) aaa (K) tgg (W) aag (K) tct (S) atg (M) tga (TER) wild type sequence in deletion region: aaa (K) gta (V) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 42 254 K 295 * 42 endometrium PTEN 3 c.17_18delAA p.K6fs*4 length of cdnaseq = 1212 length of protseq = 403 17 18 AA 2 6 2 6 3 aa Total no. of codons in cdna seq = 404 aaa aaa start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 9 Protein length after deletion = 8 Total no. of codons in del cdnaseq = 404 last codon in array is a gcc (A) atc (I) atc (I) aaa (K) aaa (K) gag (E) atc (I) gtt (V) agc (S) gcc (A) atc (I) atc (I) aga (R) gat (D) cgt (R) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aga (R) gat (D) cgt (R) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 4 6 K 9 * 4 endometrium PTEN 3 c.187_188delAA p.N63fs*10 length of cdnaseq = 1212 length of protseq = 403 187 188 AA 2 63 1 63 2 aa Total no. of codons in cdna seq = 404 aac aac prev a start a-a end a-c --- --c frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 72 Protein length after deletion = 71 Total no. of codons in del cdnaseq = 404 last codon in array is a aag (K) cat (H) aaa (K) aac (N) aac (N) cat (H) tac (Y) aag (K) ata (I) aag (K) cat (H) aaa (K) cca (P) tta (L) caa (Q) gat (D) original frameshift length = 10 frameshift length = 10 frameshifted sequence: cca (P) tta (L) caa (Q) gat (D) ata (I) caa (Q) tct (S) ttg (L) tgc (C) tga (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 10 63 N 72 * 10 endometrium PTEN 3 c.188delA p.N63fs*36 length of cdnaseq = 1212 length of protseq = 403 188 188 A 1 63 2 63 2 a Total no. of codons in cdna seq = 404 aac aac start a-a end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 98 Protein length after deletion = 97 Total no. of codons in del cdnaseq = 404 last codon in array is ga aag (K) cat (H) aaa (K) aac (N) aac (N) cat (H) tac (Y) aag (K) ata (I) aag (K) cat (H) aaa (K) acc (T) att (I) aca (T) aga (R) original frameshift length = 36 frameshift length = 36 frameshifted sequence: acc (T) att (I) aca (T) aga (R) tat (Y) aca (T) atc (I) ttt (F) gtg (V) ctg (L) aaa (K) gac (D) att (I) atg (M) aca (T) ccg (P) cca (P) aat (N) tta (L) att (I) gca (A) gag (E) ttg (L) cac (H) aat (N) atc (I) ctt (L) ttg (L) aag (K) acc (T) ata (I) acc (T) cac (H) cac (H) agc (S) tag (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 36 63 N 98 * 36 endometrium PTEN 3 c.391delA p.T131fs*3 length of cdnaseq = 1212 length of protseq = 403 391 391 A 1 131 1 131 1 a Total no. of codons in cdna seq = 404 act act prev a start a-a end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 404 last codon in array is ga aag (K) gga (G) cga (R) act (T) act (T) ggt (G) gta (V) atg (M) ata (I) aag (K) gga (G) cga (R) ctg (L) gtg (V) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: ctg (L) gtg (V) taa (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 3 131 T 133 * 3 endometrium PTEN 3 c.491delA p.K164fs*3 length of cdnaseq = 1212 length of protseq = 403 491 491 A 1 164 2 164 2 a Total no. of codons in cdna seq = 404 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1211 ter codon is taa at posn 166 Protein length after deletion = 165 Total no. of codons in del cdnaseq = 404 last codon in array is ga aga (R) gac (D) aaa (K) aag (K) aag (K) gga (G) gta (V) act (T) att (I) aga (R) gac (D) aaa (K) agg (R) gag (E) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: agg (R) gag (E) taa (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 3 164 K 166 * 3 central_nervous_system PTEN 4 c.227_228delAT p.Y76fs*1 length of cdnaseq = 1212 length of protseq = 403 227 228 AT 2 76 2 76 3 at Total no. of codons in cdna seq = 404 tat tat start t-a post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 76 Protein length after deletion = 75 Total no. of codons in del cdnaseq = 404 last codon in array is a gaa (E) aga (R) cat (H) tat (Y) tat (Y) gac (D) acc (T) gcc (A) aaa (K) gaa (E) aga (R) cat (H) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 76 Y 76 * 1 central_nervous_system PTEN 4 c.954_957delTACT p.L318fs*2 length of cdnaseq = 1212 length of protseq = 403 954 957 TACT 4 318 3 319 3 tact Total no. of codons in cdna seq = 404 ctt act start t-t post t end t-t ct- --- frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctt (L) taa (TER) wild type sequence in deletion region: ctt (L) act (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 318 L 319 * 2 T L 4 central_nervous_system PTEN c.954_957delTACT p.L318fs*2 endometrium PTEN 4 c.227_228delAT p.Y76fs*1 length of cdnaseq = 1212 length of protseq = 403 227 228 AT 2 76 2 76 3 at Total no. of codons in cdna seq = 404 tat tat start t-a post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tga at posn 76 Protein length after deletion = 75 Total no. of codons in del cdnaseq = 404 last codon in array is a gaa (E) aga (R) cat (H) tat (Y) tat (Y) gac (D) acc (T) gcc (A) aaa (K) gaa (E) aga (R) cat (H) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 1 76 Y 76 * 1 central_nervous_system PTEN 5 c.955_958delACTT p.T319fs*1 length of cdnaseq = 1212 length of protseq = 403 955 958 ACTT 4 319 1 320 1 actt Total no. of codons in cdna seq = 404 act tta prev t start t-a end t-t --- -ta frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) cta (L) gta (V) ctt (L) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: act (T) tta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 319 T 319 * 1 large_intestine PTEN 5 c.968delA p.N323fs*21 length of cdnaseq = 1212 length of protseq = 403 968 968 A 1 323 2 323 2 a Total no. of codons in cdna seq = 404 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga tta (L) aca (T) aaa (K) aat (N) aat (N) gat (D) ctt (L) gac (D) aaa (K) tta (L) aca (T) aaa (K) atg (M) atc (I) ttg (L) aca (T) original frameshift length = 21 frameshift length = 21 frameshifted sequence: atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 21 323 N 343 * 21 endometrium PTEN 6 c.1040_1041delTC p.F347fs*13 length of cdnaseq = 1212 length of protseq = 403 1040 1041 TC 2 347 2 347 3 tc Total no. of codons in cdna seq = 404 ttc ttc start t-t post a end c-a t-- --- frameshift deletion length of cdnaseq after deletion = 1210 ter codon is tag at posn 359 Protein length after deletion = 358 Total no. of codons in del cdnaseq = 404 last codon in array is a aag (K) ctg (L) tac (Y) ttc (F) ttc (F) aca (T) aaa (K) aca (T) gta (V) aag (K) ctg (L) tac (Y) tac (Y) aaa (K) aac (N) agt (S) original frameshift length = 13 frameshift length = 13 frameshifted sequence: tac (Y) aaa (K) aac (N) agt (S) aga (R) gga (G) gcc (A) gtc (V) aaa (K) tcc (S) aga (R) ggc (G) tag (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 13 347 F 359 * 13 endometrium PTEN 7 c.867delA p.V290fs*1 length of cdnaseq = 1212 length of protseq = 403 867 867 A 1 289 3 289 3 a Total no. of codons in cdna seq = 404 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tag at posn 290 Protein length after deletion = 289 Total no. of codons in del cdnaseq = 404 last codon in array is ga acc (T) tca (S) gaa (E) aaa (K) aaa (K) gta (V) gaa (E) aat (N) gga (G) acc (T) tca (S) gaa (E) aag (K) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aag (K) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 1 290 V 290 * 1 endometrium PTEN 7 c.963delA p.T321fs*23 length of cdnaseq = 1212 length of protseq = 403 963 963 A 1 321 3 321 3 a Total no. of codons in cdna seq = 404 aca aca start c-a post a end a-a ac- --- frameshift deletion length of cdnaseq after deletion = 1211 ter codon is tga at posn 343 Protein length after deletion = 342 Total no. of codons in del cdnaseq = 404 last codon in array is ga ctt (L) act (T) tta (L) aca (T) aca (T) aaa (K) aat (N) gat (D) ctt (L) ctt (L) act (T) tta (L) aca (T) aaa (K) atg (M) atc (I) original frameshift length = 23 frameshift length = 23 frameshifted sequence: aca (T) aaa (K) atg (M) atc (I) ttg (L) aca (T) aag (K) caa (Q) ata (I) aag (K) aca (T) aag (K) cca (P) acc (T) gat (D) act (T) ttt (F) ctc (L) caa (Q) att (I) tta (L) agg (R) tga (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aca (T) aca (T) matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 21 321 T 343 * 23 N T 7 endometrium PTEN c.963delA p.T321fs*23 endometrium PTEN 8 c.950_953delTACT p.V317fs*3 length of cdnaseq = 1212 length of protseq = 403 950 953 TACT 4 317 2 318 2 tact Total no. of codons in cdna seq = 404 gta ctt start g-t end t-t g-- --t frameshift deletion length of cdnaseq after deletion = 1208 ter codon is taa at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 403 last codon in array is ga gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gta (V) ctt (L) taa (TER) wild type sequence in deletion region: gta (V) ctt (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gta (V) gta (V) matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 317 V 319 * 3 T V 8 endometrium PTEN c.950_953delTACT p.V317fs*3 bone RB1 1 c.2422_2440del19 p.P808fs*12 length of cdnaseq = 2787 length of protseq = 928 2422 2440 19 19 808 1 814 1 cccctgaagagtccatata Total no. of codons in cdna seq = 929 ccc aaa prev a start a-c end a-a --- -aa frameshift deletion length of cdnaseq after deletion = 2768 ter codon is tga at posn 819 Protein length after deletion = 818 Total no. of codons in del cdnaseq = 923 last codon in array is ga tat (Y) att (I) tca (S) ccc (P) aaa (K) att (I) tca (S) gaa (E) ggt (G) tat (Y) att (I) tca (S) aaa (K) ttt (F) cag (Q) aag (K) original frameshift length = 12 frameshift length = 12 frameshifted sequence: aaa (K) ttt (F) cag (Q) aag (K) gtc (V) tgc (C) caa (Q) cac (H) caa (Q) caa (Q) aaa (K) tga (TER) wild type sequence in deletion region: ccc (P) ctg (L) aag (K) agt (S) cca (P) tat (Y) aaa (K) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 12 808 P 819 * 12 breast RB1 1 c.124delC p.L42fs*23 length of cdnaseq = 2787 length of protseq = 928 124 124 C 1 42 1 42 1 c Total no. of codons in cdna seq = 929 ctg ctg prev c start c-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 2786 ter codon is taa at posn 64 Protein length after deletion = 63 Total no. of codons in del cdnaseq = 929 last codon in array is ga ccg (P) gag (E) gac (D) ctg (L) ctg (L) cct (P) ctc (L) gtc (V) agg (R) ccg (P) gag (E) gac (D) tgc (C) ctc (L) tcg (S) tca (S) original frameshift length = 23 frameshift length = 23 frameshifted sequence: tgc (C) ctc (L) tcg (S) tca (S) ggc (G) ttg (L) agt (S) ttg (L) aag (K) aaa (K) cag (Q) aag (K) aac (N) ctg (L) att (I) tta (L) ctg (L) cat (H) tat (Y) gtc (V) aga (R) aat (N) taa (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 23 42 L 64 * 23 breast RB1 1 c.61_74delCCGGCACCGCCGCC p.P21fs*5 length of cdnaseq = 2787 length of protseq = 928 61 74 CCGGCACCGCCGCC 14 21 1 25 2 ccggcaccgccgcc Total no. of codons in cdna seq = 929 ccg ccg prev c start c-c end c-g --- --g frameshift deletion length of cdnaseq after deletion = 2773 ter codon is tga at posn 25 Protein length after deletion = 24 Total no. of codons in del cdnaseq = 925 last codon in array is a gcg (A) gaa (E) ccc (P) ccg (P) ccg (P) ccg (P) ccc (P) cct (P) cct (P) gcg (A) gaa (E) ccc (P) gcc (A) gcc (A) ccc (P) tcc (S) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gcc (A) gcc (A) ccc (P) tcc (S) tga (TER) wild type sequence in deletion region: ccg (P) gca (A) ccg (P) ccg (P) ccg (P) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 5 21 P 25 * 5 central_nervous_system RB1 1 c.346_349delACTT p.T116fs*8 length of cdnaseq = 2787 length of protseq = 928 346 349 ACTT 4 116 1 117 1 actt Total no. of codons in cdna seq = 929 act tta prev c start c-a end t-t --- -ta frameshift deletion length of cdnaseq after deletion = 2783 ter codon is tga at posn 117 Protein length after deletion = 116 Total no. of codons in del cdnaseq = 928 last codon in array is ga atg (M) tcg (S) ttc (F) act (T) tta (L) ctg (L) agc (S) tac (Y) aga (R) atg (M) tcg (S) ttc (F) tac (Y) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: tac (Y) tga (TER) wild type sequence in deletion region: act (T) tta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 2 116 T 123 * 8 central_nervous_system RB1 1 c.769_773delCAGAA p.Q257fs*12 length of cdnaseq = 2787 length of protseq = 928 769 773 CAGAA 5 257 1 258 2 cagaa Total no. of codons in cdna seq = 929 cag aac prev t start t-c end a-c --- --c frameshift deletion length of cdnaseq after deletion = 2782 ter codon is tga at posn 268 Protein length after deletion = 267 Total no. of codons in del cdnaseq = 928 last codon in array is a agg (R) cga (R) ggt (G) cag (Q) aac (N) agg (R) agt (S) gca (A) cgg (R) agg (R) cga (R) ggt (G) cag (Q) gag (E) tgc (C) acg (T) original frameshift length = 12 frameshift length = 12 frameshifted sequence: cag (Q) gag (E) tgc (C) acg (T) gat (D) agc (S) aaa (K) aca (T) act (T) aga (R) aaa (K) tga (TER) wild type sequence in deletion region: cag (Q) aac (N) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cag (Q) cag (Q) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 11 257 Q 268 * 12 N Q 1 central_nervous_system RB1 c.769_773delCAGAA p.Q257fs*12 central_nervous_system RB1 1 c.799_836del38 p.L267fs*3 length of cdnaseq = 2787 length of protseq = 928 799 836 38 38 267 1 279 2 ctagaaaatgatacaagaattattgaagttctctgtaa Total no. of codons in cdna seq = 929 cta aaa prev a start a-c end a-a --- --a frameshift deletion length of cdnaseq after deletion = 2749 ter codon is tga at posn 269 Protein length after deletion = 268 Total no. of codons in del cdnaseq = 917 last codon in array is a gca (A) aaa (K) caa (Q) cta (L) aaa (K) gaa (E) cat (H) gaa (E) tgt (C) gca (A) aaa (K) caa (Q) aga (R) aca (T) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aga (R) aca (T) tga (TER) wild type sequence in deletion region: cta (L) gaa (E) aat (N) gat (D) aca (T) aga (R) att (I) att (I) gaa (E) gtt (V) ctc (L) tgt (C) aaa (K) wt frameshift deln region length = 13 first wt aa affected by frameshift deletion is : cta (L) final frameshift length = 3 267 L 269 * 3 endometrium RB1 1 c.219_220delAG p.R73fs*36 length of cdnaseq = 2787 length of protseq = 928 219 220 AG 2 73 3 74 1 ag Total no. of codons in cdna seq = 929 aga gct start g-a end g-c ag- -ct frameshift deletion length of cdnaseq after deletion = 2785 ter codon is tga at posn 108 Protein length after deletion = 107 Total no. of codons in del cdnaseq = 929 last codon in array is a gtc (V) aga (R) gag (E) aga (R) gct (A) tgg (W) tta (L) act (T) tgg (W) gtc (V) aga (R) gag (E) agc (S) ttg (L) gtt (V) aac (N) original frameshift length = 36 frameshift length = 36 frameshifted sequence: agc (S) ttg (L) gtt (V) aac (N) ttg (L) gga (G) gaa (E) agt (S) ttc (F) atc (I) tgt (C) gga (G) tgg (W) agt (S) att (I) ggg (G) agg (R) tta (L) tat (Y) tca (S) aaa (K) gaa (E) aaa (K) gga (G) act (T) gtg (V) ggg (G) aat (N) ctg (L) tat (Y) ctt (L) tat (Y) tgc (C) acg (T) agt (S) tga (TER) wild type sequence in deletion region: aga (R) gct (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 36 73 R 108 * 36 eye RB1 1 c.1216_1237del22 p.N406fs*4 length of cdnaseq = 2787 length of protseq = 928 1216 1237 22 22 406 1 413 1 aactgcacagtgaatccaaaag Total no. of codons in cdna seq = 929 aac gaa prev c start c-a end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 2765 ter codon is tga at posn 409 Protein length after deletion = 408 Total no. of codons in del cdnaseq = 922 last codon in array is ga tat (Y) ttt (F) aac (N) aac (N) gaa (E) agt (S) ata (I) ctg (L) aaa (K) tat (Y) ttt (F) aac (N) aaa (K) gta (V) tac (Y) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aaa (K) gta (V) tac (Y) tga (TER) wild type sequence in deletion region: aac (N) tgc (C) aca (T) gtg (V) aat (N) cca (P) aaa (K) gaa (E) wt frameshift deln region length = 8 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 4 406 N 409 * 4 eye RB1 1 c.1236delA p.K412fs*5 length of cdnaseq = 2787 length of protseq = 928 1236 1236 A 1 412 3 412 3 a Total no. of codons in cdna seq = 929 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tga at posn 416 Protein length after deletion = 415 Total no. of codons in del cdnaseq = 929 last codon in array is ga gtg (V) aat (N) cca (P) aaa (K) aaa (K) gaa (E) agt (S) ata (I) ctg (L) gtg (V) aat (N) cca (P) aag (K) aaa (K) gta (V) tac (Y) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aag (K) aaa (K) gta (V) tac (Y) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 4 412 K 416 * 5 E K 1 eye RB1 c.1236delA p.K412fs*5 eye RB1 1 c.1447_1448delCA p.H483fs*9 length of cdnaseq = 2787 length of protseq = 928 1447 1448 CA 2 483 1 483 2 ca Total no. of codons in cdna seq = 929 cat cat prev t start t-c end a-t --- --t frameshift deletion length of cdnaseq after deletion = 2785 ter codon is tga at posn 491 Protein length after deletion = 490 Total no. of codons in del cdnaseq = 929 last codon in array is a aac (N) att (I) ttt (F) cat (H) cat (H) atg (M) tct (S) tta (L) ttg (L) aac (N) att (I) ttt (F) tat (Y) gtc (V) ttt (F) att (I) original frameshift length = 9 frameshift length = 9 frameshifted sequence: tat (Y) gtc (V) ttt (F) att (I) ggc (G) gtg (V) cgc (R) tct (S) tga (TER) wild type sequence in deletion region: cat (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cat (H) final frameshift length = 9 483 H 491 * 9 eye RB1 1 c.1723_1726delCAAT p.Q575fs*35 length of cdnaseq = 2787 length of protseq = 928 1723 1726 CAAT 4 575 1 576 1 caat Total no. of codons in cdna seq = 929 caa tca prev a start a-c end t-c --- -ca frameshift deletion length of cdnaseq after deletion = 2783 ter codon is taa at posn 609 Protein length after deletion = 608 Total no. of codons in del cdnaseq = 928 last codon in array is ga ctt (L) att (I) aaa (K) caa (Q) tca (S) aag (K) gac (D) cga (R) gaa (E) ctt (L) att (I) aaa (K) caa (Q) agg (R) acc (T) gag (E) original frameshift length = 35 frameshift length = 35 frameshifted sequence: caa (Q) agg (R) acc (T) gag (E) aag (K) gac (D) caa (Q) ctg (L) atc (I) acc (T) ttg (L) aat (N) ctg (L) ctt (L) gtc (V) ctc (L) tta (L) atc (I) ttc (F) ctc (L) tcc (S) aga (R) ata (I) atc (I) aca (T) ctg (L) cag (Q) cag (Q) ata (I) tgt (C) atc (I) ttt (F) ctc (L) ctg (L) taa (TER) wild type sequence in deletion region: caa (Q) tca (S) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: caa (Q) caa (Q) first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 34 575 Q 609 * 35 S Q 1 eye RB1 c.1723_1726delCAAT p.Q575fs*35 eye RB1 1 c.1735_1744del10 p.R579fs*29 length of cdnaseq = 2787 length of protseq = 928 1735 1744 10 10 579 1 582 1 cgagaaggac Total no. of codons in cdna seq = 929 cga cca prev c start c-c end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 2777 ter codon is taa at posn 607 Protein length after deletion = 606 Total no. of codons in del cdnaseq = 926 last codon in array is ga tca (S) aag (K) gac (D) cga (R) cca (P) act (T) gat (D) cac (H) ctt (L) tca (S) aag (K) gac (D) caa (Q) ctg (L) atc (I) acc (T) original frameshift length = 29 frameshift length = 29 frameshifted sequence: caa (Q) ctg (L) atc (I) acc (T) ttg (L) aat (N) ctg (L) ctt (L) gtc (V) ctc (L) tta (L) atc (I) ttc (F) ctc (L) tcc (S) aga (R) ata (I) atc (I) aca (T) ctg (L) cag (Q) cag (Q) ata (I) tgt (C) atc (I) ttt (F) ctc (L) ctg (L) taa (TER) wild type sequence in deletion region: cga (R) gaa (E) gga (G) cca (P) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 29 579 R 607 * 29 eye RB1 1 c.2084delT p.M695fs*10 length of cdnaseq = 2787 length of protseq = 928 2084 2084 T 1 695 2 695 2 t Total no. of codons in cdna seq = 929 atg atg start a-t end t-g a-- --g frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tga at posn 704 Protein length after deletion = 703 Total no. of codons in del cdnaseq = 929 last codon in array is ga tat (Y) gaa (E) ctc (L) atg (M) atg (M) aga (R) gac (D) agg (R) cat (H) tat (Y) gaa (E) ctc (L) aga (R) gag (E) aca (T) ggc (G) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aga (R) gag (E) aca (T) ggc (G) att (I) tgg (W) acc (T) aaa (K) tta (L) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 10 695 M 704 * 10 eye RB1 1 c.2244delG p.E748fs*6 length of cdnaseq = 2787 length of protseq = 928 2244 2244 G 1 748 3 748 3 g Total no. of codons in cdna seq = 929 gag gag start a-g post t end g-t ga- --- frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tag at posn 753 Protein length after deletion = 752 Total no. of codons in del cdnaseq = 929 last codon in array is ga aaa (K) gaa (E) gag (E) gag (E) gag (E) tat (Y) gat (D) tct (S) att (I) aaa (K) gaa (E) gag (E) gat (D) atg (M) att (I) cta (L) original frameshift length = 6 frameshift length = 6 frameshifted sequence: gat (D) atg (M) att (I) cta (L) tta (L) tag (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 6 748 E 753 * 6 eye RB1 1 c.227delT p.L76fs*1 length of cdnaseq = 2787 length of protseq = 928 227 227 T 1 76 2 76 2 t Total no. of codons in cdna seq = 929 tta tta start t-t end t-a t-- --a frameshift deletion length of cdnaseq after deletion = 2786 ter codon is taa at posn 76 Protein length after deletion = 75 Total no. of codons in del cdnaseq = 929 last codon in array is ga aga (R) gct (A) tgg (W) tta (L) tta (L) act (T) tgg (W) gag (E) aaa (K) aga (R) gct (A) tgg (W) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 1 76 L 76 * 1 eye RB1 1 c.2520delG p.G840fs*9 length of cdnaseq = 2787 length of protseq = 928 2520 2520 G 1 840 3 840 3 g Total no. of codons in cdna seq = 929 ggg ggg start g-g post a end g-a gg- --- frameshift deletion length of cdnaseq after deletion = 2786 ter codon is taa at posn 848 Protein length after deletion = 847 Total no. of codons in del cdnaseq = 929 last codon in array is ga gaa (E) tca (S) ttc (F) ggg (G) ggg (G) act (T) tct (S) gag (E) aag (K) gaa (E) tca (S) ttc (F) gga (G) ctt (L) ctg (L) aga (R) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gga (G) ctt (L) ctg (L) aga (R) agt (S) tcc (S) aga (R) aaa (K) taa (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 8 840 G 848 * 9 T G 1 eye RB1 c.2520delG p.G840fs*9 eye RB1 1 c.336_340delGATGT p.E112fs*6 length of cdnaseq = 2787 length of protseq = 928 336 340 GATGT 5 112 3 114 1 gatgt Total no. of codons in cdna seq = 929 gag tcg start a-g end t-c ga- -cg frameshift deletion length of cdnaseq after deletion = 2782 ter codon is taa at posn 128 Protein length after deletion = 127 Total no. of codons in del cdnaseq = 928 last codon in array is a gac (D) cta (L) gat (D) gag (E) tcg (S) ttc (F) act (T) tta (L) ctg (L) gac (D) cta (L) gat (D) gac (D) gtt (V) cac (H) ttt (F) original frameshift length = 17 frameshift length = 17 frameshifted sequence: gac (D) gtt (V) cac (H) ttt (F) act (T) gag (E) cta (L) cag (Q) aaa (K) aac (N) ata (I) cga (R) aat (N) cag (Q) tgt (C) cca (P) taa (TER) wild type sequence in deletion region: gag (E) atg (M) tcg (S) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 17 112 E 117 * 6 eye RB1 1 c.369_370delAT p.T123fs*12 length of cdnaseq = 2787 length of protseq = 928 369 370 AT 2 123 3 124 1 at Total no. of codons in cdna seq = 929 aca tac start c-a end t-a ac- -ac frameshift deletion length of cdnaseq after deletion = 2785 ter codon is taa at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 929 last codon in array is a tac (Y) aga (R) aaa (K) aca (T) tac (Y) gaa (E) atc (I) agt (S) gtc (V) tac (Y) aga (R) aaa (K) aca (T) cga (R) aat (N) cag (Q) original frameshift length = 7 frameshift length = 7 frameshifted sequence: aca (T) cga (R) aat (N) cag (Q) tgt (C) cca (P) taa (TER) wild type sequence in deletion region: aca (T) tac (Y) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aca (T) aca (T) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 6 123 T 134 * 12 Y T 1 eye RB1 c.369_370delAT p.T123fs*12 eye RB1 1 c.401_404delTACT p.L134fs*1 length of cdnaseq = 2787 length of protseq = 928 401 404 TACT 4 134 2 135 2 tact Total no. of codons in cdna seq = 929 tta cta start t-t end t-a t-- --a frameshift deletion length of cdnaseq after deletion = 2783 ter codon is taa at posn 134 Protein length after deletion = 133 Total no. of codons in del cdnaseq = 928 last codon in array is ga ttc (F) ttt (F) aac (N) tta (L) cta (L) aaa (K) gaa (E) att (I) gat (D) ttc (F) ttt (F) aac (N) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tta (L) cta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 1 134 L 134 * 1 liver RB1 1 c.1167_1174delAAATTCTG p.L389fs*3 length of cdnaseq = 2787 length of protseq = 928 1167 1174 AAATTCTG 8 389 3 392 1 aaattctg Total no. of codons in cdna seq = 929 tta gca start t-a end g-c tt- -ca frameshift deletion length of cdnaseq after deletion = 2779 ter codon is tga at posn 391 Protein length after deletion = 390 Total no. of codons in del cdnaseq = 927 last codon in array is a atg (M) atg (M) att (I) tta (L) gca (A) agt (S) gat (D) caa (Q) cct (P) atg (M) atg (M) att (I) ttc (F) aag (K) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: ttc (F) aag (K) tga (TER) wild type sequence in deletion region: tta (L) aat (N) tct (S) gca (A) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 3 389 L 391 * 3 liver RB1 1 c.229delA p.T77fs*34 length of cdnaseq = 2787 length of protseq = 928 229 229 A 1 77 1 77 1 a Total no. of codons in cdna seq = 929 act act prev a start a-a end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tag at posn 110 Protein length after deletion = 109 Total no. of codons in del cdnaseq = 929 last codon in array is ga gct (A) tgg (W) tta (L) act (T) act (T) tgg (W) gag (E) aaa (K) gtt (V) gct (A) tgg (W) tta (L) ctt (L) ggg (G) aga (R) aag (K) original frameshift length = 34 frameshift length = 34 frameshifted sequence: ctt (L) ggg (G) aga (R) aag (K) ttt (F) cat (H) ctg (L) tgg (W) atg (M) gag (E) tat (Y) tgg (W) gag (E) gtt (V) ata (I) ttc (F) aaa (K) aga (R) aaa (K) agg (R) aac (N) tgt (C) ggg (G) gaa (E) tct (S) gta (V) tct (S) tta (L) ttg (L) cac (H) gag (E) ttg (L) acc (T) tag (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 34 77 T 110 * 34 lung RB1 1 c.116delC p.P39fs*26 length of cdnaseq = 2787 length of protseq = 928 116 116 C 1 39 2 39 2 c Total no. of codons in cdna seq = 929 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 2786 ter codon is taa at posn 64 Protein length after deletion = 63 Total no. of codons in del cdnaseq = 929 last codon in array is ga gac (D) agc (S) ggc (G) ccg (P) ccg (P) gag (E) gac (D) ctg (L) cct (P) gac (D) agc (S) ggc (G) cgg (R) agg (R) acc (T) tgc (C) original frameshift length = 26 frameshift length = 26 frameshifted sequence: cgg (R) agg (R) acc (T) tgc (C) ctc (L) tcg (S) tca (S) ggc (G) ttg (L) agt (S) ttg (L) aag (K) aaa (K) cag (Q) aag (K) aac (N) ctg (L) att (I) tta (L) ctg (L) cat (H) tat (Y) gtc (V) aga (R) aat (N) taa (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 26 39 P 64 * 26 lung RB1 1 c.1252_1252delA p.R418fs*2 length of cdnaseq = 2787 length of protseq = 928 1252 1252 A 1 418 1 418 1 a Total no. of codons in cdna seq = 929 aga aga prev a start a-a end a-g --- -ga frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tga at posn 419 Protein length after deletion = 418 Total no. of codons in del cdnaseq = 929 last codon in array is ga ata (I) ctg (L) aaa (K) aga (R) aga (R) gtg (V) aag (K) gat (D) ata (I) ata (I) ctg (L) aaa (K) gag (E) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: gag (E) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 2 418 R 419 * 2 lung RB1 1 c.1452_1453delGT p.M484fs*8 length of cdnaseq = 2787 length of protseq = 928 1452 1453 GT 2 484 3 485 1 gt Total no. of codons in cdna seq = 929 atg tct start t-g end t-c at- -ct frameshift deletion length of cdnaseq after deletion = 2785 ter codon is tga at posn 491 Protein length after deletion = 490 Total no. of codons in del cdnaseq = 929 last codon in array is a att (I) ttt (F) cat (H) atg (M) tct (S) tta (L) ttg (L) gcg (A) tgc (C) att (I) ttt (F) cat (H) atc (I) ttt (F) att (I) ggc (G) original frameshift length = 8 frameshift length = 8 frameshifted sequence: atc (I) ttt (F) att (I) ggc (G) gtg (V) cgc (R) tct (S) tga (TER) wild type sequence in deletion region: atg (M) tct (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 8 484 M 491 * 8 lung RB1 1 c.1585delT p.Y529fs*3 length of cdnaseq = 2787 length of protseq = 928 1585 1585 T 1 529 1 529 1 t Total no. of codons in cdna seq = 929 tac tac prev t start t-t end t-a --- -ac frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tga at posn 531 Protein length after deletion = 530 Total no. of codons in del cdnaseq = 929 last codon in array is ga ttt (F) gat (D) ttt (F) tac (Y) tac (Y) aaa (K) gtg (V) atc (I) gaa (E) ttt (F) gat (D) ttt (F) aca (T) aag (K) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aca (T) aag (K) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 3 529 Y 531 * 3 lung RB1 1 c.1848delA p.G617fs*6 length of cdnaseq = 2787 length of protseq = 928 1848 1848 A 1 616 3 616 3 a Total no. of codons in cdna seq = 929 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 2786 ter codon is taa at posn 622 Protein length after deletion = 621 Total no. of codons in del cdnaseq = 929 last codon in array is ga cca (P) aag (K) aaa (K) aaa (K) aaa (K) ggt (G) tca (S) act (T) acg (T) cca (P) aag (K) aaa (K) aag (K) gtt (V) caa (Q) cta (L) original frameshift length = 7 frameshift length = 7 frameshifted sequence: aag (K) gtt (V) caa (Q) cta (L) cgc (R) gtg (V) taa (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 6 617 G 622 * 6 lung RB1 1 c.1981_1984delCGGC p.R661fs*1 length of cdnaseq = 2787 length of protseq = 928 1981 1984 CGGC 4 661 1 662 1 cggc Total no. of codons in cdna seq = 929 cgg cta prev c start c-c end c-t --- -ta frameshift deletion length of cdnaseq after deletion = 2783 ter codon is taa at posn 661 Protein length after deletion = 660 Total no. of codons in del cdnaseq = 928 last codon in array is ga gcc (A) tat (Y) ctc (L) cgg (R) cta (L) aat (N) aca (T) ctt (L) tgt (C) gcc (A) tat (Y) ctc (L) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: cgg (R) cta (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 1 661 R 661 * 1 lung RB1 1 c.2051delT p.F684fs*12 length of cdnaseq = 2787 length of protseq = 928 2051 2051 T 1 684 2 684 2 t Total no. of codons in cdna seq = 929 ttc ttc start t-t end t-c t-- --c frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tga at posn 695 Protein length after deletion = 694 Total no. of codons in del cdnaseq = 929 last codon in array is ga tgg (W) acc (T) ctt (L) ttc (F) ttc (F) cag (Q) cac (H) acc (T) ctg (L) tgg (W) acc (T) ctt (L) tcc (S) agc (S) aca (T) ccc (P) original frameshift length = 12 frameshift length = 12 frameshifted sequence: tcc (S) agc (S) aca (T) ccc (P) tgc (C) aga (R) atg (M) agt (S) atg (M) aac (N) tca (S) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 12 684 F 695 * 12 lung RB1 1 c.2283delG p.M761fs*4 length of cdnaseq = 2787 length of protseq = 928 2283 2283 G 1 761 3 761 3 g Total no. of codons in cdna seq = 929 atg atg start t-g post c end g-c at- --- frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tga at posn 764 Protein length after deletion = 763 Total no. of codons in del cdnaseq = 929 last codon in array is ga tcg (S) gtc (V) ttc (F) atg (M) atg (M) cag (Q) aga (R) ctg (L) aaa (K) tcg (S) gtc (V) ttc (F) atc (I) aga (R) gac (D) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: atc (I) aga (R) gac (D) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 4 761 M 764 * 4 lung RB1 1 c.2330delC p.P777fs*33 length of cdnaseq = 2787 length of protseq = 928 2330 2330 C 1 777 2 777 2 c Total no. of codons in cdna seq = 929 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tga at posn 809 Protein length after deletion = 808 Total no. of codons in del cdnaseq = 929 last codon in array is ga acc (T) agg (R) ccc (P) cct (P) cct (P) acc (T) ttg (L) tca (S) cca (P) acc (T) agg (R) ccc (P) cta (L) cct (P) tgt (C) cac (H) original frameshift length = 33 frameshift length = 33 frameshifted sequence: cta (L) cct (P) tgt (C) cac (H) caa (Q) tac (Y) ctc (L) aca (T) ttc (F) ctc (L) gaa (E) gcc (A) ctt (L) aca (T) agt (S) ttc (F) cta (L) gtt (V) cac (H) cct (P) tac (Y) gga (G) ttc (F) ctg (L) gag (E) gga (G) aca (T) tct (S) ata (I) ttt (F) cac (H) ccc (P) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 33 777 P 809 * 33 lung RB1 1 c.2346delA p.I782fs*28 length of cdnaseq = 2787 length of protseq = 928 2346 2346 A 1 782 3 782 3 a Total no. of codons in cdna seq = 929 ata ata start t-a post c end a-c at- --- frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tga at posn 809 Protein length after deletion = 808 Total no. of codons in del cdnaseq = 929 last codon in array is ga ttg (L) tca (S) cca (P) ata (I) ata (I) cct (P) cac (H) att (I) cct (P) ttg (L) tca (S) cca (P) atc (I) ctc (L) aca (T) ttc (F) original frameshift length = 28 frameshift length = 28 frameshifted sequence: atc (I) ctc (L) aca (T) ttc (F) ctc (L) gaa (E) gcc (A) ctt (L) aca (T) agt (S) ttc (F) cta (L) gtt (V) cac (H) cct (P) tac (Y) gga (G) ttc (F) ctg (L) gag (E) gga (G) aca (T) tct (S) ata (I) ttt (F) cac (H) ccc (P) tga (TER) wild type sequence in deletion region: ata (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ata (I) atc (I) first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 27 782 I 809 * 28 P I 1 lung RB1 c.2346delA p.I782fs*28 lung RB1 1 c.2490_2520del31 p.R830fs*8 length of cdnaseq = 2787 length of protseq = 928 2490 2520 31 31 830 3 840 3 aatcttagtatcaattggtgaatcattcggg Total no. of codons in cdna seq = 929 aga ggg start g-a post a end g-a ag- --- frameshift deletion length of cdnaseq after deletion = 2756 ter codon is taa at posn 838 Protein length after deletion = 837 Total no. of codons in del cdnaseq = 919 last codon in array is ga cca (P) aga (R) tca (S) aga (R) ggg (G) act (T) tct (S) gag (E) aag (K) cca (P) aga (R) tca (S) aga (R) ctt (L) ctg (L) aga (R) original frameshift length = 9 frameshift length = 9 frameshifted sequence: aga (R) ctt (L) ctg (L) aga (R) agt (S) tcc (S) aga (R) aaa (K) taa (TER) wild type sequence in deletion region: aga (R) atc (I) tta (L) gta (V) tca (S) att (I) ggt (G) gaa (E) tca (S) ttc (F) ggg (G) wt frameshift deln region length = 11 matching aa in delstart region of wt and deletion mutant: aga (R) aga (R) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 8 830 R 837 * 8 I R 1 lung RB1 c.2490_2520del31 p.R830fs*8 lung RB1 1 c.2495delT p.L832fs*1 length of cdnaseq = 2787 length of protseq = 928 2495 2495 T 1 832 2 832 2 t Total no. of codons in cdna seq = 929 tta tta start t-t end t-a t-- --a frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tag at posn 832 Protein length after deletion = 831 Total no. of codons in del cdnaseq = 929 last codon in array is ga tca (S) aga (R) atc (I) tta (L) tta (L) gta (V) tca (S) att (I) ggt (G) tca (S) aga (R) atc (I) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 1 832 L 832 * 1 lung RB1 1 c.45_79delTGCCGCCGCGGAACCCCCGGCACCGCCGCCGCCGC p.A16fs*3 length of cdnaseq = 2787 length of protseq = 928 45 79 TGCCGCCGCGGAACCCCCGGCACCGCCGCCGCCGC 35 15 3 27 1 tgccgccgcggaacccccggcaccgccgccgccgc Total no. of codons in cdna seq = 929 gct ccc start c-t end c-c gc- -cc frameshift deletion length of cdnaseq after deletion = 2752 ter codon is tga at posn 18 Protein length after deletion = 17 Total no. of codons in del cdnaseq = 918 last codon in array is a acc (T) gcc (A) gcc (A) gct (A) ccc (P) cct (P) cct (P) gag (E) gag (E) acc (T) gcc (A) gcc (A) gcc (A) ccc (P) tcc (S) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gcc (A) ccc (P) tcc (S) tga (TER) wild type sequence in deletion region: gct (A) gcc (A) gcc (A) gcg (A) gaa (E) ccc (P) ccg (P) gca (A) ccg (P) ccg (P) ccg (P) ccg (P) ccc (P) wt frameshift deln region length = 13 matching aa in delstart region of wt and deletion mutant: gct (A) gcc (A) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 3 16 A 18 * 3 lung RB1 1 c.610delG p.E204fs*10 length of cdnaseq = 2787 length of protseq = 928 610 610 G 1 204 1 204 1 g Total no. of codons in cdna seq = 929 gaa gaa prev g start g-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 929 last codon in array is ga gct (A) aaa (K) ggg (G) gaa (E) gaa (E) gta (V) tta (L) caa (Q) atg (M) gct (A) aaa (K) ggg (G) aag (K) tat (Y) tac (Y) aaa (K) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aag (K) tat (Y) tac (Y) aaa (K) tgg (W) aag (K) atg (M) atc (I) tgg (W) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 10 204 E 213 * 10 prostate RB1 1 c.1537_1538delTC p.S513fs*9 length of cdnaseq = 2787 length of protseq = 928 1537 1538 TC 2 513 1 513 2 tc Total no. of codons in cdna seq = 929 tct tct prev g start g-t end c-t --- --t frameshift deletion length of cdnaseq after deletion = 2785 ter codon is taa at posn 521 Protein length after deletion = 520 Total no. of codons in del cdnaseq = 929 last codon in array is a aca (T) gat (D) ttg (L) tct (S) tct (S) ttc (F) cca (P) tgg (W) att (I) aca (T) gat (D) ttg (L) ttt (F) ccc (P) atg (M) gat (D) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ttt (F) ccc (P) atg (M) gat (D) tct (S) gaa (E) tgt (C) gct (A) taa (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 9 513 S 521 * 9 prostate RB1 1 c.773delA p.N258fs*6 length of cdnaseq = 2787 length of protseq = 928 773 773 A 1 258 2 258 2 a Total no. of codons in cdna seq = 929 aac aac start a-a end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tag at posn 263 Protein length after deletion = 262 Total no. of codons in del cdnaseq = 929 last codon in array is ga cga (R) ggt (G) cag (Q) aac (N) aac (N) agg (R) agt (S) gca (A) cgg (R) cga (R) ggt (G) cag (Q) aca (T) gga (G) gtg (V) cac (H) original frameshift length = 6 frameshift length = 6 frameshifted sequence: aca (T) gga (G) gtg (V) cac (H) gga (G) tag (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 6 258 N 263 * 6 soft_tissue RB1 1 c.1959delA p.V654fs*4 length of cdnaseq = 2787 length of protseq = 928 1959 1959 A 1 653 3 653 3 a Total no. of codons in cdna seq = 929 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tag at posn 657 Protein length after deletion = 656 Total no. of codons in del cdnaseq = 929 last codon in array is ga ttt (F) tat (Y) aaa (K) aaa (K) aaa (K) gtg (V) tat (Y) cgg (R) cta (L) ttt (F) tat (Y) aaa (K) aag (K) tgt (C) atc (I) ggc (G) original frameshift length = 5 frameshift length = 5 frameshifted sequence: aag (K) tgt (C) atc (I) ggc (G) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 4 654 V 657 * 4 soft_tissue RB1 1 c.648delT p.F216fs*3 length of cdnaseq = 2787 length of protseq = 928 648 648 T 1 216 3 216 3 t Total no. of codons in cdna seq = 929 ttt ttt start t-t post c end t-c tt- --- frameshift deletion length of cdnaseq after deletion = 2786 ter codon is taa at posn 218 Protein length after deletion = 217 Total no. of codons in del cdnaseq = 929 last codon in array is ga gtg (V) att (I) tca (S) ttt (F) ttt (F) cag (Q) tta (L) atg (M) cta (L) gtg (V) att (I) tca (S) ttc (F) agt (S) taa (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: ttc (F) agt (S) taa (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttt (F) ttc (F) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 2 216 F 218 * 3 Q F 1 soft_tissue RB1 c.648delT p.F216fs*3 urinary_tract RB1 1 c.1456_1457delTT p.L486fs*6 length of cdnaseq = 2787 length of protseq = 928 1456 1457 TT 2 486 1 486 2 tt Total no. of codons in cdna seq = 929 tta tta prev t start t-t end t-a --- --a frameshift deletion length of cdnaseq after deletion = 2785 ter codon is tga at posn 491 Protein length after deletion = 490 Total no. of codons in del cdnaseq = 929 last codon in array is a cat (H) atg (M) tct (S) tta (L) tta (L) ttg (L) gcg (A) tgc (C) gct (A) cat (H) atg (M) tct (S) att (I) ggc (G) gtg (V) cgc (R) original frameshift length = 6 frameshift length = 6 frameshifted sequence: att (I) ggc (G) gtg (V) cgc (R) tct (S) tga (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 6 486 L 491 * 6 urinary_tract RB1 1 c.2031delA p.E677fs*19 length of cdnaseq = 2787 length of protseq = 928 2031 2031 A 1 677 3 677 3 a Total no. of codons in cdna seq = 929 gaa gaa start a-a post c end a-c ga- --- frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tga at posn 695 Protein length after deletion = 694 Total no. of codons in del cdnaseq = 929 last codon in array is ga cca (P) gaa (E) tta (L) gaa (E) gaa (E) cat (H) atc (I) atc (I) tgg (W) cca (P) gaa (E) tta (L) gac (D) ata (I) tca (S) tct (S) original frameshift length = 19 frameshift length = 19 frameshifted sequence: gac (D) ata (I) tca (S) tct (S) gga (G) ccc (P) ttt (F) tcc (S) agc (S) aca (T) ccc (P) tgc (C) aga (R) atg (M) agt (S) atg (M) aac (N) tca (S) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 19 677 E 695 * 19 central_nervous_system RB1 2 c.1190delC p.S397fs*1 length of cdnaseq = 2787 length of protseq = 928 1190 1190 C 1 397 2 397 2 c Total no. of codons in cdna seq = 929 tca tca start t-c end c-a t-- --a frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tag at posn 397 Protein length after deletion = 396 Total no. of codons in del cdnaseq = 929 last codon in array is ga gat (D) caa (Q) cct (P) tca (S) tca (S) gaa (E) aat (N) ctg (L) att (I) gat (D) caa (Q) cct (P) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tca (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 1 397 S 397 * 1 eye RB1 2 c.1939_1940delCT p.L647fs*5 length of cdnaseq = 2787 length of protseq = 928 1939 1940 CT 2 647 1 647 2 ct Total no. of codons in cdna seq = 929 ctt ctt prev t start t-c end t-t --- --t frameshift deletion length of cdnaseq after deletion = 2785 ter codon is taa at posn 651 Protein length after deletion = 650 Total no. of codons in del cdnaseq = 929 last codon in array is a tct (S) acc (T) tct (S) ctt (L) ctt (L) tca (S) ctg (L) ttt (F) tat (Y) tct (S) acc (T) tct (S) ttc (F) act (T) gtt (V) tta (L) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ttc (F) act (T) gtt (V) tta (L) taa (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 5 647 L 651 * 5 lung RB1 2 c.2028_2040del13 p.L676fs*16 length of cdnaseq = 2787 length of protseq = 928 2028 2040 13 13 676 3 680 3 agaacatatcatc Total no. of codons in cdna seq = 929 tta atc start t-a post t end c-t tt- --- frameshift deletion length of cdnaseq after deletion = 2774 ter codon is tga at posn 691 Protein length after deletion = 690 Total no. of codons in del cdnaseq = 925 last codon in array is ga cac (H) cca (P) gaa (E) tta (L) atc (I) tgg (W) acc (T) ctt (L) ttc (F) cac (H) cca (P) gaa (E) ttt (F) gga (G) ccc (P) ttt (F) original frameshift length = 16 frameshift length = 16 frameshifted sequence: ttt (F) gga (G) ccc (P) ttt (F) tcc (S) agc (S) aca (T) ccc (P) tgc (C) aga (R) atg (M) agt (S) atg (M) aac (N) tca (S) tga (TER) wild type sequence in deletion region: tta (L) gaa (E) cat (H) atc (I) atc (I) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 16 676 L 691 * 16 urinary_tract RB1 2 c.2077delG p.E693fs*3 length of cdnaseq = 2787 length of protseq = 928 2077 2077 G 1 693 1 693 1 g Total no. of codons in cdna seq = 929 gaa gaa prev t start t-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 2786 ter codon is tga at posn 695 Protein length after deletion = 694 Total no. of codons in del cdnaseq = 929 last codon in array is ga aat (N) gag (E) tat (Y) gaa (E) gaa (E) ctc (L) atg (M) aga (R) gac (D) aat (N) gag (E) tat (Y) aac (N) tca (S) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aac (N) tca (S) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 3 693 E 695 * 3 lung RB1 3 c.1980_1983delCCGG p.L660fs*2 length of cdnaseq = 2787 length of protseq = 928 1980 1983 CCGG 4 660 3 661 3 ccgg Total no. of codons in cdna seq = 929 ctc cgg start t-c post c end g-c ct- --- frameshift deletion length of cdnaseq after deletion = 2783 ter codon is taa at posn 661 Protein length after deletion = 660 Total no. of codons in del cdnaseq = 928 last codon in array is ga cta (L) gcc (A) tat (Y) ctc (L) cgg (R) cta (L) aat (N) aca (T) ctt (L) cta (L) gcc (A) tat (Y) ctc (L) taa (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctc (L) taa (TER) wild type sequence in deletion region: ctc (L) cgg (R) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctc (L) ctc (L) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 1 660 L 661 * 2 R L 3 lung RB1 c.1980_1983delCCGG p.L660fs*2 haematopoietic_and_lymphoid_tissue RUNX1 1 c.1014_1014delG p.L339fs*143 length of cdnaseq = 1443 length of protseq = 480 1014 1014 G 1 338 3 338 3 g Total no. of codons in cdna seq = 481 gcg gcg start c-g post c end g-c gc- --- frameshift deletion length of cdnaseq after deletion = 1442 Total no. of codons in del cdnaseq = 481 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 480 cag (Q) ttc (F) ccc (P) gcg (A) gcg (A) ctg (L) ccc (P) tcc (S) atc (I) cag (Q) ttc (F) ccc (P) gcc (A) tgc (C) cct (P) cca (P) original frameshift length = 144 frameshift length = 143 frameshifted sequence: gcc (A) tgc (C) cct (P) cca (P) tct (S) ccg (P) acc (T) ccc (P) gca (A) tgc (C) act (T) atc (I) cag (Q) gcg (A) cct (P) tca (S) cct (P) act (T) ccc (P) cga (R) cgc (R) cgg (R) tca (S) cct (P) cgg (R) gca (A) tcg (S) gca (A) tcg (S) gca (A) tgt (C) cgg (R) cca (P) tgg (W) gct (A) cgg (R) cca (P) cgc (R) gct (A) acc (T) aca (T) cct (P) acc (T) tgc (C) cgc (R) cgc (R) cct (P) acc (T) ccg (P) gct (A) cgt (R) cgc (R) aag (K) cgc (R) agg (R) gag (E) gcc (A) cgt (R) tcc (S) aag (K) cca (P) gct (A) cgc (R) cct (P) cct (P) acc (T) acc (T) tgt (C) act (T) acg (T) gcg (A) cct (P) cgg (R) ccg (P) gct (A) cct (P) acc (T) agt (S) tct (S) cca (P) tgg (W) tgg (W) gcg (A) gcg (A) agc (S) gct (A) cgc (R) cgc (R) cgc (R) gca (A) tcc (S) tgc (C) cgc (R) cct (P) gca (A) cca (P) acg (T) cct (P) cca (P) ccg (P) gct (A) ccg (P) cgc (R) tgc (C) tca (S) acc (T) cca (P) gcc (A) tcc (S) cga (R) acc (T) aga (R) gcg (A) acg (T) tgg (W) tgg (W) agg (R) ccg (P) agg (R) gca (A) gcc (A) aca (T) gca (A) act (T) ccc (P) cca (P) cca (P) aca (T) tgg (W) cgc (R) cct (P) ccg (P) cgc (R) gcc (A) tgg (W) agg (R) agg (R) ccg (P) tgt (C) gga (G) ggc (G) cct (P) act (T) ga (end) wild type sequence in deletion region: gcg (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcg (A) gcc (A) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 142 339 L 481 * 143 haematopoietic_and_lymphoid_tissue RUNX1 1 c.1090_1103del14 p.I364fs*114 length of cdnaseq = 1443 length of protseq = 480 1090 1103 14 14 364 1 368 2 atcggcatcggcat Total no. of codons in cdna seq = 481 atc atg prev c start c-a end t-g --- --g frameshift deletion length of cdnaseq after deletion = 1429 Total no. of codons in del cdnaseq = 477 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 476 acc (T) tcg (S) ggc (G) atc (I) atg (M) tcg (S) gcc (A) atg (M) ggc (G) acc (T) tcg (S) ggc (G) gtc (V) ggc (G) cat (H) ggg (G) original frameshift length = 114 frameshift length = 113 frameshifted sequence: gtc (V) ggc (G) cat (H) ggg (G) ctc (L) ggc (G) cac (H) gcg (A) cta (L) cca (P) cac (H) cta (L) cct (P) gcc (A) gcc (A) gcc (A) cta (L) ccc (P) cgg (R) ctc (L) gtc (V) gca (A) agc (S) gca (A) ggg (G) agg (R) ccc (P) gtt (V) cca (P) agc (S) cag (Q) ctc (L) gcc (A) ctc (L) cta (L) cca (P) cct (P) gta (V) cta (L) cgg (R) cgc (R) ctc (L) ggc (G) cgg (R) ctc (L) cta (L) cca (P) gtt (V) ctc (L) cat (H) ggt (G) ggg (G) cgg (R) cga (R) gcg (A) ctc (L) gcc (A) gcc (A) gcg (A) cat (H) cct (P) gcc (A) gcc (A) ctg (L) cac (H) caa (Q) cgc (R) ctc (L) cac (H) cgg (R) ctc (L) cgc (R) gct (A) gct (A) caa (Q) ccc (P) cag (Q) cct (P) ccc (P) gaa (E) cca (P) gag (E) cga (R) cgt (R) ggt (G) gga (G) ggc (G) cga (R) ggg (G) cag (Q) cca (P) cag (Q) caa (Q) ctc (L) ccc (P) cac (H) caa (Q) cat (H) ggc (G) gcc (A) ctc (L) cgc (R) gcg (A) cct (P) gga (G) gga (G) ggc (G) cgt (R) gtg (V) gag (E) gcc (A) cta (L) ctg (L) a (end) wild type sequence in deletion region: atc (I) ggc (G) atc (I) ggc (G) atg (M) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 113 364 I 477 * 114 haematopoietic_and_lymphoid_tissue RUNX1 1 c.112_166del55 p.R38fs*16 length of cdnaseq = 1443 length of protseq = 480 112 166 55 55 38 1 56 1 cgccgcttcacgccgccttccaccgcgctgagcccaggcaagatgagcgaggcgt Total no. of codons in cdna seq = 481 cgc ttg prev c start c-c end t-t --- -tg frameshift deletion length of cdnaseq after deletion = 1388 ter codon is tga at posn 53 Protein length after deletion = 52 Total no. of codons in del cdnaseq = 463 last codon in array is ga agc (S) acg (T) agc (S) cgc (R) ttg (L) ccg (P) ctg (L) ggc (G) gcc (A) agc (S) acg (T) agc (S) tgc (C) cgc (R) tgg (W) gcg (A) original frameshift length = 16 frameshift length = 16 frameshifted sequence: tgc (C) cgc (R) tgg (W) gcg (A) ccc (P) cgg (R) acg (T) ccg (P) gcg (A) ctg (L) ccc (P) tgg (W) ccg (P) gca (A) agc (S) tga (TER) wild type sequence in deletion region: cgc (R) cgc (R) ttc (F) acg (T) ccg (P) cct (P) tcc (S) acc (T) gcg (A) ctg (L) agc (S) cca (P) ggc (G) aag (K) atg (M) agc (S) gag (E) gcg (A) ttg (L) wt frameshift deln region length = 19 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 16 38 R 53 * 16 haematopoietic_and_lymphoid_tissue RUNX1 1 c.1153_1157delTACCC p.Y385fs*96 length of cdnaseq = 1443 length of protseq = 480 1153 1157 TACCC 5 385 1 386 2 taccc Total no. of codons in cdna seq = 481 tac ccc prev c start c-t end c-c --- --c frameshift deletion length of cdnaseq after deletion = 1438 Total no. of codons in del cdnaseq = 480 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 479 ccg (P) ccg (P) ccc (P) tac (Y) ccc (P) ggc (G) tcg (S) tcg (S) caa (Q) ccg (P) ccg (P) ccc (P) cgg (R) ctc (L) gtc (V) gca (A) original frameshift length = 96 frameshift length = 95 frameshifted sequence: cgg (R) ctc (L) gtc (V) gca (A) agc (S) gca (A) ggg (G) agg (R) ccc (P) gtt (V) cca (P) agc (S) cag (Q) ctc (L) gcc (A) ctc (L) cta (L) cca (P) cct (P) gta (V) cta (L) cgg (R) cgc (R) ctc (L) ggc (G) cgg (R) ctc (L) cta (L) cca (P) gtt (V) ctc (L) cat (H) ggt (G) ggg (G) cgg (R) cga (R) gcg (A) ctc (L) gcc (A) gcc (A) gcg (A) cat (H) cct (P) gcc (A) gcc (A) ctg (L) cac (H) caa (Q) cgc (R) ctc (L) cac (H) cgg (R) ctc (L) cgc (R) gct (A) gct (A) caa (Q) ccc (P) cag (Q) cct (P) ccc (P) gaa (E) cca (P) gag (E) cga (R) cgt (R) ggt (G) gga (G) ggc (G) cga (R) ggg (G) cag (Q) cca (P) cag (Q) caa (Q) ctc (L) ccc (P) cac (H) caa (Q) cat (H) ggc (G) gcc (A) ctc (L) cgc (R) gcg (A) cct (P) gga (G) gga (G) ggc (G) cgt (R) gtg (V) gag (E) gcc (A) cta (L) ctg (L) a (end) wild type sequence in deletion region: tac (Y) ccc (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 95 385 Y 480 * 96 haematopoietic_and_lymphoid_tissue RUNX1 1 c.1172_1176delCGCAG p.A391fs*90 length of cdnaseq = 1443 length of protseq = 480 1172 1176 CGCAG 5 391 2 392 3 cgcag Total no. of codons in cdna seq = 481 gcg cag start g-c post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 1438 Total no. of codons in del cdnaseq = 480 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 479 tcg (S) tcg (S) caa (Q) gcg (A) cag (Q) gga (G) ggc (G) ccg (P) ttc (F) tcg (S) tcg (S) caa (Q) ggg (G) agg (R) ccc (P) gtt (V) original frameshift length = 90 frameshift length = 89 frameshifted sequence: ggg (G) agg (R) ccc (P) gtt (V) cca (P) agc (S) cag (Q) ctc (L) gcc (A) ctc (L) cta (L) cca (P) cct (P) gta (V) cta (L) cgg (R) cgc (R) ctc (L) ggc (G) cgg (R) ctc (L) cta (L) cca (P) gtt (V) ctc (L) cat (H) ggt (G) ggg (G) cgg (R) cga (R) gcg (A) ctc (L) gcc (A) gcc (A) gcg (A) cat (H) cct (P) gcc (A) gcc (A) ctg (L) cac (H) caa (Q) cgc (R) ctc (L) cac (H) cgg (R) ctc (L) cgc (R) gct (A) gct (A) caa (Q) ccc (P) cag (Q) cct (P) ccc (P) gaa (E) cca (P) gag (E) cga (R) cgt (R) ggt (G) gga (G) ggc (G) cga (R) ggg (G) cag (Q) cca (P) cag (Q) caa (Q) ctc (L) ccc (P) cac (H) caa (Q) cat (H) ggc (G) gcc (A) ctc (L) cgc (R) gcg (A) cct (P) gga (G) gga (G) ggc (G) cgt (R) gtg (V) gag (E) gcc (A) cta (L) ctg (L) a (end) wild type sequence in deletion region: gcg (A) cag (Q) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 89 391 A 480 * 90 haematopoietic_and_lymphoid_tissue RUNX1 1 c.119_173del55 p.F40fs*14 length of cdnaseq = 1443 length of protseq = 480 119 173 55 55 40 2 58 2 tcacgccgccttccaccgcgctgagcccaggcaagatgagcgaggcgttgccgct Total no. of codons in cdna seq = 481 ttc ctg start t-t end t-g t-- --g frameshift deletion length of cdnaseq after deletion = 1388 ter codon is tga at posn 53 Protein length after deletion = 52 Total no. of codons in del cdnaseq = 463 last codon in array is ga agc (S) cgc (R) cgc (R) ttc (F) ctg (L) ggc (G) gcc (A) ccg (P) gac (D) agc (S) cgc (R) cgc (R) tgg (W) gcg (A) ccc (P) cgg (R) original frameshift length = 14 frameshift length = 14 frameshifted sequence: tgg (W) gcg (A) ccc (P) cgg (R) acg (T) ccg (P) gcg (A) ctg (L) ccc (P) tgg (W) ccg (P) gca (A) agc (S) tga (TER) wild type sequence in deletion region: ttc (F) acg (T) ccg (P) cct (P) tcc (S) acc (T) gcg (A) ctg (L) agc (S) cca (P) ggc (G) aag (K) atg (M) agc (S) gag (E) gcg (A) ttg (L) ccg (P) ctg (L) wt frameshift deln region length = 19 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 14 40 F 53 * 14 haematopoietic_and_lymphoid_tissue RUNX1 1 c.1256_1266del11 p.V419fs*60 length of cdnaseq = 1443 length of protseq = 480 1256 1266 11 11 419 2 422 3 tgggcggcgag Total no. of codons in cdna seq = 481 gtg gag start g-t post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 1432 Total no. of codons in del cdnaseq = 478 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 477 ttc (F) tcc (S) atg (M) gtg (V) gag (E) cgc (R) tcg (S) ccg (P) ccg (P) ttc (F) tcc (S) atg (M) gcg (A) ctc (L) gcc (A) gcc (A) original frameshift length = 60 frameshift length = 59 frameshifted sequence: gcg (A) ctc (L) gcc (A) gcc (A) gcg (A) cat (H) cct (P) gcc (A) gcc (A) ctg (L) cac (H) caa (Q) cgc (R) ctc (L) cac (H) cgg (R) ctc (L) cgc (R) gct (A) gct (A) caa (Q) ccc (P) cag (Q) cct (P) ccc (P) gaa (E) cca (P) gag (E) cga (R) cgt (R) ggt (G) gga (G) ggc (G) cga (R) ggg (G) cag (Q) cca (P) cag (Q) caa (Q) ctc (L) ccc (P) cac (H) caa (Q) cat (H) ggc (G) gcc (A) ctc (L) cgc (R) gcg (A) cct (P) gga (G) gga (G) ggc (G) cgt (R) gtg (V) gag (E) gcc (A) cta (L) ctg (L) a (end) wild type sequence in deletion region: gtg (V) ggc (G) ggc (G) gag (E) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 59 419 V 478 * 60 haematopoietic_and_lymphoid_tissue RUNX1 1 c.292_292delC p.L98fs*24 length of cdnaseq = 1443 length of protseq = 480 292 292 C 1 98 1 98 1 c Total no. of codons in cdna seq = 481 ctc ctc prev c start c-c end c-t --- -tc frameshift deletion length of cdnaseq after deletion = 1442 ter codon is tag at posn 121 Protein length after deletion = 120 Total no. of codons in del cdnaseq = 481 last codon in array is ga ccc (P) aac (N) ttc (F) ctc (L) ctc (L) tgc (C) tcc (S) gtg (V) ctg (L) ccc (P) aac (N) ttc (F) tct (S) gct (A) ccg (P) tgc (C) original frameshift length = 24 frameshift length = 24 frameshifted sequence: tct (S) gct (A) ccg (P) tgc (C) tgc (C) cta (L) cgc (R) act (T) ggc (G) gct (A) gca (A) aca (T) aga (R) ccc (P) tgc (C) cca (P) tcg (S) ctt (L) tca (S) agg (R) tgg (W) tgg (W) ccc (P) tag (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 24 98 L 121 * 24 haematopoietic_and_lymphoid_tissue RUNX1 1 c.312_313delGC p.H105fs*32 length of cdnaseq = 1443 length of protseq = 480 312 313 GC 2 104 3 105 1 gc Total no. of codons in cdna seq = 481 acg cac start c-g end c-a ac- -ac frameshift deletion length of cdnaseq after deletion = 1441 ter codon is tga at posn 136 Protein length after deletion = 135 Total no. of codons in del cdnaseq = 481 last codon in array is a gtg (V) ctg (L) cct (P) acg (T) cac (H) tgg (W) cgc (R) tgc (C) aac (N) gtg (V) ctg (L) cct (P) aca (T) ctg (L) gcg (A) ctg (L) original frameshift length = 33 frameshift length = 33 frameshifted sequence: aca (T) ctg (L) gcg (A) ctg (L) caa (Q) caa (Q) gac (D) cct (P) gcc (A) cat (H) cgc (R) ttt (F) caa (Q) ggt (G) ggt (G) ggc (G) cct (P) agg (R) gga (G) tgt (C) tcc (S) aga (R) tgg (W) cac (H) tct (S) ggt (G) cac (H) tgt (C) gat (D) ggc (G) tgg (W) caa (Q) tga (TER) wild type sequence in deletion region: acg (T) cac (H) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: acg (T) aca (T) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 32 105 H 136 * 32 haematopoietic_and_lymphoid_tissue RUNX1 1 c.373_373delC p.P125fs*8 length of cdnaseq = 1443 length of protseq = 480 373 373 C 1 125 1 125 1 c Total no. of codons in cdna seq = 481 cca cca prev t start t-c end c-c --- -ca frameshift deletion length of cdnaseq after deletion = 1442 ter codon is tga at posn 132 Protein length after deletion = 131 Total no. of codons in del cdnaseq = 481 last codon in array is ga ggg (G) gat (D) gtt (V) cca (P) cca (P) gat (D) ggc (G) act (T) ctg (L) ggg (G) gat (D) gtt (V) cag (Q) atg (M) gca (A) ctc (L) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cag (Q) atg (M) gca (A) ctc (L) tgg (W) tca (S) ctg (L) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 8 125 P 132 * 8 haematopoietic_and_lymphoid_tissue RUNX1 1 c.422_422delC p.S141fs*4 length of cdnaseq = 1443 length of protseq = 480 422 422 C 1 141 2 141 2 c Total no. of codons in cdna seq = 481 tcg tcg start t-c end c-g t-- --g frameshift deletion length of cdnaseq after deletion = 1442 ter codon is tga at posn 144 Protein length after deletion = 143 Total no. of codons in del cdnaseq = 481 last codon in array is ga gaa (E) aac (N) tac (Y) tcg (S) tcg (S) gct (A) gag (E) ctg (L) aga (R) gaa (E) aac (N) tac (Y) tgg (W) ctg (L) agc (S) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tgg (W) ctg (L) agc (S) tga (TER) wild type sequence in deletion region: tcg (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tcg (S) final frameshift length = 4 141 S 144 * 4 haematopoietic_and_lymphoid_tissue RUNX1 1 c.469_469delA p.R157fs*19 length of cdnaseq = 1443 length of protseq = 480 469 469 A 1 157 1 157 1 a Total no. of codons in cdna seq = 481 aga aga prev a start a-a end a-g --- -ga frameshift deletion length of cdnaseq after deletion = 1442 ter codon is tga at posn 175 Protein length after deletion = 174 Total no. of codons in del cdnaseq = 481 last codon in array is ga cag (Q) gtt (V) gca (A) aga (R) aga (R) ttt (F) aat (N) gac (D) ctc (L) cag (Q) gtt (V) gca (A) gat (D) tta (L) atg (M) acc (T) original frameshift length = 19 frameshift length = 19 frameshifted sequence: gat (D) tta (L) atg (M) acc (T) tca (S) ggt (G) ttg (L) tcg (S) gtc (V) gaa (E) gtg (V) gaa (E) gag (E) gga (G) aaa (K) gct (A) tca (S) ctc (L) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 19 157 R 175 * 19 haematopoietic_and_lymphoid_tissue RUNX1 1 c.474_487del14 p.N159fs*49 length of cdnaseq = 1443 length of protseq = 480 474 487 14 14 158 3 163 1 taatgacctcaggt Total no. of codons in cdna seq = 481 ttt ttt start t-t end t-t tt- -tt frameshift deletion length of cdnaseq after deletion = 1429 ter codon is tga at posn 207 Protein length after deletion = 206 Total no. of codons in del cdnaseq = 477 last codon in array is a gtt (V) gca (A) aga (R) ttt (F) ttt (F) gtc (V) ggt (G) cga (R) agt (S) gtt (V) gca (A) aga (R) ttt (F) tgt (C) cgg (R) tcg (S) original frameshift length = 50 frameshift length = 50 frameshifted sequence: ttt (F) tgt (C) cgg (R) tcg (S) aag (K) tgg (W) aag (K) agg (R) gaa (E) aag (K) ctt (L) cac (H) tct (S) gac (D) cat (H) cac (H) tgt (C) ctt (L) cac (H) aaa (K) ccc (P) acc (T) gca (A) agt (S) cgc (R) cac (H) cta (L) cca (P) cag (Q) agc (S) cat (H) caa (Q) aat (N) cac (H) agt (S) gga (G) tgg (W) gcc (A) ccg (P) aga (R) acc (T) tcg (S) aag (K) aca (T) tcg (S) gca (A) gaa (E) act (T) aga (R) tga (TER) wild type sequence in deletion region: ttt (F) aat (N) gac (D) ctc (L) agg (R) ttt (F) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: ttt (F) ttt (F) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 49 159 N 207 * 49 haematopoietic_and_lymphoid_tissue RUNX1 1 c.712_712delG p.V238fs*16 length of cdnaseq = 1443 length of protseq = 480 712 712 G 1 238 1 238 1 g Total no. of codons in cdna seq = 481 gtc gtc prev g start g-g end g-t --- -tc frameshift deletion length of cdnaseq after deletion = 1442 ter codon is tga at posn 253 Protein length after deletion = 252 Total no. of codons in del cdnaseq = 481 last codon in array is ga gcc (A) atg (M) agg (R) gtc (V) gtc (V) agc (S) cca (P) cac (H) cac (H) gcc (A) atg (M) agg (R) tca (S) gcc (A) cac (H) acc (T) original frameshift length = 16 frameshift length = 16 frameshifted sequence: tca (S) gcc (A) cac (H) acc (T) acc (T) cag (Q) ccc (P) cca (P) cgc (R) cca (P) acc (T) ctc (L) gtg (V) cct (P) ccc (P) tga (TER) wild type sequence in deletion region: gtc (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 16 238 V 253 * 16 haematopoietic_and_lymphoid_tissue RUNX1 1 c.776_789del14 p.F259fs*219 length of cdnaseq = 1443 length of protseq = 480 776 789 14 14 259 2 263 3 ttaaccctcagcct Total no. of codons in cdna seq = 481 ttt cct start t-t post c end t-c t-- --- frameshift deletion length of cdnaseq after deletion = 1429 Total no. of codons in del cdnaseq = 477 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 476 tcc (S) act (T) gcc (A) ttt (F) cct (P) cag (Q) agt (S) cag (Q) atg (M) tcc (S) act (T) gcc (A) tca (S) gag (E) tca (S) gat (D) original frameshift length = 219 frameshift length = 218 frameshifted sequence: tca (S) gag (E) tca (S) gat (D) gca (A) gga (G) tac (Y) aag (K) gca (A) gat (D) cca (P) acc (T) atc (I) ccc (P) acc (T) gtg (V) gtc (V) cta (L) cga (R) tca (S) gtc (V) cta (L) cca (P) ata (I) cct (P) ggg (G) atc (I) cat (H) tgc (C) ctc (L) tcc (S) ttc (F) tgt (C) gca (A) ccc (P) agc (S) aac (N) gcc (A) cat (H) ttc (F) acc (T) tgg (W) acg (T) tgc (C) cag (Q) cgg (R) cat (H) gac (D) aac (N) cct (P) ctc (L) tgc (C) aga (R) act (T) ttc (F) cag (Q) tcg (S) act (T) ctc (L) aac (N) ggc (G) acc (T) cga (R) cct (P) gac (D) agc (S) gtt (V) cag (Q) cga (R) ccc (P) gcg (A) cca (P) gtt (V) ccc (P) cgc (R) gct (A) gcc (A) ctc (L) cat (H) ctc (L) cga (R) ccc (P) ccg (P) cat (H) gca (A) cta (L) tcc (S) agg (R) cgc (R) ctt (L) cac (H) cta (L) ctc (L) ccc (P) gac (D) gcc (A) ggt (G) cac (H) ctc (L) ggg (G) cat (H) cgg (R) cat (H) cgg (R) cat (H) gtc (V) ggc (G) cat (H) ggg (G) ctc (L) ggc (G) cac (H) gcg (A) cta (L) cca (P) cac (H) cta (L) cct (P) gcc (A) gcc (A) gcc (A) cta (L) ccc (P) cgg (R) ctc (L) gtc (V) gca (A) agc (S) gca (A) ggg (G) agg (R) ccc (P) gtt (V) cca (P) agc (S) cag (Q) ctc (L) gcc (A) ctc (L) cta (L) cca (P) cct (P) gta (V) cta (L) cgg (R) cgc (R) ctc (L) ggc (G) cgg (R) ctc (L) cta (L) cca (P) gtt (V) ctc (L) cat (H) ggt (G) ggg (G) cgg (R) cga (R) gcg (A) ctc (L) gcc (A) gcc (A) gcg (A) cat (H) cct (P) gcc (A) gcc (A) ctg (L) cac (H) caa (Q) cgc (R) ctc (L) cac (H) cgg (R) ctc (L) cgc (R) gct (A) gct (A) caa (Q) ccc (P) cag (Q) cct (P) ccc (P) gaa (E) cca (P) gag (E) cga (R) cgt (R) ggt (G) gga (G) ggc (G) cga (R) ggg (G) cag (Q) cca (P) cag (Q) caa (Q) ctc (L) ccc (P) cac (H) caa (Q) cat (H) ggc (G) gcc (A) ctc (L) cgc (R) gcg (A) cct (P) gga (G) gga (G) ggc (G) cgt (R) gtg (V) gag (E) gcc (A) cta (L) ctg (L) a (end) wild type sequence in deletion region: ttt (F) aac (N) cct (P) cag (Q) cct (P) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 218 259 F 477 * 219 haematopoietic_and_lymphoid_tissue RUNX1 1 c.777_777delT p.F259fs*52 length of cdnaseq = 1443 length of protseq = 480 777 777 T 1 259 3 259 3 t Total no. of codons in cdna seq = 481 ttt ttt start t-t post a end t-a tt- --- frameshift deletion length of cdnaseq after deletion = 1442 ter codon is tga at posn 310 Protein length after deletion = 309 Total no. of codons in del cdnaseq = 481 last codon in array is ga tcc (S) act (T) gcc (A) ttt (F) ttt (F) aac (N) cct (P) cag (Q) cct (P) tcc (S) act (T) gcc (A) tta (L) acc (T) ctc (L) agc (S) original frameshift length = 52 frameshift length = 52 frameshifted sequence: tta (L) acc (T) ctc (L) agc (S) ctc (L) aga (R) gtc (V) aga (R) tgc (C) agg (R) ata (I) caa (Q) ggc (G) aga (R) tcc (S) aac (N) cat (H) ccc (P) cac (H) cgt (R) ggt (G) cct (P) acg (T) atc (I) agt (S) cct (P) acc (T) aat (N) acc (T) tgg (W) gat (D) cca (P) ttg (L) cct (P) ctc (L) ctt (L) ctg (L) tgc (C) acc (T) cag (Q) caa (Q) cgc (R) cca (P) ttt (F) cac (H) ctg (L) gac (D) gtg (V) cca (P) gcg (A) gca (A) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 52 259 F 310 * 52 haematopoietic_and_lymphoid_tissue RUNX1 1 c.941_942delCT p.S314fs*168 length of cdnaseq = 1443 length of protseq = 480 941 942 CT 2 314 2 314 3 ct Total no. of codons in cdna seq = 481 tct tct start t-c post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 1441 Total no. of codons in del cdnaseq = 481 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 480 aca (T) acc (T) ctc (L) tct (S) tct (S) gca (A) gaa (E) ctt (L) tcc (S) aca (T) acc (T) ctc (L) tgc (C) aga (R) act (T) ttc (F) original frameshift length = 168 frameshift length = 167 frameshifted sequence: tgc (C) aga (R) act (T) ttc (F) cag (Q) tcg (S) act (T) ctc (L) aac (N) ggc (G) acc (T) cga (R) cct (P) gac (D) agc (S) gtt (V) cag (Q) cga (R) ccc (P) gcg (A) cca (P) gtt (V) ccc (P) cgc (R) gct (A) gcc (A) ctc (L) cat (H) ctc (L) cga (R) ccc (P) ccg (P) cat (H) gca (A) cta (L) tcc (S) agg (R) cgc (R) ctt (L) cac (H) cta (L) ctc (L) ccc (P) gac (D) gcc (A) ggt (G) cac (H) ctc (L) ggg (G) cat (H) cgg (R) cat (H) cgg (R) cat (H) gtc (V) ggc (G) cat (H) ggg (G) ctc (L) ggc (G) cac (H) gcg (A) cta (L) cca (P) cac (H) cta (L) cct (P) gcc (A) gcc (A) gcc (A) cta (L) ccc (P) cgg (R) ctc (L) gtc (V) gca (A) agc (S) gca (A) ggg (G) agg (R) ccc (P) gtt (V) cca (P) agc (S) cag (Q) ctc (L) gcc (A) ctc (L) cta (L) cca (P) cct (P) gta (V) cta (L) cgg (R) cgc (R) ctc (L) ggc (G) cgg (R) ctc (L) cta (L) cca (P) gtt (V) ctc (L) cat (H) ggt (G) ggg (G) cgg (R) cga (R) gcg (A) ctc (L) gcc (A) gcc (A) gcg (A) cat (H) cct (P) gcc (A) gcc (A) ctg (L) cac (H) caa (Q) cgc (R) ctc (L) cac (H) cgg (R) ctc (L) cgc (R) gct (A) gct (A) caa (Q) ccc (P) cag (Q) cct (P) ccc (P) gaa (E) cca (P) gag (E) cga (R) cgt (R) ggt (G) gga (G) ggc (G) cga (R) ggg (G) cag (Q) cca (P) cag (Q) caa (Q) ctc (L) ccc (P) cac (H) caa (Q) cat (H) ggc (G) gcc (A) ctc (L) cgc (R) gcg (A) cct (P) gga (G) gga (G) ggc (G) cgt (R) gtg (V) gag (E) gcc (A) cta (L) ctg (L) a (end) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 167 314 S 481 * 168 haematopoietic_and_lymphoid_tissue RUNX1 1 c.952_952delT p.S318fs*10 length of cdnaseq = 1443 length of protseq = 480 952 952 T 1 318 1 318 1 t Total no. of codons in cdna seq = 481 tcc tcc prev t start t-t end t-c --- -cc frameshift deletion length of cdnaseq after deletion = 1442 ter codon is tga at posn 327 Protein length after deletion = 326 Total no. of codons in del cdnaseq = 481 last codon in array is ga gca (A) gaa (E) ctt (L) tcc (S) tcc (S) agt (S) cga (R) ctc (L) tca (S) gca (A) gaa (E) ctt (L) cca (P) gtc (V) gac (D) tct (S) original frameshift length = 10 frameshift length = 10 frameshifted sequence: cca (P) gtc (V) gac (D) tct (S) caa (Q) cgg (R) cac (H) ccg (P) acc (T) tga (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 10 318 S 327 * 10 haematopoietic_and_lymphoid_tissue RUNX1 1 c.964_965delTC p.S322fs*160 length of cdnaseq = 1443 length of protseq = 480 964 965 TC 2 322 1 322 2 tc Total no. of codons in cdna seq = 481 tca tca prev c start c-t end c-a --- --a frameshift deletion length of cdnaseq after deletion = 1441 Total no. of codons in del cdnaseq = 481 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 480 agt (S) cga (R) ctc (L) tca (S) tca (S) acg (T) gca (A) ccc (P) gac (D) agt (S) cga (R) ctc (L) aac (N) ggc (G) acc (T) cga (R) original frameshift length = 160 frameshift length = 159 frameshifted sequence: aac (N) ggc (G) acc (T) cga (R) cct (P) gac (D) agc (S) gtt (V) cag (Q) cga (R) ccc (P) gcg (A) cca (P) gtt (V) ccc (P) cgc (R) gct (A) gcc (A) ctc (L) cat (H) ctc (L) cga (R) ccc (P) ccg (P) cat (H) gca (A) cta (L) tcc (S) agg (R) cgc (R) ctt (L) cac (H) cta (L) ctc (L) ccc (P) gac (D) gcc (A) ggt (G) cac (H) ctc (L) ggg (G) cat (H) cgg (R) cat (H) cgg (R) cat (H) gtc (V) ggc (G) cat (H) ggg (G) ctc (L) ggc (G) cac (H) gcg (A) cta (L) cca (P) cac (H) cta (L) cct (P) gcc (A) gcc (A) gcc (A) cta (L) ccc (P) cgg (R) ctc (L) gtc (V) gca (A) agc (S) gca (A) ggg (G) agg (R) ccc (P) gtt (V) cca (P) agc (S) cag (Q) ctc (L) gcc (A) ctc (L) cta (L) cca (P) cct (P) gta (V) cta (L) cgg (R) cgc (R) ctc (L) ggc (G) cgg (R) ctc (L) cta (L) cca (P) gtt (V) ctc (L) cat (H) ggt (G) ggg (G) cgg (R) cga (R) gcg (A) ctc (L) gcc (A) gcc (A) gcg (A) cat (H) cct (P) gcc (A) gcc (A) ctg (L) cac (H) caa (Q) cgc (R) ctc (L) cac (H) cgg (R) ctc (L) cgc (R) gct (A) gct (A) caa (Q) ccc (P) cag (Q) cct (P) ccc (P) gaa (E) cca (P) gag (E) cga (R) cgt (R) ggt (G) gga (G) ggc (G) cga (R) ggg (G) cag (Q) cca (P) cag (Q) caa (Q) ctc (L) ccc (P) cac (H) caa (Q) cat (H) ggc (G) gcc (A) ctc (L) cgc (R) gcg (A) cct (P) gga (G) gga (G) ggc (G) cgt (R) gtg (V) gag (E) gcc (A) cta (L) ctg (L) a (end) wild type sequence in deletion region: tca (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tca (S) final frameshift length = 159 322 S 481 * 160 lung RUNX1 1 c.1349_1352delGCGA p.S450fs*30 length of cdnaseq = 1443 length of protseq = 480 1349 1352 GCGA 4 450 2 451 2 gcga Total no. of codons in cdna seq = 481 agc gac start a-g end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 1439 Total no. of codons in del cdnaseq = 480 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 479 ccg (P) aac (N) cag (Q) agc (S) gac (D) gtg (V) gtg (V) gag (E) gcc (A) ccg (P) aac (N) cag (Q) acg (T) tgg (W) tgg (W) agg (R) original frameshift length = 31 frameshift length = 30 frameshifted sequence: acg (T) tgg (W) tgg (W) agg (R) ccg (P) agg (R) gca (A) gcc (A) aca (T) gca (A) act (T) ccc (P) cca (P) cca (P) aca (T) tgg (W) cgc (R) cct (P) ccg (P) cgc (R) gcc (A) tgg (W) agg (R) agg (R) ccg (P) tgt (C) gga (G) ggc (G) cct (P) act (T) ga (end) wild type sequence in deletion region: agc (S) gac (D) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 30 450 S 479 * 30 haematopoietic_and_lymphoid_tissue RUNX1 2 c.358_358delG p.A120fs*2 length of cdnaseq = 1443 length of protseq = 480 358 358 G 1 120 1 120 1 g Total no. of codons in cdna seq = 481 gcc gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1442 ter codon is tag at posn 121 Protein length after deletion = 120 Total no. of codons in del cdnaseq = 481 last codon in array is ga aag (K) gtg (V) gtg (V) gcc (A) gcc (A) cta (L) ggg (G) gat (D) gtt (V) aag (K) gtg (V) gtg (V) ccc (P) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ccc (P) tag (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 2 120 A 121 * 2 haematopoietic_and_lymphoid_tissue RUNX1 3 c.291_291delC p.L98fs*24 length of cdnaseq = 1443 length of protseq = 480 291 291 C 1 97 3 97 3 c Total no. of codons in cdna seq = 481 ttc ttc start t-c post c end c-c tt- --- frameshift deletion length of cdnaseq after deletion = 1442 ter codon is tag at posn 121 Protein length after deletion = 120 Total no. of codons in del cdnaseq = 481 last codon in array is ga agc (S) ccc (P) aac (N) ttc (F) ttc (F) ctc (L) tgc (C) tcc (S) gtg (V) agc (S) ccc (P) aac (N) ttc (F) tct (S) gct (A) ccg (P) original frameshift length = 25 frameshift length = 25 frameshifted sequence: ttc (F) tct (S) gct (A) ccg (P) tgc (C) tgc (C) cta (L) cgc (R) act (T) ggc (G) gct (A) gca (A) aca (T) aga (R) ccc (P) tgc (C) cca (P) tcg (S) ctt (L) tca (S) agg (R) tgg (W) tgg (W) ccc (P) tag (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ttc (F) ttc (F) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 24 98 L 121 * 24 large_intestine SMAD4 1 c.1134_1135delAG p.R378fs*14 length of cdnaseq = 1659 length of protseq = 552 1134 1135 AG 2 378 3 379 1 ag Total no. of codons in cdna seq = 553 aga gca start g-a end g-c ag- -ca frameshift deletion length of cdnaseq after deletion = 1657 ter codon is taa at posn 391 Protein length after deletion = 390 Total no. of codons in del cdnaseq = 553 last codon in array is a gcc (A) att (I) gag (E) aga (R) gca (A) agg (R) ttg (L) cac (H) ata (I) gcc (A) att (I) gag (E) agc (S) aag (K) gtt (V) gca (A) original frameshift length = 14 frameshift length = 14 frameshifted sequence: agc (S) aag (K) gtt (V) gca (A) cat (H) agg (R) caa (Q) agg (R) tgt (C) gca (A) gtt (V) gga (G) atg (M) taa (TER) wild type sequence in deletion region: aga (R) gca (A) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 14 378 R 391 * 14 large_intestine SMAD4 1 c.1349_1376del28 p.Q450fs*17 length of cdnaseq = 1659 length of protseq = 552 1349 1376 28 28 450 2 459 2 aggcggctactgcacaagctgcagcagc Total no. of codons in cdna seq = 553 cag gct start c-a end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1631 ter codon is tag at posn 466 Protein length after deletion = 465 Total no. of codons in del cdnaseq = 544 last codon in array is ga atg (M) cag (Q) cag (Q) cag (Q) gct (A) gcc (A) cag (Q) gca (A) gca (A) atg (M) cag (Q) cag (Q) ctg (L) ccc (P) agg (R) cag (Q) original frameshift length = 17 frameshift length = 17 frameshifted sequence: ctg (L) ccc (P) agg (R) cag (Q) cag (Q) ccg (P) tgg (W) cag (Q) gaa (E) aca (T) tcc (S) ctg (L) gcc (A) cag (Q) gat (D) cag (Q) tag (TER) wild type sequence in deletion region: cag (Q) gcg (A) gct (A) act (T) gca (A) caa (Q) gct (A) gca (A) gca (A) gct (A) wt frameshift deln region length = 10 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 17 450 Q 466 * 17 large_intestine SMAD4 1 c.1607_1626del20 p.L536fs*11 length of cdnaseq = 1659 length of protseq = 552 1607 1626 20 20 536 2 542 3 tagacgaagtacttcatacc Total no. of codons in cdna seq = 553 cta acc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 1639 Total no. of codons in del cdnaseq = 547 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 546 ctc (L) cag (Q) ctc (L) cta (L) acc (T) atg (M) ccg (P) att (I) gca (A) ctc (L) cag (Q) ctc (L) cat (H) gcc (A) gat (D) tgc (C) original frameshift length = 12 frameshift length = 11 frameshifted sequence: cat (H) gcc (A) gat (D) tgc (C) aga (R) ccc (P) aca (T) acc (T) ttt (F) aga (R) ctg (L) a (end) wild type sequence in deletion region: cta (L) gac (D) gaa (E) gta (V) ctt (L) cat (H) acc (T) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : cta (L) final frameshift length = 11 536 L 546 * 11 large_intestine SMAD4 1 c.978delT p.I326fs*10 length of cdnaseq = 1659 length of protseq = 552 978 978 T 1 326 3 326 3 t Total no. of codons in cdna seq = 553 att att start t-t post g end t-g at- --- frameshift deletion length of cdnaseq after deletion = 1658 ter codon is tag at posn 335 Protein length after deletion = 334 Total no. of codons in del cdnaseq = 553 last codon in array is ga tgg (W) tgt (C) tcc (S) att (I) att (I) gct (A) tac (Y) ttt (F) gaa (E) tgg (W) tgt (C) tcc (S) atg (M) ctt (L) act (T) ttg (L) original frameshift length = 10 frameshift length = 10 frameshifted sequence: atg (M) ctt (L) act (T) ttg (L) aaa (K) tgg (W) atg (M) ttc (F) agg (R) tag (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 10 326 I 335 * 10 lung SMAD4 1 c.1606_1612delCTAGACG p.L536fs*14 length of cdnaseq = 1659 length of protseq = 552 1606 1612 CTAGACG 7 536 1 538 1 ctagacg Total no. of codons in cdna seq = 553 cta gaa prev c start c-c end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 1652 ter codon is tag at posn 549 Protein length after deletion = 548 Total no. of codons in del cdnaseq = 551 last codon in array is ga ctc (L) cag (Q) ctc (L) cta (L) gaa (E) gta (V) ctt (L) cat (H) acc (T) ctc (L) cag (Q) ctc (L) aag (K) tac (Y) ttc (F) ata (I) original frameshift length = 14 frameshift length = 14 frameshifted sequence: aag (K) tac (Y) ttc (F) ata (I) cca (P) tgc (C) cga (R) ttg (L) cag (Q) acc (T) cac (H) aac (N) ctt (L) tag (TER) wild type sequence in deletion region: cta (L) gac (D) gaa (E) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : cta (L) final frameshift length = 14 536 L 549 * 14 lung SMAD4 1 c.607_608delCC p.P203fs*2 length of cdnaseq = 1659 length of protseq = 552 607 608 CC 2 203 1 203 2 cc Total no. of codons in cdna seq = 553 cca cca prev c start c-c end c-a --- --a frameshift deletion length of cdnaseq after deletion = 1657 ter codon is tga at posn 204 Protein length after deletion = 203 Total no. of codons in del cdnaseq = 553 last codon in array is a ctg (L) tta (L) gcc (A) cca (P) cca (P) tct (S) gag (E) tct (S) aat (N) ctg (L) tta (L) gcc (A) atc (I) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: atc (I) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 2 203 P 204 * 2 pancreas SMAD4 1 c.1320_1377del58 p.R441fs*16 length of cdnaseq = 1659 length of protseq = 552 1320 1377 58 58 440 3 459 3 gcgtcagtgtcatcgacagatgcagcagcaggcggctactgcacaagctgcagcagct Total no. of codons in cdna seq = 553 ttg gct start t-g post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 1601 ter codon is tag at posn 456 Protein length after deletion = 455 Total no. of codons in del cdnaseq = 534 last codon in array is ga gtc (V) ttt (F) gat (D) ttg (L) gct (A) gcc (A) cag (Q) gca (A) gca (A) gtc (V) ttt (F) gat (D) ttg (L) ccc (P) agg (R) cag (Q) original frameshift length = 17 frameshift length = 17 frameshifted sequence: ttg (L) ccc (P) agg (R) cag (Q) cag (Q) ccg (P) tgg (W) cag (Q) gaa (E) aca (T) tcc (S) ctg (L) gcc (A) cag (Q) gat (D) cag (Q) tag (TER) wild type sequence in deletion region: ttg (L) cgt (R) cag (Q) tgt (C) cat (H) cga (R) cag (Q) atg (M) cag (Q) cag (Q) cag (Q) gcg (A) gct (A) act (T) gca (A) caa (Q) gct (A) gca (A) gca (A) gct (A) wt frameshift deln region length = 20 matching aa in delstart region of wt and deletion mutant: ttg (L) ttg (L) first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 16 441 R 456 * 16 pancreas SMAD4 1 c.1543_1543delA p.R515fs*22 length of cdnaseq = 1659 length of protseq = 552 1543 1543 A 1 515 1 515 1 a Total no. of codons in cdna seq = 553 aga aga prev a start a-a end a-g --- -ga frameshift deletion length of cdnaseq after deletion = 1658 ter codon is tag at posn 536 Protein length after deletion = 535 Total no. of codons in del cdnaseq = 553 last codon in array is ga gat (D) tac (Y) cca (P) aga (R) aga (R) cag (Q) agc (S) atc (I) aaa (K) gat (D) tac (Y) cca (P) gac (D) aga (R) gca (A) tca (S) original frameshift length = 22 frameshift length = 22 frameshifted sequence: gac (D) aga (R) gca (A) tca (S) aag (K) aaa (K) cac (H) ctt (L) gct (A) gga (G) ttg (L) aaa (K) ttc (F) act (T) tac (Y) acc (T) ggg (G) ccc (P) tcc (S) agc (S) tcc (S) tag (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 22 515 R 536 * 22 pancreas SMAD4 1 c.1583_1586delACTT p.L529fs*7 length of cdnaseq = 1659 length of protseq = 552 1583 1586 ACTT 4 528 2 529 2 actt Total no. of codons in cdna seq = 553 cac tta start c-a end t-a c-- --a frameshift deletion length of cdnaseq after deletion = 1655 ter codon is tag at posn 535 Protein length after deletion = 534 Total no. of codons in del cdnaseq = 552 last codon in array is ga att (I) gaa (E) att (I) cac (H) tta (L) cac (H) cgg (R) gcc (A) ctc (L) att (I) gaa (E) att (I) cac (H) acc (T) ggg (G) ccc (P) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cac (H) acc (T) ggg (G) ccc (P) tcc (S) agc (S) tcc (S) tag (TER) wild type sequence in deletion region: cac (H) tta (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cac (H) cac (H) first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 7 529 L 535 * 7 pancreas SMAD4 1 c.484_485delTA p.Y162fs*3 length of cdnaseq = 1659 length of protseq = 552 484 485 TA 2 162 1 162 2 ta Total no. of codons in cdna seq = 553 tat tat prev a start a-t end a-t --- --t frameshift deletion length of cdnaseq after deletion = 1657 ter codon is tga at posn 164 Protein length after deletion = 163 Total no. of codons in del cdnaseq = 553 last codon in array is a aag (K) gat (D) gaa (E) tat (Y) tat (Y) gtg (V) cat (H) gac (D) ttt (F) aag (K) gat (D) gaa (E) tgt (C) gca (A) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tgt (C) gca (A) tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 3 162 Y 164 * 3 pancreas SMAD4 1 c.585delC p.Y195fs*1 length of cdnaseq = 1659 length of protseq = 552 585 585 C 1 195 3 195 3 c Total no. of codons in cdna seq = 553 tac tac start a-c post a end c-a ta- --- frameshift deletion length of cdnaseq after deletion = 1658 ter codon is taa at posn 195 Protein length after deletion = 194 Total no. of codons in del cdnaseq = 553 last codon in array is ga aca (T) gag (E) aca (T) tac (Y) tac (Y) agc (S) acc (T) cca (P) gct (A) aca (T) gag (E) aca (T) taa (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: taa (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 1 195 Y 195 * 1 pancreas SMAD4 1 c.776_777delCT p.T259fs*4 length of cdnaseq = 1659 length of protseq = 552 776 777 CT 2 259 2 259 3 ct Total no. of codons in cdna seq = 553 act act start a-c post t end t-t a-- --- frameshift deletion length of cdnaseq after deletion = 1657 ter codon is taa at posn 262 Protein length after deletion = 261 Total no. of codons in del cdnaseq = 553 last codon in array is a cag (Q) cca (P) gct (A) act (T) act (T) tac (Y) cat (H) cat (H) aac (N) cag (Q) cca (P) gct (A) ata (I) cca (P) tca (S) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: ata (I) cca (P) tca (S) taa (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 4 259 T 262 * 4 small_intestine SMAD4 1 c.968_974delGGTGTTC p.W323fs*11 length of cdnaseq = 1659 length of protseq = 552 968 974 GGTGTTC 7 323 2 325 2 ggtgttc Total no. of codons in cdna seq = 553 tgg tcc start t-g end c-c t-- --c frameshift deletion length of cdnaseq after deletion = 1652 ter codon is tag at posn 333 Protein length after deletion = 332 Total no. of codons in del cdnaseq = 551 last codon in array is ga cct (P) gag (E) tat (Y) tgg (W) tcc (S) att (I) gct (A) tac (Y) ttt (F) cct (P) gag (E) tat (Y) tca (S) ttg (L) ctt (L) act (T) original frameshift length = 11 frameshift length = 11 frameshifted sequence: tca (S) ttg (L) ctt (L) act (T) ttg (L) aaa (K) tgg (W) atg (M) ttc (F) agg (R) tag (TER) wild type sequence in deletion region: tgg (W) tgt (C) tcc (S) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 11 323 W 333 * 11 vulva SMAD4 1 c.378_379delCT p.V128fs*14 length of cdnaseq = 1659 length of protseq = 552 378 379 CT 2 126 3 127 1 ct Total no. of codons in cdna seq = 553 gtc tgt start t-c end t-g gt- -gt frameshift deletion length of cdnaseq after deletion = 1657 ter codon is tga at posn 141 Protein length after deletion = 140 Total no. of codons in del cdnaseq = 553 last codon in array is a tgt (C) gat (D) agt (S) gtc (V) tgt (C) gtg (V) aat (N) cca (P) tat (Y) tgt (C) gat (D) agt (S) gtg (V) tgt (C) gaa (E) tcc (S) original frameshift length = 16 frameshift length = 16 frameshifted sequence: gtg (V) tgt (C) gaa (E) tcc (S) ata (I) tca (S) cta (L) cga (R) acg (T) agt (S) tgt (C) atc (I) acc (T) tgg (W) aat (N) tga (TER) wild type sequence in deletion region: gtc (V) tgt (C) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gtc (V) gtg (V) matching aa in delstart region of wt and deletion mutant: tgt (C) tgt (C) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 14 128 V 141 * 14 large_intestine SMAD4 2 c.1341_1365del25 p.Q448fs*20 length of cdnaseq = 1659 length of protseq = 552 1341 1365 25 25 447 3 455 3 gcagcagcaggcggctactgcacaa Total no. of codons in cdna seq = 553 atg caa start t-g post g end a-g at- --- frameshift deletion length of cdnaseq after deletion = 1634 ter codon is tag at posn 467 Protein length after deletion = 466 Total no. of codons in del cdnaseq = 545 last codon in array is ga cat (H) cga (R) cag (Q) atg (M) caa (Q) gct (A) gca (A) gca (A) gct (A) cat (H) cga (R) cag (Q) atg (M) ctg (L) cag (Q) cag (Q) original frameshift length = 21 frameshift length = 21 frameshifted sequence: atg (M) ctg (L) cag (Q) cag (Q) ctg (L) ccc (P) agg (R) cag (Q) cag (Q) ccg (P) tgg (W) cag (Q) gaa (E) aca (T) tcc (S) ctg (L) gcc (A) cag (Q) gat (D) cag (Q) tag (TER) wild type sequence in deletion region: atg (M) cag (Q) cag (Q) cag (Q) gcg (A) gct (A) act (T) gca (A) caa (Q) wt frameshift deln region length = 9 matching aa in delstart region of wt and deletion mutant: atg (M) atg (M) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 20 448 Q 467 * 20 pancreas SMAD4 2 c.1546_1553delCAGAGCAT p.S517fs*7 length of cdnaseq = 1659 length of protseq = 552 1546 1553 CAGAGCAT 8 516 1 518 2 cagagcat Total no. of codons in cdna seq = 553 cag atc prev a start a-c end t-c --- --c frameshift deletion length of cdnaseq after deletion = 1651 ter codon is tga at posn 523 Protein length after deletion = 522 Total no. of codons in del cdnaseq = 551 last codon in array is a tac (Y) cca (P) aga (R) cag (Q) atc (I) aaa (K) gaa (E) aca (T) cct (P) tac (Y) cca (P) aga (R) caa (Q) aga (R) aac (N) acc (T) original frameshift length = 8 frameshift length = 8 frameshifted sequence: caa (Q) aga (R) aac (N) acc (T) ttg (L) ctg (L) gat (D) tga (TER) wild type sequence in deletion region: cag (Q) agc (S) atc (I) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: cag (Q) caa (Q) first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 7 517 S 523 * 7 lung SMARCA4 1 c.169_169delC p.T58fs*36 length of cdnaseq = 4944 length of protseq = 1647 169 169 C 1 57 1 57 1 c Total no. of codons in cdna seq = 1648 ccc ccc prev c start c-c end c-c --- -cc frameshift deletion length of cdnaseq after deletion = 4943 ter codon is tga at posn 93 Protein length after deletion = 92 Total no. of codons in del cdnaseq = 1648 last codon in array is ga cac (H) ccc (P) atc (I) ccc (P) ccc (P) acc (T) cag (Q) ggg (G) cct (P) cac (H) ccc (P) atc (I) cca (P) ccc (P) agg (R) ggc (G) original frameshift length = 37 frameshift length = 37 frameshifted sequence: cca (P) ccc (P) agg (R) ggc (G) ctg (L) gag (E) ggt (G) acc (T) ctc (L) agg (R) aca (T) aca (T) tgc (C) acc (T) aga (R) tgc (C) aca (T) agc (S) cca (P) tgg (W) agt (S) cca (P) tgc (C) atg (M) aga (R) agg (R) gca (A) tgt (C) cgg (R) acg (T) acc (T) cgc (R) gct (A) aca (T) acc (T) aga (R) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 36 58 T 93 * 36 lung SMARCA4 1 c.2184_2206del23 p.Q729fs*4 length of cdnaseq = 4944 length of protseq = 1647 2184 2206 23 23 728 3 736 1 gcagtcctactatgccgtggccc Total no. of codons in cdna seq = 1648 ctg cat start t-g end c-a ct- -at frameshift deletion length of cdnaseq after deletion = 4921 ter codon is tga at posn 732 Protein length after deletion = 731 Total no. of codons in del cdnaseq = 1641 last codon in array is a gca (A) cgt (R) ggc (G) ctg (L) cat (H) gct (A) gtc (V) act (T) gag (E) gca (A) cgt (R) ggc (G) cta (L) tgc (C) tgt (C) cac (H) original frameshift length = 5 frameshift length = 5 frameshifted sequence: cta (L) tgc (C) tgt (C) cac (H) tga (TER) wild type sequence in deletion region: ctg (L) cag (Q) tcc (S) tac (Y) tat (Y) gcc (A) gtg (V) gcc (A) cat (H) wt frameshift deln region length = 9 matching aa in delstart region of wt and deletion mutant: ctg (L) cta (L) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 4 729 Q 732 * 4 lung SMARCA4 1 c.3254_3270del17 p.L1085fs*32 length of cdnaseq = 4944 length of protseq = 1647 3254 3270 17 17 1085 2 1090 3 ttgatagaattcttccc Total no. of codons in cdna seq = 1648 ctt ccc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 4927 ter codon is taa at posn 1116 Protein length after deletion = 1115 Total no. of codons in del cdnaseq = 1643 last codon in array is a ttt (F) gag (E) ctt (L) ctt (L) ccc (P) aaa (K) ctc (L) cga (R) gca (A) ttt (F) gag (E) ctt (L) caa (Q) act (T) ccg (P) agc (S) original frameshift length = 32 frameshift length = 32 frameshifted sequence: caa (Q) act (T) ccg (P) agc (S) aac (N) caa (Q) cca (P) caa (Q) agt (S) gct (A) gct (A) gtt (V) ctg (L) cca (P) aat (N) gac (D) ctc (L) cct (P) cat (H) gac (D) cat (H) cat (H) gga (G) aga (R) tta (L) ctt (L) tgc (C) gta (V) tcg (S) cgg (R) ctt (L) taa (TER) wild type sequence in deletion region: ctt (L) gat (D) aga (R) att (I) ctt (L) ccc (P) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 32 1085 L 1116 * 32 lung SMARCA4 1 c.3476_3476delG p.L1161fs*3 length of cdnaseq = 4944 length of protseq = 1647 3476 3476 G 1 1159 2 1159 2 g Total no. of codons in cdna seq = 1648 ggg ggg start g-g end g-g g-- --g frameshift deletion length of cdnaseq after deletion = 4943 ter codon is tga at posn 1163 Protein length after deletion = 1162 Total no. of codons in del cdnaseq = 1648 last codon in array is ga acc (T) cgg (R) gct (A) ggg (G) ggg (G) ggg (G) ctc (L) ggc (G) ctg (L) acc (T) cgg (R) gct (A) ggg (G) ggc (G) tcg (S) gcc (A) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ggg (G) ggc (G) tcg (S) gcc (A) tga (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) ggg (G) matching aa in delstart region of wt and deletion mutant: ggg (G) ggc (G) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 3 1161 L 1163 * 3 lung SMARCA4 1 c.3729_3730delGC p.A1245fs*13 length of cdnaseq = 4944 length of protseq = 1647 3729 3730 GC 2 1243 3 1244 1 gc Total no. of codons in cdna seq = 1648 cgg cgc start g-g end c-g cg- -gc frameshift deletion length of cdnaseq after deletion = 4942 ter codon is tga at posn 1257 Protein length after deletion = 1256 Total no. of codons in del cdnaseq = 1648 last codon in array is a agc (S) cat (H) gag (E) cgg (R) cgc (R) gcc (A) ttc (F) ctg (L) cag (Q) agc (S) cat (H) gag (E) cgg (R) cgc (R) ctt (L) cct (P) original frameshift length = 15 frameshift length = 15 frameshifted sequence: cgg (R) cgc (R) ctt (L) cct (P) gca (A) ggc (G) cat (H) cct (P) gga (G) gca (A) cga (R) gga (G) gca (A) gga (G) tga (TER) wild type sequence in deletion region: cgg (R) cgc (R) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cgg (R) cgg (R) matching aa in delstart region of wt and deletion mutant: cgc (R) cgc (R) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 13 1245 A 1257 * 13 lung SMARCA4 1 c.805_805delC p.M272fs*31 length of cdnaseq = 4944 length of protseq = 1647 805 805 C 1 269 1 269 1 c Total no. of codons in cdna seq = 1648 ccc ccc prev g start g-c end c-c --- -cc frameshift deletion length of cdnaseq after deletion = 4943 ter codon is tga at posn 302 Protein length after deletion = 301 Total no. of codons in del cdnaseq = 1648 last codon in array is ga tcg (S) ggc (G) gtg (V) ccc (P) ccc (P) ccc (P) ggg (G) atg (M) cca (P) tcg (S) ggc (G) gtg (V) ccc (P) ccg (P) gga (G) tgc (C) original frameshift length = 34 frameshift length = 34 frameshifted sequence: ccc (P) ccg (P) gga (G) tgc (C) cag (Q) gcc (A) agc (S) ctc (L) ctg (L) gag (E) ggc (G) ctc (L) cca (P) agc (S) cct (P) ggc (G) ctg (L) aag (K) gac (D) cca (P) tgg (W) cga (R) atg (M) ctg (L) ctg (L) ccc (P) cca (P) cga (R) gca (A) ccc (P) ctc (L) aga (R) agc (S) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccc (P) matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 31 272 M 302 * 31 lung SMARCA4 1 c.805_806delCC p.P270fs*16 length of cdnaseq = 4944 length of protseq = 1647 805 806 CC 2 269 1 269 2 cc Total no. of codons in cdna seq = 1648 ccc ccc prev g start g-c end c-c --- --c frameshift deletion length of cdnaseq after deletion = 4942 ter codon is tga at posn 285 Protein length after deletion = 284 Total no. of codons in del cdnaseq = 1648 last codon in array is a tcg (S) ggc (G) gtg (V) ccc (P) ccc (P) ccc (P) ggg (G) atg (M) cca (P) tcg (S) ggc (G) gtg (V) ccc (P) cgg (R) gat (D) gcc (A) original frameshift length = 17 frameshift length = 17 frameshifted sequence: ccc (P) cgg (R) gat (D) gcc (A) agg (R) cca (P) gcc (A) tcc (S) tgg (W) agg (R) gcc (A) tcc (S) caa (Q) gcc (A) ctg (L) gcc (A) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccc (P) first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 16 270 P 285 * 16 pancreas SMARCA4 1 c.729_729delC p.P244fs*59 length of cdnaseq = 4944 length of protseq = 1647 729 729 C 1 243 3 243 3 c Total no. of codons in cdna seq = 1648 ggc ggc start g-c post c end c-c gg- --- frameshift deletion length of cdnaseq after deletion = 4943 ter codon is tga at posn 302 Protein length after deletion = 301 Total no. of codons in del cdnaseq = 1648 last codon in array is ga ccg (P) ggt (G) ccc (P) ggc (G) ggc (G) ccg (P) gca (A) cct (P) cca (P) ccg (P) ggt (G) ccc (P) ggc (G) cgg (R) cac (H) ctc (L) original frameshift length = 60 frameshift length = 60 frameshifted sequence: ggc (G) cgg (R) cac (H) ctc (L) caa (Q) att (I) aca (T) gca (A) ggc (G) ctc (L) atg (M) gta (V) tgg (W) gag (E) ggc (G) cca (P) aca (T) tgc (C) ctc (L) ccc (P) cag (Q) gac (D) cct (P) cgg (R) gcg (A) tgc (C) ccc (P) ccg (P) gga (G) tgc (C) cag (Q) gcc (A) agc (S) ctc (L) ctg (L) gag (E) ggc (G) ctc (L) cca (P) agc (S) cct (P) ggc (G) ctg (L) aag (K) gac (D) cca (P) tgg (W) cga (R) atg (M) ctg (L) ctg (L) ccc (P) cca (P) cga (R) gca (A) ccc (P) ctc (L) aga (R) agc (S) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggc (G) ggc (G) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 59 244 P 302 * 59 central_nervous_system SMARCB1 13 c.1148delC p.P383fs*3 length of cdnaseq = 1158 length of protseq = 385 1148 1148 C 1 383 2 383 2 c Total no. of codons in cdna seq = 386 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1157 Total no. of codons in del cdnaseq = 386 last codon in array is aa No ter codons in deleted sequence Protein length after deletion = 385 aac (N) acg (T) gcc (A) ccg (P) ccg (P) gcc (A) tgg (W) taa (TER) --- ( ) aac (N) acg (T) gcc (A) cgg (R) cct (P) ggt (G) aa (end) original frameshift length = 4 frameshift length = 3 frameshifted sequence: cgg (R) cct (P) ggt (G) aa (end) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 3 383 P 385 * 3 bone SMARCB1 1 c.385_398del14 p.S129fs*36 length of cdnaseq = 1158 length of protseq = 385 385 398 14 14 129 1 133 2 agccagtgggtacc Total no. of codons in cdna seq = 386 agc ccc prev c start c-a end c-c --- --c frameshift deletion length of cdnaseq after deletion = 1144 ter codon is tga at posn 164 Protein length after deletion = 163 Total no. of codons in del cdnaseq = 382 last codon in array is a aag (K) agg (R) aac (N) agc (S) ccc (P) acc (T) ctg (L) ccc (P) aac (N) aag (K) agg (R) aac (N) cac (H) cct (P) gcc (A) caa (Q) original frameshift length = 36 frameshift length = 36 frameshifted sequence: cac (H) cct (P) gcc (A) caa (Q) cag (Q) ctc (L) cca (P) cca (P) ctt (L) aga (R) tgc (C) cgt (R) gcc (A) atg (M) ctc (L) cac (H) aac (N) cat (H) caa (Q) cag (Q) gaa (E) ccg (P) cat (H) ggg (G) ccg (P) aga (R) caa (Q) gaa (E) gag (E) aac (N) ctt (L) ccc (P) cct (P) ttg (L) ctt (L) tga (TER) wild type sequence in deletion region: agc (S) cag (Q) tgg (W) gta (V) ccc (P) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 36 129 S 164 * 36 central_nervous_system SMARCB1 1 c.1130_1130delG p.R377fs*10 length of cdnaseq = 1158 length of protseq = 385 1130 1130 G 1 377 2 377 2 g Total no. of codons in cdna seq = 386 cgt cgt start c-g end g-t c-- --t frameshift deletion length of cdnaseq after deletion = 1157 Total no. of codons in del cdnaseq = 386 last codon in array is aa No ter codons in deleted sequence Protein length after deletion = 385 cgg (R) atg (M) agg (R) cgt (R) cgt (R) ctt (L) gcc (A) aac (N) acg (T) cgg (R) atg (M) agg (R) ctc (L) ttg (L) cca (P) aca (T) original frameshift length = 10 frameshift length = 9 frameshifted sequence: ctc (L) ttg (L) cca (P) aca (T) cgg (R) ccc (P) cgg (R) cct (P) ggt (G) aa (end) wild type sequence in deletion region: cgt (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 9 377 R 386 * 10 central_nervous_system SMARCB1 1 c.1145_1145delC p.P383fs*4 length of cdnaseq = 1158 length of protseq = 385 1145 1145 C 1 382 2 382 2 c Total no. of codons in cdna seq = 386 gcc gcc start g-c end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 1157 Total no. of codons in del cdnaseq = 386 last codon in array is aa No ter codons in deleted sequence Protein length after deletion = 385 gcc (A) aac (N) acg (T) gcc (A) gcc (A) ccg (P) gcc (A) tgg (W) taa (TER) gcc (A) aac (N) acg (T) gcc (A) cgg (R) cct (P) ggt (G) original frameshift length = 5 frameshift length = 4 frameshifted sequence: gcc (A) cgg (R) cct (P) ggt (G) aa (end) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gcc (A) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 3 383 P 386 * 4 central_nervous_system SMARCB1 1 c.118_118delC p.R40fs*15 length of cdnaseq = 1158 length of protseq = 385 118 118 C 1 40 1 40 1 c Total no. of codons in cdna seq = 386 cga cga prev c start c-c end c-g --- -ga frameshift deletion length of cdnaseq after deletion = 1157 ter codon is tag at posn 54 Protein length after deletion = 53 Total no. of codons in del cdnaseq = 386 last codon in array is aa cgt (R) atg (M) ttc (F) cga (R) cga (R) ggt (G) tct (S) ctg (L) tac (Y) cgt (R) atg (M) ttc (F) gag (E) gtt (V) ctc (L) tgt (C) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gag (E) gtt (V) ctc (L) tgt (C) aca (T) aga (R) gat (D) acc (T) cct (P) cac (H) tct (S) gga (G) ggc (G) gac (D) tag (TER) wild type sequence in deletion region: cga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 15 40 R 54 * 15 central_nervous_system SMARCB1 1 c.174_175delAG p.E58fs*12 length of cdnaseq = 1158 length of protseq = 385 174 175 AG 2 58 3 59 1 ag Total no. of codons in cdna seq = 386 gaa gag start a-a end g-a ga- -ag frameshift deletion length of cdnaseq after deletion = 1156 ter codon is taa at posn 69 Protein length after deletion = 68 Total no. of codons in del cdnaseq = 386 last codon in array is a gcc (A) act (T) gtg (V) gaa (E) gag (E) agg (R) aag (K) aaa (K) ata (I) gcc (A) act (T) gtg (V) gaa (E) gag (E) gaa (E) gaa (E) original frameshift length = 12 frameshift length = 12 frameshifted sequence: gaa (E) gag (E) gaa (E) gaa (E) aat (N) agt (S) tgc (C) atc (I) gtc (V) aca (T) tgg (W) taa (TER) wild type sequence in deletion region: gaa (E) gag (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 10 58 E 69 * 12 R E 1 central_nervous_system SMARCB1 c.174_175delAG p.E58fs*12 central_nervous_system SMARCB1 1 c.430_430delG p.A144fs*32 length of cdnaseq = 1158 length of protseq = 385 430 430 G 1 144 1 144 1 g Total no. of codons in cdna seq = 386 gcc gcc prev t start t-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1157 ter codon is tga at posn 175 Protein length after deletion = 174 Total no. of codons in del cdnaseq = 386 last codon in array is aa cac (H) tta (L) gat (D) gcc (A) gcc (A) gtg (V) cca (P) tgc (C) tcc (S) cac (H) tta (L) gat (D) ccg (P) tgc (C) cat (H) gct (A) original frameshift length = 32 frameshift length = 32 frameshifted sequence: ccg (P) tgc (C) cat (H) gct (A) cca (P) caa (Q) cca (P) tca (S) aca (T) gga (G) acc (T) gca (A) tgg (W) gcc (A) gag (E) aca (T) aga (R) aga (R) gaa (E) cct (P) tcc (S) ccc (P) ttt (F) gct (A) ttg (L) atg (M) acc (T) atg (M) acc (T) cag (Q) ctg (L) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 32 144 A 175 * 32 central_nervous_system SMARCB1 1 c.545delA p.Q182fs*27 length of cdnaseq = 1158 length of protseq = 385 545 545 A 1 182 2 182 2 a Total no. of codons in cdna seq = 386 cag cag start c-a end a-g c-- --g frameshift deletion length of cdnaseq after deletion = 1157 ter codon is tga at posn 208 Protein length after deletion = 207 Total no. of codons in del cdnaseq = 386 last codon in array is aa aac (N) gca (A) tct (S) cag (Q) cag (Q) ccc (P) gag (E) gtg (V) ctg (L) aac (N) gca (A) tct (S) cgc (R) ccg (P) agg (R) tgc (C) original frameshift length = 27 frameshift length = 27 frameshifted sequence: cgc (R) ccg (P) agg (R) tgc (C) tgg (W) tcc (S) cca (P) tcc (S) ggc (G) tgg (W) aca (T) tgg (W) aga (R) tcg (S) atg (M) ggc (G) aga (R) agc (S) tgc (C) gag (E) acg (T) cct (P) tca (S) cct (P) gga (G) aca (T) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 27 182 Q 208 * 27 endometrium SMARCB1 1 c.950delG p.G317fs*3 length of cdnaseq = 1158 length of protseq = 385 950 950 G 1 317 2 317 2 g Total no. of codons in cdna seq = 386 gga gga start g-g end g-a g-- --a frameshift deletion length of cdnaseq after deletion = 1157 ter codon is tga at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 386 last codon in array is aa agc (S) atc (I) cgg (R) gga (G) gga (G) cag (Q) ctg (L) agc (S) tgg (W) agc (S) atc (I) cgg (R) gac (D) agc (S) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gac (D) agc (S) tga (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 3 317 G 319 * 3 soft_tissue SMARCB1 1 c.1051_1054delCCAC p.P351fs*5 length of cdnaseq = 1158 length of protseq = 385 1051 1054 CCAC 4 351 1 352 1 ccac Total no. of codons in cdna seq = 386 cca ctg prev c start c-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 1154 ter codon is tga at posn 355 Protein length after deletion = 354 Total no. of codons in del cdnaseq = 385 last codon in array is aa cag (Q) tgg (W) tgc (C) cca (P) ctg (L) ctg (L) gag (E) act (T) ctg (L) cag (Q) tgg (W) tgc (C) tgc (C) tgg (W) aga (R) ctc (L) original frameshift length = 5 frameshift length = 5 frameshifted sequence: tgc (C) tgg (W) aga (R) ctc (L) tga (TER) wild type sequence in deletion region: cca (P) ctg (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 5 351 P 355 * 5 soft_tissue SMARCB1 1 c.108_126del19 p.L36fs*13 length of cdnaseq = 1158 length of protseq = 385 108 126 19 19 36 3 42 3 ccgtatgttccgaggttct Total no. of codons in cdna seq = 386 ctc tct start t-c post c end t-c ct- --- frameshift deletion length of cdnaseq after deletion = 1139 ter codon is tag at posn 48 Protein length after deletion = 47 Total no. of codons in del cdnaseq = 380 last codon in array is aa gga (G) aac (N) tac (Y) ctc (L) tct (S) ctg (L) tac (Y) aag (K) aga (R) gga (G) aac (N) tac (Y) ctc (L) tgt (C) aca (T) aga (R) original frameshift length = 13 frameshift length = 13 frameshifted sequence: ctc (L) tgt (C) aca (T) aga (R) gat (D) acc (T) cct (P) cac (H) tct (S) gga (G) ggc (G) gac (D) tag (TER) wild type sequence in deletion region: ctc (L) cgt (R) atg (M) ttc (F) cga (R) ggt (G) tct (S) wt frameshift deln region length = 7 matching aa in delstart region of wt and deletion mutant: ctc (L) ctc (L) first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 12 36 L 48 * 13 R L 1 soft_tissue SMARCB1 c.108_126del19 p.L36fs*13 soft_tissue SMARCB1 1 c.1145_1145delC p.P383fs*4 length of cdnaseq = 1158 length of protseq = 385 1145 1145 C 1 382 2 382 2 c Total no. of codons in cdna seq = 386 gcc gcc start g-c end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 1157 Total no. of codons in del cdnaseq = 386 last codon in array is aa No ter codons in deleted sequence Protein length after deletion = 385 gcc (A) aac (N) acg (T) gcc (A) gcc (A) ccg (P) gcc (A) tgg (W) taa (TER) gcc (A) aac (N) acg (T) gcc (A) cgg (R) cct (P) ggt (G) original frameshift length = 5 frameshift length = 4 frameshifted sequence: gcc (A) cgg (R) cct (P) ggt (G) aa (end) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gcc (A) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 3 383 P 386 * 4 soft_tissue SMARCB1 1 c.1148delC p.P383fs*3 length of cdnaseq = 1158 length of protseq = 385 1148 1148 C 1 383 2 383 2 c Total no. of codons in cdna seq = 386 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1157 Total no. of codons in del cdnaseq = 386 last codon in array is aa No ter codons in deleted sequence Protein length after deletion = 385 aac (N) acg (T) gcc (A) ccg (P) ccg (P) gcc (A) tgg (W) taa (TER) --- ( ) aac (N) acg (T) gcc (A) cgg (R) cct (P) ggt (G) aa (end) original frameshift length = 4 frameshift length = 3 frameshifted sequence: cgg (R) cct (P) ggt (G) aa (end) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 3 383 P 385 * 3 soft_tissue SMARCB1 1 c.139_143delTACCC p.Y47fs*22 length of cdnaseq = 1158 length of protseq = 385 139 143 TACCC 5 47 1 48 2 taccc Total no. of codons in cdna seq = 386 tac ccc prev a start a-t end c-c --- --c frameshift deletion length of cdnaseq after deletion = 1153 ter codon is taa at posn 68 Protein length after deletion = 67 Total no. of codons in del cdnaseq = 385 last codon in array is a tac (Y) aag (K) aga (R) tac (Y) ccc (P) tca (S) ctc (L) tgg (W) agg (R) tac (Y) aag (K) aga (R) ctc (L) act (T) ctg (L) gag (E) original frameshift length = 22 frameshift length = 22 frameshifted sequence: ctc (L) act (T) ctg (L) gag (E) gcg (A) act (T) agc (S) cac (H) tgt (C) gga (G) aga (R) gag (E) gaa (E) gaa (E) aat (N) agt (S) tgc (C) atc (I) gtc (V) aca (T) tgg (W) taa (TER) wild type sequence in deletion region: tac (Y) ccc (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 22 47 Y 68 * 22 soft_tissue SMARCB1 1 c.189_196delAGTTGCAT p.I63fs*5 length of cdnaseq = 1158 length of protseq = 385 189 196 AGTTGCAT 8 63 3 66 1 agttgcat Total no. of codons in cdna seq = 386 ata tcg start t-a end t-c at- -cg frameshift deletion length of cdnaseq after deletion = 1150 ter codon is taa at posn 67 Protein length after deletion = 66 Total no. of codons in del cdnaseq = 384 last codon in array is a agg (R) aag (K) aaa (K) ata (I) tcg (S) tca (S) cat (H) ggt (G) aaa (K) agg (R) aag (K) aaa (K) atc (I) gtc (V) aca (T) tgg (W) original frameshift length = 5 frameshift length = 5 frameshifted sequence: atc (I) gtc (V) aca (T) tgg (W) taa (TER) wild type sequence in deletion region: ata (I) gtt (V) gca (A) tcg (S) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: ata (I) atc (I) matching aa in delstart region of wt and deletion mutant: gtt (V) gtc (V) first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 3 63 I 67 * 5 A I 1 soft_tissue SMARCB1 c.189_196delAGTTGCAT p.I63fs*5 soft_tissue SMARCB1 1 c.298_299delCT p.L100fs*5 length of cdnaseq = 1158 length of protseq = 385 298 299 CT 2 100 1 100 2 ct Total no. of codons in cdna seq = 386 ctg ctg prev t start t-c end t-g --- --g frameshift deletion length of cdnaseq after deletion = 1156 ter codon is tga at posn 104 Protein length after deletion = 103 Total no. of codons in del cdnaseq = 386 last codon in array is a gaa (E) gag (E) att (I) ctg (L) ctg (L) gat (D) ggc (G) aac (N) gat (D) gaa (E) gag (E) att (I) gga (G) tgg (W) caa (Q) cga (R) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gga (G) tgg (W) caa (Q) cga (R) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 5 100 L 104 * 5 soft_tissue SMARCB1 1 c.332_332delC p.I112fs*31 length of cdnaseq = 1158 length of protseq = 385 332 332 C 1 111 2 111 2 c Total no. of codons in cdna seq = 386 tcc tcc start t-c end c-c t-- --c frameshift deletion length of cdnaseq after deletion = 1157 ter codon is tag at posn 142 Protein length after deletion = 141 Total no. of codons in del cdnaseq = 386 last codon in array is aa aag (K) gct (A) gtg (V) tcc (S) tcc (S) atc (I) agc (S) aca (T) gag (E) aag (K) gct (A) gtg (V) tca (S) tca (S) gca (A) cag (Q) original frameshift length = 32 frameshift length = 32 frameshifted sequence: tca (S) tca (S) gca (A) cag (Q) agc (S) ccc (P) cca (P) cct (P) acc (T) tca (S) ggg (G) aac (N) aga (R) agg (R) cca (P) aga (R) gga (G) aca (T) gcc (A) agt (S) ggg (G) tac (Y) cca (P) ccc (P) tgc (C) cca (P) aca (T) gct (A) ccc (P) acc (T) act (T) tag (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcc (S) tca (S) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 31 112 I 142 * 31 soft_tissue SMARCB1 1 c.351delC p.P117fs*26 length of cdnaseq = 1158 length of protseq = 385 351 351 C 1 117 3 117 3 c Total no. of codons in cdna seq = 386 ccc ccc start c-c post a end c-a cc- --- frameshift deletion length of cdnaseq after deletion = 1157 ter codon is tag at posn 142 Protein length after deletion = 141 Total no. of codons in del cdnaseq = 386 last codon in array is aa aca (T) gag (E) ccc (P) ccc (P) ccc (P) acc (T) tac (Y) ctc (L) agg (R) aca (T) gag (E) ccc (P) cca (P) cct (P) acc (T) tca (S) original frameshift length = 26 frameshift length = 26 frameshifted sequence: cca (P) cct (P) acc (T) tca (S) ggg (G) aac (N) aga (R) agg (R) cca (P) aga (R) gga (G) aca (T) gcc (A) agt (S) ggg (G) tac (Y) cca (P) ccc (P) tgc (C) cca (P) aca (T) gct (A) ccc (P) acc (T) act (T) tag (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 25 117 P 142 * 26 T P 1 soft_tissue SMARCB1 c.351delC p.P117fs*26 soft_tissue SMARCB1 1 c.354delC p.T118fs*25 length of cdnaseq = 1158 length of protseq = 385 354 354 C 1 118 3 118 3 c Total no. of codons in cdna seq = 386 acc acc start c-c post t end c-t ac- --- frameshift deletion length of cdnaseq after deletion = 1157 ter codon is tag at posn 142 Protein length after deletion = 141 Total no. of codons in del cdnaseq = 386 last codon in array is aa gag (E) ccc (P) ccc (P) acc (T) acc (T) tac (Y) ctc (L) agg (R) gaa (E) gag (E) ccc (P) ccc (P) act (T) acc (T) tca (S) ggg (G) original frameshift length = 25 frameshift length = 25 frameshifted sequence: act (T) acc (T) tca (S) ggg (G) aac (N) aga (R) agg (R) cca (P) aga (R) gga (G) aca (T) gcc (A) agt (S) ggg (G) tac (Y) cca (P) ccc (P) tgc (C) cca (P) aca (T) gct (A) ccc (P) acc (T) act (T) tag (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acc (T) act (T) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 24 118 T 142 * 25 Y T 1 soft_tissue SMARCB1 c.354delC p.T118fs*25 soft_tissue SMARCB1 1 c.356_360delACCTC p.Y119fs*1 length of cdnaseq = 1158 length of protseq = 385 356 360 ACCTC 5 119 2 120 3 acctc Total no. of codons in cdna seq = 386 tac ctc start t-a post a end c-a t-- --- frameshift deletion length of cdnaseq after deletion = 1153 ter codon is tag at posn 119 Protein length after deletion = 118 Total no. of codons in del cdnaseq = 385 last codon in array is a ccc (P) ccc (P) acc (T) tac (Y) ctc (L) agg (R) gaa (E) cag (Q) aag (K) ccc (P) ccc (P) acc (T) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tac (Y) ctc (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 1 119 Y 119 * 1 soft_tissue SMARCB1 1 c.363_628del266 p.R121fs*7 length of cdnaseq = 1158 length of protseq = 385 363 628 266 266 121 3 210 1 ggaacagaaggccaagaggaacagccagtgggtacccaccctgcccaacagctcccaccacttagatgccgtgccatgctccacaaccatcaacaggaaccgcatgggccgagacaagaagagaaccttccccctttgctttgatgaccatgacccagctgtgatccatgagaacgcatctcagcccgaggtgctggtccccatccggctggacatggagatcgatgggcagaagctgcgagacgccttcacctggaacatgaatg Total no. of codons in cdna seq = 386 agg gag start g-g end g-a ag- -ag frameshift deletion length of cdnaseq after deletion = 892 ter codon is tga at posn 127 Protein length after deletion = 126 Total no. of codons in del cdnaseq = 298 last codon in array is a acc (T) tac (Y) ctc (L) agg (R) gag (E) aag (K) ttg (L) atg (M) acg (T) acc (T) tac (Y) ctc (L) aga (R) gaa (E) gtt (V) gat (D) original frameshift length = 7 frameshift length = 7 frameshifted sequence: aga (R) gaa (E) gtt (V) gat (D) gac (D) gcc (A) tga (TER) wild type sequence in deletion region: agg (R) gaa (E) cag (Q) aag (K) gcc (A) aag (K) agg (R) aac (N) agc (S) cag (Q) tgg (W) gta (V) ccc (P) acc (T) ctg (L) ccc (P) aac (N) agc (S) tcc (S) cac (H) cac (H) tta (L) gat (D) gcc (A) gtg (V) cca (P) tgc (C) tcc (S) aca (T) acc (T) atc (I) aac (N) agg (R) aac (N) cgc (R) atg (M) ggc (G) cga (R) gac (D) aag (K) aag (K) aga (R) acc (T) ttc (F) ccc (P) ctt (L) tgc (C) ttt (F) gat (D) gac (D) cat (H) gac (D) cca (P) gct (A) gtg (V) atc (I) cat (H) gag (E) aac (N) gca (A) tct (S) cag (Q) ccc (P) gag (E) gtg (V) ctg (L) gtc (V) ccc (P) atc (I) cgg (R) ctg (L) gac (D) atg (M) gag (E) atc (I) gat (D) ggg (G) cag (Q) aag (K) ctg (L) cga (R) gac (D) gcc (A) ttc (F) acc (T) tgg (W) aac (N) atg (M) aat (N) gag (E) wt frameshift deln region length = 90 matching aa in delstart region of wt and deletion mutant: agg (R) aga (R) matching aa in delstart region of wt and deletion mutant: gaa (E) gaa (E) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 5 121 R 127 * 7 Q R 1 soft_tissue SMARCB1 c.363_628del266 p.R121fs*7 soft_tissue SMARCB1 1 c.543_544delTC p.S181fs*29 length of cdnaseq = 1158 length of protseq = 385 543 544 TC 2 181 3 182 1 tc Total no. of codons in cdna seq = 386 tct cag start c-t end c-a tc- -ag frameshift deletion length of cdnaseq after deletion = 1156 ter codon is tga at posn 209 Protein length after deletion = 208 Total no. of codons in del cdnaseq = 386 last codon in array is a gag (E) aac (N) gca (A) tct (S) cag (Q) ccc (P) gag (E) gtg (V) ctg (L) gag (E) aac (N) gca (A) tca (S) gcc (A) cga (R) ggt (G) original frameshift length = 29 frameshift length = 29 frameshifted sequence: tca (S) gcc (A) cga (R) ggt (G) gct (A) ggt (G) ccc (P) cat (H) ccg (P) gct (A) gga (G) cat (H) gga (G) gat (D) cga (R) tgg (W) gca (A) gaa (E) gct (A) gcg (A) aga (R) cgc (R) ctt (L) cac (H) ctg (L) gaa (E) cat (H) gaa (E) tga (TER) wild type sequence in deletion region: tct (S) cag (Q) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tct (S) tca (S) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 28 181 S 209 * 29 Q S 1 soft_tissue SMARCB1 c.543_544delTC p.S181fs*29 soft_tissue SMARCB1 1 c.629_795del167 p.E210fs*15 length of cdnaseq = 1158 length of protseq = 385 629 795 167 167 210 2 265 3 agaagttgatgacgcctgagatgttttcagaaatcctctgtgacgatctggatttgaacccgctgacgtttgtgccagccatcgcctctgccatcagacagcagatcgagtcctaccccacggacagcatcctggaggaccagtcagaccagcgcgtcatcatcaag Total no. of codons in cdna seq = 386 gag aag start g-a post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 991 ter codon is tga at posn 224 Protein length after deletion = 223 Total no. of codons in del cdnaseq = 331 last codon in array is a aac (N) atg (M) aat (N) gag (E) aag (K) ctg (L) aac (N) atc (I) cat (H) aac (N) atg (M) aat (N) gct (A) gaa (E) cat (H) cca (P) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gct (A) gaa (E) cat (H) cca (P) tgt (C) ggg (G) aaa (K) cat (H) ttc (F) cct (P) ggt (G) gga (G) cca (P) gtt (V) tga (TER) wild type sequence in deletion region: gag (E) aag (K) ttg (L) atg (M) acg (T) cct (P) gag (E) atg (M) ttt (F) tca (S) gaa (E) atc (I) ctc (L) tgt (C) gac (D) gat (D) ctg (L) gat (D) ttg (L) aac (N) ccg (P) ctg (L) acg (T) ttt (F) gtg (V) cca (P) gcc (A) atc (I) gcc (A) tct (S) gcc (A) atc (I) aga (R) cag (Q) cag (Q) atc (I) gag (E) tcc (S) tac (Y) ccc (P) acg (T) gac (D) agc (S) atc (I) ctg (L) gag (E) gac (D) cag (Q) tca (S) gac (D) cag (Q) cgc (R) gtc (V) atc (I) atc (I) aag (K) wt frameshift deln region length = 56 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 15 210 E 224 * 15 soft_tissue SMARCB1 1 c.669_670delTG p.C223fs*1 length of cdnaseq = 1158 length of protseq = 385 669 670 TG 2 223 3 224 1 tg Total no. of codons in cdna seq = 386 tgt gac start g-t end g-a tg- -ac frameshift deletion length of cdnaseq after deletion = 1156 ter codon is tga at posn 223 Protein length after deletion = 222 Total no. of codons in del cdnaseq = 386 last codon in array is a gaa (E) atc (I) ctc (L) tgt (C) gac (D) gat (D) ctg (L) gat (D) ttg (L) gaa (E) atc (I) ctc (L) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tgt (C) gac (D) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 1 223 C 223 * 1 soft_tissue SMARCB1 1 c.869delC p.P290fs*6 length of cdnaseq = 1158 length of protseq = 385 869 869 C 1 290 2 290 2 c Total no. of codons in cdna seq = 386 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 1157 ter codon is tga at posn 295 Protein length after deletion = 294 Total no. of codons in del cdnaseq = 386 last codon in array is aa gag (E) aac (N) tca (S) cca (P) cca (P) gag (E) aag (K) ttt (F) gcc (A) gag (E) aac (N) tca (S) cag (Q) aga (R) agt (S) ttg (L) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cag (Q) aga (R) agt (S) ttg (L) ccc (P) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 6 290 P 295 * 6 central_nervous_system SMARCB1 2 c.711_711delC p.I237fs*30 length of cdnaseq = 1158 length of protseq = 385 711 711 C 1 237 3 237 3 c Total no. of codons in cdna seq = 386 atc atc start t-c post g end c-g at- --- frameshift deletion length of cdnaseq after deletion = 1157 ter codon is tga at posn 266 Protein length after deletion = 265 Total no. of codons in del cdnaseq = 386 last codon in array is aa gtg (V) cca (P) gcc (A) atc (I) atc (I) gcc (A) tct (S) gcc (A) atc (I) gtg (V) cca (P) gcc (A) atg (M) cct (P) ctg (L) cca (P) original frameshift length = 30 frameshift length = 30 frameshifted sequence: atg (M) cct (P) ctg (L) cca (P) tca (S) gac (D) agc (S) aga (R) tcg (S) agt (S) cct (P) acc (T) cca (P) cgg (R) aca (T) gca (A) tcc (S) tgg (W) agg (R) acc (T) agt (S) cag (Q) acc (T) agc (S) gcg (A) tca (S) tca (S) tca (S) agc (S) tga (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 30 237 I 266 * 30 soft_tissue SMARCB1 2 c.950delG p.G317fs*3 length of cdnaseq = 1158 length of protseq = 385 950 950 G 1 317 2 317 2 g Total no. of codons in cdna seq = 386 gga gga start g-g end g-a g-- --a frameshift deletion length of cdnaseq after deletion = 1157 ter codon is tga at posn 319 Protein length after deletion = 318 Total no. of codons in del cdnaseq = 386 last codon in array is aa agc (S) atc (I) cgg (R) gga (G) gga (G) cag (Q) ctg (L) agc (S) tgg (W) agc (S) atc (I) cgg (R) gac (D) agc (S) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gac (D) agc (S) tga (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 3 317 G 319 * 3 central_nervous_system SMARCB1 3 c.1144delG p.A382fs*4 length of cdnaseq = 1158 length of protseq = 385 1144 1144 G 1 382 1 382 1 g Total no. of codons in cdna seq = 386 gcc gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1157 Total no. of codons in del cdnaseq = 386 last codon in array is aa No ter codons in deleted sequence Protein length after deletion = 385 gcc (A) aac (N) acg (T) gcc (A) gcc (A) ccg (P) gcc (A) tgg (W) taa (TER) gcc (A) aac (N) acg (T) ccc (P) cgg (R) cct (P) ggt (G) original frameshift length = 5 frameshift length = 4 frameshifted sequence: ccc (P) cgg (R) cct (P) ggt (G) aa (end) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 4 382 A 385 * 4 central_nervous_system SMARCB1 5 c.1143_1143delG p.A382fs*5 length of cdnaseq = 1158 length of protseq = 385 1143 1143 G 1 381 3 381 3 g Total no. of codons in cdna seq = 386 acg acg start c-g post g end g-g ac- --- frameshift deletion length of cdnaseq after deletion = 1157 Total no. of codons in del cdnaseq = 386 last codon in array is aa No ter codons in deleted sequence Protein length after deletion = 385 ctt (L) gcc (A) aac (N) acg (T) acg (T) gcc (A) ccg (P) gcc (A) tgg (W) ctt (L) gcc (A) aac (N) acg (T) ccc (P) cgg (R) cct (P) original frameshift length = 6 frameshift length = 5 frameshifted sequence: acg (T) ccc (P) cgg (R) cct (P) ggt (G) aa (end) wild type sequence in deletion region: acg (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acg (T) acg (T) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 4 382 A 386 * 5 haematopoietic_and_lymphoid_tissue SOCS1 1 c.145_149delGCCCC p.A49fs*66 length of cdnaseq = 636 length of protseq = 211 145 149 GCCCC 5 49 1 50 2 gcccc Total no. of codons in cdna seq = 212 gcc ccc prev g start g-g end c-c --- --c frameshift deletion length of cdnaseq after deletion = 631 ter codon is tag at posn 114 Protein length after deletion = 113 Total no. of codons in del cdnaseq = 211 last codon in array is a ccg (P) gcc (A) ccg (P) gcc (A) ccc (P) ggc (G) gac (D) acg (T) cac (H) ccg (P) gcc (A) ccg (P) cgg (R) cga (R) cac (H) gca (A) original frameshift length = 66 frameshift length = 66 frameshifted sequence: cgg (R) cga (R) cac (H) gca (A) ctt (L) ccg (P) cac (H) att (I) ccg (P) ttc (F) gca (A) cgc (R) cga (R) tta (L) ccg (P) gcg (A) cat (H) cac (H) gcg (A) cgc (R) cag (Q) cgc (R) gct (A) cct (P) gga (G) cgc (R) ctg (L) cgg (R) att (I) cta (L) ctg (L) ggg (G) gcc (A) cct (P) gag (E) cgt (R) gca (A) cgg (R) ggc (G) gca (A) cga (R) gcg (A) gct (A) gcg (A) cgc (R) cga (R) gcc (A) cgt (R) ggg (G) cac (H) ctt (L) cct (P) ggt (G) gcg (A) cga (R) cag (Q) ccg (P) cca (P) gcg (A) gaa (E) ctg (L) ctt (L) ttt (F) cgc (R) cct (P) tag (TER) wild type sequence in deletion region: gcc (A) ccc (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 66 49 A 114 * 66 haematopoietic_and_lymphoid_tissue SOCS1 1 c.150_166del17 p.G51fs*60 length of cdnaseq = 636 length of protseq = 211 150 166 17 17 50 3 56 1 cggcgacacgcacttcc Total no. of codons in cdna seq = 212 ccc cgc start c-c end c-g cc- -gc frameshift deletion length of cdnaseq after deletion = 619 ter codon is tag at posn 110 Protein length after deletion = 109 Total no. of codons in del cdnaseq = 207 last codon in array is a gcc (A) ccg (P) gcc (A) ccc (P) cgc (R) aca (T) ttc (F) cgt (R) tcg (S) gcc (A) ccg (P) gcc (A) ccg (P) cac (H) att (I) ccg (P) original frameshift length = 61 frameshift length = 61 frameshifted sequence: ccg (P) cac (H) att (I) ccg (P) ttc (F) gca (A) cgc (R) cga (R) tta (L) ccg (P) gcg (A) cat (H) cac (H) gcg (A) cgc (R) cag (Q) cgc (R) gct (A) cct (P) gga (G) cgc (R) ctg (L) cgg (R) att (I) cta (L) ctg (L) ggg (G) gcc (A) cct (P) gag (E) cgt (R) gca (A) cgg (R) ggc (G) gca (A) cga (R) gcg (A) gct (A) gcg (A) cgc (R) cga (R) gcc (A) cgt (R) ggg (G) cac (H) ctt (L) cct (P) ggt (G) gcg (A) cga (R) cag (Q) ccg (P) cca (P) gcg (A) gaa (E) ctg (L) ctt (L) ttt (F) cgc (R) cct (P) tag (TER) wild type sequence in deletion region: ccc (P) ggc (G) gac (D) acg (T) cac (H) ttc (F) cgc (R) wt frameshift deln region length = 7 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 60 51 G 110 * 60 haematopoietic_and_lymphoid_tissue SOCS1 1 c.191_218del28 p.Y64fs*12 length of cdnaseq = 636 length of protseq = 211 191 218 28 28 64 2 73 2 accggcgcatcacgcgcgccagcgcgct Total no. of codons in cdna seq = 212 tac ctc start t-a end t-c t-- --c frameshift deletion length of cdnaseq after deletion = 608 ter codon is tga at posn 75 Protein length after deletion = 74 Total no. of codons in del cdnaseq = 203 last codon in array is ga cac (H) gcc (A) gat (D) tac (Y) ctc (L) ctg (L) gac (D) gcc (A) tgc (C) cac (H) gcc (A) gat (D) tcc (S) tgg (W) acg (T) cct (P) original frameshift length = 12 frameshift length = 12 frameshifted sequence: tcc (S) tgg (W) acg (T) cct (P) gcg (A) gat (D) tct (S) act (T) ggg (G) ggc (G) ccc (P) tga (TER) wild type sequence in deletion region: tac (Y) cgg (R) cgc (R) atc (I) acg (T) cgc (R) gcc (A) agc (S) gcg (A) ctc (L) wt frameshift deln region length = 10 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 12 64 Y 75 * 12 haematopoietic_and_lymphoid_tissue SOCS1 1 c.192_541del350 p.Y64fs*1 length of cdnaseq = 636 length of protseq = 211 192 541 350 350 64 3 181 1 ccggcgcatcacgcgcgccagcgcgctcctggacgcctgcggattctactgggggcccctgagcgtgcacggggcgcacgagcggctgcgcgccgagcccgtgggcaccttcctggtgcgcgacagccgccagcggaactgctttttcgcccttagcgtgaagatggcctcgggacccacgagcatccgcgtgcactttcaggccggccgctttcacctggatggcagccgcgagagcttcgactgcctcttcgagctgctggagcactacgtggcggcgccgcgccgcatgctgggggccccgctgcgccagcgccgcgtgcggccgctgcaggagctgtgccgccagc Total no. of codons in cdna seq = 212 tac cgc start a-c end c-g ta- -gc frameshift deletion length of cdnaseq after deletion = 286 ter codon is tag at posn 64 Protein length after deletion = 63 Total no. of codons in del cdnaseq = 96 last codon in array is a cac (H) gcc (A) gat (D) tac (Y) cgc (R) atc (I) gtg (V) gcc (A) acc (T) cac (H) gcc (A) gat (D) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tac (Y) cgg (R) cgc (R) atc (I) acg (T) cgc (R) gcc (A) agc (S) gcg (A) ctc (L) ctg (L) gac (D) gcc (A) tgc (C) gga (G) ttc (F) tac (Y) tgg (W) ggg (G) ccc (P) ctg (L) agc (S) gtg (V) cac (H) ggg (G) gcg (A) cac (H) gag (E) cgg (R) ctg (L) cgc (R) gcc (A) gag (E) ccc (P) gtg (V) ggc (G) acc (T) ttc (F) ctg (L) gtg (V) cgc (R) gac (D) agc (S) cgc (R) cag (Q) cgg (R) aac (N) tgc (C) ttt (F) ttc (F) gcc (A) ctt (L) agc (S) gtg (V) aag (K) atg (M) gcc (A) tcg (S) gga (G) ccc (P) acg (T) agc (S) atc (I) cgc (R) gtg (V) cac (H) ttt (F) cag (Q) gcc (A) ggc (G) cgc (R) ttt (F) cac (H) ctg (L) gat (D) ggc (G) agc (S) cgc (R) gag (E) agc (S) ttc (F) gac (D) tgc (C) ctc (L) ttc (F) gag (E) ctg (L) ctg (L) gag (E) cac (H) tac (Y) gtg (V) gcg (A) gcg (A) ccg (P) cgc (R) cgc (R) atg (M) ctg (L) ggg (G) gcc (A) ccg (P) ctg (L) cgc (R) cag (Q) cgc (R) cgc (R) gtg (V) cgg (R) ccg (P) ctg (L) cag (Q) gag (E) ctg (L) tgc (C) cgc (R) cag (Q) cgc (R) wt frameshift deln region length = 118 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 1 64 Y 64 * 1 haematopoietic_and_lymphoid_tissue SOCS1 1 c.193_203del11 p.R65fs*48 length of cdnaseq = 636 length of protseq = 211 193 203 11 11 65 1 68 2 cggcgcatcac Total no. of codons in cdna seq = 212 cgg acg prev c start c-c end c-g --- --g frameshift deletion length of cdnaseq after deletion = 625 ter codon is tag at posn 112 Protein length after deletion = 111 Total no. of codons in del cdnaseq = 209 last codon in array is a gcc (A) gat (D) tac (Y) cgg (R) acg (T) cgc (R) gcc (A) agc (S) gcg (A) gcc (A) gat (D) tac (Y) gcg (A) cgc (R) cag (Q) cgc (R) original frameshift length = 48 frameshift length = 48 frameshifted sequence: gcg (A) cgc (R) cag (Q) cgc (R) gct (A) cct (P) gga (G) cgc (R) ctg (L) cgg (R) att (I) cta (L) ctg (L) ggg (G) gcc (A) cct (P) gag (E) cgt (R) gca (A) cgg (R) ggc (G) gca (A) cga (R) gcg (A) gct (A) gcg (A) cgc (R) cga (R) gcc (A) cgt (R) ggg (G) cac (H) ctt (L) cct (P) ggt (G) gcg (A) cga (R) cag (Q) ccg (P) cca (P) gcg (A) gaa (E) ctg (L) ctt (L) ttt (F) cgc (R) cct (P) tag (TER) wild type sequence in deletion region: cgg (R) cgc (R) atc (I) acg (T) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 48 65 R 112 * 48 haematopoietic_and_lymphoid_tissue SOCS1 1 c.208_257del50 p.S71fs*29 length of cdnaseq = 636 length of protseq = 211 208 257 50 50 70 1 86 2 gccagcgcgctcctggacgcctgcggattctactgggggcccctgagcgt Total no. of codons in cdna seq = 212 gcc gtg prev c start c-g end t-g --- --g frameshift deletion length of cdnaseq after deletion = 586 ter codon is tag at posn 99 Protein length after deletion = 98 Total no. of codons in del cdnaseq = 196 last codon in array is a atc (I) acg (T) cgc (R) gcc (A) gtg (V) cac (H) ggg (G) gcg (A) cac (H) atc (I) acg (T) cgc (R) gca (A) cgg (R) ggc (G) gca (A) original frameshift length = 30 frameshift length = 30 frameshifted sequence: gca (A) cgg (R) ggc (G) gca (A) cga (R) gcg (A) gct (A) gcg (A) cgc (R) cga (R) gcc (A) cgt (R) ggg (G) cac (H) ctt (L) cct (P) ggt (G) gcg (A) cga (R) cag (Q) ccg (P) cca (P) gcg (A) gaa (E) ctg (L) ctt (L) ttt (F) cgc (R) cct (P) tag (TER) wild type sequence in deletion region: gcc (A) agc (S) gcg (A) ctc (L) ctg (L) gac (D) gcc (A) tgc (C) gga (G) ttc (F) tac (Y) tgg (W) ggg (G) ccc (P) ctg (L) agc (S) gtg (V) wt frameshift deln region length = 17 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 29 71 S 99 * 29 haematopoietic_and_lymphoid_tissue SOCS1 1 c.216_225del10 p.L73fs*9 length of cdnaseq = 636 length of protseq = 211 216 225 10 10 72 3 75 3 gctcctggac Total no. of codons in cdna seq = 212 gcg gac start c-g post g end c-g gc- --- frameshift deletion length of cdnaseq after deletion = 626 ter codon is tga at posn 81 Protein length after deletion = 80 Total no. of codons in del cdnaseq = 209 last codon in array is ga cgc (R) gcc (A) agc (S) gcg (A) gac (D) gcc (A) tgc (C) gga (G) ttc (F) cgc (R) gcc (A) agc (S) gcg (A) cct (P) gcg (A) gat (D) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gcg (A) cct (P) gcg (A) gat (D) tct (S) act (T) ggg (G) ggc (G) ccc (P) tga (TER) wild type sequence in deletion region: gcg (A) ctc (L) ctg (L) gac (D) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: gcg (A) gcg (A) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 9 73 L 81 * 9 haematopoietic_and_lymphoid_tissue SOCS1 1 c.343_349delCTTAGCG p.L115fs*1 length of cdnaseq = 636 length of protseq = 211 343 349 CTTAGCG 7 115 1 117 1 cttagcg Total no. of codons in cdna seq = 212 ctt gtg prev c start c-c end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 629 ter codon is tga at posn 115 Protein length after deletion = 114 Total no. of codons in del cdnaseq = 210 last codon in array is ga ttt (F) ttc (F) gcc (A) ctt (L) gtg (V) aag (K) atg (M) gcc (A) tcg (S) ttt (F) ttc (F) gcc (A) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: ctt (L) agc (S) gtg (V) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 1 115 L 115 * 1 haematopoietic_and_lymphoid_tissue SOCS1 1 c.431_512del82 p.F144fs*34 length of cdnaseq = 636 length of protseq = 211 431 512 82 82 144 2 171 2 tcgactgcctcttcgagctgctggagcactacgtggcggcgccgcgccgcatgctgggggccccgctgcgccagcgccgcgt Total no. of codons in cdna seq = 212 ttc gtg start t-t end t-g t-- --g frameshift deletion length of cdnaseq after deletion = 554 ter codon is tga at posn 177 Protein length after deletion = 176 Total no. of codons in del cdnaseq = 185 last codon in array is ga cgc (R) gag (E) agc (S) ttc (F) gtg (V) cgg (R) ccg (P) ctg (L) cag (Q) cgc (R) gag (E) agc (S) tgc (C) ggc (G) cgc (R) tgc (C) original frameshift length = 34 frameshift length = 34 frameshifted sequence: tgc (C) ggc (G) cgc (R) tgc (C) agg (R) agc (S) tgt (C) gcc (A) gcc (A) agc (S) gca (A) tcg (S) tgg (W) cca (P) ccg (P) tgg (W) gcc (A) gcg (A) aga (R) acc (T) tgg (W) ctc (L) gca (A) tcc (S) ccc (P) tca (S) acc (T) ccg (P) tcc (S) tcc (S) gcg (A) act (T) acc (T) tga (TER) wild type sequence in deletion region: ttc (F) gac (D) tgc (C) ctc (L) ttc (F) gag (E) ctg (L) ctg (L) gag (E) cac (H) tac (Y) gtg (V) gcg (A) gcg (A) ccg (P) cgc (R) cgc (R) atg (M) ctg (L) ggg (G) gcc (A) ccg (P) ctg (L) cgc (R) cag (Q) cgc (R) cgc (R) gtg (V) wt frameshift deln region length = 28 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 34 144 F 177 * 34 haematopoietic_and_lymphoid_tissue SOCS1 1 c.483_489delGCTGGGG p.L162fs*41 length of cdnaseq = 636 length of protseq = 211 483 489 GCTGGGG 7 161 3 163 3 gctgggg Total no. of codons in cdna seq = 212 atg ggg start t-g post g end g-g at- --- frameshift deletion length of cdnaseq after deletion = 629 ter codon is tga at posn 202 Protein length after deletion = 201 Total no. of codons in del cdnaseq = 210 last codon in array is ga ccg (P) cgc (R) cgc (R) atg (M) ggg (G) gcc (A) ccg (P) ctg (L) cgc (R) ccg (P) cgc (R) cgc (R) atg (M) ccc (P) cgc (R) tgc (C) original frameshift length = 42 frameshift length = 42 frameshifted sequence: atg (M) ccc (P) cgc (R) tgc (C) gcc (A) agc (S) gcc (A) gcg (A) tgc (C) ggc (G) cgc (R) tgc (C) agg (R) agc (S) tgt (C) gcc (A) gcc (A) agc (S) gca (A) tcg (S) tgg (W) cca (P) ccg (P) tgg (W) gcc (A) gcg (A) aga (R) acc (T) tgg (W) ctc (L) gca (A) tcc (S) ccc (P) tca (S) acc (T) ccg (P) tcc (S) tcc (S) gcg (A) act (T) acc (T) tga (TER) wild type sequence in deletion region: atg (M) ctg (L) ggg (G) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: atg (M) atg (M) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 41 162 L 202 * 41 haematopoietic_and_lymphoid_tissue SOCS1 1 c.490_490delG p.A164fs*41 length of cdnaseq = 636 length of protseq = 211 490 490 G 1 164 1 164 1 g Total no. of codons in cdna seq = 212 gcc gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 204 Protein length after deletion = 203 Total no. of codons in del cdnaseq = 212 last codon in array is ga atg (M) ctg (L) ggg (G) gcc (A) gcc (A) ccg (P) ctg (L) cgc (R) cag (Q) atg (M) ctg (L) ggg (G) ccc (P) cgc (R) tgc (C) gcc (A) original frameshift length = 41 frameshift length = 41 frameshifted sequence: ccc (P) cgc (R) tgc (C) gcc (A) agc (S) gcc (A) gcg (A) tgc (C) ggc (G) cgc (R) tgc (C) agg (R) agc (S) tgt (C) gcc (A) gcc (A) agc (S) gca (A) tcg (S) tgg (W) cca (P) ccg (P) tgg (W) gcc (A) gcg (A) aga (R) acc (T) tgg (W) ctc (L) gca (A) tcc (S) ccc (P) tca (S) acc (T) ccg (P) tcc (S) tcc (S) gcg (A) act (T) acc (T) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 41 164 A 204 * 41 haematopoietic_and_lymphoid_tissue SOCS1 2 c.108_171del64 p.A37fs*27 length of cdnaseq = 636 length of protseq = 211 108 171 64 64 36 3 57 3 cgcgcgcccgcggccgtgccccgcggtcccggccccggcccccggcgacacgcacttccgcaca Total no. of codons in cdna seq = 212 ccc aca start c-c post t end a-t cc- --- frameshift deletion length of cdnaseq after deletion = 572 ter codon is tga at posn 63 Protein length after deletion = 62 Total no. of codons in del cdnaseq = 191 last codon in array is ga ccc (P) gcg (A) gcc (A) ccc (P) aca (T) ttc (F) cgt (R) tcg (S) cac (H) ccc (P) gcg (A) gcc (A) cct (P) tcc (S) gtt (V) cgc (R) original frameshift length = 28 frameshift length = 28 frameshifted sequence: cct (P) tcc (S) gtt (V) cgc (R) acg (T) ccg (P) att (I) acc (T) ggc (G) gca (A) tca (S) cgc (R) gcg (A) cca (P) gcg (A) cgc (R) tcc (S) tgg (W) acg (T) cct (P) gcg (A) gat (D) tct (S) act (T) ggg (G) ggc (G) ccc (P) tga (TER) wild type sequence in deletion region: ccc (P) gcg (A) cgc (R) ccg (P) cgg (R) ccg (P) tgc (C) ccc (P) gcg (A) gtc (V) ccg (P) gcc (A) ccg (P) gcc (A) ccc (P) ggc (G) gac (D) acg (T) cac (H) ttc (F) cgc (R) aca (T) wt frameshift deln region length = 22 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 27 37 A 63 * 27 haematopoietic_and_lymphoid_tissue SOCS1 2 c.349_359del11 p.V117fs*93 length of cdnaseq = 636 length of protseq = 211 349 359 11 11 117 1 120 2 gtgaagatggc Total no. of codons in cdna seq = 212 gtg gcc prev c start c-g end c-c --- --c frameshift deletion length of cdnaseq after deletion = 625 Total no. of codons in del cdnaseq = 209 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 208 gcc (A) ctt (L) agc (S) gtg (V) gcc (A) tcg (S) gga (G) ccc (P) acg (T) gcc (A) ctt (L) agc (S) ctc (L) ggg (G) acc (T) cac (H) original frameshift length = 93 frameshift length = 92 frameshifted sequence: ctc (L) ggg (G) acc (T) cac (H) gag (E) cat (H) ccg (P) cgt (R) gca (A) ctt (L) tca (S) ggc (G) cgg (R) ccg (P) ctt (L) tca (S) cct (P) gga (G) tgg (W) cag (Q) ccg (P) cga (R) gag (E) ctt (L) cga (R) ctg (L) cct (P) ctt (L) cga (R) gct (A) gct (A) gga (G) gca (A) cta (L) cgt (R) ggc (G) ggc (G) gcc (A) gcg (A) ccg (P) cat (H) gct (A) ggg (G) ggc (G) ccc (P) gct (A) gcg (A) cca (P) gcg (A) ccg (P) cgt (R) gcg (A) gcc (A) gct (A) gca (A) gga (G) gct (A) gtg (V) ccg (P) cca (P) gcg (A) cat (H) cgt (R) ggc (G) cac (H) cgt (R) ggg (G) ccg (P) cga (R) gaa (E) cct (P) ggc (G) tcg (S) cat (H) ccc (P) cct (P) caa (Q) ccc (P) cgt (R) cct (P) ccg (P) cga (R) cta (L) cct (P) gag (E) ctc (L) ctt (L) ccc (P) ctt (L) cca (P) gat (D) ttg (L) a (end) wild type sequence in deletion region: gtg (V) aag (K) atg (M) gcc (A) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 92 117 V 209 * 93 haematopoietic_and_lymphoid_tissue SOCS1 2 c.454_464del11 p.E152fs*58 length of cdnaseq = 636 length of protseq = 211 454 464 11 11 152 1 155 2 gagcactacgt Total no. of codons in cdna seq = 212 gag gtg prev g start g-g end t-g --- --g frameshift deletion length of cdnaseq after deletion = 625 Total no. of codons in del cdnaseq = 209 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 208 gag (E) ctg (L) ctg (L) gag (E) gtg (V) gcg (A) gcg (A) ccg (P) cgc (R) gag (E) ctg (L) ctg (L) ggc (G) ggc (G) gcc (A) gcg (A) original frameshift length = 58 frameshift length = 57 frameshifted sequence: ggc (G) ggc (G) gcc (A) gcg (A) ccg (P) cat (H) gct (A) ggg (G) ggc (G) ccc (P) gct (A) gcg (A) cca (P) gcg (A) ccg (P) cgt (R) gcg (A) gcc (A) gct (A) gca (A) gga (G) gct (A) gtg (V) ccg (P) cca (P) gcg (A) cat (H) cgt (R) ggc (G) cac (H) cgt (R) ggg (G) ccg (P) cga (R) gaa (E) cct (P) ggc (G) tcg (S) cat (H) ccc (P) cct (P) caa (Q) ccc (P) cgt (R) cct (P) ccg (P) cga (R) cta (L) cct (P) gag (E) ctc (L) ctt (L) ccc (P) ctt (L) cca (P) gat (D) ttg (L) a (end) wild type sequence in deletion region: gag (E) cac (H) tac (Y) gtg (V) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 57 152 E 209 * 58 haematopoietic_and_lymphoid_tissue SOCS1 3 c.526_533delGAGCTGTG p.E176fs*35 length of cdnaseq = 636 length of protseq = 211 526 533 GAGCTGTG 8 176 1 178 2 gagctgtg Total no. of codons in cdna seq = 212 gag tgc prev g start g-g end g-c --- --c frameshift deletion length of cdnaseq after deletion = 628 Total no. of codons in del cdnaseq = 210 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 209 ccg (P) ctg (L) cag (Q) gag (E) tgc (C) cgc (R) cag (Q) cgc (R) atc (I) ccg (P) ctg (L) cag (Q) ccg (P) cca (P) gcg (A) cat (H) original frameshift length = 35 frameshift length = 34 frameshifted sequence: ccg (P) cca (P) gcg (A) cat (H) cgt (R) ggc (G) cac (H) cgt (R) ggg (G) ccg (P) cga (R) gaa (E) cct (P) ggc (G) tcg (S) cat (H) ccc (P) cct (P) caa (Q) ccc (P) cgt (R) cct (P) ccg (P) cga (R) cta (L) cct (P) gag (E) ctc (L) ctt (L) ccc (P) ctt (L) cca (P) gat (D) ttg (L) a (end) wild type sequence in deletion region: gag (E) ctg (L) tgc (C) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 34 176 E 210 * 35 large_intestine STK11 1 c.607_610delCCGT p.P203fs*83 length of cdnaseq = 1302 length of protseq = 433 607 610 CCGT 4 203 1 204 1 ccgt Total no. of codons in cdna seq = 434 ccg ttc prev c start c-c end t-t --- -tc frameshift deletion length of cdnaseq after deletion = 1298 ter codon is tga at posn 285 Protein length after deletion = 284 Total no. of codons in del cdnaseq = 433 last codon in array is ga gca (A) ctg (L) cac (H) ccg (P) ttc (F) gcg (A) gcg (A) gac (D) gac (D) gca (A) ctg (L) cac (H) tcg (S) cgg (R) cgg (R) acg (T) original frameshift length = 83 frameshift length = 83 frameshifted sequence: tcg (S) cgg (R) cgg (R) acg (T) aca (T) cct (P) gcc (A) gga (G) cca (P) gcc (A) agg (R) gct (A) ccc (P) cgg (R) ctt (L) tcc (S) agc (S) cgc (R) ccg (P) aga (R) ttg (L) cca (P) acg (T) gcc (A) tgg (W) aca (T) cct (P) tct (S) ccg (P) gct (A) tca (S) agg (R) tgg (W) aca (T) tct (S) ggt (G) cgg (R) ctg (L) ggg (G) tca (S) ccc (P) tct (S) aca (T) aca (T) tca (S) cca (P) cgg (R) gtc (V) tgt (C) acc (T) cct (P) tcg (S) aag (K) ggg (G) aca (T) aca (T) tct (S) aca (T) agt (S) tgt (C) ttg (L) aga (R) aca (T) tcg (S) gga (G) agg (R) gga (G) gct (A) acg (T) cca (P) tcc (S) cgg (R) gcg (A) act (T) gtg (V) gcc (A) ccc (P) cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: ccg (P) ttc (F) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 83 203 P 285 * 83 large_intestine STK11 1 c.837_837delC p.P281fs*6 length of cdnaseq = 1302 length of protseq = 433 837 837 C 1 279 3 279 3 c Total no. of codons in cdna seq = 434 ggc ggc start g-c post c end c-c gg- --- frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 286 Protein length after deletion = 285 Total no. of codons in del cdnaseq = 434 last codon in array is ga ggc (G) gac (D) tgt (C) ggc (G) ggc (G) ccc (P) ccg (P) ctc (L) tct (S) ggc (G) gac (D) tgt (C) ggc (G) ccc (P) cgc (R) tct (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ggc (G) ccc (P) cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggc (G) ggc (G) matching aa in delstart region of wt and deletion mutant: ccc (P) ccc (P) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 6 281 P 286 * 6 large_intestine STK11 1 c.842delC p.P281fs*6 length of cdnaseq = 1302 length of protseq = 433 842 842 C 1 281 2 281 2 c Total no. of codons in cdna seq = 434 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 286 Protein length after deletion = 285 Total no. of codons in del cdnaseq = 434 last codon in array is ga tgt (C) ggc (G) ccc (P) ccg (P) ccg (P) ctc (L) tct (S) gac (D) ctg (L) tgt (C) ggc (G) ccc (P) cgc (R) tct (S) ctg (L) acc (T) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 6 281 P 286 * 6 lung STK11 1 c.120_130del11 p.K41fs*118 length of cdnaseq = 1302 length of protseq = 433 120 130 11 11 40 3 44 1 caagcgggcca Total no. of codons in cdna seq = 434 cgc aag start g-c end a-a cg- -ag frameshift deletion length of cdnaseq after deletion = 1291 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 431 last codon in array is a cag (Q) ccg (P) cgc (R) cgc (R) aag (K) ctc (L) atc (I) ggc (G) aag (K) cag (Q) ccg (P) cgc (R) cga (R) gct (A) cat (H) cgg (R) original frameshift length = 119 frameshift length = 119 frameshifted sequence: cga (R) gct (A) cat (H) cgg (R) caa (Q) gta (V) cct (P) gat (D) ggg (G) gga (G) cct (P) gct (A) ggg (G) gga (G) agg (R) ctc (L) tta (L) cgg (R) caa (Q) ggt (G) gaa (E) gga (G) ggt (G) gct (A) gga (G) ctc (L) gga (G) gac (D) gct (A) gtg (V) cag (Q) gag (E) ggc (G) cgt (R) caa (Q) gat (D) cct (P) caa (Q) gaa (E) gaa (E) gaa (E) gtt (V) gcg (A) aag (K) gat (D) ccc (P) caa (Q) cgg (R) gga (G) ggc (G) caa (Q) cgt (R) gaa (E) gaa (E) gga (G) aat (N) tca (S) act (T) act (T) gag (E) gag (E) gtt (V) acg (T) gca (A) caa (Q) aaa (K) tgt (C) cat (H) cca (P) gct (A) ggt (G) gga (G) tgt (C) gtt (V) ata (I) caa (Q) cga (R) aga (R) gaa (E) gca (A) gaa (E) aat (N) gta (V) tat (Y) ggt (G) gat (D) gga (G) gta (V) ctg (L) cgt (R) gtg (V) tgg (W) cat (H) gca (A) gga (G) aat (N) gct (A) gga (G) cag (Q) cgt (R) gcc (A) gga (G) gaa (E) gcg (A) ttt (F) ccc (P) agt (S) gtg (V) cca (P) ggc (G) cca (P) cgg (R) gta (V) ctt (L) ctg (L) tca (S) gct (A) gat (D) tga (TER) wild type sequence in deletion region: cgc (R) aag (K) cgg (R) gcc (A) aag (K) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: cgc (R) cga (R) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 118 41 K 158 * 118 lung STK11 1 c.129_129delC p.K44fs*7 length of cdnaseq = 1302 length of protseq = 433 129 129 C 1 43 3 43 3 c Total no. of codons in cdna seq = 434 gcc gcc start c-c post a end c-a gc- --- frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 50 Protein length after deletion = 49 Total no. of codons in del cdnaseq = 434 last codon in array is ga cgc (R) aag (K) cgg (R) gcc (A) gcc (A) aag (K) ctc (L) atc (I) ggc (G) cgc (R) aag (K) cgg (R) gca (A) agc (S) tca (S) tcg (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gca (A) agc (S) tca (S) tcg (S) gca (A) agt (S) acc (T) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 7 44 K 50 * 7 lung STK11 1 c.143_143delA p.K48fs*3 length of cdnaseq = 1302 length of protseq = 433 143 143 A 1 48 2 48 2 a Total no. of codons in cdna seq = 434 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 50 Protein length after deletion = 49 Total no. of codons in del cdnaseq = 434 last codon in array is ga ctc (L) atc (I) ggc (G) aag (K) aag (K) tac (Y) ctg (L) atg (M) ggg (G) ctc (L) atc (I) ggc (G) agt (S) acc (T) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: agt (S) acc (T) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 3 48 K 50 * 3 lung STK11 1 c.153_153delG p.D53fs*11 length of cdnaseq = 1302 length of protseq = 433 153 153 G 1 51 3 51 3 g Total no. of codons in cdna seq = 434 atg atg start t-g post g end g-g at- --- frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 63 Protein length after deletion = 62 Total no. of codons in del cdnaseq = 434 last codon in array is ga aag (K) tac (Y) ctg (L) atg (M) atg (M) ggg (G) gac (D) ctg (L) ctg (L) aag (K) tac (Y) ctg (L) atg (M) ggg (G) acc (T) tgc (C) original frameshift length = 13 frameshift length = 13 frameshifted sequence: atg (M) ggg (G) acc (T) tgc (C) tgg (W) ggg (G) aag (K) gct (A) ctt (L) acg (T) gca (A) agg (R) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: atg (M) atg (M) matching aa in delstart region of wt and deletion mutant: ggg (G) ggg (G) first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 11 53 D 63 * 11 lung STK11 1 c.180_180delC p.Y60fs*1 length of cdnaseq = 1302 length of protseq = 433 180 180 C 1 60 3 60 3 c Total no. of codons in cdna seq = 434 tac tac start a-c post g end c-g ta- --- frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tag at posn 60 Protein length after deletion = 59 Total no. of codons in del cdnaseq = 434 last codon in array is ga gaa (E) ggc (G) tct (S) tac (Y) tac (Y) ggc (G) aag (K) gtg (V) aag (K) gaa (E) ggc (G) tct (S) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 1 60 Y 60 * 1 lung STK11 1 c.209_209delA p.E70fs*26 length of cdnaseq = 1302 length of protseq = 433 209 209 A 1 70 2 70 2 a Total no. of codons in cdna seq = 434 gag gag start g-a end a-g g-- --g frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 95 Protein length after deletion = 94 Total no. of codons in del cdnaseq = 434 last codon in array is ga ctg (L) gac (D) tcg (S) gag (E) gag (E) acg (T) ctg (L) tgc (C) agg (R) ctg (L) gac (D) tcg (S) gga (G) cgc (R) tgt (C) gca (A) original frameshift length = 26 frameshift length = 26 frameshifted sequence: gga (G) cgc (R) tgt (C) gca (A) gga (G) ggg (G) ccg (P) tca (S) aga (R) tcc (S) tca (S) aga (R) aga (R) aga (R) agt (S) tgc (C) gaa (E) gga (G) tcc (S) cca (P) acg (T) ggg (G) agg (R) cca (P) acg (T) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 26 70 E 95 * 26 lung STK11 1 c.228_228delC p.V77fs*19 length of cdnaseq = 1302 length of protseq = 433 228 228 C 1 76 3 76 3 c Total no. of codons in cdna seq = 434 gcc gcc start c-c post g end c-g gc- --- frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 95 Protein length after deletion = 94 Total no. of codons in del cdnaseq = 434 last codon in array is ga tgc (C) agg (R) agg (R) gcc (A) gcc (A) gtc (V) aag (K) atc (I) ctc (L) tgc (C) agg (R) agg (R) gcg (A) tca (S) aga (R) tcc (S) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gcg (A) tca (S) aga (R) tcc (S) tca (S) aga (R) aga (R) aga (R) agt (S) tgc (C) gaa (E) gga (G) tcc (S) cca (P) acg (T) ggg (G) agg (R) cca (P) acg (T) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gcg (A) first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 19 77 V 95 * 19 lung STK11 1 c.291_597del307 p.E98fs*87 length of cdnaseq = 1302 length of protseq = 433 291 597 307 307 97 3 199 3 ggaaattcaactactgaggaggttacggcacaaaaatgtcatccagctggtggatgtgttatacaacgaagagaagcagaaaatgtatatggtgatggagtactgcgtgtgtggcatgcaggaaatgctggacagcgtgccggagaagcgtttcccagtgtgccaggcccacgggtacttctgtcagctgattgacggcctggagtacctgcatagccagggcattgtgcacaaggacatcaagccggggaacctgctgctcaccaccggtggcaccctcaaaatctccgacctgggcgtggccgag Total no. of codons in cdna seq = 434 aag gag start a-g post g end g-g aa- --- frameshift deletion length of cdnaseq after deletion = 995 ter codon is tga at posn 184 Protein length after deletion = 183 Total no. of codons in del cdnaseq = 332 last codon in array is ga aac (N) gtg (V) aag (K) aag (K) gag (E) gca (A) ctg (L) cac (H) ccg (P) aac (N) gtg (V) aag (K) aag (K) cac (H) tgc (C) acc (T) original frameshift length = 88 frameshift length = 88 frameshifted sequence: aag (K) cac (H) tgc (C) acc (T) cgt (R) tcg (S) cgg (R) cgg (R) acg (T) aca (T) cct (P) gcc (A) gga (G) cca (P) gcc (A) agg (R) gct (A) ccc (P) cgg (R) ctt (L) tcc (S) agc (S) cgc (R) ccg (P) aga (R) ttg (L) cca (P) acg (T) gcc (A) tgg (W) aca (T) cct (P) tct (S) ccg (P) gct (A) tca (S) agg (R) tgg (W) aca (T) tct (S) ggt (G) cgg (R) ctg (L) ggg (G) tca (S) ccc (P) tct (S) aca (T) aca (T) tca (S) cca (P) cgg (R) gtc (V) tgt (C) acc (T) cct (P) tcg (S) aag (K) ggg (G) aca (T) aca (T) tct (S) aca (T) agt (S) tgt (C) ttg (L) aga (R) aca (T) tcg (S) gga (G) agg (R) gga (G) gct (A) acg (T) cca (P) tcc (S) cgg (R) gcg (A) act (T) gtg (V) gcc (A) ccc (P) cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: aag (K) gaa (E) att (I) caa (Q) cta (L) ctg (L) agg (R) agg (R) tta (L) cgg (R) cac (H) aaa (K) aat (N) gtc (V) atc (I) cag (Q) ctg (L) gtg (V) gat (D) gtg (V) tta (L) tac (Y) aac (N) gaa (E) gag (E) aag (K) cag (Q) aaa (K) atg (M) tat (Y) atg (M) gtg (V) atg (M) gag (E) tac (Y) tgc (C) gtg (V) tgt (C) ggc (G) atg (M) cag (Q) gaa (E) atg (M) ctg (L) gac (D) agc (S) gtg (V) ccg (P) gag (E) aag (K) cgt (R) ttc (F) cca (P) gtg (V) tgc (C) cag (Q) gcc (A) cac (H) ggg (G) tac (Y) ttc (F) tgt (C) cag (Q) ctg (L) att (I) gac (D) ggc (G) ctg (L) gag (E) tac (Y) ctg (L) cat (H) agc (S) cag (Q) ggc (G) att (I) gtg (V) cac (H) aag (K) gac (D) atc (I) aag (K) ccg (P) ggg (G) aac (N) ctg (L) ctg (L) ctc (L) acc (T) acc (T) ggt (G) ggc (G) acc (T) ctc (L) aaa (K) atc (I) tcc (S) gac (D) ctg (L) ggc (G) gtg (V) gcc (A) gag (E) wt frameshift deln region length = 103 matching aa in delstart region of wt and deletion mutant: aag (K) aag (K) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 87 98 E 184 * 87 lung STK11 1 c.47_651del605 p.E16fs*48 length of cdnaseq = 1302 length of protseq = 433 47 651 605 605 16 2 217 3 agctgatgtcggtgggtatggacacgttcatccaccgcatcgactccaccgaggtcatctaccagccgcgccgcaagcgggccaagctcatcggcaagtacctgatgggggacctgctgggggaaggctcttacggcaaggtgaaggaggtgctggactcggagacgctgtgcaggagggccgtcaagatcctcaagaagaagaagttgcgaaggatccccaacggggaggccaacgtgaagaaggaaattcaactactgaggaggttacggcacaaaaatgtcatccagctggtggatgtgttatacaacgaagagaagcagaaaatgtatatggtgatggagtactgcgtgtgtggcatgcaggaaatgctggacagcgtgccggagaagcgtttcccagtgtgccaggcccacgggtacttctgtcagctgattgacggcctggagtacctgcatagccagggcattgtgcacaaggacatcaagccggggaacctgctgctcaccaccggtggcaccctcaaaatctccgacctgggcgtggccgaggcactgcacccgttcgcggcggacgacacctgccggaccagccagggctccccg Total no. of codons in cdna seq = 434 gag ccg start g-a post g end g-g g-- --- frameshift deletion length of cdnaseq after deletion = 697 ter codon is tga at posn 63 Protein length after deletion = 62 Total no. of codons in del cdnaseq = 233 last codon in array is a acg (T) gag (E) ggc (G) gag (E) ccg (P) gct (A) ttc (F) cag (Q) ccg (P) acg (T) gag (E) ggc (G) ggc (G) ttt (F) cca (P) gcc (A) original frameshift length = 48 frameshift length = 48 frameshifted sequence: ggc (G) ttt (F) cca (P) gcc (A) gcc (A) cga (R) gat (D) tgc (C) caa (Q) cgg (R) cct (P) gga (G) cac (H) ctt (L) ctc (L) cgg (R) ctt (L) caa (Q) ggt (G) gga (G) cat (H) ctg (L) gtc (V) ggc (G) tgg (W) ggt (G) cac (H) cct (P) cta (L) caa (Q) cat (H) cac (H) cac (H) ggg (G) tct (S) gta (V) ccc (P) ctt (L) cga (R) agg (R) gga (G) caa (Q) cat (H) cta (L) caa (Q) gtt (V) gtt (V) tga (TER) wild type sequence in deletion region: gag (E) ctg (L) atg (M) tcg (S) gtg (V) ggt (G) atg (M) gac (D) acg (T) ttc (F) atc (I) cac (H) cgc (R) atc (I) gac (D) tcc (S) acc (T) gag (E) gtc (V) atc (I) tac (Y) cag (Q) ccg (P) cgc (R) cgc (R) aag (K) cgg (R) gcc (A) aag (K) ctc (L) atc (I) ggc (G) aag (K) tac (Y) ctg (L) atg (M) ggg (G) gac (D) ctg (L) ctg (L) ggg (G) gaa (E) ggc (G) tct (S) tac (Y) ggc (G) aag (K) gtg (V) aag (K) gag (E) gtg (V) ctg (L) gac (D) tcg (S) gag (E) acg (T) ctg (L) tgc (C) agg (R) agg (R) gcc (A) gtc (V) aag (K) atc (I) ctc (L) aag (K) aag (K) aag (K) aag (K) ttg (L) cga (R) agg (R) atc (I) ccc (P) aac (N) ggg (G) gag (E) gcc (A) aac (N) gtg (V) aag (K) aag (K) gaa (E) att (I) caa (Q) cta (L) ctg (L) agg (R) agg (R) tta (L) cgg (R) cac (H) aaa (K) aat (N) gtc (V) atc (I) cag (Q) ctg (L) gtg (V) gat (D) gtg (V) tta (L) tac (Y) aac (N) gaa (E) gag (E) aag (K) cag (Q) aaa (K) atg (M) tat (Y) atg (M) gtg (V) atg (M) gag (E) tac (Y) tgc (C) gtg (V) tgt (C) ggc (G) atg (M) cag (Q) gaa (E) atg (M) ctg (L) gac (D) agc (S) gtg (V) ccg (P) gag (E) aag (K) cgt (R) ttc (F) cca (P) gtg (V) tgc (C) cag (Q) gcc (A) cac (H) ggg (G) tac (Y) ttc (F) tgt (C) cag (Q) ctg (L) att (I) gac (D) ggc (G) ctg (L) gag (E) tac (Y) ctg (L) cat (H) agc (S) cag (Q) ggc (G) att (I) gtg (V) cac (H) aag (K) gac (D) atc (I) aag (K) ccg (P) ggg (G) aac (N) ctg (L) ctg (L) ctc (L) acc (T) acc (T) ggt (G) ggc (G) acc (T) ctc (L) aaa (K) atc (I) tcc (S) gac (D) ctg (L) ggc (G) gtg (V) gcc (A) gag (E) gca (A) ctg (L) cac (H) ccg (P) ttc (F) gcg (A) gcg (A) gac (D) gac (D) acc (T) tgc (C) cgg (R) acc (T) agc (S) cag (Q) ggc (G) tcc (S) ccg (P) wt frameshift deln region length = 202 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 48 16 E 63 * 48 lung STK11 1 c.563_563delG p.G188fs*99 length of cdnaseq = 1302 length of protseq = 433 563 563 G 1 188 2 188 2 g Total no. of codons in cdna seq = 434 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 286 Protein length after deletion = 285 Total no. of codons in del cdnaseq = 434 last codon in array is ga acc (T) acc (T) ggt (G) ggc (G) ggc (G) acc (T) ctc (L) aaa (K) atc (I) acc (T) acc (T) ggt (G) gca (A) ccc (P) tca (S) aaa (K) original frameshift length = 99 frameshift length = 99 frameshifted sequence: gca (A) ccc (P) tca (S) aaa (K) tct (S) ccg (P) acc (T) tgg (W) gcg (A) tgg (W) ccg (P) agg (R) cac (H) tgc (C) acc (T) cgt (R) tcg (S) cgg (R) cgg (R) acg (T) aca (T) cct (P) gcc (A) gga (G) cca (P) gcc (A) agg (R) gct (A) ccc (P) cgg (R) ctt (L) tcc (S) agc (S) cgc (R) ccg (P) aga (R) ttg (L) cca (P) acg (T) gcc (A) tgg (W) aca (T) cct (P) tct (S) ccg (P) gct (A) tca (S) agg (R) tgg (W) aca (T) tct (S) ggt (G) cgg (R) ctg (L) ggg (G) tca (S) ccc (P) tct (S) aca (T) aca (T) tca (S) cca (P) cgg (R) gtc (V) tgt (C) acc (T) cct (P) tcg (S) aag (K) ggg (G) aca (T) aca (T) tct (S) aca (T) agt (S) tgt (C) ttg (L) aga (R) aca (T) tcg (S) gga (G) agg (R) gga (G) gct (A) acg (T) cca (P) tcc (S) cgg (R) gcg (A) act (T) gtg (V) gcc (A) ccc (P) cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 99 188 G 286 * 99 lung STK11 1 c.598delG p.A200fs*87 length of cdnaseq = 1302 length of protseq = 433 598 598 G 1 200 1 200 1 g Total no. of codons in cdna seq = 434 gca gca prev g start g-g end g-c --- -ca frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 286 Protein length after deletion = 285 Total no. of codons in del cdnaseq = 434 last codon in array is ga gtg (V) gcc (A) gag (E) gca (A) gca (A) ctg (L) cac (H) ccg (P) ttc (F) gtg (V) gcc (A) gag (E) cac (H) tgc (C) acc (T) cgt (R) original frameshift length = 87 frameshift length = 87 frameshifted sequence: cac (H) tgc (C) acc (T) cgt (R) tcg (S) cgg (R) cgg (R) acg (T) aca (T) cct (P) gcc (A) gga (G) cca (P) gcc (A) agg (R) gct (A) ccc (P) cgg (R) ctt (L) tcc (S) agc (S) cgc (R) ccg (P) aga (R) ttg (L) cca (P) acg (T) gcc (A) tgg (W) aca (T) cct (P) tct (S) ccg (P) gct (A) tca (S) agg (R) tgg (W) aca (T) tct (S) ggt (G) cgg (R) ctg (L) ggg (G) tca (S) ccc (P) tct (S) aca (T) aca (T) tca (S) cca (P) cgg (R) gtc (V) tgt (C) acc (T) cct (P) tcg (S) aag (K) ggg (G) aca (T) aca (T) tct (S) aca (T) agt (S) tgt (C) ttg (L) aga (R) aca (T) tcg (S) gga (G) agg (R) gga (G) gct (A) acg (T) cca (P) tcc (S) cgg (R) gcg (A) act (T) gtg (V) gcc (A) ccc (P) cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: gca (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 87 200 A 286 * 87 lung STK11 1 c.610_623del14 p.F204fs*57 length of cdnaseq = 1302 length of protseq = 433 610 623 14 14 204 1 208 2 ttcgcggcggacga Total no. of codons in cdna seq = 434 ttc gac prev g start g-t end a-c --- --c frameshift deletion length of cdnaseq after deletion = 1288 ter codon is tga at posn 260 Protein length after deletion = 259 Total no. of codons in del cdnaseq = 430 last codon in array is a ctg (L) cac (H) ccg (P) ttc (F) gac (D) acc (T) tgc (C) cgg (R) acc (T) ctg (L) cac (H) ccg (P) cac (H) ctg (L) ccg (P) gac (D) original frameshift length = 57 frameshift length = 57 frameshifted sequence: cac (H) ctg (L) ccg (P) gac (D) cag (Q) cca (P) ggg (G) ctc (L) ccc (P) ggc (G) ttt (F) cca (P) gcc (A) gcc (A) cga (R) gat (D) tgc (C) caa (Q) cgg (R) cct (P) gga (G) cac (H) ctt (L) ctc (L) cgg (R) ctt (L) caa (Q) ggt (G) gga (G) cat (H) ctg (L) gtc (V) ggc (G) tgg (W) ggt (G) cac (H) cct (P) cta (L) caa (Q) cat (H) cac (H) cac (H) ggg (G) tct (S) gta (V) ccc (P) ctt (L) cga (R) agg (R) gga (G) caa (Q) cat (H) cta (L) caa (Q) gtt (V) gtt (V) tga (TER) wild type sequence in deletion region: ttc (F) gcg (A) gcg (A) gac (D) gac (D) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 57 204 F 260 * 57 lung STK11 1 c.633delG p.T212fs*75 length of cdnaseq = 1302 length of protseq = 433 633 633 G 1 211 3 211 3 g Total no. of codons in cdna seq = 434 cgg cgg start g-g post a end g-a cg- --- frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 286 Protein length after deletion = 285 Total no. of codons in del cdnaseq = 434 last codon in array is ga gac (D) acc (T) tgc (C) cgg (R) cgg (R) acc (T) agc (S) cag (Q) ggc (G) gac (D) acc (T) tgc (C) cga (R) cca (P) gcc (A) agg (R) original frameshift length = 76 frameshift length = 76 frameshifted sequence: cga (R) cca (P) gcc (A) agg (R) gct (A) ccc (P) cgg (R) ctt (L) tcc (S) agc (S) cgc (R) ccg (P) aga (R) ttg (L) cca (P) acg (T) gcc (A) tgg (W) aca (T) cct (P) tct (S) ccg (P) gct (A) tca (S) agg (R) tgg (W) aca (T) tct (S) ggt (G) cgg (R) ctg (L) ggg (G) tca (S) ccc (P) tct (S) aca (T) aca (T) tca (S) cca (P) cgg (R) gtc (V) tgt (C) acc (T) cct (P) tcg (S) aag (K) ggg (G) aca (T) aca (T) tct (S) aca (T) agt (S) tgt (C) ttg (L) aga (R) aca (T) tcg (S) gga (G) agg (R) gga (G) gct (A) acg (T) cca (P) tcc (S) cgg (R) gcg (A) act (T) gtg (V) gcc (A) ccc (P) cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgg (R) cga (R) first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 75 212 T 286 * 75 lung STK11 1 c.735_862del128 p.Y246fs*3 length of cdnaseq = 1302 length of protseq = 433 735 862 128 128 245 3 288 1 ctacaacatcaccacgggtctgtaccccttcgaaggggacaacatctacaagttgtttgagaacatcgggaaggggagctacgccatcccgggcgactgtggccccccgctctctgacctgctgaaag Total no. of codons in cdna seq = 434 ctc ggg start t-c end g-g ct- -gg frameshift deletion length of cdnaseq after deletion = 1174 ter codon is tga at posn 248 Protein length after deletion = 247 Total no. of codons in del cdnaseq = 392 last codon in array is a ggg (G) gtc (V) acc (T) ctc (L) ggg (G) atg (M) ctt (L) gag (E) tac (Y) ggg (G) gtc (V) acc (T) ctg (L) gat (D) gct (A) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: ctg (L) gat (D) gct (A) tga (TER) wild type sequence in deletion region: ctc (L) tac (Y) aac (N) atc (I) acc (T) acg (T) ggt (G) ctg (L) tac (Y) ccc (P) ttc (F) gaa (E) ggg (G) gac (D) aac (N) atc (I) tac (Y) aag (K) ttg (L) ttt (F) gag (E) aac (N) atc (I) ggg (G) aag (K) ggg (G) agc (S) tac (Y) gcc (A) atc (I) ccg (P) ggc (G) gac (D) tgt (C) ggc (G) ccc (P) ccg (P) ctc (L) tct (S) gac (D) ctg (L) ctg (L) aaa (K) ggg (G) wt frameshift deln region length = 44 matching aa in delstart region of wt and deletion mutant: ctc (L) ctg (L) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 3 246 Y 248 * 3 lung STK11 1 c.827_827delG p.G276fs*11 length of cdnaseq = 1302 length of protseq = 433 827 827 G 1 276 2 276 2 g Total no. of codons in cdna seq = 434 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 286 Protein length after deletion = 285 Total no. of codons in del cdnaseq = 434 last codon in array is ga gcc (A) atc (I) ccg (P) ggc (G) ggc (G) gac (D) tgt (C) ggc (G) ccc (P) gcc (A) atc (I) ccg (P) gcg (A) act (T) gtg (V) gcc (A) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gcg (A) act (T) gtg (V) gcc (A) ccc (P) cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 11 276 G 286 * 11 lung STK11 1 c.837_837delC p.P281fs*6 length of cdnaseq = 1302 length of protseq = 433 837 837 C 1 279 3 279 3 c Total no. of codons in cdna seq = 434 ggc ggc start g-c post c end c-c gg- --- frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 286 Protein length after deletion = 285 Total no. of codons in del cdnaseq = 434 last codon in array is ga ggc (G) gac (D) tgt (C) ggc (G) ggc (G) ccc (P) ccg (P) ctc (L) tct (S) ggc (G) gac (D) tgt (C) ggc (G) ccc (P) cgc (R) tct (S) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ggc (G) ccc (P) cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggc (G) ggc (G) matching aa in delstart region of wt and deletion mutant: ccc (P) ccc (P) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 6 281 P 286 * 6 pancreas STK11 1 c.936_936delA p.K312fs*24 length of cdnaseq = 1302 length of protseq = 433 936 936 A 1 312 3 312 3 a Total no. of codons in cdna seq = 434 aaa aaa start a-a post c end a-c aa- --- frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 335 Protein length after deletion = 334 Total no. of codons in del cdnaseq = 434 last codon in array is ga ttc (F) cgg (R) aag (K) aaa (K) aaa (K) cat (H) cct (P) ccg (P) gct (A) ttc (F) cgg (R) aag (K) aac (N) atc (I) ctc (L) cgg (R) original frameshift length = 24 frameshift length = 24 frameshifted sequence: aac (N) atc (I) ctc (L) cgg (R) ctg (L) aag (K) cac (H) cag (Q) tgc (C) cca (P) tcc (S) cac (H) cga (R) gcc (A) cag (Q) aca (T) cca (P) agg (R) acc (T) ggt (G) ggc (G) gca (A) gca (A) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 24 312 K 335 * 24 prostate STK11 1 c.532_536delAAGCC p.K178fs*86 length of cdnaseq = 1302 length of protseq = 433 532 536 AAGCC 5 178 1 179 2 aagcc Total no. of codons in cdna seq = 434 aag ccg prev c start c-a end c-g --- --g frameshift deletion length of cdnaseq after deletion = 1297 ter codon is tga at posn 263 Protein length after deletion = 262 Total no. of codons in del cdnaseq = 433 last codon in array is a aag (K) gac (D) atc (I) aag (K) ccg (P) ggg (G) aac (N) ctg (L) ctg (L) aag (K) gac (D) atc (I) ggg (G) gaa (E) cct (P) gct (A) original frameshift length = 86 frameshift length = 86 frameshifted sequence: ggg (G) gaa (E) cct (P) gct (A) gct (A) cac (H) cac (H) cgg (R) tgg (W) cac (H) cct (P) caa (Q) aat (N) ctc (L) cga (R) cct (P) ggg (G) cgt (R) ggc (G) cga (R) ggc (G) act (T) gca (A) ccc (P) gtt (V) cgc (R) ggc (G) gga (G) cga (R) cac (H) ctg (L) ccg (P) gac (D) cag (Q) cca (P) ggg (G) ctc (L) ccc (P) ggc (G) ttt (F) cca (P) gcc (A) gcc (A) cga (R) gat (D) tgc (C) caa (Q) cgg (R) cct (P) gga (G) cac (H) ctt (L) ctc (L) cgg (R) ctt (L) caa (Q) ggt (G) gga (G) cat (H) ctg (L) gtc (V) ggc (G) tgg (W) ggt (G) cac (H) cct (P) cta (L) caa (Q) cat (H) cac (H) cac (H) ggg (G) tct (S) gta (V) ccc (P) ctt (L) cga (R) agg (R) gga (G) caa (Q) cat (H) cta (L) caa (Q) gtt (V) gtt (V) tga (TER) wild type sequence in deletion region: aag (K) ccg (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 86 178 K 263 * 86 skin STK11 1 c.842delC p.P281fs*6 length of cdnaseq = 1302 length of protseq = 433 842 842 C 1 281 2 281 2 c Total no. of codons in cdna seq = 434 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 286 Protein length after deletion = 285 Total no. of codons in del cdnaseq = 434 last codon in array is ga tgt (C) ggc (G) ccc (P) ccg (P) ccg (P) ctc (L) tct (S) gac (D) ctg (L) tgt (C) ggc (G) ccc (P) cgc (R) tct (S) ctg (L) acc (T) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 6 281 P 286 * 6 pancreas STK11 2 c.650_650delC p.P217fs*70 length of cdnaseq = 1302 length of protseq = 433 650 650 C 1 217 2 217 2 c Total no. of codons in cdna seq = 434 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 286 Protein length after deletion = 285 Total no. of codons in del cdnaseq = 434 last codon in array is ga cag (Q) ggc (G) tcc (S) ccg (P) ccg (P) gct (A) ttc (F) cag (Q) ccg (P) cag (Q) ggc (G) tcc (S) cgg (R) ctt (L) tcc (S) agc (S) original frameshift length = 70 frameshift length = 70 frameshifted sequence: cgg (R) ctt (L) tcc (S) agc (S) cgc (R) ccg (P) aga (R) ttg (L) cca (P) acg (T) gcc (A) tgg (W) aca (T) cct (P) tct (S) ccg (P) gct (A) tca (S) agg (R) tgg (W) aca (T) tct (S) ggt (G) cgg (R) ctg (L) ggg (G) tca (S) ccc (P) tct (S) aca (T) aca (T) tca (S) cca (P) cgg (R) gtc (V) tgt (C) acc (T) cct (P) tcg (S) aag (K) ggg (G) aca (T) aca (T) tct (S) aca (T) agt (S) tgt (C) ttg (L) aga (R) aca (T) tcg (S) gga (G) agg (R) gga (G) gct (A) acg (T) cca (P) tcc (S) cgg (R) gcg (A) act (T) gtg (V) gcc (A) ccc (P) cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 70 217 P 286 * 70 lung STK11 3 c.169delG p.E57fs*7 length of cdnaseq = 1302 length of protseq = 433 169 169 G 1 57 1 57 1 g Total no. of codons in cdna seq = 434 gaa gaa prev g start g-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 63 Protein length after deletion = 62 Total no. of codons in del cdnaseq = 434 last codon in array is ga ctg (L) ctg (L) ggg (G) gaa (E) gaa (E) ggc (G) tct (S) tac (Y) ggc (G) ctg (L) ctg (L) ggg (G) aag (K) gct (A) ctt (L) acg (T) original frameshift length = 7 frameshift length = 7 frameshifted sequence: aag (K) gct (A) ctt (L) acg (T) gca (A) agg (R) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 7 57 E 63 * 7 gastrointestinal_tract_site_indeterminate STK11 4 c.787_790delTTGT p.F264fs*22 length of cdnaseq = 1302 length of protseq = 433 787 790 TTGT 4 263 1 264 1 ttgt Total no. of codons in cdna seq = 434 ttg ttt prev g start g-t end t-t --- -tt frameshift deletion length of cdnaseq after deletion = 1298 ter codon is tga at posn 285 Protein length after deletion = 284 Total no. of codons in del cdnaseq = 433 last codon in array is ga atc (I) tac (Y) aag (K) ttg (L) ttt (F) gag (E) aac (N) atc (I) ggg (G) atc (I) tac (Y) aag (K) ttg (L) aga (R) aca (T) tcg (S) original frameshift length = 23 frameshift length = 23 frameshifted sequence: ttg (L) aga (R) aca (T) tcg (S) gga (G) agg (R) gga (G) gct (A) acg (T) cca (P) tcc (S) cgg (R) gcg (A) act (T) gtg (V) gcc (A) ccc (P) cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: ttg (L) ttt (F) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ttg (L) ttg (L) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 22 264 F 285 * 22 lung STK11 4 c.465_597del133 p.Y156fs*87 length of cdnaseq = 1302 length of protseq = 433 465 597 133 133 155 3 199 3 gtacttctgtcagctgattgacggcctggagtacctgcatagccagggcattgtgcacaaggacatcaagccggggaacctgctgctcaccaccggtggcaccctcaaaatctccgacctgggcgtggccgag Total no. of codons in cdna seq = 434 ggg gag start g-g post g end g-g gg- --- frameshift deletion length of cdnaseq after deletion = 1169 ter codon is tga at posn 242 Protein length after deletion = 241 Total no. of codons in del cdnaseq = 390 last codon in array is ga cag (Q) gcc (A) cac (H) ggg (G) gag (E) gca (A) ctg (L) cac (H) ccg (P) cag (Q) gcc (A) cac (H) ggg (G) cac (H) tgc (C) acc (T) original frameshift length = 88 frameshift length = 88 frameshifted sequence: ggg (G) cac (H) tgc (C) acc (T) cgt (R) tcg (S) cgg (R) cgg (R) acg (T) aca (T) cct (P) gcc (A) gga (G) cca (P) gcc (A) agg (R) gct (A) ccc (P) cgg (R) ctt (L) tcc (S) agc (S) cgc (R) ccg (P) aga (R) ttg (L) cca (P) acg (T) gcc (A) tgg (W) aca (T) cct (P) tct (S) ccg (P) gct (A) tca (S) agg (R) tgg (W) aca (T) tct (S) ggt (G) cgg (R) ctg (L) ggg (G) tca (S) ccc (P) tct (S) aca (T) aca (T) tca (S) cca (P) cgg (R) gtc (V) tgt (C) acc (T) cct (P) tcg (S) aag (K) ggg (G) aca (T) aca (T) tct (S) aca (T) agt (S) tgt (C) ttg (L) aga (R) aca (T) tcg (S) gga (G) agg (R) gga (G) gct (A) acg (T) cca (P) tcc (S) cgg (R) gcg (A) act (T) gtg (V) gcc (A) ccc (P) cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: ggg (G) tac (Y) ttc (F) tgt (C) cag (Q) ctg (L) att (I) gac (D) ggc (G) ctg (L) gag (E) tac (Y) ctg (L) cat (H) agc (S) cag (Q) ggc (G) att (I) gtg (V) cac (H) aag (K) gac (D) atc (I) aag (K) ccg (P) ggg (G) aac (N) ctg (L) ctg (L) ctc (L) acc (T) acc (T) ggt (G) ggc (G) acc (T) ctc (L) aaa (K) atc (I) tcc (S) gac (D) ctg (L) ggc (G) gtg (V) gcc (A) gag (E) wt frameshift deln region length = 45 matching aa in delstart region of wt and deletion mutant: ggg (G) ggg (G) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 87 156 Y 242 * 87 lung STK11 4 c.842delC p.P281fs*6 length of cdnaseq = 1302 length of protseq = 433 842 842 C 1 281 2 281 2 c Total no. of codons in cdna seq = 434 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1301 ter codon is tga at posn 286 Protein length after deletion = 285 Total no. of codons in del cdnaseq = 434 last codon in array is ga tgt (C) ggc (G) ccc (P) ccg (P) ccg (P) ctc (L) tct (S) gac (D) ctg (L) tgt (C) ggc (G) ccc (P) cgc (R) tct (S) ctg (L) acc (T) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cgc (R) tct (S) ctg (L) acc (T) tgc (C) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 6 281 P 286 * 6 central_nervous_system SUFU 1 c.1129_1135delTCCGGAG p.S377fs*7 length of cdnaseq = 1455 length of protseq = 484 1129 1135 TCCGGAG 7 377 1 379 1 tccggag Total no. of codons in cdna seq = 485 tcc gcc prev g start g-t end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 1448 ter codon is taa at posn 383 Protein length after deletion = 382 Total no. of codons in del cdnaseq = 483 last codon in array is ag aac (N) cag (Q) gag (E) tcc (S) gcc (A) ctc (L) att (I) cct (P) ctc (L) aac (N) cag (Q) gag (E) ccc (P) tca (S) ttc (F) ctc (L) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ccc (P) tca (S) ttc (F) ctc (L) tct (S) gcc (A) taa (TER) wild type sequence in deletion region: tcc (S) gga (G) gcc (A) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 7 377 S 383 * 7 central_nervous_system TCF12 1 c.1490_1491delCT p.S497fs*12 length of cdnaseq = 2121 length of protseq = 706 1490 1491 CT 2 497 2 497 3 ct Total no. of codons in cdna seq = 707 tct tct start t-c post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 2119 ter codon is tag at posn 508 Protein length after deletion = 507 Total no. of codons in del cdnaseq = 707 last codon in array is a cgg (R) gaa (E) gac (D) tct (S) tct (S) gtc (V) agt (S) ctc (L) aat (N) cgg (R) gaa (E) gac (D) tgt (C) cag (Q) tct (S) caa (Q) original frameshift length = 12 frameshift length = 12 frameshifted sequence: tgt (C) cag (Q) tct (S) caa (Q) tgg (W) caa (Q) tca (S) ttc (F) agt (S) cct (P) gtc (V) tag (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 12 497 S 508 * 12 biliary_tract TP53 1 c.723delC p.C242fs*5 length of cdnaseq = 1182 length of protseq = 393 723 723 C 1 241 3 241 3 c Total no. of codons in cdna seq = 394 tcc tcc start c-c post t end c-t tc- --- frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 246 Protein length after deletion = 245 Total no. of codons in del cdnaseq = 394 last codon in array is ga tgt (C) aac (N) agt (S) tcc (S) tcc (S) tgc (C) atg (M) ggc (G) ggc (G) tgt (C) aac (N) agt (S) tct (S) gca (A) tgg (W) gcg (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tct (S) gca (A) tgg (W) gcg (A) gca (A) tga (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcc (S) tct (S) first wt aa affected by frameshift deletion is : tgc (C) final frameshift length = 5 242 C 246 * 5 bone TP53 1 c.359_359delA p.K120fs*3 length of cdnaseq = 1182 length of protseq = 393 359 359 A 1 120 2 120 2 a Total no. of codons in cdna seq = 394 aag aag start a-a end a-g a-- --g frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 394 last codon in array is ga ggg (G) aca (T) gcc (A) aag (K) aag (K) tct (S) gtg (V) act (T) tgc (C) ggg (G) aca (T) gcc (A) agt (S) ctg (L) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: agt (S) ctg (L) tga (TER) wild type sequence in deletion region: aag (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 3 120 K 122 * 3 breast TP53 1 c.220_226delGCCCCTG p.A74fs*47 length of cdnaseq = 1182 length of protseq = 393 220 226 GCCCCTG 7 74 1 76 1 gcccctg Total no. of codons in cdna seq = 394 gcc gca prev g start g-g end g-c --- -ca frameshift deletion length of cdnaseq after deletion = 1175 ter codon is tga at posn 120 Protein length after deletion = 119 Total no. of codons in del cdnaseq = 392 last codon in array is ga ccc (P) cgc (R) gtg (V) gcc (A) gca (A) cca (P) gca (A) gct (A) cct (P) ccc (P) cgc (R) gtg (V) cac (H) cag (Q) cag (Q) ctc (L) original frameshift length = 47 frameshift length = 47 frameshifted sequence: cac (H) cag (Q) cag (Q) ctc (L) cta (L) cac (H) cgg (R) cgg (R) ccc (P) ctg (L) cac (H) cag (Q) ccc (P) cct (P) cct (P) ggc (G) ccc (P) tgt (C) cat (H) ctt (L) ctg (L) tcc (S) ctt (L) ccc (P) aga (R) aaa (K) cct (P) acc (T) agg (R) gca (A) gct (A) acg (T) gtt (V) tcc (S) gtc (V) tgg (W) gct (A) tct (S) tgc (C) att (I) ctg (L) gga (G) cag (Q) cca (P) agt (S) ctg (L) tga (TER) wild type sequence in deletion region: gcc (A) cct (P) gca (A) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 47 74 A 120 * 47 breast TP53 1 c.261_286delAGCCCCCTCCTGGCCCCTGTCATCTT p.A88fs*52 length of cdnaseq = 1182 length of protseq = 393 261 286 AGCCCCCTCCTGGCCCCTGTCATCTT 26 87 3 96 1 agccccctcctggcccctgtcatctt Total no. of codons in cdna seq = 394 cca tct start c-a end t-c cc- -ct frameshift deletion length of cdnaseq after deletion = 1156 ter codon is tga at posn 139 Protein length after deletion = 138 Total no. of codons in del cdnaseq = 386 last codon in array is a gcc (A) cct (P) gca (A) cca (P) tct (S) gtc (V) cct (P) tcc (S) cag (Q) gcc (A) cct (P) gca (A) ccc (P) tgt (C) ccc (P) ttc (F) original frameshift length = 53 frameshift length = 53 frameshifted sequence: ccc (P) tgt (C) ccc (P) ttc (F) cca (P) gaa (E) aac (N) cta (L) cca (P) ggg (G) cag (Q) cta (L) cgg (R) ttt (F) ccg (P) tct (S) ggg (G) ctt (L) ctt (L) gca (A) ttc (F) tgg (W) gac (D) agc (S) caa (Q) gtc (V) tgt (C) gac (D) ttg (L) cac (H) gta (V) ctc (L) ccc (P) tgc (C) cct (P) caa (Q) caa (Q) gat (D) gtt (V) ttg (L) cca (P) act (T) ggc (G) caa (Q) gac (D) ctg (L) ccc (P) tgt (C) gca (A) gct (A) gtg (V) ggt (G) tga (TER) wild type sequence in deletion region: cca (P) gcc (A) ccc (P) tcc (S) tgg (W) ccc (P) ctg (L) tca (S) tct (S) tct (S) wt frameshift deln region length = 10 matching aa in delstart region of wt and deletion mutant: cca (P) ccc (P) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 52 88 A 139 * 52 breast TP53 1 c.468_481del14 p.R156fs*20 length of cdnaseq = 1182 length of protseq = 393 468 481 14 14 156 3 161 1 cgtccgcgccatgg Total no. of codons in cdna seq = 394 cgc gcc start g-c end g-c cg- -cc frameshift deletion length of cdnaseq after deletion = 1168 ter codon is tga at posn 175 Protein length after deletion = 174 Total no. of codons in del cdnaseq = 390 last codon in array is a ccc (P) ggc (G) acc (T) cgc (R) gcc (A) atc (I) tac (Y) aag (K) cag (Q) ccc (P) ggc (G) acc (T) cgc (R) cat (H) cta (L) caa (Q) original frameshift length = 20 frameshift length = 20 frameshifted sequence: cgc (R) cat (H) cta (L) caa (Q) gca (A) gtc (V) aca (T) gca (A) cat (H) gac (D) gga (G) ggt (G) tgt (C) gag (E) gcg (A) ctg (L) ccc (P) cca (P) cca (P) tga (TER) wild type sequence in deletion region: cgc (R) gtc (V) cgc (R) gcc (A) atg (M) gcc (A) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: cgc (R) cgc (R) first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 19 156 R 175 * 20 V R 1 breast TP53 c.468_481del14 p.R156fs*20 breast TP53 1 c.723delC p.C242fs*5 length of cdnaseq = 1182 length of protseq = 393 723 723 C 1 241 3 241 3 c Total no. of codons in cdna seq = 394 tcc tcc start c-c post t end c-t tc- --- frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 246 Protein length after deletion = 245 Total no. of codons in del cdnaseq = 394 last codon in array is ga tgt (C) aac (N) agt (S) tcc (S) tcc (S) tgc (C) atg (M) ggc (G) ggc (G) tgt (C) aac (N) agt (S) tct (S) gca (A) tgg (W) gcg (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tct (S) gca (A) tgg (W) gcg (A) gca (A) tga (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcc (S) tct (S) first wt aa affected by frameshift deletion is : tgc (C) final frameshift length = 5 242 C 246 * 5 central_nervous_system TP53 1 c.1024delC p.R342fs*3 length of cdnaseq = 1182 length of protseq = 393 1024 1024 C 1 342 1 342 1 c Total no. of codons in cdna seq = 394 cga cga prev c start c-c end c-g --- -ga frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 344 Protein length after deletion = 343 Total no. of codons in del cdnaseq = 394 last codon in array is ga gag (E) atg (M) ttc (F) cga (R) cga (R) gag (E) ctg (L) aat (N) gag (E) gag (E) atg (M) ttc (F) gag (E) agc (S) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: gag (E) agc (S) tga (TER) wild type sequence in deletion region: cga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 3 342 R 344 * 3 central_nervous_system TP53 1 c.290_294delTCCCT p.S99fs*48 length of cdnaseq = 1182 length of protseq = 393 290 294 TCCCT 5 97 2 98 3 tccct Total no. of codons in cdna seq = 394 gtc cct start g-t post t end t-t g-- --- frameshift deletion length of cdnaseq after deletion = 1177 ter codon is tga at posn 146 Protein length after deletion = 145 Total no. of codons in del cdnaseq = 393 last codon in array is a tca (S) tct (S) tct (S) gtc (V) cct (P) tcc (S) cag (Q) aaa (K) acc (T) tca (S) tct (S) tct (S) gtc (V) cca (P) gaa (E) aac (N) original frameshift length = 50 frameshift length = 50 frameshifted sequence: gtc (V) cca (P) gaa (E) aac (N) cta (L) cca (P) ggg (G) cag (Q) cta (L) cgg (R) ttt (F) ccg (P) tct (S) ggg (G) ctt (L) ctt (L) gca (A) ttc (F) tgg (W) gac (D) agc (S) caa (Q) gtc (V) tgt (C) gac (D) ttg (L) cac (H) gta (V) ctc (L) ccc (P) tgc (C) cct (P) caa (Q) caa (Q) gat (D) gtt (V) ttg (L) cca (P) act (T) ggc (G) caa (Q) gac (D) ctg (L) ccc (P) tgt (C) gca (A) gct (A) gtg (V) ggt (G) tga (TER) wild type sequence in deletion region: gtc (V) cct (P) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gtc (V) gtc (V) matching aa in delstart region of wt and deletion mutant: cct (P) cca (P) first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 48 99 S 146 * 48 central_nervous_system TP53 1 c.417_418delGA p.K139fs*9 length of cdnaseq = 1182 length of protseq = 393 417 418 GA 2 139 3 140 1 ga Total no. of codons in cdna seq = 394 aag acc start a-g end a-c aa- -cc frameshift deletion length of cdnaseq after deletion = 1180 ter codon is tga at posn 147 Protein length after deletion = 146 Total no. of codons in del cdnaseq = 394 last codon in array is a caa (Q) ctg (L) gcc (A) aag (K) acc (T) tgc (C) cct (P) gtg (V) cag (Q) caa (Q) ctg (L) gcc (A) aac (N) ctg (L) ccc (P) tgt (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: aac (N) ctg (L) ccc (P) tgt (C) gca (A) gct (A) gtg (V) ggt (G) tga (TER) wild type sequence in deletion region: aag (K) acc (T) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 9 139 K 147 * 9 central_nervous_system TP53 1 c.599_600delAT p.N200fs*8 length of cdnaseq = 1182 length of protseq = 393 599 600 AT 2 200 2 200 3 at Total no. of codons in cdna seq = 394 aat aat start a-a post t end t-t a-- --- frameshift deletion length of cdnaseq after deletion = 1180 ter codon is tga at posn 207 Protein length after deletion = 206 Total no. of codons in del cdnaseq = 394 last codon in array is a gtg (V) gaa (E) gga (G) aat (N) aat (N) ttg (L) cgt (R) gtg (V) gag (E) gtg (V) gaa (E) gga (G) att (I) gcg (A) tgt (C) gga (G) original frameshift length = 8 frameshift length = 8 frameshifted sequence: att (I) gcg (A) tgt (C) gga (G) gta (V) ttt (F) gga (G) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 8 200 N 207 * 8 central_nervous_system TP53 1 c.935delC p.S313fs*33 length of cdnaseq = 1182 length of protseq = 393 935 935 C 1 312 2 312 2 c Total no. of codons in cdna seq = 394 acc acc start a-c end c-c a-- --c frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 344 Protein length after deletion = 343 Total no. of codons in del cdnaseq = 394 last codon in array is ga ccc (P) aac (N) aac (N) acc (T) acc (T) agc (S) tcc (S) tct (S) ccc (P) ccc (P) aac (N) aac (N) aca (T) gct (A) cct (P) ctc (L) original frameshift length = 33 frameshift length = 33 frameshifted sequence: aca (T) gct (A) cct (P) ctc (L) ccc (P) agc (S) caa (Q) aga (R) aga (R) aac (N) cac (H) tgg (W) atg (M) gag (E) aat (N) att (I) tca (S) ccc (P) ttc (F) aga (R) tcc (S) gtg (V) ggc (G) gtg (V) agc (S) gct (A) tcg (S) aga (R) tgt (C) tcc (S) gag (E) agc (S) tga (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acc (T) aca (T) first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 32 313 S 345 * 33 endometrium TP53 1 c.216delC p.V73fs*50 length of cdnaseq = 1182 length of protseq = 393 216 216 C 1 72 3 72 3 c Total no. of codons in cdna seq = 394 cgc cgc start g-c post g end c-g cg- --- frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 394 last codon in array is ga gct (A) gct (A) ccc (P) cgc (R) cgc (R) gtg (V) gcc (A) cct (P) gca (A) gct (A) gct (A) ccc (P) cgg (R) tgg (W) ccc (P) ctg (L) original frameshift length = 51 frameshift length = 51 frameshifted sequence: cgg (R) tgg (W) ccc (P) ctg (L) cac (H) cag (Q) cag (Q) ctc (L) cta (L) cac (H) cgg (R) cgg (R) ccc (P) ctg (L) cac (H) cag (Q) ccc (P) cct (P) cct (P) ggc (G) ccc (P) tgt (C) cat (H) ctt (L) ctg (L) tcc (S) ctt (L) ccc (P) aga (R) aaa (K) cct (P) acc (T) agg (R) gca (A) gct (A) acg (T) gtt (V) tcc (S) gtc (V) tgg (W) gct (A) tct (S) tgc (C) att (I) ctg (L) gga (G) cag (Q) cca (P) agt (S) ctg (L) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgc (R) cgg (R) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 50 73 V 122 * 50 endometrium TP53 1 c.267delC p.S90fs*33 length of cdnaseq = 1182 length of protseq = 393 267 267 C 1 89 3 89 3 c Total no. of codons in cdna seq = 394 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 394 last codon in array is ga gca (A) cca (P) gcc (A) ccc (P) ccc (P) tcc (S) tgg (W) ccc (P) ctg (L) gca (A) cca (P) gcc (A) cct (P) cct (P) ggc (G) ccc (P) original frameshift length = 34 frameshift length = 34 frameshifted sequence: cct (P) cct (P) ggc (G) ccc (P) tgt (C) cat (H) ctt (L) ctg (L) tcc (S) ctt (L) ccc (P) aga (R) aaa (K) cct (P) acc (T) agg (R) gca (A) gct (A) acg (T) gtt (V) tcc (S) gtc (V) tgg (W) gct (A) tct (S) tgc (C) att (I) ctg (L) gga (G) cag (Q) cca (P) agt (S) ctg (L) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 33 90 S 122 * 33 haematopoietic_and_lymphoid_tissue TP53 1 c.1083delG p.G361fs*8 length of cdnaseq = 1182 length of protseq = 393 1083 1083 G 1 361 3 361 3 g Total no. of codons in cdna seq = 394 ggg ggg start g-g post a end g-a gg- --- frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 369 Protein length after deletion = 368 Total no. of codons in del cdnaseq = 394 last codon in array is ga gag (E) cca (P) ggg (G) ggg (G) ggg (G) agc (S) agg (R) gct (A) cac (H) gag (E) cca (P) ggg (G) gga (G) gca (A) ggg (G) ctc (L) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gga (G) gca (A) ggg (G) ctc (L) act (T) cca (P) gcc (A) acc (T) tga (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 8 361 G 368 * 8 S G 1 haematopoietic_and_lymphoid_tissue TP53 c.1083delG p.G361fs*8 haematopoietic_and_lymphoid_tissue TP53 1 c.520_545del26 p.R174fs*3 length of cdnaseq = 1182 length of protseq = 393 520 545 26 26 174 1 182 2 aggcgctgcccccaccatgagcgctg Total no. of codons in cdna seq = 394 agg tgc prev g start g-a end g-c --- --c frameshift deletion length of cdnaseq after deletion = 1156 ter codon is tag at posn 176 Protein length after deletion = 175 Total no. of codons in del cdnaseq = 386 last codon in array is a gag (E) gtt (V) gtg (V) agg (R) tgc (C) tca (S) gat (D) agc (S) gat (D) gag (E) gtt (V) gtg (V) ctc (L) aga (R) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: ctc (L) aga (R) tag (TER) wild type sequence in deletion region: agg (R) cgc (R) tgc (C) ccc (P) cac (H) cat (H) gag (E) cgc (R) tgc (C) wt frameshift deln region length = 9 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 3 174 R 176 * 3 haematopoietic_and_lymphoid_tissue TP53 1 c.696_706del11 p.Y234fs*2 length of cdnaseq = 1182 length of protseq = 393 696 706 11 11 232 3 236 1 ccactacaact Total no. of codons in cdna seq = 394 atc tac start t-c end t-a at- -ac frameshift deletion length of cdnaseq after deletion = 1171 ter codon is taa at posn 235 Protein length after deletion = 234 Total no. of codons in del cdnaseq = 391 last codon in array is a tgt (C) acc (T) acc (T) atc (I) tac (Y) atg (M) tgt (C) aac (N) agt (S) tgt (C) acc (T) acc (T) ata (I) cat (H) gtg (V) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: ata (I) cat (H) gtg (V) taa (TER) wild type sequence in deletion region: atc (I) cac (H) tac (Y) aac (N) tac (Y) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: atc (I) ata (I) matching aa in delstart region of wt and deletion mutant: cac (H) cat (H) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 2 234 Y 235 * 2 haematopoietic_and_lymphoid_tissue TP53 1 c.723delC p.C242fs*5 length of cdnaseq = 1182 length of protseq = 393 723 723 C 1 241 3 241 3 c Total no. of codons in cdna seq = 394 tcc tcc start c-c post t end c-t tc- --- frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 246 Protein length after deletion = 245 Total no. of codons in del cdnaseq = 394 last codon in array is ga tgt (C) aac (N) agt (S) tcc (S) tcc (S) tgc (C) atg (M) ggc (G) ggc (G) tgt (C) aac (N) agt (S) tct (S) gca (A) tgg (W) gcg (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tct (S) gca (A) tgg (W) gcg (A) gca (A) tga (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcc (S) tct (S) first wt aa affected by frameshift deletion is : tgc (C) final frameshift length = 5 242 C 246 * 5 large_intestine TP53 1 c.215delG p.R72fs*51 length of cdnaseq = 1182 length of protseq = 393 215 215 G 1 72 2 72 2 g Total no. of codons in cdna seq = 394 cgc cgc start c-g end g-c c-- --c frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 394 last codon in array is ga gct (A) gct (A) ccc (P) cgc (R) cgc (R) gtg (V) gcc (A) cct (P) gca (A) gct (A) gct (A) ccc (P) ccg (P) tgg (W) ccc (P) ctg (L) original frameshift length = 51 frameshift length = 51 frameshifted sequence: ccg (P) tgg (W) ccc (P) ctg (L) cac (H) cag (Q) cag (Q) ctc (L) cta (L) cac (H) cgg (R) cgg (R) ccc (P) ctg (L) cac (H) cag (Q) ccc (P) cct (P) cct (P) ggc (G) ccc (P) tgt (C) cat (H) ctt (L) ctg (L) tcc (S) ctt (L) ccc (P) aga (R) aaa (K) cct (P) acc (T) agg (R) gca (A) gct (A) acg (T) gtt (V) tcc (S) gtc (V) tgg (W) gct (A) tct (S) tgc (C) att (I) ctg (L) gga (G) cag (Q) cca (P) agt (S) ctg (L) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 51 72 R 122 * 51 large_intestine TP53 1 c.365_366delTG p.V122fs*26 length of cdnaseq = 1182 length of protseq = 393 365 366 TG 2 122 2 122 3 tg Total no. of codons in cdna seq = 394 gtg gtg start g-t post a end g-a g-- --- frameshift deletion length of cdnaseq after deletion = 1180 ter codon is tga at posn 147 Protein length after deletion = 146 Total no. of codons in del cdnaseq = 394 last codon in array is a gcc (A) aag (K) tct (S) gtg (V) gtg (V) act (T) tgc (C) acg (T) tac (Y) gcc (A) aag (K) tct (S) gac (D) ttg (L) cac (H) gta (V) original frameshift length = 26 frameshift length = 26 frameshifted sequence: gac (D) ttg (L) cac (H) gta (V) ctc (L) ccc (P) tgc (C) cct (P) caa (Q) caa (Q) gat (D) gtt (V) ttg (L) cca (P) act (T) ggc (G) caa (Q) gac (D) ctg (L) ccc (P) tgt (C) gca (A) gct (A) gtg (V) ggt (G) tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 26 122 V 147 * 26 large_intestine TP53 1 c.712_725delTGTAACAGTTCCTG p.C238fs*21 length of cdnaseq = 1182 length of protseq = 393 712 725 TGTAACAGTTCCTG 14 238 1 242 2 tgtaacagttcctg Total no. of codons in cdna seq = 394 tgt tgc prev g start g-t end g-c --- --c frameshift deletion length of cdnaseq after deletion = 1168 ter codon is taa at posn 258 Protein length after deletion = 257 Total no. of codons in del cdnaseq = 390 last codon in array is a aac (N) tac (Y) atg (M) tgt (C) tgc (C) atg (M) ggc (G) ggc (G) atg (M) aac (N) tac (Y) atg (M) cat (H) ggg (G) cgg (R) cat (H) original frameshift length = 21 frameshift length = 21 frameshifted sequence: cat (H) ggg (G) cgg (R) cat (H) gaa (E) ccg (P) gag (E) gcc (A) cat (H) cct (P) cac (H) cat (H) cat (H) cac (H) act (T) gga (G) aga (R) ctc (L) cag (Q) tgg (W) taa (TER) wild type sequence in deletion region: tgt (C) aac (N) agt (S) tcc (S) tgc (C) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 21 238 C 258 * 21 large_intestine TP53 1 c.723delC p.C242fs*5 length of cdnaseq = 1182 length of protseq = 393 723 723 C 1 241 3 241 3 c Total no. of codons in cdna seq = 394 tcc tcc start c-c post t end c-t tc- --- frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 246 Protein length after deletion = 245 Total no. of codons in del cdnaseq = 394 last codon in array is ga tgt (C) aac (N) agt (S) tcc (S) tcc (S) tgc (C) atg (M) ggc (G) ggc (G) tgt (C) aac (N) agt (S) tct (S) gca (A) tgg (W) gcg (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tct (S) gca (A) tgg (W) gcg (A) gca (A) tga (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcc (S) tct (S) first wt aa affected by frameshift deletion is : tgc (C) final frameshift length = 5 242 C 246 * 5 lung TP53 1 c.102delC p.L35fs*9 length of cdnaseq = 1182 length of protseq = 393 102 102 C 1 34 3 34 3 c Total no. of codons in cdna seq = 394 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 43 Protein length after deletion = 42 Total no. of codons in del cdnaseq = 394 last codon in array is ga gtt (V) ctg (L) tcc (S) ccc (P) ccc (P) ttg (L) ccg (P) tcc (S) caa (Q) gtt (V) ctg (L) tcc (S) cct (P) tgc (C) cgt (R) ccc (P) original frameshift length = 10 frameshift length = 10 frameshifted sequence: cct (P) tgc (C) cgt (R) ccc (P) aag (K) caa (Q) tgg (W) atg (M) att (I) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : ttg (L) final frameshift length = 9 35 L 43 * 9 lung TP53 1 c.140delC p.P47fs*76 length of cdnaseq = 1182 length of protseq = 393 140 140 C 1 47 2 47 2 c Total no. of codons in cdna seq = 394 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 394 last codon in array is ga atg (M) ctg (L) tcc (S) ccg (P) ccg (P) gac (D) gat (D) att (I) gaa (E) atg (M) ctg (L) tcc (S) cgg (R) acg (T) ata (I) ttg (L) original frameshift length = 76 frameshift length = 76 frameshifted sequence: cgg (R) acg (T) ata (I) ttg (L) aac (N) aat (N) ggt (G) tca (S) ctg (L) aag (K) acc (T) cag (Q) gtc (V) cag (Q) atg (M) aag (K) ctc (L) cca (P) gaa (E) tgc (C) cag (Q) agg (R) ctg (L) ctc (L) ccc (P) gcg (A) tgg (W) ccc (P) ctg (L) cac (H) cag (Q) cag (Q) ctc (L) cta (L) cac (H) cgg (R) cgg (R) ccc (P) ctg (L) cac (H) cag (Q) ccc (P) cct (P) cct (P) ggc (G) ccc (P) tgt (C) cat (H) ctt (L) ctg (L) tcc (S) ctt (L) ccc (P) aga (R) aaa (K) cct (P) acc (T) agg (R) gca (A) gct (A) acg (T) gtt (V) tcc (S) gtc (V) tgg (W) gct (A) tct (S) tgc (C) att (I) ctg (L) gga (G) cag (Q) cca (P) agt (S) ctg (L) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 76 47 P 122 * 76 lung TP53 1 c.402_403delTT p.F134fs*14 length of cdnaseq = 1182 length of protseq = 393 402 403 TT 2 134 3 135 1 tt Total no. of codons in cdna seq = 394 ttt tgc start t-t end t-g tt- -gc frameshift deletion length of cdnaseq after deletion = 1180 ter codon is tga at posn 147 Protein length after deletion = 146 Total no. of codons in del cdnaseq = 394 last codon in array is a aac (N) aag (K) atg (M) ttt (F) tgc (C) caa (Q) ctg (L) gcc (A) aag (K) aac (N) aag (K) atg (M) ttg (L) cca (P) act (T) ggc (G) original frameshift length = 14 frameshift length = 14 frameshifted sequence: ttg (L) cca (P) act (T) ggc (G) caa (Q) gac (D) ctg (L) ccc (P) tgt (C) gca (A) gct (A) gtg (V) ggt (G) tga (TER) wild type sequence in deletion region: ttt (F) tgc (C) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 14 134 F 147 * 14 lung TP53 1 c.468_480del13 p.V157fs*9 length of cdnaseq = 1182 length of protseq = 393 468 480 13 13 156 3 160 3 cgtccgcgccatg Total no. of codons in cdna seq = 394 cgc atg start g-c post g end g-g cg- --- frameshift deletion length of cdnaseq after deletion = 1169 ter codon is tga at posn 165 Protein length after deletion = 164 Total no. of codons in del cdnaseq = 390 last codon in array is ga ccc (P) ggc (G) acc (T) cgc (R) atg (M) gcc (A) atc (I) tac (Y) aag (K) ccc (P) ggc (G) acc (T) cgg (R) cca (P) tct (S) aca (T) original frameshift length = 10 frameshift length = 10 frameshifted sequence: cgg (R) cca (P) tct (S) aca (T) agc (S) agt (S) cac (H) agc (S) aca (T) tga (TER) wild type sequence in deletion region: cgc (R) gtc (V) cgc (R) gcc (A) atg (M) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: cgc (R) cgg (R) first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 9 157 V 165 * 9 lung TP53 1 c.572_572delC p.P191fs*56 length of cdnaseq = 1182 length of protseq = 393 572 572 C 1 191 2 191 2 c Total no. of codons in cdna seq = 394 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 246 Protein length after deletion = 245 Total no. of codons in del cdnaseq = 394 last codon in array is ga ctg (L) gcc (A) cct (P) cct (P) cct (P) cag (Q) cat (H) ctt (L) atc (I) ctg (L) gcc (A) cct (P) ctc (L) agc (S) atc (I) tta (L) original frameshift length = 56 frameshift length = 56 frameshifted sequence: ctc (L) agc (S) atc (I) tta (L) tcc (S) gag (E) tgg (W) aag (K) gaa (E) att (I) tgc (C) gtg (V) tgg (W) agt (S) att (I) tgg (W) atg (M) aca (T) gaa (E) aca (T) ctt (L) ttc (F) gac (D) ata (I) gtg (V) tgg (W) tgg (W) tgc (C) cct (P) atg (M) agc (S) cgc (R) ctg (L) agg (R) ttg (L) gct (A) ctg (L) act (T) gta (V) cca (P) cca (P) tcc (S) act (T) aca (T) act (T) aca (T) tgt (C) gta (V) aca (T) gtt (V) cct (P) gca (A) tgg (W) gcg (A) gca (A) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 56 191 P 246 * 56 lung TP53 1 c.880delG p.E294fs*51 length of cdnaseq = 1182 length of protseq = 393 880 880 G 1 294 1 294 1 g Total no. of codons in cdna seq = 394 gag gag prev g start g-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 344 Protein length after deletion = 343 Total no. of codons in del cdnaseq = 394 last codon in array is ga aag (K) aaa (K) ggg (G) gag (E) gag (E) cct (P) cac (H) cac (H) gag (E) aag (K) aaa (K) ggg (G) agc (S) ctc (L) acc (T) acg (T) original frameshift length = 51 frameshift length = 51 frameshifted sequence: agc (S) ctc (L) acc (T) acg (T) agc (S) tgc (C) ccc (P) cag (Q) gga (G) gca (A) cta (L) agc (S) gag (E) cac (H) tgc (C) cca (P) aca (T) aca (T) cca (P) gct (A) cct (P) ctc (L) ccc (P) agc (S) caa (Q) aga (R) aga (R) aac (N) cac (H) tgg (W) atg (M) gag (E) aat (N) att (I) tca (S) ccc (P) ttc (F) aga (R) tcc (S) gtg (V) ggc (G) gtg (V) agc (S) gct (A) tcg (S) aga (R) tgt (C) tcc (S) gag (E) agc (S) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 51 294 E 344 * 51 lung TP53 1 c.953_971del19 p.P318fs*21 length of cdnaseq = 1182 length of protseq = 393 953 971 19 19 318 2 324 2 caaagaagaaaccactgga Total no. of codons in cdna seq = 394 cca gat start c-c end a-t c-- --t frameshift deletion length of cdnaseq after deletion = 1163 ter codon is tga at posn 338 Protein length after deletion = 337 Total no. of codons in del cdnaseq = 388 last codon in array is ga tct (S) ccc (P) cag (Q) cca (P) gat (D) gga (G) gaa (E) tat (Y) ttc (F) tct (S) ccc (P) cag (Q) ctg (L) gag (E) aat (N) att (I) original frameshift length = 21 frameshift length = 21 frameshifted sequence: ctg (L) gag (E) aat (N) att (I) tca (S) ccc (P) ttc (F) aga (R) tcc (S) gtg (V) ggc (G) gtg (V) agc (S) gct (A) tcg (S) aga (R) tgt (C) tcc (S) gag (E) agc (S) tga (TER) wild type sequence in deletion region: cca (P) aag (K) aag (K) aaa (K) cca (P) ctg (L) gat (D) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 21 318 P 338 * 21 oesophagus TP53 1 c.801delG p.R267fs*78 length of cdnaseq = 1182 length of protseq = 393 801 801 G 1 267 3 267 3 g Total no. of codons in cdna seq = 394 cgg cgg start g-g post a end g-a cg- --- frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 344 Protein length after deletion = 343 Total no. of codons in del cdnaseq = 394 last codon in array is ga cta (L) ctg (L) gga (G) cgg (R) cgg (R) aac (N) agc (S) ttt (F) gag (E) cta (L) ctg (L) gga (G) cga (R) aca (T) gct (A) ttg (L) original frameshift length = 78 frameshift length = 78 frameshifted sequence: cga (R) aca (T) gct (A) ttg (L) agg (R) tgc (C) gtg (V) ttt (F) gtg (V) cct (P) gtc (V) ctg (L) gga (G) gag (E) acc (T) ggc (G) gca (A) cag (Q) agg (R) aag (K) aga (R) atc (I) tcc (S) gca (A) aga (R) aag (K) ggg (G) agc (S) ctc (L) acc (T) acg (T) agc (S) tgc (C) ccc (P) cag (Q) gga (G) gca (A) cta (L) agc (S) gag (E) cac (H) tgc (C) cca (P) aca (T) aca (T) cca (P) gct (A) cct (P) ctc (L) ccc (P) agc (S) caa (Q) aga (R) aga (R) aac (N) cac (H) tgg (W) atg (M) gag (E) aat (N) att (I) tca (S) ccc (P) ttc (F) aga (R) tcc (S) gtg (V) ggc (G) gtg (V) agc (S) gct (A) tcg (S) aga (R) tgt (C) tcc (S) gag (E) agc (S) tga (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgg (R) cga (R) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 77 267 R 344 * 78 N R 1 oesophagus TP53 c.801delG p.R267fs*78 ovary TP53 1 c.267delC p.S90fs*33 length of cdnaseq = 1182 length of protseq = 393 267 267 C 1 89 3 89 3 c Total no. of codons in cdna seq = 394 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 122 Protein length after deletion = 121 Total no. of codons in del cdnaseq = 394 last codon in array is ga gca (A) cca (P) gcc (A) ccc (P) ccc (P) tcc (S) tgg (W) ccc (P) ctg (L) gca (A) cca (P) gcc (A) cct (P) cct (P) ggc (G) ccc (P) original frameshift length = 34 frameshift length = 34 frameshifted sequence: cct (P) cct (P) ggc (G) ccc (P) tgt (C) cat (H) ctt (L) ctg (L) tcc (S) ctt (L) ccc (P) aga (R) aaa (K) cct (P) acc (T) agg (R) gca (A) gct (A) acg (T) gtt (V) tcc (S) gtc (V) tgg (W) gct (A) tct (S) tgc (C) att (I) ctg (L) gga (G) cag (Q) cca (P) agt (S) ctg (L) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 33 90 S 122 * 33 pancreas TP53 1 c.403delT p.C135fs*35 length of cdnaseq = 1182 length of protseq = 393 403 403 T 1 135 1 135 1 t Total no. of codons in cdna seq = 394 tgc tgc prev t start t-t end t-g --- -gc frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 394 last codon in array is ga aag (K) atg (M) ttt (F) tgc (C) tgc (C) caa (Q) ctg (L) gcc (A) aag (K) aag (K) atg (M) ttt (F) gcc (A) aac (N) tgg (W) cca (P) original frameshift length = 35 frameshift length = 35 frameshifted sequence: gcc (A) aac (N) tgg (W) cca (P) aga (R) cct (P) gcc (A) ctg (L) tgc (C) agc (S) tgt (C) ggg (G) ttg (L) att (I) cca (P) cac (H) ccc (P) cgc (R) ccg (P) gca (A) ccc (P) gcg (A) tcc (S) gcg (A) cca (P) tgg (W) cca (P) tct (S) aca (T) agc (S) agt (S) cac (H) agc (S) aca (T) tga (TER) wild type sequence in deletion region: tgc (C) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgc (C) final frameshift length = 35 135 C 169 * 35 pancreas TP53 1 c.626_627delGA p.R209fs*6 length of cdnaseq = 1182 length of protseq = 393 626 627 GA 2 209 2 209 3 ga Total no. of codons in cdna seq = 394 aga aga start a-g post a end a-a a-- --- frameshift deletion length of cdnaseq after deletion = 1180 ter codon is tag at posn 214 Protein length after deletion = 213 Total no. of codons in del cdnaseq = 394 last codon in array is a ttg (L) gat (D) gac (D) aga (R) aga (R) aac (N) act (T) ttt (F) cga (R) ttg (L) gat (D) gac (D) aaa (K) cac (H) ttt (F) tcg (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: aaa (K) cac (H) ttt (F) tcg (S) aca (T) tag (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 6 209 R 214 * 6 prostate TP53 1 c.414delC p.K139fs*31 length of cdnaseq = 1182 length of protseq = 393 414 414 C 1 138 3 138 3 c Total no. of codons in cdna seq = 394 gcc gcc start c-c post a end c-a gc- --- frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 394 last codon in array is ga tgc (C) caa (Q) ctg (L) gcc (A) gcc (A) aag (K) acc (T) tgc (C) cct (P) tgc (C) caa (Q) ctg (L) gca (A) aga (R) cct (P) gcc (A) original frameshift length = 32 frameshift length = 32 frameshifted sequence: gca (A) aga (R) cct (P) gcc (A) ctg (L) tgc (C) agc (S) tgt (C) ggg (G) ttg (L) att (I) cca (P) cac (H) ccc (P) cgc (R) ccg (P) gca (A) ccc (P) gcg (A) tcc (S) gcg (A) cca (P) tgg (W) cca (P) tct (S) aca (T) agc (S) agt (S) cac (H) agc (S) aca (T) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 31 139 K 169 * 31 salivary_gland TP53 1 c.539delA p.E180fs*67 length of cdnaseq = 1182 length of protseq = 393 539 539 A 1 180 2 180 2 a Total no. of codons in cdna seq = 394 gag gag start g-a end a-g g-- --g frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 246 Protein length after deletion = 245 Total no. of codons in del cdnaseq = 394 last codon in array is ga ccc (P) cac (H) cat (H) gag (E) gag (E) cgc (R) tgc (C) tca (S) gat (D) ccc (P) cac (H) cat (H) ggc (G) gct (A) gct (A) cag (Q) original frameshift length = 67 frameshift length = 67 frameshifted sequence: ggc (G) gct (A) gct (A) cag (Q) ata (I) gcg (A) atg (M) gtc (V) tgg (W) ccc (P) ctc (L) ctc (L) agc (S) atc (I) tta (L) tcc (S) gag (E) tgg (W) aag (K) gaa (E) att (I) tgc (C) gtg (V) tgg (W) agt (S) att (I) tgg (W) atg (M) aca (T) gaa (E) aca (T) ctt (L) ttc (F) gac (D) ata (I) gtg (V) tgg (W) tgg (W) tgc (C) cct (P) atg (M) agc (S) cgc (R) ctg (L) agg (R) ttg (L) gct (A) ctg (L) act (T) gta (V) cca (P) cca (P) tcc (S) act (T) aca (T) act (T) aca (T) tgt (C) gta (V) aca (T) gtt (V) cct (P) gca (A) tgg (W) gcg (A) gca (A) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 67 180 E 246 * 67 skin TP53 1 c.849_850delCA p.T284fs*21 length of cdnaseq = 1182 length of protseq = 393 849 850 CA 2 283 3 284 1 ca Total no. of codons in cdna seq = 394 cgc aca start g-c end a-c cg- -ca frameshift deletion length of cdnaseq after deletion = 1180 ter codon is taa at posn 304 Protein length after deletion = 303 Total no. of codons in del cdnaseq = 394 last codon in array is a aga (R) gac (D) cgg (R) cgc (R) aca (T) gag (E) gaa (E) gag (E) aat (N) aga (R) gac (D) cgg (R) cgc (R) aga (R) gga (G) aga (R) original frameshift length = 22 frameshift length = 22 frameshifted sequence: cgc (R) aga (R) gga (G) aga (R) gaa (E) tct (S) ccg (P) caa (Q) gaa (E) agg (R) gga (G) gcc (A) tca (S) cca (P) cga (R) gct (A) gcc (A) ccc (P) agg (R) gag (E) cac (H) taa (TER) wild type sequence in deletion region: cgc (R) aca (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cgc (R) cgc (R) first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 21 284 T 304 * 21 stomach TP53 1 c.1146delA p.K382fs*40 length of cdnaseq = 1182 length of protseq = 393 1146 1146 A 1 382 3 382 3 a Total no. of codons in cdna seq = 394 aaa aaa start a-a post c end a-c aa- --- frameshift deletion length of cdnaseq after deletion = 1181 Total no. of codons in del cdnaseq = 394 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 393 cgc (R) cat (H) aaa (K) aaa (K) aaa (K) ctc (L) atg (M) ttc (F) aag (K) cgc (R) cat (H) aaa (K) aac (N) tca (S) tgt (C) tca (S) original frameshift length = 13 frameshift length = 12 frameshifted sequence: aac (N) tca (S) tgt (C) tca (S) aga (R) cag (Q) aag (K) ggc (G) ctg (L) act (T) cag (Q) act (T) ga (end) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 12 382 K 421 * 40 testis TP53 1 c.814delG p.V272fs*73 length of cdnaseq = 1182 length of protseq = 393 814 814 G 1 272 1 272 1 g Total no. of codons in cdna seq = 394 gtg gtg prev g start g-g end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 1181 ter codon is tga at posn 344 Protein length after deletion = 343 Total no. of codons in del cdnaseq = 394 last codon in array is ga agc (S) ttt (F) gag (E) gtg (V) gtg (V) cgt (R) gtt (V) tgt (C) gcc (A) agc (S) ttt (F) gag (E) tgc (C) gtg (V) ttt (F) gtg (V) original frameshift length = 73 frameshift length = 73 frameshifted sequence: tgc (C) gtg (V) ttt (F) gtg (V) cct (P) gtc (V) ctg (L) gga (G) gag (E) acc (T) ggc (G) gca (A) cag (Q) agg (R) aag (K) aga (R) atc (I) tcc (S) gca (A) aga (R) aag (K) ggg (G) agc (S) ctc (L) acc (T) acg (T) agc (S) tgc (C) ccc (P) cag (Q) gga (G) gca (A) cta (L) agc (S) gag (E) cac (H) tgc (C) cca (P) aca (T) aca (T) cca (P) gct (A) cct (P) ctc (L) ccc (P) agc (S) caa (Q) aga (R) aga (R) aac (N) cac (H) tgg (W) atg (M) gag (E) aat (N) att (I) tca (S) ccc (P) ttc (F) aga (R) tcc (S) gtg (V) ggc (G) gtg (V) agc (S) gct (A) tcg (S) aga (R) tgt (C) tcc (S) gag (E) agc (S) tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 73 272 V 344 * 73 upper_aerodigestive_tract TP53 1 c.625_626delAG p.R209fs*6 length of cdnaseq = 1182 length of protseq = 393 625 626 AG 2 209 1 209 2 ag Total no. of codons in cdna seq = 394 aga aga prev c start c-a end g-a --- --a frameshift deletion length of cdnaseq after deletion = 1180 ter codon is tag at posn 214 Protein length after deletion = 213 Total no. of codons in del cdnaseq = 394 last codon in array is a ttg (L) gat (D) gac (D) aga (R) aga (R) aac (N) act (T) ttt (F) cga (R) ttg (L) gat (D) gac (D) aaa (K) cac (H) ttt (F) tcg (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: aaa (K) cac (H) ttt (F) tcg (S) aca (T) tag (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 6 209 R 214 * 6 upper_aerodigestive_tract TP53 1 c.822_853del32 p.C275fs*20 length of cdnaseq = 1182 length of protseq = 393 822 853 32 32 274 3 285 1 ttgtgcctgtcctgggagagaccggcgcacag Total no. of codons in cdna seq = 394 gtt gag start t-t end g-a gt- -ag frameshift deletion length of cdnaseq after deletion = 1150 ter codon is taa at posn 294 Protein length after deletion = 293 Total no. of codons in del cdnaseq = 384 last codon in array is a gag (E) gtg (V) cgt (R) gtt (V) gag (E) gaa (E) gag (E) aat (N) ctc (L) gag (E) gtg (V) cgt (R) gta (V) gga (G) aga (R) gaa (E) original frameshift length = 21 frameshift length = 21 frameshifted sequence: gta (V) gga (G) aga (R) gaa (E) tct (S) ccg (P) caa (Q) gaa (E) agg (R) gga (G) gcc (A) tca (S) cca (P) cga (R) gct (A) gcc (A) ccc (P) agg (R) gag (E) cac (H) taa (TER) wild type sequence in deletion region: gtt (V) tgt (C) gcc (A) tgt (C) cct (P) ggg (G) aga (R) gac (D) cgg (R) cgc (R) aca (T) gag (E) wt frameshift deln region length = 12 matching aa in delstart region of wt and deletion mutant: gtt (V) gta (V) first wt aa affected by frameshift deletion is : tgt (C) final frameshift length = 20 275 C 294 * 20 kidney TRIP11 1 c.2911delA p.T971fs*34 length of cdnaseq = 5940 length of protseq = 1979 2911 2911 A 1 971 1 971 1 a Total no. of codons in cdna seq = 1980 aca aca prev a start a-a end a-c --- -ca frameshift deletion length of cdnaseq after deletion = 5939 ter codon is tag at posn 1004 Protein length after deletion = 1003 Total no. of codons in del cdnaseq = 1980 last codon in array is ag ttg (L) caa (Q) aaa (K) aca (T) aca (T) att (I) gaa (E) caa (Q) atc (I) ttg (L) caa (Q) aaa (K) caa (Q) ttg (L) aac (N) aaa (K) original frameshift length = 34 frameshift length = 34 frameshifted sequence: caa (Q) ttg (L) aac (N) aaa (K) tca (S) aaa (K) ccc (P) agt (S) tgc (C) atg (M) aag (K) aaa (K) gac (D) agg (R) aca (T) ttc (F) aaa (K) cag (Q) ata (I) act (T) ctg (L) ata (I) ttt (F) ttc (F) aag (K) aaa (K) caa (Q) aag (K) ttc (F) aga (R) gcc (A) tta (L) ata (I) tag (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 34 971 T 1004 * 34 urinary_tract TSC1 1 c.1669delC p.L557fs*72 length of cdnaseq = 3495 length of protseq = 1164 1669 1669 C 1 557 1 557 1 c Total no. of codons in cdna seq = 1165 ctg ctg prev c start c-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 3494 ter codon is taa at posn 628 Protein length after deletion = 627 Total no. of codons in del cdnaseq = 1165 last codon in array is aa ccc (P) ata (I) gac (D) ctg (L) ctg (L) ccc (P) tgc (C) ggc (G) agt (S) ccc (P) ata (I) gac (D) tgc (C) cct (P) gcg (A) gca (A) original frameshift length = 72 frameshift length = 72 frameshifted sequence: tgc (C) cct (P) gcg (A) gca (A) gtg (V) ctg (L) atg (M) aaa (K) gcc (A) ctg (L) cgg (R) gag (E) aca (T) ggg (G) aat (N) gcc (A) aga (R) ctt (L) ctt (L) tgg (W) aga (R) cca (P) gta (V) tct (S) tca (S) ctc (L) cca (P) gtc (V) ctt (L) gta (V) aaa (K) ttc (F) cac (H) ctc (L) cga (R) cga (R) gag (E) tgg (W) gct (A) ttg (L) gaa (E) gcg (A) ggc (G) agc (S) ctc (L) ccc (P) cgt (R) atg (M) atc (I) atc (I) ttt (F) ttg (L) agg (R) tgg (W) cat (H) tgc (C) caa (Q) aga (R) cag (Q) ccc (P) atc (I) att (I) ttg (L) tca (S) tca (S) gga (G) aga (R) ctg (L) agg (R) agc (S) tgt (C) taa (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 72 557 L 628 * 72 adrenal_gland VHL 1 c.163delG p.E55fs*12 length of cdnaseq = 642 length of protseq = 213 163 163 G 1 55 1 55 1 g Total no. of codons in cdna seq = 214 gag gag prev g start g-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga gag (E) gag (E) atg (M) gag (E) gag (E) gcc (A) ggg (G) cgg (R) ccg (P) gag (E) gag (E) atg (M) agg (R) ccg (P) ggc (G) ggc (G) original frameshift length = 12 frameshift length = 12 frameshifted sequence: agg (R) ccg (P) ggc (G) ggc (G) cgc (R) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 12 55 E 66 * 12 adrenal_gland VHL 1 c.443_444delTT p.F148fs*25 length of cdnaseq = 642 length of protseq = 213 443 444 TT 2 148 2 148 3 tt Total no. of codons in cdna seq = 214 ttt ttt start t-t post g end t-g t-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 214 last codon in array is a cag (Q) cct (P) att (I) ttt (F) ttt (F) gcc (A) aat (N) atc (I) aca (T) cag (Q) cct (P) att (I) tgc (C) caa (Q) tat (Y) cac (H) original frameshift length = 25 frameshift length = 25 frameshifted sequence: tgc (C) caa (Q) tat (Y) cac (H) act (T) gcc (A) agt (S) gta (V) tac (Y) tct (S) gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 25 148 F 172 * 25 kidney VHL 1 c.153_165del13 p.E52fs*11 length of cdnaseq = 642 length of protseq = 213 153 165 13 13 51 3 55 3 ggaggagatggag Total no. of codons in cdna seq = 214 gag gag start a-g post g end g-g ga- --- frameshift deletion length of cdnaseq after deletion = 629 ter codon is tga at posn 62 Protein length after deletion = 61 Total no. of codons in del cdnaseq = 210 last codon in array is ga ctg (L) ggc (G) gcc (A) gag (E) gag (E) gcc (A) ggg (G) cgg (R) ccg (P) ctg (L) ggc (G) gcc (A) gag (E) ccg (P) ggc (G) ggc (G) original frameshift length = 12 frameshift length = 12 frameshifted sequence: gag (E) ccg (P) ggc (G) ggc (G) cgc (R) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: gag (E) gag (E) gag (E) atg (M) gag (E) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 11 52 E 62 * 11 kidney VHL 1 c.160_175del16 p.M54fs*8 length of cdnaseq = 642 length of protseq = 213 160 175 16 16 54 1 59 1 atggaggccgggcggc Total no. of codons in cdna seq = 214 atg ccg prev g start g-a end c-c --- -cg frameshift deletion length of cdnaseq after deletion = 626 ter codon is tga at posn 61 Protein length after deletion = 60 Total no. of codons in del cdnaseq = 209 last codon in array is ga gag (E) gag (E) gag (E) atg (M) ccg (P) cgg (R) ccc (P) gtg (V) ctg (L) gag (E) gag (E) gag (E) cgc (R) ggc (G) ccg (P) tgc (C) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cgc (R) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: atg (M) gag (E) gcc (A) ggg (G) cgg (R) ccg (P) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 8 54 M 61 * 8 kidney VHL 1 c.162_162delG p.E55fs*12 length of cdnaseq = 642 length of protseq = 213 162 162 G 1 54 3 54 3 g Total no. of codons in cdna seq = 214 atg atg start t-g post g end g-g at- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga gag (E) gag (E) gag (E) atg (M) atg (M) gag (E) gcc (A) ggg (G) cgg (R) gag (E) gag (E) gag (E) atg (M) agg (R) ccg (P) ggc (G) original frameshift length = 13 frameshift length = 13 frameshifted sequence: atg (M) agg (R) ccg (P) ggc (G) ggc (G) cgc (R) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: atg (M) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: atg (M) atg (M) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 12 55 E 66 * 12 kidney VHL 1 c.162_166delGGAGG p.M54fs*76 length of cdnaseq = 642 length of protseq = 213 162 166 GGAGG 5 54 3 56 1 ggagg Total no. of codons in cdna seq = 214 atg gcc start t-g end g-c at- -cc frameshift deletion length of cdnaseq after deletion = 637 ter codon is taa at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 213 last codon in array is a gag (E) gag (E) gag (E) atg (M) gcc (A) ggg (G) cgg (R) ccg (P) cgg (R) gag (E) gag (E) gag (E) atc (I) cgg (R) gcg (A) gcc (A) original frameshift length = 76 frameshift length = 76 frameshifted sequence: atc (I) cgg (R) gcg (A) gcc (A) gcg (A) gcc (A) cgt (R) gct (A) gcg (A) ctc (L) ggt (G) gaa (E) ctc (L) gcg (A) cga (R) gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: atg (M) gag (E) gcc (A) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 76 54 M 129 * 76 kidney VHL 1 c.165_169delGGCCG p.G57fs*73 length of cdnaseq = 642 length of protseq = 213 165 169 GGCCG 5 55 3 57 1 ggccg Total no. of codons in cdna seq = 214 gag ggg start a-g end g-g ga- -gg frameshift deletion length of cdnaseq after deletion = 637 ter codon is taa at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 213 last codon in array is a gag (E) gag (E) atg (M) gag (E) ggg (G) cgg (R) ccg (P) cgg (R) ccc (P) gag (E) gag (E) atg (M) gag (E) gcg (A) gcc (A) gcg (A) original frameshift length = 75 frameshift length = 75 frameshifted sequence: gag (E) gcg (A) gcc (A) gcg (A) gcc (A) cgt (R) gct (A) gcg (A) ctc (L) ggt (G) gaa (E) ctc (L) gcg (A) cga (R) gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: gag (E) gcc (A) ggg (G) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) matching aa in delstart region of wt and deletion mutant: gcc (A) gcg (A) first wt aa affected by frameshift deletion is : ggg (G) final frameshift length = 73 57 G 129 * 73 kidney VHL 1 c.165_172delGGCCGGGC p.G57fs*72 length of cdnaseq = 642 length of protseq = 213 165 172 GGCCGGGC 8 55 3 58 1 ggccgggc Total no. of codons in cdna seq = 214 gag cgg start a-g end c-g ga- -gg frameshift deletion length of cdnaseq after deletion = 634 ter codon is taa at posn 128 Protein length after deletion = 127 Total no. of codons in del cdnaseq = 212 last codon in array is a gag (E) gag (E) atg (M) gag (E) cgg (R) ccg (P) cgg (R) ccc (P) gtg (V) gag (E) gag (E) atg (M) gag (E) gcc (A) gcg (A) gcc (A) original frameshift length = 74 frameshift length = 74 frameshifted sequence: gag (E) gcc (A) gcg (A) gcc (A) cgt (R) gct (A) gcg (A) ctc (L) ggt (G) gaa (E) ctc (L) gcg (A) cga (R) gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: gag (E) gcc (A) ggg (G) cgg (R) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) matching aa in delstart region of wt and deletion mutant: gcc (A) gcc (A) first wt aa affected by frameshift deletion is : ggg (G) final frameshift length = 72 57 G 128 * 72 kidney VHL 1 c.166_178del13 p.A56fs*7 length of cdnaseq = 642 length of protseq = 213 166 178 13 13 56 1 60 1 gccgggcggccgc Total no. of codons in cdna seq = 214 gcc cgg prev g start g-g end c-g --- -gg frameshift deletion length of cdnaseq after deletion = 629 ter codon is tga at posn 62 Protein length after deletion = 61 Total no. of codons in del cdnaseq = 210 last codon in array is ga gag (E) atg (M) gag (E) gcc (A) cgg (R) ccc (P) gtg (V) ctg (L) cgc (R) gag (E) atg (M) gag (E) ggc (G) ccg (P) tgc (C) tgc (C) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: gcc (A) ggg (G) cgg (R) ccg (P) cgg (R) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 7 56 A 62 * 7 kidney VHL 1 c.168delC p.R58fs*9 length of cdnaseq = 642 length of protseq = 213 168 168 C 1 56 3 56 3 c Total no. of codons in cdna seq = 214 gcc gcc start c-c post g end c-g gc- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga gag (E) atg (M) gag (E) gcc (A) gcc (A) ggg (G) cgg (R) ccg (P) cgg (R) gag (E) atg (M) gag (E) gcg (A) ggc (G) ggc (G) cgc (R) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gcg (A) ggc (G) ggc (G) cgc (R) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gcg (A) matching aa in delstart region of wt and deletion mutant: ggg (G) ggc (G) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 9 58 R 66 * 9 kidney VHL 1 c.170_176delGGCGGCC p.R58fs*7 length of cdnaseq = 642 length of protseq = 213 170 176 GGCGGCC 7 57 2 59 2 ggcggcc Total no. of codons in cdna seq = 214 ggg ccg start g-g end c-g g-- --g frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 64 Protein length after deletion = 63 Total no. of codons in del cdnaseq = 212 last codon in array is ga atg (M) gag (E) gcc (A) ggg (G) ccg (P) cgg (R) ccc (P) gtg (V) ctg (L) atg (M) gag (E) gcc (A) ggc (G) ggc (G) ccg (P) tgc (C) original frameshift length = 8 frameshift length = 8 frameshifted sequence: ggc (G) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: ggg (G) cgg (R) ccg (P) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ggg (G) ggc (G) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 7 58 R 64 * 7 kidney VHL 1 c.173_182del10 p.R58fs*6 length of cdnaseq = 642 length of protseq = 213 173 182 10 10 58 2 61 2 ggccgcggcc Total no. of codons in cdna seq = 214 cgg ccc start c-g end c-c c-- --c frameshift deletion length of cdnaseq after deletion = 632 ter codon is tga at posn 63 Protein length after deletion = 62 Total no. of codons in del cdnaseq = 211 last codon in array is ga gag (E) gcc (A) ggg (G) cgg (R) ccc (P) gtg (V) ctg (L) cgc (R) tcg (S) gag (E) gcc (A) ggg (G) ccg (P) tgc (C) tgc (C) gct (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: cgg (R) ccg (P) cgg (R) ccc (P) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 6 58 R 63 * 6 kidney VHL 1 c.174delG p.P59fs*8 length of cdnaseq = 642 length of protseq = 213 174 174 G 1 58 3 58 3 g Total no. of codons in cdna seq = 214 cgg cgg start g-g post c end g-c cg- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga gag (E) gcc (A) ggg (G) cgg (R) cgg (R) ccg (P) cgg (R) ccc (P) gtg (V) gag (E) gcc (A) ggg (G) cgc (R) cgc (R) ggc (G) ccg (P) original frameshift length = 9 frameshift length = 9 frameshifted sequence: cgc (R) cgc (R) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgg (R) cgc (R) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 8 59 P 66 * 8 kidney VHL 1 c.176_177delCG p.R60fs*71 length of cdnaseq = 642 length of protseq = 213 176 177 CG 2 59 2 59 3 cg Total no. of codons in cdna seq = 214 ccg ccg start c-c post c end g-c c-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a gcc (A) ggg (G) cgg (R) ccg (P) ccg (P) cgg (R) ccc (P) gtg (V) ctg (L) gcc (A) ggg (G) cgg (R) ccg (P) gcc (A) cgt (R) gct (A) original frameshift length = 72 frameshift length = 72 frameshifted sequence: ccg (P) gcc (A) cgt (R) gct (A) gcg (A) ctc (L) ggt (G) gaa (E) ctc (L) gcg (A) cga (R) gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccg (P) ccg (P) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 71 60 R 130 * 71 kidney VHL 1 c.178_287del110 p.R60fs*35 length of cdnaseq = 642 length of protseq = 213 178 287 110 110 60 1 96 2 cggcccgtgctgcgctcggtgaactcgcgcgagccctcccaggtcatcttctgcaatcgcagtccgcgcgtcgtgctgcccgtatggctcaacttcgacggcgagccgca Total no. of codons in cdna seq = 214 cgg cag prev g start g-c end a-g --- --g frameshift deletion length of cdnaseq after deletion = 532 ter codon is taa at posn 94 Protein length after deletion = 93 Total no. of codons in del cdnaseq = 178 last codon in array is a ggg (G) cgg (R) ccg (P) cgg (R) cag (Q) ccc (P) tac (Y) cca (P) acg (T) ggg (G) cgg (R) ccg (P) gcc (A) cta (L) ccc (P) aac (N) original frameshift length = 35 frameshift length = 35 frameshifted sequence: gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cgg (R) ccc (P) gtg (V) ctg (L) cgc (R) tcg (S) gtg (V) aac (N) tcg (S) cgc (R) gag (E) ccc (P) tcc (S) cag (Q) gtc (V) atc (I) ttc (F) tgc (C) aat (N) cgc (R) agt (S) ccg (P) cgc (R) gtc (V) gtg (V) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) aac (N) ttc (F) gac (D) ggc (G) gag (E) ccg (P) cag (Q) wt frameshift deln region length = 37 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 35 60 R 94 * 35 kidney VHL 1 c.179_179delG p.V62fs*5 length of cdnaseq = 642 length of protseq = 213 179 179 G 1 60 2 60 2 g Total no. of codons in cdna seq = 214 cgg cgg start c-g end g-g c-- --g frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga ggg (G) cgg (R) ccg (P) cgg (R) cgg (R) ccc (P) gtg (V) ctg (L) cgc (R) ggg (G) cgg (R) ccg (P) cgc (R) ccg (P) tgc (C) tgc (C) original frameshift length = 7 frameshift length = 7 frameshifted sequence: cgc (R) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgg (R) cgc (R) matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 5 62 V 66 * 5 kidney VHL 1 c.180_184delGCCCG p.R60fs*70 length of cdnaseq = 642 length of protseq = 213 180 184 GCCCG 5 60 3 62 1 gcccg Total no. of codons in cdna seq = 214 cgg gtg start g-g end g-t cg- -tg frameshift deletion length of cdnaseq after deletion = 637 ter codon is taa at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 213 last codon in array is a ggg (G) cgg (R) ccg (P) cgg (R) gtg (V) ctg (L) cgc (R) tcg (S) gtg (V) ggg (G) cgg (R) ccg (P) cgt (R) gct (A) gcg (A) ctc (L) original frameshift length = 70 frameshift length = 70 frameshifted sequence: cgt (R) gct (A) gcg (A) ctc (L) ggt (G) gaa (E) ctc (L) gcg (A) cga (R) gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cgg (R) ccc (P) gtg (V) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: cgg (R) cgt (R) first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 69 60 R 129 * 70 P R 1 kidney VHL c.180_184delGCCCG p.R60fs*70 kidney VHL 1 c.180_208del29 p.P61fs*61 length of cdnaseq = 642 length of protseq = 213 180 208 29 29 60 3 70 1 gcccgtgctgcgctcggtgaactcgcgcg Total no. of codons in cdna seq = 214 cgg gag start g-g end g-a cg- -ag frameshift deletion length of cdnaseq after deletion = 613 ter codon is taa at posn 121 Protein length after deletion = 120 Total no. of codons in del cdnaseq = 205 last codon in array is a ggg (G) cgg (R) ccg (P) cgg (R) gag (E) ccc (P) tcc (S) cag (Q) gtc (V) ggg (G) cgg (R) ccg (P) cga (R) gcc (A) ctc (L) cca (P) original frameshift length = 62 frameshift length = 62 frameshifted sequence: cga (R) gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cgg (R) ccc (P) gtg (V) ctg (L) cgc (R) tcg (S) gtg (V) aac (N) tcg (S) cgc (R) gag (E) wt frameshift deln region length = 11 matching aa in delstart region of wt and deletion mutant: cgg (R) cga (R) first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 61 61 P 121 * 61 kidney VHL 1 c.181_181delC p.V62fs*5 length of cdnaseq = 642 length of protseq = 213 181 181 C 1 61 1 61 1 c Total no. of codons in cdna seq = 214 ccc ccc prev g start g-c end c-c --- -cc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga cgg (R) ccg (P) cgg (R) ccc (P) ccc (P) gtg (V) ctg (L) cgc (R) tcg (S) cgg (R) ccg (P) cgg (R) ccg (P) tgc (C) tgc (C) gct (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 5 62 V 66 * 5 kidney VHL 1 c.183_195del13 p.V62fs*1 length of cdnaseq = 642 length of protseq = 213 183 195 13 13 61 3 65 3 cgtgctgcgctcg Total no. of codons in cdna seq = 214 ccc tcg start c-c post g end g-g cc- --- frameshift deletion length of cdnaseq after deletion = 629 ter codon is tga at posn 62 Protein length after deletion = 61 Total no. of codons in del cdnaseq = 210 last codon in array is ga cgg (R) ccg (P) cgg (R) ccc (P) tcg (S) gtg (V) aac (N) tcg (S) cgc (R) cgg (R) ccg (P) cgg (R) ccg (P) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ccg (P) tga (TER) wild type sequence in deletion region: ccc (P) gtg (V) ctg (L) cgc (R) tcg (S) wt frameshift deln region length = 5 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 1 62 V 62 * 1 kidney VHL 1 c.184_184delG p.V62fs*5 length of cdnaseq = 642 length of protseq = 213 184 184 G 1 62 1 62 1 g Total no. of codons in cdna seq = 214 gtg gtg prev c start c-g end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga ccg (P) cgg (R) ccc (P) gtg (V) gtg (V) ctg (L) cgc (R) tcg (S) gtg (V) ccg (P) cgg (R) ccc (P) tgc (C) tgc (C) gct (A) cgg (R) original frameshift length = 5 frameshift length = 5 frameshifted sequence: tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 5 62 V 66 * 5 kidney VHL 1 c.186_199del14 p.R64fs*63 length of cdnaseq = 642 length of protseq = 213 186 199 14 14 62 3 67 1 gctgcgctcggtga Total no. of codons in cdna seq = 214 gtg aac start t-g end a-a gt- -ac frameshift deletion length of cdnaseq after deletion = 628 ter codon is taa at posn 126 Protein length after deletion = 125 Total no. of codons in del cdnaseq = 210 last codon in array is a ccg (P) cgg (R) ccc (P) gtg (V) aac (N) tcg (S) cgc (R) gag (E) ccc (P) ccg (P) cgg (R) ccc (P) gta (V) ctc (L) gcg (A) cga (R) original frameshift length = 65 frameshift length = 65 frameshifted sequence: gta (V) ctc (L) gcg (A) cga (R) gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: gtg (V) ctg (L) cgc (R) tcg (S) gtg (V) aac (N) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: gtg (V) gta (V) matching aa in delstart region of wt and deletion mutant: ctg (L) ctc (L) first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 63 64 R 126 * 63 kidney VHL 1 c.187delC p.L63fs*4 length of cdnaseq = 642 length of protseq = 213 187 187 C 1 63 1 63 1 c Total no. of codons in cdna seq = 214 ctg ctg prev g start g-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga cgg (R) ccc (P) gtg (V) ctg (L) ctg (L) cgc (R) tcg (S) gtg (V) aac (N) cgg (R) ccc (P) gtg (V) tgc (C) gct (A) cgg (R) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 4 63 L 66 * 4 kidney VHL 1 c.192_198delCTCGGTG p.S65fs*92 length of cdnaseq = 642 length of protseq = 213 192 198 CTCGGTG 7 64 3 66 3 ctcggtg Total no. of codons in cdna seq = 214 cgc gtg start g-c post a end g-a cg- --- frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga ccc (P) gtg (V) ctg (L) cgc (R) gtg (V) aac (N) tcg (S) cgc (R) gag (E) ccc (P) gtg (V) ctg (L) cga (R) act (T) cgc (R) gcg (A) original frameshift length = 93 frameshift length = 93 frameshifted sequence: cga (R) act (T) cgc (R) gcg (A) agc (S) cct (P) ccc (P) agg (R) tca (S) tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) tcg (S) gtg (V) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: cgc (R) cga (R) first wt aa affected by frameshift deletion is : tcg (S) final frameshift length = 92 65 S 156 * 92 kidney VHL 1 c.197_197delT p.V66fs*93 length of cdnaseq = 642 length of protseq = 213 197 197 T 1 66 2 66 2 t Total no. of codons in cdna seq = 214 gtg gtg start g-t end t-g g-- --g frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ctg (L) cgc (R) tcg (S) gtg (V) gtg (V) aac (N) tcg (S) cgc (R) gag (E) ctg (L) cgc (R) tcg (S) gga (G) act (T) cgc (R) gcg (A) original frameshift length = 93 frameshift length = 93 frameshifted sequence: gga (G) act (T) cgc (R) gcg (A) agc (S) cct (P) ccc (P) agg (R) tca (S) tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 93 66 V 158 * 93 kidney VHL 1 c.197_213del17 p.N67fs*59 length of cdnaseq = 642 length of protseq = 213 197 213 17 17 66 2 71 3 tgaactcgcgcgagccc Total no. of codons in cdna seq = 214 gtg ccc start g-t post t end c-t g-- --- frameshift deletion length of cdnaseq after deletion = 625 ter codon is taa at posn 125 Protein length after deletion = 124 Total no. of codons in del cdnaseq = 209 last codon in array is a ctg (L) cgc (R) tcg (S) gtg (V) ccc (P) tcc (S) cag (Q) gtc (V) atc (I) ctg (L) cgc (R) tcg (S) gtc (V) cca (P) ggt (G) cat (H) original frameshift length = 60 frameshift length = 60 frameshifted sequence: gtc (V) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: gtg (V) aac (N) tcg (S) cgc (R) gag (E) ccc (P) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: gtg (V) gtc (V) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 59 67 N 125 * 59 kidney VHL 1 c.204_204delG p.R69fs*90 length of cdnaseq = 642 length of protseq = 213 204 204 G 1 68 3 68 3 g Total no. of codons in cdna seq = 214 tcg tcg start c-g post c end g-c tc- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga tcg (S) gtg (V) aac (N) tcg (S) tcg (S) cgc (R) gag (E) ccc (P) tcc (S) tcg (S) gtg (V) aac (N) tcc (S) gcg (A) agc (S) cct (P) original frameshift length = 91 frameshift length = 91 frameshifted sequence: tcc (S) gcg (A) agc (S) cct (P) ccc (P) agg (R) tca (S) tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: tcg (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcg (S) tcc (S) first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 90 69 R 158 * 90 kidney VHL 1 c.205_206delCG p.E70fs*61 length of cdnaseq = 642 length of protseq = 213 205 206 CG 2 69 1 69 2 cg Total no. of codons in cdna seq = 214 cgc cgc prev g start g-c end g-c --- --c frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a gtg (V) aac (N) tcg (S) cgc (R) cgc (R) gag (E) ccc (P) tcc (S) cag (Q) gtg (V) aac (N) tcg (S) cga (R) gcc (A) ctc (L) cca (P) original frameshift length = 62 frameshift length = 62 frameshifted sequence: cga (R) gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgc (R) cga (R) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 61 70 E 130 * 61 kidney VHL 1 c.205_208delCGCG p.R69fs*89 length of cdnaseq = 642 length of protseq = 213 205 208 CGCG 4 69 1 70 1 cgcg Total no. of codons in cdna seq = 214 cgc gag prev g start g-c end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga gtg (V) aac (N) tcg (S) cgc (R) gag (E) ccc (P) tcc (S) cag (Q) gtc (V) gtg (V) aac (N) tcg (S) agc (S) cct (P) ccc (P) agg (R) original frameshift length = 89 frameshift length = 89 frameshifted sequence: agc (S) cct (P) ccc (P) agg (R) tca (S) tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) gag (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 89 69 R 157 * 89 kidney VHL 1 c.205delC p.R69fs*90 length of cdnaseq = 642 length of protseq = 213 205 205 C 1 69 1 69 1 c Total no. of codons in cdna seq = 214 cgc cgc prev g start g-c end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gtg (V) aac (N) tcg (S) cgc (R) cgc (R) gag (E) ccc (P) tcc (S) cag (Q) gtg (V) aac (N) tcg (S) gcg (A) agc (S) cct (P) ccc (P) original frameshift length = 90 frameshift length = 90 frameshifted sequence: gcg (A) agc (S) cct (P) ccc (P) agg (R) tca (S) tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 90 69 R 158 * 90 kidney VHL 1 c.208_220del13 p.E70fs*85 length of cdnaseq = 642 length of protseq = 213 208 220 13 13 70 1 74 1 gagccctcccagg Total no. of codons in cdna seq = 214 gag gtc prev c start c-g end g-t --- -tc frameshift deletion length of cdnaseq after deletion = 629 ter codon is tga at posn 154 Protein length after deletion = 153 Total no. of codons in del cdnaseq = 210 last codon in array is ga aac (N) tcg (S) cgc (R) gag (E) gtc (V) atc (I) ttc (F) tgc (C) aat (N) aac (N) tcg (S) cgc (R) tca (S) tct (S) tct (S) gca (A) original frameshift length = 85 frameshift length = 85 frameshifted sequence: tca (S) tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gag (E) ccc (P) tcc (S) cag (Q) gtc (V) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 85 70 E 154 * 85 kidney VHL 1 c.209_210delAG p.E70fs*61 length of cdnaseq = 642 length of protseq = 213 209 210 AG 2 70 2 70 3 ag Total no. of codons in cdna seq = 214 gag gag start g-a post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a aac (N) tcg (S) cgc (R) gag (E) gag (E) ccc (P) tcc (S) cag (Q) gtc (V) aac (N) tcg (S) cgc (R) gcc (A) ctc (L) cca (P) ggt (G) original frameshift length = 61 frameshift length = 61 frameshifted sequence: gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 61 70 E 130 * 61 kidney VHL 1 c.211_223del13 p.P71fs*84 length of cdnaseq = 642 length of protseq = 213 211 223 13 13 71 1 75 1 ccctcccaggtca Total no. of codons in cdna seq = 214 ccc atc prev g start g-c end a-t --- -tc frameshift deletion length of cdnaseq after deletion = 629 ter codon is tga at posn 154 Protein length after deletion = 153 Total no. of codons in del cdnaseq = 210 last codon in array is ga tcg (S) cgc (R) gag (E) ccc (P) atc (I) ttc (F) tgc (C) aat (N) cgc (R) tcg (S) cgc (R) gag (E) tct (S) tct (S) gca (A) atc (I) original frameshift length = 84 frameshift length = 84 frameshifted sequence: tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ccc (P) tcc (S) cag (Q) gtc (V) atc (I) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 84 71 P 154 * 84 kidney VHL 1 c.215_215delC p.Q73fs*86 length of cdnaseq = 642 length of protseq = 213 215 215 C 1 72 2 72 2 c Total no. of codons in cdna seq = 214 tcc tcc start t-c end c-c t-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cgc (R) gag (E) ccc (P) tcc (S) tcc (S) cag (Q) gtc (V) atc (I) ttc (F) cgc (R) gag (E) ccc (P) tcc (S) agg (R) tca (S) tct (S) original frameshift length = 87 frameshift length = 87 frameshifted sequence: tcc (S) agg (R) tca (S) tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: tcc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tcc (S) tcc (S) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 86 73 Q 158 * 86 kidney VHL 1 c.219_219delG p.V74fs*85 length of cdnaseq = 642 length of protseq = 213 219 219 G 1 73 3 73 3 g Total no. of codons in cdna seq = 214 cag cag start a-g post g end g-g ca- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gag (E) ccc (P) tcc (S) cag (Q) cag (Q) gtc (V) atc (I) ttc (F) tgc (C) gag (E) ccc (P) tcc (S) cag (Q) tca (S) tct (S) tct (S) original frameshift length = 86 frameshift length = 86 frameshifted sequence: cag (Q) tca (S) tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cag (Q) cag (Q) first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 85 74 V 158 * 85 kidney VHL 1 c.220_229del10 p.V74fs*82 length of cdnaseq = 642 length of protseq = 213 220 229 10 10 74 1 77 1 gtcatcttct Total no. of codons in cdna seq = 214 gtc tgc prev g start g-g end t-g --- -gc frameshift deletion length of cdnaseq after deletion = 632 ter codon is tga at posn 155 Protein length after deletion = 154 Total no. of codons in del cdnaseq = 211 last codon in array is ga ccc (P) tcc (S) cag (Q) gtc (V) tgc (C) aat (N) cgc (R) agt (S) ccg (P) ccc (P) tcc (S) cag (Q) gca (A) atc (I) gca (A) gtc (V) original frameshift length = 82 frameshift length = 82 frameshifted sequence: gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtc (V) atc (I) ttc (F) tgc (C) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 82 74 V 155 * 82 kidney VHL 1 c.220delG p.V74fs*85 length of cdnaseq = 642 length of protseq = 213 220 220 G 1 74 1 74 1 g Total no. of codons in cdna seq = 214 gtc gtc prev g start g-g end g-t --- -tc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ccc (P) tcc (S) cag (Q) gtc (V) gtc (V) atc (I) ttc (F) tgc (C) aat (N) ccc (P) tcc (S) cag (Q) tca (S) tct (S) tct (S) gca (A) original frameshift length = 85 frameshift length = 85 frameshifted sequence: tca (S) tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtc (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 85 74 V 158 * 85 kidney VHL 1 c.221_245del25 p.V74fs*77 length of cdnaseq = 642 length of protseq = 213 221 245 25 25 74 2 82 2 tcatcttctgcaatcgcagtccgcg Total no. of codons in cdna seq = 214 gtc cgc start g-t end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 617 ter codon is tga at posn 150 Protein length after deletion = 149 Total no. of codons in del cdnaseq = 206 last codon in array is ga ccc (P) tcc (S) cag (Q) gtc (V) cgc (R) gtc (V) gtg (V) ctg (L) ccc (P) ccc (P) tcc (S) cag (Q) gcg (A) tcg (S) tgc (C) tgc (C) original frameshift length = 77 frameshift length = 77 frameshifted sequence: gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtc (V) atc (I) ttc (F) tgc (C) aat (N) cgc (R) agt (S) ccg (P) cgc (R) wt frameshift deln region length = 9 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 77 74 V 150 * 77 kidney VHL 1 c.227delT p.F76fs*83 length of cdnaseq = 642 length of protseq = 213 227 227 T 1 76 2 76 2 t Total no. of codons in cdna seq = 214 ttc ttc start t-t end t-c t-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cag (Q) gtc (V) atc (I) ttc (F) ttc (F) tgc (C) aat (N) cgc (R) agt (S) cag (Q) gtc (V) atc (I) tct (S) gca (A) atc (I) gca (A) original frameshift length = 83 frameshift length = 83 frameshifted sequence: tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 83 76 F 158 * 83 kidney VHL 1 c.230_234delGCAAT p.C77fs*53 length of cdnaseq = 642 length of protseq = 213 230 234 GCAAT 5 77 2 78 3 gcaat Total no. of codons in cdna seq = 214 tgc aat start t-g post c end t-c t-- --- frameshift deletion length of cdnaseq after deletion = 637 ter codon is taa at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 213 last codon in array is a gtc (V) atc (I) ttc (F) tgc (C) aat (N) cgc (R) agt (S) ccg (P) cgc (R) gtc (V) atc (I) ttc (F) tcg (S) cag (Q) tcc (S) gcg (A) original frameshift length = 53 frameshift length = 53 frameshifted sequence: tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: tgc (C) aat (N) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tgc (C) final frameshift length = 53 77 C 129 * 53 kidney VHL 1 c.233_233delA p.N78fs*81 length of cdnaseq = 642 length of protseq = 213 233 233 A 1 78 2 78 2 a Total no. of codons in cdna seq = 214 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga atc (I) ttc (F) tgc (C) aat (N) aat (N) cgc (R) agt (S) ccg (P) cgc (R) atc (I) ttc (F) tgc (C) atc (I) gca (A) gtc (V) cgc (R) original frameshift length = 81 frameshift length = 81 frameshifted sequence: atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 81 78 N 158 * 81 kidney VHL 1 c.234_234delT p.R79fs*80 length of cdnaseq = 642 length of protseq = 213 234 234 T 1 78 3 78 3 t Total no. of codons in cdna seq = 214 aat aat start a-t post c end t-c aa- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga atc (I) ttc (F) tgc (C) aat (N) aat (N) cgc (R) agt (S) ccg (P) cgc (R) atc (I) ttc (F) tgc (C) aac (N) gca (A) gtc (V) cgc (R) original frameshift length = 81 frameshift length = 81 frameshifted sequence: aac (N) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aat (N) aac (N) first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 80 79 R 158 * 80 kidney VHL 1 c.234_237delTCGC p.N78fs*80 length of cdnaseq = 642 length of protseq = 213 234 237 TCGC 4 78 3 79 3 tcgc Total no. of codons in cdna seq = 214 aat cgc start a-t post a end c-a aa- --- frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga atc (I) ttc (F) tgc (C) aat (N) cgc (R) agt (S) ccg (P) cgc (R) gtc (V) atc (I) ttc (F) tgc (C) aaa (K) gtc (V) cgc (R) gcg (A) original frameshift length = 80 frameshift length = 80 frameshifted sequence: aaa (K) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aat (N) cgc (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 80 78 N 157 * 80 kidney VHL 1 c.235delC p.R79fs*80 length of cdnaseq = 642 length of protseq = 213 235 235 C 1 79 1 79 1 c Total no. of codons in cdna seq = 214 cgc cgc prev t start t-c end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ttc (F) tgc (C) aat (N) cgc (R) cgc (R) agt (S) ccg (P) cgc (R) gtc (V) ttc (F) tgc (C) aat (N) gca (A) gtc (V) cgc (R) gcg (A) original frameshift length = 80 frameshift length = 80 frameshifted sequence: gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 80 79 R 158 * 80 kidney VHL 1 c.236_237delGC p.R79fs*52 length of cdnaseq = 642 length of protseq = 213 236 237 GC 2 79 2 79 3 gc Total no. of codons in cdna seq = 214 cgc cgc start c-g post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a ttc (F) tgc (C) aat (N) cgc (R) cgc (R) agt (S) ccg (P) cgc (R) gtc (V) ttc (F) tgc (C) aat (N) cag (Q) tcc (S) gcg (A) cgt (R) original frameshift length = 52 frameshift length = 52 frameshifted sequence: cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 52 79 R 130 * 52 kidney VHL 1 c.236_254del19 p.S80fs*73 length of cdnaseq = 642 length of protseq = 213 236 254 19 19 79 2 85 2 gcagtccgcgcgtcgtgct Total no. of codons in cdna seq = 214 cgc ctg start c-g end t-g c-- --g frameshift deletion length of cdnaseq after deletion = 623 ter codon is tga at posn 152 Protein length after deletion = 151 Total no. of codons in del cdnaseq = 208 last codon in array is ga ttc (F) tgc (C) aat (N) cgc (R) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) ttc (F) tgc (C) aat (N) cgc (R) ccg (P) tat (Y) ggc (G) original frameshift length = 74 frameshift length = 74 frameshifted sequence: cgc (R) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) agt (S) ccg (P) cgc (R) gtc (V) gtg (V) ctg (L) wt frameshift deln region length = 7 matching aa in delstart region of wt and deletion mutant: cgc (R) cgc (R) first wt aa affected by frameshift deletion is : agt (S) final frameshift length = 73 80 S 152 * 73 kidney VHL 1 c.243_247delGCGCG p.P81fs*49 length of cdnaseq = 642 length of protseq = 213 243 247 GCGCG 5 81 3 83 1 gcgcg Total no. of codons in cdna seq = 214 ccg gtc start c-g end g-t cc- -tc frameshift deletion length of cdnaseq after deletion = 637 ter codon is taa at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 213 last codon in array is a aat (N) cgc (R) agt (S) ccg (P) gtc (V) gtg (V) ctg (L) ccc (P) gta (V) aat (N) cgc (R) agt (S) cct (P) cgt (R) gct (A) gcc (A) original frameshift length = 49 frameshift length = 49 frameshifted sequence: cct (P) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ccg (P) cgc (R) gtc (V) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ccg (P) cct (P) matching aa in delstart region of wt and deletion mutant: cgc (R) cgt (R) first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 47 81 P 129 * 49 V P 1 kidney VHL c.243_247delGCGCG p.P81fs*49 kidney VHL 1 c.244delC p.R82fs*77 length of cdnaseq = 642 length of protseq = 213 244 244 C 1 82 1 82 1 c Total no. of codons in cdna seq = 214 cgc cgc prev g start g-c end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cgc (R) agt (S) ccg (P) cgc (R) cgc (R) gtc (V) gtg (V) ctg (L) ccc (P) cgc (R) agt (S) ccg (P) gcg (A) tcg (S) tgc (C) tgc (C) original frameshift length = 77 frameshift length = 77 frameshifted sequence: gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 77 82 R 158 * 77 kidney VHL 1 c.249_250delCG p.V84fs*47 length of cdnaseq = 642 length of protseq = 213 249 250 CG 2 83 3 84 1 cg Total no. of codons in cdna seq = 214 gtc gtg start t-c end g-t gt- -tg frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a agt (S) ccg (P) cgc (R) gtc (V) gtg (V) ctg (L) ccc (P) gta (V) tgg (W) agt (S) ccg (P) cgc (R) gtt (V) gct (A) gcc (A) cgt (R) original frameshift length = 48 frameshift length = 48 frameshifted sequence: gtt (V) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: gtc (V) gtg (V) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gtc (V) gtt (V) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 47 84 V 130 * 47 kidney VHL 1 c.249_255delCGTGCTG p.V84fs*73 length of cdnaseq = 642 length of protseq = 213 249 255 CGTGCTG 7 83 3 85 3 cgtgctg Total no. of codons in cdna seq = 214 gtc ctg start t-c post c end g-c gt- --- frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga agt (S) ccg (P) cgc (R) gtc (V) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) agt (S) ccg (P) cgc (R) gtc (V) ccg (P) tat (Y) ggc (G) original frameshift length = 74 frameshift length = 74 frameshifted sequence: gtc (V) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtc (V) gtg (V) ctg (L) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: gtc (V) gtc (V) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 73 84 V 156 * 73 kidney VHL 1 c.250_253delGTGC p.V84fs*74 length of cdnaseq = 642 length of protseq = 213 250 253 GTGC 4 84 1 85 1 gtgc Total no. of codons in cdna seq = 214 gtg ctg prev c start c-g end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga ccg (P) cgc (R) gtc (V) gtg (V) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) ccg (P) cgc (R) gtc (V) tgc (C) ccg (P) tat (Y) ggc (G) original frameshift length = 74 frameshift length = 74 frameshifted sequence: tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtg (V) ctg (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 74 84 V 157 * 74 kidney VHL 1 c.253_253delC p.L85fs*74 length of cdnaseq = 642 length of protseq = 213 253 253 C 1 85 1 85 1 c Total no. of codons in cdna seq = 214 ctg ctg prev g start g-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cgc (R) gtc (V) gtg (V) ctg (L) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) cgc (R) gtc (V) gtg (V) tgc (C) ccg (P) tat (Y) ggc (G) original frameshift length = 74 frameshift length = 74 frameshifted sequence: tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 74 85 L 158 * 74 kidney VHL 1 c.255_256delGC p.L85fs*46 length of cdnaseq = 642 length of protseq = 213 255 256 GC 2 85 3 86 1 gc Total no. of codons in cdna seq = 214 ctg ccc start t-g end c-c ct- -cc frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a cgc (R) gtc (V) gtg (V) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) aac (N) cgc (R) gtc (V) gtg (V) ctc (L) cgt (R) atg (M) gct (A) original frameshift length = 46 frameshift length = 46 frameshifted sequence: ctc (L) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ctg (L) ccc (P) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctg (L) ctc (L) first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 45 85 L 130 * 46 P L 1 kidney VHL c.255_256delGC p.L85fs*46 kidney VHL 1 c.255_258delGCCC p.P86fs*72 length of cdnaseq = 642 length of protseq = 213 255 258 GCCC 4 85 3 86 3 gccc Total no. of codons in cdna seq = 214 ctg ccc start t-g post g end c-g ct- --- frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga cgc (R) gtc (V) gtg (V) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) aac (N) cgc (R) gtc (V) gtg (V) ctg (L) tat (Y) ggc (G) tca (S) original frameshift length = 73 frameshift length = 73 frameshifted sequence: ctg (L) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ctg (L) ccc (P) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctg (L) ctg (L) first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 72 86 P 157 * 72 kidney VHL 1 c.256_259delCCCG p.P86fs*72 length of cdnaseq = 642 length of protseq = 213 256 259 CCCG 4 86 1 87 1 cccg Total no. of codons in cdna seq = 214 ccc gta prev g start g-c end g-t --- -ta frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga gtc (V) gtg (V) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) aac (N) ttc (F) gtc (V) gtg (V) ctg (L) tat (Y) ggc (G) tca (S) act (T) original frameshift length = 72 frameshift length = 72 frameshifted sequence: tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ccc (P) gta (V) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 72 86 P 157 * 72 kidney VHL 1 c.258_259delCG p.V87fs*44 length of cdnaseq = 642 length of protseq = 213 258 259 CG 2 86 3 87 1 cg Total no. of codons in cdna seq = 214 ccc gta start c-c end g-t cc- -ta frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a gtc (V) gtg (V) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) aac (N) ttc (F) gtc (V) gtg (V) ctg (L) cct (P) atg (M) gct (A) caa (Q) original frameshift length = 45 frameshift length = 45 frameshifted sequence: cct (P) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ccc (P) gta (V) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 44 87 V 130 * 44 kidney VHL 1 c.258delC p.V87fs*72 length of cdnaseq = 642 length of protseq = 213 258 258 C 1 86 3 86 3 c Total no. of codons in cdna seq = 214 ccc ccc start c-c post g end c-g cc- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gtc (V) gtg (V) ctg (L) ccc (P) ccc (P) gta (V) tgg (W) ctc (L) aac (N) gtc (V) gtg (V) ctg (L) ccg (P) tat (Y) ggc (G) tca (S) original frameshift length = 73 frameshift length = 73 frameshifted sequence: ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 72 87 V 158 * 72 kidney VHL 1 c.260delT p.V87fs*72 length of cdnaseq = 642 length of protseq = 213 260 260 T 1 87 2 87 2 t Total no. of codons in cdna seq = 214 gta gta start g-t end t-a g-- --a frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gtg (V) ctg (L) ccc (P) gta (V) gta (V) tgg (W) ctc (L) aac (N) ttc (F) gtg (V) ctg (L) ccc (P) gat (D) ggc (G) tca (S) act (T) original frameshift length = 72 frameshift length = 72 frameshifted sequence: gat (D) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gta (V) final frameshift length = 72 87 V 158 * 72 kidney VHL 1 c.261_262delAT p.W88fs*43 length of cdnaseq = 642 length of protseq = 213 261 262 AT 2 87 3 88 1 at Total no. of codons in cdna seq = 214 gta tgg start t-a end t-g gt- -gg frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a gtg (V) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) aac (N) ttc (F) gac (D) gtg (V) ctg (L) ccc (P) gtg (V) gct (A) caa (Q) ctt (L) original frameshift length = 44 frameshift length = 44 frameshifted sequence: gtg (V) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: gta (V) tgg (W) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gta (V) gtg (V) first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 43 88 W 130 * 43 kidney VHL 1 c.263_263delG p.W88fs*71 length of cdnaseq = 642 length of protseq = 213 263 263 G 1 88 2 88 2 g Total no. of codons in cdna seq = 214 tgg tgg start t-g end g-g t-- --g frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ctg (L) ccc (P) gta (V) tgg (W) tgg (W) ctc (L) aac (N) ttc (F) gac (D) ctg (L) ccc (P) gta (V) tgc (C) tca (S) act (T) tcg (S) original frameshift length = 71 frameshift length = 71 frameshifted sequence: tgc (C) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: tgg (W) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 71 88 W 158 * 71 kidney VHL 1 c.268_274delAACTTCG p.N90fs*67 length of cdnaseq = 642 length of protseq = 213 268 274 AACTTCG 7 90 1 92 1 aacttcg Total no. of codons in cdna seq = 214 aac gac prev c start c-a end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga gta (V) tgg (W) ctc (L) aac (N) gac (D) ggc (G) gag (E) ccg (P) cag (Q) gta (V) tgg (W) ctc (L) acg (T) gcg (A) agc (S) cgc (R) original frameshift length = 67 frameshift length = 67 frameshifted sequence: acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aac (N) ttc (F) gac (D) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 67 90 N 156 * 67 kidney VHL 1 c.270_280del11 p.N90fs*38 length of cdnaseq = 642 length of protseq = 213 270 280 11 11 90 3 94 1 cttcgacggcg Total no. of codons in cdna seq = 214 aac gag start a-c end g-a aa- -ag frameshift deletion length of cdnaseq after deletion = 631 ter codon is taa at posn 127 Protein length after deletion = 126 Total no. of codons in del cdnaseq = 211 last codon in array is a gta (V) tgg (W) ctc (L) aac (N) gag (E) ccg (P) cag (Q) ccc (P) tac (Y) gta (V) tgg (W) ctc (L) aaa (K) gcc (A) gca (A) gcc (A) original frameshift length = 38 frameshift length = 38 frameshifted sequence: aaa (K) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: aac (N) ttc (F) gac (D) ggc (G) gag (E) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 38 90 N 127 * 38 kidney VHL 1 c.271_271delT p.F91fs*68 length of cdnaseq = 642 length of protseq = 213 271 271 T 1 91 1 91 1 t Total no. of codons in cdna seq = 214 ttc ttc prev c start c-t end t-t --- -tc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga tgg (W) ctc (L) aac (N) ttc (F) ttc (F) gac (D) ggc (G) gag (E) ccg (P) tgg (W) ctc (L) aac (N) tcg (S) acg (T) gcg (A) agc (S) original frameshift length = 68 frameshift length = 68 frameshifted sequence: tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 68 91 F 158 * 68 kidney VHL 1 c.275_275delA p.D92fs*67 length of cdnaseq = 642 length of protseq = 213 275 275 A 1 92 2 92 2 a Total no. of codons in cdna seq = 214 gac gac start g-a end a-c g-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ctc (L) aac (N) ttc (F) gac (D) gac (D) ggc (G) gag (E) ccg (P) cag (Q) ctc (L) aac (N) ttc (F) gcg (A) gcg (A) agc (S) cgc (R) original frameshift length = 67 frameshift length = 67 frameshifted sequence: gcg (A) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 67 92 D 158 * 67 kidney VHL 1 c.278delG p.G93fs*66 length of cdnaseq = 642 length of protseq = 213 278 278 G 1 93 2 93 2 g Total no. of codons in cdna seq = 214 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga aac (N) ttc (F) gac (D) ggc (G) ggc (G) gag (E) ccg (P) cag (Q) ccc (P) aac (N) ttc (F) gac (D) gcg (A) agc (S) cgc (R) agc (S) original frameshift length = 66 frameshift length = 66 frameshifted sequence: gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 66 93 G 158 * 66 kidney VHL 1 c.279_280delCG p.E94fs*37 length of cdnaseq = 642 length of protseq = 213 279 280 CG 2 93 3 94 1 cg Total no. of codons in cdna seq = 214 ggc gag start g-c end g-a gg- -ag frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a aac (N) ttc (F) gac (D) ggc (G) gag (E) ccg (P) cag (Q) ccc (P) tac (Y) aac (N) ttc (F) gac (D) gga (G) gcc (A) gca (A) gcc (A) original frameshift length = 38 frameshift length = 38 frameshifted sequence: gga (G) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ggc (G) gag (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ggc (G) gga (G) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 37 94 E 130 * 37 kidney VHL 1 c.281_291del11 p.E94fs*34 length of cdnaseq = 642 length of protseq = 213 281 291 11 11 94 2 97 3 agccgcagccc Total no. of codons in cdna seq = 214 gag ccc start g-a post t end c-t g-- --- frameshift deletion length of cdnaseq after deletion = 631 ter codon is taa at posn 127 Protein length after deletion = 126 Total no. of codons in del cdnaseq = 211 last codon in array is a ttc (F) gac (D) ggc (G) gag (E) ccc (P) tac (Y) cca (P) acg (T) ctg (L) ttc (F) gac (D) ggc (G) gta (V) ccc (P) aac (N) gct (A) original frameshift length = 34 frameshift length = 34 frameshifted sequence: gta (V) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: gag (E) ccg (P) cag (Q) ccc (P) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 34 94 E 127 * 34 kidney VHL 1 c.281_296del16 p.P95fs*59 length of cdnaseq = 642 length of protseq = 213 281 296 16 16 94 2 99 2 agccgcagccctaccc Total no. of codons in cdna seq = 214 gag cca start g-a end c-a g-- --a frameshift deletion length of cdnaseq after deletion = 626 ter codon is tga at posn 153 Protein length after deletion = 152 Total no. of codons in del cdnaseq = 209 last codon in array is ga ttc (F) gac (D) ggc (G) gag (E) cca (P) acg (T) ctg (L) ccg (P) cct (P) ttc (F) gac (D) ggc (G) gaa (E) cgc (R) tgc (C) cgc (R) original frameshift length = 60 frameshift length = 60 frameshifted sequence: gaa (E) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gag (E) ccg (P) cag (Q) ccc (P) tac (Y) cca (P) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: gag (E) gaa (E) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 59 95 P 153 * 59 kidney VHL 1 c.282_291delGCCGCAGCCC p.E94fs*62 length of cdnaseq = 642 length of protseq = 213 282 291 GCCGCAGCCC 10 94 3 97 3 gccgcagccc Total no. of codons in cdna seq = 214 gag ccc start a-g post t end c-t ga- --- frameshift deletion length of cdnaseq after deletion = 632 ter codon is tga at posn 155 Protein length after deletion = 154 Total no. of codons in del cdnaseq = 211 last codon in array is ga ttc (F) gac (D) ggc (G) gag (E) ccc (P) tac (Y) cca (P) acg (T) ctg (L) ttc (F) gac (D) ggc (G) gat (D) acc (T) caa (Q) cgc (R) original frameshift length = 62 frameshift length = 62 frameshifted sequence: gat (D) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gag (E) ccg (P) cag (Q) ccc (P) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 62 94 E 155 * 62 kidney VHL 1 c.285_291delGCAGCCC p.Q96fs*61 length of cdnaseq = 642 length of protseq = 213 285 291 GCAGCCC 7 95 3 97 3 gcagccc Total no. of codons in cdna seq = 214 ccg ccc start c-g post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga gac (D) ggc (G) gag (E) ccg (P) ccc (P) tac (Y) cca (P) acg (T) ctg (L) gac (D) ggc (G) gag (E) cct (P) acc (T) caa (Q) cgc (R) original frameshift length = 62 frameshift length = 62 frameshifted sequence: cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ccg (P) cag (Q) ccc (P) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ccg (P) cct (P) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 61 96 Q 156 * 61 kidney VHL 1 c.286_286delC p.Q96fs*63 length of cdnaseq = 642 length of protseq = 213 286 286 C 1 96 1 96 1 c Total no. of codons in cdna seq = 214 cag cag prev g start g-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ggc (G) gag (E) ccg (P) cag (Q) cag (Q) ccc (P) tac (Y) cca (P) acg (T) ggc (G) gag (E) ccg (P) agc (S) cct (P) acc (T) caa (Q) original frameshift length = 63 frameshift length = 63 frameshifted sequence: agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 63 96 Q 158 * 63 kidney VHL 1 c.287_291delAGCCC p.Q96fs*34 length of cdnaseq = 642 length of protseq = 213 287 291 AGCCC 5 96 2 97 3 agccc Total no. of codons in cdna seq = 214 cag ccc start c-a post t end c-t c-- --- frameshift deletion length of cdnaseq after deletion = 637 ter codon is taa at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 213 last codon in array is a ggc (G) gag (E) ccg (P) cag (Q) ccc (P) tac (Y) cca (P) acg (T) ctg (L) ggc (G) gag (E) ccg (P) cta (L) ccc (P) aac (N) gct (A) original frameshift length = 34 frameshift length = 34 frameshifted sequence: cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cag (Q) ccc (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 34 96 Q 129 * 34 kidney VHL 1 c.288_291delGCCC p.Q96fs*62 length of cdnaseq = 642 length of protseq = 213 288 291 GCCC 4 96 3 97 3 gccc Total no. of codons in cdna seq = 214 cag ccc start a-g post t end c-t ca- --- frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga ggc (G) gag (E) ccg (P) cag (Q) ccc (P) tac (Y) cca (P) acg (T) ctg (L) ggc (G) gag (E) ccg (P) cat (H) acc (T) caa (Q) cgc (R) original frameshift length = 62 frameshift length = 62 frameshifted sequence: cat (H) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cag (Q) ccc (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 62 96 Q 157 * 62 kidney VHL 1 c.290_291delCC p.P97fs*34 length of cdnaseq = 642 length of protseq = 213 290 291 CC 2 97 2 97 3 cc Total no. of codons in cdna seq = 214 ccc ccc start c-c post t end c-t c-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a gag (E) ccg (P) cag (Q) ccc (P) ccc (P) tac (Y) cca (P) acg (T) ctg (L) gag (E) ccg (P) cag (Q) cta (L) ccc (P) aac (N) gct (A) original frameshift length = 34 frameshift length = 34 frameshifted sequence: cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 34 97 P 130 * 34 kidney VHL 1 c.290_299del10 p.P97fs*59 length of cdnaseq = 642 length of protseq = 213 290 299 10 10 97 2 100 2 cctacccaac Total no. of codons in cdna seq = 214 ccc acg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 632 ter codon is tga at posn 155 Protein length after deletion = 154 Total no. of codons in del cdnaseq = 211 last codon in array is ga gag (E) ccg (P) cag (Q) ccc (P) acg (T) ctg (L) ccg (P) cct (P) ggc (G) gag (E) ccg (P) cag (Q) cgc (R) tgc (C) cgc (R) ctg (L) original frameshift length = 59 frameshift length = 59 frameshifted sequence: cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ccc (P) tac (Y) cca (P) acg (T) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 59 97 P 155 * 59 kidney VHL 1 c.291_310del20 p.Y98fs*27 length of cdnaseq = 642 length of protseq = 213 291 310 20 20 97 3 104 1 ctacccaacgctgccgcctg Total no. of codons in cdna seq = 214 ccc ggc start c-c end g-g cc- -gc frameshift deletion length of cdnaseq after deletion = 622 ter codon is taa at posn 124 Protein length after deletion = 123 Total no. of codons in del cdnaseq = 208 last codon in array is a gag (E) ccg (P) cag (Q) ccc (P) ggc (G) acg (T) ggc (G) cgc (R) cgc (R) gag (E) ccg (P) cag (Q) ccg (P) cac (H) ggg (G) ccg (P) original frameshift length = 28 frameshift length = 28 frameshifted sequence: ccg (P) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ccc (P) tac (Y) cca (P) acg (T) ctg (L) ccg (P) cct (P) ggc (G) wt frameshift deln region length = 8 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 27 98 Y 124 * 27 kidney VHL 1 c.292_296delTACCC p.Y98fs*32 length of cdnaseq = 642 length of protseq = 213 292 296 TACCC 5 98 1 99 2 taccc Total no. of codons in cdna seq = 214 tac cca prev c start c-t end c-a --- --a frameshift deletion length of cdnaseq after deletion = 637 ter codon is taa at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 213 last codon in array is a ccg (P) cag (Q) ccc (P) tac (Y) cca (P) acg (T) ctg (L) ccg (P) cct (P) ccg (P) cag (Q) ccc (P) aac (N) gct (A) gcc (A) gcc (A) original frameshift length = 32 frameshift length = 32 frameshifted sequence: aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: tac (Y) cca (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 32 98 Y 129 * 32 kidney VHL 1 c.293delA p.Y98fs*61 length of cdnaseq = 642 length of protseq = 213 293 293 A 1 98 2 98 2 a Total no. of codons in cdna seq = 214 tac tac start t-a end a-c t-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ccg (P) cag (Q) ccc (P) tac (Y) tac (Y) cca (P) acg (T) ctg (L) ccg (P) ccg (P) cag (Q) ccc (P) tcc (S) caa (Q) cgc (R) tgc (C) original frameshift length = 61 frameshift length = 61 frameshifted sequence: tcc (S) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 61 98 Y 158 * 61 kidney VHL 1 c.294_294delC p.P99fs*60 length of cdnaseq = 642 length of protseq = 213 294 294 C 1 98 3 98 3 c Total no. of codons in cdna seq = 214 tac tac start a-c post c end c-c ta- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ccg (P) cag (Q) ccc (P) tac (Y) tac (Y) cca (P) acg (T) ctg (L) ccg (P) ccg (P) cag (Q) ccc (P) tac (Y) caa (Q) cgc (R) tgc (C) original frameshift length = 61 frameshift length = 61 frameshifted sequence: tac (Y) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tac (Y) tac (Y) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 60 99 P 158 * 60 kidney VHL 1 c.300_301delGC p.L101fs*30 length of cdnaseq = 642 length of protseq = 213 300 301 GC 2 100 3 101 1 gc Total no. of codons in cdna seq = 214 acg ctg start c-g end c-t ac- -tg frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a ccc (P) tac (Y) cca (P) acg (T) ctg (L) ccg (P) cct (P) ggc (G) acg (T) ccc (P) tac (Y) cca (P) act (T) gcc (A) gcc (A) tgg (W) original frameshift length = 31 frameshift length = 31 frameshifted sequence: act (T) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: acg (T) ctg (L) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: acg (T) act (T) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 30 101 L 130 * 30 kidney VHL 1 c.302_305delTGCC p.L101fs*57 length of cdnaseq = 642 length of protseq = 213 302 305 TGCC 4 101 2 102 2 tgcc Total no. of codons in cdna seq = 214 ctg ccg start c-t end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga tac (Y) cca (P) acg (T) ctg (L) ccg (P) cct (P) ggc (G) acg (T) ggc (G) tac (Y) cca (P) acg (T) cgc (R) ctg (L) gca (A) cgg (R) original frameshift length = 57 frameshift length = 57 frameshifted sequence: cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ctg (L) ccg (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 57 101 L 157 * 57 kidney VHL 1 c.305_312delCGCCTGGC p.P102fs*27 length of cdnaseq = 642 length of protseq = 213 305 312 CGCCTGGC 8 102 2 104 3 cgcctggc Total no. of codons in cdna seq = 214 ccg ggc start c-c post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 634 ter codon is taa at posn 128 Protein length after deletion = 127 Total no. of codons in del cdnaseq = 212 last codon in array is a cca (P) acg (T) ctg (L) ccg (P) ggc (G) acg (T) ggc (G) cgc (R) cgc (R) cca (P) acg (T) ctg (L) cac (H) ggg (G) ccg (P) ccg (P) original frameshift length = 27 frameshift length = 27 frameshifted sequence: cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ccg (P) cct (P) ggc (G) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 27 102 P 128 * 27 kidney VHL 1 c.306_306delG p.P103fs*56 length of cdnaseq = 642 length of protseq = 213 306 306 G 1 102 3 102 3 g Total no. of codons in cdna seq = 214 ccg ccg start c-g post c end g-c cc- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cca (P) acg (T) ctg (L) ccg (P) ccg (P) cct (P) ggc (G) acg (T) ggc (G) cca (P) acg (T) ctg (L) ccc (P) ctg (L) gca (A) cgg (R) original frameshift length = 57 frameshift length = 57 frameshifted sequence: ccc (P) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccg (P) ccc (P) first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 56 103 P 158 * 56 kidney VHL 1 c.307_311delCCTGG p.P103fs*27 length of cdnaseq = 642 length of protseq = 213 307 311 CCTGG 5 103 1 104 2 cctgg Total no. of codons in cdna seq = 214 cct ggc prev g start g-c end g-c --- --c frameshift deletion length of cdnaseq after deletion = 637 ter codon is taa at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 213 last codon in array is a acg (T) ctg (L) ccg (P) cct (P) ggc (G) acg (T) ggc (G) cgc (R) cgc (R) acg (T) ctg (L) ccg (P) cac (H) ggg (G) ccg (P) ccg (P) original frameshift length = 27 frameshift length = 27 frameshifted sequence: cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cct (P) ggc (G) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 27 103 P 129 * 27 kidney VHL 1 c.309_325del17 p.G104fs*22 length of cdnaseq = 642 length of protseq = 213 309 325 17 17 103 3 109 1 tggcacgggccgccgca Total no. of codons in cdna seq = 214 cct atc start c-t end a-t cc- -tc frameshift deletion length of cdnaseq after deletion = 625 ter codon is taa at posn 125 Protein length after deletion = 124 Total no. of codons in del cdnaseq = 209 last codon in array is a acg (T) ctg (L) ccg (P) cct (P) atc (I) cac (H) agc (S) tac (Y) cga (R) acg (T) ctg (L) ccg (P) cct (P) cca (P) cag (Q) cta (L) original frameshift length = 23 frameshift length = 23 frameshifted sequence: cct (P) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cct (P) ggc (G) acg (T) ggc (G) cgc (R) cgc (R) atc (I) wt frameshift deln region length = 7 matching aa in delstart region of wt and deletion mutant: cct (P) cct (P) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 22 104 G 125 * 22 kidney VHL 1 c.314delC p.T105fs*54 length of cdnaseq = 642 length of protseq = 213 314 314 C 1 105 2 105 2 c Total no. of codons in cdna seq = 214 acg acg start a-c end c-g a-- --g frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ccg (P) cct (P) ggc (G) acg (T) acg (T) ggc (G) cgc (R) cgc (R) atc (I) ccg (P) cct (P) ggc (G) agg (R) gcc (A) gcc (A) gca (A) original frameshift length = 54 frameshift length = 54 frameshifted sequence: agg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: acg (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : acg (T) final frameshift length = 54 105 T 158 * 54 kidney VHL 1 c.315_330del16 p.G106fs*49 length of cdnaseq = 642 length of protseq = 213 315 330 16 16 105 3 110 3 gggccgccgcatccac Total no. of codons in cdna seq = 214 acg cac start c-g post a end c-a ac- --- frameshift deletion length of cdnaseq after deletion = 626 ter codon is tga at posn 153 Protein length after deletion = 152 Total no. of codons in del cdnaseq = 209 last codon in array is ga ccg (P) cct (P) ggc (G) acg (T) cac (H) agc (S) tac (Y) cga (R) ggt (G) ccg (P) cct (P) ggc (G) aca (T) gct (A) acc (T) gag (E) original frameshift length = 49 frameshift length = 49 frameshifted sequence: aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: acg (T) ggc (G) cgc (R) cgc (R) atc (I) cac (H) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: acg (T) aca (T) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 48 106 G 154 * 49 kidney VHL 1 c.317_323delGCCGCCG p.G106fs*51 length of cdnaseq = 642 length of protseq = 213 317 323 GCCGCCG 7 106 2 108 2 gccgccg Total no. of codons in cdna seq = 214 ggc cgc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga cct (P) ggc (G) acg (T) ggc (G) cgc (R) atc (I) cac (H) agc (S) tac (Y) cct (P) ggc (G) acg (T) gca (A) tcc (S) aca (T) gct (A) original frameshift length = 51 frameshift length = 51 frameshifted sequence: gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ggc (G) cgc (R) cgc (R) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 51 106 G 156 * 51 kidney VHL 1 c.317delG p.G106fs*53 length of cdnaseq = 642 length of protseq = 213 317 317 G 1 106 2 106 2 g Total no. of codons in cdna seq = 214 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cct (P) ggc (G) acg (T) ggc (G) ggc (G) cgc (R) cgc (R) atc (I) cac (H) cct (P) ggc (G) acg (T) gcc (A) gcc (A) gca (A) tcc (S) original frameshift length = 53 frameshift length = 53 frameshifted sequence: gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 53 106 G 158 * 53 kidney VHL 1 c.319delC p.R107fs*52 length of cdnaseq = 642 length of protseq = 213 319 319 C 1 107 1 107 1 c Total no. of codons in cdna seq = 214 cgc cgc prev c start c-c end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ggc (G) acg (T) ggc (G) cgc (R) cgc (R) cgc (R) atc (I) cac (H) agc (S) ggc (G) acg (T) ggc (G) gcc (A) gca (A) tcc (S) aca (T) original frameshift length = 52 frameshift length = 52 frameshifted sequence: gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 52 107 R 158 * 52 kidney VHL 1 c.320_323delGCCG p.R107fs*51 length of cdnaseq = 642 length of protseq = 213 320 323 GCCG 4 107 2 108 2 gccg Total no. of codons in cdna seq = 214 cgc cgc start c-g end g-c c-- --c frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga ggc (G) acg (T) ggc (G) cgc (R) cgc (R) atc (I) cac (H) agc (S) tac (Y) ggc (G) acg (T) ggc (G) cca (P) tcc (S) aca (T) gct (A) original frameshift length = 51 frameshift length = 51 frameshifted sequence: cca (P) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) cgc (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 51 107 R 157 * 51 kidney VHL 1 c.321_321delC p.R108fs*51 length of cdnaseq = 642 length of protseq = 213 321 321 C 1 107 3 107 3 c Total no. of codons in cdna seq = 214 cgc cgc start g-c post c end c-c cg- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ggc (G) acg (T) ggc (G) cgc (R) cgc (R) cgc (R) atc (I) cac (H) agc (S) ggc (G) acg (T) ggc (G) cgc (R) gca (A) tcc (S) aca (T) original frameshift length = 52 frameshift length = 52 frameshifted sequence: cgc (R) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgc (R) cgc (R) first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 51 108 R 158 * 51 kidney VHL 1 c.324_324delC p.I109fs*50 length of cdnaseq = 642 length of protseq = 213 324 324 C 1 108 3 108 3 c Total no. of codons in cdna seq = 214 cgc cgc start g-c post a end c-a cg- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga acg (T) ggc (G) cgc (R) cgc (R) cgc (R) atc (I) cac (H) agc (S) tac (Y) acg (T) ggc (G) cgc (R) cga (R) tcc (S) aca (T) gct (A) original frameshift length = 51 frameshift length = 51 frameshifted sequence: cga (R) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgc (R) cga (R) first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 50 109 I 158 * 50 kidney VHL 1 c.327_327delC p.H110fs*49 length of cdnaseq = 642 length of protseq = 213 327 327 C 1 109 3 109 3 c Total no. of codons in cdna seq = 214 atc atc start t-c post c end c-c at- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ggc (G) cgc (R) cgc (R) atc (I) atc (I) cac (H) agc (S) tac (Y) cga (R) ggc (G) cgc (R) cgc (R) atc (I) aca (T) gct (A) acc (T) original frameshift length = 50 frameshift length = 50 frameshifted sequence: atc (I) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: atc (I) atc (I) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 49 110 H 158 * 49 kidney VHL 1 c.330delC p.H110fs*49 length of cdnaseq = 642 length of protseq = 213 330 330 C 1 110 3 110 3 c Total no. of codons in cdna seq = 214 cac cac start a-c post a end c-a ca- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cgc (R) cgc (R) atc (I) cac (H) cac (H) agc (S) tac (Y) cga (R) ggt (G) cgc (R) cgc (R) atc (I) caa (Q) gct (A) acc (T) gag (E) original frameshift length = 49 frameshift length = 49 frameshifted sequence: caa (Q) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 49 110 H 158 * 49 kidney VHL 1 c.331_340del10 p.S111fs*45 length of cdnaseq = 642 length of protseq = 213 331 340 10 10 111 1 114 1 agctaccgag Total no. of codons in cdna seq = 214 agc ggt prev c start c-a end g-g --- -gt frameshift deletion length of cdnaseq after deletion = 632 ter codon is tga at posn 155 Protein length after deletion = 154 Total no. of codons in del cdnaseq = 211 last codon in array is ga cgc (R) atc (I) cac (H) agc (S) ggt (G) cac (H) ctt (L) tgg (W) ctc (L) cgc (R) atc (I) cac (H) gtc (V) acc (T) ttt (F) ggc (G) original frameshift length = 45 frameshift length = 45 frameshifted sequence: gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: agc (S) tac (Y) cga (R) ggt (G) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 45 111 S 155 * 45 kidney VHL 1 c.331delA p.S111fs*48 length of cdnaseq = 642 length of protseq = 213 331 331 A 1 111 1 111 1 a Total no. of codons in cdna seq = 214 agc agc prev c start c-a end a-g --- -gc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cgc (R) atc (I) cac (H) agc (S) agc (S) tac (Y) cga (R) ggt (G) cac (H) cgc (R) atc (I) cac (H) gct (A) acc (T) gag (E) gtc (V) original frameshift length = 48 frameshift length = 48 frameshifted sequence: gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 48 111 S 158 * 48 kidney VHL 1 c.333_333delC p.Y112fs*47 length of cdnaseq = 642 length of protseq = 213 333 333 C 1 111 3 111 3 c Total no. of codons in cdna seq = 214 agc agc start g-c post t end c-t ag- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cgc (R) atc (I) cac (H) agc (S) agc (S) tac (Y) cga (R) ggt (G) cac (H) cgc (R) atc (I) cac (H) agt (S) acc (T) gag (E) gtc (V) original frameshift length = 48 frameshift length = 48 frameshifted sequence: agt (S) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agc (S) agt (S) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 47 112 Y 158 * 47 kidney VHL 1 c.336_336delC p.R113fs*46 length of cdnaseq = 642 length of protseq = 213 336 336 C 1 112 3 112 3 c Total no. of codons in cdna seq = 214 tac tac start a-c post c end c-c ta- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga atc (I) cac (H) agc (S) tac (Y) tac (Y) cga (R) ggt (G) cac (H) ctt (L) atc (I) cac (H) agc (S) tac (Y) gag (E) gtc (V) acc (T) original frameshift length = 47 frameshift length = 47 frameshifted sequence: tac (Y) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tac (Y) tac (Y) first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 46 113 R 158 * 46 kidney VHL 1 c.336_340delCCGAG p.Y112fs*1 length of cdnaseq = 642 length of protseq = 213 336 340 CCGAG 5 112 3 114 1 ccgag Total no. of codons in cdna seq = 214 tac ggt start a-c end g-g ta- -gt frameshift deletion length of cdnaseq after deletion = 637 ter codon is tag at posn 112 Protein length after deletion = 111 Total no. of codons in del cdnaseq = 213 last codon in array is a atc (I) cac (H) agc (S) tac (Y) ggt (G) cac (H) ctt (L) tgg (W) ctc (L) atc (I) cac (H) agc (S) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tac (Y) cga (R) ggt (G) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 1 112 Y 112 * 1 kidney VHL 1 c.339_340delAG p.G114fs*17 length of cdnaseq = 642 length of protseq = 213 339 340 AG 2 113 3 114 1 ag Total no. of codons in cdna seq = 214 cga ggt start g-a end g-g cg- -gt frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a cac (H) agc (S) tac (Y) cga (R) ggt (G) cac (H) ctt (L) tgg (W) ctc (L) cac (H) agc (S) tac (Y) cgg (R) tca (S) cct (P) ttg (L) original frameshift length = 18 frameshift length = 18 frameshifted sequence: cgg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cga (R) ggt (G) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cga (R) cgg (R) first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 17 114 G 130 * 17 kidney VHL 1 c.340delG p.G114fs*45 length of cdnaseq = 642 length of protseq = 213 340 340 G 1 114 1 114 1 g Total no. of codons in cdna seq = 214 ggt ggt prev a start a-g end g-g --- -gt frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga agc (S) tac (Y) cga (R) ggt (G) ggt (G) cac (H) ctt (L) tgg (W) ctc (L) agc (S) tac (Y) cga (R) gtc (V) acc (T) ttt (F) ggc (G) original frameshift length = 45 frameshift length = 45 frameshifted sequence: gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ggt (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 45 114 G 158 * 45 kidney VHL 1 c.342_348delTCACCTT p.H115fs*42 length of cdnaseq = 642 length of protseq = 213 342 348 TCACCTT 7 114 3 116 3 tcacctt Total no. of codons in cdna seq = 214 ggt ctt start g-t post t end t-t gg- --- frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga agc (S) tac (Y) cga (R) ggt (G) ctt (L) tgg (W) ctc (L) ttc (F) aga (R) agc (S) tac (Y) cga (R) ggt (G) ggc (G) tct (S) tca (S) original frameshift length = 43 frameshift length = 43 frameshifted sequence: ggt (G) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ggt (G) cac (H) ctt (L) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ggt (G) ggt (G) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 42 115 H 156 * 42 kidney VHL 1 c.342_351del10 p.H115fs*41 length of cdnaseq = 642 length of protseq = 213 342 351 10 10 114 3 117 3 tcacctttgg Total no. of codons in cdna seq = 214 ggt tgg start g-t post c end g-c gg- --- frameshift deletion length of cdnaseq after deletion = 632 ter codon is tga at posn 155 Protein length after deletion = 154 Total no. of codons in del cdnaseq = 211 last codon in array is ga agc (S) tac (Y) cga (R) ggt (G) tgg (W) ctc (L) ttc (F) aga (R) gat (D) agc (S) tac (Y) cga (R) ggc (G) tct (S) tca (S) gag (E) original frameshift length = 42 frameshift length = 42 frameshifted sequence: ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ggt (G) cac (H) ctt (L) tgg (W) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: ggt (G) ggc (G) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 41 115 H 155 * 41 kidney VHL 1 c.343_343delC p.H115fs*44 length of cdnaseq = 642 length of protseq = 213 343 343 C 1 115 1 115 1 c Total no. of codons in cdna seq = 214 cac cac prev t start t-c end c-a --- -ac frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga tac (Y) cga (R) ggt (G) cac (H) cac (H) ctt (L) tgg (W) ctc (L) ttc (F) tac (Y) cga (R) ggt (G) acc (T) ttt (F) ggc (G) tct (S) original frameshift length = 44 frameshift length = 44 frameshifted sequence: acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 44 115 H 158 * 44 kidney VHL 1 c.346_347delCT p.W117fs*14 length of cdnaseq = 642 length of protseq = 213 346 347 CT 2 116 1 116 2 ct Total no. of codons in cdna seq = 214 ctt ctt prev c start c-c end t-t --- --t frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a cga (R) ggt (G) cac (H) ctt (L) ctt (L) tgg (W) ctc (L) ttc (F) aga (R) cga (R) ggt (G) cac (H) ttg (L) gct (A) ctt (L) cag (Q) original frameshift length = 15 frameshift length = 15 frameshifted sequence: ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctt (L) ttg (L) first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 14 117 W 130 * 14 kidney VHL 1 c.346delC p.L116fs*43 length of cdnaseq = 642 length of protseq = 213 346 346 C 1 116 1 116 1 c Total no. of codons in cdna seq = 214 ctt ctt prev c start c-c end c-t --- -tt frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cga (R) ggt (G) cac (H) ctt (L) ctt (L) tgg (W) ctc (L) ttc (F) aga (R) cga (R) ggt (G) cac (H) ttt (F) ggc (G) tct (S) tca (S) original frameshift length = 43 frameshift length = 43 frameshifted sequence: ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 43 116 L 158 * 43 kidney VHL 1 c.347_347delT p.W117fs*42 length of cdnaseq = 642 length of protseq = 213 347 347 T 1 116 2 116 2 t Total no. of codons in cdna seq = 214 ctt ctt start c-t end t-t c-- --t frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cga (R) ggt (G) cac (H) ctt (L) ctt (L) tgg (W) ctc (L) ttc (F) aga (R) cga (R) ggt (G) cac (H) ctt (L) ggc (G) tct (S) tca (S) original frameshift length = 43 frameshift length = 43 frameshifted sequence: ctt (L) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 42 117 W 158 * 42 kidney VHL 1 c.348_354delTTGGCTC p.W117fs*40 length of cdnaseq = 642 length of protseq = 213 348 354 TTGGCTC 7 116 3 118 3 ttggctc Total no. of codons in cdna seq = 214 ctt ctc start t-t post t end c-t ct- --- frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga cga (R) ggt (G) cac (H) ctt (L) ctc (L) ttc (F) aga (R) gat (D) gca (A) cga (R) ggt (G) cac (H) ctt (L) tca (S) gag (E) atg (M) original frameshift length = 41 frameshift length = 41 frameshifted sequence: ctt (L) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ctt (L) tgg (W) ctc (L) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ctt (L) ctt (L) first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 40 117 W 156 * 40 kidney VHL 1 c.349_349delT p.W117fs*42 length of cdnaseq = 642 length of protseq = 213 349 349 T 1 117 1 117 1 t Total no. of codons in cdna seq = 214 tgg tgg prev t start t-t end t-g --- -gg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ggt (G) cac (H) ctt (L) tgg (W) tgg (W) ctc (L) ttc (F) aga (R) gat (D) ggt (G) cac (H) ctt (L) ggc (G) tct (S) tca (S) gag (E) original frameshift length = 42 frameshift length = 42 frameshifted sequence: ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: tgg (W) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 42 117 W 158 * 42 kidney VHL 1 c.351delG p.W117fs*42 length of cdnaseq = 642 length of protseq = 213 351 351 G 1 117 3 117 3 g Total no. of codons in cdna seq = 214 tgg tgg start g-g post c end g-c tg- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ggt (G) cac (H) ctt (L) tgg (W) tgg (W) ctc (L) ttc (F) aga (R) gat (D) ggt (G) cac (H) ctt (L) tgc (C) tct (S) tca (S) gag (E) original frameshift length = 42 frameshift length = 42 frameshifted sequence: tgc (C) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: tgg (W) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 42 117 W 158 * 42 kidney VHL 1 c.355_359delTTCAG p.F119fs*11 length of cdnaseq = 642 length of protseq = 213 355 359 TTCAG 5 119 1 120 2 ttcag Total no. of codons in cdna seq = 214 ttc aga prev c start c-t end g-a --- --a frameshift deletion length of cdnaseq after deletion = 637 ter codon is taa at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 213 last codon in array is a ctt (L) tgg (W) ctc (L) ttc (F) aga (R) gat (D) gca (A) ggg (G) aca (T) ctt (L) tgg (W) ctc (L) aga (R) tgc (C) agg (R) gac (D) original frameshift length = 11 frameshift length = 11 frameshifted sequence: aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ttc (F) aga (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 11 119 F 129 * 11 kidney VHL 1 c.357_357delC p.F119fs*40 length of cdnaseq = 642 length of protseq = 213 357 357 C 1 119 3 119 3 c Total no. of codons in cdna seq = 214 ttc ttc start t-c post a end c-a tt- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ctt (L) tgg (W) ctc (L) ttc (F) ttc (F) aga (R) gat (D) gca (A) ggg (G) ctt (L) tgg (W) ctc (L) tta (L) gag (E) atg (M) cag (Q) original frameshift length = 40 frameshift length = 40 frameshifted sequence: tta (L) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ttc (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 40 119 F 158 * 40 kidney VHL 1 c.358_359delAG p.D121fs*10 length of cdnaseq = 642 length of protseq = 213 358 359 AG 2 120 1 120 2 ag Total no. of codons in cdna seq = 214 aga aga prev c start c-a end g-a --- --a frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a tgg (W) ctc (L) ttc (F) aga (R) aga (R) gat (D) gca (A) ggg (G) aca (T) tgg (W) ctc (L) ttc (F) aga (R) tgc (C) agg (R) gac (D) original frameshift length = 11 frameshift length = 11 frameshifted sequence: aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aga (R) aga (R) first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 10 121 D 130 * 10 kidney VHL 1 c.358_361delAGAG p.R120fs*38 length of cdnaseq = 642 length of protseq = 213 358 361 AGAG 4 120 1 121 1 agag Total no. of codons in cdna seq = 214 aga gat prev c start c-a end g-a --- -at frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga tgg (W) ctc (L) ttc (F) aga (R) gat (D) gca (A) ggg (G) aca (T) cac (H) tgg (W) ctc (L) ttc (F) atg (M) cag (Q) gga (G) cac (H) original frameshift length = 38 frameshift length = 38 frameshifted sequence: atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aga (R) gat (D) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 38 120 R 157 * 38 kidney VHL 1 c.359_374delGAGATGCAGGGACACA p.R120fs*34 length of cdnaseq = 642 length of protseq = 213 359 374 GAGATGCAGGGACACA 16 120 2 125 2 gagatgcagggacaca Total no. of codons in cdna seq = 214 aga cac start a-g end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 626 ter codon is tga at posn 153 Protein length after deletion = 152 Total no. of codons in del cdnaseq = 209 last codon in array is ga tgg (W) ctc (L) ttc (F) aga (R) cac (H) gat (D) ggg (G) ctt (L) ctg (L) tgg (W) ctc (L) ttc (F) acg (T) atg (M) ggc (G) ttc (F) original frameshift length = 34 frameshift length = 34 frameshifted sequence: acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aga (R) gat (D) gca (A) ggg (G) aca (T) cac (H) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 34 120 R 153 * 34 kidney VHL 1 c.359delG p.R120fs*39 length of cdnaseq = 642 length of protseq = 213 359 359 G 1 120 2 120 2 g Total no. of codons in cdna seq = 214 aga aga start a-g end g-a a-- --a frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga tgg (W) ctc (L) ttc (F) aga (R) aga (R) gat (D) gca (A) ggg (G) aca (T) tgg (W) ctc (L) ttc (F) aag (K) atg (M) cag (Q) gga (G) original frameshift length = 39 frameshift length = 39 frameshifted sequence: aag (K) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 39 120 R 158 * 39 kidney VHL 1 c.366_367delAG p.G123fs*8 length of cdnaseq = 642 length of protseq = 213 366 367 AG 2 122 3 123 1 ag Total no. of codons in cdna seq = 214 gca ggg start c-a end g-g gc- -gg frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a ttc (F) aga (R) gat (D) gca (A) ggg (G) aca (T) cac (H) gat (D) ggg (G) ttc (F) aga (R) gat (D) gcg (A) gac (D) aca (T) cga (R) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gcg (A) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: gca (A) ggg (G) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gca (A) gcg (A) first wt aa affected by frameshift deletion is : ggg (G) final frameshift length = 8 123 G 130 * 8 kidney VHL 1 c.369_369delG p.T124fs*35 length of cdnaseq = 642 length of protseq = 213 369 369 G 1 123 3 123 3 g Total no. of codons in cdna seq = 214 ggg ggg start g-g post a end g-a gg- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga aga (R) gat (D) gca (A) ggg (G) ggg (G) aca (T) cac (H) gat (D) ggg (G) aga (R) gat (D) gca (A) gga (G) cac (H) acg (T) atg (M) original frameshift length = 36 frameshift length = 36 frameshifted sequence: gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 35 124 T 158 * 35 kidney VHL 1 c.370_370delA p.T124fs*35 length of cdnaseq = 642 length of protseq = 213 370 370 A 1 124 1 124 1 a Total no. of codons in cdna seq = 214 aca aca prev g start g-a end a-c --- -ca frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gat (D) gca (A) ggg (G) aca (T) aca (T) cac (H) gat (D) ggg (G) ctt (L) gat (D) gca (A) ggg (G) cac (H) acg (T) atg (M) ggc (G) original frameshift length = 35 frameshift length = 35 frameshifted sequence: cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 35 124 T 158 * 35 kidney VHL 1 c.370_371delAC p.H125fs*6 length of cdnaseq = 642 length of protseq = 213 370 371 AC 2 124 1 124 2 ac Total no. of codons in cdna seq = 214 aca aca prev g start g-a end c-a --- --a frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a gat (D) gca (A) ggg (G) aca (T) aca (T) cac (H) gat (D) ggg (G) ctt (L) gat (D) gca (A) ggg (G) aca (T) cga (R) tgg (W) gct (A) original frameshift length = 7 frameshift length = 7 frameshifted sequence: aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aca (T) aca (T) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 6 125 H 130 * 6 kidney VHL 1 c.373_373delC p.H125fs*34 length of cdnaseq = 642 length of protseq = 213 373 373 C 1 125 1 125 1 c Total no. of codons in cdna seq = 214 cac cac prev a start a-c end c-a --- -ac frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gca (A) ggg (G) aca (T) cac (H) cac (H) gat (D) ggg (G) ctt (L) ctg (L) gca (A) ggg (G) aca (T) acg (T) atg (M) ggc (G) ttc (F) original frameshift length = 34 frameshift length = 34 frameshifted sequence: acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 34 125 H 158 * 34 kidney VHL 1 c.374_375delAC p.H125fs*6 length of cdnaseq = 642 length of protseq = 213 374 375 AC 2 125 2 125 3 ac Total no. of codons in cdna seq = 214 cac cac start c-a post g end c-g c-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a gca (A) ggg (G) aca (T) cac (H) cac (H) gat (D) ggg (G) ctt (L) ctg (L) gca (A) ggg (G) aca (T) cga (R) tgg (W) gct (A) tct (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 6 125 H 130 * 6 kidney VHL 1 c.375_376delCG p.H125fs*6 length of cdnaseq = 642 length of protseq = 213 375 376 CG 2 125 3 126 1 cg Total no. of codons in cdna seq = 214 cac gat start a-c end g-a ca- -at frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a gca (A) ggg (G) aca (T) cac (H) gat (D) ggg (G) ctt (L) ctg (L) gtt (V) gca (A) ggg (G) aca (T) caa (Q) tgg (W) gct (A) tct (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: caa (Q) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cac (H) gat (D) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 6 125 H 130 * 6 kidney VHL 1 c.378_379delTG p.D126fs*5 length of cdnaseq = 642 length of protseq = 213 378 379 TG 2 126 3 127 1 tg Total no. of codons in cdna seq = 214 gat ggg start a-t end g-g ga- -gg frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a ggg (G) aca (T) cac (H) gat (D) ggg (G) ctt (L) ctg (L) gtt (V) aac (N) ggg (G) aca (T) cac (H) gag (E) gct (A) tct (S) ggt (G) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gag (E) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: gat (D) ggg (G) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 5 126 D 130 * 5 kidney VHL 1 c.378delT p.D126fs*33 length of cdnaseq = 642 length of protseq = 213 378 378 T 1 126 3 126 3 t Total no. of codons in cdna seq = 214 gat gat start a-t post g end t-g ga- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ggg (G) aca (T) cac (H) gat (D) gat (D) ggg (G) ctt (L) ctg (L) gtt (V) ggg (G) aca (T) cac (H) gag (E) ggc (G) ttc (F) tgg (W) original frameshift length = 33 frameshift length = 33 frameshifted sequence: gag (E) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 33 126 D 158 * 33 kidney VHL 1 c.380_381delGG p.G127fs*4 length of cdnaseq = 642 length of protseq = 213 380 381 GG 2 127 2 127 3 gg Total no. of codons in cdna seq = 214 ggg ggg start g-g post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a aca (T) cac (H) gat (D) ggg (G) ggg (G) ctt (L) ctg (L) gtt (V) aac (N) aca (T) cac (H) gat (D) gct (A) tct (S) ggt (G) taa (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggg (G) final frameshift length = 4 127 G 130 * 4 kidney VHL 1 c.382_382delC p.L128fs*31 length of cdnaseq = 642 length of protseq = 213 382 382 C 1 128 1 128 1 c Total no. of codons in cdna seq = 214 ctt ctt prev g start g-c end c-t --- -tt frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cac (H) gat (D) ggg (G) ctt (L) ctt (L) ctg (L) gtt (V) aac (N) caa (Q) cac (H) gat (D) ggg (G) ttc (F) tgg (W) tta (L) acc (T) original frameshift length = 31 frameshift length = 31 frameshifted sequence: ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ctt (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 31 128 L 158 * 31 kidney VHL 1 c.389_389delT p.V130fs*29 length of cdnaseq = 642 length of protseq = 213 389 389 T 1 130 2 130 2 t Total no. of codons in cdna seq = 214 gtt gtt start g-t end t-t g-- --t frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ggg (G) ctt (L) ctg (L) gtt (V) gtt (V) aac (N) caa (Q) act (T) gaa (E) ggg (G) ctt (L) ctg (L) gta (V) acc (T) aaa (K) ctg (L) original frameshift length = 29 frameshift length = 29 frameshifted sequence: gta (V) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gtt (V) gta (V) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 28 130 V 158 * 29 N V 1 kidney VHL c.389_389delT p.V130fs*29 kidney VHL 1 c.389_392delTTAA p.V130fs*28 length of cdnaseq = 642 length of protseq = 213 389 392 TTAA 4 130 2 131 2 ttaa Total no. of codons in cdna seq = 214 gtt aac start g-t end a-c g-- --c frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga ggg (G) ctt (L) ctg (L) gtt (V) aac (N) caa (Q) act (T) gaa (E) tta (L) ggg (G) ctt (L) ctg (L) gcc (A) aaa (K) ctg (L) aat (N) original frameshift length = 28 frameshift length = 28 frameshifted sequence: gcc (A) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtt (V) aac (N) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 28 130 V 157 * 28 kidney VHL 1 c.393_400delCCAAACTG p.N131fs*10 length of cdnaseq = 642 length of protseq = 213 393 400 CCAAACTG 8 131 3 134 1 ccaaactg Total no. of codons in cdna seq = 214 aac gaa start a-c end g-a aa- -aa frameshift deletion length of cdnaseq after deletion = 634 ter codon is tga at posn 140 Protein length after deletion = 139 Total no. of codons in del cdnaseq = 212 last codon in array is a ctt (L) ctg (L) gtt (V) aac (N) gaa (E) tta (L) ttt (F) gtg (V) cca (P) ctt (L) ctg (L) gtt (V) aaa (K) att (I) att (I) tgt (C) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aaa (K) att (I) att (I) tgt (C) gcc (A) atc (I) tct (S) caa (Q) tgt (C) tga (TER) wild type sequence in deletion region: aac (N) caa (Q) act (T) gaa (E) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 10 131 N 140 * 10 kidney VHL 1 c.395_396delAA p.Q132fs*2 length of cdnaseq = 642 length of protseq = 213 395 396 AA 2 132 2 132 3 aa Total no. of codons in cdna seq = 214 caa caa start c-a post a end a-a c-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 133 Protein length after deletion = 132 Total no. of codons in del cdnaseq = 214 last codon in array is a ctg (L) gtt (V) aac (N) caa (Q) caa (Q) act (T) gaa (E) tta (L) ttt (F) ctg (L) gtt (V) aac (N) cac (H) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: cac (H) tga (TER) wild type sequence in deletion region: caa (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : caa (Q) final frameshift length = 2 132 Q 133 * 2 kidney VHL 1 c.397_400delACTG p.T133fs*25 length of cdnaseq = 642 length of protseq = 213 397 400 ACTG 4 133 1 134 1 actg Total no. of codons in cdna seq = 214 act gaa prev a start a-a end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga gtt (V) aac (N) caa (Q) act (T) gaa (E) tta (L) ttt (F) gtg (V) cca (P) gtt (V) aac (N) caa (Q) aat (N) tat (Y) ttg (L) tgc (C) original frameshift length = 25 frameshift length = 25 frameshifted sequence: aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: act (T) gaa (E) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 25 133 T 157 * 25 kidney VHL 1 c.400delG p.E134fs*25 length of cdnaseq = 642 length of protseq = 213 400 400 G 1 134 1 134 1 g Total no. of codons in cdna seq = 214 gaa gaa prev t start t-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga aac (N) caa (Q) act (T) gaa (E) gaa (E) tta (L) ttt (F) gtg (V) cca (P) aac (N) caa (Q) act (T) aat (N) tat (Y) ttg (L) tgc (C) original frameshift length = 25 frameshift length = 25 frameshifted sequence: aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 25 134 E 158 * 25 kidney VHL 1 c.402delA p.E134fs*25 length of cdnaseq = 642 length of protseq = 213 402 402 A 1 134 3 134 3 a Total no. of codons in cdna seq = 214 gaa gaa start a-a post t end a-t ga- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga aac (N) caa (Q) act (T) gaa (E) gaa (E) tta (L) ttt (F) gtg (V) cca (P) aac (N) caa (Q) act (T) gat (D) tat (Y) ttg (L) tgc (C) original frameshift length = 25 frameshift length = 25 frameshifted sequence: gat (D) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 25 134 E 158 * 25 kidney VHL 1 c.405_409delATTTG p.L135fs*7 length of cdnaseq = 642 length of protseq = 213 405 409 ATTTG 5 135 3 137 1 atttg Total no. of codons in cdna seq = 214 tta gtg start t-a end g-t tt- -tg frameshift deletion length of cdnaseq after deletion = 637 ter codon is tga at posn 141 Protein length after deletion = 140 Total no. of codons in del cdnaseq = 213 last codon in array is a caa (Q) act (T) gaa (E) tta (L) gtg (V) cca (P) tct (S) ctc (L) aat (N) caa (Q) act (T) gaa (E) ttt (F) gcc (A) atc (I) tct (S) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ttt (F) gcc (A) atc (I) tct (S) caa (Q) tgt (C) tga (TER) wild type sequence in deletion region: tta (L) ttt (F) gtg (V) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 7 135 L 141 * 7 kidney VHL 1 c.406_406delT p.F136fs*23 length of cdnaseq = 642 length of protseq = 213 406 406 T 1 136 1 136 1 t Total no. of codons in cdna seq = 214 ttt ttt prev a start a-t end t-t --- -tt frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga act (T) gaa (E) tta (L) ttt (F) ttt (F) gtg (V) cca (P) tct (S) ctc (L) act (T) gaa (E) tta (L) ttg (L) tgc (C) cat (H) ctc (L) original frameshift length = 23 frameshift length = 23 frameshifted sequence: ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 23 136 F 158 * 23 kidney VHL 1 c.413_414delCA p.P138fs*5 length of cdnaseq = 642 length of protseq = 213 413 414 CA 2 138 2 138 3 ca Total no. of codons in cdna seq = 214 cca cca start c-c post t end a-t c-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 142 Protein length after deletion = 141 Total no. of codons in del cdnaseq = 214 last codon in array is a tta (L) ttt (F) gtg (V) cca (P) cca (P) tct (S) ctc (L) aat (N) gtt (V) tta (L) ttt (F) gtg (V) ctc (L) tct (S) caa (Q) tgt (C) original frameshift length = 5 frameshift length = 5 frameshifted sequence: ctc (L) tct (S) caa (Q) tgt (C) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 5 138 P 142 * 5 kidney VHL 1 c.415_416delTC p.L140fs*3 length of cdnaseq = 642 length of protseq = 213 415 416 TC 2 139 1 139 2 tc Total no. of codons in cdna seq = 214 tct tct prev a start a-t end c-t --- --t frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 142 Protein length after deletion = 141 Total no. of codons in del cdnaseq = 214 last codon in array is a ttt (F) gtg (V) cca (P) tct (S) tct (S) ctc (L) aat (N) gtt (V) gac (D) ttt (F) gtg (V) cca (P) tct (S) caa (Q) tgt (C) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tct (S) caa (Q) tgt (C) tga (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tct (S) tct (S) first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 3 140 L 142 * 3 kidney VHL 1 c.419_420delTC p.L140fs*3 length of cdnaseq = 642 length of protseq = 213 419 420 TC 2 140 2 140 3 tc Total no. of codons in cdna seq = 214 ctc ctc start c-t post a end c-a c-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 142 Protein length after deletion = 141 Total no. of codons in del cdnaseq = 214 last codon in array is a gtg (V) cca (P) tct (S) ctc (L) ctc (L) aat (N) gtt (V) gac (D) gga (G) gtg (V) cca (P) tct (S) caa (Q) tgt (C) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: caa (Q) tgt (C) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 3 140 L 142 * 3 kidney VHL 1 c.419delT p.L140fs*19 length of cdnaseq = 642 length of protseq = 213 419 419 T 1 140 2 140 2 t Total no. of codons in cdna seq = 214 ctc ctc start c-t end t-c c-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gtg (V) cca (P) tct (S) ctc (L) ctc (L) aat (N) gtt (V) gac (D) gga (G) gtg (V) cca (P) tct (S) cca (P) atg (M) ttg (L) acg (T) original frameshift length = 19 frameshift length = 19 frameshifted sequence: cca (P) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 19 140 L 158 * 19 kidney VHL 1 c.420_420delC p.N141fs*18 length of cdnaseq = 642 length of protseq = 213 420 420 C 1 140 3 140 3 c Total no. of codons in cdna seq = 214 ctc ctc start t-c post a end c-a ct- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gtg (V) cca (P) tct (S) ctc (L) ctc (L) aat (N) gtt (V) gac (D) gga (G) gtg (V) cca (P) tct (S) cta (L) atg (M) ttg (L) acg (T) original frameshift length = 19 frameshift length = 19 frameshifted sequence: cta (L) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ctc (L) cta (L) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 18 141 N 158 * 18 kidney VHL 1 c.421_421delA p.N141fs*18 length of cdnaseq = 642 length of protseq = 213 421 421 A 1 141 1 141 1 a Total no. of codons in cdna seq = 214 aat aat prev c start c-a end a-a --- -at frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cca (P) tct (S) ctc (L) aat (N) aat (N) gtt (V) gac (D) gga (G) cag (Q) cca (P) tct (S) ctc (L) atg (M) ttg (L) acg (T) gac (D) original frameshift length = 18 frameshift length = 18 frameshifted sequence: atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 18 141 N 158 * 18 kidney VHL 1 c.421_427delAATGTTG p.N141fs*16 length of cdnaseq = 642 length of protseq = 213 421 427 AATGTTG 7 141 1 143 1 aatgttg Total no. of codons in cdna seq = 214 aat gac prev c start c-a end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga cca (P) tct (S) ctc (L) aat (N) gac (D) gga (G) cag (Q) cct (P) att (I) cca (P) tct (S) ctc (L) acg (T) gac (D) agc (S) cta (L) original frameshift length = 16 frameshift length = 16 frameshifted sequence: acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aat (N) gtt (V) gac (D) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 16 141 N 156 * 16 kidney VHL 1 c.422_423delAT p.N141fs*2 length of cdnaseq = 642 length of protseq = 213 422 423 AT 2 141 2 141 3 at Total no. of codons in cdna seq = 214 aat aat start a-a post g end t-g a-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 142 Protein length after deletion = 141 Total no. of codons in del cdnaseq = 214 last codon in array is a cca (P) tct (S) ctc (L) aat (N) aat (N) gtt (V) gac (D) gga (G) cag (Q) cca (P) tct (S) ctc (L) agt (S) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: agt (S) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 2 141 N 142 * 2 kidney VHL 1 c.422_428delATGTTGA p.N141fs*16 length of cdnaseq = 642 length of protseq = 213 422 428 ATGTTGA 7 141 2 143 2 atgttga Total no. of codons in cdna seq = 214 aat gac start a-a end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga cca (P) tct (S) ctc (L) aat (N) gac (D) gga (G) cag (Q) cct (P) att (I) cca (P) tct (S) ctc (L) acg (T) gac (D) agc (S) cta (L) original frameshift length = 16 frameshift length = 16 frameshifted sequence: acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aat (N) gtt (V) gac (D) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 16 141 N 156 * 16 kidney VHL 1 c.423_424delTG p.V142fs*1 length of cdnaseq = 642 length of protseq = 213 423 424 TG 2 141 3 142 1 tg Total no. of codons in cdna seq = 214 aat gtt start a-t end g-t aa- -tt frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 142 Protein length after deletion = 141 Total no. of codons in del cdnaseq = 214 last codon in array is a cca (P) tct (S) ctc (L) aat (N) gtt (V) gac (D) gga (G) cag (Q) cct (P) cca (P) tct (S) ctc (L) aat (N) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: aat (N) tga (TER) wild type sequence in deletion region: aat (N) gtt (V) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aat (N) aat (N) first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 1 142 V 142 * 1 kidney VHL 1 c.423_430delTGTTGACG p.N141fs*30 length of cdnaseq = 642 length of protseq = 213 423 430 TGTTGACG 8 141 3 144 1 tgttgacg Total no. of codons in cdna seq = 214 aat gga start a-t end g-g aa- -ga frameshift deletion length of cdnaseq after deletion = 634 ter codon is tga at posn 170 Protein length after deletion = 169 Total no. of codons in del cdnaseq = 212 last codon in array is a cca (P) tct (S) ctc (L) aat (N) gga (G) cag (Q) cct (P) att (I) ttt (F) cca (P) tct (S) ctc (L) aag (K) aca (T) gcc (A) tat (Y) original frameshift length = 30 frameshift length = 30 frameshifted sequence: aag (K) aca (T) gcc (A) tat (Y) ttt (F) tgc (C) caa (Q) tat (Y) cac (H) act (T) gcc (A) agt (S) gta (V) tac (Y) tct (S) gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: aat (N) gtt (V) gac (D) gga (G) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 30 141 N 170 * 30 kidney VHL 1 c.424_424delG p.V142fs*17 length of cdnaseq = 642 length of protseq = 213 424 424 G 1 142 1 142 1 g Total no. of codons in cdna seq = 214 gtt gtt prev t start t-g end g-t --- -tt frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga tct (S) ctc (L) aat (N) gtt (V) gtt (V) gac (D) gga (G) cag (Q) cct (P) tct (S) ctc (L) aat (N) ttg (L) acg (T) gac (D) agc (S) original frameshift length = 17 frameshift length = 17 frameshifted sequence: ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 17 142 V 158 * 17 kidney VHL 1 c.425_429delTTGAC p.V142fs*30 length of cdnaseq = 642 length of protseq = 213 425 429 TTGAC 5 142 2 143 3 ttgac Total no. of codons in cdna seq = 214 gtt gac start g-t post g end c-g g-- --- frameshift deletion length of cdnaseq after deletion = 637 ter codon is tga at posn 171 Protein length after deletion = 170 Total no. of codons in del cdnaseq = 213 last codon in array is a tct (S) ctc (L) aat (N) gtt (V) gac (D) gga (G) cag (Q) cct (P) att (I) tct (S) ctc (L) aat (N) ggg (G) aca (T) gcc (A) tat (Y) original frameshift length = 30 frameshift length = 30 frameshifted sequence: ggg (G) aca (T) gcc (A) tat (Y) ttt (F) tgc (C) caa (Q) tat (Y) cac (H) act (T) gcc (A) agt (S) gta (V) tac (Y) tct (S) gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: gtt (V) gac (D) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 30 142 V 171 * 30 kidney VHL 1 c.426_426delT p.V142fs*17 length of cdnaseq = 642 length of protseq = 213 426 426 T 1 142 3 142 3 t Total no. of codons in cdna seq = 214 gtt gtt start t-t post g end t-g gt- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga tct (S) ctc (L) aat (N) gtt (V) gtt (V) gac (D) gga (G) cag (Q) cct (P) tct (S) ctc (L) aat (N) gtg (V) acg (T) gac (D) agc (S) original frameshift length = 17 frameshift length = 17 frameshifted sequence: gtg (V) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gtt (V) gtg (V) first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 16 142 V 158 * 17 D V 1 kidney VHL c.426_426delT p.V142fs*17 kidney VHL 1 c.429_460del32 p.G144fs*19 length of cdnaseq = 642 length of protseq = 213 429 460 32 32 143 3 154 1 cggacagcctatttttgccaatatcacactgc Total no. of codons in cdna seq = 214 gac cca start a-c end c-c ga- -ca frameshift deletion length of cdnaseq after deletion = 610 ter codon is tga at posn 162 Protein length after deletion = 161 Total no. of codons in del cdnaseq = 204 last codon in array is a ctc (L) aat (N) gtt (V) gac (D) cca (P) gtg (V) tat (Y) act (T) ctg (L) ctc (L) aat (N) gtt (V) gac (D) agt (S) gta (V) tac (Y) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gac (D) agt (S) gta (V) tac (Y) tct (S) gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: gac (D) gga (G) cag (Q) cct (P) att (I) ttt (F) gcc (A) aat (N) atc (I) aca (T) ctg (L) cca (P) wt frameshift deln region length = 12 matching aa in delstart region of wt and deletion mutant: gac (D) gac (D) first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 19 144 G 162 * 19 kidney VHL 1 c.429delC p.D143fs*16 length of cdnaseq = 642 length of protseq = 213 429 429 C 1 143 3 143 3 c Total no. of codons in cdna seq = 214 gac gac start a-c post g end c-g ga- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ctc (L) aat (N) gtt (V) gac (D) gac (D) gga (G) cag (Q) cct (P) att (I) ctc (L) aat (N) gtt (V) gag (E) gac (D) agc (S) cta (L) original frameshift length = 16 frameshift length = 16 frameshifted sequence: gag (E) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 16 143 D 158 * 16 kidney VHL 1 c.430_433delGGAC p.G144fs*14 length of cdnaseq = 642 length of protseq = 213 430 433 GGAC 4 144 1 145 1 ggac Total no. of codons in cdna seq = 214 gga cag prev c start c-g end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga aat (N) gtt (V) gac (D) gga (G) cag (Q) cct (P) att (I) ttt (F) gcc (A) aat (N) gtt (V) gac (D) agc (S) cta (L) ttt (F) ttg (L) original frameshift length = 14 frameshift length = 14 frameshifted sequence: agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gga (G) cag (Q) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 14 144 G 157 * 14 kidney VHL 1 c.432_438delACAGCCT p.Q145fs*12 length of cdnaseq = 642 length of protseq = 213 432 438 ACAGCCT 7 144 3 146 3 acagcct Total no. of codons in cdna seq = 214 gga cct start g-a post a end t-a gg- --- frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga aat (N) gtt (V) gac (D) gga (G) cct (P) att (I) ttt (F) gcc (A) aat (N) aat (N) gtt (V) gac (D) gga (G) ttt (F) ttg (L) cca (P) original frameshift length = 13 frameshift length = 13 frameshifted sequence: gga (G) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gga (G) cag (Q) cct (P) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: gga (G) gga (G) first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 12 145 Q 156 * 12 kidney VHL 1 c.435_438delGCCT p.P146fs*12 length of cdnaseq = 642 length of protseq = 213 435 438 GCCT 4 145 3 146 3 gcct Total no. of codons in cdna seq = 214 cag cct start a-g post a end t-a ca- --- frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga gtt (V) gac (D) gga (G) cag (Q) cct (P) att (I) ttt (F) gcc (A) aat (N) gtt (V) gac (D) gga (G) caa (Q) ttt (F) ttg (L) cca (P) original frameshift length = 13 frameshift length = 13 frameshifted sequence: caa (Q) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cag (Q) cct (P) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: cag (Q) caa (Q) first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 12 146 P 157 * 12 kidney VHL 1 c.436delC p.P146fs*13 length of cdnaseq = 642 length of protseq = 213 436 436 C 1 146 1 146 1 c Total no. of codons in cdna seq = 214 cct cct prev g start g-c end c-c --- -ct frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gac (D) gga (G) cag (Q) cct (P) cct (P) att (I) ttt (F) gcc (A) aat (N) gac (D) gga (G) cag (Q) cta (L) ttt (F) ttg (L) cca (P) original frameshift length = 13 frameshift length = 13 frameshifted sequence: cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 13 146 P 158 * 13 kidney VHL 1 c.437_450del14 p.P146fs*23 length of cdnaseq = 642 length of protseq = 213 437 450 14 14 146 2 150 3 ctatttttgccaat Total no. of codons in cdna seq = 214 cct aat start c-c post a end t-a c-- --- frameshift deletion length of cdnaseq after deletion = 628 ter codon is tga at posn 168 Protein length after deletion = 167 Total no. of codons in del cdnaseq = 210 last codon in array is a gac (D) gga (G) cag (Q) cct (P) aat (N) atc (I) aca (T) ctg (L) cca (P) gac (D) gga (G) cag (Q) cat (H) cac (H) act (T) gcc (A) original frameshift length = 23 frameshift length = 23 frameshifted sequence: cat (H) cac (H) act (T) gcc (A) agt (S) gta (V) tac (Y) tct (S) gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: cct (P) att (I) ttt (F) gcc (A) aat (N) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 23 146 P 168 * 23 kidney VHL 1 c.439_443delATTTT p.I147fs*25 length of cdnaseq = 642 length of protseq = 213 439 443 ATTTT 5 147 1 148 2 atttt Total no. of codons in cdna seq = 214 att ttt prev t start t-a end t-t --- --t frameshift deletion length of cdnaseq after deletion = 637 ter codon is tga at posn 171 Protein length after deletion = 170 Total no. of codons in del cdnaseq = 213 last codon in array is a gga (G) cag (Q) cct (P) att (I) ttt (F) gcc (A) aat (N) atc (I) aca (T) gga (G) cag (Q) cct (P) tgc (C) caa (Q) tat (Y) cac (H) original frameshift length = 25 frameshift length = 25 frameshifted sequence: tgc (C) caa (Q) tat (Y) cac (H) act (T) gcc (A) agt (S) gta (V) tac (Y) tct (S) gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: att (I) ttt (F) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 25 147 I 171 * 25 kidney VHL 1 c.439delA p.I147fs*12 length of cdnaseq = 642 length of protseq = 213 439 439 A 1 147 1 147 1 a Total no. of codons in cdna seq = 214 att att prev t start t-a end a-t --- -tt frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gga (G) cag (Q) cct (P) att (I) att (I) ttt (F) gcc (A) aat (N) atc (I) gga (G) cag (Q) cct (P) ttt (F) ttg (L) cca (P) ata (I) original frameshift length = 12 frameshift length = 12 frameshifted sequence: ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 12 147 I 158 * 12 kidney VHL 1 c.440_441delTT p.F148fs*25 length of cdnaseq = 642 length of protseq = 213 440 441 TT 2 147 2 147 3 tt Total no. of codons in cdna seq = 214 att att start a-t post t end t-t a-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 214 last codon in array is a gga (G) cag (Q) cct (P) att (I) att (I) ttt (F) gcc (A) aat (N) atc (I) gga (G) cag (Q) cct (P) att (I) tgc (C) caa (Q) tat (Y) original frameshift length = 26 frameshift length = 26 frameshifted sequence: att (I) tgc (C) caa (Q) tat (Y) cac (H) act (T) gcc (A) agt (S) gta (V) tac (Y) tct (S) gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: att (I) att (I) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 25 148 F 172 * 25 kidney VHL 1 c.440_443delTTTT p.I147fs*11 length of cdnaseq = 642 length of protseq = 213 440 443 TTTT 4 147 2 148 2 tttt Total no. of codons in cdna seq = 214 att ttt start a-t end t-t a-- --t frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga gga (G) cag (Q) cct (P) att (I) ttt (F) gcc (A) aat (N) atc (I) aca (T) gga (G) cag (Q) cct (P) atg (M) cca (P) ata (I) tca (S) original frameshift length = 11 frameshift length = 11 frameshifted sequence: atg (M) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: att (I) ttt (F) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 11 147 I 157 * 11 kidney VHL 1 c.440_446delTTTTTGC p.I147fs*10 length of cdnaseq = 642 length of protseq = 213 440 446 TTTTTGC 7 147 2 149 2 tttttgc Total no. of codons in cdna seq = 214 att gcc start a-t end c-c a-- --c frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga gga (G) cag (Q) cct (P) att (I) gcc (A) aat (N) atc (I) aca (T) ctg (L) gga (G) cag (Q) cct (P) aca (T) ata (I) tca (S) cac (H) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aca (T) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: att (I) ttt (F) gcc (A) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : att (I) final frameshift length = 10 147 I 156 * 10 kidney VHL 1 c.444_445delTG p.A149fs*24 length of cdnaseq = 642 length of protseq = 213 444 445 TG 2 148 3 149 1 tg Total no. of codons in cdna seq = 214 ttt gcc start t-t end g-c tt- -cc frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 214 last codon in array is a cag (Q) cct (P) att (I) ttt (F) gcc (A) aat (N) atc (I) aca (T) ctg (L) cag (Q) cct (P) att (I) ttc (F) caa (Q) tat (Y) cac (H) original frameshift length = 25 frameshift length = 25 frameshifted sequence: ttc (F) caa (Q) tat (Y) cac (H) act (T) gcc (A) agt (S) gta (V) tac (Y) tct (S) gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: ttt (F) gcc (A) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ttt (F) ttc (F) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 24 149 A 172 * 24 kidney VHL 1 c.444_450delTGCCAAT p.F148fs*9 length of cdnaseq = 642 length of protseq = 213 444 450 TGCCAAT 7 148 3 150 3 tgccaat Total no. of codons in cdna seq = 214 ttt aat start t-t post a end t-a tt- --- frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga cag (Q) cct (P) att (I) ttt (F) aat (N) atc (I) aca (T) ctg (L) cca (P) cag (Q) cct (P) att (I) tta (L) tca (S) cac (H) tgc (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: tta (L) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ttt (F) gcc (A) aat (N) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 9 148 F 156 * 9 kidney VHL 1 c.446_446delC p.N150fs*9 length of cdnaseq = 642 length of protseq = 213 446 446 C 1 149 2 149 2 c Total no. of codons in cdna seq = 214 gcc gcc start g-c end c-c g-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cct (P) att (I) ttt (F) gcc (A) gcc (A) aat (N) atc (I) aca (T) ctg (L) cct (P) att (I) ttt (F) gca (A) ata (I) tca (S) cac (H) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gca (A) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 9 150 N 158 * 9 kidney VHL 1 c.446_452delCCAATAT p.N150fs*7 length of cdnaseq = 642 length of protseq = 213 446 452 CCAATAT 7 149 2 151 2 ccaatat Total no. of codons in cdna seq = 214 gcc atc start g-c end t-c g-- --c frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga cct (P) att (I) ttt (F) gcc (A) atc (I) aca (T) ctg (L) cca (P) gtg (V) cct (P) att (I) ttt (F) gca (A) cac (H) tgc (C) cag (Q) original frameshift length = 8 frameshift length = 8 frameshifted sequence: gca (A) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gcc (A) aat (N) atc (I) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: gcc (A) gca (A) first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 7 150 N 156 * 7 kidney VHL 1 c.450delT p.N150fs*9 length of cdnaseq = 642 length of protseq = 213 450 450 T 1 150 3 150 3 t Total no. of codons in cdna seq = 214 aat aat start a-t post a end t-a aa- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga att (I) ttt (F) gcc (A) aat (N) aat (N) atc (I) aca (T) ctg (L) cca (P) att (I) ttt (F) gcc (A) aaa (K) tca (S) cac (H) tgc (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: aaa (K) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 9 150 N 158 * 9 kidney VHL 1 c.452delT p.I151fs*8 length of cdnaseq = 642 length of protseq = 213 452 452 T 1 151 2 151 2 t Total no. of codons in cdna seq = 214 atc atc start a-t end t-c a-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ttt (F) gcc (A) aat (N) atc (I) atc (I) aca (T) ctg (L) cca (P) gtg (V) ttt (F) gcc (A) aat (N) aca (T) cac (H) tgc (C) cag (Q) original frameshift length = 8 frameshift length = 8 frameshifted sequence: aca (T) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 8 151 I 158 * 8 kidney VHL 1 c.454_454delA p.T152fs*7 length of cdnaseq = 642 length of protseq = 213 454 454 A 1 152 1 152 1 a Total no. of codons in cdna seq = 214 aca aca prev c start c-a end a-c --- -ca frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gcc (A) aat (N) atc (I) aca (T) aca (T) ctg (L) cca (P) gtg (V) tat (Y) gcc (A) aat (N) atc (I) cac (H) tgc (C) cag (Q) tgt (C) original frameshift length = 7 frameshift length = 7 frameshifted sequence: cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 7 152 T 158 * 7 kidney VHL 1 c.457_463delCTGCCAG p.L153fs*4 length of cdnaseq = 642 length of protseq = 213 457 463 CTGCCAG 7 153 1 155 1 ctgccag Total no. of codons in cdna seq = 214 ctg gtg prev a start a-c end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga aat (N) atc (I) aca (T) ctg (L) gtg (V) tat (Y) act (T) ctg (L) aaa (K) aat (N) atc (I) aca (T) tgt (C) ata (I) ctc (L) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ctg (L) cca (P) gtg (V) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 4 153 L 156 * 4 kidney VHL 1 c.461_461delC p.P154fs*5 length of cdnaseq = 642 length of protseq = 213 461 461 C 1 154 2 154 2 c Total no. of codons in cdna seq = 214 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga atc (I) aca (T) ctg (L) cca (P) cca (P) gtg (V) tat (Y) act (T) ctg (L) atc (I) aca (T) ctg (L) cag (Q) tgt (C) ata (I) ctc (L) original frameshift length = 5 frameshift length = 5 frameshifted sequence: cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 5 154 P 158 * 5 kidney VHL 1 c.466_467delTA p.T157fs*16 length of cdnaseq = 642 length of protseq = 213 466 467 TA 2 156 1 156 2 ta Total no. of codons in cdna seq = 214 tat tat prev g start g-t end a-t --- --t frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 214 last codon in array is a ctg (L) cca (P) gtg (V) tat (Y) tat (Y) act (T) ctg (L) aaa (K) gag (E) ctg (L) cca (P) gtg (V) tac (Y) tct (S) gaa (E) aga (R) original frameshift length = 17 frameshift length = 17 frameshifted sequence: tac (Y) tct (S) gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: tat (Y) tac (Y) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 16 157 T 172 * 16 kidney VHL 1 c.468_469delTA p.T157fs*16 length of cdnaseq = 642 length of protseq = 213 468 469 TA 2 156 3 157 1 ta Total no. of codons in cdna seq = 214 tat act start a-t end a-c ta- -ct frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 214 last codon in array is a ctg (L) cca (P) gtg (V) tat (Y) act (T) ctg (L) aaa (K) gag (E) cga (R) ctg (L) cca (P) gtg (V) tac (Y) tct (S) gaa (E) aga (R) original frameshift length = 17 frameshift length = 17 frameshifted sequence: tac (Y) tct (S) gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: tat (Y) act (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tat (Y) tac (Y) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 16 157 T 172 * 16 kidney VHL 1 c.472_472delC p.L158fs*1 length of cdnaseq = 642 length of protseq = 213 472 472 C 1 158 1 158 1 c Total no. of codons in cdna seq = 214 ctg ctg prev t start t-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gtg (V) tat (Y) act (T) ctg (L) ctg (L) aaa (K) gag (E) cga (R) tgc (C) gtg (V) tat (Y) act (T) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 1 158 L 158 * 1 kidney VHL 1 c.472_473delCT p.L158fs*15 length of cdnaseq = 642 length of protseq = 213 472 473 CT 2 158 1 158 2 ct Total no. of codons in cdna seq = 214 ctg ctg prev t start t-c end t-g --- --g frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 214 last codon in array is a gtg (V) tat (Y) act (T) ctg (L) ctg (L) aaa (K) gag (E) cga (R) tgc (C) gtg (V) tat (Y) act (T) gaa (E) aga (R) gcg (A) atg (M) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 15 158 L 172 * 15 kidney VHL 1 c.472_490del19 p.L158fs*6 length of cdnaseq = 642 length of protseq = 213 472 490 19 19 158 1 164 1 ctgaaagagcgatgcctcc Total no. of codons in cdna seq = 214 ctg cag prev t start t-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 623 ter codon is tag at posn 163 Protein length after deletion = 162 Total no. of codons in del cdnaseq = 208 last codon in array is ga gtg (V) tat (Y) act (T) ctg (L) cag (Q) gtt (V) gtc (V) cgg (R) agc (S) gtg (V) tat (Y) act (T) agg (R) ttg (L) tcc (S) gga (G) original frameshift length = 6 frameshift length = 6 frameshifted sequence: agg (R) ttg (L) tcc (S) gga (G) gcc (A) tag (TER) wild type sequence in deletion region: ctg (L) aaa (K) gag (E) cga (R) tgc (C) ctc (L) cag (Q) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 6 158 L 163 * 6 kidney VHL 1 c.477_477delA p.E160fs*10 length of cdnaseq = 642 length of protseq = 213 477 477 A 1 159 3 159 3 a Total no. of codons in cdna seq = 214 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tag at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 214 last codon in array is ga tat (Y) act (T) ctg (L) aaa (K) aaa (K) gag (E) cga (R) tgc (C) ctc (L) tat (Y) act (T) ctg (L) aag (K) agc (S) gat (D) gcc (A) original frameshift length = 11 frameshift length = 11 frameshifted sequence: aag (K) agc (S) gat (D) gcc (A) tcc (S) agg (R) ttg (L) tcc (S) gga (G) gcc (A) tag (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 10 160 E 169 * 10 kidney VHL 1 c.480_483delGCGA p.E160fs*9 length of cdnaseq = 642 length of protseq = 213 480 483 GCGA 4 160 3 161 3 gcga Total no. of codons in cdna seq = 214 gag cga start a-g post t end a-t ga- --- frameshift deletion length of cdnaseq after deletion = 638 ter codon is tag at posn 168 Protein length after deletion = 167 Total no. of codons in del cdnaseq = 213 last codon in array is ga act (T) ctg (L) aaa (K) gag (E) cga (R) tgc (C) ctc (L) cag (Q) gtt (V) act (T) ctg (L) aaa (K) gat (D) gcc (A) tcc (S) agg (R) original frameshift length = 9 frameshift length = 9 frameshifted sequence: gat (D) gcc (A) tcc (S) agg (R) ttg (L) tcc (S) gga (G) gcc (A) tag (TER) wild type sequence in deletion region: gag (E) cga (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 9 160 E 168 * 9 kidney VHL 1 c.480delG p.E160fs*10 length of cdnaseq = 642 length of protseq = 213 480 480 G 1 160 3 160 3 g Total no. of codons in cdna seq = 214 gag gag start a-g post c end g-c ga- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tag at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 214 last codon in array is ga act (T) ctg (L) aaa (K) gag (E) gag (E) cga (R) tgc (C) ctc (L) cag (Q) act (T) ctg (L) aaa (K) gac (D) gat (D) gcc (A) tcc (S) original frameshift length = 10 frameshift length = 10 frameshifted sequence: gac (D) gat (D) gcc (A) tcc (S) agg (R) ttg (L) tcc (S) gga (G) gcc (A) tag (TER) wild type sequence in deletion region: gag (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 10 160 E 169 * 10 kidney VHL 1 c.482_483delGA p.R161fs*12 length of cdnaseq = 642 length of protseq = 213 482 483 GA 2 161 2 161 3 ga Total no. of codons in cdna seq = 214 cga cga start c-g post t end a-t c-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 214 last codon in array is a ctg (L) aaa (K) gag (E) cga (R) cga (R) tgc (C) ctc (L) cag (Q) gtt (V) ctg (L) aaa (K) gag (E) ctg (L) cct (P) cca (P) ggt (G) original frameshift length = 12 frameshift length = 12 frameshifted sequence: ctg (L) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: cga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 12 161 R 172 * 12 kidney VHL 1 c.487delC p.L163fs*7 length of cdnaseq = 642 length of protseq = 213 487 487 C 1 163 1 163 1 c Total no. of codons in cdna seq = 214 ctc ctc prev c start c-c end c-t --- -tc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tag at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 214 last codon in array is ga gag (E) cga (R) tgc (C) ctc (L) ctc (L) cag (Q) gtt (V) gtc (V) cgg (R) gag (E) cga (R) tgc (C) tcc (S) agg (R) ttg (L) tcc (S) original frameshift length = 7 frameshift length = 7 frameshifted sequence: tcc (S) agg (R) ttg (L) tcc (S) gga (G) gcc (A) tag (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 7 163 L 169 * 7 kidney VHL 1 c.491_492delAG p.Q164fs*9 length of cdnaseq = 642 length of protseq = 213 491 492 AG 2 164 2 164 3 ag Total no. of codons in cdna seq = 214 cag cag start c-a post g end g-g c-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 214 last codon in array is a cga (R) tgc (C) ctc (L) cag (Q) cag (Q) gtt (V) gtc (V) cgg (R) agc (S) cga (R) tgc (C) ctc (L) cgt (R) tgt (C) ccg (P) gag (E) original frameshift length = 9 frameshift length = 9 frameshifted sequence: cgt (R) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 9 164 Q 172 * 9 kidney VHL 1 c.492_492delG p.V165fs*5 length of cdnaseq = 642 length of protseq = 213 492 492 G 1 164 3 164 3 g Total no. of codons in cdna seq = 214 cag cag start a-g post g end g-g ca- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tag at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 214 last codon in array is ga cga (R) tgc (C) ctc (L) cag (Q) cag (Q) gtt (V) gtc (V) cgg (R) agc (S) cga (R) tgc (C) ctc (L) cag (Q) ttg (L) tcc (S) gga (G) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cag (Q) ttg (L) tcc (S) gga (G) gcc (A) tag (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cag (Q) cag (Q) first wt aa affected by frameshift deletion is : gtt (V) final frameshift length = 5 165 V 169 * 5 kidney VHL 1 c.497_501delTCCGG p.V166fs*6 length of cdnaseq = 642 length of protseq = 213 497 501 TCCGG 5 166 2 167 3 tccgg Total no. of codons in cdna seq = 214 gtc cgg start g-t post a end g-a g-- --- frameshift deletion length of cdnaseq after deletion = 637 ter codon is tga at posn 171 Protein length after deletion = 170 Total no. of codons in del cdnaseq = 213 last codon in array is a ctc (L) cag (Q) gtt (V) gtc (V) cgg (R) agc (S) cta (L) gtc (V) aag (K) ctc (L) cag (Q) gtt (V) gag (E) cct (P) agt (S) caa (Q) original frameshift length = 6 frameshift length = 6 frameshifted sequence: gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: gtc (V) cgg (R) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 6 166 V 171 * 6 kidney VHL 1 c.500_500delG p.S168fs*2 length of cdnaseq = 642 length of protseq = 213 500 500 G 1 167 2 167 2 g Total no. of codons in cdna seq = 214 cgg cgg start c-g end g-g c-- --g frameshift deletion length of cdnaseq after deletion = 641 ter codon is tag at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 214 last codon in array is ga cag (Q) gtt (V) gtc (V) cgg (R) cgg (R) agc (S) cta (L) gtc (V) aag (K) cag (Q) gtt (V) gtc (V) cga (R) gcc (A) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cga (R) gcc (A) tag (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgg (R) cga (R) first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 2 168 S 169 * 2 kidney VHL 1 c.500_501delGG p.R167fs*6 length of cdnaseq = 642 length of protseq = 213 500 501 GG 2 167 2 167 3 gg Total no. of codons in cdna seq = 214 cgg cgg start c-g post a end g-a c-- --- frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 172 Protein length after deletion = 171 Total no. of codons in del cdnaseq = 214 last codon in array is a cag (Q) gtt (V) gtc (V) cgg (R) cgg (R) agc (S) cta (L) gtc (V) aag (K) cag (Q) gtt (V) gtc (V) cag (Q) cct (P) agt (S) caa (Q) original frameshift length = 6 frameshift length = 6 frameshifted sequence: cag (Q) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 6 167 R 172 * 6 kidney VHL 1 c.502_511del10 p.V170fs*31 length of cdnaseq = 642 length of protseq = 213 502 511 10 10 168 1 171 1 agcctagtca Total no. of codons in cdna seq = 214 agc aag prev g start g-a end a-a --- -ag frameshift deletion length of cdnaseq after deletion = 632 ter codon is tga at posn 198 Protein length after deletion = 197 Total no. of codons in del cdnaseq = 211 last codon in array is ga gtt (V) gtc (V) cgg (R) agc (S) aag (K) cct (P) gag (E) aat (N) tac (Y) gtt (V) gtc (V) cgg (R) agc (S) ctg (L) aga (R) att (I) original frameshift length = 31 frameshift length = 31 frameshifted sequence: agc (S) ctg (L) aga (R) att (I) aca (T) gga (G) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: agc (S) cta (L) gtc (V) aag (K) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: agc (S) agc (S) matching aa in delstart region of wt and deletion mutant: cta (L) ctg (L) first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 29 170 V 200 * 31 kidney VHL 1 c.503_503delG p.S168fs*2 length of cdnaseq = 642 length of protseq = 213 503 503 G 1 168 2 168 2 g Total no. of codons in cdna seq = 214 agc agc start a-g end g-c a-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tag at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 214 last codon in array is ga gtt (V) gtc (V) cgg (R) agc (S) agc (S) cta (L) gtc (V) aag (K) cct (P) gtt (V) gtc (V) cgg (R) acc (T) tag (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: acc (T) tag (TER) wild type sequence in deletion region: agc (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 2 168 S 169 * 2 kidney VHL 1 c.504_511delCCTAGTCA p.S168fs*3 length of cdnaseq = 642 length of protseq = 213 504 511 CCTAGTCA 8 168 3 171 1 cctagtca Total no. of codons in cdna seq = 214 agc aag start g-c end a-a ag- -ag frameshift deletion length of cdnaseq after deletion = 634 ter codon is tga at posn 170 Protein length after deletion = 169 Total no. of codons in del cdnaseq = 212 last codon in array is a gtt (V) gtc (V) cgg (R) agc (S) aag (K) cct (P) gag (E) aat (N) tac (Y) gtt (V) gtc (V) cgg (R) aga (R) gcc (A) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: aga (R) gcc (A) tga (TER) wild type sequence in deletion region: agc (S) cta (L) gtc (V) aag (K) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 3 168 S 170 * 3 kidney VHL 1 c.506_506delT p.L169fs*33 length of cdnaseq = 642 length of protseq = 213 506 506 T 1 169 2 169 2 t Total no. of codons in cdna seq = 214 cta cta start c-t end t-a c-- --a frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga gtc (V) cgg (R) agc (S) cta (L) cta (L) gtc (V) aag (K) cct (P) gag (E) gtc (V) cgg (R) agc (S) cag (Q) tca (S) agc (S) ctg (L) original frameshift length = 33 frameshift length = 33 frameshifted sequence: cag (Q) tca (S) agc (S) ctg (L) aga (R) att (I) aca (T) gga (G) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: cta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cta (L) final frameshift length = 33 169 L 201 * 33 kidney VHL 1 c.507delA p.V170fs*32 length of cdnaseq = 642 length of protseq = 213 507 507 A 1 169 3 169 3 a Total no. of codons in cdna seq = 214 cta cta start t-a post g end a-g ct- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga gtc (V) cgg (R) agc (S) cta (L) cta (L) gtc (V) aag (K) cct (P) gag (E) gtc (V) cgg (R) agc (S) ctg (L) tca (S) agc (S) ctg (L) original frameshift length = 33 frameshift length = 33 frameshifted sequence: ctg (L) tca (S) agc (S) ctg (L) aga (R) att (I) aca (T) gga (G) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: cta (L) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cta (L) ctg (L) first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 32 170 V 201 * 32 kidney VHL 1 c.509delT p.V170fs*32 length of cdnaseq = 642 length of protseq = 213 509 509 T 1 170 2 170 2 t Total no. of codons in cdna seq = 214 gtc gtc start g-t end t-c g-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga cgg (R) agc (S) cta (L) gtc (V) gtc (V) aag (K) cct (P) gag (E) aat (N) cgg (R) agc (S) cta (L) gca (A) agc (S) ctg (L) aga (R) original frameshift length = 32 frameshift length = 32 frameshifted sequence: gca (A) agc (S) ctg (L) aga (R) att (I) aca (T) gga (G) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: gtc (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 32 170 V 201 * 32 kidney VHL 1 c.512_516delAGCCT p.K171fs*43 length of cdnaseq = 642 length of protseq = 213 512 516 AGCCT 5 171 2 172 3 agcct Total no. of codons in cdna seq = 214 aag cct start a-a post g end t-g a-- --- frameshift deletion length of cdnaseq after deletion = 637 Total no. of codons in del cdnaseq = 213 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 212 agc (S) cta (L) gtc (V) aag (K) cct (P) gag (E) aat (N) tac (Y) agg (R) agc (S) cta (L) gtc (V) aga (R) gaa (E) tta (L) cag (Q) original frameshift length = 43 frameshift length = 42 frameshifted sequence: aga (R) gaa (E) tta (L) cag (Q) gag (E) act (T) gga (G) cat (H) cgt (R) cag (Q) gtc (V) gct (A) cta (L) cga (R) aga (R) tct (S) gga (G) aga (R) cca (P) ccc (P) aaa (K) tgt (C) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: aag (K) cct (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aag (K) final frameshift length = 42 171 K 213 * 43 kidney VHL 1 c.514_527del14 p.P172fs*39 length of cdnaseq = 642 length of protseq = 213 514 527 14 14 172 1 176 2 cctgagaattacag Total no. of codons in cdna seq = 214 cct agg prev g start g-c end g-g --- --g frameshift deletion length of cdnaseq after deletion = 628 Total no. of codons in del cdnaseq = 210 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 209 cta (L) gtc (V) aag (K) cct (P) agg (R) aga (R) ctg (L) gac (D) atc (I) cta (L) gtc (V) aag (K) gag (E) act (T) gga (G) cat (H) original frameshift length = 39 frameshift length = 38 frameshifted sequence: gag (E) act (T) gga (G) cat (H) cgt (R) cag (Q) gtc (V) gct (A) cta (L) cga (R) aga (R) tct (S) gga (G) aga (R) cca (P) ccc (P) aaa (K) tgt (C) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: cct (P) gag (E) aat (N) tac (Y) agg (R) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 38 172 P 210 * 39 kidney VHL 1 c.516_525del10 p.E173fs*26 length of cdnaseq = 642 length of protseq = 213 516 525 10 10 172 3 175 3 tgagaattac Total no. of codons in cdna seq = 214 cct tac start c-t post a end c-a cc- --- frameshift deletion length of cdnaseq after deletion = 632 ter codon is tga at posn 198 Protein length after deletion = 197 Total no. of codons in del cdnaseq = 211 last codon in array is ga cta (L) gtc (V) aag (K) cct (P) tac (Y) agg (R) aga (R) ctg (L) gac (D) cta (L) gtc (V) aag (K) cca (P) gga (G) gac (D) tgg (W) original frameshift length = 27 frameshift length = 27 frameshifted sequence: cca (P) gga (G) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: cct (P) gag (E) aat (N) tac (Y) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: cct (P) cca (P) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 26 173 E 198 * 26 kidney VHL 1 c.525_529delCAGGA p.Y175fs*1 length of cdnaseq = 642 length of protseq = 213 525 529 CAGGA 5 175 3 177 1 cagga Total no. of codons in cdna seq = 214 tac aga start a-c end a-g ta- -ga frameshift deletion length of cdnaseq after deletion = 637 ter codon is tag at posn 175 Protein length after deletion = 174 Total no. of codons in del cdnaseq = 213 last codon in array is a cct (P) gag (E) aat (N) tac (Y) aga (R) ctg (L) gac (D) atc (I) gtc (V) cct (P) gag (E) aat (N) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: tac (Y) agg (R) aga (R) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 1 175 Y 175 * 1 kidney VHL 1 c.525_532delCAGGAGAC p.R176fs*36 length of cdnaseq = 642 length of protseq = 213 525 532 CAGGAGAC 8 175 3 178 1 caggagac Total no. of codons in cdna seq = 214 tac ctg start a-c end c-t ta- -tg frameshift deletion length of cdnaseq after deletion = 634 Total no. of codons in del cdnaseq = 212 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 211 cct (P) gag (E) aat (N) tac (Y) ctg (L) gac (D) atc (I) gtc (V) agg (R) cct (P) gag (E) aat (N) tat (Y) gga (G) cat (H) cgt (R) original frameshift length = 38 frameshift length = 37 frameshifted sequence: tat (Y) gga (G) cat (H) cgt (R) cag (Q) gtc (V) gct (A) cta (L) cga (R) aga (R) tct (S) gga (G) aga (R) cca (P) ccc (P) aaa (K) tgt (C) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: tac (Y) agg (R) aga (R) ctg (L) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: tac (Y) tat (Y) first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 36 176 R 211 * 36 kidney VHL 1 c.526_532delAGGAGAC p.R176fs*24 length of cdnaseq = 642 length of protseq = 213 526 532 AGGAGAC 7 176 1 178 1 aggagac Total no. of codons in cdna seq = 214 agg ctg prev c start c-a end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 199 Protein length after deletion = 198 Total no. of codons in del cdnaseq = 212 last codon in array is ga gag (E) aat (N) tac (Y) agg (R) ctg (L) gac (D) atc (I) gtc (V) agg (R) gag (E) aat (N) tac (Y) tgg (W) aca (T) tcg (S) tca (S) original frameshift length = 24 frameshift length = 24 frameshifted sequence: tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: agg (R) aga (R) ctg (L) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 24 176 R 199 * 24 kidney VHL 1 c.528_528delG p.R177fs*25 length of cdnaseq = 642 length of protseq = 213 528 528 G 1 176 3 176 3 g Total no. of codons in cdna seq = 214 agg agg start g-g post a end g-a ag- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga gag (E) aat (N) tac (Y) agg (R) agg (R) aga (R) ctg (L) gac (D) atc (I) gag (E) aat (N) tac (Y) aga (R) gac (D) tgg (W) aca (T) original frameshift length = 26 frameshift length = 26 frameshifted sequence: aga (R) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agg (R) aga (R) first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 25 177 R 201 * 25 kidney VHL 1 c.529delA p.R177fs*25 length of cdnaseq = 642 length of protseq = 213 529 529 A 1 177 1 177 1 a Total no. of codons in cdna seq = 214 aga aga prev g start g-a end a-g --- -ga frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga aat (N) tac (Y) agg (R) aga (R) aga (R) ctg (L) gac (D) atc (I) gtc (V) aat (N) tac (Y) agg (R) gac (D) tgg (W) aca (T) tcg (S) original frameshift length = 25 frameshift length = 25 frameshifted sequence: gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: aga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aga (R) final frameshift length = 25 177 R 201 * 25 kidney VHL 1 c.532_532delC p.L178fs*24 length of cdnaseq = 642 length of protseq = 213 532 532 C 1 178 1 178 1 c Total no. of codons in cdna seq = 214 ctg ctg prev a start a-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga tac (Y) agg (R) aga (R) ctg (L) ctg (L) gac (D) atc (I) gtc (V) agg (R) tac (Y) agg (R) aga (R) tgg (W) aca (T) tcg (S) tca (S) original frameshift length = 24 frameshift length = 24 frameshifted sequence: tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 24 178 L 201 * 24 kidney VHL 1 c.533_534delTG p.L178fs*36 length of cdnaseq = 642 length of protseq = 213 533 534 TG 2 178 2 178 3 tg Total no. of codons in cdna seq = 214 ctg ctg start c-t post g end g-g c-- --- frameshift deletion length of cdnaseq after deletion = 640 Total no. of codons in del cdnaseq = 214 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 213 tac (Y) agg (R) aga (R) ctg (L) ctg (L) gac (D) atc (I) gtc (V) agg (R) tac (Y) agg (R) aga (R) cga (R) cat (H) cgt (R) cag (Q) original frameshift length = 37 frameshift length = 36 frameshifted sequence: cga (R) cat (H) cgt (R) cag (Q) gtc (V) gct (A) cta (L) cga (R) aga (R) tct (S) gga (G) aga (R) cca (P) ccc (P) aaa (K) tgt (C) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 36 178 L 213 * 36 kidney VHL 1 c.536_536delA p.D179fs*23 length of cdnaseq = 642 length of protseq = 213 536 536 A 1 179 2 179 2 a Total no. of codons in cdna seq = 214 gac gac start g-a end a-c g-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga agg (R) aga (R) ctg (L) gac (D) gac (D) atc (I) gtc (V) agg (R) tcg (S) agg (R) aga (R) ctg (L) gca (A) tcg (S) tca (S) ggt (G) original frameshift length = 23 frameshift length = 23 frameshifted sequence: gca (A) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 23 179 D 201 * 23 kidney VHL 1 c.544_545delAG p.R182fs*32 length of cdnaseq = 642 length of protseq = 213 544 545 AG 2 182 1 182 2 ag Total no. of codons in cdna seq = 214 agg agg prev c start c-a end g-g --- --g frameshift deletion length of cdnaseq after deletion = 640 Total no. of codons in del cdnaseq = 214 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 213 gac (D) atc (I) gtc (V) agg (R) agg (R) tcg (S) ctc (L) tac (Y) gaa (E) gac (D) atc (I) gtc (V) gtc (V) gct (A) cta (L) cga (R) original frameshift length = 33 frameshift length = 32 frameshifted sequence: gtc (V) gct (A) cta (L) cga (R) aga (R) tct (S) gga (G) aga (R) cca (P) ccc (P) aaa (K) tgt (C) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : agg (R) final frameshift length = 32 182 R 213 * 32 kidney VHL 1 c.547delT p.S183fs*19 length of cdnaseq = 642 length of protseq = 213 547 547 T 1 183 1 183 1 t Total no. of codons in cdna seq = 214 tcg tcg prev g start g-t end t-c --- -cg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga atc (I) gtc (V) agg (R) tcg (S) tcg (S) ctc (L) tac (Y) gaa (E) gat (D) atc (I) gtc (V) agg (R) cgc (R) tct (S) acg (T) aag (K) original frameshift length = 19 frameshift length = 19 frameshifted sequence: cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: tcg (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tcg (S) final frameshift length = 19 183 S 201 * 19 kidney VHL 1 c.552_553delCT p.Y185fs*29 length of cdnaseq = 642 length of protseq = 213 552 553 CT 2 184 3 185 1 ct Total no. of codons in cdna seq = 214 ctc tac start t-c end t-a ct- -ac frameshift deletion length of cdnaseq after deletion = 640 Total no. of codons in del cdnaseq = 214 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 213 gtc (V) agg (R) tcg (S) ctc (L) tac (Y) gaa (E) gat (D) ctg (L) gaa (E) gtc (V) agg (R) tcg (S) cta (L) cga (R) aga (R) tct (S) original frameshift length = 31 frameshift length = 30 frameshifted sequence: cta (L) cga (R) aga (R) tct (S) gga (G) aga (R) cca (P) ccc (P) aaa (K) tgt (C) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: ctc (L) tac (Y) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctc (L) cta (L) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 29 185 Y 213 * 29 kidney VHL 1 c.553delT p.Y185fs*17 length of cdnaseq = 642 length of protseq = 213 553 553 T 1 185 1 185 1 t Total no. of codons in cdna seq = 214 tac tac prev c start c-t end t-a --- -ac frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga agg (R) tcg (S) ctc (L) tac (Y) tac (Y) gaa (E) gat (D) ctg (L) gaa (E) agg (R) tcg (S) ctc (L) acg (T) aag (K) atc (I) tgg (W) original frameshift length = 17 frameshift length = 17 frameshifted sequence: acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 17 185 Y 201 * 17 kidney VHL 1 c.554_572delACGAAGATCTGGAAGACCA p.Y185fs*11 length of cdnaseq = 642 length of protseq = 213 554 572 ACGAAGATCTGGAAGACCA 19 185 2 191 2 acgaagatctggaagacca Total no. of codons in cdna seq = 214 tac cac start t-a end a-c t-- --c frameshift deletion length of cdnaseq after deletion = 623 ter codon is tga at posn 195 Protein length after deletion = 194 Total no. of codons in del cdnaseq = 208 last codon in array is ga agg (R) tcg (S) ctc (L) tac (Y) cac (H) cca (P) aat (N) gtg (V) cag (Q) agg (R) tcg (S) ctc (L) tcc (S) caa (Q) atg (M) tgc (C) original frameshift length = 11 frameshift length = 11 frameshifted sequence: tcc (S) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: tac (Y) gaa (E) gat (D) ctg (L) gaa (E) gac (D) cac (H) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 11 185 Y 195 * 11 kidney VHL 1 c.556_562delGAAGATC p.E186fs*14 length of cdnaseq = 642 length of protseq = 213 556 562 GAAGATC 7 186 1 188 1 gaagatc Total no. of codons in cdna seq = 214 gaa ctg prev c start c-g end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 199 Protein length after deletion = 198 Total no. of codons in del cdnaseq = 212 last codon in array is ga tcg (S) ctc (L) tac (Y) gaa (E) ctg (L) gaa (E) gac (D) cac (H) cca (P) tcg (S) ctc (L) tac (Y) tgg (W) aag (K) acc (T) acc (T) original frameshift length = 14 frameshift length = 14 frameshifted sequence: tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: gaa (E) gat (D) ctg (L) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 14 186 E 199 * 14 kidney VHL 1 c.557_561delAAGAT p.E186fs*27 length of cdnaseq = 642 length of protseq = 213 557 561 AAGAT 5 186 2 187 3 aagat Total no. of codons in cdna seq = 214 gaa gat start g-a post c end t-c g-- --- frameshift deletion length of cdnaseq after deletion = 637 Total no. of codons in del cdnaseq = 213 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 212 tcg (S) ctc (L) tac (Y) gaa (E) gat (D) ctg (L) gaa (E) gac (D) cac (H) tcg (S) ctc (L) tac (Y) gct (A) gga (G) aga (R) cca (P) original frameshift length = 28 frameshift length = 27 frameshifted sequence: gct (A) gga (G) aga (R) cca (P) ccc (P) aaa (K) tgt (C) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: gaa (E) gat (D) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 27 186 E 212 * 27 kidney VHL 1 c.561_564delTCTG p.D187fs*14 length of cdnaseq = 642 length of protseq = 213 561 564 TCTG 4 187 3 188 3 tctg Total no. of codons in cdna seq = 214 gat ctg start a-t post g end g-g ga- --- frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 200 Protein length after deletion = 199 Total no. of codons in del cdnaseq = 213 last codon in array is ga ctc (L) tac (Y) gaa (E) gat (D) ctg (L) gaa (E) gac (D) cac (H) cca (P) ctc (L) tac (Y) gaa (E) gag (E) aag (K) acc (T) acc (T) original frameshift length = 14 frameshift length = 14 frameshifted sequence: gag (E) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: gat (D) ctg (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 14 187 D 200 * 14 kidney VHL 1 c.562delC p.L188fs*14 length of cdnaseq = 642 length of protseq = 213 562 562 C 1 188 1 188 1 c Total no. of codons in cdna seq = 214 ctg ctg prev t start t-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga tac (Y) gaa (E) gat (D) ctg (L) ctg (L) gaa (E) gac (D) cac (H) cca (P) tac (Y) gaa (E) gat (D) tgg (W) aag (K) acc (T) acc (T) original frameshift length = 14 frameshift length = 14 frameshifted sequence: tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 14 188 L 201 * 14 kidney VHL 1 c.563delT p.L188fs*14 length of cdnaseq = 642 length of protseq = 213 563 563 T 1 188 2 188 2 t Total no. of codons in cdna seq = 214 ctg ctg start c-t end t-g c-- --g frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga tac (Y) gaa (E) gat (D) ctg (L) ctg (L) gaa (E) gac (D) cac (H) cca (P) tac (Y) gaa (E) gat (D) cgg (R) aag (K) acc (T) acc (T) original frameshift length = 14 frameshift length = 14 frameshifted sequence: cgg (R) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 14 188 L 201 * 14 kidney VHL 1 c.564_565delGG p.E189fs*25 length of cdnaseq = 642 length of protseq = 213 564 565 GG 2 188 3 189 1 gg Total no. of codons in cdna seq = 214 ctg gaa start t-g end g-a ct- -aa frameshift deletion length of cdnaseq after deletion = 640 Total no. of codons in del cdnaseq = 214 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 213 tac (Y) gaa (E) gat (D) ctg (L) gaa (E) gac (D) cac (H) cca (P) aat (N) tac (Y) gaa (E) gat (D) cta (L) aga (R) cca (P) ccc (P) original frameshift length = 27 frameshift length = 26 frameshifted sequence: cta (L) aga (R) cca (P) ccc (P) aaa (K) tgt (C) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: ctg (L) gaa (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ctg (L) cta (L) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 25 189 E 213 * 25 kidney VHL 1 c.565_568delGAAG p.E189fs*12 length of cdnaseq = 642 length of protseq = 213 565 568 GAAG 4 189 1 190 1 gaag Total no. of codons in cdna seq = 214 gaa gac prev g start g-g end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 200 Protein length after deletion = 199 Total no. of codons in del cdnaseq = 213 last codon in array is ga gaa (E) gat (D) ctg (L) gaa (E) gac (D) cac (H) cca (P) aat (N) gtg (V) gaa (E) gat (D) ctg (L) acc (T) acc (T) caa (Q) atg (M) original frameshift length = 12 frameshift length = 12 frameshifted sequence: acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: gaa (E) gac (D) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 12 189 E 200 * 12 kidney VHL 1 c.565delG p.E189fs*13 length of cdnaseq = 642 length of protseq = 213 565 565 G 1 189 1 189 1 g Total no. of codons in cdna seq = 214 gaa gaa prev g start g-g end g-a --- -aa frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga gaa (E) gat (D) ctg (L) gaa (E) gaa (E) gac (D) cac (H) cca (P) aat (N) gaa (E) gat (D) ctg (L) aag (K) acc (T) acc (T) caa (Q) original frameshift length = 13 frameshift length = 13 frameshifted sequence: aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 13 189 E 201 * 13 kidney VHL 1 c.566_569delAAGA p.E189fs*12 length of cdnaseq = 642 length of protseq = 213 566 569 AAGA 4 189 2 190 2 aaga Total no. of codons in cdna seq = 214 gaa gac start g-a end a-c g-- --c frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 200 Protein length after deletion = 199 Total no. of codons in del cdnaseq = 213 last codon in array is ga gaa (E) gat (D) ctg (L) gaa (E) gac (D) cac (H) cca (P) aat (N) gtg (V) gaa (E) gat (D) ctg (L) gcc (A) acc (T) caa (Q) atg (M) original frameshift length = 12 frameshift length = 12 frameshifted sequence: gcc (A) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: gaa (E) gac (D) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 12 189 E 200 * 12 kidney VHL 1 c.567_567delA p.D190fs*12 length of cdnaseq = 642 length of protseq = 213 567 567 A 1 189 3 189 3 a Total no. of codons in cdna seq = 214 gaa gaa start a-a post g end a-g ga- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga gaa (E) gat (D) ctg (L) gaa (E) gaa (E) gac (D) cac (H) cca (P) aat (N) gaa (E) gat (D) ctg (L) gag (E) acc (T) acc (T) caa (Q) original frameshift length = 13 frameshift length = 13 frameshifted sequence: gag (E) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: gaa (E) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gaa (E) gag (E) first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 12 190 D 201 * 12 kidney VHL 1 c.568_568delG p.D190fs*12 length of cdnaseq = 642 length of protseq = 213 568 568 G 1 190 1 190 1 g Total no. of codons in cdna seq = 214 gac gac prev a start a-g end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga gat (D) ctg (L) gaa (E) gac (D) gac (D) cac (H) cca (P) aat (N) gtg (V) gat (D) ctg (L) gaa (E) acc (T) acc (T) caa (Q) atg (M) original frameshift length = 12 frameshift length = 12 frameshifted sequence: acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 12 190 D 201 * 12 kidney VHL 1 c.570_573delCCAC p.H191fs*10 length of cdnaseq = 642 length of protseq = 213 570 573 CCAC 4 190 3 191 3 ccac Total no. of codons in cdna seq = 214 gac cac start a-c post c end c-c ga- --- frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 200 Protein length after deletion = 199 Total no. of codons in del cdnaseq = 213 last codon in array is ga gat (D) ctg (L) gaa (E) gac (D) cac (H) cca (P) aat (N) gtg (V) cag (Q) gat (D) ctg (L) gaa (E) gac (D) caa (Q) atg (M) tgc (C) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gac (D) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: gac (D) cac (H) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gac (D) gac (D) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 10 191 H 200 * 10 kidney VHL 1 c.570_574delCCACC p.H191fs*23 length of cdnaseq = 642 length of protseq = 213 570 574 CCACC 5 190 3 192 1 ccacc Total no. of codons in cdna seq = 214 gac cca start a-c end c-c ga- -ca frameshift deletion length of cdnaseq after deletion = 637 Total no. of codons in del cdnaseq = 213 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 212 gat (D) ctg (L) gaa (E) gac (D) cca (P) aat (N) gtg (V) cag (Q) aaa (K) gat (D) ctg (L) gaa (E) gac (D) aaa (K) tgt (C) gca (A) original frameshift length = 24 frameshift length = 23 frameshifted sequence: gac (D) aaa (K) tgt (C) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: gac (D) cac (H) cca (P) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: gac (D) gac (D) first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 22 191 H 213 * 23 kidney VHL 1 c.573_577delCCCAA p.H191fs*22 length of cdnaseq = 642 length of protseq = 213 573 577 CCCAA 5 191 3 193 1 cccaa Total no. of codons in cdna seq = 214 cac aat start a-c end a-a ca- -at frameshift deletion length of cdnaseq after deletion = 637 Total no. of codons in del cdnaseq = 213 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 212 ctg (L) gaa (E) gac (D) cac (H) aat (N) gtg (V) cag (Q) aaa (K) gac (D) ctg (L) gaa (E) gac (D) caa (Q) tgt (C) gca (A) gaa (E) original frameshift length = 23 frameshift length = 22 frameshifted sequence: caa (Q) tgt (C) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: cac (H) cca (P) aat (N) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 22 191 H 212 * 22 kidney VHL 1 c.575delC p.P192fs*10 length of cdnaseq = 642 length of protseq = 213 575 575 C 1 192 2 192 2 c Total no. of codons in cdna seq = 214 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga gaa (E) gac (D) cac (H) cca (P) cca (P) aat (N) gtg (V) cag (Q) aaa (K) gaa (E) gac (D) cac (H) caa (Q) atg (M) tgc (C) aga (R) original frameshift length = 10 frameshift length = 10 frameshifted sequence: caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 10 192 P 201 * 10 kidney VHL 1 c.578_578delA p.N193fs*9 length of cdnaseq = 642 length of protseq = 213 578 578 A 1 193 2 193 2 a Total no. of codons in cdna seq = 214 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga gac (D) cac (H) cca (P) aat (N) aat (N) gtg (V) cag (Q) aaa (K) gac (D) gac (D) cac (H) cca (P) atg (M) tgc (C) aga (R) aag (K) original frameshift length = 9 frameshift length = 9 frameshifted sequence: atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 9 193 N 201 * 9 kidney VHL 1 c.579_580delTG p.V194fs*21 length of cdnaseq = 642 length of protseq = 213 579 580 TG 2 193 3 194 1 tg Total no. of codons in cdna seq = 214 aat gtg start a-t end g-t aa- -tg frameshift deletion length of cdnaseq after deletion = 640 Total no. of codons in del cdnaseq = 214 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 213 gac (D) cac (H) cca (P) aat (N) gtg (V) cag (Q) aaa (K) gac (D) ctg (L) gac (D) cac (H) cca (P) aat (N) gca (A) gaa (E) aga (R) original frameshift length = 22 frameshift length = 21 frameshifted sequence: aat (N) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: aat (N) gtg (V) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aat (N) aat (N) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 20 194 V 214 * 21 kidney VHL 1 c.581_582delTG p.V194fs*21 length of cdnaseq = 642 length of protseq = 213 581 582 TG 2 194 2 194 3 tg Total no. of codons in cdna seq = 214 gtg gtg start g-t post c end g-c g-- --- frameshift deletion length of cdnaseq after deletion = 640 Total no. of codons in del cdnaseq = 214 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 213 cac (H) cca (P) aat (N) gtg (V) gtg (V) cag (Q) aaa (K) gac (D) ctg (L) cac (H) cca (P) aat (N) gca (A) gaa (E) aga (R) cct (P) original frameshift length = 21 frameshift length = 20 frameshifted sequence: gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 20 194 V 214 * 21 kidney VHL 1 c.587_593delAAGACCT p.K196fs*4 length of cdnaseq = 642 length of protseq = 213 587 593 AAGACCT 7 196 2 198 2 aagacct Total no. of codons in cdna seq = 214 aaa ctg start a-a end t-g a-- --g frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 199 Protein length after deletion = 198 Total no. of codons in del cdnaseq = 212 last codon in array is ga aat (N) gtg (V) cag (Q) aaa (K) ctg (L) gag (E) cgg (R) ctg (L) aca (T) aat (N) gtg (V) cag (Q) agg (R) agc (S) ggc (G) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: agg (R) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: aaa (K) gac (D) ctg (L) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 4 196 K 199 * 4 kidney VHL 1 c.587_594delAAGACCTG p.K196fs*17 length of cdnaseq = 642 length of protseq = 213 587 594 AAGACCTG 8 196 2 198 3 aagacctg Total no. of codons in cdna seq = 214 aaa ctg start a-a post g end g-g a-- --- frameshift deletion length of cdnaseq after deletion = 634 Total no. of codons in del cdnaseq = 212 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 211 aat (N) gtg (V) cag (Q) aaa (K) ctg (L) gag (E) cgg (R) ctg (L) aca (T) aat (N) gtg (V) cag (Q) aga (R) gcg (A) gct (A) gac (D) original frameshift length = 17 frameshift length = 16 frameshifted sequence: aga (R) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: aaa (K) gac (D) ctg (L) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 16 196 K 212 * 17 kidney VHL 1 c.588_589delAG p.D197fs*17 length of cdnaseq = 642 length of protseq = 213 588 589 AG 2 196 3 197 1 ag Total no. of codons in cdna seq = 214 aaa gac start a-a end g-a aa- -ac frameshift deletion length of cdnaseq after deletion = 640 Total no. of codons in del cdnaseq = 214 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 213 aat (N) gtg (V) cag (Q) aaa (K) gac (D) ctg (L) gag (E) cgg (R) ctg (L) aat (N) gtg (V) cag (Q) aaa (K) cct (P) gga (G) gcg (A) original frameshift length = 19 frameshift length = 18 frameshifted sequence: aaa (K) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: aaa (K) gac (D) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: aaa (K) aaa (K) first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 17 197 D 213 * 17 kidney VHL 1 c.588delA p.D197fs*5 length of cdnaseq = 642 length of protseq = 213 588 588 A 1 196 3 196 3 a Total no. of codons in cdna seq = 214 aaa aaa start a-a post g end a-g aa- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga aat (N) gtg (V) cag (Q) aaa (K) aaa (K) gac (D) ctg (L) gag (E) cgg (R) aat (N) gtg (V) cag (Q) aag (K) acc (T) tgg (W) agc (S) original frameshift length = 6 frameshift length = 6 frameshifted sequence: aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aaa (K) aag (K) first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 5 197 D 201 * 5 kidney VHL 1 c.592_607del16 p.L198fs*11 length of cdnaseq = 642 length of protseq = 213 592 607 16 16 198 1 203 1 ctggagcggctgacac Total no. of codons in cdna seq = 214 ctg cag prev c start c-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 626 Total no. of codons in del cdnaseq = 209 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 208 cag (Q) aaa (K) gac (D) ctg (L) cag (Q) gag (E) cgc (R) att (I) gca (A) cag (Q) aaa (K) gac (D) agg (R) agc (S) gca (A) ttg (L) original frameshift length = 12 frameshift length = 11 frameshifted sequence: agg (R) agc (S) gca (A) ttg (L) cac (H) atc (I) aac (N) gga (G) tgg (W) gag (E) att (I) ga (end) wild type sequence in deletion region: ctg (L) gag (E) cgg (R) ctg (L) aca (T) cag (Q) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 11 198 L 208 * 11 kidney VHL 1 c.604_608delACACA p.T202fs*11 length of cdnaseq = 642 length of protseq = 213 604 608 ACACA 5 202 1 203 2 acaca Total no. of codons in cdna seq = 214 aca cag prev g start g-a end a-g --- --g frameshift deletion length of cdnaseq after deletion = 637 Total no. of codons in del cdnaseq = 213 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 212 gag (E) cgg (R) ctg (L) aca (T) cag (Q) gag (E) cgc (R) att (I) gca (A) gag (E) cgg (R) ctg (L) gga (G) gcg (A) cat (H) tgc (C) original frameshift length = 12 frameshift length = 11 frameshifted sequence: gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: aca (T) cag (Q) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aca (T) final frameshift length = 11 202 T 212 * 11 kidney VHL 1 c.607_608delCA p.Q203fs*11 length of cdnaseq = 642 length of protseq = 213 607 608 CA 2 203 1 203 2 ca Total no. of codons in cdna seq = 214 cag cag prev a start a-c end a-g --- --g frameshift deletion length of cdnaseq after deletion = 640 Total no. of codons in del cdnaseq = 214 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 213 cgg (R) ctg (L) aca (T) cag (Q) cag (Q) gag (E) cgc (R) att (I) gca (A) cgg (R) ctg (L) aca (T) gga (G) gcg (A) cat (H) tgc (C) original frameshift length = 12 frameshift length = 11 frameshifted sequence: gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 11 203 Q 213 * 11 kidney VHL 1 c.607delC p.Q203fs*11 length of cdnaseq = 642 length of protseq = 213 607 607 C 1 203 1 203 1 c Total no. of codons in cdna seq = 214 cag cag prev a start a-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 641 Total no. of codons in del cdnaseq = 214 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 213 cgg (R) ctg (L) aca (T) cag (Q) cag (Q) gag (E) cgc (R) att (I) gca (A) cgg (R) ctg (L) aca (T) agg (R) agc (S) gca (A) ttg (L) original frameshift length = 12 frameshift length = 11 frameshifted sequence: agg (R) agc (S) gca (A) ttg (L) cac (H) atc (I) aac (N) gga (G) tgg (W) gag (E) att (I) ga (end) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 11 203 Q 213 * 11 kidney VHL 1 c.618_621delTGCA p.A207fs*6 length of cdnaseq = 642 length of protseq = 213 618 621 TGCA 4 206 3 207 3 tgca Total no. of codons in cdna seq = 214 att gca start t-t post c end a-c at- --- frameshift deletion length of cdnaseq after deletion = 638 Total no. of codons in del cdnaseq = 213 last codon in array is ga No ter codons in deleted sequence Protein length after deletion = 212 cag (Q) gag (E) cgc (R) att (I) gca (A) cat (H) caa (Q) cgg (R) atg (M) cag (Q) gag (E) cgc (R) atc (I) atc (I) aac (N) gga (G) original frameshift length = 8 frameshift length = 7 frameshifted sequence: atc (I) atc (I) aac (N) gga (G) tgg (W) gag (E) att (I) ga (end) wild type sequence in deletion region: att (I) gca (A) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: att (I) atc (I) first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 6 207 A 212 * 6 kidney VHL 1 c.88_89delGG p.E31fs*100 length of cdnaseq = 642 length of protseq = 213 88 89 GG 2 30 1 30 2 gg Total no. of codons in cdna seq = 214 ggg ggg prev c start c-g end g-g --- --g frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a gaa (E) gac (D) ggc (G) ggg (G) ggg (G) gag (E) gag (E) tcg (S) ggc (G) gaa (E) gac (D) ggc (G) gga (G) gga (G) gtc (V) ggg (G) original frameshift length = 101 frameshift length = 101 frameshifted sequence: gga (G) gga (G) gtc (V) ggg (G) cgc (R) cga (R) gga (G) gtc (V) cgg (R) ccc (P) gga (G) aga (R) gtc (V) cgg (R) ccc (P) gga (G) gga (G) act (T) ggg (G) cgc (R) cga (R) gga (G) gga (G) gat (D) gga (G) ggc (G) cgg (R) gcg (A) gcc (A) gcg (A) gcc (A) cgt (R) gct (A) gcg (A) ctc (L) ggt (G) gaa (E) ctc (L) gcg (A) cga (R) gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 100 31 E 130 * 100 kidney VHL 1 c.90_91delGG p.E31fs*100 length of cdnaseq = 642 length of protseq = 213 90 91 GG 2 30 3 31 1 gg Total no. of codons in cdna seq = 214 ggg gag start g-g end g-a gg- -ag frameshift deletion length of cdnaseq after deletion = 640 ter codon is taa at posn 130 Protein length after deletion = 129 Total no. of codons in del cdnaseq = 214 last codon in array is a gaa (E) gac (D) ggc (G) ggg (G) gag (E) gag (E) tcg (S) ggc (G) gcc (A) gaa (E) gac (D) ggc (G) gga (G) gga (G) gtc (V) ggg (G) original frameshift length = 101 frameshift length = 101 frameshifted sequence: gga (G) gga (G) gtc (V) ggg (G) cgc (R) cga (R) gga (G) gtc (V) cgg (R) ccc (P) gga (G) aga (R) gtc (V) cgg (R) ccc (P) gga (G) gga (G) act (T) ggg (G) cgc (R) cga (R) gga (G) gga (G) gat (D) gga (G) ggc (G) cgg (R) gcg (A) gcc (A) gcg (A) gcc (A) cgt (R) gct (A) gcg (A) ctc (L) ggt (G) gaa (E) ctc (L) gcg (A) cga (R) gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ggg (G) gag (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ggg (G) gga (G) first wt aa affected by frameshift deletion is : gag (E) final frameshift length = 100 31 E 130 * 100 kidney VHL 1 c.231_232delCA p.C77* length of cdnaseq = 642 length of protseq = 213 231 232 CA 2 77 3 78 1 ca Total no. of codons in cdna seq = 214 tgc aat start g-c end a-a tg- -at frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 77 Protein length after deletion = 76 Total no. of codons in del cdnaseq = 214 last codon in array is a gtc (V) atc (I) ttc (F) tgc (C) aat (N) cgc (R) agt (S) ccg (P) cgc (R) gtc (V) atc (I) ttc (F) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tgc (C) aat (N) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : tgc (C) final frameshift length = 1 77 C 77 * kidney VHL 1 c.299_317del19 p.T100_G106>S length of cdnaseq = 642 length of protseq = 213 299 317 19 19 100 2 106 2 cgctgccgcctggcacggg Total no. of codons in cdna seq = 214 acg ggc start a-c end g-c a-- --c frameshift deletion length of cdnaseq after deletion = 623 ter codon is tga at posn 152 Protein length after deletion = 151 Total no. of codons in del cdnaseq = 208 last codon in array is ga ccc (P) tac (Y) cca (P) acg (T) ggc (G) cgc (R) cgc (R) atc (I) cac (H) ccc (P) tac (Y) cca (P) acc (T) gcc (A) gca (A) tcc (S) original frameshift length = 53 frameshift length = 53 frameshifted sequence: acc (T) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: acg (T) ctg (L) ccg (P) cct (P) ggc (G) acg (T) ggc (G) wt frameshift deln region length = 7 matching aa in delstart region of wt and deletion mutant: acg (T) acc (T) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 52 100 T 106 G S L T 1 kidney VHL c.299_317del19 p.T100_G106>S kidney VHL 1 c.391_398delAACCAAAC p.N131* length of cdnaseq = 642 length of protseq = 213 391 398 AACCAAAC 8 131 1 133 2 aaccaaac Total no. of codons in cdna seq = 214 aac act prev t start t-a end c-t --- --t frameshift deletion length of cdnaseq after deletion = 634 ter codon is tga at posn 131 Protein length after deletion = 130 Total no. of codons in del cdnaseq = 212 last codon in array is a ctt (L) ctg (L) gtt (V) aac (N) act (T) gaa (E) tta (L) ttt (F) gtg (V) ctt (L) ctg (L) gtt (V) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: aac (N) caa (Q) act (T) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 1 131 N 131 * kidney VHL 1 c.418_425delCTCAATGT p.L140* length of cdnaseq = 642 length of protseq = 213 418 425 CTCAATGT 8 140 1 142 2 ctcaatgt Total no. of codons in cdna seq = 214 ctc gtt prev t start t-c end t-t --- --t frameshift deletion length of cdnaseq after deletion = 634 ter codon is tga at posn 140 Protein length after deletion = 139 Total no. of codons in del cdnaseq = 212 last codon in array is a gtg (V) cca (P) tct (S) ctc (L) gtt (V) gac (D) gga (G) cag (Q) cct (P) gtg (V) cca (P) tct (S) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: ctc (L) aat (N) gtt (V) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 1 140 L 140 * kidney VHL 1 c.468_471delTACT p.T157* length of cdnaseq = 642 length of protseq = 213 468 471 TACT 4 156 3 157 3 tact Total no. of codons in cdna seq = 214 tat act start a-t post c end t-c ta- --- frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga ctg (L) cca (P) gtg (V) tat (Y) act (T) ctg (L) aaa (K) gag (E) cga (R) ctg (L) cca (P) gtg (V) tac (Y) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: tac (Y) tga (TER) wild type sequence in deletion region: tat (Y) act (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: tat (Y) tac (Y) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 1 157 T 157 * kidney VHL 1 c.505_505delC p.L169* length of cdnaseq = 642 length of protseq = 213 505 505 C 1 169 1 169 1 c Total no. of codons in cdna seq = 214 cta cta prev c start c-c end c-t --- -ta frameshift deletion length of cdnaseq after deletion = 641 ter codon is tag at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 214 last codon in array is ga gtc (V) cgg (R) agc (S) cta (L) cta (L) gtc (V) aag (K) cct (P) gag (E) gtc (V) cgg (R) agc (S) tag (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tag (TER) wild type sequence in deletion region: cta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cta (L) final frameshift length = 1 169 L 169 * kidney VHL 1 c.548_555delCGCTCTAC p.S183* length of cdnaseq = 642 length of protseq = 213 548 555 CGCTCTAC 8 183 2 185 3 cgctctac Total no. of codons in cdna seq = 214 tcg tac start t-c post g end c-g t-- --- frameshift deletion length of cdnaseq after deletion = 634 ter codon is tga at posn 183 Protein length after deletion = 182 Total no. of codons in del cdnaseq = 212 last codon in array is a atc (I) gtc (V) agg (R) tcg (S) tac (Y) gaa (E) gat (D) ctg (L) gaa (E) atc (I) gtc (V) agg (R) tga (TER) --- ( ) --- ( ) --- ( ) original frameshift length = 1 frameshift length = 1 frameshifted sequence: tga (TER) wild type sequence in deletion region: tcg (S) ctc (L) tac (Y) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : tcg (S) final frameshift length = 1 183 S 183 * soft_tissue VHL 1 c.159_168del10 p.M54fs*10 length of cdnaseq = 642 length of protseq = 213 159 168 10 10 53 3 56 3 gatggaggcc Total no. of codons in cdna seq = 214 gag gcc start a-g post g end c-g ga- --- frameshift deletion length of cdnaseq after deletion = 632 ter codon is tga at posn 63 Protein length after deletion = 62 Total no. of codons in del cdnaseq = 211 last codon in array is ga gcc (A) gag (E) gag (E) gag (E) gcc (A) ggg (G) cgg (R) ccg (P) cgg (R) gcc (A) gag (E) gag (E) gag (E) ggc (G) ggc (G) cgc (R) original frameshift length = 11 frameshift length = 11 frameshifted sequence: gag (E) ggc (G) ggc (G) cgc (R) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: gag (E) atg (M) gag (E) gcc (A) wt frameshift deln region length = 4 matching aa in delstart region of wt and deletion mutant: gag (E) gag (E) first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 10 54 M 63 * 10 soft_tissue VHL 1 c.179_182delGGCC p.R60fs*6 length of cdnaseq = 642 length of protseq = 213 179 182 GGCC 4 60 2 61 2 ggcc Total no. of codons in cdna seq = 214 cgg ccc start c-g end c-c c-- --c frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 65 Protein length after deletion = 64 Total no. of codons in del cdnaseq = 213 last codon in array is ga ggg (G) cgg (R) ccg (P) cgg (R) ccc (P) gtg (V) ctg (L) cgc (R) tcg (S) ggg (G) cgg (R) ccg (P) ccg (P) tgc (C) tgc (C) gct (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: cgg (R) ccc (P) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 6 60 R 65 * 6 soft_tissue VHL 1 c.187delC p.L63fs*4 length of cdnaseq = 642 length of protseq = 213 187 187 C 1 63 1 63 1 c Total no. of codons in cdna seq = 214 ctg ctg prev g start g-c end c-t --- -tg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga cgg (R) ccc (P) gtg (V) ctg (L) ctg (L) cgc (R) tcg (S) gtg (V) aac (N) cgg (R) ccc (P) gtg (V) tgc (C) gct (A) cgg (R) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: ctg (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 4 63 L 66 * 4 soft_tissue VHL 1 c.213_232del20 p.V74fs*51 length of cdnaseq = 642 length of protseq = 213 213 232 20 20 71 3 78 1 ctcccaggtcatcttctgca Total no. of codons in cdna seq = 214 ccc aat start c-c end a-a cc- -at frameshift deletion length of cdnaseq after deletion = 622 ter codon is taa at posn 124 Protein length after deletion = 123 Total no. of codons in del cdnaseq = 208 last codon in array is a tcg (S) cgc (R) gag (E) ccc (P) aat (N) cgc (R) agt (S) ccg (P) cgc (R) tcg (S) cgc (R) gag (E) cca (P) tcg (S) cag (Q) tcc (S) original frameshift length = 54 frameshift length = 54 frameshifted sequence: cca (P) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ccc (P) tcc (S) cag (Q) gtc (V) atc (I) ttc (F) tgc (C) aat (N) wt frameshift deln region length = 8 matching aa in delstart region of wt and deletion mutant: ccc (P) cca (P) matching aa in delstart region of wt and deletion mutant: tcc (S) tcg (S) matching aa in delstart region of wt and deletion mutant: cag (Q) cag (Q) first wt aa affected by frameshift deletion is : gtc (V) final frameshift length = 51 74 V 124 * 51 soft_tissue VHL 1 c.226_232delTTCTGCA p.F76fs*81 length of cdnaseq = 642 length of protseq = 213 226 232 TTCTGCA 7 76 1 78 1 ttctgca Total no. of codons in cdna seq = 214 ttc aat prev c start c-t end a-a --- -at frameshift deletion length of cdnaseq after deletion = 635 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 212 last codon in array is ga cag (Q) gtc (V) atc (I) ttc (F) aat (N) cgc (R) agt (S) ccg (P) cgc (R) cag (Q) gtc (V) atc (I) atc (I) gca (A) gtc (V) cgc (R) original frameshift length = 81 frameshift length = 81 frameshifted sequence: atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ttc (F) tgc (C) aat (N) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : ttc (F) final frameshift length = 81 76 F 156 * 81 soft_tissue VHL 1 c.251_260del10 p.V84fs*72 length of cdnaseq = 642 length of protseq = 213 251 260 10 10 84 2 87 2 tgctgcccgt Total no. of codons in cdna seq = 214 gtg gta start g-t end t-a g-- --a frameshift deletion length of cdnaseq after deletion = 632 ter codon is tga at posn 155 Protein length after deletion = 154 Total no. of codons in del cdnaseq = 211 last codon in array is ga ccg (P) cgc (R) gtc (V) gtg (V) gta (V) tgg (W) ctc (L) aac (N) ttc (F) ccg (P) cgc (R) gtc (V) gat (D) ggc (G) tca (S) act (T) original frameshift length = 72 frameshift length = 72 frameshifted sequence: gat (D) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtg (V) ctg (L) ccc (P) gta (V) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 72 84 V 155 * 72 soft_tissue VHL 1 c.399_400delTG p.E134fs*9 length of cdnaseq = 642 length of protseq = 213 399 400 TG 2 133 3 134 1 tg Total no. of codons in cdna seq = 214 act gaa start c-t end g-a ac- -aa frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 142 Protein length after deletion = 141 Total no. of codons in del cdnaseq = 214 last codon in array is a gtt (V) aac (N) caa (Q) act (T) gaa (E) tta (L) ttt (F) gtg (V) cca (P) gtt (V) aac (N) caa (Q) aca (T) att (I) att (I) tgt (C) original frameshift length = 10 frameshift length = 10 frameshifted sequence: aca (T) att (I) att (I) tgt (C) gcc (A) atc (I) tct (S) caa (Q) tgt (C) tga (TER) wild type sequence in deletion region: act (T) gaa (E) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: act (T) aca (T) first wt aa affected by frameshift deletion is : gaa (E) final frameshift length = 9 134 E 142 * 9 soft_tissue VHL 1 c.421_422delAA p.N141fs*2 length of cdnaseq = 642 length of protseq = 213 421 422 AA 2 141 1 141 2 aa Total no. of codons in cdna seq = 214 aat aat prev c start c-a end a-t --- --t frameshift deletion length of cdnaseq after deletion = 640 ter codon is tga at posn 142 Protein length after deletion = 141 Total no. of codons in del cdnaseq = 214 last codon in array is a cca (P) tct (S) ctc (L) aat (N) aat (N) gtt (V) gac (D) gga (G) cag (Q) cca (P) tct (S) ctc (L) tgt (C) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: tgt (C) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 2 141 N 142 * 2 soft_tissue VHL 1 c.450delT p.N150fs*9 length of cdnaseq = 642 length of protseq = 213 450 450 T 1 150 3 150 3 t Total no. of codons in cdna seq = 214 aat aat start a-t post a end t-a aa- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga att (I) ttt (F) gcc (A) aat (N) aat (N) atc (I) aca (T) ctg (L) cca (P) att (I) ttt (F) gcc (A) aaa (K) tca (S) cac (H) tgc (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: aaa (K) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 9 150 N 158 * 9 soft_tissue VHL 1 c.514delC p.P172fs*30 length of cdnaseq = 642 length of protseq = 213 514 514 C 1 172 1 172 1 c Total no. of codons in cdna seq = 214 cct cct prev g start g-c end c-c --- -ct frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga cta (L) gtc (V) aag (K) cct (P) cct (P) gag (E) aat (N) tac (Y) agg (R) cta (L) gtc (V) aag (K) ctg (L) aga (R) att (I) aca (T) original frameshift length = 30 frameshift length = 30 frameshifted sequence: ctg (L) aga (R) att (I) aca (T) gga (G) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 30 172 P 201 * 30 thyroid VHL 1 c.176_176delC p.P59fs*8 length of cdnaseq = 642 length of protseq = 213 176 176 C 1 59 2 59 2 c Total no. of codons in cdna seq = 214 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga gcc (A) ggg (G) cgg (R) ccg (P) ccg (P) cgg (R) ccc (P) gtg (V) ctg (L) gcc (A) ggg (G) cgg (R) cgc (R) ggc (G) ccg (P) tgc (C) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cgc (R) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 8 59 P 66 * 8 upper_aerodigestive_tract VHL 1 c.12_12delG p.A5fs*9 length of cdnaseq = 642 length of protseq = 213 12 12 G 1 4 3 4 3 g Total no. of codons in cdna seq = 214 agg agg start g-g post g end g-g ag- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tag at posn 13 Protein length after deletion = 12 Total no. of codons in del cdnaseq = 214 last codon in array is ga atg (M) ccc (P) cgg (R) agg (R) agg (R) gcg (A) gag (E) aac (N) tgg (W) atg (M) ccc (P) cgg (R) agg (R) cgg (R) aga (R) act (T) original frameshift length = 10 frameshift length = 10 frameshifted sequence: agg (R) cgg (R) aga (R) act (T) ggg (G) acg (T) agg (R) ccg (P) agg (R) tag (TER) wild type sequence in deletion region: agg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: agg (R) agg (R) first wt aa affected by frameshift deletion is : gcg (A) final frameshift length = 9 5 A 13 * 9 kidney VHL 2 c.1_17del17 p.M1fs*20 length of cdnaseq = 642 length of protseq = 213 1 17 17 17 1 1 6 2 atgccccggagggcgga Total no. of codons in cdna seq = 214 atg gag deletion begins at cdna pos 1 end a-g --- --g frameshift deletion length of cdnaseq after deletion = 625 ter codon is tga at posn 20 Protein length after deletion = 19 Total no. of codons in del cdnaseq = 209 last codon in array is a --- ( ) --- ( ) --- ( ) atg (M) gag (E) aac (N) tgg (W) gac (D) gag (E) --- ( ) --- ( ) --- ( ) gaa (E) ctg (L) gga (G) cga (R) original frameshift length = 20 frameshift length = 20 frameshifted sequence: gaa (E) ctg (L) gga (G) cga (R) ggc (G) cga (R) ggt (G) agg (R) cgc (R) gga (G) gga (G) ggc (G) agg (R) cgt (R) cga (R) aga (R) gta (V) cgg (R) ccc (P) tga (TER) wild type sequence in deletion region: atg (M) ccc (P) cgg (R) agg (R) gcg (A) gag (E) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : atg (M) final frameshift length = 20 1 M 20 * 20 kidney VHL 2 c.169_169delG p.R58fs*9 length of cdnaseq = 642 length of protseq = 213 169 169 G 1 57 1 57 1 g Total no. of codons in cdna seq = 214 ggg ggg prev c start c-g end g-g --- -gg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga atg (M) gag (E) gcc (A) ggg (G) ggg (G) cgg (R) ccg (P) cgg (R) ccc (P) atg (M) gag (E) gcc (A) ggc (G) ggc (G) cgc (R) ggc (G) original frameshift length = 10 frameshift length = 10 frameshifted sequence: ggc (G) ggc (G) cgc (R) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) ggc (G) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 9 58 R 66 * 9 kidney VHL 2 c.176_176delC p.P59fs*8 length of cdnaseq = 642 length of protseq = 213 176 176 C 1 59 2 59 2 c Total no. of codons in cdna seq = 214 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga gcc (A) ggg (G) cgg (R) ccg (P) ccg (P) cgg (R) ccc (P) gtg (V) ctg (L) gcc (A) ggg (G) cgg (R) cgc (R) ggc (G) ccg (P) tgc (C) original frameshift length = 8 frameshift length = 8 frameshifted sequence: cgc (R) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 8 59 P 66 * 8 kidney VHL 2 c.183_187delCGTGC p.V62fs*68 length of cdnaseq = 642 length of protseq = 213 183 187 CGTGC 5 61 3 63 1 cgtgc Total no. of codons in cdna seq = 214 ccc ctg start c-c end c-t cc- -tg frameshift deletion length of cdnaseq after deletion = 637 ter codon is taa at posn 129 Protein length after deletion = 128 Total no. of codons in del cdnaseq = 213 last codon in array is a cgg (R) ccg (P) cgg (R) ccc (P) ctg (L) cgc (R) tcg (S) gtg (V) aac (N) cgg (R) ccg (P) cgg (R) cct (P) gcg (A) ctc (L) ggt (G) original frameshift length = 69 frameshift length = 69 frameshifted sequence: cct (P) gcg (A) ctc (L) ggt (G) gaa (E) ctc (L) gcg (A) cga (R) gcc (A) ctc (L) cca (P) ggt (G) cat (H) ctt (L) ctg (L) caa (Q) tcg (S) cag (Q) tcc (S) gcg (A) cgt (R) cgt (R) gct (A) gcc (A) cgt (R) atg (M) gct (A) caa (Q) ctt (L) cga (R) cgg (R) cga (R) gcc (A) gca (A) gcc (A) cta (L) ccc (P) aac (N) gct (A) gcc (A) gcc (A) tgg (W) cac (H) ggg (G) ccg (P) ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: ccc (P) gtg (V) ctg (L) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 68 62 V 129 * 68 kidney VHL 2 c.192_192delC p.S65fs*2 length of cdnaseq = 642 length of protseq = 213 192 192 C 1 64 3 64 3 c Total no. of codons in cdna seq = 214 cgc cgc start g-c post t end c-t cg- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga ccc (P) gtg (V) ctg (L) cgc (R) cgc (R) tcg (S) gtg (V) aac (N) tcg (S) ccc (P) gtg (V) ctg (L) cgt (R) cgg (R) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cgt (R) cgg (R) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgc (R) cgt (R) first wt aa affected by frameshift deletion is : tcg (S) final frameshift length = 2 65 S 66 * 2 kidney VHL 2 c.217delC p.Q73fs*86 length of cdnaseq = 642 length of protseq = 213 217 217 C 1 73 1 73 1 c Total no. of codons in cdna seq = 214 cag cag prev c start c-c end c-a --- -ag frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gag (E) ccc (P) tcc (S) cag (Q) cag (Q) gtc (V) atc (I) ttc (F) tgc (C) gag (E) ccc (P) tcc (S) agg (R) tca (S) tct (S) tct (S) original frameshift length = 86 frameshift length = 86 frameshifted sequence: agg (R) tca (S) tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 86 73 Q 158 * 86 kidney VHL 2 c.242delC p.P81fs*78 length of cdnaseq = 642 length of protseq = 213 242 242 C 1 81 2 81 2 c Total no. of codons in cdna seq = 214 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga aat (N) cgc (R) agt (S) ccg (P) ccg (P) cgc (R) gtc (V) gtg (V) ctg (L) aat (N) cgc (R) agt (S) cgc (R) gcg (A) tcg (S) tgc (C) original frameshift length = 78 frameshift length = 78 frameshifted sequence: cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 78 81 P 158 * 78 kidney VHL 2 c.269delA p.N90fs*69 length of cdnaseq = 642 length of protseq = 213 269 269 A 1 90 2 90 2 a Total no. of codons in cdna seq = 214 aac aac start a-a end a-c a-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gta (V) tgg (W) ctc (L) aac (N) aac (N) ttc (F) gac (D) ggc (G) gag (E) gta (V) tgg (W) ctc (L) act (T) tcg (S) acg (T) gcg (A) original frameshift length = 69 frameshift length = 69 frameshifted sequence: act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 69 90 N 158 * 69 kidney VHL 2 c.309_309delT p.G104fs*55 length of cdnaseq = 642 length of protseq = 213 309 309 T 1 103 3 103 3 t Total no. of codons in cdna seq = 214 cct cct start c-t post g end t-g cc- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga acg (T) ctg (L) ccg (P) cct (P) cct (P) ggc (G) acg (T) ggc (G) cgc (R) acg (T) ctg (L) ccg (P) ccg (P) gca (A) cgg (R) gcc (A) original frameshift length = 56 frameshift length = 56 frameshifted sequence: ccg (P) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cct (P) ccg (P) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 55 104 G 158 * 55 kidney VHL 2 c.309_322del14 p.G104fs*23 length of cdnaseq = 642 length of protseq = 213 309 322 14 14 103 3 108 1 tggcacgggccgcc Total no. of codons in cdna seq = 214 cct cgc start c-t end c-g cc- -gc frameshift deletion length of cdnaseq after deletion = 628 ter codon is taa at posn 126 Protein length after deletion = 125 Total no. of codons in del cdnaseq = 210 last codon in array is a acg (T) ctg (L) ccg (P) cct (P) cgc (R) atc (I) cac (H) agc (S) tac (Y) acg (T) ctg (L) ccg (P) ccg (P) cat (H) cca (P) cag (Q) original frameshift length = 24 frameshift length = 24 frameshifted sequence: ccg (P) cat (H) cca (P) cag (Q) cta (L) ccg (P) agg (R) tca (S) cct (P) ttg (L) gct (A) ctt (L) cag (Q) aga (R) tgc (C) agg (R) gac (D) aca (T) cga (R) tgg (W) gct (A) tct (S) ggt (G) taa (TER) wild type sequence in deletion region: cct (P) ggc (G) acg (T) ggc (G) cgc (R) cgc (R) wt frameshift deln region length = 6 matching aa in delstart region of wt and deletion mutant: cct (P) ccg (P) first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 23 104 G 126 * 23 kidney VHL 2 c.310delG p.G104fs*55 length of cdnaseq = 642 length of protseq = 213 310 310 G 1 104 1 104 1 g Total no. of codons in cdna seq = 214 ggc ggc prev t start t-g end g-g --- -gc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ctg (L) ccg (P) cct (P) ggc (G) ggc (G) acg (T) ggc (G) cgc (R) cgc (R) ctg (L) ccg (P) cct (P) gca (A) cgg (R) gcc (A) gcc (A) original frameshift length = 55 frameshift length = 55 frameshifted sequence: gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 55 104 G 158 * 55 kidney VHL 2 c.311delG p.G104fs*55 length of cdnaseq = 642 length of protseq = 213 311 311 G 1 104 2 104 2 g Total no. of codons in cdna seq = 214 ggc ggc start g-g end g-c g-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ctg (L) ccg (P) cct (P) ggc (G) ggc (G) acg (T) ggc (G) cgc (R) cgc (R) ctg (L) ccg (P) cct (P) gca (A) cgg (R) gcc (A) gcc (A) original frameshift length = 55 frameshift length = 55 frameshifted sequence: gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ggc (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ggc (G) final frameshift length = 55 104 G 158 * 55 kidney VHL 2 c.322delC p.R108fs*51 length of cdnaseq = 642 length of protseq = 213 322 322 C 1 108 1 108 1 c Total no. of codons in cdna seq = 214 cgc cgc prev c start c-c end c-g --- -gc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga acg (T) ggc (G) cgc (R) cgc (R) cgc (R) atc (I) cac (H) agc (S) tac (Y) acg (T) ggc (G) cgc (R) gca (A) tcc (S) aca (T) gct (A) original frameshift length = 51 frameshift length = 51 frameshifted sequence: gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 51 108 R 158 * 51 kidney VHL 2 c.344delA p.H115fs*44 length of cdnaseq = 642 length of protseq = 213 344 344 A 1 115 2 115 2 a Total no. of codons in cdna seq = 214 cac cac start c-a end a-c c-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga tac (Y) cga (R) ggt (G) cac (H) cac (H) ctt (L) tgg (W) ctc (L) ttc (F) tac (Y) cga (R) ggt (G) ccc (P) ttt (F) ggc (G) tct (S) original frameshift length = 44 frameshift length = 44 frameshifted sequence: ccc (P) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cac (H) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 44 115 H 158 * 44 kidney VHL 2 c.390_390delT p.N131fs*28 length of cdnaseq = 642 length of protseq = 213 390 390 T 1 130 3 130 3 t Total no. of codons in cdna seq = 214 gtt gtt start t-t post a end t-a gt- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ggg (G) ctt (L) ctg (L) gtt (V) gtt (V) aac (N) caa (Q) act (T) gaa (E) ggg (G) ctt (L) ctg (L) gta (V) acc (T) aaa (K) ctg (L) original frameshift length = 29 frameshift length = 29 frameshifted sequence: gta (V) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtt (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gtt (V) gta (V) first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 28 131 N 158 * 28 kidney VHL 2 c.391delA p.N131fs*28 length of cdnaseq = 642 length of protseq = 213 391 391 A 1 131 1 131 1 a Total no. of codons in cdna seq = 214 aac aac prev t start t-a end a-a --- -ac frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ctt (L) ctg (L) gtt (V) aac (N) aac (N) caa (Q) act (T) gaa (E) tta (L) ctt (L) ctg (L) gtt (V) acc (T) aaa (K) ctg (L) aat (N) original frameshift length = 28 frameshift length = 28 frameshifted sequence: acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aac (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 28 131 N 158 * 28 kidney VHL 2 c.393_396delCCAA p.N131fs*27 length of cdnaseq = 642 length of protseq = 213 393 396 CCAA 4 131 3 132 3 ccaa Total no. of codons in cdna seq = 214 aac caa start a-c post a end a-a aa- --- frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga ctt (L) ctg (L) gtt (V) aac (N) caa (Q) act (T) gaa (E) tta (L) ttt (F) ctt (L) ctg (L) gtt (V) aaa (K) ctg (L) aat (N) tat (Y) original frameshift length = 27 frameshift length = 27 frameshifted sequence: aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aac (N) caa (Q) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : aac (N) final frameshift length = 27 131 N 157 * 27 kidney VHL 2 c.409delG p.V137fs*22 length of cdnaseq = 642 length of protseq = 213 409 409 G 1 137 1 137 1 g Total no. of codons in cdna seq = 214 gtg gtg prev t start t-g end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gaa (E) tta (L) ttt (F) gtg (V) gtg (V) cca (P) tct (S) ctc (L) aat (N) gaa (E) tta (L) ttt (F) tgc (C) cat (H) ctc (L) tca (S) original frameshift length = 22 frameshift length = 22 frameshifted sequence: tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 22 137 V 158 * 22 kidney VHL 2 c.414_414delA p.S139fs*20 length of cdnaseq = 642 length of protseq = 213 414 414 A 1 138 3 138 3 a Total no. of codons in cdna seq = 214 cca cca start c-a post t end a-t cc- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga tta (L) ttt (F) gtg (V) cca (P) cca (P) tct (S) ctc (L) aat (N) gtt (V) tta (L) ttt (F) gtg (V) cct (P) ctc (L) tca (S) atg (M) original frameshift length = 21 frameshift length = 21 frameshifted sequence: cct (P) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cca (P) cct (P) first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 20 139 S 158 * 20 kidney VHL 2 c.423delT p.N141fs*18 length of cdnaseq = 642 length of protseq = 213 423 423 T 1 141 3 141 3 t Total no. of codons in cdna seq = 214 aat aat start a-t post g end t-g aa- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cca (P) tct (S) ctc (L) aat (N) aat (N) gtt (V) gac (D) gga (G) cag (Q) cca (P) tct (S) ctc (L) aag (K) ttg (L) acg (T) gac (D) original frameshift length = 18 frameshift length = 18 frameshifted sequence: aag (K) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 18 141 N 158 * 18 kidney VHL 2 c.437delC p.P146fs*13 length of cdnaseq = 642 length of protseq = 213 437 437 C 1 146 2 146 2 c Total no. of codons in cdna seq = 214 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gac (D) gga (G) cag (Q) cct (P) cct (P) att (I) ttt (F) gcc (A) aat (N) gac (D) gga (G) cag (Q) cta (L) ttt (F) ttg (L) cca (P) original frameshift length = 13 frameshift length = 13 frameshifted sequence: cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 13 146 P 158 * 13 kidney VHL 2 c.449delA p.N150fs*9 length of cdnaseq = 642 length of protseq = 213 449 449 A 1 150 2 150 2 a Total no. of codons in cdna seq = 214 aat aat start a-a end a-t a-- --t frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga att (I) ttt (F) gcc (A) aat (N) aat (N) atc (I) aca (T) ctg (L) cca (P) att (I) ttt (F) gcc (A) ata (I) tca (S) cac (H) tgc (C) original frameshift length = 9 frameshift length = 9 frameshifted sequence: ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 9 150 N 158 * 9 kidney VHL 2 c.456_456delA p.L153fs*6 length of cdnaseq = 642 length of protseq = 213 456 456 A 1 152 3 152 3 a Total no. of codons in cdna seq = 214 aca aca start c-a post c end a-c ac- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gcc (A) aat (N) atc (I) aca (T) aca (T) ctg (L) cca (P) gtg (V) tat (Y) gcc (A) aat (N) atc (I) acc (T) tgc (C) cag (Q) tgt (C) original frameshift length = 7 frameshift length = 7 frameshifted sequence: acc (T) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: aca (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: aca (T) acc (T) first wt aa affected by frameshift deletion is : ctg (L) final frameshift length = 6 153 L 158 * 6 kidney VHL 2 c.463delG p.V155fs*4 length of cdnaseq = 642 length of protseq = 213 463 463 G 1 155 1 155 1 g Total no. of codons in cdna seq = 214 gtg gtg prev a start a-g end g-t --- -tg frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga aca (T) ctg (L) cca (P) gtg (V) gtg (V) tat (Y) act (T) ctg (L) aaa (K) aca (T) ctg (L) cca (P) tgt (C) ata (I) ctc (L) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 4 155 V 158 * 4 kidney VHL 2 c.464_474del11 p.V155fs*15 length of cdnaseq = 642 length of protseq = 213 464 474 11 11 155 2 158 3 tgtatactctg Total no. of codons in cdna seq = 214 gtg ctg start g-t post a end g-a g-- --- frameshift deletion length of cdnaseq after deletion = 631 ter codon is tga at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 211 last codon in array is a aca (T) ctg (L) cca (P) gtg (V) ctg (L) aaa (K) gag (E) cga (R) tgc (C) aca (T) ctg (L) cca (P) gaa (E) aga (R) gcg (A) atg (M) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gaa (E) aga (R) gcg (A) atg (M) cct (P) cca (P) ggt (G) tgt (C) ccg (P) gag (E) cct (P) agt (S) caa (Q) gcc (A) tga (TER) wild type sequence in deletion region: gtg (V) tat (Y) act (T) ctg (L) wt frameshift deln region length = 4 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 15 155 V 169 * 15 kidney VHL 2 c.464delT p.V155fs*4 length of cdnaseq = 642 length of protseq = 213 464 464 T 1 155 2 155 2 t Total no. of codons in cdna seq = 214 gtg gtg start g-t end t-g g-- --g frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga aca (T) ctg (L) cca (P) gtg (V) gtg (V) tat (Y) act (T) ctg (L) aaa (K) aca (T) ctg (L) cca (P) ggt (G) ata (I) ctc (L) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: ggt (G) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtg (V) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 4 155 V 158 * 4 kidney VHL 2 c.488delT p.L163fs*7 length of cdnaseq = 642 length of protseq = 213 488 488 T 1 163 2 163 2 t Total no. of codons in cdna seq = 214 ctc ctc start c-t end t-c c-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tag at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 214 last codon in array is ga gag (E) cga (R) tgc (C) ctc (L) ctc (L) cag (Q) gtt (V) gtc (V) cgg (R) gag (E) cga (R) tgc (C) ccc (P) agg (R) ttg (L) tcc (S) original frameshift length = 7 frameshift length = 7 frameshifted sequence: ccc (P) agg (R) ttg (L) tcc (S) gga (G) gcc (A) tag (TER) wild type sequence in deletion region: ctc (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ctc (L) final frameshift length = 7 163 L 169 * 7 kidney VHL 2 c.498_498delC p.R167fs*3 length of cdnaseq = 642 length of protseq = 213 498 498 C 1 166 3 166 3 c Total no. of codons in cdna seq = 214 gtc gtc start t-c post c end c-c gt- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tag at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 214 last codon in array is ga ctc (L) cag (Q) gtt (V) gtc (V) gtc (V) cgg (R) agc (S) cta (L) gtc (V) ctc (L) cag (Q) gtt (V) gtc (V) gga (G) gcc (A) tag (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gtc (V) gga (G) gcc (A) tag (TER) wild type sequence in deletion region: gtc (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gtc (V) gtc (V) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 3 167 R 169 * 3 kidney VHL 2 c.514delC p.P172fs*30 length of cdnaseq = 642 length of protseq = 213 514 514 C 1 172 1 172 1 c Total no. of codons in cdna seq = 214 cct cct prev g start g-c end c-c --- -ct frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga cta (L) gtc (V) aag (K) cct (P) cct (P) gag (E) aat (N) tac (Y) agg (R) cta (L) gtc (V) aag (K) ctg (L) aga (R) att (I) aca (T) original frameshift length = 30 frameshift length = 30 frameshifted sequence: ctg (L) aga (R) att (I) aca (T) gga (G) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 30 172 P 201 * 30 kidney VHL 2 c.520delA p.N174fs*28 length of cdnaseq = 642 length of protseq = 213 520 520 A 1 174 1 174 1 a Total no. of codons in cdna seq = 214 aat aat prev g start g-a end a-a --- -at frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga aag (K) cct (P) gag (E) aat (N) aat (N) tac (Y) agg (R) aga (R) ctg (L) aag (K) cct (P) gag (E) att (I) aca (T) gga (G) gac (D) original frameshift length = 28 frameshift length = 28 frameshifted sequence: att (I) aca (T) gga (G) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: aat (N) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aat (N) final frameshift length = 28 174 N 201 * 28 kidney VHL 2 c.535delG p.D179fs*23 length of cdnaseq = 642 length of protseq = 213 535 535 G 1 179 1 179 1 g Total no. of codons in cdna seq = 214 gac gac prev g start g-g end g-a --- -ac frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga agg (R) aga (R) ctg (L) gac (D) gac (D) atc (I) gtc (V) agg (R) tcg (S) agg (R) aga (R) ctg (L) aca (T) tcg (S) tca (S) ggt (G) original frameshift length = 23 frameshift length = 23 frameshifted sequence: aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: gac (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gac (D) final frameshift length = 23 179 D 201 * 23 kidney VHL 2 c.540delC p.I180fs*22 length of cdnaseq = 642 length of protseq = 213 540 540 C 1 180 3 180 3 c Total no. of codons in cdna seq = 214 atc atc start t-c post g end c-g at- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga aga (R) ctg (L) gac (D) atc (I) atc (I) gtc (V) agg (R) tcg (S) ctc (L) aga (R) ctg (L) gac (D) atg (M) tca (S) ggt (G) cgc (R) original frameshift length = 22 frameshift length = 22 frameshifted sequence: atg (M) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: atc (I) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : atc (I) final frameshift length = 22 180 I 201 * 22 kidney VHL 2 c.587_588delAA p.K196fs*18 length of cdnaseq = 642 length of protseq = 213 587 588 AA 2 196 2 196 3 aa Total no. of codons in cdna seq = 214 aaa aaa start a-a post g end a-g a-- --- frameshift deletion length of cdnaseq after deletion = 640 Total no. of codons in del cdnaseq = 214 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 213 aat (N) gtg (V) cag (Q) aaa (K) aaa (K) gac (D) ctg (L) gag (E) cgg (R) aat (N) gtg (V) cag (Q) aga (R) cct (P) gga (G) gcg (A) original frameshift length = 19 frameshift length = 18 frameshifted sequence: aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: aaa (K) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : aaa (K) final frameshift length = 18 196 K 213 * 18 kidney VHL 3 c.291_291delC p.Y98fs*61 length of cdnaseq = 642 length of protseq = 213 291 291 C 1 97 3 97 3 c Total no. of codons in cdna seq = 214 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gag (E) ccg (P) cag (Q) ccc (P) ccc (P) tac (Y) cca (P) acg (T) ctg (L) gag (E) ccg (P) cag (Q) cct (P) acc (T) caa (Q) cgc (R) original frameshift length = 62 frameshift length = 62 frameshifted sequence: cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 61 98 Y 158 * 61 kidney VHL 3 c.296delC p.P99fs*60 length of cdnaseq = 642 length of protseq = 213 296 296 C 1 99 2 99 2 c Total no. of codons in cdna seq = 214 cca cca start c-c end c-a c-- --a frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cag (Q) ccc (P) tac (Y) cca (P) cca (P) acg (T) ctg (L) ccg (P) cct (P) cag (Q) ccc (P) tac (Y) caa (Q) cgc (R) tgc (C) cgc (R) original frameshift length = 60 frameshift length = 60 frameshifted sequence: caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cca (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 60 99 P 158 * 60 kidney VHL 3 c.320delG p.R107fs*52 length of cdnaseq = 642 length of protseq = 213 320 320 G 1 107 2 107 2 g Total no. of codons in cdna seq = 214 cgc cgc start c-g end g-c c-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ggc (G) acg (T) ggc (G) cgc (R) cgc (R) cgc (R) atc (I) cac (H) agc (S) ggc (G) acg (T) ggc (G) ccc (P) gca (A) tcc (S) aca (T) original frameshift length = 52 frameshift length = 52 frameshifted sequence: ccc (P) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 52 107 R 158 * 52 kidney VHL 3 c.395_395delA p.T133fs*26 length of cdnaseq = 642 length of protseq = 213 395 395 A 1 132 2 132 2 a Total no. of codons in cdna seq = 214 caa caa start c-a end a-a c-- --a frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ctg (L) gtt (V) aac (N) caa (Q) caa (Q) act (T) gaa (E) tta (L) ttt (F) ctg (L) gtt (V) aac (N) caa (Q) ctg (L) aat (N) tat (Y) original frameshift length = 27 frameshift length = 27 frameshifted sequence: caa (Q) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: caa (Q) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: caa (Q) caa (Q) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 26 133 T 158 * 26 kidney VHL 3 c.404delT p.L135fs*24 length of cdnaseq = 642 length of protseq = 213 404 404 T 1 135 2 135 2 t Total no. of codons in cdna seq = 214 tta tta start t-t end t-a t-- --a frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga caa (Q) act (T) gaa (E) tta (L) tta (L) ttt (F) gtg (V) cca (P) tct (S) caa (Q) act (T) gaa (E) tat (Y) ttg (L) tgc (C) cat (H) original frameshift length = 24 frameshift length = 24 frameshifted sequence: tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 24 135 L 158 * 24 kidney VHL 3 c.405delA p.L135fs*24 length of cdnaseq = 642 length of protseq = 213 405 405 A 1 135 3 135 3 a Total no. of codons in cdna seq = 214 tta tta start t-a post t end a-t tt- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga caa (Q) act (T) gaa (E) tta (L) tta (L) ttt (F) gtg (V) cca (P) tct (S) caa (Q) act (T) gaa (E) ttt (F) ttg (L) tgc (C) cat (H) original frameshift length = 24 frameshift length = 24 frameshifted sequence: ttt (F) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: tta (L) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tta (L) final frameshift length = 24 135 L 158 * 24 kidney VHL 3 c.408delT p.F136fs*23 length of cdnaseq = 642 length of protseq = 213 408 408 T 1 136 3 136 3 t Total no. of codons in cdna seq = 214 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga act (T) gaa (E) tta (L) ttt (F) ttt (F) gtg (V) cca (P) tct (S) ctc (L) act (T) gaa (E) tta (L) ttg (L) tgc (C) cat (H) ctc (L) original frameshift length = 23 frameshift length = 23 frameshifted sequence: ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 23 136 F 158 * 23 kidney VHL 3 c.431delG p.G144fs*15 length of cdnaseq = 642 length of protseq = 213 431 431 G 1 144 2 144 2 g Total no. of codons in cdna seq = 214 gga gga start g-g end g-a g-- --a frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga aat (N) gtt (V) gac (D) gga (G) gga (G) cag (Q) cct (P) att (I) ttt (F) aat (N) gtt (V) gac (D) gac (D) agc (S) cta (L) ttt (F) original frameshift length = 15 frameshift length = 15 frameshifted sequence: gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gga (G) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 15 144 G 158 * 15 kidney VHL 3 c.440_440delT p.F148fs*11 length of cdnaseq = 642 length of protseq = 213 440 440 T 1 147 2 147 2 t Total no. of codons in cdna seq = 214 att att start a-t end t-t a-- --t frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga gga (G) cag (Q) cct (P) att (I) att (I) ttt (F) gcc (A) aat (N) atc (I) gga (G) cag (Q) cct (P) att (I) ttg (L) cca (P) ata (I) original frameshift length = 12 frameshift length = 12 frameshifted sequence: att (I) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: att (I) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: att (I) att (I) first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 11 148 F 158 * 11 kidney VHL 3 c.469delA p.T157fs*2 length of cdnaseq = 642 length of protseq = 213 469 469 A 1 157 1 157 1 a Total no. of codons in cdna seq = 214 act act prev t start t-a end a-c --- -ct frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cca (P) gtg (V) tat (Y) act (T) act (T) ctg (L) aaa (K) gag (E) cga (R) cca (P) gtg (V) tat (Y) ctc (L) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: ctc (L) tga (TER) wild type sequence in deletion region: act (T) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 2 157 T 158 * 2 kidney VHL 3 c.501_501delG p.S168fs*2 length of cdnaseq = 642 length of protseq = 213 501 501 G 1 167 3 167 3 g Total no. of codons in cdna seq = 214 cgg cgg start g-g post a end g-a cg- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tag at posn 169 Protein length after deletion = 168 Total no. of codons in del cdnaseq = 214 last codon in array is ga cag (Q) gtt (V) gtc (V) cgg (R) cgg (R) agc (S) cta (L) gtc (V) aag (K) cag (Q) gtt (V) gtc (V) cga (R) gcc (A) tag (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: cga (R) gcc (A) tag (TER) wild type sequence in deletion region: cgg (R) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: cgg (R) cga (R) first wt aa affected by frameshift deletion is : agc (S) final frameshift length = 2 168 S 169 * 2 kidney VHL 3 c.524delA p.Y175fs*27 length of cdnaseq = 642 length of protseq = 213 524 524 A 1 175 2 175 2 a Total no. of codons in cdna seq = 214 tac tac start t-a end a-c t-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga cct (P) gag (E) aat (N) tac (Y) tac (Y) agg (R) aga (R) ctg (L) gac (D) cct (P) gag (E) aat (N) tca (S) gga (G) gac (D) tgg (W) original frameshift length = 27 frameshift length = 27 frameshifted sequence: tca (S) gga (G) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 27 175 Y 201 * 27 kidney VHL 3 c.554delA p.Y185fs*17 length of cdnaseq = 642 length of protseq = 213 554 554 A 1 185 2 185 2 a Total no. of codons in cdna seq = 214 tac tac start t-a end a-c t-- --c frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga agg (R) tcg (S) ctc (L) tac (Y) tac (Y) gaa (E) gat (D) ctg (L) gaa (E) agg (R) tcg (S) ctc (L) tcg (S) aag (K) atc (I) tgg (W) original frameshift length = 17 frameshift length = 17 frameshifted sequence: tcg (S) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 17 185 Y 201 * 17 kidney VHL 3 c.559_560delGA p.D187fs*27 length of cdnaseq = 642 length of protseq = 213 559 560 GA 2 187 1 187 2 ga Total no. of codons in cdna seq = 214 gat gat prev a start a-g end a-t --- --t frameshift deletion length of cdnaseq after deletion = 640 Total no. of codons in del cdnaseq = 214 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 213 ctc (L) tac (Y) gaa (E) gat (D) gat (D) ctg (L) gaa (E) gac (D) cac (H) ctc (L) tac (Y) gaa (E) tct (S) gga (G) aga (R) cca (P) original frameshift length = 28 frameshift length = 27 frameshifted sequence: tct (S) gga (G) aga (R) cca (P) ccc (P) aaa (K) tgt (C) gca (A) gaa (E) aga (R) cct (P) gga (G) gcg (A) gct (A) gac (D) aca (T) gga (G) gcg (A) cat (H) tgc (C) aca (T) tca (S) acg (T) gat (D) ggg (G) aga (R) ttg (L) a (end) wild type sequence in deletion region: gat (D) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gat (D) final frameshift length = 27 187 D 213 * 27 kidney VHL 4 c.166delG p.A56fs*11 length of cdnaseq = 642 length of protseq = 213 166 166 G 1 56 1 56 1 g Total no. of codons in cdna seq = 214 gcc gcc prev g start g-g end g-c --- -cc frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga gag (E) atg (M) gag (E) gcc (A) gcc (A) ggg (G) cgg (R) ccg (P) cgg (R) gag (E) atg (M) gag (E) ccg (P) ggc (G) ggc (G) cgc (R) original frameshift length = 11 frameshift length = 11 frameshifted sequence: ccg (P) ggc (G) ggc (G) cgc (R) ggc (G) ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: gcc (A) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 11 56 A 66 * 11 kidney VHL 4 c.381_381delG p.L128fs*31 length of cdnaseq = 642 length of protseq = 213 381 381 G 1 127 3 127 3 g Total no. of codons in cdna seq = 214 ggg ggg start g-g post c end g-c gg- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga aca (T) cac (H) gat (D) ggg (G) ggg (G) ctt (L) ctg (L) gtt (V) aac (N) aca (T) cac (H) gat (D) ggc (G) ttc (F) tgg (W) tta (L) original frameshift length = 32 frameshift length = 32 frameshifted sequence: ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ggg (G) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ggg (G) ggc (G) first wt aa affected by frameshift deletion is : ctt (L) final frameshift length = 31 128 L 158 * 31 kidney VHL 4 c.426_429delTGAC p.G144fs*14 length of cdnaseq = 642 length of protseq = 213 426 429 TGAC 4 142 3 143 3 tgac Total no. of codons in cdna seq = 214 gtt gac start t-t post g end c-g gt- --- frameshift deletion length of cdnaseq after deletion = 638 ter codon is tga at posn 157 Protein length after deletion = 156 Total no. of codons in del cdnaseq = 213 last codon in array is ga tct (S) ctc (L) aat (N) gtt (V) gac (D) gga (G) cag (Q) cct (P) att (I) tct (S) ctc (L) aat (N) gtg (V) gac (D) agc (S) cta (L) original frameshift length = 16 frameshift length = 16 frameshifted sequence: gtg (V) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: gtt (V) gac (D) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gtt (V) gtg (V) matching aa in delstart region of wt and deletion mutant: gac (D) gac (D) first wt aa affected by frameshift deletion is : gga (G) final frameshift length = 14 144 G 157 * 14 kidney VHL 4 c.467_467delA p.Y156fs*3 length of cdnaseq = 642 length of protseq = 213 467 467 A 1 156 2 156 2 a Total no. of codons in cdna seq = 214 tat tat start t-a end a-t t-- --t frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga ctg (L) cca (P) gtg (V) tat (Y) tat (Y) act (T) ctg (L) aaa (K) gag (E) ctg (L) cca (P) gtg (V) tta (L) ctc (L) tga (TER) --- ( ) original frameshift length = 3 frameshift length = 3 frameshifted sequence: tta (L) ctc (L) tga (TER) wild type sequence in deletion region: tat (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tat (Y) final frameshift length = 3 156 Y 158 * 3 kidney VHL 4 c.515delC p.P172fs*30 length of cdnaseq = 642 length of protseq = 213 515 515 C 1 172 2 172 2 c Total no. of codons in cdna seq = 214 cct cct start c-c end c-t c-- --t frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga cta (L) gtc (V) aag (K) cct (P) cct (P) gag (E) aat (N) tac (Y) agg (R) cta (L) gtc (V) aag (K) ctg (L) aga (R) att (I) aca (T) original frameshift length = 30 frameshift length = 30 frameshifted sequence: ctg (L) aga (R) att (I) aca (T) gga (G) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: cct (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 30 172 P 201 * 30 kidney VHL 4 c.523delT p.Y175fs*27 length of cdnaseq = 642 length of protseq = 213 523 523 T 1 175 1 175 1 t Total no. of codons in cdna seq = 214 tac tac prev t start t-t end t-a --- -ac frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 201 Protein length after deletion = 200 Total no. of codons in del cdnaseq = 214 last codon in array is ga cct (P) gag (E) aat (N) tac (Y) tac (Y) agg (R) aga (R) ctg (L) gac (D) cct (P) gag (E) aat (N) aca (T) gga (G) gac (D) tgg (W) original frameshift length = 27 frameshift length = 27 frameshifted sequence: aca (T) gga (G) gac (D) tgg (W) aca (T) tcg (S) tca (S) ggt (G) cgc (R) tct (S) acg (T) aag (K) atc (I) tgg (W) aag (K) acc (T) acc (T) caa (Q) atg (M) tgc (C) aga (R) aag (K) acc (T) tgg (W) agc (S) ggc (G) tga (TER) wild type sequence in deletion region: tac (Y) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tac (Y) final frameshift length = 27 175 Y 201 * 27 kidney VHL 5 c.183_183delC p.V62fs*5 length of cdnaseq = 642 length of protseq = 213 183 183 C 1 61 3 61 3 c Total no. of codons in cdna seq = 214 ccc ccc start c-c post g end c-g cc- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 66 Protein length after deletion = 65 Total no. of codons in del cdnaseq = 214 last codon in array is ga cgg (R) ccg (P) cgg (R) ccc (P) ccc (P) gtg (V) ctg (L) cgc (R) tcg (S) cgg (R) ccg (P) cgg (R) ccg (P) tgc (C) tgc (C) gct (A) original frameshift length = 6 frameshift length = 6 frameshifted sequence: ccg (P) tgc (C) tgc (C) gct (A) cgg (R) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccg (P) first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 5 62 V 66 * 5 kidney VHL 6 c.213_213delC p.S72fs*87 length of cdnaseq = 642 length of protseq = 213 213 213 C 1 71 3 71 3 c Total no. of codons in cdna seq = 214 ccc ccc start c-c post t end c-t cc- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga tcg (S) cgc (R) gag (E) ccc (P) ccc (P) tcc (S) cag (Q) gtc (V) atc (I) tcg (S) cgc (R) gag (E) cct (P) ccc (P) agg (R) tca (S) original frameshift length = 88 frameshift length = 88 frameshifted sequence: cct (P) ccc (P) agg (R) tca (S) tct (S) tct (S) gca (A) atc (I) gca (A) gtc (V) cgc (R) gcg (A) tcg (S) tgc (C) tgc (C) ccg (P) tat (Y) ggc (G) tca (S) act (T) tcg (S) acg (T) gcg (A) agc (S) cgc (R) agc (S) cct (P) acc (T) caa (Q) cgc (R) tgc (C) cgc (R) ctg (L) gca (A) cgg (R) gcc (A) gcc (A) gca (A) tcc (S) aca (T) gct (A) acc (T) gag (E) gtc (V) acc (T) ttt (F) ggc (G) tct (S) tca (S) gag (E) atg (M) cag (Q) gga (G) cac (H) acg (T) atg (M) ggc (G) ttc (F) tgg (W) tta (L) acc (T) aaa (K) ctg (L) aat (N) tat (Y) ttg (L) tgc (C) cat (H) ctc (L) tca (S) atg (M) ttg (L) acg (T) gac (D) agc (S) cta (L) ttt (F) ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) cct (P) first wt aa affected by frameshift deletion is : tcc (S) final frameshift length = 87 72 S 158 * 87 kidney VHL 9 c.444delT p.F148fs*11 length of cdnaseq = 642 length of protseq = 213 444 444 T 1 148 3 148 3 t Total no. of codons in cdna seq = 214 ttt ttt start t-t post g end t-g tt- --- frameshift deletion length of cdnaseq after deletion = 641 ter codon is tga at posn 158 Protein length after deletion = 157 Total no. of codons in del cdnaseq = 214 last codon in array is ga cag (Q) cct (P) att (I) ttt (F) ttt (F) gcc (A) aat (N) atc (I) aca (T) cag (Q) cct (P) att (I) ttg (L) cca (P) ata (I) tca (S) original frameshift length = 11 frameshift length = 11 frameshifted sequence: ttg (L) cca (P) ata (I) tca (S) cac (H) tgc (C) cag (Q) tgt (C) ata (I) ctc (L) tga (TER) wild type sequence in deletion region: ttt (F) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ttt (F) final frameshift length = 11 148 F 158 * 11 haematopoietic_and_lymphoid_tissue WT1 1 c.206_209delACTC p.H69fs*20 length of cdnaseq = 1350 length of protseq = 449 206 209 ACTC 4 69 2 70 2 actc Total no. of codons in cdna seq = 450 cac tcc start c-a end c-c c-- --c frameshift deletion length of cdnaseq after deletion = 1346 ter codon is tga at posn 88 Protein length after deletion = 87 Total no. of codons in del cdnaseq = 449 last codon in array is ga ccg (P) ccg (P) cct (P) cac (H) tcc (S) ttc (F) atc (I) aaa (K) cag (Q) ccg (P) ccg (P) cct (P) cct (P) tca (S) tca (S) aac (N) original frameshift length = 20 frameshift length = 20 frameshifted sequence: cct (P) tca (S) tca (S) aac (N) agg (R) agc (S) cga (R) gct (A) ggg (G) gcg (A) gcg (A) cgg (R) agc (S) cgc (R) acg (T) agg (R) agc (S) agt (S) gcc (A) tga (TER) wild type sequence in deletion region: cac (H) tcc (S) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cac (H) final frameshift length = 20 69 H 88 * 20 haematopoietic_and_lymphoid_tissue WT1 1 c.593_593delC p.P198fs*20 length of cdnaseq = 1350 length of protseq = 449 593 593 C 1 198 2 198 2 c Total no. of codons in cdna seq = 450 ccg ccg start c-c end c-g c-- --g frameshift deletion length of cdnaseq after deletion = 1349 ter codon is tga at posn 217 Protein length after deletion = 216 Total no. of codons in del cdnaseq = 450 last codon in array is ga gtg (V) ccg (P) ccc (P) ccg (P) ccg (P) gtc (V) tat (Y) ggc (G) tgc (C) gtg (V) ccg (P) ccc (P) cgg (R) tct (S) atg (M) gct (A) original frameshift length = 20 frameshift length = 20 frameshifted sequence: cgg (R) tct (S) atg (M) gct (A) gcc (A) aca (T) ccc (P) cca (P) ccg (P) aca (T) gct (A) gca (A) ccg (P) gca (A) gcc (A) agg (R) ctt (L) tgc (C) tgc (C) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 20 198 P 217 * 20 haematopoietic_and_lymphoid_tissue WT1 1 c.898_929del32 p.V300fs*6 length of cdnaseq = 1350 length of protseq = 449 898 929 32 32 300 1 310 2 gtgcgacgtgtgcctggagtagccccgactct Total no. of codons in cdna seq = 450 gtg ctt prev t start t-g end t-t --- --t frameshift deletion length of cdnaseq after deletion = 1318 ter codon is tga at posn 305 Protein length after deletion = 304 Total no. of codons in del cdnaseq = 440 last codon in array is a att (I) cag (Q) gat (D) gtg (V) ctt (L) gta (V) cgg (R) tcg (S) gca (A) att (I) cag (Q) gat (D) tgt (C) acg (T) gtc (V) ggc (G) original frameshift length = 6 frameshift length = 6 frameshifted sequence: tgt (C) acg (T) gtc (V) ggc (G) atc (I) tga (TER) wild type sequence in deletion region: gtg (V) cga (R) cgt (R) gtg (V) cct (P) gga (G) gta (V) gcc (A) ccg (P) act (T) ctt (L) wt frameshift deln region length = 11 first wt aa affected by frameshift deletion is : gtg (V) final frameshift length = 6 300 V 305 * 6 haematopoietic_and_lymphoid_tissue WT1 1 c.900_937del38 p.R301fs*3 length of cdnaseq = 1350 length of protseq = 449 900 937 38 38 300 3 313 1 gcgacgtgtgcctggagtagccccgactcttgtacggt Total no. of codons in cdna seq = 450 gtg tcg start t-g end t-c gt- -cg frameshift deletion length of cdnaseq after deletion = 1312 ter codon is tga at posn 303 Protein length after deletion = 302 Total no. of codons in del cdnaseq = 438 last codon in array is a att (I) cag (Q) gat (D) gtg (V) tcg (S) gca (A) tct (S) gag (E) acc (T) att (I) cag (Q) gat (D) gtc (V) ggc (G) atc (I) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: gtc (V) ggc (G) atc (I) tga (TER) wild type sequence in deletion region: gtg (V) cga (R) cgt (R) gtg (V) cct (P) gga (G) gta (V) gcc (A) ccg (P) act (T) ctt (L) gta (V) cgg (R) tcg (S) wt frameshift deln region length = 14 matching aa in delstart region of wt and deletion mutant: gtg (V) gtc (V) first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 3 301 R 303 * 3 haematopoietic_and_lymphoid_tissue WT1 1 c.901_901delC p.R301fs*6 length of cdnaseq = 1350 length of protseq = 449 901 901 C 1 301 1 301 1 c Total no. of codons in cdna seq = 450 cga cga prev g start g-c end c-g --- -ga frameshift deletion length of cdnaseq after deletion = 1349 ter codon is tag at posn 306 Protein length after deletion = 305 Total no. of codons in del cdnaseq = 450 last codon in array is ga cag (Q) gat (D) gtg (V) cga (R) cga (R) cgt (R) gtg (V) cct (P) gga (G) cag (Q) gat (D) gtg (V) gac (D) gtg (V) tgc (C) ctg (L) original frameshift length = 6 frameshift length = 6 frameshifted sequence: gac (D) gtg (V) tgc (C) ctg (L) gag (E) tag (TER) wild type sequence in deletion region: cga (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cga (R) final frameshift length = 6 301 R 306 * 6 haematopoietic_and_lymphoid_tissue WT1 1 c.904_904delC p.R302fs*5 length of cdnaseq = 1350 length of protseq = 449 904 904 C 1 302 1 302 1 c Total no. of codons in cdna seq = 450 cgt cgt prev a start a-c end c-g --- -gt frameshift deletion length of cdnaseq after deletion = 1349 ter codon is tag at posn 306 Protein length after deletion = 305 Total no. of codons in del cdnaseq = 450 last codon in array is ga gat (D) gtg (V) cga (R) cgt (R) cgt (R) gtg (V) cct (P) gga (G) gta (V) gat (D) gtg (V) cga (R) gtg (V) tgc (C) ctg (L) gag (E) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gtg (V) tgc (C) ctg (L) gag (E) tag (TER) wild type sequence in deletion region: cgt (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 5 302 R 306 * 5 haematopoietic_and_lymphoid_tissue WT1 1 c.920_932del13 p.A307fs*70 length of cdnaseq = 1350 length of protseq = 449 920 932 13 13 307 2 311 2 ccccgactcttgt Total no. of codons in cdna seq = 450 gcc gta start g-c end t-a g-- --a frameshift deletion length of cdnaseq after deletion = 1337 ter codon is tga at posn 376 Protein length after deletion = 375 Total no. of codons in del cdnaseq = 446 last codon in array is ga cct (P) gga (G) gta (V) gcc (A) gta (V) cgg (R) tcg (S) gca (A) tct (S) cct (P) gga (G) gta (V) gac (D) ggt (G) cgg (R) cat (H) original frameshift length = 70 frameshift length = 70 frameshifted sequence: gac (D) ggt (G) cgg (R) cat (H) ctg (L) aga (R) cca (P) gtg (V) aga (R) aac (N) gcc (A) cct (P) tca (S) tgt (C) gtg (V) ctt (L) acc (T) cag (Q) gct (A) gca (A) ata (I) aga (R) gat (D) att (I) tta (L) agc (S) tgt (C) ccc (P) act (T) tac (Y) aga (R) tgc (C) aca (T) gca (A) gga (G) agc (S) aca (T) ctg (L) gtg (V) aga (R) aac (N) cat (H) acc (T) agt (S) gtg (V) act (T) tca (S) agg (R) act (T) gtg (V) aac (N) gaa (E) ggt (G) ttt (F) ctc (L) gtt (V) cag (Q) acc (T) agc (S) tca (S) aaa (K) gac (D) acc (T) aaa (K) gga (G) gac (D) ata (I) cag (Q) gtg (V) tga (TER) wild type sequence in deletion region: gcc (A) ccg (P) act (T) ctt (L) gta (V) wt frameshift deln region length = 5 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 70 307 A 376 * 70 haematopoietic_and_lymphoid_tissue WT1 1 c.924_927delGACT p.T309fs*71 length of cdnaseq = 1350 length of protseq = 449 924 927 GACT 4 308 3 309 3 gact Total no. of codons in cdna seq = 450 ccg act start c-g post c end t-c cc- --- frameshift deletion length of cdnaseq after deletion = 1346 ter codon is tga at posn 379 Protein length after deletion = 378 Total no. of codons in del cdnaseq = 449 last codon in array is ga gga (G) gta (V) gcc (A) ccg (P) act (T) ctt (L) gta (V) cgg (R) tcg (S) gga (G) gta (V) gcc (A) ccc (P) ttg (L) tac (Y) ggt (G) original frameshift length = 72 frameshift length = 72 frameshifted sequence: ccc (P) ttg (L) tac (Y) ggt (G) cgg (R) cat (H) ctg (L) aga (R) cca (P) gtg (V) aga (R) aac (N) gcc (A) cct (P) tca (S) tgt (C) gtg (V) ctt (L) acc (T) cag (Q) gct (A) gca (A) ata (I) aga (R) gat (D) att (I) tta (L) agc (S) tgt (C) ccc (P) act (T) tac (Y) aga (R) tgc (C) aca (T) gca (A) gga (G) agc (S) aca (T) ctg (L) gtg (V) aga (R) aac (N) cat (H) acc (T) agt (S) gtg (V) act (T) tca (S) agg (R) act (T) gtg (V) aac (N) gaa (E) ggt (G) ttt (F) ctc (L) gtt (V) cag (Q) acc (T) agc (S) tca (S) aaa (K) gac (D) acc (T) aaa (K) gga (G) gac (D) ata (I) cag (Q) gtg (V) tga (TER) wild type sequence in deletion region: ccg (P) act (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: ccg (P) ccc (P) first wt aa affected by frameshift deletion is : act (T) final frameshift length = 71 309 T 379 * 71 haematopoietic_and_lymphoid_tissue WT1 1 c.926_945del20 p.T309fs*4 length of cdnaseq = 1350 length of protseq = 449 926 945 20 20 309 2 315 3 ctcttgtacggtcggcatct Total no. of codons in cdna seq = 450 act tct start a-c post g end t-g a-- --- frameshift deletion length of cdnaseq after deletion = 1330 ter codon is tga at posn 312 Protein length after deletion = 311 Total no. of codons in del cdnaseq = 444 last codon in array is a gta (V) gcc (A) ccg (P) act (T) tct (S) gag (E) acc (T) agt (S) gag (E) gta (V) gcc (A) ccg (P) aga (R) gac (D) cag (Q) tga (TER) original frameshift length = 4 frameshift length = 4 frameshifted sequence: aga (R) gac (D) cag (Q) tga (TER) wild type sequence in deletion region: act (T) ctt (L) gta (V) cgg (R) tcg (S) gca (A) tct (S) wt frameshift deln region length = 7 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 4 309 T 312 * 4 haematopoietic_and_lymphoid_tissue WT1 1 c.940_946delGCATCTG p.A314fs*65 length of cdnaseq = 1350 length of protseq = 449 940 946 GCATCTG 7 314 1 316 1 gcatctg Total no. of codons in cdna seq = 450 gca gag prev g start g-g end g-a --- -ag frameshift deletion length of cdnaseq after deletion = 1343 ter codon is tga at posn 378 Protein length after deletion = 377 Total no. of codons in del cdnaseq = 448 last codon in array is ga gta (V) cgg (R) tcg (S) gca (A) gag (E) acc (T) agt (S) gag (E) aaa (K) gta (V) cgg (R) tcg (S) aga (R) cca (P) gtg (V) aga (R) original frameshift length = 65 frameshift length = 65 frameshifted sequence: aga (R) cca (P) gtg (V) aga (R) aac (N) gcc (A) cct (P) tca (S) tgt (C) gtg (V) ctt (L) acc (T) cag (Q) gct (A) gca (A) ata (I) aga (R) gat (D) att (I) tta (L) agc (S) tgt (C) ccc (P) act (T) tac (Y) aga (R) tgc (C) aca (T) gca (A) gga (G) agc (S) aca (T) ctg (L) gtg (V) aga (R) aac (N) cat (H) acc (T) agt (S) gtg (V) act (T) tca (S) agg (R) act (T) gtg (V) aac (N) gaa (E) ggt (G) ttt (F) ctc (L) gtt (V) cag (Q) acc (T) agc (S) tca (S) aaa (K) gac (D) acc (T) aaa (K) gga (G) gac (D) ata (I) cag (Q) gtg (V) tga (TER) wild type sequence in deletion region: gca (A) tct (S) gag (E) wt frameshift deln region length = 3 first wt aa affected by frameshift deletion is : gca (A) final frameshift length = 65 314 A 378 * 65 kidney WT1 1 c.1093_1093delT p.S365fs*16 length of cdnaseq = 1350 length of protseq = 449 1093 1093 T 1 365 1 365 1 t Total no. of codons in cdna seq = 450 tct tct prev t start t-t end t-c --- -ct frameshift deletion length of cdnaseq after deletion = 1349 ter codon is tga at posn 380 Protein length after deletion = 379 Total no. of codons in del cdnaseq = 450 last codon in array is ga cga (R) agg (R) ttt (F) tct (S) tct (S) cgt (R) tca (S) gac (D) cag (Q) cga (R) agg (R) ttt (F) ctc (L) gtt (V) cag (Q) acc (T) original frameshift length = 16 frameshift length = 16 frameshifted sequence: ctc (L) gtt (V) cag (Q) acc (T) agc (S) tca (S) aaa (K) gac (D) acc (T) aaa (K) gga (G) gac (D) ata (I) cag (Q) gtg (V) tga (TER) wild type sequence in deletion region: tct (S) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : tct (S) final frameshift length = 16 365 S 380 * 16 kidney WT1 1 c.1297_1298delCG p.R433fs*18 length of cdnaseq = 1350 length of protseq = 449 1297 1298 CG 2 433 1 433 2 cg Total no. of codons in cdna seq = 450 cgc cgc prev c start c-c end g-c --- --c frameshift deletion length of cdnaseq after deletion = 1348 Total no. of codons in del cdnaseq = 450 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 449 gaa (E) tta (L) gtc (V) cgc (R) cgc (R) cat (H) cac (H) aac (N) atg (M) gaa (E) tta (L) gtc (V) cca (P) tca (S) caa (Q) cat (H) original frameshift length = 18 frameshift length = 17 frameshifted sequence: cca (P) tca (S) caa (Q) cat (H) gca (A) tca (S) gag (E) aaa (K) cat (H) gac (D) caa (Q) act (T) cca (P) gct (A) ggc (G) gct (A) ttg (L) a (end) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 17 433 R 450 * 18 kidney WT1 1 c.1298_1299delGC p.R433fs*18 length of cdnaseq = 1350 length of protseq = 449 1298 1299 GC 2 433 2 433 3 gc Total no. of codons in cdna seq = 450 cgc cgc start c-g post c end c-c c-- --- frameshift deletion length of cdnaseq after deletion = 1348 Total no. of codons in del cdnaseq = 450 last codon in array is a No ter codons in deleted sequence Protein length after deletion = 449 gaa (E) tta (L) gtc (V) cgc (R) cgc (R) cat (H) cac (H) aac (N) atg (M) gaa (E) tta (L) gtc (V) cca (P) tca (S) caa (Q) cat (H) original frameshift length = 18 frameshift length = 17 frameshifted sequence: cca (P) tca (S) caa (Q) cat (H) gca (A) tca (S) gag (E) aaa (K) cat (H) gac (D) caa (Q) act (T) cca (P) gct (A) ggc (G) gct (A) ttg (L) a (end) wild type sequence in deletion region: cgc (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgc (R) final frameshift length = 17 433 R 450 * 18 kidney WT1 1 c.168_168delG p.P57fs*33 length of cdnaseq = 1350 length of protseq = 449 168 168 G 1 56 3 56 3 g Total no. of codons in cdna seq = 450 ccg ccg start c-g post c end g-c cc- --- frameshift deletion length of cdnaseq after deletion = 1349 ter codon is tga at posn 89 Protein length after deletion = 88 Total no. of codons in del cdnaseq = 450 last codon in array is ga ggc (G) ccc (P) gcg (A) ccg (P) ccg (P) cca (P) ccg (P) gct (A) ccg (P) ggc (G) ccc (P) gcg (A) ccc (P) cac (H) cgg (R) ctc (L) original frameshift length = 34 frameshift length = 34 frameshifted sequence: ccc (P) cac (H) cgg (R) ctc (L) cgc (R) cgc (R) cac (H) ccc (P) cgc (R) cgc (R) cgc (R) cgc (R) ctc (L) act (T) cct (P) tca (S) tca (S) aac (N) agg (R) agc (S) cga (R) gct (A) ggg (G) gcg (A) gcg (A) cgg (R) agc (S) cgc (R) acg (T) agg (R) agc (S) agt (S) gcc (A) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccg (P) ccc (P) first wt aa affected by frameshift deletion is : cca (P) final frameshift length = 33 57 P 89 * 33 kidney WT1 1 c.231_264del34 p.W78fs*1 length of cdnaseq = 1350 length of protseq = 449 231 264 34 34 77 3 88 3 ctggggcggcgcggagccgcacgaggagcagtgc Total no. of codons in cdna seq = 450 agc tgc start g-c post c end c-c ag- --- frameshift deletion length of cdnaseq after deletion = 1316 ter codon is tga at posn 78 Protein length after deletion = 77 Total no. of codons in del cdnaseq = 439 last codon in array is ga cag (Q) gag (E) ccg (P) agc (S) tgc (C) ctg (L) agc (S) gcc (A) ttc (F) cag (Q) gag (E) ccg (P) agc (S) tga (TER) --- ( ) --- ( ) original frameshift length = 2 frameshift length = 2 frameshifted sequence: agc (S) tga (TER) wild type sequence in deletion region: agc (S) tgg (W) ggc (G) ggc (G) gcg (A) gag (E) ccg (P) cac (H) gag (E) gag (E) cag (Q) tgc (C) wt frameshift deln region length = 12 matching aa in delstart region of wt and deletion mutant: agc (S) agc (S) first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 1 78 W 78 * 1 kidney WT1 1 c.345_363del19 p.P117fs*95 length of cdnaseq = 1350 length of protseq = 449 345 363 19 19 115 3 121 3 tccgcccagccaggcgtca Total no. of codons in cdna seq = 450 cct tca start c-t post t end a-t cc- --- frameshift deletion length of cdnaseq after deletion = 1331 ter codon is tga at posn 211 Protein length after deletion = 210 Total no. of codons in del cdnaseq = 444 last codon in array is ga ttc (F) ggt (G) cct (P) cct (P) tca (S) tcc (S) ggc (G) cag (Q) gcc (A) ttc (F) ggt (G) cct (P) cct (P) ccg (P) gcc (A) agg (R) original frameshift length = 97 frameshift length = 97 frameshifted sequence: cct (P) ccg (P) gcc (A) agg (R) cca (P) gga (G) tgt (C) ttc (F) cta (L) acg (T) cgc (R) cct (P) acc (T) tgc (C) cca (P) gct (A) gcc (A) tcg (S) aga (R) gcc (A) agc (S) ccg (P) cta (L) ttc (F) gca (A) atc (I) agg (R) gtt (V) aca (T) gca (A) cgg (R) tca (S) cct (P) tcg (S) acg (T) gga (G) cgc (R) cca (P) gct (A) acg (T) gtc (V) aca (T) cgc (R) cct (P) cgc (R) acc (T) atg (M) cgg (R) cgc (R) agt (S) tcc (S) cca (P) acc (T) act (T) cat (H) tca (S) agc (S) atg (M) agg (R) atc (I) cca (P) tgg (W) gcc (A) agc (S) agg (R) gct (A) cgc (R) tgg (W) gtg (V) agc (S) agc (S) agt (S) act (T) cgg (R) tgc (C) cgc (R) ccc (P) cgg (R) tct (S) atg (M) gct (A) gcc (A) aca (T) ccc (P) cca (P) ccg (P) aca (T) gct (A) gca (A) ccg (P) gca (A) gcc (A) agg (R) ctt (L) tgc (C) tgc (C) tga (TER) wild type sequence in deletion region: cct (P) ccg (P) ccc (P) agc (S) cag (Q) gcg (A) tca (S) wt frameshift deln region length = 7 matching aa in delstart region of wt and deletion mutant: cct (P) cct (P) matching aa in delstart region of wt and deletion mutant: ccg (P) ccg (P) first wt aa affected by frameshift deletion is : ccc (P) final frameshift length = 95 117 P 211 * 95 kidney WT1 1 c.372_376delGGCCA p.A125fs*4 length of cdnaseq = 1350 length of protseq = 449 372 376 GGCCA 5 124 3 126 1 ggcca Total no. of codons in cdna seq = 450 cag agg start a-g end a-g ca- -gg frameshift deletion length of cdnaseq after deletion = 1345 ter codon is taa at posn 128 Protein length after deletion = 127 Total no. of codons in del cdnaseq = 449 last codon in array is a tca (S) tcc (S) ggc (G) cag (Q) agg (R) atg (M) ttt (F) cct (P) aac (N) tca (S) tcc (S) ggc (G) cag (Q) gat (D) gtt (V) tcc (S) original frameshift length = 5 frameshift length = 5 frameshifted sequence: cag (Q) gat (D) gtt (V) tcc (S) taa (TER) wild type sequence in deletion region: cag (Q) gcc (A) agg (R) wt frameshift deln region length = 3 matching aa in delstart region of wt and deletion mutant: cag (Q) cag (Q) first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 4 125 A 128 * 4 kidney WT1 1 c.440_440delA p.Q147fs*71 length of cdnaseq = 1350 length of protseq = 449 440 440 A 1 147 2 147 2 a Total no. of codons in cdna seq = 450 cag cag start c-a end a-g c-- --g frameshift deletion length of cdnaseq after deletion = 1349 ter codon is tga at posn 217 Protein length after deletion = 216 Total no. of codons in del cdnaseq = 450 last codon in array is ga att (I) cgc (R) aat (N) cag (Q) cag (Q) ggt (G) tac (Y) agc (S) acg (T) att (I) cgc (R) aat (N) cgg (R) gtt (V) aca (T) gca (A) original frameshift length = 71 frameshift length = 71 frameshifted sequence: cgg (R) gtt (V) aca (T) gca (A) cgg (R) tca (S) cct (P) tcg (S) acg (T) gga (G) cgc (R) cca (P) gct (A) acg (T) gtc (V) aca (T) cgc (R) cct (P) cgc (R) acc (T) atg (M) cgg (R) cgc (R) agt (S) tcc (S) cca (P) acc (T) act (T) cat (H) tca (S) agc (S) atg (M) agg (R) atc (I) cca (P) tgg (W) gcc (A) agc (S) agg (R) gct (A) cgc (R) tgg (W) gtg (V) agc (S) agc (S) agt (S) act (T) cgg (R) tgc (C) cgc (R) ccc (P) cgg (R) tct (S) atg (M) gct (A) gcc (A) aca (T) ccc (P) cca (P) ccg (P) aca (T) gct (A) gca (A) ccg (P) gca (A) gcc (A) agg (R) ctt (L) tgc (C) tgc (C) tga (TER) wild type sequence in deletion region: cag (Q) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cag (Q) final frameshift length = 71 147 Q 217 * 71 kidney WT1 1 c.442_667del226 p.G148fs*7 length of cdnaseq = 1350 length of protseq = 449 442 667 226 226 148 1 223 1 ggttacagcacggtcaccttcgacgggacgcccagctacggtcacacgccctcgcaccatgcggcgcagttccccaaccactcattcaagcatgaggatcccatgggccagcagggctcgctgggtgagcagcagtactcggtgccgcccccggtctatggctgccacacccccaccgacagctgcaccggcagccaggctttgctgctgaggacgccctacagca Total no. of codons in cdna seq = 450 ggt agt prev g start g-g end a-g --- -gt frameshift deletion length of cdnaseq after deletion = 1124 ter codon is tga at posn 154 Protein length after deletion = 153 Total no. of codons in del cdnaseq = 375 last codon in array is ga cgc (R) aat (N) cag (Q) ggt (G) agt (S) gac (D) aat (N) tta (L) tac (Y) cgc (R) aat (N) cag (Q) gtg (V) aca (T) att (I) tat (Y) original frameshift length = 7 frameshift length = 7 frameshifted sequence: gtg (V) aca (T) att (I) tat (Y) acc (T) aaa (K) tga (TER) wild type sequence in deletion region: ggt (G) tac (Y) agc (S) acg (T) gtc (V) acc (T) ttc (F) gac (D) ggg (G) acg (T) ccc (P) agc (S) tac (Y) ggt (G) cac (H) acg (T) ccc (P) tcg (S) cac (H) cat (H) gcg (A) gcg (A) cag (Q) ttc (F) ccc (P) aac (N) cac (H) tca (S) ttc (F) aag (K) cat (H) gag (E) gat (D) ccc (P) atg (M) ggc (G) cag (Q) cag (Q) ggc (G) tcg (S) ctg (L) ggt (G) gag (E) cag (Q) cag (Q) tac (Y) tcg (S) gtg (V) ccg (P) ccc (P) ccg (P) gtc (V) tat (Y) ggc (G) tgc (C) cac (H) acc (T) ccc (P) acc (T) gac (D) agc (S) tgc (C) acc (T) ggc (G) agc (S) cag (Q) gct (A) ttg (L) ctg (L) ctg (L) agg (R) acg (T) ccc (P) tac (Y) agc (S) agt (S) wt frameshift deln region length = 76 first wt aa affected by frameshift deletion is : ggt (G) final frameshift length = 7 148 G 154 * 7 kidney WT1 1 c.455_459delTCACC p.T153fs*25 length of cdnaseq = 1350 length of protseq = 449 455 459 TCACC 5 152 2 153 3 tcacc Total no. of codons in cdna seq = 450 gtc acc start g-t post t end c-t g-- --- frameshift deletion length of cdnaseq after deletion = 1345 ter codon is tga at posn 177 Protein length after deletion = 176 Total no. of codons in del cdnaseq = 449 last codon in array is a tac (Y) agc (S) acg (T) gtc (V) acc (T) ttc (F) gac (D) ggg (G) acg (T) tac (Y) agc (S) acg (T) gtt (V) cga (R) cgg (R) gac (D) original frameshift length = 26 frameshift length = 26 frameshifted sequence: gtt (V) cga (R) cgg (R) gac (D) gcc (A) cag (Q) cta (L) cgg (R) tca (S) cac (H) gcc (A) ctc (L) gca (A) cca (P) tgc (C) ggc (G) gca (A) gtt (V) ccc (P) caa (Q) cca (P) ctc (L) att (I) caa (Q) gca (A) tga (TER) wild type sequence in deletion region: gtc (V) acc (T) wt frameshift deln region length = 2 matching aa in delstart region of wt and deletion mutant: gtc (V) gtt (V) first wt aa affected by frameshift deletion is : acc (T) final frameshift length = 25 153 T 177 * 25 kidney WT1 1 c.590_590delC p.P198fs*20 length of cdnaseq = 1350 length of protseq = 449 590 590 C 1 197 2 197 2 c Total no. of codons in cdna seq = 450 ccc ccc start c-c end c-c c-- --c frameshift deletion length of cdnaseq after deletion = 1349 ter codon is tga at posn 217 Protein length after deletion = 216 Total no. of codons in del cdnaseq = 450 last codon in array is ga tcg (S) gtg (V) ccg (P) ccc (P) ccc (P) ccg (P) gtc (V) tat (Y) ggc (G) tcg (S) gtg (V) ccg (P) ccc (P) cgg (R) tct (S) atg (M) original frameshift length = 21 frameshift length = 21 frameshifted sequence: ccc (P) cgg (R) tct (S) atg (M) gct (A) gcc (A) aca (T) ccc (P) cca (P) ccg (P) aca (T) gct (A) gca (A) ccg (P) gca (A) gcc (A) agg (R) ctt (L) tgc (C) tgc (C) tga (TER) wild type sequence in deletion region: ccc (P) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: ccc (P) ccc (P) first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 20 198 P 217 * 20 kidney WT1 1 c.711_711delC p.W238fs*4 length of cdnaseq = 1350 length of protseq = 449 711 711 C 1 237 3 237 3 c Total no. of codons in cdna seq = 450 acc acc start c-c post t end c-t ac- --- frameshift deletion length of cdnaseq after deletion = 1349 ter codon is tga at posn 241 Protein length after deletion = 240 Total no. of codons in del cdnaseq = 450 last codon in array is ga gaa (E) tgc (C) atg (M) acc (T) acc (T) tgg (W) aat (N) cag (Q) atg (M) gaa (E) tgc (C) atg (M) act (T) gga (G) atc (I) aga (R) original frameshift length = 5 frameshift length = 5 frameshifted sequence: act (T) gga (G) atc (I) aga (R) tga (TER) wild type sequence in deletion region: acc (T) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: acc (T) act (T) first wt aa affected by frameshift deletion is : tgg (W) final frameshift length = 4 238 W 241 * 4 kidney WT1 1 c.80_83delCTGT p.P27fs*62 length of cdnaseq = 1350 length of protseq = 449 80 83 CTGT 4 27 2 28 2 ctgt Total no. of codons in cdna seq = 450 cct gtg start c-c end t-g c-- --g frameshift deletion length of cdnaseq after deletion = 1346 ter codon is tga at posn 88 Protein length after deletion = 87 Total no. of codons in del cdnaseq = 449 last codon in array is ga tgt (C) gcc (A) ctg (L) cct (P) gtg (V) agc (S) ggc (G) gcg (A) gcg (A) tgt (C) gcc (A) ctg (L) cga (R) gcg (A) gcg (A) cgg (R) original frameshift length = 62 frameshift length = 62 frameshifted sequence: cga (R) gcg (A) gcg (A) cgg (R) cgc (R) agt (S) ggg (G) cgc (R) cgg (R) tgc (C) tgg (W) act (T) ttg (L) cgc (R) ccc (P) cgg (R) gcg (A) ctt (L) cgg (R) ctt (L) acg (T) ggt (G) cgt (R) tgg (W) gcg (A) gcc (A) ccg (P) cgc (R) cgc (R) cac (H) cgg (R) ctc (L) cgc (R) cgc (R) cac (H) ccc (P) cgc (R) cgc (R) cgc (R) cgc (R) ctc (L) act (T) cct (P) tca (S) tca (S) aac (N) agg (R) agc (S) cga (R) gct (A) ggg (G) gcg (A) gcg (A) cgg (R) agc (S) cgc (R) acg (T) agg (R) agc (S) agt (S) gcc (A) tga (TER) wild type sequence in deletion region: cct (P) gtg (V) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : cct (P) final frameshift length = 62 27 P 88 * 62 kidney WT1 1 c.904_904delC p.R302fs*5 length of cdnaseq = 1350 length of protseq = 449 904 904 C 1 302 1 302 1 c Total no. of codons in cdna seq = 450 cgt cgt prev a start a-c end c-g --- -gt frameshift deletion length of cdnaseq after deletion = 1349 ter codon is tag at posn 306 Protein length after deletion = 305 Total no. of codons in del cdnaseq = 450 last codon in array is ga gat (D) gtg (V) cga (R) cgt (R) cgt (R) gtg (V) cct (P) gga (G) gta (V) gat (D) gtg (V) cga (R) gtg (V) tgc (C) ctg (L) gag (E) original frameshift length = 5 frameshift length = 5 frameshifted sequence: gtg (V) tgc (C) ctg (L) gag (E) tag (TER) wild type sequence in deletion region: cgt (R) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : cgt (R) final frameshift length = 5 302 R 306 * 5 kidney WT1 1 c.919_934del16 p.A307fs*69 length of cdnaseq = 1350 length of protseq = 449 919 934 16 16 307 1 312 1 gccccgactcttgtac Total no. of codons in cdna seq = 450 gcc cgg prev a start a-g end c-g --- -gg frameshift deletion length of cdnaseq after deletion = 1334 ter codon is tga at posn 375 Protein length after deletion = 374 Total no. of codons in del cdnaseq = 445 last codon in array is ga cct (P) gga (G) gta (V) gcc (A) cgg (R) tcg (S) gca (A) tct (S) gag (E) cct (P) gga (G) gta (V) ggt (G) cgg (R) cat (H) ctg (L) original frameshift length = 69 frameshift length = 69 frameshifted sequence: ggt (G) cgg (R) cat (H) ctg (L) aga (R) cca (P) gtg (V) aga (R) aac (N) gcc (A) cct (P) tca (S) tgt (C) gtg (V) ctt (L) acc (T) cag (Q) gct (A) gca (A) ata (I) aga (R) gat (D) att (I) tta (L) agc (S) tgt (C) ccc (P) act (T) tac (Y) aga (R) tgc (C) aca (T) gca (A) gga (G) agc (S) aca (T) ctg (L) gtg (V) aga (R) aac (N) cat (H) acc (T) agt (S) gtg (V) act (T) tca (S) agg (R) act (T) gtg (V) aac (N) gaa (E) ggt (G) ttt (F) ctc (L) gtt (V) cag (Q) acc (T) agc (S) tca (S) aaa (K) gac (D) acc (T) aaa (K) gga (G) gac (D) ata (I) cag (Q) gtg (V) tga (TER) wild type sequence in deletion region: gcc (A) ccg (P) act (T) ctt (L) gta (V) cgg (R) wt frameshift deln region length = 6 first wt aa affected by frameshift deletion is : gcc (A) final frameshift length = 69 307 A 375 * 69 haematopoietic_and_lymphoid_tissue WT1 2 c.933_933delA p.R312fs*69 length of cdnaseq = 1350 length of protseq = 449 933 933 A 1 311 3 311 3 a Total no. of codons in cdna seq = 450 gta gta start t-a post c end a-c gt- --- frameshift deletion length of cdnaseq after deletion = 1349 ter codon is tga at posn 380 Protein length after deletion = 379 Total no. of codons in del cdnaseq = 450 last codon in array is ga ccg (P) act (T) ctt (L) gta (V) gta (V) cgg (R) tcg (S) gca (A) tct (S) ccg (P) act (T) ctt (L) gtc (V) ggt (G) cgg (R) cat (H) original frameshift length = 70 frameshift length = 70 frameshifted sequence: gtc (V) ggt (G) cgg (R) cat (H) ctg (L) aga (R) cca (P) gtg (V) aga (R) aac (N) gcc (A) cct (P) tca (S) tgt (C) gtg (V) ctt (L) acc (T) cag (Q) gct (A) gca (A) ata (I) aga (R) gat (D) att (I) tta (L) agc (S) tgt (C) ccc (P) act (T) tac (Y) aga (R) tgc (C) aca (T) gca (A) gga (G) agc (S) aca (T) ctg (L) gtg (V) aga (R) aac (N) cat (H) acc (T) agt (S) gtg (V) act (T) tca (S) agg (R) act (T) gtg (V) aac (N) gaa (E) ggt (G) ttt (F) ctc (L) gtt (V) cag (Q) acc (T) agc (S) tca (S) aaa (K) gac (D) acc (T) aaa (K) gga (G) gac (D) ata (I) cag (Q) gtg (V) tga (TER) wild type sequence in deletion region: gta (V) wt frameshift deln region length = 1 matching aa in delstart region of wt and deletion mutant: gta (V) gtc (V) first wt aa affected by frameshift deletion is : cgg (R) final frameshift length = 69 312 R 380 * 69 kidney WT1 2 c.172_172delC p.P58fs*32 length of cdnaseq = 1350 length of protseq = 449 172 172 C 1 58 1 58 1 c Total no. of codons in cdna seq = 450 ccg ccg prev a start a-c end c-c --- -cg frameshift deletion length of cdnaseq after deletion = 1349 ter codon is tga at posn 89 Protein length after deletion = 88 Total no. of codons in del cdnaseq = 450 last codon in array is ga gcg (A) ccg (P) cca (P) ccg (P) ccg (P) gct (A) ccg (P) ccg (P) cca (P) gcg (A) ccg (P) cca (P) cgg (R) ctc (L) cgc (R) cgc (R) original frameshift length = 32 frameshift length = 32 frameshifted sequence: cgg (R) ctc (L) cgc (R) cgc (R) cac (H) ccc (P) cgc (R) cgc (R) cgc (R) cgc (R) ctc (L) act (T) cct (P) tca (S) tca (S) aac (N) agg (R) agc (S) cga (R) gct (A) ggg (G) gcg (A) gcg (A) cgg (R) agc (S) cgc (R) acg (T) agg (R) agc (S) agt (S) gcc (A) tga (TER) wild type sequence in deletion region: ccg (P) wt frameshift deln region length = 1 first wt aa affected by frameshift deletion is : ccg (P) final frameshift length = 32 58 P 89 * 32 kidney WT1 2 c.925_928delACTC p.T309fs*71 length of cdnaseq = 1350 length of protseq = 449 925 928 ACTC 4 309 1 310 1 actc Total no. of codons in cdna seq = 450 act ctt prev g start g-a end c-t --- -tt frameshift deletion length of cdnaseq after deletion = 1346 ter codon is tga at posn 379 Protein length after deletion = 378 Total no. of codons in del cdnaseq = 449 last codon in array is ga gta (V) gcc (A) ccg (P) act (T) ctt (L) gta (V) cgg (R) tcg (S) gca (A) gta (V) gcc (A) ccg (P) ttg (L) tac (Y) ggt (G) cgg (R) original frameshift length = 71 frameshift length = 71 frameshifted sequence: ttg (L) tac (Y) ggt (G) cgg (R) cat (H) ctg (L) aga (R) cca (P) gtg (V) aga (R) aac (N) gcc (A) cct (P) tca (S) tgt (C) gtg (V) ctt (L) acc (T) cag (Q) gct (A) gca (A) ata (I) aga (R) gat (D) att (I) tta (L) agc (S) tgt (C) ccc (P) act (T) tac (Y) aga (R) tgc (C) aca (T) gca (A) gga (G) agc (S) aca (T) ctg (L) gtg (V) aga (R) aac (N) cat (H) acc (T) agt (S) gtg (V) act (T) tca (S) agg (R) act (T) gtg (V) aac (N) gaa (E) ggt (G) ttt (F) ctc (L) gtt (V) cag (Q) acc (T) agc (S) tca (S) aaa (K) gac (D) acc (T) aaa (K) gga (G) gac (D) ata (I) cag (Q) gtg (V) tga (TER) wild type sequence in deletion region: act (T) ctt (L) wt frameshift deln region length = 2 first wt aa affected by frameshift deletion is : act (T) final frameshift length = 71 309 T 379 * 71 --------------------------------------------------------------------- Supplementary Table 3b - results of the analysis of I-F deletions ----------------------------------------------------------------- large_intestine APC 1 c.2621_2626delCAAAGC p.S874_R876>* length of cdnaseq = 8532 length of protseq = 2843 2621 2626 CAAAGC 6 874 2 876 1 caaagc Total no. of codons in cdna seq = 2844 tca cga start t-c end c-g t-- -ga tga (TER) length of cdnaseq after deletion = 8526 ter codon is tga at posn 874 Protein length after deletion = 873 Total no. of codons in del cdnaseq = 2842 last codon in array is taa act (T) tct (S) tca (S) cga (R) ggt (G) ttg (L) cag (Q) atc (I) act (T) tct (S) tga (TER) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: tca (S) aag (K) cga (R) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : tca (S) 874 S 876 R * large_intestine APC 1 c.4709_4714delATGATA p.D1570_I1572>V length of cdnaseq = 8532 length of protseq = 2843 4709 4714 ATGATA 6 1570 2 1572 1 atgata Total no. of codons in cdna seq = 2844 gat att start g-a end a-t g-- -tt gtt (V) length of cdnaseq after deletion = 8526 ter codon is taa at posn 2842 Protein length after deletion = 2841 Total no. of codons in del cdnaseq = 2842 last codon in array is taa gat (D) gat (D) gat (D) att (I) gaa (E) ata (I) cta (L) gaa (E) gat (D) gat (D) gtt (V) gaa (E) ata (I) cta (L) wild type sequence in deletion region: gat (D) gat (D) att (I) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : gat (D) 1570 D 1572 I V haematopoietic_and_lymphoid_tissue ATM 1 c.3873_3992del120 p.V1292_Q1331del length of cdnaseq = 9171 length of protseq = 3056 3873 3992 120 120 1291 3 1331 2 tgtaaatattcttccttattttgcctatgagggtaccagagacagtgggatggcacagcaaagagagactgctaccaaggtctatgatatgcttaaaagtgaaaacttattgggaaaaca Total no. of codons in cdna seq = 3057 ctt cag start t-t end a-g ct- --g ctg (L) length of cdnaseq after deletion = 9051 ter codon is tga at posn 3017 Protein length after deletion = 3016 Total no. of codons in del cdnaseq = 3017 last codon in array is tga aag (K) att (I) ctt (L) cag (Q) att (I) gat (D) cac (H) tta (L) aag (K) att (I) ctg (L) att (I) gat (D) cac (H) wild type sequence in deletion region: ctt (L) gta (V) aat (N) att (I) ctt (L) cct (P) tat (Y) ttt (F) gcc (A) tat (Y) gag (E) ggt (G) acc (T) aga (R) gac (D) agt (S) ggg (G) atg (M) gca (A) cag (Q) caa (Q) aga (R) gag (E) act (T) gct (A) acc (T) aag (K) gtc (V) tat (Y) gat (D) atg (M) ctt (L) aaa (K) agt (S) gaa (E) aac (N) tta (L) ttg (L) gga (G) aaa (K) cag (Q) wt inframe deln region length = 41 first wt aa affected by inframe deletion is : gta (V) 1292 V 1331 Q haematopoietic_and_lymphoid_tissue ATM 1 c.503_508delTCTCTG p.F168_V170>L length of cdnaseq = 9171 length of protseq = 3056 503 508 TCTCTG 6 168 2 170 1 tctctg Total no. of codons in cdna seq = 3057 ttc gtg start t-t end g-t t-- -tg ttg (L) length of cdnaseq after deletion = 9165 ter codon is tga at posn 3055 Protein length after deletion = 3054 Total no. of codons in del cdnaseq = 3055 last codon in array is tga gaa (E) ttg (L) ttc (F) gtg (V) tac (Y) ttc (F) agg (R) ctc (L) gaa (E) ttg (L) ttg (L) tac (Y) ttc (F) agg (R) wild type sequence in deletion region: ttc (F) tct (S) gtg (V) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : ttc (F) 168 F 170 V L haematopoietic_and_lymphoid_tissue ATM 1 c.7636_7644del9 p.S2546_I2548del length of cdnaseq = 9171 length of protseq = 3056 7636 7644 9 9 2546 1 2548 3 tctagaatt Total no. of codons in cdna seq = 3057 tct att prev c start c-t post t end t-t --- --- No joining codon length of cdnaseq after deletion = 9162 ter codon is tga at posn 3054 Protein length after deletion = 3053 Total no. of codons in del cdnaseq = 3054 last codon in array is tga cta (L) atc (I) tct (S) att (I) tca (S) atg (M) gat (D) cac (H) cta (L) atc (I) tca (S) atg (M) gat (D) cac (H) wild type sequence in deletion region: tct (S) aga (R) att (I) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : aga (R) 2546 S 2548 I R S 1 haematopoietic_and_lymphoid_tissue ATM c.7636_7644del9 p.S2546_I2548del haematopoietic_and_lymphoid_tissue ATM 1 c.8430_8432delAAA p.K2810del length of cdnaseq = 9171 length of protseq = 3056 8430 8432 AAA 3 2810 3 2811 2 aaa Total no. of codons in cdna seq = 3057 aaa aag start a-a end a-g aa- --g aag (K) length of cdnaseq after deletion = 9168 ter codon is tga at posn 3056 Protein length after deletion = 3055 Total no. of codons in del cdnaseq = 3056 last codon in array is tga gtg (V) caa (Q) aaa (K) aag (K) tct (S) ttt (F) gaa (E) gag (E) gtg (V) caa (Q) aag (K) tct (S) ttt (F) gaa (E) wild type sequence in deletion region: aaa (K) aag (K) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aag (K) 2810 K 2810 K - haematopoietic_and_lymphoid_tissue ATM 1 c.8613_8615delACA p.R2871_H2872>S length of cdnaseq = 9171 length of protseq = 3056 8613 8615 ACA 3 2871 3 2872 2 aca Total no. of codons in cdna seq = 3057 aga cat start g-a end a-t ag- --t agt (S) length of cdnaseq after deletion = 9168 ter codon is tga at posn 3056 Protein length after deletion = 3055 Total no. of codons in del cdnaseq = 3056 last codon in array is tga ggt (G) gat (D) aga (R) cat (H) gta (V) cag (Q) aat (N) atc (I) ggt (G) gat (D) agt (S) gta (V) cag (Q) aat (N) wild type sequence in deletion region: aga (R) cat (H) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aga (R) 2871 R 2872 H S haematopoietic_and_lymphoid_tissue ATM 1 c.8732_8734delCCA p.T2911del length of cdnaseq = 9171 length of protseq = 3056 8732 8734 CCA 3 2911 2 2912 1 cca Total no. of codons in cdna seq = 3057 acc aga start a-c end a-g a-- -ga aga (R) length of cdnaseq after deletion = 9168 ter codon is tga at posn 3056 Protein length after deletion = 3055 Total no. of codons in del cdnaseq = 3056 last codon in array is tga aga (R) ctc (L) acc (T) aga (R) gat (D) att (I) gtg (V) gat (D) aga (R) ctc (L) aga (R) gat (D) att (I) gtg (V) wild type sequence in deletion region: acc (T) aga (R) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : acc (T) 2911 T 2911 T - breast BCL11A 1 c.1480_1491del12 p.E494_E497del length of cdnaseq = 2508 length of protseq = 835 1480 1491 12 12 494 1 497 3 gaggaagaagag Total no. of codons in cdna seq = 836 gag gag prev a start a-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2496 ter codon is tag at posn 832 Protein length after deletion = 831 Total no. of codons in del cdnaseq = 832 last codon in array is tag gag (E) gaa (E) gag (E) gag (E) gag (E) gaa (E) gag (E) gag (E) gag (E) gaa (E) gag (E) gaa (E) gag (E) gag (E) wild type sequence in deletion region: gag (E) gaa (E) gaa (E) gag (E) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : gaa (E) 494 E 497 E large_intestine BRAF 1 c.1799_1801delTGA p.V600_K601>E length of cdnaseq = 2301 length of protseq = 766 1799 1801 TGA 3 600 2 601 1 tga Total no. of codons in cdna seq = 767 gtg aaa start g-t end a-a g-- -aa gaa (E) length of cdnaseq after deletion = 2298 ter codon is tga at posn 766 Protein length after deletion = 765 Total no. of codons in del cdnaseq = 766 last codon in array is tga gct (A) aca (T) gtg (V) aaa (K) tct (S) cga (R) tgg (W) agt (S) gct (A) aca (T) gaa (E) tct (S) cga (R) tgg (W) wild type sequence in deletion region: gtg (V) aaa (K) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gtg (V) 600 V 601 K E ovary BRAF 1 c.1457_1471del15 p.N486_P490del length of cdnaseq = 2301 length of protseq = 766 1457 1471 15 15 486 2 491 1 atgtgacagcaccta Total no. of codons in cdna seq = 767 aat aca start a-a end a-c a-- -ca aca (T) length of cdnaseq after deletion = 2286 ter codon is tga at posn 762 Protein length after deletion = 761 Total no. of codons in del cdnaseq = 762 last codon in array is tga atg (M) ttg (L) aat (N) aca (T) cct (P) cag (Q) cag (Q) tta (L) atg (M) ttg (L) aca (T) cct (P) cag (Q) cag (Q) wild type sequence in deletion region: aat (N) gtg (V) aca (T) gca (A) cct (P) aca (T) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : aat (N) 486 N 490 P skin BRAF 1 c.1799_1801delTGA p.V600_K601>E length of cdnaseq = 2301 length of protseq = 766 1799 1801 TGA 3 600 2 601 1 tga Total no. of codons in cdna seq = 767 gtg aaa start g-t end a-a g-- -aa gaa (E) length of cdnaseq after deletion = 2298 ter codon is tga at posn 766 Protein length after deletion = 765 Total no. of codons in del cdnaseq = 766 last codon in array is tga gct (A) aca (T) gtg (V) aaa (K) tct (S) cga (R) tgg (W) agt (S) gct (A) aca (T) gaa (E) tct (S) cga (R) tgg (W) wild type sequence in deletion region: gtg (V) aaa (K) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gtg (V) 600 V 601 K E small_intestine BRAF 1 c.1808_1810delGAT p.W604del length of cdnaseq = 2301 length of protseq = 766 1808 1810 GAT 3 603 2 604 1 gat Total no. of codons in cdna seq = 767 cga tgg start c-g end t-g c-- -gg cgg (R) length of cdnaseq after deletion = 2298 ter codon is tga at posn 766 Protein length after deletion = 765 Total no. of codons in del cdnaseq = 766 last codon in array is tga aaa (K) tct (S) cga (R) tgg (W) agt (S) ggg (G) tcc (S) cat (H) aaa (K) tct (S) cgg (R) agt (S) ggg (G) tcc (S) wild type sequence in deletion region: cga (R) tgg (W) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : tgg (W) 604 W 604 W - thyroid BRAF 1 c.1801_1803delAAA p.K601del length of cdnaseq = 2301 length of protseq = 766 1801 1803 AAA 3 601 1 601 3 aaa Total no. of codons in cdna seq = 767 aaa aaa prev g start g-a post t end a-t --- --- No joining codon length of cdnaseq after deletion = 2298 ter codon is tga at posn 766 Protein length after deletion = 765 Total no. of codons in del cdnaseq = 766 last codon in array is tga aca (T) gtg (V) aaa (K) aaa (K) tct (S) cga (R) tgg (W) agt (S) aca (T) gtg (V) tct (S) cga (R) tgg (W) agt (S) wild type sequence in deletion region: aaa (K) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : aaa (K) 601 K 601 K - thyroid BRAF 5 c.1799_1801delTGA p.V600_K601>E length of cdnaseq = 2301 length of protseq = 766 1799 1801 TGA 3 600 2 601 1 tga Total no. of codons in cdna seq = 767 gtg aaa start g-t end a-a g-- -aa gaa (E) length of cdnaseq after deletion = 2298 ter codon is tga at posn 766 Protein length after deletion = 765 Total no. of codons in del cdnaseq = 766 last codon in array is tga gct (A) aca (T) gtg (V) aaa (K) tct (S) cga (R) tgg (W) agt (S) gct (A) aca (T) gaa (E) tct (S) cga (R) tgg (W) wild type sequence in deletion region: gtg (V) aaa (K) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gtg (V) 600 V 601 K E parathyroid CDC73 1 c.13_30del18 p.L5_Q10del length of cdnaseq = 1596 length of protseq = 531 13 30 18 18 5 1 10 3 cttagcgtcctgcgacag Total no. of codons in cdna seq = 532 ctt cag prev g start g-c post t end g-t --- --- No joining codon length of cdnaseq after deletion = 1578 ter codon is tga at posn 526 Protein length after deletion = 525 Total no. of codons in del cdnaseq = 526 last codon in array is tga gac (D) gtg (V) ctt (L) cag (Q) tac (Y) aac (N) atc (I) cag (Q) gac (D) gtg (V) tac (Y) aac (N) atc (I) cag (Q) wild type sequence in deletion region: ctt (L) agc (S) gtc (V) ctg (L) cga (R) cag (Q) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : ctt (L) 5 L 10 Q breast CDH1 1 c.1138_1320del183 p.Y380_K440del length of cdnaseq = 2649 length of protseq = 882 1138 1320 183 183 380 1 440 3 tacaagggtcaggtgcctgagaacgaggctaacgtcgtaatcaccacactgaaagtgactgatgctgatgcccccaataccccagcgtgggaggctgtatacaccatattgaatgatgatggtggacaatttgtcgtcaccacaaatccagtgaacaacgatggcattttgaaaacagcaaag Total no. of codons in cdna seq = 883 tac aag prev g start g-t post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2466 ter codon is tag at posn 822 Protein length after deletion = 821 Total no. of codons in del cdnaseq = 822 last codon in array is tag acc (T) acg (T) tac (Y) aag (K) ggc (G) ttg (L) gat (D) ttt (F) acc (T) acg (T) ggc (G) ttg (L) gat (D) ttt (F) wild type sequence in deletion region: tac (Y) aag (K) ggt (G) cag (Q) gtg (V) cct (P) gag (E) aac (N) gag (E) gct (A) aac (N) gtc (V) gta (V) atc (I) acc (T) aca (T) ctg (L) aaa (K) gtg (V) act (T) gat (D) gct (A) gat (D) gcc (A) ccc (P) aat (N) acc (T) cca (P) gcg (A) tgg (W) gag (E) gct (A) gta (V) tac (Y) acc (T) ata (I) ttg (L) aat (N) gat (D) gat (D) ggt (G) gga (G) caa (Q) ttt (F) gtc (V) gtc (V) acc (T) aca (T) aat (N) cca (P) gtg (V) aac (N) aac (N) gat (D) ggc (G) att (I) ttg (L) aaa (K) aca (T) gca (A) aag (K) wt inframe deln region length = 61 first wt aa affected by inframe deletion is : tac (Y) 380 Y 440 K breast CDH1 1 c.786_794del9 p.F262_E265>L length of cdnaseq = 2649 length of protseq = 882 786 794 9 9 262 3 265 2 cacccagga Total no. of codons in cdna seq = 883 ttc gag start t-c end a-g tt- --g ttg (L) length of cdnaseq after deletion = 2640 ter codon is tag at posn 880 Protein length after deletion = 879 Total no. of codons in del cdnaseq = 880 last codon in array is tag ccc (P) gaa (E) ttc (F) gag (E) gtc (V) ttt (F) aag (K) ggg (G) ccc (P) gaa (E) ttg (L) gtc (V) ttt (F) aag (K) wild type sequence in deletion region: ttc (F) acc (T) cag (Q) gag (E) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : ttc (F) 262 F 265 E L lung CDH1 1 c.493_510del18 p.E165_P170del length of cdnaseq = 2649 length of protseq = 882 493 510 18 18 165 1 170 3 gaaaatgaaaaaggccca Total no. of codons in cdna seq = 883 gaa cca prev a start a-g post t end a-t --- --- No joining codon length of cdnaseq after deletion = 2631 ter codon is tag at posn 877 Protein length after deletion = 876 Total no. of codons in del cdnaseq = 877 last codon in array is tag tgc (C) cca (P) gaa (E) cca (P) ttt (F) cct (P) aaa (K) aac (N) tgc (C) cca (P) ttt (F) cct (P) aaa (K) aac (N) wild type sequence in deletion region: gaa (E) aat (N) gaa (E) aaa (K) ggc (G) cca (P) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gaa (E) 165 E 170 P stomach CDH1 1 c.1009_1137del129 p.S337_T379del length of cdnaseq = 2649 length of protseq = 882 1009 1137 129 129 337 1 379 3 agtttccctacgtataccctggtggttcaagctgctgaccttcaaggtgaggggttaagcacaacagcaacagctgtgatcacagtcactgacaccaacgataatcctccgatcttcaatcccaccacg Total no. of codons in cdna seq = 883 agt acg prev g start g-a post t end g-t --- --- No joining codon length of cdnaseq after deletion = 2520 ter codon is tag at posn 840 Protein length after deletion = 839 Total no. of codons in del cdnaseq = 840 last codon in array is tag cga (R) gag (E) agt (S) acg (T) tac (Y) aag (K) ggt (G) cag (Q) cga (R) gag (E) tac (Y) aag (K) ggt (G) cag (Q) wild type sequence in deletion region: agt (S) ttc (F) cct (P) acg (T) tat (Y) acc (T) ctg (L) gtg (V) gtt (V) caa (Q) gct (A) gct (A) gac (D) ctt (L) caa (Q) ggt (G) gag (E) ggg (G) tta (L) agc (S) aca (T) aca (T) gca (A) aca (T) gct (A) gtg (V) atc (I) aca (T) gtc (V) act (T) gac (D) acc (T) aac (N) gat (D) aat (N) cct (P) ccg (P) atc (I) ttc (F) aat (N) ccc (P) acc (T) acg (T) wt inframe deln region length = 43 first wt aa affected by inframe deletion is : agt (S) 337 S 379 T stomach CDH1 1 c.1138_1320del183 p.Y380_K440del length of cdnaseq = 2649 length of protseq = 882 1138 1320 183 183 380 1 440 3 tacaagggtcaggtgcctgagaacgaggctaacgtcgtaatcaccacactgaaagtgactgatgctgatgcccccaataccccagcgtgggaggctgtatacaccatattgaatgatgatggtggacaatttgtcgtcaccacaaatccagtgaacaacgatggcattttgaaaacagcaaag Total no. of codons in cdna seq = 883 tac aag prev g start g-t post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2466 ter codon is tag at posn 822 Protein length after deletion = 821 Total no. of codons in del cdnaseq = 822 last codon in array is tag acc (T) acg (T) tac (Y) aag (K) ggc (G) ttg (L) gat (D) ttt (F) acc (T) acg (T) ggc (G) ttg (L) gat (D) ttt (F) wild type sequence in deletion region: tac (Y) aag (K) ggt (G) cag (Q) gtg (V) cct (P) gag (E) aac (N) gag (E) gct (A) aac (N) gtc (V) gta (V) atc (I) acc (T) aca (T) ctg (L) aaa (K) gtg (V) act (T) gat (D) gct (A) gat (D) gcc (A) ccc (P) aat (N) acc (T) cca (P) gcg (A) tgg (W) gag (E) gct (A) gta (V) tac (Y) acc (T) ata (I) ttg (L) aat (N) gat (D) gat (D) ggt (G) gga (G) caa (Q) ttt (F) gtc (V) gtc (V) acc (T) aca (T) aat (N) cca (P) gtg (V) aac (N) aac (N) gat (D) ggc (G) att (I) ttg (L) aaa (K) aca (T) gca (A) aag (K) wt inframe deln region length = 61 first wt aa affected by inframe deletion is : tac (Y) 380 Y 440 K stomach CDH1 1 c.1198_1200delGAT p.D400del length of cdnaseq = 2649 length of protseq = 882 1198 1200 GAT 3 400 1 400 3 gat Total no. of codons in cdna seq = 883 gat gat prev t start t-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2646 ter codon is tag at posn 882 Protein length after deletion = 881 Total no. of codons in del cdnaseq = 882 last codon in array is tag gtg (V) act (T) gat (D) gat (D) gct (A) gat (D) gcc (A) ccc (P) gtg (V) act (T) gct (A) gat (D) gcc (A) ccc (P) wild type sequence in deletion region: gat (D) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gat (D) 400 D 400 D - stomach CDH1 1 c.1252_1269del18 p.D418_F423del length of cdnaseq = 2649 length of protseq = 882 1252 1269 18 18 418 1 423 3 gatgatggtggacaattt Total no. of codons in cdna seq = 883 gat ttt prev t start t-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2631 ter codon is tag at posn 877 Protein length after deletion = 876 Total no. of codons in del cdnaseq = 877 last codon in array is tag ttg (L) aat (N) gat (D) ttt (F) gtc (V) gtc (V) acc (T) aca (T) ttg (L) aat (N) gtc (V) gtc (V) acc (T) aca (T) wild type sequence in deletion region: gat (D) gat (D) ggt (G) gga (G) caa (Q) ttt (F) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gat (D) 418 D 423 F stomach CDH1 1 c.1321_1389del69 p.G441_E463del length of cdnaseq = 2649 length of protseq = 882 1321 1389 69 69 441 1 463 3 ggcttggattttgaggccaagcagcagtacattctacacgtagcagtgacgaatgtggtaccttttgag Total no. of codons in cdna seq = 883 ggc gag prev g start g-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2580 ter codon is tag at posn 860 Protein length after deletion = 859 Total no. of codons in del cdnaseq = 860 last codon in array is tag gca (A) aag (K) ggc (G) gag (E) gtc (V) tct (S) ctc (L) acc (T) gca (A) aag (K) gtc (V) tct (S) ctc (L) acc (T) wild type sequence in deletion region: ggc (G) ttg (L) gat (D) ttt (F) gag (E) gcc (A) aag (K) cag (Q) cag (Q) tac (Y) att (I) cta (L) cac (H) gta (V) gca (A) gtg (V) acg (T) aat (N) gtg (V) gta (V) cct (P) ttt (F) gag (E) wt inframe deln region length = 23 first wt aa affected by inframe deletion is : ggc (G) 441 G 463 E stomach CDH1 1 c.469_531del63 p.V157_Q177del length of cdnaseq = 2649 length of protseq = 882 469 531 63 63 157 1 177 3 gttattcctcccatcagctgcccagaaaatgaaaaaggcccatttcctaaaaacctggttcag Total no. of codons in cdna seq = 883 gtt cag prev g start g-g post a end g-a --- --- No joining codon length of cdnaseq after deletion = 2586 ter codon is tag at posn 862 Protein length after deletion = 861 Total no. of codons in del cdnaseq = 862 last codon in array is tag gac (D) tgg (W) gtt (V) cag (Q) atc (I) aaa (K) tcc (S) aac (N) gac (D) tgg (W) atc (I) aaa (K) tcc (S) aac (N) wild type sequence in deletion region: gtt (V) att (I) cct (P) ccc (P) atc (I) agc (S) tgc (C) cca (P) gaa (E) aat (N) gaa (E) aaa (K) ggc (G) cca (P) ttt (F) cct (P) aaa (K) aac (N) ctg (L) gtt (V) cag (Q) wt inframe deln region length = 21 first wt aa affected by inframe deletion is : gtt (V) 157 V 177 Q stomach CDH1 1 c.612_620del9 p.F205_I207del length of cdnaseq = 2649 length of protseq = 882 612 620 9 9 204 3 207 2 ctttattat Total no. of codons in cdna seq = 883 gtc att start t-c end t-t gt- --t gtt (V) length of cdnaseq after deletion = 2640 ter codon is tag at posn 880 Protein length after deletion = 879 Total no. of codons in del cdnaseq = 880 last codon in array is tag gtt (V) ggt (G) gtc (V) att (I) gaa (E) aga (R) gaa (E) aca (T) gtt (V) ggt (G) gtt (V) gaa (E) aga (R) gaa (E) wild type sequence in deletion region: gtc (V) ttt (F) att (I) att (I) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : ttt (F) 205 F 207 I stomach CDH1 2 c.821_832del12 p.G274_P277del length of cdnaseq = 2649 length of protseq = 882 821 832 12 12 274 2 278 1 gtgctcttccag Total no. of codons in cdna seq = 883 ggt gga start g-g end g-g g-- -ga gga (G) length of cdnaseq after deletion = 2637 ter codon is tag at posn 879 Protein length after deletion = 878 Total no. of codons in del cdnaseq = 879 last codon in array is tag atg (M) gaa (E) ggt (G) gga (G) acc (T) tct (S) gtg (V) atg (M) atg (M) gaa (E) gga (G) acc (T) tct (S) gtg (V) wild type sequence in deletion region: ggt (G) gct (A) ctt (L) cca (P) gga (G) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : gct (A) 274 G 277 P A G 2 stomach CDH1 c.821_832del12 p.G274_P277del pancreas CDKN2A 11 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * oesophagus CDKN2A 13 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * kidney CDKN2A 15 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * skin CDKN2A 17 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * autonomic_ganglia CDKN2A 1 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * biliary_tract CDKN2A 1 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * lung CDKN2A 1 c.183_185delGCT p.L62del length of cdnaseq = 471 length of protseq = 156 183 185 GCT 3 61 3 62 2 gct Total no. of codons in cdna seq = 157 gag ctg start a-g end t-g ga- --g gag (E) length of cdnaseq after deletion = 468 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 156 last codon in array is tga gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctc (L) wild type sequence in deletion region: gag (E) ctg (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ctg (L) 62 L 62 L - lung CDKN2A 1 c.244_264del21 p.V82_E88del length of cdnaseq = 471 length of protseq = 156 244 264 21 21 82 1 88 3 gtgcacgacgctgcccgggag Total no. of codons in cdna seq = 157 gtg gag prev c start c-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 450 ter codon is tga at posn 150 Protein length after deletion = 149 Total no. of codons in del cdnaseq = 150 last codon in array is tga cga (R) ccc (P) gtg (V) gag (E) ggc (G) ttc (F) ctg (L) gac (D) cga (R) ccc (P) ggc (G) ttc (F) ctg (L) gac (D) wild type sequence in deletion region: gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gtg (V) 82 V 88 E lung CDKN2A 1 c.245_265delTGCACGACGCTGCCCGGGAGG p.V82_G89>G length of cdnaseq = 471 length of protseq = 156 245 265 TGCACGACGCTGCCCGGGAGG 21 82 2 89 1 tgcacgacgctgcccgggagg Total no. of codons in cdna seq = 157 gtg ggc start g-t end g-g g-- -gc ggc (G) length of cdnaseq after deletion = 450 ter codon is tga at posn 150 Protein length after deletion = 149 Total no. of codons in del cdnaseq = 150 last codon in array is tga cga (R) ccc (P) gtg (V) ggc (G) ttc (F) ctg (L) gac (D) acg (T) cga (R) ccc (P) ggc (G) ttc (F) ctg (L) gac (D) wild type sequence in deletion region: gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : gtg (V) 82 V 89 G G oesophagus CDKN2A 1 c.132_134delCGG p.G45del length of cdnaseq = 471 length of protseq = 156 132 134 CGG 3 44 3 45 2 cgg Total no. of codons in cdna seq = 157 tac ggt start a-c end g-t ta- --t tat (Y) length of cdnaseq after deletion = 468 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 156 last codon in array is tga aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) aat (N) agt (S) tat (Y) cgg (R) agg (R) ccg (P) wild type sequence in deletion region: tac (Y) ggt (G) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ggt (G) 45 G 45 G - oesophagus CDKN2A 1 c.182_283del102 p.E61_L94del length of cdnaseq = 471 length of protseq = 156 182 283 102 102 61 2 95 1 agctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctgg Total no. of codons in cdna seq = 157 gag gtg start g-a end g-t g-- -tg gtg (V) length of cdnaseq after deletion = 369 ter codon is tga at posn 123 Protein length after deletion = 122 Total no. of codons in del cdnaseq = 123 last codon in array is tga gtg (V) gcg (A) gag (E) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gtg (V) gcg (A) gtg (V) gtg (V) ctg (L) cac (H) wild type sequence in deletion region: gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) wt inframe deln region length = 35 first wt aa affected by inframe deletion is : gag (E) 61 E 94 L oesophagus CDKN2A 1 c.191_205del15 p.L64_E69>Q length of cdnaseq = 471 length of protseq = 156 191 205 15 15 64 2 69 1 tgctccacggcgcgg Total no. of codons in cdna seq = 157 ctg gag start c-t end g-a c-- -ag cag (Q) length of cdnaseq after deletion = 456 ter codon is tga at posn 152 Protein length after deletion = 151 Total no. of codons in del cdnaseq = 152 last codon in array is tga ctg (L) ctg (L) ctg (L) gag (E) ccc (P) aac (N) tgc (C) gcc (A) ctg (L) ctg (L) cag (Q) ccc (P) aac (N) tgc (C) wild type sequence in deletion region: ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : ctg (L) 64 L 69 E Q oesophagus CDKN2A 1 c.25_60del33 p.M9_A20>X length of cdnaseq = 471 length of protseq = 156 25 60 33 33 9 1 20 3 atggagccttcggctgactggctggccacggccgcg Total no. of codons in cdna seq = 157 atg gcg prev c start c-a post g end g-g --- --- No joining codon length of cdnaseq after deletion = 435 ter codon is tga at posn 145 Protein length after deletion = 144 Total no. of codons in del cdnaseq = 145 last codon in array is tga agc (S) agc (S) atg (M) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) agc (S) agc (S) gcc (A) cgg (R) ggt (G) cgg (R) wild type sequence in deletion region: atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) wt inframe deln region length = 12 first wt aa affected by inframe deletion is : atg (M) 9 M 20 A X oesophagus CDKN2A 1 c.58_63delGCGGCC p.A20_A21del length of cdnaseq = 471 length of protseq = 156 58 63 GCGGCC 6 20 1 21 3 gcggcc Total no. of codons in cdna seq = 157 gcg gcc prev c start c-g post c end c-c --- --- No joining codon length of cdnaseq after deletion = 465 ter codon is tga at posn 155 Protein length after deletion = 154 Total no. of codons in del cdnaseq = 155 last codon in array is tga acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) acg (T) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) wild type sequence in deletion region: gcg (A) gcc (A) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gcg (A) 20 A 21 A pancreas CDKN2A 1 c.19_57del39 p.S7_A19del length of cdnaseq = 471 length of protseq = 156 19 57 39 39 7 1 19 3 agcagcatggagccttcggctgactggctggccacggcc Total no. of codons in cdna seq = 157 agc gcc prev g start g-a post g end c-g --- --- No joining codon length of cdnaseq after deletion = 432 ter codon is tga at posn 144 Protein length after deletion = 143 Total no. of codons in del cdnaseq = 144 last codon in array is tga gcg (A) ggg (G) agc (S) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) gcg (A) ggg (G) gcg (A) gcc (A) cgg (R) ggt (G) wild type sequence in deletion region: agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) wt inframe deln region length = 13 first wt aa affected by inframe deletion is : agc (S) 7 S 19 A salivary_gland CDKN2A 1 c.240_254del15 p.P81_A85del length of cdnaseq = 471 length of protseq = 156 240 254 15 15 80 3 85 2 acccgtgcacgacgc Total no. of codons in cdna seq = 157 cga gct start g-a end c-t cg- --t cgt (R) length of cdnaseq after deletion = 456 ter codon is tga at posn 152 Protein length after deletion = 151 Total no. of codons in del cdnaseq = 152 last codon in array is tga ctc (L) acc (T) cga (R) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ctc (L) acc (T) cgt (R) gcc (A) cgg (R) gag (E) wild type sequence in deletion region: cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : ccc (P) 81 P 85 A skin CDKN2A 1 c.250_270del21 p.D84_F90del length of cdnaseq = 471 length of protseq = 156 250 270 21 21 84 1 90 3 gacgctgcccgggagggcttc Total no. of codons in cdna seq = 157 gac ttc prev c start c-g post c end c-c --- --- No joining codon length of cdnaseq after deletion = 450 ter codon is tga at posn 150 Protein length after deletion = 149 Total no. of codons in del cdnaseq = 150 last codon in array is tga gtg (V) cac (H) gac (D) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) cac (H) ctg (L) gac (D) acg (T) ctg (L) wild type sequence in deletion region: gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gac (D) 84 D 90 F upper_aerodigestive_tract CDKN2A 1 c.175_201del27 p.V59_G67del length of cdnaseq = 471 length of protseq = 156 175 201 27 27 59 1 67 3 gtggcggagctgctgctgctccacggc Total no. of codons in cdna seq = 157 gtg ggc prev a start a-g post g end c-g --- --- No joining codon length of cdnaseq after deletion = 444 ter codon is tga at posn 148 Protein length after deletion = 147 Total no. of codons in del cdnaseq = 148 last codon in array is tga gcc (A) cga (R) gtg (V) ggc (G) gcg (A) gag (E) ccc (P) aac (N) gcc (A) cga (R) gcg (A) gag (E) ccc (P) aac (N) wild type sequence in deletion region: gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : gtg (V) 59 V 67 G upper_aerodigestive_tract CDKN2A 1 c.184_186delCTG p.L62del length of cdnaseq = 471 length of protseq = 156 184 186 CTG 3 62 1 62 3 ctg Total no. of codons in cdna seq = 157 ctg ctg prev g start g-c post c end g-c --- --- No joining codon length of cdnaseq after deletion = 468 ter codon is tga at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 156 last codon in array is tga gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) gcg (A) gag (E) ctg (L) ctg (L) ctc (L) cac (H) wild type sequence in deletion region: ctg (L) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gcg (A) 62 L 62 L - A L 1 upper_aerodigestive_tract CDKN2A c.184_186delCTG p.L62del upper_aerodigestive_tract CDKN2A 1 c.277_315del39 p.T93_D105del length of cdnaseq = 471 length of protseq = 156 277 315 39 39 93 1 105 3 acgctggtggtgctgcaccgggccggggcgcggctggac Total no. of codons in cdna seq = 157 acg gac prev c start c-a post g end c-g --- --- No joining codon length of cdnaseq after deletion = 432 ter codon is tga at posn 144 Protein length after deletion = 143 Total no. of codons in del cdnaseq = 144 last codon in array is tga ctg (L) gac (D) acg (T) gac (D) gtg (V) cgc (R) gat (D) gcc (A) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) wild type sequence in deletion region: acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) wt inframe deln region length = 13 first wt aa affected by inframe deletion is : acg (T) 93 T 105 D upper_aerodigestive_tract CDKN2A 1 c.83_151del69 p.V28_V51del length of cdnaseq = 471 length of protseq = 156 83 151 69 69 28 2 51 1 tgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccagg Total no. of codons in cdna seq = 157 gtg gtc start g-t end g-t g-- -tc gtc (V) length of cdnaseq after deletion = 402 ter codon is tga at posn 134 Protein length after deletion = 133 Total no. of codons in del cdnaseq = 134 last codon in array is tga gag (E) gag (E) gtg (V) gtc (V) atg (M) atg (M) atg (M) ggc (G) gag (E) gag (E) gtc (V) atg (M) atg (M) atg (M) wild type sequence in deletion region: gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) wt inframe deln region length = 24 first wt aa affected by inframe deletion is : cgg (R) 28 V 51 V R V 1 upper_aerodigestive_tract CDKN2A c.83_151del69 p.V28_V51del vulva CDKN2A 1 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * oesophagus CDKN2A 2 c.83_100del18 p.V28_E33del length of cdnaseq = 471 length of protseq = 156 83 100 18 18 28 2 34 1 tgcgggcgctgctggagg Total no. of codons in cdna seq = 157 gtg gcg start g-t end g-c g-- -cg gcg (A) length of cdnaseq after deletion = 453 ter codon is tga at posn 151 Protein length after deletion = 150 Total no. of codons in del cdnaseq = 151 last codon in array is tga gag (E) gag (E) gtg (V) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) gag (E) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) wild type sequence in deletion region: gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gtg (V) 28 V 33 E pancreas CDKN2A 2 c.85_102del18 p.R29_A34del length of cdnaseq = 471 length of protseq = 156 85 102 18 18 29 1 34 3 cgggcgctgctggaggcg Total no. of codons in cdna seq = 157 cgg gcg prev g start g-c post g end g-g --- --- No joining codon length of cdnaseq after deletion = 453 ter codon is tga at posn 151 Protein length after deletion = 150 Total no. of codons in del cdnaseq = 151 last codon in array is tga gag (E) gtg (V) cgg (R) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) gag (E) gtg (V) ggg (G) gcg (A) ctg (L) ccc (P) wild type sequence in deletion region: cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : cgg (R) 29 R 34 A skin CDKN2A 2 c.9_32del24 p.P3_P11del length of cdnaseq = 471 length of protseq = 156 9 32 24 24 3 3 11 2 ggcggcggggagcagcatggagcc Total no. of codons in cdna seq = 157 ccg cct start c-g end c-t cc- --t cct (P) length of cdnaseq after deletion = 447 ter codon is tga at posn 149 Protein length after deletion = 148 Total no. of codons in del cdnaseq = 149 last codon in array is tga atg (M) gag (E) ccg (P) cct (P) tcg (S) gct (A) gac (D) tgg (W) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) wild type sequence in deletion region: ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : gcg (A) 3 P 11 P A P 2 skin CDKN2A c.9_32del24 p.P3_P11del skin CDKN2A 2 c.95_112del18 p.L32_L37del length of cdnaseq = 471 length of protseq = 156 95 112 18 18 32 2 38 1 tggaggcgggggcgctgc Total no. of codons in cdna seq = 157 ctg ccc start c-t end c-c c-- -cc ccc (P) length of cdnaseq after deletion = 453 ter codon is tga at posn 151 Protein length after deletion = 150 Total no. of codons in del cdnaseq = 151 last codon in array is tga gcg (A) ctg (L) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) wild type sequence in deletion region: ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : ctg (L) 32 L 37 L stomach CDKN2A 2 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * lung CDKN2A 33 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * central_nervous_system CDKN2A 35 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * haematopoietic_and_lymphoid_tissue CDKN2A 37 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * large_intestine CDKN2A 3 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * liver CDKN2A 3 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * oesophagus CDKN2A 3 c.94_111del18 p.L32_L37del length of cdnaseq = 471 length of protseq = 156 94 111 18 18 32 1 37 3 ctggaggcgggggcgctg Total no. of codons in cdna seq = 157 ctg ctg prev g start g-c post c end g-c --- --- No joining codon length of cdnaseq after deletion = 453 ter codon is tga at posn 151 Protein length after deletion = 150 Total no. of codons in del cdnaseq = 151 last codon in array is tga gcg (A) ctg (L) ctg (L) ctg (L) ccc (P) aac (N) gca (A) ccg (P) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) wild type sequence in deletion region: ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : ctg (L) 32 L 37 L upper_aerodigestive_tract CDKN2A 3 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * upper_aerodigestive_tract CDKN2A 3 c.157_174del18 p.M53_R58del length of cdnaseq = 471 length of protseq = 156 157 174 18 18 53 1 58 3 atgatgggcagcgcccga Total no. of codons in cdna seq = 157 atg cga prev g start g-a post g end a-g --- --- No joining codon length of cdnaseq after deletion = 453 ter codon is tga at posn 151 Protein length after deletion = 150 Total no. of codons in del cdnaseq = 151 last codon in array is tga gtc (V) atg (M) atg (M) cga (R) gtg (V) gcg (A) gag (E) ctg (L) gtc (V) atg (M) gtg (V) gcg (A) gag (E) ctg (L) wild type sequence in deletion region: atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : atg (M) 53 M 58 R pleura CDKN2A 4 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * thyroid CDKN2A 4 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * ovary CDKN2A 6 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * soft_tissue CDKN2A 7 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * breast CDKN2A 8 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * urinary_tract CDKN2A 8 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * bone CDKN2A 9 c.1_471del471 p.M1_*157del length of cdnaseq = 471 length of protseq = 156 1 471 471 471 1 1 157 3 atggagccggcggcggggagcagcatggagccttcggctgactggctggccacggccgcggcccggggtcgggtagaggaggtgcgggcgctgctggaggcgggggcgctgcccaacgcaccgaatagttacggtcggaggccgatccaggtcatgatgatgggcagcgcccgagtggcggagctgctgctgctccacggcgcggagcccaactgcgccgaccccgccactctcacccgacccgtgcacgacgctgcccgggagggcttcctggacacgctggtggtgctgcaccgggccggggcgcggctggacgtgcgcgatgcctggggccgtctgcccgtggacctggctgaggagctgggccatcgcgatgtcgcacggtacctgcgcgcggctgcggggggcaccagaggcagtaaccatgcccgcatagatgccgcggaaggtccctcagacatccccgattga Total no. of codons in cdna seq = 157 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) ccg (P) gcg (A) gcg (A) ggg (G) agc (S) agc (S) atg (M) gag (E) cct (P) tcg (S) gct (A) gac (D) tgg (W) ctg (L) gcc (A) acg (T) gcc (A) gcg (A) gcc (A) cgg (R) ggt (G) cgg (R) gta (V) gag (E) gag (E) gtg (V) cgg (R) gcg (A) ctg (L) ctg (L) gag (E) gcg (A) ggg (G) gcg (A) ctg (L) ccc (P) aac (N) gca (A) ccg (P) aat (N) agt (S) tac (Y) ggt (G) cgg (R) agg (R) ccg (P) atc (I) cag (Q) gtc (V) atg (M) atg (M) atg (M) ggc (G) agc (S) gcc (A) cga (R) gtg (V) gcg (A) gag (E) ctg (L) ctg (L) ctg (L) ctc (L) cac (H) ggc (G) gcg (A) gag (E) ccc (P) aac (N) tgc (C) gcc (A) gac (D) ccc (P) gcc (A) act (T) ctc (L) acc (T) cga (R) ccc (P) gtg (V) cac (H) gac (D) gct (A) gcc (A) cgg (R) gag (E) ggc (G) ttc (F) ctg (L) gac (D) acg (T) ctg (L) gtg (V) gtg (V) ctg (L) cac (H) cgg (R) gcc (A) ggg (G) gcg (A) cgg (R) ctg (L) gac (D) gtg (V) cgc (R) gat (D) gcc (A) tgg (W) ggc (G) cgt (R) ctg (L) ccc (P) gtg (V) gac (D) ctg (L) gct (A) gag (E) gag (E) ctg (L) ggc (G) cat (H) cgc (R) gat (D) gtc (V) gca (A) cgg (R) tac (Y) ctg (L) cgc (R) gcg (A) gct (A) gcg (A) ggg (G) ggc (G) acc (T) aga (R) ggc (G) agt (S) aac (N) cat (H) gcc (A) cgc (R) ata (I) gat (D) gcc (A) gcg (A) gaa (E) ggt (G) ccc (P) tca (S) gac (D) atc (I) ccc (P) gat (D) tga (TER) wt inframe deln region length = 157 first wt aa affected by inframe deletion is : atg (M) 1 M 157 * haematopoietic_and_lymphoid_tissue CEBPA 1 c.18_389del372 p.Y7_G130del length of cdnaseq = 1077 length of protseq = 358 18 389 372 372 6 3 130 2 ctacgaggcggagccgcggcccccgatgagcagccacctgcagagccccccgcacgcgcccagcagcgccgccttcggctttccccggggcgcgggccccgcgcagcctcccgccccacctgccgccccggagccgctgggcggcatctgcgagcacgagacgtccatcgacatcagcgcctacatcgacccggccgccttcaacgacgagttcctggccgacctgttccagcacagccggcagcaggagaaggccaaggcggccgtgggccccacgggcggcggcggcggcggcgactttgactacccgggcgcgcccgcgggccccggcggcgccgtcatgcccgggggagcgcacgggcccccgcccgg Total no. of codons in cdna seq = 359 ttc ggc start t-c end g-c tt- --c ttc (F) length of cdnaseq after deletion = 705 ter codon is tga at posn 235 Protein length after deletion = 234 Total no. of codons in del cdnaseq = 235 last codon in array is tga gcc (A) gac (D) ttc (F) ggc (G) tac (Y) ggc (G) tgc (C) gcg (A) gcc (A) gac (D) ttc (F) tac (Y) ggc (G) tgc (C) wild type sequence in deletion region: ttc (F) tac (Y) gag (E) gcg (A) gag (E) ccg (P) cgg (R) ccc (P) ccg (P) atg (M) agc (S) agc (S) cac (H) ctg (L) cag (Q) agc (S) ccc (P) ccg (P) cac (H) gcg (A) ccc (P) agc (S) agc (S) gcc (A) gcc (A) ttc (F) ggc (G) ttt (F) ccc (P) cgg (R) ggc (G) gcg (A) ggc (G) ccc (P) gcg (A) cag (Q) cct (P) ccc (P) gcc (A) cca (P) cct (P) gcc (A) gcc (A) ccg (P) gag (E) ccg (P) ctg (L) ggc (G) ggc (G) atc (I) tgc (C) gag (E) cac (H) gag (E) acg (T) tcc (S) atc (I) gac (D) atc (I) agc (S) gcc (A) tac (Y) atc (I) gac (D) ccg (P) gcc (A) gcc (A) ttc (F) aac (N) gac (D) gag (E) ttc (F) ctg (L) gcc (A) gac (D) ctg (L) ttc (F) cag (Q) cac (H) agc (S) cgg (R) cag (Q) cag (Q) gag (E) aag (K) gcc (A) aag (K) gcg (A) gcc (A) gtg (V) ggc (G) ccc (P) acg (T) ggc (G) ggc (G) ggc (G) ggc (G) ggc (G) ggc (G) gac (D) ttt (F) gac (D) tac (Y) ccg (P) ggc (G) gcg (A) ccc (P) gcg (A) ggc (G) ccc (P) ggc (G) ggc (G) gcc (A) gtc (V) atg (M) ccc (P) ggg (G) gga (G) gcg (A) cac (H) ggg (G) ccc (P) ccg (P) ccc (P) ggc (G) wt inframe deln region length = 125 first wt aa affected by inframe deletion is : tac (Y) 7 Y 130 G haematopoietic_and_lymphoid_tissue CEBPA 1 c.232_522del291 p.L78_A174del length of cdnaseq = 1077 length of protseq = 358 232 522 291 291 78 1 174 3 ctggccgacctgttccagcacagccggcagcaggagaaggccaaggcggccgtgggccccacgggcggcggcggcggcggcgactttgactacccgggcgcgcccgcgggccccggcggcgccgtcatgcccgggggagcgcacgggcccccgcccggctacggctgcgcggccgccggctacctggacggcaggctggagcccctgtacgagcgcgtcggggcgccggcgctgcggccgctggtgatcaagcaggagccccgcgaggaggatgaagccaagcagctggcg Total no. of codons in cdna seq = 359 ctg gcg prev c start c-c post c end g-c --- --- No joining codon length of cdnaseq after deletion = 786 ter codon is tga at posn 262 Protein length after deletion = 261 Total no. of codons in del cdnaseq = 262 last codon in array is tga gag (E) ttc (F) ctg (L) gcg (A) ctg (L) gcc (A) ggc (G) ctc (L) gag (E) ttc (F) ctg (L) gcc (A) ggc (G) ctc (L) wild type sequence in deletion region: ctg (L) gcc (A) gac (D) ctg (L) ttc (F) cag (Q) cac (H) agc (S) cgg (R) cag (Q) cag (Q) gag (E) aag (K) gcc (A) aag (K) gcg (A) gcc (A) gtg (V) ggc (G) ccc (P) acg (T) ggc (G) ggc (G) ggc (G) ggc (G) ggc (G) ggc (G) gac (D) ttt (F) gac (D) tac (Y) ccg (P) ggc (G) gcg (A) ccc (P) gcg (A) ggc (G) ccc (P) ggc (G) ggc (G) gcc (A) gtc (V) atg (M) ccc (P) ggg (G) gga (G) gcg (A) cac (H) ggg (G) ccc (P) ccg (P) ccc (P) ggc (G) tac (Y) ggc (G) tgc (C) gcg (A) gcc (A) gcc (A) ggc (G) tac (Y) ctg (L) gac (D) ggc (G) agg (R) ctg (L) gag (E) ccc (P) ctg (L) tac (Y) gag (E) cgc (R) gtc (V) ggg (G) gcg (A) ccg (P) gcg (A) ctg (L) cgg (R) ccg (P) ctg (L) gtg (V) atc (I) aag (K) cag (Q) gag (E) ccc (P) cgc (R) gag (E) gag (E) gat (D) gaa (E) gcc (A) aag (K) cag (Q) ctg (L) gcg (A) wt inframe deln region length = 97 first wt aa affected by inframe deletion is : gcc (A) 78 L 174 A A L 1 haematopoietic_and_lymphoid_tissue CEBPA c.232_522del291 p.L78_A174del haematopoietic_and_lymphoid_tissue CEBPA 1 c.281_286delCCGTGG p.A94_V95del length of cdnaseq = 1077 length of protseq = 358 281 286 CCGTGG 6 94 2 96 1 ccgtgg Total no. of codons in cdna seq = 359 gcc ggc start g-c end g-g g-- -gc ggc (G) length of cdnaseq after deletion = 1071 ter codon is tga at posn 357 Protein length after deletion = 356 Total no. of codons in del cdnaseq = 357 last codon in array is tga aag (K) gcg (A) gcc (A) ggc (G) ccc (P) acg (T) ggc (G) ggc (G) aag (K) gcg (A) ggc (G) ccc (P) acg (T) ggc (G) wild type sequence in deletion region: gcc (A) gtg (V) ggc (G) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : gcc (A) 94 A 95 V haematopoietic_and_lymphoid_tissue CEBPA 1 c.305_313del9 p.G102_G104del length of cdnaseq = 1077 length of protseq = 358 305 313 9 9 102 2 105 1 gcggcggcg Total no. of codons in cdna seq = 359 ggc gac start g-g end g-a g-- -ac gac (D) length of cdnaseq after deletion = 1068 ter codon is tga at posn 356 Protein length after deletion = 355 Total no. of codons in del cdnaseq = 356 last codon in array is tga ggc (G) ggc (G) ggc (G) gac (D) ttt (F) gac (D) tac (Y) ccg (P) ggc (G) ggc (G) gac (D) ttt (F) gac (D) tac (Y) wild type sequence in deletion region: ggc (G) ggc (G) ggc (G) gac (D) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : ggc (G) 102 G 104 G haematopoietic_and_lymphoid_tissue CEBPA 1 c.332_340del9 p.A111_G114>G length of cdnaseq = 1077 length of protseq = 358 332 340 9 9 111 2 114 1 cgcccgcgg Total no. of codons in cdna seq = 359 gcg ggc start g-c end g-g g-- -gc ggc (G) length of cdnaseq after deletion = 1068 ter codon is tga at posn 356 Protein length after deletion = 355 Total no. of codons in del cdnaseq = 356 last codon in array is tga ccg (P) ggc (G) gcg (A) ggc (G) ccc (P) ggc (G) ggc (G) gcc (A) ccg (P) ggc (G) ggc (G) ccc (P) ggc (G) ggc (G) wild type sequence in deletion region: gcg (A) ccc (P) gcg (A) ggc (G) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : gcg (A) 111 A 114 G G haematopoietic_and_lymphoid_tissue CEBPA 1 c.48_62del15 p.S16_Q20del length of cdnaseq = 1077 length of protseq = 358 48 62 15 15 16 3 21 2 cagccacctgcagag Total no. of codons in cdna seq = 359 agc agc start g-c end g-c ag- --c agc (S) length of cdnaseq after deletion = 1062 ter codon is tga at posn 354 Protein length after deletion = 353 Total no. of codons in del cdnaseq = 354 last codon in array is tga ccg (P) atg (M) agc (S) agc (S) ccc (P) ccg (P) cac (H) gcg (A) ccg (P) atg (M) agc (S) ccc (P) ccg (P) cac (H) wild type sequence in deletion region: agc (S) agc (S) cac (H) ctg (L) cag (Q) agc (S) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : agc (S) 16 S 20 Q haematopoietic_and_lymphoid_tissue CEBPA 1 c.500_502delAGG p.E167del length of cdnaseq = 1077 length of protseq = 358 500 502 AGG 3 167 2 168 1 agg Total no. of codons in cdna seq = 359 gag gat start g-a end g-a g-- -at gat (D) length of cdnaseq after deletion = 1074 ter codon is tga at posn 358 Protein length after deletion = 357 Total no. of codons in del cdnaseq = 358 last codon in array is tga cgc (R) gag (E) gag (E) gat (D) gaa (E) gcc (A) aag (K) cag (Q) cgc (R) gag (E) gat (D) gaa (E) gcc (A) aag (K) wild type sequence in deletion region: gag (E) gat (D) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gag (E) 167 E 167 E - haematopoietic_and_lymphoid_tissue CEBPA 1 c.555_593del39 p.P185_P197del length of cdnaseq = 1077 length of protseq = 358 555 593 39 39 185 3 198 2 gccgccgccgccctcgcacccgcacccgcacccgccgcc Total no. of codons in cdna seq = 359 ccg ccc start c-g end c-c cc- --c ccc (P) length of cdnaseq after deletion = 1038 ter codon is tga at posn 346 Protein length after deletion = 345 Total no. of codons in del cdnaseq = 346 last codon in array is tga ccg (P) ccg (P) ccg (P) ccc (P) gcg (A) cac (H) ctg (L) gcc (A) ccg (P) ccg (P) ccc (P) gcg (A) cac (H) ctg (L) wild type sequence in deletion region: ccg (P) ccg (P) ccg (P) ccg (P) ccc (P) tcg (S) cac (H) ccg (P) cac (H) ccg (P) cac (H) ccg (P) ccg (P) ccc (P) wt inframe deln region length = 14 first wt aa affected by inframe deletion is : ccg (P) 185 P 197 P haematopoietic_and_lymphoid_tissue CEBPA 1 c.568_594del27 p.S190_P198del length of cdnaseq = 1077 length of protseq = 358 568 594 27 27 190 1 198 3 tcgcacccgcacccgcacccgccgccc Total no. of codons in cdna seq = 359 tcg ccc prev c start c-t post g end c-g --- --- No joining codon length of cdnaseq after deletion = 1050 ter codon is tga at posn 350 Protein length after deletion = 349 Total no. of codons in del cdnaseq = 350 last codon in array is tga ccg (P) ccc (P) tcg (S) ccc (P) gcg (A) cac (H) ctg (L) gcc (A) ccg (P) ccc (P) gcg (A) cac (H) ctg (L) gcc (A) wild type sequence in deletion region: tcg (S) cac (H) ccg (P) cac (H) ccg (P) cac (H) ccg (P) ccg (P) ccc (P) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : tcg (S) 190 S 198 P haematopoietic_and_lymphoid_tissue CEBPA 1 c.600_1055del456 p.H200_K352>Q length of cdnaseq = 1077 length of protseq = 358 600 1055 456 456 200 3 352 2 cctggccgccccgcacctgcagttccagatcgcgcactgcggccagaccaccatgcacctgcagcccggtcaccccacgccgccgcccacgcccgtgcccagcccgcaccccgcgcccgcgctcggtgccgccggcctgccgggccctggcagcgcgctcaaggggctgggcgccgcgcaccccgacctccgcgcgagtggcggcagcggcgcgggcaaggccaagaagtcggtggacaagaacagcaacgagtaccgggtgcggcgcgagcgcaacaacatcgcggtgcgcaagagccgcgacaaggccaagcagcgcaacgtggagacgcagcagaaggtgctggagctgaccagtgacaatgaccgcctgcgcaagcgggtggaacagctgagccgcgaactggacacgctgcggggcatcttccgccagctgccagagagctccttggtcaa Total no. of codons in cdna seq = 359 cac aag start a-c end a-g ca- --g cag (Q) length of cdnaseq after deletion = 621 ter codon is tga at posn 207 Protein length after deletion = 206 Total no. of codons in del cdnaseq = 207 last codon in array is tga ccc (P) gcg (A) cac (H) aag (K) gcc (A) atg (M) ggc (G) aac (N) ccc (P) gcg (A) cag (Q) gcc (A) atg (M) ggc (G) wild type sequence in deletion region: cac (H) ctg (L) gcc (A) gcc (A) ccg (P) cac (H) ctg (L) cag (Q) ttc (F) cag (Q) atc (I) gcg (A) cac (H) tgc (C) ggc (G) cag (Q) acc (T) acc (T) atg (M) cac (H) ctg (L) cag (Q) ccc (P) ggt (G) cac (H) ccc (P) acg (T) ccg (P) ccg (P) ccc (P) acg (T) ccc (P) gtg (V) ccc (P) agc (S) ccg (P) cac (H) ccc (P) gcg (A) ccc (P) gcg (A) ctc (L) ggt (G) gcc (A) gcc (A) ggc (G) ctg (L) ccg (P) ggc (G) cct (P) ggc (G) agc (S) gcg (A) ctc (L) aag (K) ggg (G) ctg (L) ggc (G) gcc (A) gcg (A) cac (H) ccc (P) gac (D) ctc (L) cgc (R) gcg (A) agt (S) ggc (G) ggc (G) agc (S) ggc (G) gcg (A) ggc (G) aag (K) gcc (A) aag (K) aag (K) tcg (S) gtg (V) gac (D) aag (K) aac (N) agc (S) aac (N) gag (E) tac (Y) cgg (R) gtg (V) cgg (R) cgc (R) gag (E) cgc (R) aac (N) aac (N) atc (I) gcg (A) gtg (V) cgc (R) aag (K) agc (S) cgc (R) gac (D) aag (K) gcc (A) aag (K) cag (Q) cgc (R) aac (N) gtg (V) gag (E) acg (T) cag (Q) cag (Q) aag (K) gtg (V) ctg (L) gag (E) ctg (L) acc (T) agt (S) gac (D) aat (N) gac (D) cgc (R) ctg (L) cgc (R) aag (K) cgg (R) gtg (V) gaa (E) cag (Q) ctg (L) agc (S) cgc (R) gaa (E) ctg (L) gac (D) acg (T) ctg (L) cgg (R) ggc (G) atc (I) ttc (F) cgc (R) cag (Q) ctg (L) cca (P) gag (E) agc (S) tcc (S) ttg (L) gtc (V) aag (K) wt inframe deln region length = 153 first wt aa affected by inframe deletion is : cac (H) 200 H 352 K Q haematopoietic_and_lymphoid_tissue CEBPA 1 c.902_907delACAAGG p.D301_A303>A length of cdnaseq = 1077 length of protseq = 358 902 907 ACAAGG 6 301 2 303 1 acaagg Total no. of codons in cdna seq = 359 gac gcc start g-a end g-c g-- -cc gcc (A) length of cdnaseq after deletion = 1071 ter codon is tga at posn 357 Protein length after deletion = 356 Total no. of codons in del cdnaseq = 357 last codon in array is tga agc (S) cgc (R) gac (D) gcc (A) aag (K) cag (Q) cgc (R) aac (N) agc (S) cgc (R) gcc (A) aag (K) cag (Q) cgc (R) wild type sequence in deletion region: gac (D) aag (K) gcc (A) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : gac (D) 301 D 303 A A haematopoietic_and_lymphoid_tissue CEBPA 1 c.907_912delGCCAAG p.A303_K304del length of cdnaseq = 1077 length of protseq = 358 907 912 GCCAAG 6 303 1 304 3 gccaag Total no. of codons in cdna seq = 359 gcc aag prev g start g-g post c end g-c --- --- No joining codon length of cdnaseq after deletion = 1071 ter codon is tga at posn 357 Protein length after deletion = 356 Total no. of codons in del cdnaseq = 357 last codon in array is tga gac (D) aag (K) gcc (A) aag (K) cag (Q) cgc (R) aac (N) gtg (V) gac (D) aag (K) cag (Q) cgc (R) aac (N) gtg (V) wild type sequence in deletion region: gcc (A) aag (K) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gcc (A) 303 A 304 K haematopoietic_and_lymphoid_tissue CEBPA 1 c.907_915del9 p.A303_Q305del length of cdnaseq = 1077 length of protseq = 358 907 915 9 9 303 1 305 3 gccaagcag Total no. of codons in cdna seq = 359 gcc cag prev g start g-g post c end g-c --- --- No joining codon length of cdnaseq after deletion = 1068 ter codon is tga at posn 356 Protein length after deletion = 355 Total no. of codons in del cdnaseq = 356 last codon in array is tga gac (D) aag (K) gcc (A) cag (Q) cgc (R) aac (N) gtg (V) gag (E) gac (D) aag (K) cgc (R) aac (N) gtg (V) gag (E) wild type sequence in deletion region: gcc (A) aag (K) cag (Q) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : gcc (A) 303 A 305 Q haematopoietic_and_lymphoid_tissue CEBPA 1 c.912_929del18 p.Q305_T310del length of cdnaseq = 1077 length of protseq = 358 912 929 18 18 304 3 310 2 gcagcgcaacgtggagac Total no. of codons in cdna seq = 359 aag acg start a-g end c-g aa- --g aag (K) length of cdnaseq after deletion = 1059 ter codon is tga at posn 353 Protein length after deletion = 352 Total no. of codons in del cdnaseq = 353 last codon in array is tga aag (K) gcc (A) aag (K) acg (T) cag (Q) cag (Q) aag (K) gtg (V) aag (K) gcc (A) aag (K) cag (Q) cag (Q) aag (K) wild type sequence in deletion region: aag (K) cag (Q) cgc (R) aac (N) gtg (V) gag (E) acg (T) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : cag (Q) 305 Q 310 T haematopoietic_and_lymphoid_tissue CEBPA 1 c.919_936del18 p.N307_Q312del length of cdnaseq = 1077 length of protseq = 358 919 936 18 18 307 1 312 3 aacgtggagacgcagcag Total no. of codons in cdna seq = 359 aac cag prev c start c-a post a end g-a --- --- No joining codon length of cdnaseq after deletion = 1059 ter codon is tga at posn 353 Protein length after deletion = 352 Total no. of codons in del cdnaseq = 353 last codon in array is tga cag (Q) cgc (R) aac (N) cag (Q) aag (K) gtg (V) ctg (L) gag (E) cag (Q) cgc (R) aag (K) gtg (V) ctg (L) gag (E) wild type sequence in deletion region: aac (N) gtg (V) gag (E) acg (T) cag (Q) cag (Q) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : aac (N) 307 N 312 Q haematopoietic_and_lymphoid_tissue CEBPA 1 c.929_934delCGCAGC p.T310_Q312>K length of cdnaseq = 1077 length of protseq = 358 929 934 CGCAGC 6 310 2 312 1 cgcagc Total no. of codons in cdna seq = 359 acg cag start a-c end c-a a-- -ag aag (K) length of cdnaseq after deletion = 1071 ter codon is tga at posn 357 Protein length after deletion = 356 Total no. of codons in del cdnaseq = 357 last codon in array is tga gtg (V) gag (E) acg (T) cag (Q) aag (K) gtg (V) ctg (L) gag (E) gtg (V) gag (E) aag (K) aag (K) gtg (V) ctg (L) wild type sequence in deletion region: acg (T) cag (Q) cag (Q) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : acg (T) 310 T 312 Q K haematopoietic_and_lymphoid_tissue CEBPA 1 c.935_937delAGA p.K313del length of cdnaseq = 1077 length of protseq = 358 935 937 AGA 3 312 2 313 1 aga Total no. of codons in cdna seq = 359 cag aag start c-a end a-a c-- -ag cag (Q) length of cdnaseq after deletion = 1074 ter codon is tga at posn 358 Protein length after deletion = 357 Total no. of codons in del cdnaseq = 358 last codon in array is tga acg (T) cag (Q) cag (Q) aag (K) gtg (V) ctg (L) gag (E) ctg (L) acg (T) cag (Q) cag (Q) gtg (V) ctg (L) gag (E) wild type sequence in deletion region: cag (Q) aag (K) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aag (K) 313 K 313 K - haematopoietic_and_lymphoid_tissue CEBPA 1 c.951_956delGACCAG p.L317_S319>L length of cdnaseq = 1077 length of protseq = 358 951 956 GACCAG 6 317 3 319 2 gaccag Total no. of codons in cdna seq = 359 ctg agt start t-g end g-t ct- --t ctt (L) length of cdnaseq after deletion = 1071 ter codon is tga at posn 357 Protein length after deletion = 356 Total no. of codons in del cdnaseq = 357 last codon in array is tga ctg (L) gag (E) ctg (L) agt (S) gac (D) aat (N) gac (D) cgc (R) ctg (L) gag (E) ctt (L) gac (D) aat (N) gac (D) wild type sequence in deletion region: ctg (L) acc (T) agt (S) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : acc (T) 317 L 319 S L T L 1 haematopoietic_and_lymphoid_tissue CEBPA c.951_956delGACCAG p.L317_S319>L haematopoietic_and_lymphoid_tissue CEBPA 1 c.954_965del12 p.T318_D322>T length of cdnaseq = 1077 length of protseq = 358 954 965 12 12 318 3 322 2 cagtgacaatga Total no. of codons in cdna seq = 359 acc gac start c-c end a-c ac- --c acc (T) length of cdnaseq after deletion = 1065 ter codon is tga at posn 355 Protein length after deletion = 354 Total no. of codons in del cdnaseq = 355 last codon in array is tga gag (E) ctg (L) acc (T) gac (D) cgc (R) ctg (L) cgc (R) aag (K) gag (E) ctg (L) acc (T) cgc (R) ctg (L) cgc (R) wild type sequence in deletion region: acc (T) agt (S) gac (D) aat (N) gac (D) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : agt (S) 318 T 322 D T S T 1 haematopoietic_and_lymphoid_tissue CEBPA c.954_965del12 p.T318_D322>T haematopoietic_and_lymphoid_tissue CEBPA 1 c.958_969del12 p.D320_R323del length of cdnaseq = 1077 length of protseq = 358 958 969 12 12 320 1 323 3 gacaatgaccgc Total no. of codons in cdna seq = 359 gac cgc prev t start t-g post c end c-c --- --- No joining codon length of cdnaseq after deletion = 1065 ter codon is tga at posn 355 Protein length after deletion = 354 Total no. of codons in del cdnaseq = 355 last codon in array is tga acc (T) agt (S) gac (D) cgc (R) ctg (L) cgc (R) aag (K) cgg (R) acc (T) agt (S) ctg (L) cgc (R) aag (K) cgg (R) wild type sequence in deletion region: gac (D) aat (N) gac (D) cgc (R) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : gac (D) 320 D 323 R lung CEBPA 1 c.592_684del93 p.P198_P228del length of cdnaseq = 1077 length of protseq = 358 592 684 93 93 198 1 228 3 cccgcgcacctggccgccccgcacctgcagttccagatcgcgcactgcggccagaccaccatgcacctgcagcccggtcaccccacgccgccg Total no. of codons in cdna seq = 359 ccc ccg prev g start g-c post c end g-c --- --- No joining codon length of cdnaseq after deletion = 984 ter codon is tga at posn 328 Protein length after deletion = 327 Total no. of codons in del cdnaseq = 328 last codon in array is tga ccg (P) ccg (P) ccc (P) ccg (P) ccc (P) acg (T) ccc (P) gtg (V) ccg (P) ccg (P) ccc (P) acg (T) ccc (P) gtg (V) wild type sequence in deletion region: ccc (P) gcg (A) cac (H) ctg (L) gcc (A) gcc (A) ccg (P) cac (H) ctg (L) cag (Q) ttc (F) cag (Q) atc (I) gcg (A) cac (H) tgc (C) ggc (G) cag (Q) acc (T) acc (T) atg (M) cac (H) ctg (L) cag (Q) ccc (P) ggt (G) cac (H) ccc (P) acg (T) ccg (P) ccg (P) wt inframe deln region length = 31 first wt aa affected by inframe deletion is : gcg (A) 198 P 228 P A P 1 lung CEBPA c.592_684del93 p.P198_P228del haematopoietic_and_lymphoid_tissue CEBPA 2 c.878_880delACA p.N293del length of cdnaseq = 1077 length of protseq = 358 878 880 ACA 3 293 2 294 1 aca Total no. of codons in cdna seq = 359 aac atc start a-a end a-t a-- -tc atc (I) length of cdnaseq after deletion = 1074 ter codon is tga at posn 358 Protein length after deletion = 357 Total no. of codons in del cdnaseq = 358 last codon in array is tga cgc (R) aac (N) aac (N) atc (I) gcg (A) gtg (V) cgc (R) aag (K) cgc (R) aac (N) atc (I) gcg (A) gtg (V) cgc (R) wild type sequence in deletion region: aac (N) atc (I) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aac (N) 293 N 293 N - haematopoietic_and_lymphoid_tissue CEBPA 2 c.933_935delGCA p.Q312del length of cdnaseq = 1077 length of protseq = 358 933 935 GCA 3 311 3 312 2 gca Total no. of codons in cdna seq = 359 cag cag start a-g end a-g ca- --g cag (Q) length of cdnaseq after deletion = 1074 ter codon is tga at posn 358 Protein length after deletion = 357 Total no. of codons in del cdnaseq = 358 last codon in array is tga gag (E) acg (T) cag (Q) cag (Q) aag (K) gtg (V) ctg (L) gag (E) gag (E) acg (T) cag (Q) aag (K) gtg (V) ctg (L) wild type sequence in deletion region: cag (Q) cag (Q) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cag (Q) 312 Q 312 Q - haematopoietic_and_lymphoid_tissue CEBPA 3 c.311_313delGCG p.G104del length of cdnaseq = 1077 length of protseq = 358 311 313 GCG 3 104 2 105 1 gcg Total no. of codons in cdna seq = 359 ggc gac start g-g end g-a g-- -ac gac (D) length of cdnaseq after deletion = 1074 ter codon is tga at posn 358 Protein length after deletion = 357 Total no. of codons in del cdnaseq = 358 last codon in array is tga ggc (G) ggc (G) ggc (G) gac (D) ttt (F) gac (D) tac (Y) ccg (P) ggc (G) ggc (G) gac (D) ttt (F) gac (D) tac (Y) wild type sequence in deletion region: ggc (G) gac (D) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ggc (G) 104 G 104 G - haematopoietic_and_lymphoid_tissue CEBPA 3 c.921_926delCGTGGA p.R306_N307del length of cdnaseq = 1077 length of protseq = 358 921 926 CGTGGA 6 307 3 309 2 cgtgga Total no. of codons in cdna seq = 359 aac gag start a-c end a-g aa- --g aag (K) length of cdnaseq after deletion = 1071 ter codon is tga at posn 357 Protein length after deletion = 356 Total no. of codons in del cdnaseq = 357 last codon in array is tga cag (Q) cgc (R) aac (N) gag (E) acg (T) cag (Q) cag (Q) aag (K) cag (Q) cgc (R) aag (K) acg (T) cag (Q) cag (Q) wild type sequence in deletion region: aac (N) gtg (V) gag (E) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : aac (N) 306 R 307 N N R 3 haematopoietic_and_lymphoid_tissue CEBPA c.921_926delCGTGGA p.R306_N307del haematopoietic_and_lymphoid_tissue CEBPA 3 c.934_936delCAG p.Q312del length of cdnaseq = 1077 length of protseq = 358 934 936 CAG 3 312 1 312 3 cag Total no. of codons in cdna seq = 359 cag cag prev g start g-c post a end g-a --- --- No joining codon length of cdnaseq after deletion = 1074 ter codon is tga at posn 358 Protein length after deletion = 357 Total no. of codons in del cdnaseq = 358 last codon in array is tga acg (T) cag (Q) cag (Q) cag (Q) aag (K) gtg (V) ctg (L) gag (E) acg (T) cag (Q) aag (K) gtg (V) ctg (L) gag (E) wild type sequence in deletion region: cag (Q) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : cag (Q) 312 Q 312 Q - haematopoietic_and_lymphoid_tissue CEBPA 4 c.562_564delCCG p.P188del length of cdnaseq = 1077 length of protseq = 358 562 564 CCG 3 188 1 188 3 ccg Total no. of codons in cdna seq = 359 ccg ccg prev g start g-c post c end g-c --- --- No joining codon length of cdnaseq after deletion = 1074 ter codon is tga at posn 358 Protein length after deletion = 357 Total no. of codons in del cdnaseq = 358 last codon in array is tga ccg (P) ccg (P) ccg (P) ccg (P) ccc (P) tcg (S) cac (H) ccg (P) ccg (P) ccg (P) ccc (P) tcg (S) cac (H) ccg (P) wild type sequence in deletion region: ccg (P) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gtg (V) 188 P 188 P - V P 4 haematopoietic_and_lymphoid_tissue CEBPA c.562_564delCCG p.P188del haematopoietic_and_lymphoid_tissue CEBPA 6 c.937_939delAAG p.K313del length of cdnaseq = 1077 length of protseq = 358 937 939 AAG 3 313 1 313 3 aag Total no. of codons in cdna seq = 359 aag aag prev g start g-a post g end g-g --- --- No joining codon length of cdnaseq after deletion = 1074 ter codon is tga at posn 358 Protein length after deletion = 357 Total no. of codons in del cdnaseq = 358 last codon in array is tga cag (Q) cag (Q) aag (K) aag (K) gtg (V) ctg (L) gag (E) ctg (L) cag (Q) cag (Q) gtg (V) ctg (L) gag (E) ctg (L) wild type sequence in deletion region: aag (K) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : aag (K) 313 K 313 K - haematopoietic_and_lymphoid_tissue CEBPA 2 c.917_934del18 p.R306fs*48 length of cdnaseq = 1077 length of protseq = 358 917 934 18 18 306 2 312 1 gcaacgtggagacgcagc Total no. of codons in cdna seq = 359 cgc cag start c-g end c-a c-- -ag cag (Q) length of cdnaseq after deletion = 1059 ter codon is tga at posn 353 Protein length after deletion = 352 Total no. of codons in del cdnaseq = 353 last codon in array is tga aag (K) cag (Q) cgc (R) cag (Q) aag (K) gtg (V) ctg (L) gag (E) aag (K) cag (Q) cag (Q) aag (K) gtg (V) ctg (L) wild type sequence in deletion region: cgc (R) aac (N) gtg (V) gag (E) acg (T) cag (Q) cag (Q) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : cgc (R) 306 R 353 * 48 breast CTNNA1 1 c.106_588del483 p.V36_Q196del length of cdnaseq = 2721 length of protseq = 906 106 588 483 483 36 1 196 3 gttacaacccttgtaaacaccaatagtaaagggccctctaataagaagagaggtcgttctaagaaggcccatgttttggctgcatctgttgaacaagcaactgagaatttcttggagaagggggataaaattgcgaaggagagccagtttctcaaggaggagcttgtggctgctgtagaagatgttcgaaaacaaggtgatttgatgaaggctgctgcaggagagttcgcagatgatccctgctcttctgtgaagcgaggcaacatggttcgggcagctcgagctttgctctctgctgttacccggttgctgattttggctgacatggcagatgtctacaaattacttgttcagctgaaagttgtggaagatggtatcttgaagttgaggaatgctggcaatgaacaagacttaggaatccagtataaagccctaaaacctgaagtggataagctgaacattatggcagccaaaagacaacag Total no. of codons in cdna seq = 907 gtt cag prev g start g-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2238 ter codon is taa at posn 746 Protein length after deletion = 745 Total no. of codons in del cdnaseq = 746 last codon in array is taa aca (T) cag (Q) gtt (V) cag (Q) gaa (E) ttg (L) aaa (K) gat (D) aca (T) cag (Q) gaa (E) ttg (L) aaa (K) gat (D) wild type sequence in deletion region: gtt (V) aca (T) acc (T) ctt (L) gta (V) aac (N) acc (T) aat (N) agt (S) aaa (K) ggg (G) ccc (P) tct (S) aat (N) aag (K) aag (K) aga (R) ggt (G) cgt (R) tct (S) aag (K) aag (K) gcc (A) cat (H) gtt (V) ttg (L) gct (A) gca (A) tct (S) gtt (V) gaa (E) caa (Q) gca (A) act (T) gag (E) aat (N) ttc (F) ttg (L) gag (E) aag (K) ggg (G) gat (D) aaa (K) att (I) gcg (A) aag (K) gag (E) agc (S) cag (Q) ttt (F) ctc (L) aag (K) gag (E) gag (E) ctt (L) gtg (V) gct (A) gct (A) gta (V) gaa (E) gat (D) gtt (V) cga (R) aaa (K) caa (Q) ggt (G) gat (D) ttg (L) atg (M) aag (K) gct (A) gct (A) gca (A) gga (G) gag (E) ttc (F) gca (A) gat (D) gat (D) ccc (P) tgc (C) tct (S) tct (S) gtg (V) aag (K) cga (R) ggc (G) aac (N) atg (M) gtt (V) cgg (R) gca (A) gct (A) cga (R) gct (A) ttg (L) ctc (L) tct (S) gct (A) gtt (V) acc (T) cgg (R) ttg (L) ctg (L) att (I) ttg (L) gct (A) gac (D) atg (M) gca (A) gat (D) gtc (V) tac (Y) aaa (K) tta (L) ctt (L) gtt (V) cag (Q) ctg (L) aaa (K) gtt (V) gtg (V) gaa (E) gat (D) ggt (G) atc (I) ttg (L) aag (K) ttg (L) agg (R) aat (N) gct (A) ggc (G) aat (N) gaa (E) caa (Q) gac (D) tta (L) gga (G) atc (I) cag (Q) tat (Y) aaa (K) gcc (A) cta (L) aaa (K) cct (P) gaa (E) gtg (V) gat (D) aag (K) ctg (L) aac (N) att (I) atg (M) gca (A) gcc (A) aaa (K) aga (R) caa (Q) cag (Q) wt inframe deln region length = 161 first wt aa affected by inframe deletion is : gtt (V) 36 V 196 Q large_intestine CTNNB1 11 c.133_135delTCT p.S45del length of cdnaseq = 2346 length of protseq = 781 133 135 TCT 3 45 1 45 3 tct Total no. of codons in cdna seq = 782 tct tct prev t start t-t post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa gct (A) cct (P) tct (S) tct (S) ctg (L) agt (S) ggt (G) aaa (K) gct (A) cct (P) ctg (L) agt (S) ggt (G) aaa (K) wild type sequence in deletion region: tct (S) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tct (S) 45 S 45 S - large_intestine CTNNB1 13 c.14_241del228 p.A5_A80del length of cdnaseq = 2346 length of protseq = 781 14 241 228 228 5 2 81 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctg Total no. of codons in cdna seq = 782 gct gat start g-c end g-a g-- -at gat (D) length of cdnaseq after deletion = 2118 ter codon is taa at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 706 last codon in array is taa act (T) caa (Q) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) act (T) caa (Q) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) wt inframe deln region length = 77 first wt aa affected by inframe deletion is : gct (A) 5 A 80 A adrenal_gland CTNNB1 1 c.134_139delCTCTGA p.S45_S47>C length of cdnaseq = 2346 length of protseq = 781 134 139 CTCTGA 6 45 2 47 1 ctctga Total no. of codons in cdna seq = 782 tct agt start t-c end a-g t-- -gt tgt (C) length of cdnaseq after deletion = 2340 ter codon is taa at posn 780 Protein length after deletion = 779 Total no. of codons in del cdnaseq = 780 last codon in array is taa gct (A) cct (P) tct (S) agt (S) ggt (G) aaa (K) ggc (G) aat (N) gct (A) cct (P) tgt (C) ggt (G) aaa (K) ggc (G) wild type sequence in deletion region: tct (S) ctg (L) agt (S) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : tct (S) 45 S 47 S C endometrium CTNNB1 1 c.133_135delTCT p.S45del length of cdnaseq = 2346 length of protseq = 781 133 135 TCT 3 45 1 45 3 tct Total no. of codons in cdna seq = 782 tct tct prev t start t-t post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa gct (A) cct (P) tct (S) tct (S) ctg (L) agt (S) ggt (G) aaa (K) gct (A) cct (P) ctg (L) agt (S) ggt (G) aaa (K) wild type sequence in deletion region: tct (S) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tct (S) 45 S 45 S - endometrium CTNNB1 1 c.94_96delGAC p.D32del length of cdnaseq = 2346 length of protseq = 781 94 96 GAC 3 32 1 32 3 gac Total no. of codons in cdna seq = 782 gac gac prev g start g-g post t end c-t --- --- No joining codon length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa tac (Y) ctg (L) gac (D) gac (D) tct (S) gga (G) atc (I) cat (H) tac (Y) ctg (L) tct (S) gga (G) atc (I) cat (H) wild type sequence in deletion region: gac (D) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gac (D) 32 D 32 D - kidney CTNNB1 1 c.130_153del24 p.P44_N51del length of cdnaseq = 2346 length of protseq = 781 130 153 24 24 44 1 51 3 ccttctctgagtggtaaaggcaat Total no. of codons in cdna seq = 782 cct aat prev t start t-c post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2322 ter codon is taa at posn 774 Protein length after deletion = 773 Total no. of codons in del cdnaseq = 774 last codon in array is taa aca (T) gct (A) cct (P) aat (N) cct (P) gag (E) gaa (E) gag (E) aca (T) gct (A) cct (P) gag (E) gaa (E) gag (E) wild type sequence in deletion region: cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : tct (S) 44 P 51 N S P 1 kidney CTNNB1 c.130_153del24 p.P44_N51del kidney CTNNB1 1 c.131_133delCTT p.S45del length of cdnaseq = 2346 length of protseq = 781 131 133 CTT 3 44 2 45 1 ctt Total no. of codons in cdna seq = 782 cct tct start c-c end t-c c-- -ct cct (P) length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) aca (T) gct (A) cct (P) ctg (L) agt (S) ggt (G) wild type sequence in deletion region: cct (P) tct (S) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : tct (S) 45 S 45 S - large_intestine CTNNB1 1 c.127_129delGCT p.A43del length of cdnaseq = 2346 length of protseq = 781 127 129 GCT 3 43 1 43 3 gct Total no. of codons in cdna seq = 782 gct gct prev a start a-g post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa acc (T) aca (T) gct (A) gct (A) cct (P) tct (S) ctg (L) agt (S) acc (T) aca (T) cct (P) tct (S) ctg (L) agt (S) wild type sequence in deletion region: gct (A) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gct (A) 43 A 43 A - large_intestine CTNNB1 1 c.130_132delCCT p.P44del length of cdnaseq = 2346 length of protseq = 781 130 132 CCT 3 44 1 44 3 cct Total no. of codons in cdna seq = 782 cct cct prev t start t-c post t end t-t --- --- No joining codon length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa aca (T) gct (A) cct (P) cct (P) tct (S) ctg (L) agt (S) ggt (G) aca (T) gct (A) tct (S) ctg (L) agt (S) ggt (G) wild type sequence in deletion region: cct (P) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : cct (P) 44 P 44 P - large_intestine CTNNB1 1 c.134_136delCTC p.S45del length of cdnaseq = 2346 length of protseq = 781 134 136 CTC 3 45 2 46 1 ctc Total no. of codons in cdna seq = 782 tct ctg start t-c end c-t t-- -tg ttg (L) length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) gct (A) cct (P) ttg (L) agt (S) ggt (G) aaa (K) wild type sequence in deletion region: tct (S) ctg (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : tct (S) 45 S 45 S - large_intestine CTNNB1 1 c.70_114del45 p.H24_G38del length of cdnaseq = 2346 length of protseq = 781 70 114 45 45 24 1 38 3 cactggcagcaacagtcttacctggactctggaatccattctggt Total no. of codons in cdna seq = 782 cac ggt prev t start t-c post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2301 ter codon is taa at posn 767 Protein length after deletion = 766 Total no. of codons in del cdnaseq = 767 last codon in array is taa gtt (V) agt (S) cac (H) ggt (G) gcc (A) act (T) acc (T) aca (T) gtt (V) agt (S) gcc (A) act (T) acc (T) aca (T) wild type sequence in deletion region: cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) wt inframe deln region length = 15 first wt aa affected by inframe deletion is : cac (H) 24 H 38 G liver CTNNB1 1 c.102_113del12 p.I35_G38del length of cdnaseq = 2346 length of protseq = 781 102 113 12 12 34 3 38 2 aatccattctgg Total no. of codons in cdna seq = 782 gga ggt start g-a end g-t gg- --t ggt (G) length of cdnaseq after deletion = 2334 ter codon is taa at posn 778 Protein length after deletion = 777 Total no. of codons in del cdnaseq = 778 last codon in array is taa gac (D) tct (S) gga (G) ggt (G) gcc (A) act (T) acc (T) aca (T) gac (D) tct (S) ggt (G) gcc (A) act (T) acc (T) wild type sequence in deletion region: gga (G) atc (I) cat (H) tct (S) ggt (G) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : atc (I) 35 I 38 G liver CTNNB1 1 c.102_122del21 p.I35_T41del length of cdnaseq = 2346 length of protseq = 781 102 122 21 21 34 3 41 2 aatccattctggtgccactac Total no. of codons in cdna seq = 782 gga acc start g-a end c-c gg- --c ggc (G) length of cdnaseq after deletion = 2325 ter codon is taa at posn 775 Protein length after deletion = 774 Total no. of codons in del cdnaseq = 775 last codon in array is taa gac (D) tct (S) gga (G) acc (T) aca (T) gct (A) cct (P) tct (S) gac (D) tct (S) ggc (G) aca (T) gct (A) cct (P) wild type sequence in deletion region: gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : atc (I) 35 I 41 T liver CTNNB1 1 c.103_510del408 p.I35_K170del length of cdnaseq = 2346 length of protseq = 781 103 510 408 408 35 1 170 3 atccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgattaactatcaagatgatgcagaacttgccacacgtgcaatccctgaactgacaaaactgctaaatgacgaggaccaggtggtggttaataag Total no. of codons in cdna seq = 782 atc aag prev a start a-a post g end g-g --- --- No joining codon length of cdnaseq after deletion = 1938 ter codon is taa at posn 646 Protein length after deletion = 645 Total no. of codons in del cdnaseq = 646 last codon in array is taa tct (S) gga (G) atc (I) aag (K) gct (A) gca (A) gtt (V) atg (M) tct (S) gga (G) gct (A) gca (A) gtt (V) atg (M) wild type sequence in deletion region: atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) tat (Y) caa (Q) gat (D) gat (D) gca (A) gaa (E) ctt (L) gcc (A) aca (T) cgt (R) gca (A) atc (I) cct (P) gaa (E) ctg (L) aca (T) aaa (K) ctg (L) cta (L) aat (N) gac (D) gag (E) gac (D) cag (Q) gtg (V) gtg (V) gtt (V) aat (N) aag (K) wt inframe deln region length = 136 first wt aa affected by inframe deletion is : atc (I) 35 I 170 K liver CTNNB1 1 c.104_109delTCCATT p.I35_S37>T length of cdnaseq = 2346 length of protseq = 781 104 109 TCCATT 6 35 2 37 1 tccatt Total no. of codons in cdna seq = 782 atc tct start a-t end t-c a-- -ct act (T) length of cdnaseq after deletion = 2340 ter codon is taa at posn 780 Protein length after deletion = 779 Total no. of codons in del cdnaseq = 780 last codon in array is taa tct (S) gga (G) atc (I) tct (S) ggt (G) gcc (A) act (T) acc (T) tct (S) gga (G) act (T) ggt (G) gcc (A) act (T) wild type sequence in deletion region: atc (I) cat (H) tct (S) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : atc (I) 35 I 37 S T liver CTNNB1 1 c.118_138del21 p.T40_L46del length of cdnaseq = 2346 length of protseq = 781 118 138 21 21 40 1 46 3 actaccacagctccttctctg Total no. of codons in cdna seq = 782 act ctg prev c start c-a post a end g-a --- --- No joining codon length of cdnaseq after deletion = 2325 ter codon is taa at posn 775 Protein length after deletion = 774 Total no. of codons in del cdnaseq = 775 last codon in array is taa ggt (G) gcc (A) act (T) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) ggt (G) gcc (A) agt (S) ggt (G) aaa (K) ggc (G) wild type sequence in deletion region: act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : act (T) 40 T 46 L liver CTNNB1 1 c.13_240del228 p.A5_A80del length of cdnaseq = 2346 length of protseq = 781 13 240 228 228 5 1 80 3 gctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagct Total no. of codons in cdna seq = 782 gct gct prev a start a-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2118 ter codon is taa at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 706 last codon in array is taa act (T) caa (Q) gct (A) gct (A) gat (D) att (I) gat (D) gga (G) act (T) caa (Q) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) wt inframe deln region length = 76 first wt aa affected by inframe deletion is : gct (A) 5 A 80 A liver CTNNB1 1 c.133_135delTCT p.S45del length of cdnaseq = 2346 length of protseq = 781 133 135 TCT 3 45 1 45 3 tct Total no. of codons in cdna seq = 782 tct tct prev t start t-t post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa gct (A) cct (P) tct (S) tct (S) ctg (L) agt (S) ggt (G) aaa (K) gct (A) cct (P) ctg (L) agt (S) ggt (G) aaa (K) wild type sequence in deletion region: tct (S) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tct (S) 45 S 45 S - liver CTNNB1 1 c.133_138delTCTCTG p.S45_L46del length of cdnaseq = 2346 length of protseq = 781 133 138 TCTCTG 6 45 1 46 3 tctctg Total no. of codons in cdna seq = 782 tct ctg prev t start t-t post a end g-a --- --- No joining codon length of cdnaseq after deletion = 2340 ter codon is taa at posn 780 Protein length after deletion = 779 Total no. of codons in del cdnaseq = 780 last codon in array is taa gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) gct (A) cct (P) agt (S) ggt (G) aaa (K) ggc (G) wild type sequence in deletion region: tct (S) ctg (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ctg (L) 45 S 46 L L S 1 liver CTNNB1 c.133_138delTCTCTG p.S45_L46del liver CTNNB1 1 c.133_144del12 p.S45_G48del length of cdnaseq = 2346 length of protseq = 781 133 144 12 12 45 1 48 3 tctctgagtggt Total no. of codons in cdna seq = 782 tct ggt prev t start t-t post a end t-a --- --- No joining codon length of cdnaseq after deletion = 2334 ter codon is taa at posn 778 Protein length after deletion = 777 Total no. of codons in del cdnaseq = 778 last codon in array is taa gct (A) cct (P) tct (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gct (A) cct (P) aaa (K) ggc (G) aat (N) cct (P) wild type sequence in deletion region: tct (S) ctg (L) agt (S) ggt (G) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : tct (S) 45 S 48 G liver CTNNB1 1 c.133_174del42 p.S45_D58del length of cdnaseq = 2346 length of protseq = 781 133 174 42 42 45 1 58 3 tctctgagtggtaaaggcaatcctgaggaagaggatgtggat Total no. of codons in cdna seq = 782 tct gat prev t start t-t post a end t-a --- --- No joining codon length of cdnaseq after deletion = 2304 ter codon is taa at posn 768 Protein length after deletion = 767 Total no. of codons in del cdnaseq = 768 last codon in array is taa gct (A) cct (P) tct (S) gat (D) acc (T) tcc (S) caa (Q) gtc (V) gct (A) cct (P) acc (T) tcc (S) caa (Q) gtc (V) wild type sequence in deletion region: tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) wt inframe deln region length = 14 first wt aa affected by inframe deletion is : tct (S) 45 S 58 D liver CTNNB1 1 c.136_141delCTGAGT p.L46_S47del length of cdnaseq = 2346 length of protseq = 781 136 141 CTGAGT 6 46 1 47 3 ctgagt Total no. of codons in cdna seq = 782 ctg agt prev t start t-c post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2340 ter codon is taa at posn 780 Protein length after deletion = 779 Total no. of codons in del cdnaseq = 780 last codon in array is taa cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) tct (S) ggt (G) aaa (K) ggc (G) aat (N) wild type sequence in deletion region: ctg (L) agt (S) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ctg (L) 46 L 47 S liver CTNNB1 1 c.14_106del93 p.A5_I35del length of cdnaseq = 2346 length of protseq = 781 14 106 93 93 5 2 36 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatcc Total no. of codons in cdna seq = 782 gct cat start g-c end c-a g-- -at gat (D) length of cdnaseq after deletion = 2253 ter codon is taa at posn 751 Protein length after deletion = 750 Total no. of codons in del cdnaseq = 751 last codon in array is taa act (T) caa (Q) gct (A) cat (H) tct (S) ggt (G) gcc (A) act (T) act (T) caa (Q) gat (D) tct (S) ggt (G) gcc (A) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) wt inframe deln region length = 32 first wt aa affected by inframe deletion is : gct (A) 5 A 35 I liver CTNNB1 1 c.14_121del108 p.A5_T40del length of cdnaseq = 2346 length of protseq = 781 14 121 108 108 5 2 41 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccacta Total no. of codons in cdna seq = 782 gct acc start g-c end a-c g-- -cc gcc (A) length of cdnaseq after deletion = 2238 ter codon is taa at posn 746 Protein length after deletion = 745 Total no. of codons in del cdnaseq = 746 last codon in array is taa act (T) caa (Q) gct (A) acc (T) aca (T) gct (A) cct (P) tct (S) act (T) caa (Q) gcc (A) aca (T) gct (A) cct (P) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) wt inframe deln region length = 37 first wt aa affected by inframe deletion is : gat (D) 5 A 40 T D A 1 liver CTNNB1 c.14_121del108 p.A5_T40del liver CTNNB1 1 c.14_163del150 p.A5_E54del length of cdnaseq = 2346 length of protseq = 781 14 163 150 150 5 2 55 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaag Total no. of codons in cdna seq = 782 gct gag start g-c end g-a g-- -ag gag (E) length of cdnaseq after deletion = 2196 ter codon is taa at posn 732 Protein length after deletion = 731 Total no. of codons in del cdnaseq = 732 last codon in array is taa act (T) caa (Q) gct (A) gag (E) gat (D) gtg (V) gat (D) acc (T) act (T) caa (Q) gag (E) gat (D) gtg (V) gat (D) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) wt inframe deln region length = 51 first wt aa affected by inframe deletion is : gct (A) 5 A 54 E liver CTNNB1 1 c.14_178del165 p.A5_T59del length of cdnaseq = 2346 length of protseq = 781 14 178 165 165 5 2 60 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacct Total no. of codons in cdna seq = 782 gct tcc start g-c end t-c g-- -cc gcc (A) length of cdnaseq after deletion = 2181 ter codon is taa at posn 727 Protein length after deletion = 726 Total no. of codons in del cdnaseq = 727 last codon in array is taa act (T) caa (Q) gct (A) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) act (T) caa (Q) gcc (A) caa (Q) gtc (V) ctg (L) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) wt inframe deln region length = 56 first wt aa affected by inframe deletion is : gat (D) 5 A 59 T D A 1 liver CTNNB1 c.14_178del165 p.A5_T59del liver CTNNB1 1 c.14_241del228 p.A5_A80>D length of cdnaseq = 2346 length of protseq = 781 14 241 228 228 5 2 81 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctg Total no. of codons in cdna seq = 782 gct gat start g-c end g-a g-- -at gat (D) length of cdnaseq after deletion = 2118 ter codon is taa at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 706 last codon in array is taa act (T) caa (Q) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) act (T) caa (Q) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) wt inframe deln region length = 77 first wt aa affected by inframe deletion is : gct (A) 5 A 80 A D liver CTNNB1 1 c.14_241del228 p.A5_A80>D length of cdnaseq = 2346 length of protseq = 781 14 241 228 228 5 2 81 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctg Total no. of codons in cdna seq = 782 gct gat start g-c end g-a g-- -at gat (D) length of cdnaseq after deletion = 2118 ter codon is taa at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 706 last codon in array is taa act (T) caa (Q) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) act (T) caa (Q) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) wt inframe deln region length = 77 first wt aa affected by inframe deletion is : gct (A) 5 A 80 A D liver CTNNB1 1 c.14_241del228 p.A5_A80del length of cdnaseq = 2346 length of protseq = 781 14 241 228 228 5 2 81 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctg Total no. of codons in cdna seq = 782 gct gat start g-c end g-a g-- -at gat (D) length of cdnaseq after deletion = 2118 ter codon is taa at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 706 last codon in array is taa act (T) caa (Q) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) act (T) caa (Q) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) wt inframe deln region length = 77 first wt aa affected by inframe deletion is : gct (A) 5 A 80 A liver CTNNB1 1 c.14_427del414 p.A5_Q143>E length of cdnaseq = 2346 length of protseq = 781 14 427 414 414 5 2 143 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgattaactatc Total no. of codons in cdna seq = 782 gct caa start g-c end c-a g-- -aa gaa (E) length of cdnaseq after deletion = 1932 ter codon is taa at posn 644 Protein length after deletion = 643 Total no. of codons in del cdnaseq = 644 last codon in array is taa act (T) caa (Q) gct (A) caa (Q) gat (D) gat (D) gca (A) gaa (E) act (T) caa (Q) gaa (E) gat (D) gat (D) gca (A) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) tat (Y) caa (Q) wt inframe deln region length = 139 first wt aa affected by inframe deletion is : gct (A) 5 A 143 Q E liver CTNNB1 1 c.14_430del417 p.A5_D144>D length of cdnaseq = 2346 length of protseq = 781 14 430 417 417 5 2 144 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgattaactatcaag Total no. of codons in cdna seq = 782 gct gat start g-c end g-a g-- -at gat (D) length of cdnaseq after deletion = 1929 ter codon is taa at posn 643 Protein length after deletion = 642 Total no. of codons in del cdnaseq = 643 last codon in array is taa act (T) caa (Q) gct (A) gat (D) gat (D) gca (A) gaa (E) ctt (L) act (T) caa (Q) gat (D) gat (D) gca (A) gaa (E) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) tat (Y) caa (Q) gat (D) wt inframe deln region length = 140 first wt aa affected by inframe deletion is : gct (A) 5 A 144 D D liver CTNNB1 1 c.14_85del72 p.D6_S29del length of cdnaseq = 2346 length of protseq = 781 14 85 72 72 5 2 29 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagt Total no. of codons in cdna seq = 782 gct tct start g-c end t-c g-- -ct gct (A) length of cdnaseq after deletion = 2274 ter codon is taa at posn 758 Protein length after deletion = 757 Total no. of codons in del cdnaseq = 758 last codon in array is taa act (T) caa (Q) gct (A) tct (S) tac (Y) ctg (L) gac (D) tct (S) act (T) caa (Q) gct (A) tac (Y) ctg (L) gac (D) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) wt inframe deln region length = 25 first wt aa affected by inframe deletion is : gat (D) 6 D 29 S liver CTNNB1 1 c.22_240del219 p.M8_A80del length of cdnaseq = 2346 length of protseq = 781 22 240 219 219 8 1 80 3 atggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagct Total no. of codons in cdna seq = 782 atg gct prev g start g-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2127 ter codon is taa at posn 709 Protein length after deletion = 708 Total no. of codons in del cdnaseq = 709 last codon in array is taa gat (D) ttg (L) atg (M) gct (A) gat (D) att (I) gat (D) gga (G) gat (D) ttg (L) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) wt inframe deln region length = 73 first wt aa affected by inframe deletion is : atg (M) 8 M 80 A liver CTNNB1 1 c.28_423del396 p.L10_N141del length of cdnaseq = 2346 length of protseq = 781 28 423 396 396 10 1 141 3 ttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgattaac Total no. of codons in cdna seq = 782 ttg aac prev g start g-t post t end c-t --- --- No joining codon length of cdnaseq after deletion = 1950 ter codon is taa at posn 650 Protein length after deletion = 649 Total no. of codons in del cdnaseq = 650 last codon in array is taa atg (M) gag (E) ttg (L) aac (N) tat (Y) caa (Q) gat (D) gat (D) atg (M) gag (E) tat (Y) caa (Q) gat (D) gat (D) wild type sequence in deletion region: ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) wt inframe deln region length = 132 first wt aa affected by inframe deletion is : ttg (L) 10 L 141 N liver CTNNB1 1 c.29_424del396 p.L10_N141del length of cdnaseq = 2346 length of protseq = 781 29 424 396 396 10 2 142 1 tggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgattaact Total no. of codons in cdna seq = 782 ttg tat start t-t end t-a t-- -at tat (Y) length of cdnaseq after deletion = 1950 ter codon is taa at posn 650 Protein length after deletion = 649 Total no. of codons in del cdnaseq = 650 last codon in array is taa atg (M) gag (E) ttg (L) tat (Y) caa (Q) gat (D) gat (D) gca (A) atg (M) gag (E) tat (Y) caa (Q) gat (D) gat (D) wild type sequence in deletion region: ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) tat (Y) wt inframe deln region length = 133 first wt aa affected by inframe deletion is : ttg (L) 10 L 141 N liver CTNNB1 1 c.37_453del417 p.A13_R151del length of cdnaseq = 2346 length of protseq = 781 37 453 417 417 13 1 151 3 gccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgattaactatcaagatgatgcagaacttgccacacgt Total no. of codons in cdna seq = 782 gcc cgt prev g start g-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 1929 ter codon is taa at posn 643 Protein length after deletion = 642 Total no. of codons in del cdnaseq = 643 last codon in array is taa gac (D) atg (M) gcc (A) cgt (R) gca (A) atc (I) cct (P) gaa (E) gac (D) atg (M) gca (A) atc (I) cct (P) gaa (E) wild type sequence in deletion region: gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) tat (Y) caa (Q) gat (D) gat (D) gca (A) gaa (E) ctt (L) gcc (A) aca (T) cgt (R) wt inframe deln region length = 139 first wt aa affected by inframe deletion is : atg (M) 13 A 151 R M A 1 liver CTNNB1 c.37_453del417 p.A13_R151del liver CTNNB1 1 c.40_135del96 p.M14_S45del length of cdnaseq = 2346 length of protseq = 781 40 135 96 96 14 1 45 3 atggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttct Total no. of codons in cdna seq = 782 atg tct prev c start c-a post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2250 ter codon is taa at posn 750 Protein length after deletion = 749 Total no. of codons in del cdnaseq = 750 last codon in array is taa atg (M) gcc (A) atg (M) tct (S) ctg (L) agt (S) ggt (G) aaa (K) atg (M) gcc (A) ctg (L) agt (S) ggt (G) aaa (K) wild type sequence in deletion region: atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) wt inframe deln region length = 32 first wt aa affected by inframe deletion is : atg (M) 14 M 45 S liver CTNNB1 1 c.44_418del375 p.E15_I140>V length of cdnaseq = 2346 length of protseq = 781 44 418 375 375 15 2 140 1 aaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttga Total no. of codons in cdna seq = 782 gaa att start g-a end a-t g-- -tt gtt (V) length of cdnaseq after deletion = 1971 ter codon is taa at posn 657 Protein length after deletion = 656 Total no. of codons in del cdnaseq = 657 last codon in array is taa gcc (A) atg (M) gaa (E) att (I) aac (N) tat (Y) caa (Q) gat (D) gcc (A) atg (M) gtt (V) aac (N) tat (Y) caa (Q) wild type sequence in deletion region: gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) wt inframe deln region length = 126 first wt aa affected by inframe deletion is : gaa (E) 15 E 140 I V liver CTNNB1 1 c.46_399del354 p.P16_K133del length of cdnaseq = 2346 length of protseq = 781 46 399 354 354 16 1 133 3 ccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaa Total no. of codons in cdna seq = 782 cca aaa prev a start a-c post c end a-c --- --- No joining codon length of cdnaseq after deletion = 1992 ter codon is taa at posn 664 Protein length after deletion = 663 Total no. of codons in del cdnaseq = 664 last codon in array is taa atg (M) gaa (E) cca (P) aaa (K) cat (H) gca (A) gtt (V) gta (V) atg (M) gaa (E) cat (H) gca (A) gtt (V) gta (V) wild type sequence in deletion region: cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) wt inframe deln region length = 118 first wt aa affected by inframe deletion is : cca (P) 16 P 133 K liver CTNNB1 1 c.58_105del48 p.A20_I35del length of cdnaseq = 2346 length of protseq = 781 58 105 48 48 20 1 35 3 gcggctgttagtcactggcagcaacagtcttacctggactctggaatc Total no. of codons in cdna seq = 782 gcg atc prev a start a-g post c end c-c --- --- No joining codon length of cdnaseq after deletion = 2298 ter codon is taa at posn 766 Protein length after deletion = 765 Total no. of codons in del cdnaseq = 766 last codon in array is taa aga (R) aaa (K) gcg (A) atc (I) cat (H) tct (S) ggt (G) gcc (A) aga (R) aaa (K) cat (H) tct (S) ggt (G) gcc (A) wild type sequence in deletion region: gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) wt inframe deln region length = 16 first wt aa affected by inframe deletion is : gcg (A) 20 A 35 I liver CTNNB1 1 c.58_240del183 p.A20_A80del length of cdnaseq = 2346 length of protseq = 781 58 240 183 183 20 1 80 3 gcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagct Total no. of codons in cdna seq = 782 gcg gct prev a start a-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2163 ter codon is taa at posn 721 Protein length after deletion = 720 Total no. of codons in del cdnaseq = 721 last codon in array is taa aga (R) aaa (K) gcg (A) gct (A) gat (D) att (I) gat (D) gga (G) aga (R) aaa (K) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) wt inframe deln region length = 61 first wt aa affected by inframe deletion is : gcg (A) 20 A 80 A liver CTNNB1 1 c.58_333del276 p.A20_S111del length of cdnaseq = 2346 length of protseq = 781 58 333 276 276 20 1 111 3 gcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatct Total no. of codons in cdna seq = 782 gcg tct prev a start a-g post a end t-a --- --- No joining codon length of cdnaseq after deletion = 2070 ter codon is taa at posn 690 Protein length after deletion = 689 Total no. of codons in del cdnaseq = 690 last codon in array is taa aga (R) aaa (K) gcg (A) tct (S) aca (T) cag (Q) ttt (F) gat (D) aga (R) aaa (K) aca (T) cag (Q) ttt (F) gat (D) wild type sequence in deletion region: gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) wt inframe deln region length = 92 first wt aa affected by inframe deletion is : gcg (A) 20 A 111 S liver CTNNB1 1 c.58_423del366 p.A20_N141del length of cdnaseq = 2346 length of protseq = 781 58 423 366 366 20 1 141 3 gcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgattaac Total no. of codons in cdna seq = 782 gcg aac prev a start a-g post t end c-t --- --- No joining codon length of cdnaseq after deletion = 1980 ter codon is taa at posn 660 Protein length after deletion = 659 Total no. of codons in del cdnaseq = 660 last codon in array is taa aga (R) aaa (K) gcg (A) aac (N) tat (Y) caa (Q) gat (D) gat (D) aga (R) aaa (K) tat (Y) caa (Q) gat (D) gat (D) wild type sequence in deletion region: gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) wt inframe deln region length = 122 first wt aa affected by inframe deletion is : gcg (A) 20 A 141 N liver CTNNB1 1 c.60_446del387 p.A20_L148del length of cdnaseq = 2346 length of protseq = 781 60 446 387 387 20 3 149 2 ggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgattaactatcaagatgatgcagaacttgc Total no. of codons in cdna seq = 782 gcg gcc start c-g end c-c gc- --c gcc (A) length of cdnaseq after deletion = 1959 ter codon is taa at posn 653 Protein length after deletion = 652 Total no. of codons in del cdnaseq = 653 last codon in array is taa aga (R) aaa (K) gcg (A) gcc (A) aca (T) cgt (R) gca (A) atc (I) aga (R) aaa (K) gcc (A) aca (T) cgt (R) gca (A) wild type sequence in deletion region: gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) tat (Y) caa (Q) gat (D) gat (D) gca (A) gaa (E) ctt (L) gcc (A) wt inframe deln region length = 130 first wt aa affected by inframe deletion is : gct (A) 20 A 148 L liver CTNNB1 1 c.64_306del243 p.V22_T102del length of cdnaseq = 2346 length of protseq = 781 64 306 243 243 22 1 102 3 gttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagaca Total no. of codons in cdna seq = 782 gtt aca prev t start t-g post t end a-t --- --- No joining codon length of cdnaseq after deletion = 2103 ter codon is taa at posn 701 Protein length after deletion = 700 Total no. of codons in del cdnaseq = 701 last codon in array is taa gcg (A) gct (A) gtt (V) aca (T) tta (L) gat (D) gag (E) ggc (G) gcg (A) gct (A) tta (L) gat (D) gag (E) ggc (G) wild type sequence in deletion region: gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) wt inframe deln region length = 81 first wt aa affected by inframe deletion is : gtt (V) 22 V 102 T liver CTNNB1 1 c.65_193del129 p.V22_Y64del length of cdnaseq = 2346 length of protseq = 781 65 193 129 129 22 2 65 1 ttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatg Total no. of codons in cdna seq = 782 gtt gag start g-t end g-a g-- -ag gag (E) length of cdnaseq after deletion = 2217 ter codon is taa at posn 739 Protein length after deletion = 738 Total no. of codons in del cdnaseq = 739 last codon in array is taa gcg (A) gct (A) gtt (V) gag (E) tgg (W) gaa (E) cag (Q) gga (G) gcg (A) gct (A) gag (E) tgg (W) gaa (E) cag (Q) wild type sequence in deletion region: gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) wt inframe deln region length = 44 first wt aa affected by inframe deletion is : gtt (V) 22 V 64 Y liver CTNNB1 1 c.65_211del147 p.V22_S71>A length of cdnaseq = 2346 length of protseq = 781 65 211 147 147 22 2 71 1 ttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggatttt Total no. of codons in cdna seq = 782 gtt tct start g-t end t-c g-- -ct gct (A) length of cdnaseq after deletion = 2199 ter codon is taa at posn 733 Protein length after deletion = 732 Total no. of codons in del cdnaseq = 733 last codon in array is taa gcg (A) gct (A) gtt (V) tct (S) cag (Q) tcc (S) ttc (F) act (T) gcg (A) gct (A) gct (A) cag (Q) tcc (S) ttc (F) wild type sequence in deletion region: gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) wt inframe deln region length = 50 first wt aa affected by inframe deletion is : gtt (V) 22 V 71 S A liver CTNNB1 1 c.67_117del51 p.S23_A39del length of cdnaseq = 2346 length of protseq = 781 67 117 51 51 23 1 39 3 agtcactggcagcaacagtcttacctggactctggaatccattctggtgcc Total no. of codons in cdna seq = 782 agt gcc prev t start t-a post a end c-a --- --- No joining codon length of cdnaseq after deletion = 2295 ter codon is taa at posn 765 Protein length after deletion = 764 Total no. of codons in del cdnaseq = 765 last codon in array is taa gct (A) gtt (V) agt (S) gcc (A) act (T) acc (T) aca (T) gct (A) gct (A) gtt (V) act (T) acc (T) aca (T) gct (A) wild type sequence in deletion region: agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) wt inframe deln region length = 17 first wt aa affected by inframe deletion is : agt (S) 23 S 39 A liver CTNNB1 1 c.70_393del324 p.H24_M131del length of cdnaseq = 2346 length of protseq = 781 70 393 324 324 24 1 131 3 cactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatg Total no. of codons in cdna seq = 782 cac atg prev t start t-c post c end g-c --- --- No joining codon length of cdnaseq after deletion = 2022 ter codon is taa at posn 674 Protein length after deletion = 673 Total no. of codons in del cdnaseq = 674 last codon in array is taa gtt (V) agt (S) cac (H) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) agt (S) ctg (L) aaa (K) cat (H) gca (A) wild type sequence in deletion region: cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) wt inframe deln region length = 108 first wt aa affected by inframe deletion is : cac (H) 24 H 131 M liver CTNNB1 1 c.70_93del24 p.H24_L31del length of cdnaseq = 2346 length of protseq = 781 70 93 24 24 24 1 31 3 cactggcagcaacagtcttacctg Total no. of codons in cdna seq = 782 cac ctg prev t start t-c post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2322 ter codon is taa at posn 774 Protein length after deletion = 773 Total no. of codons in del cdnaseq = 774 last codon in array is taa gtt (V) agt (S) cac (H) ctg (L) gac (D) tct (S) gga (G) atc (I) gtt (V) agt (S) gac (D) tct (S) gga (G) atc (I) wild type sequence in deletion region: cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : cac (H) 24 H 31 L liver CTNNB1 1 c.73_105del33 p.W25_I35del length of cdnaseq = 2346 length of protseq = 781 73 105 33 33 25 1 35 3 tggcagcaacagtcttacctggactctggaatc Total no. of codons in cdna seq = 782 tgg atc prev c start c-t post c end c-c --- --- No joining codon length of cdnaseq after deletion = 2313 ter codon is taa at posn 771 Protein length after deletion = 770 Total no. of codons in del cdnaseq = 771 last codon in array is taa agt (S) cac (H) tgg (W) atc (I) cat (H) tct (S) ggt (G) gcc (A) agt (S) cac (H) cat (H) tct (S) ggt (G) gcc (A) wild type sequence in deletion region: tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) wt inframe deln region length = 11 first wt aa affected by inframe deletion is : tgg (W) 25 W 35 I liver CTNNB1 1 c.73_99del27 p.W25_S33del length of cdnaseq = 2346 length of protseq = 781 73 99 27 27 25 1 33 3 tggcagcaacagtcttacctggactct Total no. of codons in cdna seq = 782 tgg tct prev c start c-t post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2319 ter codon is taa at posn 773 Protein length after deletion = 772 Total no. of codons in del cdnaseq = 773 last codon in array is taa agt (S) cac (H) tgg (W) tct (S) gga (G) atc (I) cat (H) tct (S) agt (S) cac (H) gga (G) atc (I) cat (H) tct (S) wild type sequence in deletion region: tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : tgg (W) 25 W 33 S liver CTNNB1 1 c.82_183del102 p.Q28_Q61del length of cdnaseq = 2346 length of protseq = 781 82 183 102 102 28 1 61 3 cagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaa Total no. of codons in cdna seq = 782 cag caa prev a start a-c post g end a-g --- --- No joining codon length of cdnaseq after deletion = 2244 ter codon is taa at posn 748 Protein length after deletion = 747 Total no. of codons in del cdnaseq = 748 last codon in array is taa cag (Q) caa (Q) cag (Q) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) cag (Q) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) wild type sequence in deletion region: cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) wt inframe deln region length = 34 first wt aa affected by inframe deletion is : cag (Q) 28 Q 61 Q liver CTNNB1 1 c.85_108del24 p.S29_H36del length of cdnaseq = 2346 length of protseq = 781 85 108 24 24 29 1 36 3 tcttacctggactctggaatccat Total no. of codons in cdna seq = 782 tct cat prev g start g-t post t end t-t --- --- No joining codon length of cdnaseq after deletion = 2322 ter codon is taa at posn 774 Protein length after deletion = 773 Total no. of codons in del cdnaseq = 774 last codon in array is taa caa (Q) cag (Q) tct (S) cat (H) tct (S) ggt (G) gcc (A) act (T) caa (Q) cag (Q) tct (S) ggt (G) gcc (A) act (T) wild type sequence in deletion region: tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : tac (Y) 29 S 36 H Y S 1 liver CTNNB1 c.85_108del24 p.S29_H36del liver CTNNB1 1 c.88_120del33 p.Y30_T40del length of cdnaseq = 2346 length of protseq = 781 88 120 33 33 30 1 40 3 tacctggactctggaatccattctggtgccact Total no. of codons in cdna seq = 782 tac act prev t start t-t post a end t-a --- --- No joining codon length of cdnaseq after deletion = 2313 ter codon is taa at posn 771 Protein length after deletion = 770 Total no. of codons in del cdnaseq = 771 last codon in array is taa cag (Q) tct (S) tac (Y) act (T) acc (T) aca (T) gct (A) cct (P) cag (Q) tct (S) acc (T) aca (T) gct (A) cct (P) wild type sequence in deletion region: tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) wt inframe deln region length = 11 first wt aa affected by inframe deletion is : tac (Y) 30 Y 40 T liver CTNNB1 1 c.88_291del204 p.Y30_A97del length of cdnaseq = 2346 length of protseq = 781 88 291 204 204 30 1 97 3 tacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgct Total no. of codons in cdna seq = 782 tac gct prev t start t-t post a end t-a --- --- No joining codon length of cdnaseq after deletion = 2142 ter codon is taa at posn 714 Protein length after deletion = 713 Total no. of codons in del cdnaseq = 714 last codon in array is taa cag (Q) tct (S) tac (Y) gct (A) atg (M) ttc (F) cct (P) gag (E) cag (Q) tct (S) atg (M) ttc (F) cct (P) gag (E) wild type sequence in deletion region: tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) wt inframe deln region length = 68 first wt aa affected by inframe deletion is : tac (Y) 30 Y 97 A liver CTNNB1 1 c.89_241del153 p.Y30_A80del length of cdnaseq = 2346 length of protseq = 781 89 241 153 153 30 2 81 1 acctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctg Total no. of codons in cdna seq = 782 tac gat start t-a end g-a t-- -at tat (Y) length of cdnaseq after deletion = 2193 ter codon is taa at posn 731 Protein length after deletion = 730 Total no. of codons in del cdnaseq = 731 last codon in array is taa cag (Q) tct (S) tac (Y) gat (D) att (I) gat (D) gga (G) cag (Q) cag (Q) tct (S) tat (Y) att (I) gat (D) gga (G) wild type sequence in deletion region: tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) wt inframe deln region length = 52 first wt aa affected by inframe deletion is : ctg (L) 30 Y 80 A L Y 1 liver CTNNB1 c.89_241del153 p.Y30_A80del liver CTNNB1 1 c.94_108del15 p.D32_H36del length of cdnaseq = 2346 length of protseq = 781 94 108 15 15 32 1 36 3 gactctggaatccat Total no. of codons in cdna seq = 782 gac cat prev g start g-g post t end t-t --- --- No joining codon length of cdnaseq after deletion = 2331 ter codon is taa at posn 777 Protein length after deletion = 776 Total no. of codons in del cdnaseq = 777 last codon in array is taa tac (Y) ctg (L) gac (D) cat (H) tct (S) ggt (G) gcc (A) act (T) tac (Y) ctg (L) tct (S) ggt (G) gcc (A) act (T) wild type sequence in deletion region: gac (D) tct (S) gga (G) atc (I) cat (H) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : gac (D) 32 D 36 H liver CTNNB1 1 c.94_141del48 p.D32_S47del length of cdnaseq = 2346 length of protseq = 781 94 141 48 48 32 1 47 3 gactctggaatccattctggtgccactaccacagctccttctctgagt Total no. of codons in cdna seq = 782 gac agt prev g start g-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2298 ter codon is taa at posn 766 Protein length after deletion = 765 Total no. of codons in del cdnaseq = 766 last codon in array is taa tac (Y) ctg (L) gac (D) agt (S) ggt (G) aaa (K) ggc (G) aat (N) tac (Y) ctg (L) ggt (G) aaa (K) ggc (G) aat (N) wild type sequence in deletion region: gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) wt inframe deln region length = 16 first wt aa affected by inframe deletion is : gac (D) 32 D 47 S liver CTNNB1 1 c.96_107del12 p.D32_H36>D length of cdnaseq = 2346 length of protseq = 781 96 107 12 12 32 3 36 2 ctctggaatcca Total no. of codons in cdna seq = 782 gac cat start a-c end a-t ga- --t gat (D) length of cdnaseq after deletion = 2334 ter codon is taa at posn 778 Protein length after deletion = 777 Total no. of codons in del cdnaseq = 778 last codon in array is taa tac (Y) ctg (L) gac (D) cat (H) tct (S) ggt (G) gcc (A) act (T) tac (Y) ctg (L) gat (D) tct (S) ggt (G) gcc (A) wild type sequence in deletion region: gac (D) tct (S) gga (G) atc (I) cat (H) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : tct (S) 32 D 36 H D S D 1 liver CTNNB1 c.96_107del12 p.D32_H36>D liver CTNNB1 1 c.97_111del15 p.S33_S37del length of cdnaseq = 2346 length of protseq = 781 97 111 15 15 33 1 37 3 tctggaatccattct Total no. of codons in cdna seq = 782 tct tct prev c start c-t post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2331 ter codon is taa at posn 777 Protein length after deletion = 776 Total no. of codons in del cdnaseq = 777 last codon in array is taa ctg (L) gac (D) tct (S) tct (S) ggt (G) gcc (A) act (T) acc (T) ctg (L) gac (D) ggt (G) gcc (A) act (T) acc (T) wild type sequence in deletion region: tct (S) gga (G) atc (I) cat (H) tct (S) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : tct (S) 33 S 37 S pancreas CTNNB1 1 c.133_135delTCT p.S45del length of cdnaseq = 2346 length of protseq = 781 133 135 TCT 3 45 1 45 3 tct Total no. of codons in cdna seq = 782 tct tct prev t start t-t post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa gct (A) cct (P) tct (S) tct (S) ctg (L) agt (S) ggt (G) aaa (K) gct (A) cct (P) ctg (L) agt (S) ggt (G) aaa (K) wild type sequence in deletion region: tct (S) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tct (S) 45 S 45 S - pancreas CTNNB1 1 c.65_103del39 p.S23_I35del length of cdnaseq = 2346 length of protseq = 781 65 103 39 39 22 2 35 1 ttagtcactggcagcaacagtcttacctggactctggaa Total no. of codons in cdna seq = 782 gtt atc start g-t end a-t g-- -tc gtc (V) length of cdnaseq after deletion = 2307 ter codon is taa at posn 769 Protein length after deletion = 768 Total no. of codons in del cdnaseq = 769 last codon in array is taa gcg (A) gct (A) gtt (V) atc (I) cat (H) tct (S) ggt (G) gcc (A) gcg (A) gct (A) gtc (V) cat (H) tct (S) ggt (G) wild type sequence in deletion region: gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) wt inframe deln region length = 14 first wt aa affected by inframe deletion is : agt (S) 23 S 35 I pancreas CTNNB1 1 c.84_95del12 p.Q28_D32>H length of cdnaseq = 2346 length of protseq = 781 84 95 12 12 28 3 32 2 gtcttacctgga Total no. of codons in cdna seq = 782 cag gac start a-g end a-c ca- --c cac (H) length of cdnaseq after deletion = 2334 ter codon is taa at posn 778 Protein length after deletion = 777 Total no. of codons in del cdnaseq = 778 last codon in array is taa cag (Q) caa (Q) cag (Q) gac (D) tct (S) gga (G) atc (I) cat (H) cag (Q) caa (Q) cac (H) tct (S) gga (G) atc (I) wild type sequence in deletion region: cag (Q) tct (S) tac (Y) ctg (L) gac (D) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : cag (Q) 28 Q 32 D H prostate CTNNB1 1 c.133_135delTCT p.S45del length of cdnaseq = 2346 length of protseq = 781 133 135 TCT 3 45 1 45 3 tct Total no. of codons in cdna seq = 782 tct tct prev t start t-t post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa gct (A) cct (P) tct (S) tct (S) ctg (L) agt (S) ggt (G) aaa (K) gct (A) cct (P) ctg (L) agt (S) ggt (G) aaa (K) wild type sequence in deletion region: tct (S) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tct (S) 45 S 45 S - skin CTNNB1 1 c.1_261del261 p.M1_A87del length of cdnaseq = 2346 length of protseq = 781 1 261 261 261 1 1 87 3 atggctactcaagctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgca Total no. of codons in cdna seq = 782 atg gca deletion begins at cdna pos 1 post a end a-a --- --- No joining codon length of cdnaseq after deletion = 2085 ter codon is taa at posn 695 Protein length after deletion = 694 Total no. of codons in del cdnaseq = 695 last codon in array is taa --- ( ) --- ( ) atg (M) gca (A) atg (M) act (T) cga (R) gct (A) --- ( ) --- ( ) atg (M) act (T) cga (R) gct (A) wild type sequence in deletion region: atg (M) gct (A) act (T) caa (Q) gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) wt inframe deln region length = 87 first wt aa affected by inframe deletion is : gct (A) 1 M 87 A A M 1 skin CTNNB1 c.1_261del261 p.M1_A87del skin CTNNB1 1 c.1_519del519 p.M1_V173del length of cdnaseq = 2346 length of protseq = 781 1 519 519 519 1 1 173 3 atggctactcaagctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgattaactatcaagatgatgcagaacttgccacacgtgcaatccctgaactgacaaaactgctaaatgacgaggaccaggtggtggttaataaggctgcagtt Total no. of codons in cdna seq = 782 atg gtt deletion begins at cdna pos 1 post a end t-a --- --- No joining codon length of cdnaseq after deletion = 1827 ter codon is taa at posn 609 Protein length after deletion = 608 Total no. of codons in del cdnaseq = 609 last codon in array is taa --- ( ) --- ( ) atg (M) gtt (V) atg (M) gtc (V) cat (H) cag (Q) --- ( ) --- ( ) atg (M) gtc (V) cat (H) cag (Q) wild type sequence in deletion region: atg (M) gct (A) act (T) caa (Q) gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) tat (Y) caa (Q) gat (D) gat (D) gca (A) gaa (E) ctt (L) gcc (A) aca (T) cgt (R) gca (A) atc (I) cct (P) gaa (E) ctg (L) aca (T) aaa (K) ctg (L) cta (L) aat (N) gac (D) gag (E) gac (D) cag (Q) gtg (V) gtg (V) gtt (V) aat (N) aag (K) gct (A) gca (A) gtt (V) wt inframe deln region length = 173 first wt aa affected by inframe deletion is : gct (A) 1 M 173 V A M 1 skin CTNNB1 c.1_519del519 p.M1_V173del small_intestine CTNNB1 1 c.14_241del228 p.A5_A80del length of cdnaseq = 2346 length of protseq = 781 14 241 228 228 5 2 81 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctg Total no. of codons in cdna seq = 782 gct gat start g-c end g-a g-- -at gat (D) length of cdnaseq after deletion = 2118 ter codon is taa at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 706 last codon in array is taa act (T) caa (Q) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) act (T) caa (Q) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) wt inframe deln region length = 77 first wt aa affected by inframe deletion is : gct (A) 5 A 80 A small_intestine CTNNB1 1 c.49_384del336 p.D17_P128del length of cdnaseq = 2346 length of protseq = 781 49 384 336 336 17 1 128 3 gacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaacca Total no. of codons in cdna seq = 782 gac cca prev a start a-g post t end a-t --- --- No joining codon length of cdnaseq after deletion = 2010 ter codon is taa at posn 670 Protein length after deletion = 669 Total no. of codons in del cdnaseq = 670 last codon in array is taa gaa (E) cca (P) gac (D) cca (P) tca (S) cag (Q) atg (M) ctg (L) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) wild type sequence in deletion region: gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) wt inframe deln region length = 112 first wt aa affected by inframe deletion is : gac (D) 17 D 128 P soft_tissue CTNNB1 1 c.124_144del21 p.T42_G48del length of cdnaseq = 2346 length of protseq = 781 124 144 21 21 42 1 48 3 acagctccttctctgagtggt Total no. of codons in cdna seq = 782 aca ggt prev c start c-a post a end t-a --- --- No joining codon length of cdnaseq after deletion = 2325 ter codon is taa at posn 775 Protein length after deletion = 774 Total no. of codons in del cdnaseq = 775 last codon in array is taa act (T) acc (T) aca (T) ggt (G) aaa (K) ggc (G) aat (N) cct (P) act (T) acc (T) aaa (K) ggc (G) aat (N) cct (P) wild type sequence in deletion region: aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : aca (T) 42 T 48 G stomach CTNNB1 1 c.14_241del228 p.A5_A80del length of cdnaseq = 2346 length of protseq = 781 14 241 228 228 5 2 81 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctg Total no. of codons in cdna seq = 782 gct gat start g-c end g-a g-- -at gat (D) length of cdnaseq after deletion = 2118 ter codon is taa at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 706 last codon in array is taa act (T) caa (Q) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) act (T) caa (Q) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) wt inframe deln region length = 77 first wt aa affected by inframe deletion is : gct (A) 5 A 80 A stomach CTNNB1 1 c.61_240del178 p.A21_A80del length of cdnaseq = 2346 length of protseq = 781 61 240 178 178 21 1 80 3 gctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagct Total no. of codons in cdna seq = 782 gct gct prev g start g-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2166 ter codon is taa at posn 722 Protein length after deletion = 721 Total no. of codons in del cdnaseq = 722 last codon in array is taa aaa (K) gcg (A) gct (A) gct (A) gat (D) att (I) gat (D) gga (G) aaa (K) gcg (A) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) wt inframe deln region length = 60 first wt aa affected by inframe deletion is : gct (A) 21 A 80 A kidney CTNNB1 27 c.133_135delTCT p.S45del length of cdnaseq = 2346 length of protseq = 781 133 135 TCT 3 45 1 45 3 tct Total no. of codons in cdna seq = 782 tct tct prev t start t-t post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa gct (A) cct (P) tct (S) tct (S) ctg (L) agt (S) ggt (G) aaa (K) gct (A) cct (P) ctg (L) agt (S) ggt (G) aaa (K) wild type sequence in deletion region: tct (S) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tct (S) 45 S 45 S - liver CTNNB1 2 c.14_241del228 p.A5_A80del length of cdnaseq = 2346 length of protseq = 781 14 241 228 228 5 2 81 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctg Total no. of codons in cdna seq = 782 gct gat start g-c end g-a g-- -at gat (D) length of cdnaseq after deletion = 2118 ter codon is taa at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 706 last codon in array is taa act (T) caa (Q) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) act (T) caa (Q) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) wt inframe deln region length = 77 first wt aa affected by inframe deletion is : gct (A) 5 A 80 A liver CTNNB1 2 c.14_421del406 p.M5_N141>D length of cdnaseq = 2346 length of protseq = 781 14 421 406 406 5 2 141 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgatta Total no. of codons in cdna seq = 782 gct aac start g-c end a-a g-- -ac gac (D) length of cdnaseq after deletion = 1938 ter codon is taa at posn 646 Protein length after deletion = 645 Total no. of codons in del cdnaseq = 646 last codon in array is taa act (T) caa (Q) gct (A) aac (N) tat (Y) caa (Q) gat (D) gat (D) act (T) caa (Q) gac (D) tat (Y) caa (Q) gat (D) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) wt inframe deln region length = 137 first wt aa affected by inframe deletion is : gct (A) 5 M 141 N D A M 2 liver CTNNB1 c.14_421del406 p.M5_N141>D liver CTNNB1 2 c.14_424del411 p.A5_Y142>D length of cdnaseq = 2346 length of protseq = 781 14 424 411 411 5 2 142 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgattaact Total no. of codons in cdna seq = 782 gct tat start g-c end t-a g-- -at gat (D) length of cdnaseq after deletion = 1935 ter codon is taa at posn 645 Protein length after deletion = 644 Total no. of codons in del cdnaseq = 645 last codon in array is taa act (T) caa (Q) gct (A) tat (Y) caa (Q) gat (D) gat (D) gca (A) act (T) caa (Q) gat (D) caa (Q) gat (D) gat (D) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) tat (Y) wt inframe deln region length = 138 first wt aa affected by inframe deletion is : gct (A) 5 A 142 Y D liver CTNNB1 2 c.64_99del36 p.V22_S33del length of cdnaseq = 2346 length of protseq = 781 64 99 36 36 22 1 33 3 gttagtcactggcagcaacagtcttacctggactct Total no. of codons in cdna seq = 782 gtt tct prev t start t-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2310 ter codon is taa at posn 770 Protein length after deletion = 769 Total no. of codons in del cdnaseq = 770 last codon in array is taa gcg (A) gct (A) gtt (V) tct (S) gga (G) atc (I) cat (H) tct (S) gcg (A) gct (A) gga (G) atc (I) cat (H) tct (S) wild type sequence in deletion region: gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) wt inframe deln region length = 12 first wt aa affected by inframe deletion is : gtt (V) 22 V 33 S liver CTNNB1 2 c.66_416del351 p.V22_L139>V length of cdnaseq = 2346 length of protseq = 781 66 416 351 351 22 3 139 2 tagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaactt Total no. of codons in cdna seq = 782 gtt ttg start t-t end t-g gt- --g gtg (V) length of cdnaseq after deletion = 1995 ter codon is taa at posn 665 Protein length after deletion = 664 Total no. of codons in del cdnaseq = 665 last codon in array is taa gcg (A) gct (A) gtt (V) ttg (L) att (I) aac (N) tat (Y) caa (Q) gcg (A) gct (A) gtg (V) att (I) aac (N) tat (Y) wild type sequence in deletion region: gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) wt inframe deln region length = 118 first wt aa affected by inframe deletion is : agt (S) 22 V 139 L V S V 2 liver CTNNB1 c.66_416del351 p.V22_L139>V liver CTNNB1 2 c.67_99del33 p.S23_S33del length of cdnaseq = 2346 length of protseq = 781 67 99 33 33 23 1 33 3 agtcactggcagcaacagtcttacctggactct Total no. of codons in cdna seq = 782 agt tct prev t start t-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2313 ter codon is taa at posn 771 Protein length after deletion = 770 Total no. of codons in del cdnaseq = 771 last codon in array is taa gct (A) gtt (V) agt (S) tct (S) gga (G) atc (I) cat (H) tct (S) gct (A) gtt (V) gga (G) atc (I) cat (H) tct (S) wild type sequence in deletion region: agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) wt inframe deln region length = 11 first wt aa affected by inframe deletion is : agt (S) 23 S 33 S liver CTNNB1 2 c.7_378del372 p.T3_A126del length of cdnaseq = 2346 length of protseq = 781 7 378 372 372 3 1 126 3 actcaagctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggct Total no. of codons in cdna seq = 782 act gct prev t start t-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 1974 ter codon is taa at posn 658 Protein length after deletion = 657 Total no. of codons in del cdnaseq = 658 last codon in array is taa atg (M) gct (A) act (T) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) gct (A) gaa (E) cca (P) tca (S) cag (Q) wild type sequence in deletion region: act (T) caa (Q) gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) wt inframe deln region length = 124 first wt aa affected by inframe deletion is : act (T) 3 T 126 A liver CTNNB1 2 c.88_99del12 p.Y30_S33del length of cdnaseq = 2346 length of protseq = 781 88 99 12 12 30 1 33 3 tacctggactct Total no. of codons in cdna seq = 782 tac tct prev t start t-t post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2334 ter codon is taa at posn 778 Protein length after deletion = 777 Total no. of codons in del cdnaseq = 778 last codon in array is taa cag (Q) tct (S) tac (Y) tct (S) gga (G) atc (I) cat (H) tct (S) cag (Q) tct (S) gga (G) atc (I) cat (H) tct (S) wild type sequence in deletion region: tac (Y) ctg (L) gac (D) tct (S) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : tac (Y) 30 Y 33 S skin CTNNB1 2 c.133_135delTCT p.S45del length of cdnaseq = 2346 length of protseq = 781 133 135 TCT 3 45 1 45 3 tct Total no. of codons in cdna seq = 782 tct tct prev t start t-t post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa gct (A) cct (P) tct (S) tct (S) ctg (L) agt (S) ggt (G) aaa (K) gct (A) cct (P) ctg (L) agt (S) ggt (G) aaa (K) wild type sequence in deletion region: tct (S) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tct (S) 45 S 45 S - liver CTNNB1 30 c.14_241del228 p.A5_A80del length of cdnaseq = 2346 length of protseq = 781 14 241 228 228 5 2 81 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctg Total no. of codons in cdna seq = 782 gct gat start g-c end g-a g-- -at gat (D) length of cdnaseq after deletion = 2118 ter codon is taa at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 706 last codon in array is taa act (T) caa (Q) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) act (T) caa (Q) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) wt inframe deln region length = 77 first wt aa affected by inframe deletion is : gct (A) 5 A 80 A kidney CTNNB1 3 c.134_136delCTC p.S45del length of cdnaseq = 2346 length of protseq = 781 134 136 CTC 3 45 2 46 1 ctc Total no. of codons in cdna seq = 782 tct ctg start t-c end c-t t-- -tg ttg (L) length of cdnaseq after deletion = 2343 ter codon is taa at posn 781 Protein length after deletion = 780 Total no. of codons in del cdnaseq = 781 last codon in array is taa gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) gct (A) cct (P) ttg (L) agt (S) ggt (G) aaa (K) wild type sequence in deletion region: tct (S) ctg (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : tct (S) 45 S 45 S - liver CTNNB1 3 c.64_114del51 p.V22_G38del length of cdnaseq = 2346 length of protseq = 781 64 114 51 51 22 1 38 3 gttagtcactggcagcaacagtcttacctggactctggaatccattctggt Total no. of codons in cdna seq = 782 gtt ggt prev t start t-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2295 ter codon is taa at posn 765 Protein length after deletion = 764 Total no. of codons in del cdnaseq = 765 last codon in array is taa gcg (A) gct (A) gtt (V) ggt (G) gcc (A) act (T) acc (T) aca (T) gcg (A) gct (A) gcc (A) act (T) acc (T) aca (T) wild type sequence in deletion region: gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) wt inframe deln region length = 17 first wt aa affected by inframe deletion is : gtt (V) 22 V 38 G liver CTNNB1 3 c.73_420del348 p.W25_I140del length of cdnaseq = 2346 length of protseq = 781 73 420 348 348 25 1 140 3 tggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgatt Total no. of codons in cdna seq = 782 tgg att prev c start c-t post a end t-a --- --- No joining codon length of cdnaseq after deletion = 1998 ter codon is taa at posn 666 Protein length after deletion = 665 Total no. of codons in del cdnaseq = 666 last codon in array is taa agt (S) cac (H) tgg (W) att (I) aac (N) tat (Y) caa (Q) gat (D) agt (S) cac (H) aac (N) tat (Y) caa (Q) gat (D) wild type sequence in deletion region: tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) wt inframe deln region length = 116 first wt aa affected by inframe deletion is : tgg (W) 25 W 140 I liver CTNNB1 4 c.74_97del24 p.W25_D32del length of cdnaseq = 2346 length of protseq = 781 74 97 24 24 25 2 33 1 ggcagcaacagtcttacctggact Total no. of codons in cdna seq = 782 tgg tct start t-g end t-c t-- -ct tct (S) length of cdnaseq after deletion = 2322 ter codon is taa at posn 774 Protein length after deletion = 773 Total no. of codons in del cdnaseq = 774 last codon in array is taa agt (S) cac (H) tgg (W) tct (S) gga (G) atc (I) cat (H) tct (S) agt (S) cac (H) tct (S) gga (G) atc (I) cat (H) wild type sequence in deletion region: tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : tgg (W) 25 W 32 D liver CTNNB1 5 c.14_241del228 p.A5_A80>D length of cdnaseq = 2346 length of protseq = 781 14 241 228 228 5 2 81 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctg Total no. of codons in cdna seq = 782 gct gat start g-c end g-a g-- -at gat (D) length of cdnaseq after deletion = 2118 ter codon is taa at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 706 last codon in array is taa act (T) caa (Q) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) act (T) caa (Q) gat (D) att (I) gat (D) gga (G) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) wt inframe deln region length = 77 first wt aa affected by inframe deletion is : gct (A) 5 A 80 A D stomach CTNNB1 5 c.82_402del321 p.Q28_H134del length of cdnaseq = 2346 length of protseq = 781 82 402 321 321 28 1 134 3 cagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacat Total no. of codons in cdna seq = 782 cag cat prev a start a-c post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2025 ter codon is taa at posn 675 Protein length after deletion = 674 Total no. of codons in del cdnaseq = 675 last codon in array is taa cag (Q) caa (Q) cag (Q) cat (H) gca (A) gtt (V) gta (V) aac (N) cag (Q) caa (Q) gca (A) gtt (V) gta (V) aac (N) wild type sequence in deletion region: cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) wt inframe deln region length = 107 first wt aa affected by inframe deletion is : cag (Q) 28 Q 134 H liver CTNNB1 7 c.14_430del417 p.A5_Q143del length of cdnaseq = 2346 length of protseq = 781 14 430 417 417 5 2 144 1 ctgatttgatggagttggacatggccatggaaccagacagaaaagcggctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccactaccacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcccaagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagctgatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccctgagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccactaatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgattaactatcaag Total no. of codons in cdna seq = 782 gct gat start g-c end g-a g-- -at gat (D) length of cdnaseq after deletion = 1929 ter codon is taa at posn 643 Protein length after deletion = 642 Total no. of codons in del cdnaseq = 643 last codon in array is taa act (T) caa (Q) gct (A) gat (D) gat (D) gca (A) gaa (E) ctt (L) act (T) caa (Q) gat (D) gat (D) gca (A) gaa (E) wild type sequence in deletion region: gct (A) gat (D) ttg (L) atg (M) gag (E) ttg (L) gac (D) atg (M) gcc (A) atg (M) gaa (E) cca (P) gac (D) aga (R) aaa (K) gcg (A) gct (A) gtt (V) agt (S) cac (H) tgg (W) cag (Q) caa (Q) cag (Q) tct (S) tac (Y) ctg (L) gac (D) tct (S) gga (G) atc (I) cat (H) tct (S) ggt (G) gcc (A) act (T) acc (T) aca (T) gct (A) cct (P) tct (S) ctg (L) agt (S) ggt (G) aaa (K) ggc (G) aat (N) cct (P) gag (E) gaa (E) gag (E) gat (D) gtg (V) gat (D) acc (T) tcc (S) caa (Q) gtc (V) ctg (L) tat (Y) gag (E) tgg (W) gaa (E) cag (Q) gga (G) ttt (F) tct (S) cag (Q) tcc (S) ttc (F) act (T) caa (Q) gaa (E) caa (Q) gta (V) gct (A) gat (D) att (I) gat (D) gga (G) cag (Q) tat (Y) gca (A) atg (M) act (T) cga (R) gct (A) cag (Q) agg (R) gta (V) cga (R) gct (A) gct (A) atg (M) ttc (F) cct (P) gag (E) aca (T) tta (L) gat (D) gag (E) ggc (G) atg (M) cag (Q) atc (I) cca (P) tct (S) aca (T) cag (Q) ttt (F) gat (D) gct (A) gct (A) cat (H) ccc (P) act (T) aat (N) gtc (V) cag (Q) cgt (R) ttg (L) gct (A) gaa (E) cca (P) tca (S) cag (Q) atg (M) ctg (L) aaa (K) cat (H) gca (A) gtt (V) gta (V) aac (N) ttg (L) att (I) aac (N) tat (Y) caa (Q) gat (D) wt inframe deln region length = 140 first wt aa affected by inframe deletion is : gct (A) 5 A 143 Q breast DDX10 1 c.1781_1855del75 p.E594_E618del length of cdnaseq = 2628 length of protseq = 875 1781 1855 75 75 594 2 619 1 agaaactggcaaaagcaaaaggatctcaagccccatctcttcctaacaccagtgaggcacagaagatcaaggaag Total no. of codons in cdna seq = 876 gag gtt start g-a end g-t g-- -tt gtt (V) length of cdnaseq after deletion = 2553 ter codon is taa at posn 851 Protein length after deletion = 850 Total no. of codons in del cdnaseq = 851 last codon in array is taa atg (M) gaa (E) gag (E) gtt (V) cct (P) aca (T) cag (Q) ttc (F) atg (M) gaa (E) gtt (V) cct (P) aca (T) cag (Q) wild type sequence in deletion region: gag (E) aaa (K) ctg (L) gca (A) aaa (K) gca (A) aaa (K) gga (G) tct (S) caa (Q) gcc (A) cca (P) tct (S) ctt (L) cct (P) aac (N) acc (T) agt (S) gag (E) gca (A) cag (Q) aag (K) atc (I) aag (K) gaa (E) gtt (V) wt inframe deln region length = 26 first wt aa affected by inframe deletion is : gag (E) 594 E 618 E lung EGFR 12 c.2239_2253del15 p.L747_T751del length of cdnaseq = 3633 length of protseq = 1210 2239 2253 15 15 747 1 751 3 ttaagagaagcaaca Total no. of codons in cdna seq = 1211 tta aca prev a start a-t post t end a-t --- --- No joining codon length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga aag (K) gaa (E) tta (L) aca (T) tct (S) ccg (P) aaa (K) gcc (A) aag (K) gaa (E) tct (S) ccg (P) aaa (K) gcc (A) wild type sequence in deletion region: tta (L) aga (R) gaa (E) gca (A) aca (T) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : tta (L) 747 L 751 T lung EGFR 14 c.2237_2251del15 p.E746_T751>A length of cdnaseq = 3633 length of protseq = 1210 2237 2251 15 15 746 2 751 1 aattaagagaagcaa Total no. of codons in cdna seq = 1211 gaa aca start g-a end a-c g-- -ca gca (A) length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga atc (I) aag (K) gaa (E) aca (T) tct (S) ccg (P) aaa (K) gcc (A) atc (I) aag (K) gca (A) tct (S) ccg (P) aaa (K) wild type sequence in deletion region: gaa (E) tta (L) aga (R) gaa (E) gca (A) aca (T) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gaa (E) 746 E 751 T A lung EGFR 14 c.2239_2247del9 p.L747_E749del length of cdnaseq = 3633 length of protseq = 1210 2239 2247 9 9 747 1 749 3 ttaagagaa Total no. of codons in cdna seq = 1211 tta gaa prev a start a-t post g end a-g --- --- No joining codon length of cdnaseq after deletion = 3624 ter codon is tga at posn 1208 Protein length after deletion = 1207 Total no. of codons in del cdnaseq = 1208 last codon in array is tga aag (K) gaa (E) tta (L) gaa (E) gca (A) aca (T) tct (S) ccg (P) aag (K) gaa (E) gca (A) aca (T) tct (S) ccg (P) wild type sequence in deletion region: tta (L) aga (R) gaa (E) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : tta (L) 747 L 749 E central_nervous_system EGFR 1 c.2237_2254del18 p.E746_S752>A length of cdnaseq = 3633 length of protseq = 1210 2237 2254 18 18 746 2 752 1 aattaagagaagcaacat Total no. of codons in cdna seq = 1211 gaa tct start g-a end t-c g-- -ct gct (A) length of cdnaseq after deletion = 3615 ter codon is tga at posn 1205 Protein length after deletion = 1204 Total no. of codons in del cdnaseq = 1205 last codon in array is tga atc (I) aag (K) gaa (E) tct (S) ccg (P) aaa (K) gcc (A) aac (N) atc (I) aag (K) gct (A) ccg (P) aaa (K) gcc (A) wild type sequence in deletion region: gaa (E) tta (L) aga (R) gaa (E) gca (A) aca (T) tct (S) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gaa (E) 746 E 752 S A kidney EGFR 1 c.2237_2254del18 p.E746_S752>A length of cdnaseq = 3633 length of protseq = 1210 2237 2254 18 18 746 2 752 1 aattaagagaagcaacat Total no. of codons in cdna seq = 1211 gaa tct start g-a end t-c g-- -ct gct (A) length of cdnaseq after deletion = 3615 ter codon is tga at posn 1205 Protein length after deletion = 1204 Total no. of codons in del cdnaseq = 1205 last codon in array is tga atc (I) aag (K) gaa (E) tct (S) ccg (P) aaa (K) gcc (A) aac (N) atc (I) aag (K) gct (A) ccg (P) aaa (K) gcc (A) wild type sequence in deletion region: gaa (E) tta (L) aga (R) gaa (E) gca (A) aca (T) tct (S) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gaa (E) 746 E 752 S A lung EGFR 1 c.2234_2236delAGG p.E746del length of cdnaseq = 3633 length of protseq = 1210 2234 2236 AGG 3 745 2 746 1 agg Total no. of codons in cdna seq = 1211 aag gaa start a-a end g-a a-- -aa aaa (K) length of cdnaseq after deletion = 3630 ter codon is tga at posn 1210 Protein length after deletion = 1209 Total no. of codons in del cdnaseq = 1210 last codon in array is tga gct (A) atc (I) aag (K) gaa (E) tta (L) aga (R) gaa (E) gca (A) gct (A) atc (I) aaa (K) tta (L) aga (R) gaa (E) wild type sequence in deletion region: aag (K) gaa (E) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gaa (E) 746 E 746 E - lung EGFR 1 c.2235_2246del12 p.E746_E749del length of cdnaseq = 3633 length of protseq = 1210 2235 2246 12 12 745 3 749 2 ggaattaagaga Total no. of codons in cdna seq = 1211 aag gaa start a-g end a-a aa- --a aaa (K) length of cdnaseq after deletion = 3621 ter codon is tga at posn 1207 Protein length after deletion = 1206 Total no. of codons in del cdnaseq = 1207 last codon in array is tga gct (A) atc (I) aag (K) gaa (E) gca (A) aca (T) tct (S) ccg (P) gct (A) atc (I) aaa (K) gca (A) aca (T) tct (S) wild type sequence in deletion region: aag (K) gaa (E) tta (L) aga (R) gaa (E) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : gaa (E) 746 E 749 E lung EGFR 1 c.2235_2252del18 p.E746_T751del length of cdnaseq = 3633 length of protseq = 1210 2235 2252 18 18 745 3 751 2 ggaattaagagaagcaac Total no. of codons in cdna seq = 1211 aag aca start a-g end c-a aa- --a aaa (K) length of cdnaseq after deletion = 3615 ter codon is tga at posn 1205 Protein length after deletion = 1204 Total no. of codons in del cdnaseq = 1205 last codon in array is tga gct (A) atc (I) aag (K) aca (T) tct (S) ccg (P) aaa (K) gcc (A) gct (A) atc (I) aaa (K) tct (S) ccg (P) aaa (K) wild type sequence in deletion region: aag (K) gaa (E) tta (L) aga (R) gaa (E) gca (A) aca (T) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gaa (E) 746 E 751 T lung EGFR 1 c.2236_2253del18 p.E746_T751del length of cdnaseq = 3633 length of protseq = 1210 2236 2253 18 18 746 1 751 3 gaattaagagaagcaaca Total no. of codons in cdna seq = 1211 gaa aca prev g start g-g post t end a-t --- --- No joining codon length of cdnaseq after deletion = 3615 ter codon is tga at posn 1205 Protein length after deletion = 1204 Total no. of codons in del cdnaseq = 1205 last codon in array is tga atc (I) aag (K) gaa (E) aca (T) tct (S) ccg (P) aaa (K) gcc (A) atc (I) aag (K) tct (S) ccg (P) aaa (K) gcc (A) wild type sequence in deletion region: gaa (E) tta (L) aga (R) gaa (E) gca (A) aca (T) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gaa (E) 746 E 751 T lung EGFR 1 c.2239_2262del24 p.L747_K754del length of cdnaseq = 3633 length of protseq = 1210 2239 2262 24 24 747 1 754 3 ttaagagaagcaacatctccgaaa Total no. of codons in cdna seq = 1211 tta aaa prev a start a-t post g end a-g --- --- No joining codon length of cdnaseq after deletion = 3609 ter codon is tga at posn 1203 Protein length after deletion = 1202 Total no. of codons in del cdnaseq = 1203 last codon in array is tga aag (K) gaa (E) tta (L) aaa (K) gcc (A) aac (N) aag (K) gaa (E) aag (K) gaa (E) gcc (A) aac (N) aag (K) gaa (E) wild type sequence in deletion region: tta (L) aga (R) gaa (E) gca (A) aca (T) tct (S) ccg (P) aaa (K) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : tta (L) 747 L 754 K lung EGFR 1 c.2246_2260del15 p.A750_K754del length of cdnaseq = 3633 length of protseq = 1210 2246 2260 15 15 749 2 754 1 aagcaacatctccga Total no. of codons in cdna seq = 1211 gaa aaa start g-a end a-a g-- -aa gaa (E) length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga tta (L) aga (R) gaa (E) aaa (K) gcc (A) aac (N) aag (K) gaa (E) tta (L) aga (R) gaa (E) gcc (A) aac (N) aag (K) wild type sequence in deletion region: gaa (E) gca (A) aca (T) tct (S) ccg (P) aaa (K) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gca (A) 750 A 754 K lung EGFR 1 c.2247_2273del27 p.A750_E758del length of cdnaseq = 3633 length of protseq = 1210 2247 2273 27 27 749 3 758 2 agcaacatctccgaaagccaacaagga Total no. of codons in cdna seq = 1211 gaa gaa start a-a end a-a ga- --a gaa (E) length of cdnaseq after deletion = 3606 ter codon is tga at posn 1202 Protein length after deletion = 1201 Total no. of codons in del cdnaseq = 1202 last codon in array is tga tta (L) aga (R) gaa (E) gaa (E) atc (I) ctc (L) gat (D) gaa (E) tta (L) aga (R) gaa (E) atc (I) ctc (L) gat (D) wild type sequence in deletion region: gaa (E) gca (A) aca (T) tct (S) ccg (P) aaa (K) gcc (A) aac (N) aag (K) gaa (E) wt inframe deln region length = 10 first wt aa affected by inframe deletion is : gca (A) 750 A 758 E lung EGFR 1 c.2250_2273del24 p.T751_E758del length of cdnaseq = 3633 length of protseq = 1210 2250 2273 24 24 750 3 758 2 aacatctccgaaagccaacaagga Total no. of codons in cdna seq = 1211 gca gaa start c-a end a-a gc- --a gca (A) length of cdnaseq after deletion = 3609 ter codon is tga at posn 1203 Protein length after deletion = 1202 Total no. of codons in del cdnaseq = 1203 last codon in array is tga aga (R) gaa (E) gca (A) gaa (E) atc (I) ctc (L) gat (D) gaa (E) aga (R) gaa (E) gca (A) atc (I) ctc (L) gat (D) wild type sequence in deletion region: gca (A) aca (T) tct (S) ccg (P) aaa (K) gcc (A) aac (N) aag (K) gaa (E) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : aca (T) 751 T 758 E lung EGFR 1 c.2252_2275del24 p.T751_I759>S length of cdnaseq = 3633 length of protseq = 1210 2252 2275 24 24 751 2 759 1 catctccgaaagccaacaaggaaa Total no. of codons in cdna seq = 1211 aca atc start a-c end a-t a-- -tc atc (I) length of cdnaseq after deletion = 3609 ter codon is tga at posn 1203 Protein length after deletion = 1202 Total no. of codons in del cdnaseq = 1203 last codon in array is tga gaa (E) gca (A) aca (T) atc (I) ctc (L) gat (D) gaa (E) gcc (A) gaa (E) gca (A) atc (I) ctc (L) gat (D) gaa (E) wild type sequence in deletion region: aca (T) tct (S) ccg (P) aaa (K) gcc (A) aac (N) aag (K) gaa (E) atc (I) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : aca (T) 751 T 759 I S lung EGFR 1 c.2257_2277del21 p.P753_I759del length of cdnaseq = 3633 length of protseq = 1210 2257 2277 21 21 753 1 759 3 ccgaaagccaacaaggaaatc Total no. of codons in cdna seq = 1211 ccg atc prev t start t-c post c end c-c --- --- No joining codon length of cdnaseq after deletion = 3612 ter codon is tga at posn 1204 Protein length after deletion = 1203 Total no. of codons in del cdnaseq = 1204 last codon in array is tga aca (T) tct (S) ccg (P) atc (I) ctc (L) gat (D) gaa (E) gcc (A) aca (T) tct (S) ctc (L) gat (D) gaa (E) gcc (A) wild type sequence in deletion region: ccg (P) aaa (K) gcc (A) aac (N) aag (K) gaa (E) atc (I) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : ccg (P) 753 P 759 I lung EGFR 1 c.2576_2647del72 p.A859_L883>V length of cdnaseq = 3633 length of protseq = 1210 2576 2647 72 72 859 2 883 1 ccaaactgctgggtgcggaagagaaagaataccatgcagaaggaggcaaagtgcctatcaagtggatggcat Total no. of codons in cdna seq = 1211 gcc ttg start g-c end t-t g-- -tg gtg (V) length of cdnaseq after deletion = 3561 ter codon is tga at posn 1187 Protein length after deletion = 1186 Total no. of codons in del cdnaseq = 1187 last codon in array is tga ggg (G) ctg (L) gcc (A) ttg (L) gaa (E) tca (S) att (I) tta (L) ggg (G) ctg (L) gtg (V) gaa (E) tca (S) att (I) wild type sequence in deletion region: gcc (A) aaa (K) ctg (L) ctg (L) ggt (G) gcg (A) gaa (E) gag (E) aaa (K) gaa (E) tac (Y) cat (H) gca (A) gaa (E) gga (G) ggc (G) aaa (K) gtg (V) cct (P) atc (I) aag (K) tgg (W) atg (M) gca (A) ttg (L) wt inframe deln region length = 25 first wt aa affected by inframe deletion is : gcc (A) 859 A 883 L V prostate EGFR 1 c.2240_2257del18 p.L747_P753>S length of cdnaseq = 3633 length of protseq = 1210 2240 2257 18 18 747 2 753 1 taagagaagcaacatctc Total no. of codons in cdna seq = 1211 tta ccg start t-t end c-c t-- -cg tcg (S) length of cdnaseq after deletion = 3615 ter codon is tga at posn 1205 Protein length after deletion = 1204 Total no. of codons in del cdnaseq = 1205 last codon in array is tga aag (K) gaa (E) tta (L) ccg (P) aaa (K) gcc (A) aac (N) aag (K) aag (K) gaa (E) tcg (S) aaa (K) gcc (A) aac (N) wild type sequence in deletion region: tta (L) aga (R) gaa (E) gca (A) aca (T) tct (S) ccg (P) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : tta (L) 747 L 753 P S upper_aerodigestive_tract EGFR 1 c.2235_2249del15 p.E746_A750del length of cdnaseq = 3633 length of protseq = 1210 2235 2249 15 15 745 3 750 2 ggaattaagagaagc Total no. of codons in cdna seq = 1211 aag gca start a-g end c-a aa- --a aaa (K) length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga gct (A) atc (I) aag (K) gca (A) aca (T) tct (S) ccg (P) aaa (K) gct (A) atc (I) aaa (K) aca (T) tct (S) ccg (P) wild type sequence in deletion region: aag (K) gaa (E) tta (L) aga (R) gaa (E) gca (A) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gaa (E) 746 E 750 A upper_aerodigestive_tract EGFR 1 c.2236_2250del15 p.E746_A750del length of cdnaseq = 3633 length of protseq = 1210 2236 2250 15 15 746 1 750 3 gaattaagagaagca Total no. of codons in cdna seq = 1211 gaa gca prev g start g-g post a end a-a --- --- No joining codon length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga atc (I) aag (K) gaa (E) gca (A) aca (T) tct (S) ccg (P) aaa (K) atc (I) aag (K) aca (T) tct (S) ccg (P) aaa (K) wild type sequence in deletion region: gaa (E) tta (L) aga (R) gaa (E) gca (A) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : gaa (E) 746 E 750 A upper_aerodigestive_tract EGFR 1 c.2237_2251del15 p.E746_T751>A length of cdnaseq = 3633 length of protseq = 1210 2237 2251 15 15 746 2 751 1 aattaagagaagcaa Total no. of codons in cdna seq = 1211 gaa aca start g-a end a-c g-- -ca gca (A) length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga atc (I) aag (K) gaa (E) aca (T) tct (S) ccg (P) aaa (K) gcc (A) atc (I) aag (K) gca (A) tct (S) ccg (P) aaa (K) wild type sequence in deletion region: gaa (E) tta (L) aga (R) gaa (E) gca (A) aca (T) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gaa (E) 746 E 751 T A upper_aerodigestive_tract EGFR 1 c.2239_2247del9 p.L747_E749del length of cdnaseq = 3633 length of protseq = 1210 2239 2247 9 9 747 1 749 3 ttaagagaa Total no. of codons in cdna seq = 1211 tta gaa prev a start a-t post g end a-g --- --- No joining codon length of cdnaseq after deletion = 3624 ter codon is tga at posn 1208 Protein length after deletion = 1207 Total no. of codons in del cdnaseq = 1208 last codon in array is tga aag (K) gaa (E) tta (L) gaa (E) gca (A) aca (T) tct (S) ccg (P) aag (K) gaa (E) gca (A) aca (T) tct (S) ccg (P) wild type sequence in deletion region: tta (L) aga (R) gaa (E) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : tta (L) 747 L 749 E lung EGFR 20 c.2239_2256del18 p.L747_S752del length of cdnaseq = 3633 length of protseq = 1210 2239 2256 18 18 747 1 752 3 ttaagagaagcaacatct Total no. of codons in cdna seq = 1211 tta tct prev a start a-t post c end t-c --- --- No joining codon length of cdnaseq after deletion = 3615 ter codon is tga at posn 1205 Protein length after deletion = 1204 Total no. of codons in del cdnaseq = 1205 last codon in array is tga aag (K) gaa (E) tta (L) tct (S) ccg (P) aaa (K) gcc (A) aac (N) aag (K) gaa (E) ccg (P) aaa (K) gcc (A) aac (N) wild type sequence in deletion region: tta (L) aga (R) gaa (E) gca (A) aca (T) tct (S) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : tta (L) 747 L 752 S lung EGFR 229 c.2236_2250del15 p.E746_A750del length of cdnaseq = 3633 length of protseq = 1210 2236 2250 15 15 746 1 750 3 gaattaagagaagca Total no. of codons in cdna seq = 1211 gaa gca prev g start g-g post a end a-a --- --- No joining codon length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga atc (I) aag (K) gaa (E) gca (A) aca (T) tct (S) ccg (P) aaa (K) atc (I) aag (K) aca (T) tct (S) ccg (P) aaa (K) wild type sequence in deletion region: gaa (E) tta (L) aga (R) gaa (E) gca (A) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : gaa (E) 746 E 750 A lung EGFR 2 c.2237_2254del18 p.E746_S752>A length of cdnaseq = 3633 length of protseq = 1210 2237 2254 18 18 746 2 752 1 aattaagagaagcaacat Total no. of codons in cdna seq = 1211 gaa tct start g-a end t-c g-- -ct gct (A) length of cdnaseq after deletion = 3615 ter codon is tga at posn 1205 Protein length after deletion = 1204 Total no. of codons in del cdnaseq = 1205 last codon in array is tga atc (I) aag (K) gaa (E) tct (S) ccg (P) aaa (K) gcc (A) aac (N) atc (I) aag (K) gct (A) ccg (P) aaa (K) gcc (A) wild type sequence in deletion region: gaa (E) tta (L) aga (R) gaa (E) gca (A) aca (T) tct (S) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gaa (E) 746 E 752 S A thyroid EGFR 2 c.2236_2250del15 p.E746_A750del length of cdnaseq = 3633 length of protseq = 1210 2236 2250 15 15 746 1 750 3 gaattaagagaagca Total no. of codons in cdna seq = 1211 gaa gca prev g start g-g post a end a-a --- --- No joining codon length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga atc (I) aag (K) gaa (E) gca (A) aca (T) tct (S) ccg (P) aaa (K) atc (I) aag (K) aca (T) tct (S) ccg (P) aaa (K) wild type sequence in deletion region: gaa (E) tta (L) aga (R) gaa (E) gca (A) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : gaa (E) 746 E 750 A lung EGFR 33 c.2240_2254del15 p.L747_T751del length of cdnaseq = 3633 length of protseq = 1210 2240 2254 15 15 747 2 752 1 taagagaagcaacat Total no. of codons in cdna seq = 1211 tta tct start t-t end t-c t-- -ct tct (S) length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga aag (K) gaa (E) tta (L) tct (S) ccg (P) aaa (K) gcc (A) aac (N) aag (K) gaa (E) tct (S) ccg (P) aaa (K) gcc (A) wild type sequence in deletion region: tta (L) aga (R) gaa (E) gca (A) aca (T) tct (S) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : tta (L) 747 L 751 T lung EGFR 3 c.2238_2252del15 p.L747_T751del length of cdnaseq = 3633 length of protseq = 1210 2238 2252 15 15 746 3 751 2 attaagagaagcaac Total no. of codons in cdna seq = 1211 gaa aca start a-a end c-a ga- --a gaa (E) length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga atc (I) aag (K) gaa (E) aca (T) tct (S) ccg (P) aaa (K) gcc (A) atc (I) aag (K) gaa (E) tct (S) ccg (P) aaa (K) wild type sequence in deletion region: gaa (E) tta (L) aga (R) gaa (E) gca (A) aca (T) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : tta (L) 747 L 751 T lung EGFR 433 c.2235_2249del15 p.E746_A750del length of cdnaseq = 3633 length of protseq = 1210 2235 2249 15 15 745 3 750 2 ggaattaagagaagc Total no. of codons in cdna seq = 1211 aag gca start a-g end c-a aa- --a aaa (K) length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga gct (A) atc (I) aag (K) gca (A) aca (T) tct (S) ccg (P) aaa (K) gct (A) atc (I) aaa (K) aca (T) tct (S) ccg (P) wild type sequence in deletion region: aag (K) gaa (E) tta (L) aga (R) gaa (E) gca (A) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gaa (E) 746 E 750 A lung EGFR 4 c.2238_2255del18 p.E746_S752>D length of cdnaseq = 3633 length of protseq = 1210 2238 2255 18 18 746 3 752 2 attaagagaagcaacatc Total no. of codons in cdna seq = 1211 gaa tct start a-a end c-t ga- --t gat (D) length of cdnaseq after deletion = 3615 ter codon is tga at posn 1205 Protein length after deletion = 1204 Total no. of codons in del cdnaseq = 1205 last codon in array is tga atc (I) aag (K) gaa (E) tct (S) ccg (P) aaa (K) gcc (A) aac (N) atc (I) aag (K) gat (D) ccg (P) aaa (K) gcc (A) wild type sequence in deletion region: gaa (E) tta (L) aga (R) gaa (E) gca (A) aca (T) tct (S) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gaa (E) 746 E 752 S D lung EGFR 4 c.2253_2276del24 p.S752_I759del length of cdnaseq = 3633 length of protseq = 1210 2253 2276 24 24 751 3 759 2 atctccgaaagccaacaaggaaat Total no. of codons in cdna seq = 1211 aca atc start c-a end t-c ac- --c acc (T) length of cdnaseq after deletion = 3609 ter codon is tga at posn 1203 Protein length after deletion = 1202 Total no. of codons in del cdnaseq = 1203 last codon in array is tga gaa (E) gca (A) aca (T) atc (I) ctc (L) gat (D) gaa (E) gcc (A) gaa (E) gca (A) acc (T) ctc (L) gat (D) gaa (E) wild type sequence in deletion region: aca (T) tct (S) ccg (P) aaa (K) gcc (A) aac (N) aag (K) gaa (E) atc (I) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : tct (S) 752 S 759 I salivary_gland EGFR 4 c.2235_2249del15 p.E746_A750del length of cdnaseq = 3633 length of protseq = 1210 2235 2249 15 15 745 3 750 2 ggaattaagagaagc Total no. of codons in cdna seq = 1211 aag gca start a-g end c-a aa- --a aaa (K) length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga gct (A) atc (I) aag (K) gca (A) aca (T) tct (S) ccg (P) aaa (K) gct (A) atc (I) aaa (K) aca (T) tct (S) ccg (P) wild type sequence in deletion region: aag (K) gaa (E) tta (L) aga (R) gaa (E) gca (A) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gaa (E) 746 E 750 A lung EGFR 5 c.2254_2277del24 p.S752_I759del length of cdnaseq = 3633 length of protseq = 1210 2254 2277 24 24 752 1 759 3 tctccgaaagccaacaaggaaatc Total no. of codons in cdna seq = 1211 tct atc prev a start a-t post c end c-c --- --- No joining codon length of cdnaseq after deletion = 3609 ter codon is tga at posn 1203 Protein length after deletion = 1202 Total no. of codons in del cdnaseq = 1203 last codon in array is tga gca (A) aca (T) tct (S) atc (I) ctc (L) gat (D) gaa (E) gcc (A) gca (A) aca (T) ctc (L) gat (D) gaa (E) gcc (A) wild type sequence in deletion region: tct (S) ccg (P) aaa (K) gcc (A) aac (N) aag (K) gaa (E) atc (I) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : tct (S) 752 S 759 I lung EGFR 5 c.89_889del801 p.V30_R297>G length of cdnaseq = 3633 length of protseq = 1210 89 889 801 801 30 2 297 1 tttgccaaggcacgagtaacaagctcacgcagttgggcacttttgaagatcattttctcagcctccagaggatgttcaataactgtgaggtggtccttgggaatttggaaattacctatgtgcagaggaattatgatctttccttcttaaagaccatccaggaggtggctggttatgtcctcattgccctcaacacagtggagcgaattcctttggaaaacctgcagatcatcagaggaaatatgtactacgaaaattcctatgccttagcagtcttatctaactatgatgcaaataaaaccggactgaaggagctgcccatgagaaatttacaggaaatcctgcatggcgccgtgcggttcagcaacaaccctgccctgtgcaacgtggagagcatccagtggcgggacatagtcagcagtgactttctcagcaacatgtcgatggacttccagaaccacctgggcagctgccaaaagtgtgatccaagctgtcccaatgggagctgctggggtgcaggagaggagaactgccagaaactgaccaaaatcatctgtgcccagcagtgctccgggcgctgccgtggcaagtcccccagtgactgctgccacaaccagtgtgctgcaggctgcacaggcccccgggagagcgactgcctggtctgccgcaaattccgagacgaagccacgtgcaaggacacctgccccccactcatgctctacaaccccaccacgtaccagatggatgtgaaccccgagggcaaatacagctttggtgccacctgcgtgaagaagtgtcccc Total no. of codons in cdna seq = 1211 gtt cgt start g-t end c-g g-- -gt ggt (G) length of cdnaseq after deletion = 2832 ter codon is tga at posn 944 Protein length after deletion = 943 Total no. of codons in del cdnaseq = 944 last codon in array is tga aag (K) aaa (K) gtt (V) cgt (R) aat (N) tat (Y) gtg (V) gtg (V) aag (K) aaa (K) ggt (G) aat (N) tat (Y) gtg (V) wild type sequence in deletion region: gtt (V) tgc (C) caa (Q) ggc (G) acg (T) agt (S) aac (N) aag (K) ctc (L) acg (T) cag (Q) ttg (L) ggc (G) act (T) ttt (F) gaa (E) gat (D) cat (H) ttt (F) ctc (L) agc (S) ctc (L) cag (Q) agg (R) atg (M) ttc (F) aat (N) aac (N) tgt (C) gag (E) gtg (V) gtc (V) ctt (L) ggg (G) aat (N) ttg (L) gaa (E) att (I) acc (T) tat (Y) gtg (V) cag (Q) agg (R) aat (N) tat (Y) gat (D) ctt (L) tcc (S) ttc (F) tta (L) aag (K) acc (T) atc (I) cag (Q) gag (E) gtg (V) gct (A) ggt (G) tat (Y) gtc (V) ctc (L) att (I) gcc (A) ctc (L) aac (N) aca (T) gtg (V) gag (E) cga (R) att (I) cct (P) ttg (L) gaa (E) aac (N) ctg (L) cag (Q) atc (I) atc (I) aga (R) gga (G) aat (N) atg (M) tac (Y) tac (Y) gaa (E) aat (N) tcc (S) tat (Y) gcc (A) tta (L) gca (A) gtc (V) tta (L) tct (S) aac (N) tat (Y) gat (D) gca (A) aat (N) aaa (K) acc (T) gga (G) ctg (L) aag (K) gag (E) ctg (L) ccc (P) atg (M) aga (R) aat (N) tta (L) cag (Q) gaa (E) atc (I) ctg (L) cat (H) ggc (G) gcc (A) gtg (V) cgg (R) ttc (F) agc (S) aac (N) aac (N) cct (P) gcc (A) ctg (L) tgc (C) aac (N) gtg (V) gag (E) agc (S) atc (I) cag (Q) tgg (W) cgg (R) gac (D) ata (I) gtc (V) agc (S) agt (S) gac (D) ttt (F) ctc (L) agc (S) aac (N) atg (M) tcg (S) atg (M) gac (D) ttc (F) cag (Q) aac (N) cac (H) ctg (L) ggc (G) agc (S) tgc (C) caa (Q) aag (K) tgt (C) gat (D) cca (P) agc (S) tgt (C) ccc (P) aat (N) ggg (G) agc (S) tgc (C) tgg (W) ggt (G) gca (A) gga (G) gag (E) gag (E) aac (N) tgc (C) cag (Q) aaa (K) ctg (L) acc (T) aaa (K) atc (I) atc (I) tgt (C) gcc (A) cag (Q) cag (Q) tgc (C) tcc (S) ggg (G) cgc (R) tgc (C) cgt (R) ggc (G) aag (K) tcc (S) ccc (P) agt (S) gac (D) tgc (C) tgc (C) cac (H) aac (N) cag (Q) tgt (C) gct (A) gca (A) ggc (G) tgc (C) aca (T) ggc (G) ccc (P) cgg (R) gag (E) agc (S) gac (D) tgc (C) ctg (L) gtc (V) tgc (C) cgc (R) aaa (K) ttc (F) cga (R) gac (D) gaa (E) gcc (A) acg (T) tgc (C) aag (K) gac (D) acc (T) tgc (C) ccc (P) cca (P) ctc (L) atg (M) ctc (L) tac (Y) aac (N) ccc (P) acc (T) acg (T) tac (Y) cag (Q) atg (M) gat (D) gtg (V) aac (N) ccc (P) gag (E) ggc (G) aaa (K) tac (Y) agc (S) ttt (F) ggt (G) gcc (A) acc (T) tgc (C) gtg (V) aag (K) aag (K) tgt (C) ccc (P) cgt (R) wt inframe deln region length = 268 first wt aa affected by inframe deletion is : gtt (V) 30 V 297 R G thyroid EGFR 5 c.2235_2249del15 p.E746_A750del length of cdnaseq = 3633 length of protseq = 1210 2235 2249 15 15 745 3 750 2 ggaattaagagaagc Total no. of codons in cdna seq = 1211 aag gca start a-g end c-a aa- --a aaa (K) length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga gct (A) atc (I) aag (K) gca (A) aca (T) tct (S) ccg (P) aaa (K) gct (A) atc (I) aaa (K) aca (T) tct (S) ccg (P) wild type sequence in deletion region: aag (K) gaa (E) tta (L) aga (R) gaa (E) gca (A) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gaa (E) 746 E 750 A lung EGFR 6 c.2233_2247del15 p.K745_E749del length of cdnaseq = 3633 length of protseq = 1210 2233 2247 15 15 745 1 749 3 aaggaattaagagaa Total no. of codons in cdna seq = 1211 aag gaa prev c start c-a post g end a-g --- --- No joining codon length of cdnaseq after deletion = 3618 ter codon is tga at posn 1206 Protein length after deletion = 1205 Total no. of codons in del cdnaseq = 1206 last codon in array is tga gct (A) atc (I) aag (K) gaa (E) gca (A) aca (T) tct (S) ccg (P) gct (A) atc (I) gca (A) aca (T) tct (S) ccg (P) wild type sequence in deletion region: aag (K) gaa (E) tta (L) aga (R) gaa (E) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : aag (K) 745 K 749 E lung EGFR 6 c.2240_2251del12 p.L747_T751>S length of cdnaseq = 3633 length of protseq = 1210 2240 2251 12 12 747 2 751 1 taagagaagcaa Total no. of codons in cdna seq = 1211 tta aca start t-t end a-c t-- -ca tca (S) length of cdnaseq after deletion = 3621 ter codon is tga at posn 1207 Protein length after deletion = 1206 Total no. of codons in del cdnaseq = 1207 last codon in array is tga aag (K) gaa (E) tta (L) aca (T) tct (S) ccg (P) aaa (K) gcc (A) aag (K) gaa (E) tca (S) tct (S) ccg (P) aaa (K) wild type sequence in deletion region: tta (L) aga (R) gaa (E) gca (A) aca (T) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : tta (L) 747 L 751 T S lung EGFR 79 c.2240_2257del18 p.L747_P753>S length of cdnaseq = 3633 length of protseq = 1210 2240 2257 18 18 747 2 753 1 taagagaagcaacatctc Total no. of codons in cdna seq = 1211 tta ccg start t-t end c-c t-- -cg tcg (S) length of cdnaseq after deletion = 3615 ter codon is tga at posn 1205 Protein length after deletion = 1204 Total no. of codons in del cdnaseq = 1205 last codon in array is tga aag (K) gaa (E) tta (L) ccg (P) aaa (K) gcc (A) aac (N) aag (K) aag (K) gaa (E) tcg (S) aaa (K) gcc (A) aac (N) wild type sequence in deletion region: tta (L) aga (R) gaa (E) gca (A) aca (T) tct (S) ccg (P) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : tta (L) 747 L 753 P S kidney FAM123B 40 c.1_2415del2415 p.M1_*805del length of cdnaseq = 2415 length of protseq = 804 1 2415 2415 2415 1 1 805 3 atggagacccaaaaggatgaagctgctcaggccaagggagctgcagcctctgggagtacccgtgaacaaacagcagaaaaaggagccaagaacaaggcagctgaggcgacagaaggaccaacctcagagccatcctcatccggcccaggtaggctgaagaaaactgccatgaaactctttggtggcaagaagggtatctgtactctgcctagtttctttggagggggacggagcaaaggttctgggaaaggcagctccaagaaaggtctcagcaagagcaagacccacgatggcctgagtgaagcagcccatggccctgaagatgttgtcagtgaaggaactggcttctccctgcctttgcctgagttaccctgccaatttcccagctctcagagtgcccatggggctttggagacaggctccagatgtaagacatctgtggctggagccacagagaaagctgtggctgagaagtttccctctatgcccaagccaaagaaaggcctaaaaggcttttttagcagtatccgccgtcaccggaagagcaaggtcactggggctgagcaaagtgagccaggggccaaggggcctgagagggtcagagccaggcctcatgagcacgtgagctcagcccctcaggtgccctgctttgaggagaccttccaagcccctagaaaggaaaatgctaacccccaagatgcccctgggccaaaagtttctccaacaccagaaccttctccaccagctactgagaaaatggcctgtaaagatccagaaaaacccatggaggcctgtgcctcagcacatgtgcaacccaagcctgcccctgaagccagtagcctagaggagccccatagcccagaaacaggggagaaggtagtagcaggagaggtaaacccacccaatggccctgtgggggacccactgagcctcttgtttggggatgtgacatccctgaaaagctttgattcattgacaggttgtggtgacataatagcagaacaggacatggacagtatgacagacagcatggcctctgggggccagagagcaaaccgagatgggaccaagcgaagttcctgcctggtgacctaccaaggaggtggggaggagatggccttgccagatgatgatgacgaggaggaagaagaggaagaagaggtggaattagaggaggaagaagaggaggttaaggaggaggaagaagatgatgacttagaatatctgtgggaaactgcccaaatgtatccacggcccaatatgaacctgggctaccatcccaccacatccccaggccaccacggctacatgctccttgacccagttaggtcttatcctggcctagcccctggggaacttttgactcctcagagtgaccagcaagaatccgcccccaatagtgatgaaggttattatgactccaccacacctggatttgaggatgattcaggtgaggccctggggcttgtccgcagggattgtctaccccgagacagctacagtggagatgccctatatgagttctatgagccagatgacagccttgagaactctccacctggagatgactgcctttatgacctccatggtcgaagctctgagatgtttgaccccttcttaaactttgagccctttttgtcctcccggccacctggggcaatggagacagaggaagaacggctagtgaccatccagaaacagttgttgtattgggagcttcggcgggagcagcttgaggcccaggaggcacgtgcccgagaagctcatgccagggaggcccacgccagggaggcctatactcgagaggcttatggcagggaagcctatgccagggaggcccacacttgggaagctcatggcagggaggccagaacccgagaagcccaggcccgagaggttcgttgtagagagactcaagtccgagagacccaggcccggcaggagaagcccgtcttagagtatcagatgaggcccttaggcccatcagtgatgggcctggcagcaggggtatcagggacctctcagatttcccaccggggaattacctcagctttccccaccactgcaagcagcgagccagactggagggacttccgtcctctggagaagcgttatgaaggaacctgctccaagaaagatcaaagtacctgcctgatgcagctcttccagagtgatgccatgtttgagccagacatgcaagaagcaaattttggaggatctcccaggagggcctaccctacttattcaccccctgaagatccagaggaagaggaggttgagaaggaagggaatgccactgtgagtttctcacaggccctggtagagttcaccagcaatgggaacctcttttccagcagaagatgcccaggtactgaagacaaacgccaagtgactcaggcgtgtgggacctggtag Total no. of codons in cdna seq = 805 atg tag deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tag (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) acc (T) caa (Q) aag (K) gat (D) gaa (E) gct (A) gct (A) cag (Q) gcc (A) aag (K) gga (G) gct (A) gca (A) gcc (A) tct (S) ggg (G) agt (S) acc (T) cgt (R) gaa (E) caa (Q) aca (T) gca (A) gaa (E) aaa (K) gga (G) gcc (A) aag (K) aac (N) aag (K) gca (A) gct (A) gag (E) gcg (A) aca (T) gaa (E) gga (G) cca (P) acc (T) tca (S) gag (E) cca (P) tcc (S) tca (S) tcc (S) ggc (G) cca (P) ggt (G) agg (R) ctg (L) aag (K) aaa (K) act (T) gcc (A) atg (M) aaa (K) ctc (L) ttt (F) ggt (G) ggc (G) aag (K) aag (K) ggt (G) atc (I) tgt (C) act (T) ctg (L) cct (P) agt (S) ttc (F) ttt (F) gga (G) ggg (G) gga (G) cgg (R) agc (S) aaa (K) ggt (G) tct (S) ggg (G) aaa (K) ggc (G) agc (S) tcc (S) aag (K) aaa (K) ggt (G) ctc (L) agc (S) aag (K) agc (S) aag (K) acc (T) cac (H) gat (D) ggc (G) ctg (L) agt (S) gaa (E) gca (A) gcc (A) cat (H) ggc (G) cct (P) gaa (E) gat (D) gtt (V) gtc (V) agt (S) gaa (E) gga (G) act (T) ggc (G) ttc (F) tcc (S) ctg (L) cct (P) ttg (L) cct (P) gag (E) tta (L) ccc (P) tgc (C) caa (Q) ttt (F) ccc (P) agc (S) tct (S) cag (Q) agt (S) gcc (A) cat (H) ggg (G) gct (A) ttg (L) gag (E) aca (T) ggc (G) tcc (S) aga (R) tgt (C) aag (K) aca (T) tct (S) gtg (V) gct (A) gga (G) gcc (A) aca (T) gag (E) aaa (K) gct (A) gtg (V) gct (A) gag (E) aag (K) ttt (F) ccc (P) tct (S) atg (M) ccc (P) aag (K) cca (P) aag (K) aaa (K) ggc (G) cta (L) aaa (K) ggc (G) ttt (F) ttt (F) agc (S) agt (S) atc (I) cgc (R) cgt (R) cac (H) cgg (R) aag (K) agc (S) aag (K) gtc (V) act (T) ggg (G) gct (A) gag (E) caa (Q) agt (S) gag (E) cca (P) ggg (G) gcc (A) aag (K) ggg (G) cct (P) gag (E) agg (R) gtc (V) aga (R) gcc (A) agg (R) cct (P) cat (H) gag (E) cac (H) gtg (V) agc (S) tca (S) gcc (A) cct (P) cag (Q) gtg (V) ccc (P) tgc (C) ttt (F) gag (E) gag (E) acc (T) ttc (F) caa (Q) gcc (A) cct (P) aga (R) aag (K) gaa (E) aat (N) gct (A) aac (N) ccc (P) caa (Q) gat (D) gcc (A) cct (P) ggg (G) cca (P) aaa (K) gtt (V) tct (S) cca (P) aca (T) cca (P) gaa (E) cct (P) tct (S) cca (P) cca (P) gct (A) act (T) gag (E) aaa (K) atg (M) gcc (A) tgt (C) aaa (K) gat (D) cca (P) gaa (E) aaa (K) ccc (P) atg (M) gag (E) gcc (A) tgt (C) gcc (A) tca (S) gca (A) cat (H) gtg (V) caa (Q) ccc (P) aag (K) cct (P) gcc (A) cct (P) gaa (E) gcc (A) agt (S) agc (S) cta (L) gag (E) gag (E) ccc (P) cat (H) agc (S) cca (P) gaa (E) aca (T) ggg (G) gag (E) aag (K) gta (V) gta (V) gca (A) gga (G) gag (E) gta (V) aac (N) cca (P) ccc (P) aat (N) ggc (G) cct (P) gtg (V) ggg (G) gac (D) cca (P) ctg (L) agc (S) ctc (L) ttg (L) ttt (F) ggg (G) gat (D) gtg (V) aca (T) tcc (S) ctg (L) aaa (K) agc (S) ttt (F) gat (D) tca (S) ttg (L) aca (T) ggt (G) tgt (C) ggt (G) gac (D) ata (I) ata (I) gca (A) gaa (E) cag (Q) gac (D) atg (M) gac (D) agt (S) atg (M) aca (T) gac (D) agc (S) atg (M) gcc (A) tct (S) ggg (G) ggc (G) cag (Q) aga (R) gca (A) aac (N) cga (R) gat (D) ggg (G) acc (T) aag (K) cga (R) agt (S) tcc (S) tgc (C) ctg (L) gtg (V) acc (T) tac (Y) caa (Q) gga (G) ggt (G) ggg (G) gag (E) gag (E) atg (M) gcc (A) ttg (L) cca (P) gat (D) gat (D) gat (D) gac (D) gag (E) gag (E) gaa (E) gaa (E) gag (E) gaa (E) gaa (E) gag (E) gtg (V) gaa (E) tta (L) gag (E) gag (E) gaa (E) gaa (E) gag (E) gag (E) gtt (V) aag (K) gag (E) gag (E) gaa (E) gaa (E) gat (D) gat (D) gac (D) tta (L) gaa (E) tat (Y) ctg (L) tgg (W) gaa (E) act (T) gcc (A) caa (Q) atg (M) tat (Y) cca (P) cgg (R) ccc (P) aat (N) atg (M) aac (N) ctg (L) ggc (G) tac (Y) cat (H) ccc (P) acc (T) aca (T) tcc (S) cca (P) ggc (G) cac (H) cac (H) ggc (G) tac (Y) atg (M) ctc (L) ctt (L) gac (D) cca (P) gtt (V) agg (R) tct (S) tat (Y) cct (P) ggc (G) cta (L) gcc (A) cct (P) ggg (G) gaa (E) ctt (L) ttg (L) act (T) cct (P) cag (Q) agt (S) gac (D) cag (Q) caa (Q) gaa (E) tcc (S) gcc (A) ccc (P) aat (N) agt (S) gat (D) gaa (E) ggt (G) tat (Y) tat (Y) gac (D) tcc (S) acc (T) aca (T) cct (P) gga (G) ttt (F) gag (E) gat (D) gat (D) tca (S) ggt (G) gag (E) gcc (A) ctg (L) ggg (G) ctt (L) gtc (V) cgc (R) agg (R) gat (D) tgt (C) cta (L) ccc (P) cga (R) gac (D) agc (S) tac (Y) agt (S) gga (G) gat (D) gcc (A) cta (L) tat (Y) gag (E) ttc (F) tat (Y) gag (E) cca (P) gat (D) gac (D) agc (S) ctt (L) gag (E) aac (N) tct (S) cca (P) cct (P) gga (G) gat (D) gac (D) tgc (C) ctt (L) tat (Y) gac (D) ctc (L) cat (H) ggt (G) cga (R) agc (S) tct (S) gag (E) atg (M) ttt (F) gac (D) ccc (P) ttc (F) tta (L) aac (N) ttt (F) gag (E) ccc (P) ttt (F) ttg (L) tcc (S) tcc (S) cgg (R) cca (P) cct (P) ggg (G) gca (A) atg (M) gag (E) aca (T) gag (E) gaa (E) gaa (E) cgg (R) cta (L) gtg (V) acc (T) atc (I) cag (Q) aaa (K) cag (Q) ttg (L) ttg (L) tat (Y) tgg (W) gag (E) ctt (L) cgg (R) cgg (R) gag (E) cag (Q) ctt (L) gag (E) gcc (A) cag (Q) gag (E) gca (A) cgt (R) gcc (A) cga (R) gaa (E) gct (A) cat (H) gcc (A) agg (R) gag (E) gcc (A) cac (H) gcc (A) agg (R) gag (E) gcc (A) tat (Y) act (T) cga (R) gag (E) gct (A) tat (Y) ggc (G) agg (R) gaa (E) gcc (A) tat (Y) gcc (A) agg (R) gag (E) gcc (A) cac (H) act (T) tgg (W) gaa (E) gct (A) cat (H) ggc (G) agg (R) gag (E) gcc (A) aga (R) acc (T) cga (R) gaa (E) gcc (A) cag (Q) gcc (A) cga (R) gag (E) gtt (V) cgt (R) tgt (C) aga (R) gag (E) act (T) caa (Q) gtc (V) cga (R) gag (E) acc (T) cag (Q) gcc (A) cgg (R) cag (Q) gag (E) aag (K) ccc (P) gtc (V) tta (L) gag (E) tat (Y) cag (Q) atg (M) agg (R) ccc (P) tta (L) ggc (G) cca (P) tca (S) gtg (V) atg (M) ggc (G) ctg (L) gca (A) gca (A) ggg (G) gta (V) tca (S) ggg (G) acc (T) tct (S) cag (Q) att (I) tcc (S) cac (H) cgg (R) gga (G) att (I) acc (T) tca (S) gct (A) ttc (F) ccc (P) acc (T) act (T) gca (A) agc (S) agc (S) gag (E) cca (P) gac (D) tgg (W) agg (R) gac (D) ttc (F) cgt (R) cct (P) ctg (L) gag (E) aag (K) cgt (R) tat (Y) gaa (E) gga (G) acc (T) tgc (C) tcc (S) aag (K) aaa (K) gat (D) caa (Q) agt (S) acc (T) tgc (C) ctg (L) atg (M) cag (Q) ctc (L) ttc (F) cag (Q) agt (S) gat (D) gcc (A) atg (M) ttt (F) gag (E) cca (P) gac (D) atg (M) caa (Q) gaa (E) gca (A) aat (N) ttt (F) gga (G) gga (G) tct (S) ccc (P) agg (R) agg (R) gcc (A) tac (Y) cct (P) act (T) tat (Y) tca (S) ccc (P) cct (P) gaa (E) gat (D) cca (P) gag (E) gaa (E) gag (E) gag (E) gtt (V) gag (E) aag (K) gaa (E) ggg (G) aat (N) gcc (A) act (T) gtg (V) agt (S) ttc (F) tca (S) cag (Q) gcc (A) ctg (L) gta (V) gag (E) ttc (F) acc (T) agc (S) aat (N) ggg (G) aac (N) ctc (L) ttt (F) tcc (S) agc (S) aga (R) aga (R) tgc (C) cca (P) ggt (G) act (T) gaa (E) gac (D) aaa (K) cgc (R) caa (Q) gtg (V) act (T) cag (Q) gcg (A) tgt (C) ggg (G) acc (T) tgg (W) tag (TER) wt inframe deln region length = 805 first wt aa affected by inframe deletion is : atg (M) 1 M 805 * bone FBXW7 1 c.349_351delGAG p.E117del length of cdnaseq = 2124 length of protseq = 707 349 351 GAG 3 117 1 117 3 gag Total no. of codons in cdna seq = 708 gag gag prev g start g-g post a end g-a --- --- No joining codon length of cdnaseq after deletion = 2121 ter codon is tga at posn 707 Protein length after deletion = 706 Total no. of codons in del cdnaseq = 707 last codon in array is tga gag (E) gag (E) gag (E) gag (E) atg (M) gac (D) cag (Q) gag (E) gag (E) gag (E) atg (M) gac (D) cag (Q) gag (E) wild type sequence in deletion region: gag (E) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gag (E) 117 E 117 E - large_intestine FBXW7 1 c.1736_1741delGGCACC p.G579_Q581>E length of cdnaseq = 2124 length of protseq = 707 1736 1741 GGCACC 6 579 2 581 1 ggcacc Total no. of codons in cdna seq = 708 ggg cag start g-g end c-a g-- -ag gag (E) length of cdnaseq after deletion = 2118 ter codon is tga at posn 706 Protein length after deletion = 705 Total no. of codons in del cdnaseq = 706 last codon in array is tga tta (L) aca (T) ggg (G) cag (Q) tcg (S) tta (L) aca (T) agt (S) tta (L) aca (T) gag (E) tcg (S) tta (L) aca (T) wild type sequence in deletion region: ggg (G) cac (H) cag (Q) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : ggg (G) 579 G 581 Q E haematopoietic_and_lymphoid_tissue FLT3 1 c.1777_1779delGAT p.D593del length of cdnaseq = 2982 length of protseq = 993 1777 1779 GAT 3 593 1 593 3 gat Total no. of codons in cdna seq = 994 gat gat prev t start t-g post t end t-t --- --- No joining codon length of cdnaseq after deletion = 2979 ter codon is tag at posn 993 Protein length after deletion = 992 Total no. of codons in del cdnaseq = 993 last codon in array is tag tac (Y) gtt (V) gat (D) gat (D) ttc (F) aga (R) gaa (E) tat (Y) tac (Y) gtt (V) ttc (F) aga (R) gaa (E) tat (Y) wild type sequence in deletion region: gat (D) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gat (D) 593 D 593 D - haematopoietic_and_lymphoid_tissue FLT3 1 c.2500_2505delCGAGAT p.R834_D835del length of cdnaseq = 2982 length of protseq = 993 2500 2505 CGAGAT 6 834 1 835 3 cgagat Total no. of codons in cdna seq = 994 cga gat prev t start t-c post a end t-a --- --- No joining codon length of cdnaseq after deletion = 2976 ter codon is tag at posn 992 Protein length after deletion = 991 Total no. of codons in del cdnaseq = 992 last codon in array is tag ttg (L) gct (A) cga (R) gat (D) atc (I) atg (M) agt (S) gat (D) ttg (L) gct (A) atc (I) atg (M) agt (S) gat (D) wild type sequence in deletion region: cga (R) gat (D) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cga (R) 834 R 835 D haematopoietic_and_lymphoid_tissue FLT3 1 c.2503_2505delGAT p.D835del length of cdnaseq = 2982 length of protseq = 993 2503 2505 GAT 3 835 1 835 3 gat Total no. of codons in cdna seq = 994 gat gat prev a start a-g post a end t-a --- --- No joining codon length of cdnaseq after deletion = 2979 ter codon is tag at posn 993 Protein length after deletion = 992 Total no. of codons in del cdnaseq = 993 last codon in array is tag gct (A) cga (R) gat (D) gat (D) atc (I) atg (M) agt (S) gat (D) gct (A) cga (R) atc (I) atg (M) agt (S) gat (D) wild type sequence in deletion region: gat (D) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gat (D) 835 D 835 D - haematopoietic_and_lymphoid_tissue FLT3 1 c.2504_2506delATA p.D835_I836>V length of cdnaseq = 2982 length of protseq = 993 2504 2506 ATA 3 835 2 836 1 ata Total no. of codons in cdna seq = 994 gat atc start g-a end a-t g-- -tc gtc (V) length of cdnaseq after deletion = 2979 ter codon is tag at posn 993 Protein length after deletion = 992 Total no. of codons in del cdnaseq = 993 last codon in array is tag gct (A) cga (R) gat (D) atc (I) atg (M) agt (S) gat (D) tcc (S) gct (A) cga (R) gtc (V) atg (M) agt (S) gat (D) wild type sequence in deletion region: gat (D) atc (I) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gat (D) 835 D 836 I V haematopoietic_and_lymphoid_tissue FLT3 3 c.2508_2510delCAT p.I836del length of cdnaseq = 2982 length of protseq = 993 2508 2510 CAT 3 836 3 837 2 cat Total no. of codons in cdna seq = 994 atc atg start t-c end t-g at- --g atg (M) length of cdnaseq after deletion = 2979 ter codon is tag at posn 993 Protein length after deletion = 992 Total no. of codons in del cdnaseq = 993 last codon in array is tag cga (R) gat (D) atc (I) atg (M) agt (S) gat (D) tcc (S) aac (N) cga (R) gat (D) atg (M) agt (S) gat (D) tcc (S) wild type sequence in deletion region: atc (I) atg (M) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : atc (I) 836 I 836 I - haematopoietic_and_lymphoid_tissue FLT3 8 c.2506_2508delATC p.I836del length of cdnaseq = 2982 length of protseq = 993 2506 2508 ATC 3 836 1 836 3 atc Total no. of codons in cdna seq = 994 atc atc prev t start t-a post a end c-a --- --- No joining codon length of cdnaseq after deletion = 2979 ter codon is tag at posn 993 Protein length after deletion = 992 Total no. of codons in del cdnaseq = 993 last codon in array is tag cga (R) gat (D) atc (I) atc (I) atg (M) agt (S) gat (D) tcc (S) cga (R) gat (D) atg (M) agt (S) gat (D) tcc (S) wild type sequence in deletion region: atc (I) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : atc (I) 836 I 836 I - haematopoietic_and_lymphoid_tissue GATA1 1 c.164_220del57 p.A55_V74del length of cdnaseq = 1242 length of protseq = 413 164 220 57 57 55 2 74 1 ctgcagctgcggcactggcctactacagggacgctgaggcctacagacactccccag Total no. of codons in cdna seq = 414 gct gtc start g-c end g-t g-- -tc gtc (V) length of cdnaseq after deletion = 1185 ter codon is tga at posn 395 Protein length after deletion = 394 Total no. of codons in del cdnaseq = 395 last codon in array is tga gcc (A) acc (T) gct (A) gtc (V) ttt (F) cag (Q) gtg (V) tac (Y) gcc (A) acc (T) gtc (V) ttt (F) cag (Q) gtg (V) wild type sequence in deletion region: gct (A) gca (A) gct (A) gcg (A) gca (A) ctg (L) gcc (A) tac (Y) tac (Y) agg (R) gac (D) gct (A) gag (E) gcc (A) tac (Y) aga (R) cac (H) tcc (S) cca (P) gtc (V) wt inframe deln region length = 20 first wt aa affected by inframe deletion is : gct (A) 55 A 74 V haematopoietic_and_lymphoid_tissue GATA1 1 c.212_220del9 p.H71_V74>L length of cdnaseq = 1242 length of protseq = 413 212 220 9 9 71 2 74 1 actccccag Total no. of codons in cdna seq = 414 cac gtc start c-a end g-t c-- -tc ctc (L) length of cdnaseq after deletion = 1233 ter codon is tga at posn 411 Protein length after deletion = 410 Total no. of codons in del cdnaseq = 411 last codon in array is tga tac (Y) aga (R) cac (H) gtc (V) ttt (F) cag (Q) gtg (V) tac (Y) tac (Y) aga (R) ctc (L) ttt (F) cag (Q) gtg (V) wild type sequence in deletion region: cac (H) tcc (S) cca (P) gtc (V) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : cac (H) 71 H 74 V L haematopoietic_and_lymphoid_tissue GATA1 1 c.230_358del129 p.V77_A120>A length of cdnaseq = 1242 length of protseq = 413 230 358 129 129 77 2 120 1 tgtacccattgctcaactgtatggaggggatcccagggggctcaccatatgccggctgggcctacggcaagacggggctctaccctgcctcaactgtgtgtcccacccgcgaggactctcctccccagg Total no. of codons in cdna seq = 414 gtg gcc start g-t end g-c g-- -cc gcc (A) length of cdnaseq after deletion = 1113 ter codon is tga at posn 371 Protein length after deletion = 370 Total no. of codons in del cdnaseq = 371 last codon in array is tga ttt (F) cag (Q) gtg (V) gcc (A) gtg (V) gaa (E) gat (D) ctg (L) ttt (F) cag (Q) gcc (A) gtg (V) gaa (E) gat (D) wild type sequence in deletion region: gtg (V) tac (Y) cca (P) ttg (L) ctc (L) aac (N) tgt (C) atg (M) gag (E) ggg (G) atc (I) cca (P) ggg (G) ggc (G) tca (S) cca (P) tat (Y) gcc (A) ggc (G) tgg (W) gcc (A) tac (Y) ggc (G) aag (K) acg (T) ggg (G) ctc (L) tac (Y) cct (P) gcc (A) tca (S) act (T) gtg (V) tgt (C) ccc (P) acc (T) cgc (R) gag (E) gac (D) tct (S) cct (P) ccc (P) cag (Q) gcc (A) wt inframe deln region length = 44 first wt aa affected by inframe deletion is : gtg (V) 77 V 120 A A liver HNF1A 1 c.71_82del12 p.A25_Q28del length of cdnaseq = 1896 length of protseq = 631 71 82 12 12 24 2 28 1 aggcactgatcc Total no. of codons in cdna seq = 632 gag cag start g-a end c-a g-- -ag gag (E) length of cdnaseq after deletion = 1884 ter codon is taa at posn 628 Protein length after deletion = 627 Total no. of codons in del cdnaseq = 628 last codon in array is taa agc (S) aaa (K) gag (E) cag (Q) gca (A) ctg (L) ggt (G) gag (E) agc (S) aaa (K) gag (E) gca (A) ctg (L) ggt (G) wild type sequence in deletion region: gag (E) gca (A) ctg (L) atc (I) cag (Q) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : gca (A) 25 A 28 Q liver HNF1A 1 c.747_764del18 p.Q250_G255del length of cdnaseq = 1896 length of protseq = 631 747 764 18 18 249 3 255 2 acaggcacaggggctggg Total no. of codons in cdna seq = 632 tca ggc start c-a end g-c tc- --c tcc (S) length of cdnaseq after deletion = 1878 ter codon is taa at posn 626 Protein length after deletion = 625 Total no. of codons in del cdnaseq = 626 last codon in array is taa tcc (S) cca (P) tca (S) ggc (G) tcc (S) aac (N) ctc (L) gtc (V) tcc (S) cca (P) tcc (S) tcc (S) aac (N) ctc (L) wild type sequence in deletion region: tca (S) cag (Q) gca (A) cag (Q) ggg (G) ctg (L) ggc (G) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : cag (Q) 250 Q 255 G liver HNF1A 1 c.829_837del9 p.F277_H279del length of cdnaseq = 1896 length of protseq = 631 829 837 9 9 277 1 279 3 ttccggcac Total no. of codons in cdna seq = 632 ttc cac prev c start c-t post a end c-a --- --- No joining codon length of cdnaseq after deletion = 1887 ter codon is taa at posn 629 Protein length after deletion = 628 Total no. of codons in del cdnaseq = 629 last codon in array is taa gaa (E) gcc (A) ttc (F) cac (H) aag (K) ctg (L) gcc (A) atg (M) gaa (E) gcc (A) aag (K) ctg (L) gcc (A) atg (M) wild type sequence in deletion region: ttc (F) cgg (R) cac (H) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : ttc (F) 277 F 279 H haematopoietic_and_lymphoid_tissue JAK2 12 c.1611_1616delTCACAA p.F537_K539>L length of cdnaseq = 3399 length of protseq = 1132 1611 1616 TCACAA 6 537 3 539 2 tcacaa Total no. of codons in cdna seq = 1133 ttt aaa start t-t end a-a tt- --a tta (L) length of cdnaseq after deletion = 3393 ter codon is tga at posn 1131 Protein length after deletion = 1130 Total no. of codons in del cdnaseq = 1131 last codon in array is tga atg (M) gtg (V) ttt (F) aaa (K) atc (I) aga (R) aat (N) gaa (E) atg (M) gtg (V) tta (L) atc (I) aga (R) aat (N) wild type sequence in deletion region: ttt (F) cac (H) aaa (K) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : ttt (F) 537 F 539 K L haematopoietic_and_lymphoid_tissue JAK2 13 c.1622_1627delGAAATG p.R541_E543>K length of cdnaseq = 3399 length of protseq = 1132 1622 1627 GAAATG 6 541 2 543 1 gaaatg Total no. of codons in cdna seq = 1133 aga gaa start a-g end g-a a-- -aa aaa (K) length of cdnaseq after deletion = 3393 ter codon is tga at posn 1131 Protein length after deletion = 1130 Total no. of codons in del cdnaseq = 1131 last codon in array is tga aaa (K) atc (I) aga (R) gaa (E) gat (D) ttg (L) ata (I) ttt (F) aaa (K) atc (I) aaa (K) gat (D) ttg (L) ata (I) wild type sequence in deletion region: aga (R) aat (N) gaa (E) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : aga (R) 541 R 543 E K haematopoietic_and_lymphoid_tissue JAK2 1 c.1612_1614delCAC p.H538del length of cdnaseq = 3399 length of protseq = 1132 1612 1614 CAC 3 538 1 538 3 cac Total no. of codons in cdna seq = 1133 cac cac prev t start t-c post a end c-a --- --- No joining codon length of cdnaseq after deletion = 3396 ter codon is tga at posn 1132 Protein length after deletion = 1131 Total no. of codons in del cdnaseq = 1132 last codon in array is tga gtg (V) ttt (F) cac (H) cac (H) aaa (K) atc (I) aga (R) aat (N) gtg (V) ttt (F) aaa (K) atc (I) aga (R) aat (N) wild type sequence in deletion region: cac (H) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : cac (H) 538 H 538 H - haematopoietic_and_lymphoid_tissue JAK2 1 c.1612_1617delCACAAA p.H538_K539del length of cdnaseq = 3399 length of protseq = 1132 1612 1617 CACAAA 6 538 1 539 3 cacaaa Total no. of codons in cdna seq = 1133 cac aaa prev t start t-c post a end a-a --- --- No joining codon length of cdnaseq after deletion = 3393 ter codon is tga at posn 1131 Protein length after deletion = 1130 Total no. of codons in del cdnaseq = 1131 last codon in array is tga gtg (V) ttt (F) cac (H) aaa (K) atc (I) aga (R) aat (N) gaa (E) gtg (V) ttt (F) atc (I) aga (R) aat (N) gaa (E) wild type sequence in deletion region: cac (H) aaa (K) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cac (H) 538 H 539 K haematopoietic_and_lymphoid_tissue JAK2 24 c.1627_1632delGAAGAT p.E543_D544del length of cdnaseq = 3399 length of protseq = 1132 1627 1632 GAAGAT 6 543 1 544 3 gaagat Total no. of codons in cdna seq = 1133 gaa gat prev t start t-g post t end t-t --- --- No joining codon length of cdnaseq after deletion = 3393 ter codon is tga at posn 1131 Protein length after deletion = 1130 Total no. of codons in del cdnaseq = 1131 last codon in array is tga aga (R) aat (N) gaa (E) gat (D) ttg (L) ata (I) ttt (F) aat (N) aga (R) aat (N) ttg (L) ata (I) ttt (F) aat (N) wild type sequence in deletion region: gaa (E) gat (D) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gaa (E) 543 E 544 D haematopoietic_and_lymphoid_tissue JAK2 44 c.1624_1629delAATGAA p.N542_E543del length of cdnaseq = 3399 length of protseq = 1132 1624 1629 AATGAA 6 542 1 543 3 aatgaa Total no. of codons in cdna seq = 1133 aat gaa prev a start a-a post g end a-g --- --- No joining codon length of cdnaseq after deletion = 3393 ter codon is tga at posn 1131 Protein length after deletion = 1130 Total no. of codons in del cdnaseq = 1131 last codon in array is tga atc (I) aga (R) aat (N) gaa (E) gat (D) ttg (L) ata (I) ttt (F) atc (I) aga (R) gat (D) ttg (L) ata (I) ttt (F) wild type sequence in deletion region: aat (N) gaa (E) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aat (N) 542 N 543 E soft_tissue KIT 13 c.1735_1737delGAT p.D579del length of cdnaseq = 2931 length of protseq = 976 1735 1737 GAT 3 579 1 579 3 gat Total no. of codons in cdna seq = 977 gat gat prev t start t-g post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga cct (P) tat (Y) gat (D) gat (D) cac (H) aaa (K) tgg (W) gag (E) cct (P) tat (Y) cac (H) aaa (K) tgg (W) gag (E) wild type sequence in deletion region: gat (D) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gat (D) 579 D 579 D - soft_tissue KIT 16 c.1670_1675delGGAAGG p.W557_V559>F length of cdnaseq = 2931 length of protseq = 976 1670 1675 GGAAGG 6 557 2 559 1 ggaagg Total no. of codons in cdna seq = 977 tgg gtt start t-g end g-t t-- -tt ttt (F) length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga gta (V) cag (Q) tgg (W) gtt (V) gtt (V) gag (E) gag (E) ata (I) gta (V) cag (Q) ttt (F) gtt (V) gag (E) gag (E) wild type sequence in deletion region: tgg (W) aag (K) gtt (V) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : tgg (W) 557 W 559 V F soft_tissue KIT 17 c.1675_1677delGTT p.V559del length of cdnaseq = 2931 length of protseq = 976 1675 1677 GTT 3 559 1 559 3 gtt Total no. of codons in cdna seq = 977 gtt gtt prev g start g-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga tgg (W) aag (K) gtt (V) gtt (V) gtt (V) gag (E) gag (E) ata (I) tgg (W) aag (K) gtt (V) gag (E) gag (E) ata (I) wild type sequence in deletion region: gtt (V) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : aag (K) 559 V 559 V - K V 17 soft_tissue KIT c.1675_1677delGTT p.V559del soft_tissue KIT 1 c.1648_1653delAAACCC p.K550_P551del length of cdnaseq = 2931 length of protseq = 976 1648 1653 AAACCC 6 550 1 551 3 aaaccc Total no. of codons in cdna seq = 977 aaa ccc prev g start g-a post a end c-a --- --- No joining codon length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga tta (L) cag (Q) aaa (K) ccc (P) atg (M) tat (Y) gaa (E) gta (V) tta (L) cag (Q) atg (M) tat (Y) gaa (E) gta (V) wild type sequence in deletion region: aaa (K) ccc (P) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aaa (K) 550 K 551 P soft_tissue KIT 1 c.1648_1671del24 p.K550_W557del length of cdnaseq = 2931 length of protseq = 976 1648 1671 24 24 550 1 557 3 aaacccatgtatgaagtacagtgg Total no. of codons in cdna seq = 977 aaa tgg prev g start g-a post a end g-a --- --- No joining codon length of cdnaseq after deletion = 2907 ter codon is tga at posn 969 Protein length after deletion = 968 Total no. of codons in del cdnaseq = 969 last codon in array is tga tta (L) cag (Q) aaa (K) tgg (W) aag (K) gtt (V) gtt (V) gag (E) tta (L) cag (Q) aag (K) gtt (V) gtt (V) gag (E) wild type sequence in deletion region: aaa (K) ccc (P) atg (M) tat (Y) gaa (E) gta (V) cag (Q) tgg (W) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : ccc (P) 550 K 557 W P K 1 soft_tissue KIT c.1648_1671del24 p.K550_W557del soft_tissue KIT 1 c.1649_1663del15 p.K550_V555>I length of cdnaseq = 2931 length of protseq = 976 1649 1663 15 15 550 2 555 1 aacccatgtatgaag Total no. of codons in cdna seq = 977 aaa gta start a-a end g-t a-- -ta ata (I) length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga tta (L) cag (Q) aaa (K) gta (V) cag (Q) tgg (W) aag (K) gtt (V) tta (L) cag (Q) ata (I) cag (Q) tgg (W) aag (K) wild type sequence in deletion region: aaa (K) ccc (P) atg (M) tat (Y) gaa (E) gta (V) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : aaa (K) 550 K 555 V I soft_tissue KIT 1 c.1651_1653delCCC p.P551del length of cdnaseq = 2931 length of protseq = 976 1651 1653 CCC 3 551 1 551 3 ccc Total no. of codons in cdna seq = 977 ccc ccc prev a start a-c post a end c-a --- --- No joining codon length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga cag (Q) aaa (K) ccc (P) ccc (P) atg (M) tat (Y) gaa (E) gta (V) cag (Q) aaa (K) atg (M) tat (Y) gaa (E) gta (V) wild type sequence in deletion region: ccc (P) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : ccc (P) 551 P 551 P - soft_tissue KIT 1 c.1652_1663del12 p.P551_V555>L length of cdnaseq = 2931 length of protseq = 976 1652 1663 12 12 551 2 555 1 ccatgtatgaag Total no. of codons in cdna seq = 977 ccc gta start c-c end g-t c-- -ta cta (L) length of cdnaseq after deletion = 2919 ter codon is tga at posn 973 Protein length after deletion = 972 Total no. of codons in del cdnaseq = 973 last codon in array is tga cag (Q) aaa (K) ccc (P) gta (V) cag (Q) tgg (W) aag (K) gtt (V) cag (Q) aaa (K) cta (L) cag (Q) tgg (W) aag (K) wild type sequence in deletion region: ccc (P) atg (M) tat (Y) gaa (E) gta (V) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : ccc (P) 551 P 555 V L soft_tissue KIT 1 c.1652_1678del27 p.P551_V559del>L length of cdnaseq = 2931 length of protseq = 976 1652 1678 27 27 551 2 560 1 ccatgtatgaagtacagtggaaggttg Total no. of codons in cdna seq = 977 ccc gtt start c-c end g-t c-- -tt ctt (L) length of cdnaseq after deletion = 2904 ter codon is tga at posn 968 Protein length after deletion = 967 Total no. of codons in del cdnaseq = 968 last codon in array is tga cag (Q) aaa (K) ccc (P) gtt (V) gag (E) gag (E) ata (I) aat (N) cag (Q) aaa (K) ctt (L) gag (E) gag (E) ata (I) wild type sequence in deletion region: ccc (P) atg (M) tat (Y) gaa (E) gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) wt inframe deln region length = 10 first wt aa affected by inframe deletion is : ccc (P) 551 P 559 V >L soft_tissue KIT 1 c.1653_1670del18 p.M552_W557del length of cdnaseq = 2931 length of protseq = 976 1653 1670 18 18 551 3 557 2 catgtatgaagtacagtg Total no. of codons in cdna seq = 977 ccc tgg start c-c end g-g cc- --g ccg (P) length of cdnaseq after deletion = 2913 ter codon is tga at posn 971 Protein length after deletion = 970 Total no. of codons in del cdnaseq = 971 last codon in array is tga cag (Q) aaa (K) ccc (P) tgg (W) aag (K) gtt (V) gtt (V) gag (E) cag (Q) aaa (K) ccg (P) aag (K) gtt (V) gtt (V) wild type sequence in deletion region: ccc (P) atg (M) tat (Y) gaa (E) gta (V) cag (Q) tgg (W) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : atg (M) 552 M 557 W soft_tissue KIT 1 c.1654_1668del15 p.M552_Q556del length of cdnaseq = 2931 length of protseq = 976 1654 1668 15 15 552 1 556 3 atgtatgaagtacag Total no. of codons in cdna seq = 977 atg cag prev c start c-a post t end g-t --- --- No joining codon length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga aaa (K) ccc (P) atg (M) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) aaa (K) ccc (P) tgg (W) aag (K) gtt (V) gtt (V) wild type sequence in deletion region: atg (M) tat (Y) gaa (E) gta (V) cag (Q) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : atg (M) 552 M 556 Q soft_tissue KIT 1 c.1654_1671del18 p.M552_W557del length of cdnaseq = 2931 length of protseq = 976 1654 1671 18 18 552 1 557 3 atgtatgaagtacagtgg Total no. of codons in cdna seq = 977 atg tgg prev c start c-a post a end g-a --- --- No joining codon length of cdnaseq after deletion = 2913 ter codon is tga at posn 971 Protein length after deletion = 970 Total no. of codons in del cdnaseq = 971 last codon in array is tga aaa (K) ccc (P) atg (M) tgg (W) aag (K) gtt (V) gtt (V) gag (E) aaa (K) ccc (P) aag (K) gtt (V) gtt (V) gag (E) wild type sequence in deletion region: atg (M) tat (Y) gaa (E) gta (V) cag (Q) tgg (W) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : atg (M) 552 M 557 W soft_tissue KIT 1 c.1654_1674del21 p.M552_K558del length of cdnaseq = 2931 length of protseq = 976 1654 1674 21 21 552 1 558 3 atgtatgaagtacagtggaag Total no. of codons in cdna seq = 977 atg aag prev c start c-a post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2910 ter codon is tga at posn 970 Protein length after deletion = 969 Total no. of codons in del cdnaseq = 970 last codon in array is tga aaa (K) ccc (P) atg (M) aag (K) gtt (V) gtt (V) gag (E) gag (E) aaa (K) ccc (P) gtt (V) gtt (V) gag (E) gag (E) wild type sequence in deletion region: atg (M) tat (Y) gaa (E) gta (V) cag (Q) tgg (W) aag (K) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : atg (M) 552 M 558 K soft_tissue KIT 1 c.1655_1663del9 p.M552_V555>I length of cdnaseq = 2931 length of protseq = 976 1655 1663 9 9 552 2 555 1 tgtatgaag Total no. of codons in cdna seq = 977 atg gta start a-t end g-t a-- -ta ata (I) length of cdnaseq after deletion = 2922 ter codon is tga at posn 974 Protein length after deletion = 973 Total no. of codons in del cdnaseq = 974 last codon in array is tga aaa (K) ccc (P) atg (M) gta (V) cag (Q) tgg (W) aag (K) gtt (V) aaa (K) ccc (P) ata (I) cag (Q) tgg (W) aag (K) wild type sequence in deletion region: atg (M) tat (Y) gaa (E) gta (V) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : atg (M) 552 M 555 V I soft_tissue KIT 1 c.1657_1677del21 p.Y553_V559del length of cdnaseq = 2931 length of protseq = 976 1657 1677 21 21 553 1 559 3 tatgaagtacagtggaaggtt Total no. of codons in cdna seq = 977 tat gtt prev g start g-t post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2910 ter codon is tga at posn 970 Protein length after deletion = 969 Total no. of codons in del cdnaseq = 970 last codon in array is tga ccc (P) atg (M) tat (Y) gtt (V) gtt (V) gag (E) gag (E) ata (I) ccc (P) atg (M) gtt (V) gag (E) gag (E) ata (I) wild type sequence in deletion region: tat (Y) gaa (E) gta (V) cag (Q) tgg (W) aag (K) gtt (V) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : tat (Y) 553 Y 559 V soft_tissue KIT 1 c.1663_1668delGTACAG p.V555_Q556del length of cdnaseq = 2931 length of protseq = 976 1663 1668 GTACAG 6 555 1 556 3 gtacag Total no. of codons in cdna seq = 977 gta cag prev a start a-g post t end g-t --- --- No joining codon length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga tat (Y) gaa (E) gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) tat (Y) gaa (E) tgg (W) aag (K) gtt (V) gtt (V) wild type sequence in deletion region: gta (V) cag (Q) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gta (V) 555 V 556 Q soft_tissue KIT 1 c.1663_1689del27 p.V555_I563del length of cdnaseq = 2931 length of protseq = 976 1663 1689 27 27 555 1 563 3 gtacagtggaaggttgttgaggagata Total no. of codons in cdna seq = 977 gta ata prev a start a-g post a end a-a --- --- No joining codon length of cdnaseq after deletion = 2904 ter codon is tga at posn 968 Protein length after deletion = 967 Total no. of codons in del cdnaseq = 968 last codon in array is tga tat (Y) gaa (E) gta (V) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gaa (E) aat (N) gga (G) aac (N) aat (N) wild type sequence in deletion region: gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : gta (V) 555 V 563 I soft_tissue KIT 1 c.1663_1710del48 p.V555_Y570del length of cdnaseq = 2931 length of protseq = 976 1663 1710 48 48 555 1 570 3 gtacagtggaaggttgttgaggagataaatggaaacaattatgtttac Total no. of codons in cdna seq = 977 gta tac prev a start a-g post a end c-a --- --- No joining codon length of cdnaseq after deletion = 2883 ter codon is tga at posn 961 Protein length after deletion = 960 Total no. of codons in del cdnaseq = 961 last codon in array is tga tat (Y) gaa (E) gta (V) tac (Y) ata (I) gac (D) cca (P) aca (T) tat (Y) gaa (E) ata (I) gac (D) cca (P) aca (T) wild type sequence in deletion region: gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) wt inframe deln region length = 16 first wt aa affected by inframe deletion is : gta (V) 555 V 570 Y soft_tissue KIT 1 c.1663_1719del57 p.V555_P573del length of cdnaseq = 2931 length of protseq = 976 1663 1719 57 57 555 1 573 3 gtacagtggaaggttgttgaggagataaatggaaacaattatgtttacatagaccca Total no. of codons in cdna seq = 977 gta cca prev a start a-g post a end a-a --- --- No joining codon length of cdnaseq after deletion = 2874 ter codon is tga at posn 958 Protein length after deletion = 957 Total no. of codons in del cdnaseq = 958 last codon in array is tga tat (Y) gaa (E) gta (V) cca (P) aca (T) caa (Q) ctt (L) cct (P) tat (Y) gaa (E) aca (T) caa (Q) ctt (L) cct (P) wild type sequence in deletion region: gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) wt inframe deln region length = 19 first wt aa affected by inframe deletion is : gta (V) 555 V 573 P soft_tissue KIT 1 c.1665_1679del15 p.V555_V560>V length of cdnaseq = 2931 length of protseq = 976 1665 1679 15 15 555 3 560 2 acagtggaaggttgt Total no. of codons in cdna seq = 977 gta gtt start t-a end t-t gt- --t gtt (V) length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga tat (Y) gaa (E) gta (V) gtt (V) gag (E) gag (E) ata (I) aat (N) tat (Y) gaa (E) gtt (V) gag (E) gag (E) ata (I) wild type sequence in deletion region: gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : cag (Q) 555 V 560 V V Q V 1 soft_tissue KIT c.1665_1679del15 p.V555_V560>V soft_tissue KIT 1 c.1666_1683del18 p.Q556_E561del length of cdnaseq = 2931 length of protseq = 976 1666 1683 18 18 556 1 561 3 cagtggaaggttgttgag Total no. of codons in cdna seq = 977 cag gag prev a start a-c post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2913 ter codon is tga at posn 971 Protein length after deletion = 970 Total no. of codons in del cdnaseq = 971 last codon in array is tga gaa (E) gta (V) cag (Q) gag (E) gag (E) ata (I) aat (N) gga (G) gaa (E) gta (V) gag (E) ata (I) aat (N) gga (G) wild type sequence in deletion region: cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : cag (Q) 556 Q 561 E soft_tissue KIT 1 c.1666_1722del57 p.Q556_T574del length of cdnaseq = 2931 length of protseq = 976 1666 1722 57 57 556 1 574 3 cagtggaaggttgttgaggagataaatggaaacaattatgtttacatagacccaaca Total no. of codons in cdna seq = 977 cag aca prev a start a-c post c end a-c --- --- No joining codon length of cdnaseq after deletion = 2874 ter codon is tga at posn 958 Protein length after deletion = 957 Total no. of codons in del cdnaseq = 958 last codon in array is tga gaa (E) gta (V) cag (Q) aca (T) caa (Q) ctt (L) cct (P) tat (Y) gaa (E) gta (V) caa (Q) ctt (L) cct (P) tat (Y) wild type sequence in deletion region: cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) aca (T) wt inframe deln region length = 19 first wt aa affected by inframe deletion is : tgg (W) 556 Q 574 T W Q 1 soft_tissue KIT c.1666_1722del57 p.Q556_T574del soft_tissue KIT 1 c.1666_1728del63 p.Q556_L576del length of cdnaseq = 2931 length of protseq = 976 1666 1728 63 63 556 1 576 3 cagtggaaggttgttgaggagataaatggaaacaattatgtttacatagacccaacacaactt Total no. of codons in cdna seq = 977 cag ctt prev a start a-c post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2868 ter codon is tga at posn 956 Protein length after deletion = 955 Total no. of codons in del cdnaseq = 956 last codon in array is tga gaa (E) gta (V) cag (Q) ctt (L) cct (P) tat (Y) gat (D) cac (H) gaa (E) gta (V) cct (P) tat (Y) gat (D) cac (H) wild type sequence in deletion region: cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) aca (T) caa (Q) ctt (L) wt inframe deln region length = 21 first wt aa affected by inframe deletion is : cag (Q) 556 Q 576 L soft_tissue KIT 1 c.1668_1712del45 p.W557_I571del length of cdnaseq = 2931 length of protseq = 976 1668 1712 45 45 556 3 571 2 gtggaaggttgttgaggagataaatggaaacaattatgtttacat Total no. of codons in cdna seq = 977 cag ata start a-g end t-a ca- --a caa (Q) length of cdnaseq after deletion = 2886 ter codon is tga at posn 962 Protein length after deletion = 961 Total no. of codons in del cdnaseq = 962 last codon in array is tga gaa (E) gta (V) cag (Q) ata (I) gac (D) cca (P) aca (T) caa (Q) gaa (E) gta (V) caa (Q) gac (D) cca (P) aca (T) wild type sequence in deletion region: cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) wt inframe deln region length = 16 first wt aa affected by inframe deletion is : tgg (W) 557 W 571 I soft_tissue KIT 1 c.1668_1715del48 p.Q556_D572>H length of cdnaseq = 2931 length of protseq = 976 1668 1715 48 48 556 3 572 2 gtggaaggttgttgaggagataaatggaaacaattatgtttacataga Total no. of codons in cdna seq = 977 cag gac start a-g end a-c ca- --c cac (H) length of cdnaseq after deletion = 2883 ter codon is tga at posn 961 Protein length after deletion = 960 Total no. of codons in del cdnaseq = 961 last codon in array is tga gaa (E) gta (V) cag (Q) gac (D) cca (P) aca (T) caa (Q) ctt (L) gaa (E) gta (V) cac (H) cca (P) aca (T) caa (Q) wild type sequence in deletion region: cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) wt inframe deln region length = 17 first wt aa affected by inframe deletion is : cag (Q) 556 Q 572 D H soft_tissue KIT 1 c.1670_1678del9 p.W557_V560>F length of cdnaseq = 2931 length of protseq = 976 1670 1678 9 9 557 2 560 1 ggaaggttg Total no. of codons in cdna seq = 977 tgg gtt start t-g end g-t t-- -tt ttt (F) length of cdnaseq after deletion = 2922 ter codon is tga at posn 974 Protein length after deletion = 973 Total no. of codons in del cdnaseq = 974 last codon in array is tga gta (V) cag (Q) tgg (W) gtt (V) gag (E) gag (E) ata (I) aat (N) gta (V) cag (Q) ttt (F) gag (E) gag (E) ata (I) wild type sequence in deletion region: tgg (W) aag (K) gtt (V) gtt (V) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : tgg (W) 557 W 560 V F soft_tissue KIT 1 c.1672_1695del24 p.K558_G565del length of cdnaseq = 2931 length of protseq = 976 1672 1695 24 24 558 1 565 3 aaggttgttgaggagataaatgga Total no. of codons in cdna seq = 977 aag gga prev g start g-a post a end a-a --- --- No joining codon length of cdnaseq after deletion = 2907 ter codon is tga at posn 969 Protein length after deletion = 968 Total no. of codons in del cdnaseq = 969 last codon in array is tga cag (Q) tgg (W) aag (K) gga (G) aac (N) aat (N) tat (Y) gtt (V) cag (Q) tgg (W) aac (N) aat (N) tat (Y) gtt (V) wild type sequence in deletion region: aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : aag (K) 558 K 565 G soft_tissue KIT 1 c.1672_1716del45 p.K558_D572del length of cdnaseq = 2931 length of protseq = 976 1672 1716 45 45 558 1 572 3 aaggttgttgaggagataaatggaaacaattatgtttacatagac Total no. of codons in cdna seq = 977 aag gac prev g start g-a post c end c-c --- --- No joining codon length of cdnaseq after deletion = 2886 ter codon is tga at posn 962 Protein length after deletion = 961 Total no. of codons in del cdnaseq = 962 last codon in array is tga cag (Q) tgg (W) aag (K) gac (D) cca (P) aca (T) caa (Q) ctt (L) cag (Q) tgg (W) cca (P) aca (T) caa (Q) ctt (L) wild type sequence in deletion region: aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) wt inframe deln region length = 15 first wt aa affected by inframe deletion is : aag (K) 558 K 572 D soft_tissue KIT 1 c.1673_1693del21 p.K558_G565>R length of cdnaseq = 2931 length of protseq = 976 1673 1693 21 21 558 2 565 1 aggttgttgaggagataaatg Total no. of codons in cdna seq = 977 aag gga start a-a end g-g a-- -ga aga (R) length of cdnaseq after deletion = 2910 ter codon is tga at posn 970 Protein length after deletion = 969 Total no. of codons in del cdnaseq = 970 last codon in array is tga cag (Q) tgg (W) aag (K) gga (G) aac (N) aat (N) tat (Y) gtt (V) cag (Q) tgg (W) aga (R) aac (N) aat (N) tat (Y) wild type sequence in deletion region: aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : aag (K) 558 K 565 G R soft_tissue KIT 1 c.1674_1676delGGT p.K558_V559>N length of cdnaseq = 2931 length of protseq = 976 1674 1676 GGT 3 558 3 559 2 ggt Total no. of codons in cdna seq = 977 aag gtt start a-g end t-t aa- --t aat (N) length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) cag (Q) tgg (W) aat (N) gtt (V) gag (E) gag (E) wild type sequence in deletion region: aag (K) gtt (V) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aag (K) 558 K 559 V N soft_tissue KIT 1 c.1674_1679delGGTTGT p.K558_V560>N length of cdnaseq = 2931 length of protseq = 976 1674 1679 GGTTGT 6 558 3 560 2 ggttgt Total no. of codons in cdna seq = 977 aag gtt start a-g end t-t aa- --t aat (N) length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga cag (Q) tgg (W) aag (K) gtt (V) gag (E) gag (E) ata (I) aat (N) cag (Q) tgg (W) aat (N) gag (E) gag (E) ata (I) wild type sequence in deletion region: aag (K) gtt (V) gtt (V) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : aag (K) 558 K 560 V N soft_tissue KIT 1 c.1674_1709del36 p.K558_Y570>N length of cdnaseq = 2931 length of protseq = 976 1674 1709 36 36 558 3 570 2 ggttgttgaggagataaatggaaacaattatgttta Total no. of codons in cdna seq = 977 aag tac start a-g end a-c aa- --c aac (N) length of cdnaseq after deletion = 2895 ter codon is tga at posn 965 Protein length after deletion = 964 Total no. of codons in del cdnaseq = 965 last codon in array is tga cag (Q) tgg (W) aag (K) tac (Y) ata (I) gac (D) cca (P) aca (T) cag (Q) tgg (W) aac (N) ata (I) gac (D) cca (P) wild type sequence in deletion region: aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) wt inframe deln region length = 13 first wt aa affected by inframe deletion is : aag (K) 558 K 570 Y N soft_tissue KIT 1 c.1676_1684del9 p.V559_E561del length of cdnaseq = 2931 length of protseq = 976 1676 1684 9 9 559 2 562 1 ttgttgagg Total no. of codons in cdna seq = 977 gtt gag start g-t end g-a g-- -ag gag (E) length of cdnaseq after deletion = 2922 ter codon is tga at posn 974 Protein length after deletion = 973 Total no. of codons in del cdnaseq = 974 last codon in array is tga tgg (W) aag (K) gtt (V) gag (E) ata (I) aat (N) gga (G) aac (N) tgg (W) aag (K) gag (E) ata (I) aat (N) gga (G) wild type sequence in deletion region: gtt (V) gtt (V) gag (E) gag (E) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : gtt (V) 559 V 561 E soft_tissue KIT 1 c.1676_1687del12 p.V559_E562del length of cdnaseq = 2931 length of protseq = 976 1676 1687 12 12 559 2 563 1 ttgttgaggaga Total no. of codons in cdna seq = 977 gtt ata start g-t end a-t g-- -ta gta (V) length of cdnaseq after deletion = 2919 ter codon is tga at posn 973 Protein length after deletion = 972 Total no. of codons in del cdnaseq = 973 last codon in array is tga tgg (W) aag (K) gtt (V) ata (I) aat (N) gga (G) aac (N) aat (N) tgg (W) aag (K) gta (V) aat (N) gga (G) aac (N) wild type sequence in deletion region: gtt (V) gtt (V) gag (E) gag (E) ata (I) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : gtt (V) 559 V 562 E soft_tissue KIT 1 c.1676_1717del42 p.V559_P573>A length of cdnaseq = 2931 length of protseq = 976 1676 1717 42 42 559 2 573 1 ttgttgaggagataaatggaaacaattatgtttacatagacc Total no. of codons in cdna seq = 977 gtt cca start g-t end c-c g-- -ca gca (A) length of cdnaseq after deletion = 2889 ter codon is tga at posn 963 Protein length after deletion = 962 Total no. of codons in del cdnaseq = 963 last codon in array is tga tgg (W) aag (K) gtt (V) cca (P) aca (T) caa (Q) ctt (L) cct (P) tgg (W) aag (K) gca (A) aca (T) caa (Q) ctt (L) wild type sequence in deletion region: gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) wt inframe deln region length = 15 first wt aa affected by inframe deletion is : gtt (V) 559 V 573 P A soft_tissue KIT 1 c.1680_1682delTGA p.E561del length of cdnaseq = 2931 length of protseq = 976 1680 1682 TGA 3 560 3 561 2 tga Total no. of codons in cdna seq = 977 gtt gag start t-t end a-g gt- --g gtg (V) length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aag (K) gtt (V) gtg (V) gag (E) ata (I) aat (N) wild type sequence in deletion region: gtt (V) gag (E) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gag (E) 561 E 561 E - soft_tissue KIT 1 c.1681_1683delGAG p.E561del length of cdnaseq = 2931 length of protseq = 976 1681 1683 GAG 3 561 1 561 3 gag Total no. of codons in cdna seq = 977 gag gag prev t start t-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga gtt (V) gtt (V) gag (E) gag (E) gag (E) ata (I) aat (N) gga (G) gtt (V) gtt (V) gag (E) ata (I) aat (N) gga (G) wild type sequence in deletion region: gag (E) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gag (E) 561 E 561 E - soft_tissue KIT 1 c.1684_1719del36 p.E562_P573del length of cdnaseq = 2931 length of protseq = 976 1684 1719 36 36 562 1 573 3 gagataaatggaaacaattatgtttacatagaccca Total no. of codons in cdna seq = 977 gag cca prev g start g-g post a end a-a --- --- No joining codon length of cdnaseq after deletion = 2895 ter codon is tga at posn 965 Protein length after deletion = 964 Total no. of codons in del cdnaseq = 965 last codon in array is tga gtt (V) gag (E) gag (E) cca (P) aca (T) caa (Q) ctt (L) cct (P) gtt (V) gag (E) aca (T) caa (Q) ctt (L) cct (P) wild type sequence in deletion region: gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) wt inframe deln region length = 12 first wt aa affected by inframe deletion is : gag (E) 562 E 573 P soft_tissue KIT 1 c.1686_1706del21 p.E562_V569>D length of cdnaseq = 2931 length of protseq = 976 1686 1706 21 21 562 3 569 2 gataaatggaaacaattatgt Total no. of codons in cdna seq = 977 gag gtt start a-g end t-t ga- --t gat (D) length of cdnaseq after deletion = 2910 ter codon is tga at posn 970 Protein length after deletion = 969 Total no. of codons in del cdnaseq = 970 last codon in array is tga gtt (V) gag (E) gag (E) gtt (V) tac (Y) ata (I) gac (D) cca (P) gtt (V) gag (E) gat (D) tac (Y) ata (I) gac (D) wild type sequence in deletion region: gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : gag (E) 562 E 569 V D soft_tissue KIT 1 c.1687_1716del30 p.I563_D572del length of cdnaseq = 2931 length of protseq = 976 1687 1716 30 30 563 1 572 3 ataaatggaaacaattatgtttacatagac Total no. of codons in cdna seq = 977 ata gac prev g start g-a post c end c-c --- --- No joining codon length of cdnaseq after deletion = 2901 ter codon is tga at posn 967 Protein length after deletion = 966 Total no. of codons in del cdnaseq = 967 last codon in array is tga gag (E) gag (E) ata (I) gac (D) cca (P) aca (T) caa (Q) ctt (L) gag (E) gag (E) cca (P) aca (T) caa (Q) ctt (L) wild type sequence in deletion region: ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) wt inframe deln region length = 10 first wt aa affected by inframe deletion is : ata (I) 563 I 572 D soft_tissue KIT 1 c.1687_1728del42 p.I563_L576del length of cdnaseq = 2931 length of protseq = 976 1687 1728 42 42 563 1 576 3 ataaatggaaacaattatgtttacatagacccaacacaactt Total no. of codons in cdna seq = 977 ata ctt prev g start g-a post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2889 ter codon is tga at posn 963 Protein length after deletion = 962 Total no. of codons in del cdnaseq = 963 last codon in array is tga gag (E) gag (E) ata (I) ctt (L) cct (P) tat (Y) gat (D) cac (H) gag (E) gag (E) cct (P) tat (Y) gat (D) cac (H) wild type sequence in deletion region: ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) aca (T) caa (Q) ctt (L) wt inframe deln region length = 14 first wt aa affected by inframe deletion is : ata (I) 563 I 576 L soft_tissue KIT 1 c.1690_1722del33 p.N564_T574del length of cdnaseq = 2931 length of protseq = 976 1690 1722 33 33 564 1 574 3 aatggaaacaattatgtttacatagacccaaca Total no. of codons in cdna seq = 977 aat aca prev a start a-a post c end a-c --- --- No joining codon length of cdnaseq after deletion = 2898 ter codon is tga at posn 966 Protein length after deletion = 965 Total no. of codons in del cdnaseq = 966 last codon in array is tga gag (E) ata (I) aat (N) aca (T) caa (Q) ctt (L) cct (P) tat (Y) gag (E) ata (I) caa (Q) ctt (L) cct (P) tat (Y) wild type sequence in deletion region: aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) aca (T) wt inframe deln region length = 11 first wt aa affected by inframe deletion is : aat (N) 564 N 574 T soft_tissue KIT 1 c.1690_1728del39 p.N564_L576del length of cdnaseq = 2931 length of protseq = 976 1690 1728 39 39 564 1 576 3 aatggaaacaattatgtttacatagacccaacacaactt Total no. of codons in cdna seq = 977 aat ctt prev a start a-a post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2892 ter codon is tga at posn 964 Protein length after deletion = 963 Total no. of codons in del cdnaseq = 964 last codon in array is tga gag (E) ata (I) aat (N) ctt (L) cct (P) tat (Y) gat (D) cac (H) gag (E) ata (I) cct (P) tat (Y) gat (D) cac (H) wild type sequence in deletion region: aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) aca (T) caa (Q) ctt (L) wt inframe deln region length = 13 first wt aa affected by inframe deletion is : aat (N) 564 N 576 L soft_tissue KIT 1 c.1690_1731del42 p.N564_P577del length of cdnaseq = 2931 length of protseq = 976 1690 1731 42 42 564 1 577 3 aatggaaacaattatgtttacatagacccaacacaacttcct Total no. of codons in cdna seq = 977 aat cct prev a start a-a post t end t-t --- --- No joining codon length of cdnaseq after deletion = 2889 ter codon is tga at posn 963 Protein length after deletion = 962 Total no. of codons in del cdnaseq = 963 last codon in array is tga gag (E) ata (I) aat (N) cct (P) tat (Y) gat (D) cac (H) aaa (K) gag (E) ata (I) tat (Y) gat (D) cac (H) aaa (K) wild type sequence in deletion region: aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) aca (T) caa (Q) ctt (L) cct (P) wt inframe deln region length = 14 first wt aa affected by inframe deletion is : aat (N) 564 N 577 P soft_tissue KIT 1 c.1699_1719del21 p.N567_P573del length of cdnaseq = 2931 length of protseq = 976 1699 1719 21 21 567 1 573 3 aattatgtttacatagaccca Total no. of codons in cdna seq = 977 aat cca prev c start c-a post a end a-a --- --- No joining codon length of cdnaseq after deletion = 2910 ter codon is tga at posn 970 Protein length after deletion = 969 Total no. of codons in del cdnaseq = 970 last codon in array is tga gga (G) aac (N) aat (N) cca (P) aca (T) caa (Q) ctt (L) cct (P) gga (G) aac (N) aca (T) caa (Q) ctt (L) cct (P) wild type sequence in deletion region: aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : aat (N) 567 N 573 P soft_tissue KIT 1 c.1705_1716del12 p.V569_D572del length of cdnaseq = 2931 length of protseq = 976 1705 1716 12 12 569 1 572 3 gtttacatagac Total no. of codons in cdna seq = 977 gtt gac prev t start t-g post c end c-c --- --- No joining codon length of cdnaseq after deletion = 2919 ter codon is tga at posn 973 Protein length after deletion = 972 Total no. of codons in del cdnaseq = 973 last codon in array is tga aat (N) tat (Y) gtt (V) gac (D) cca (P) aca (T) caa (Q) ctt (L) aat (N) tat (Y) cca (P) aca (T) caa (Q) ctt (L) wild type sequence in deletion region: gtt (V) tac (Y) ata (I) gac (D) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : gtt (V) 569 V 572 D soft_tissue KIT 1 c.1705_1725del21 p.V569_Q575del length of cdnaseq = 2931 length of protseq = 976 1705 1725 21 21 569 1 575 3 gtttacatagacccaacacaa Total no. of codons in cdna seq = 977 gtt caa prev t start t-g post c end a-c --- --- No joining codon length of cdnaseq after deletion = 2910 ter codon is tga at posn 970 Protein length after deletion = 969 Total no. of codons in del cdnaseq = 970 last codon in array is tga aat (N) tat (Y) gtt (V) caa (Q) ctt (L) cct (P) tat (Y) gat (D) aat (N) tat (Y) ctt (L) cct (P) tat (Y) gat (D) wild type sequence in deletion region: gtt (V) tac (Y) ata (I) gac (D) cca (P) aca (T) caa (Q) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gtt (V) 569 V 575 Q soft_tissue KIT 1 c.1712_1762del51 p.I571_N587del length of cdnaseq = 2931 length of protseq = 976 1712 1762 51 51 571 2 588 1 tagacccaacacaacttccttatgatcacaaatgggagtttcccagaaaca Total no. of codons in cdna seq = 977 ata agg start a-t end a-g a-- -gg agg (R) length of cdnaseq after deletion = 2880 ter codon is tga at posn 960 Protein length after deletion = 959 Total no. of codons in del cdnaseq = 960 last codon in array is tga gtt (V) tac (Y) ata (I) agg (R) ctg (L) agt (S) ttt (F) ggg (G) gtt (V) tac (Y) agg (R) ctg (L) agt (S) ttt (F) wild type sequence in deletion region: ata (I) gac (D) cca (P) aca (T) caa (Q) ctt (L) cct (P) tat (Y) gat (D) cac (H) aaa (K) tgg (W) gag (E) ttt (F) ccc (P) aga (R) aac (N) agg (R) wt inframe deln region length = 18 first wt aa affected by inframe deletion is : ata (I) 571 I 587 N soft_tissue KIT 1 c.1729_1734delCCTTAT p.P577_Y578del length of cdnaseq = 2931 length of protseq = 976 1729 1734 CCTTAT 6 577 1 578 3 ccttat Total no. of codons in cdna seq = 977 cct tat prev t start t-c post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga caa (Q) ctt (L) cct (P) tat (Y) gat (D) cac (H) aaa (K) tgg (W) caa (Q) ctt (L) gat (D) cac (H) aaa (K) tgg (W) wild type sequence in deletion region: cct (P) tat (Y) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cct (P) 577 P 578 Y soft_tissue KIT 1 c.1737_1739delTCA p.H580del length of cdnaseq = 2931 length of protseq = 976 1737 1739 TCA 3 579 3 580 2 tca Total no. of codons in cdna seq = 977 gat cac start a-t end a-c ga- --c gac (D) length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga cct (P) tat (Y) gat (D) cac (H) aaa (K) tgg (W) gag (E) ttt (F) cct (P) tat (Y) gac (D) aaa (K) tgg (W) gag (E) wild type sequence in deletion region: gat (D) cac (H) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cac (H) 580 H 580 H - soft_tissue KIT 1 c.2110_2115delAAGAAT p.K704_N705del length of cdnaseq = 2931 length of protseq = 976 2110 2115 AAGAAT 6 704 1 705 3 aagaat Total no. of codons in cdna seq = 977 aag aat prev t start t-a post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga ctt (L) tat (Y) aag (K) aat (N) ctt (L) ctg (L) cat (H) tca (S) ctt (L) tat (Y) ctt (L) ctg (L) cat (H) tca (S) wild type sequence in deletion region: aag (K) aat (N) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aag (K) 704 K 705 N testis KIT 1 c.1654_1665del12 p.M552_V555del length of cdnaseq = 2931 length of protseq = 976 1654 1665 12 12 552 1 555 3 atgtatgaagta Total no. of codons in cdna seq = 977 atg gta prev c start c-a post c end a-c --- --- No joining codon length of cdnaseq after deletion = 2919 ter codon is tga at posn 973 Protein length after deletion = 972 Total no. of codons in del cdnaseq = 973 last codon in array is tga aaa (K) ccc (P) atg (M) gta (V) cag (Q) tgg (W) aag (K) gtt (V) aaa (K) ccc (P) cag (Q) tgg (W) aag (K) gtt (V) wild type sequence in deletion region: atg (M) tat (Y) gaa (E) gta (V) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : atg (M) 552 M 555 V testis KIT 1 c.1663_1719del57 p.V555_P573del length of cdnaseq = 2931 length of protseq = 976 1663 1719 57 57 555 1 573 3 gtacagtggaaggttgttgaggagataaatggaaacaattatgtttacatagaccca Total no. of codons in cdna seq = 977 gta cca prev a start a-g post a end a-a --- --- No joining codon length of cdnaseq after deletion = 2874 ter codon is tga at posn 958 Protein length after deletion = 957 Total no. of codons in del cdnaseq = 958 last codon in array is tga tat (Y) gaa (E) gta (V) cca (P) aca (T) caa (Q) ctt (L) cct (P) tat (Y) gaa (E) aca (T) caa (Q) ctt (L) cct (P) wild type sequence in deletion region: gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) wt inframe deln region length = 19 first wt aa affected by inframe deletion is : gta (V) 555 V 573 P soft_tissue KIT 2 c.1648_1677del30 p.K550_V559del length of cdnaseq = 2931 length of protseq = 976 1648 1677 30 30 550 1 559 3 aaacccatgtatgaagtacagtggaaggtt Total no. of codons in cdna seq = 977 aaa gtt prev g start g-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2901 ter codon is tga at posn 967 Protein length after deletion = 966 Total no. of codons in del cdnaseq = 967 last codon in array is tga tta (L) cag (Q) aaa (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) tta (L) cag (Q) gtt (V) gag (E) gag (E) ata (I) wild type sequence in deletion region: aaa (K) ccc (P) atg (M) tat (Y) gaa (E) gta (V) cag (Q) tgg (W) aag (K) gtt (V) wt inframe deln region length = 10 first wt aa affected by inframe deletion is : aaa (K) 550 K 559 V soft_tissue KIT 2 c.1651_1668del18 p.P551_Q556del length of cdnaseq = 2931 length of protseq = 976 1651 1668 18 18 551 1 556 3 cccatgtatgaagtacag Total no. of codons in cdna seq = 977 ccc cag prev a start a-c post t end g-t --- --- No joining codon length of cdnaseq after deletion = 2913 ter codon is tga at posn 971 Protein length after deletion = 970 Total no. of codons in del cdnaseq = 971 last codon in array is tga cag (Q) aaa (K) ccc (P) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) cag (Q) aaa (K) tgg (W) aag (K) gtt (V) gtt (V) wild type sequence in deletion region: ccc (P) atg (M) tat (Y) gaa (E) gta (V) cag (Q) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : ccc (P) 551 P 556 Q soft_tissue KIT 2 c.1654_1662del9 p.M552_E554del length of cdnaseq = 2931 length of protseq = 976 1654 1662 9 9 552 1 554 3 atgtatgaa Total no. of codons in cdna seq = 977 atg gaa prev c start c-a post g end a-g --- --- No joining codon length of cdnaseq after deletion = 2922 ter codon is tga at posn 974 Protein length after deletion = 973 Total no. of codons in del cdnaseq = 974 last codon in array is tga aaa (K) ccc (P) atg (M) gaa (E) gta (V) cag (Q) tgg (W) aag (K) aaa (K) ccc (P) gta (V) cag (Q) tgg (W) aag (K) wild type sequence in deletion region: atg (M) tat (Y) gaa (E) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : atg (M) 552 M 554 E soft_tissue KIT 2 c.1656_1670del15 p.Y553_W557del length of cdnaseq = 2931 length of protseq = 976 1656 1670 15 15 552 3 557 2 gtatgaagtacagtg Total no. of codons in cdna seq = 977 atg tgg start t-g end g-g at- --g atg (M) length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga aaa (K) ccc (P) atg (M) tgg (W) aag (K) gtt (V) gtt (V) gag (E) aaa (K) ccc (P) atg (M) aag (K) gtt (V) gtt (V) wild type sequence in deletion region: atg (M) tat (Y) gaa (E) gta (V) cag (Q) tgg (W) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : tat (Y) 553 Y 557 W soft_tissue KIT 2 c.1662_1685del24 p.V555_E562del length of cdnaseq = 2931 length of protseq = 976 1662 1685 24 24 554 3 562 2 agtacagtggaaggttgttgagga Total no. of codons in cdna seq = 977 gaa gag start a-a end a-g ga- --g gag (E) length of cdnaseq after deletion = 2907 ter codon is tga at posn 969 Protein length after deletion = 968 Total no. of codons in del cdnaseq = 969 last codon in array is tga atg (M) tat (Y) gaa (E) gag (E) ata (I) aat (N) gga (G) aac (N) atg (M) tat (Y) gag (E) ata (I) aat (N) gga (G) wild type sequence in deletion region: gaa (E) gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : gta (V) 555 V 562 E soft_tissue KIT 2 c.1663_1674del12 p.V555_K558del length of cdnaseq = 2931 length of protseq = 976 1663 1674 12 12 555 1 558 3 gtacagtggaag Total no. of codons in cdna seq = 977 gta aag prev a start a-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2919 ter codon is tga at posn 973 Protein length after deletion = 972 Total no. of codons in del cdnaseq = 973 last codon in array is tga tat (Y) gaa (E) gta (V) aag (K) gtt (V) gtt (V) gag (E) gag (E) tat (Y) gaa (E) gtt (V) gtt (V) gag (E) gag (E) wild type sequence in deletion region: gta (V) cag (Q) tgg (W) aag (K) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : cag (Q) 555 V 558 K Q V 2 soft_tissue KIT c.1663_1674del12 p.V555_K558del soft_tissue KIT 2 c.1666_1680del15 p.Q556_V560del length of cdnaseq = 2931 length of protseq = 976 1666 1680 15 15 556 1 560 3 cagtggaaggttgtt Total no. of codons in cdna seq = 977 cag gtt prev a start a-c post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga gaa (E) gta (V) cag (Q) gtt (V) gag (E) gag (E) ata (I) aat (N) gaa (E) gta (V) gag (E) gag (E) ata (I) aat (N) wild type sequence in deletion region: cag (Q) tgg (W) aag (K) gtt (V) gtt (V) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : cag (Q) 556 Q 560 V soft_tissue KIT 2 c.1667_1681del15 p.W557_E561del length of cdnaseq = 2931 length of protseq = 976 1667 1681 15 15 556 2 561 1 agtggaaggttgttg Total no. of codons in cdna seq = 977 cag gag start c-a end g-a c-- -ag cag (Q) length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga gaa (E) gta (V) cag (Q) gag (E) gag (E) ata (I) aat (N) gga (G) gaa (E) gta (V) cag (Q) gag (E) ata (I) aat (N) wild type sequence in deletion region: cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : tgg (W) 557 W 561 E soft_tissue KIT 2 c.1669_1671delTGG p.W557del length of cdnaseq = 2931 length of protseq = 976 1669 1671 TGG 3 557 1 557 3 tgg Total no. of codons in cdna seq = 977 tgg tgg prev g start g-t post a end g-a --- --- No joining codon length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga gta (V) cag (Q) tgg (W) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gta (V) cag (Q) aag (K) gtt (V) gtt (V) gag (E) wild type sequence in deletion region: tgg (W) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tgg (W) 557 W 557 W - soft_tissue KIT 2 c.1669_1680del12 p.W557_V560del length of cdnaseq = 2931 length of protseq = 976 1669 1680 12 12 557 1 560 3 tggaaggttgtt Total no. of codons in cdna seq = 977 tgg gtt prev g start g-t post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2919 ter codon is tga at posn 973 Protein length after deletion = 972 Total no. of codons in del cdnaseq = 973 last codon in array is tga gta (V) cag (Q) tgg (W) gtt (V) gag (E) gag (E) ata (I) aat (N) gta (V) cag (Q) gag (E) gag (E) ata (I) aat (N) wild type sequence in deletion region: tgg (W) aag (K) gtt (V) gtt (V) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : tgg (W) 557 W 560 V soft_tissue KIT 2 c.1670_1717del48 p.W557_P573>S length of cdnaseq = 2931 length of protseq = 976 1670 1717 48 48 557 2 573 1 ggaaggttgttgaggagataaatggaaacaattatgtttacatagacc Total no. of codons in cdna seq = 977 tgg cca start t-g end c-c t-- -ca tca (S) length of cdnaseq after deletion = 2883 ter codon is tga at posn 961 Protein length after deletion = 960 Total no. of codons in del cdnaseq = 961 last codon in array is tga gta (V) cag (Q) tgg (W) cca (P) aca (T) caa (Q) ctt (L) cct (P) gta (V) cag (Q) tca (S) aca (T) caa (Q) ctt (L) wild type sequence in deletion region: tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) wt inframe deln region length = 17 first wt aa affected by inframe deletion is : tgg (W) 557 W 573 P S soft_tissue KIT 2 c.1672_1677delAAGGTT p.K558_V559del length of cdnaseq = 2931 length of protseq = 976 1672 1677 AAGGTT 6 558 1 559 3 aaggtt Total no. of codons in cdna seq = 977 aag gtt prev g start g-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) cag (Q) tgg (W) gtt (V) gag (E) gag (E) ata (I) wild type sequence in deletion region: aag (K) gtt (V) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aag (K) 558 K 559 V soft_tissue KIT 2 c.1672_1692del21 p.K558_N564del length of cdnaseq = 2931 length of protseq = 976 1672 1692 21 21 558 1 564 3 aaggttgttgaggagataaat Total no. of codons in cdna seq = 977 aag aat prev g start g-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2910 ter codon is tga at posn 970 Protein length after deletion = 969 Total no. of codons in del cdnaseq = 970 last codon in array is tga cag (Q) tgg (W) aag (K) aat (N) gga (G) aac (N) aat (N) tat (Y) cag (Q) tgg (W) gga (G) aac (N) aat (N) tat (Y) wild type sequence in deletion region: aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : aag (K) 558 K 564 N soft_tissue KIT 2 c.1673_1678delAGGTTG p.K558_V560>I length of cdnaseq = 2931 length of protseq = 976 1673 1678 AGGTTG 6 558 2 560 1 aggttg Total no. of codons in cdna seq = 977 aag gtt start a-a end g-t a-- -tt att (I) length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga cag (Q) tgg (W) aag (K) gtt (V) gag (E) gag (E) ata (I) aat (N) cag (Q) tgg (W) att (I) gag (E) gag (E) ata (I) wild type sequence in deletion region: aag (K) gtt (V) gtt (V) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : aag (K) 558 K 560 V I soft_tissue KIT 2 c.1675_1695del21 p.V559_G565del length of cdnaseq = 2931 length of protseq = 976 1675 1695 21 21 559 1 565 3 gttgttgaggagataaatgga Total no. of codons in cdna seq = 977 gtt gga prev g start g-g post a end a-a --- --- No joining codon length of cdnaseq after deletion = 2910 ter codon is tga at posn 970 Protein length after deletion = 969 Total no. of codons in del cdnaseq = 970 last codon in array is tga tgg (W) aag (K) gtt (V) gga (G) aac (N) aat (N) tat (Y) gtt (V) tgg (W) aag (K) aac (N) aat (N) tat (Y) gtt (V) wild type sequence in deletion region: gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gtt (V) 559 V 565 G soft_tissue KIT 2 c.1679_1681delTTG p.V560del length of cdnaseq = 2931 length of protseq = 976 1679 1681 TTG 3 560 2 561 1 ttg Total no. of codons in cdna seq = 977 gtt gag start g-t end g-a g-- -ag gag (E) length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aag (K) gtt (V) gag (E) gag (E) ata (I) aat (N) wild type sequence in deletion region: gtt (V) gag (E) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gtt (V) 560 V 560 V - soft_tissue KIT 2 c.1690_1734del45 p.N564_Y578del length of cdnaseq = 2931 length of protseq = 976 1690 1734 45 45 564 1 578 3 aatggaaacaattatgtttacatagacccaacacaacttccttat Total no. of codons in cdna seq = 977 aat tat prev a start a-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2886 ter codon is tga at posn 962 Protein length after deletion = 961 Total no. of codons in del cdnaseq = 962 last codon in array is tga gag (E) ata (I) aat (N) tat (Y) gat (D) cac (H) aaa (K) tgg (W) gag (E) ata (I) gat (D) cac (H) aaa (K) tgg (W) wild type sequence in deletion region: aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) aca (T) caa (Q) ctt (L) cct (P) tat (Y) wt inframe deln region length = 15 first wt aa affected by inframe deletion is : aat (N) 564 N 578 Y soft_tissue KIT 2 c.1702_1722del21 p.Y568_T574del length of cdnaseq = 2931 length of protseq = 976 1702 1722 21 21 568 1 574 3 tatgtttacatagacccaaca Total no. of codons in cdna seq = 977 tat aca prev t start t-t post c end a-c --- --- No joining codon length of cdnaseq after deletion = 2910 ter codon is tga at posn 970 Protein length after deletion = 969 Total no. of codons in del cdnaseq = 970 last codon in array is tga aac (N) aat (N) tat (Y) aca (T) caa (Q) ctt (L) cct (P) tat (Y) aac (N) aat (N) caa (Q) ctt (L) cct (P) tat (Y) wild type sequence in deletion region: tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) aca (T) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : tat (Y) 568 Y 574 T soft_tissue KIT 2 c.1726_1728delCTT p.L576del length of cdnaseq = 2931 length of protseq = 976 1726 1728 CTT 3 576 1 576 3 ctt Total no. of codons in cdna seq = 977 ctt ctt prev a start a-c post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga aca (T) caa (Q) ctt (L) ctt (L) cct (P) tat (Y) gat (D) cac (H) aca (T) caa (Q) cct (P) tat (Y) gat (D) cac (H) wild type sequence in deletion region: ctt (L) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : ctt (L) 576 L 576 L - soft_tissue KIT 3 c.1648_1662del15 p.K550_E554del length of cdnaseq = 2931 length of protseq = 976 1648 1662 15 15 550 1 554 3 aaacccatgtatgaa Total no. of codons in cdna seq = 977 aaa gaa prev g start g-a post g end a-g --- --- No joining codon length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga tta (L) cag (Q) aaa (K) gaa (E) gta (V) cag (Q) tgg (W) aag (K) tta (L) cag (Q) gta (V) cag (Q) tgg (W) aag (K) wild type sequence in deletion region: aaa (K) ccc (P) atg (M) tat (Y) gaa (E) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : aaa (K) 550 K 554 E soft_tissue KIT 3 c.1654_1659delATGTAT p.M552_Y553del length of cdnaseq = 2931 length of protseq = 976 1654 1659 ATGTAT 6 552 1 553 3 atgtat Total no. of codons in cdna seq = 977 atg tat prev c start c-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga aaa (K) ccc (P) atg (M) tat (Y) gaa (E) gta (V) cag (Q) tgg (W) aaa (K) ccc (P) gaa (E) gta (V) cag (Q) tgg (W) wild type sequence in deletion region: atg (M) tat (Y) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : atg (M) 552 M 553 Y soft_tissue KIT 3 c.1655_1672del18 p.M552_W557del length of cdnaseq = 2931 length of protseq = 976 1655 1672 18 18 552 2 558 1 tgtatgaagtacagtgga Total no. of codons in cdna seq = 977 atg aag start a-t end a-a a-- -ag aag (K) length of cdnaseq after deletion = 2913 ter codon is tga at posn 971 Protein length after deletion = 970 Total no. of codons in del cdnaseq = 971 last codon in array is tga aaa (K) ccc (P) atg (M) aag (K) gtt (V) gtt (V) gag (E) gag (E) aaa (K) ccc (P) aag (K) gtt (V) gtt (V) gag (E) wild type sequence in deletion region: atg (M) tat (Y) gaa (E) gta (V) cag (Q) tgg (W) aag (K) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : atg (M) 552 M 557 W soft_tissue KIT 3 c.1657_1674del18 p.Y553_K558del length of cdnaseq = 2931 length of protseq = 976 1657 1674 18 18 553 1 558 3 tatgaagtacagtggaag Total no. of codons in cdna seq = 977 tat aag prev g start g-t post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2913 ter codon is tga at posn 971 Protein length after deletion = 970 Total no. of codons in del cdnaseq = 971 last codon in array is tga ccc (P) atg (M) tat (Y) aag (K) gtt (V) gtt (V) gag (E) gag (E) ccc (P) atg (M) gtt (V) gtt (V) gag (E) gag (E) wild type sequence in deletion region: tat (Y) gaa (E) gta (V) cag (Q) tgg (W) aag (K) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : tat (Y) 553 Y 558 K soft_tissue KIT 3 c.1658_1720del63 p.Y553_T574>S length of cdnaseq = 2931 length of protseq = 976 1658 1720 63 63 553 2 574 1 atgaagtacagtggaaggttgttgaggagataaatggaaacaattatgtttacatagacccaa Total no. of codons in cdna seq = 977 tat aca start t-a end a-c t-- -ca tca (S) length of cdnaseq after deletion = 2868 ter codon is tga at posn 956 Protein length after deletion = 955 Total no. of codons in del cdnaseq = 956 last codon in array is tga ccc (P) atg (M) tat (Y) aca (T) caa (Q) ctt (L) cct (P) tat (Y) ccc (P) atg (M) tca (S) caa (Q) ctt (L) cct (P) wild type sequence in deletion region: tat (Y) gaa (E) gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) gac (D) cca (P) aca (T) wt inframe deln region length = 22 first wt aa affected by inframe deletion is : tat (Y) 553 Y 574 T S soft_tissue KIT 3 c.1660_1674del15 p.E554_K558del length of cdnaseq = 2931 length of protseq = 976 1660 1674 15 15 554 1 558 3 gaagtacagtggaag Total no. of codons in cdna seq = 977 gaa aag prev t start t-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga atg (M) tat (Y) gaa (E) aag (K) gtt (V) gtt (V) gag (E) gag (E) atg (M) tat (Y) gtt (V) gtt (V) gag (E) gag (E) wild type sequence in deletion region: gaa (E) gta (V) cag (Q) tgg (W) aag (K) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : gaa (E) 554 E 558 K soft_tissue KIT 3 c.1661_1675del15 p.E554_K558del length of cdnaseq = 2931 length of protseq = 976 1661 1675 15 15 554 2 559 1 aagtacagtggaagg Total no. of codons in cdna seq = 977 gaa gtt start g-a end g-t g-- -tt gtt (V) length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga atg (M) tat (Y) gaa (E) gtt (V) gtt (V) gag (E) gag (E) ata (I) atg (M) tat (Y) gtt (V) gtt (V) gag (E) gag (E) wild type sequence in deletion region: gaa (E) gta (V) cag (Q) tgg (W) aag (K) gtt (V) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gaa (E) 554 E 558 K soft_tissue KIT 3 c.1663_1677del15 p.V555_V559del length of cdnaseq = 2931 length of protseq = 976 1663 1677 15 15 555 1 559 3 gtacagtggaaggtt Total no. of codons in cdna seq = 977 gta gtt prev a start a-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga tat (Y) gaa (E) gta (V) gtt (V) gtt (V) gag (E) gag (E) ata (I) tat (Y) gaa (E) gtt (V) gag (E) gag (E) ata (I) wild type sequence in deletion region: gta (V) cag (Q) tgg (W) aag (K) gtt (V) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : cag (Q) 555 V 559 V Q V 3 soft_tissue KIT c.1663_1677del15 p.V555_V559del soft_tissue KIT 3 c.1663_1680del18 p.V555_V560del length of cdnaseq = 2931 length of protseq = 976 1663 1680 18 18 555 1 560 3 gtacagtggaaggttgtt Total no. of codons in cdna seq = 977 gta gtt prev a start a-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2913 ter codon is tga at posn 971 Protein length after deletion = 970 Total no. of codons in del cdnaseq = 971 last codon in array is tga tat (Y) gaa (E) gta (V) gtt (V) gag (E) gag (E) ata (I) aat (N) tat (Y) gaa (E) gag (E) gag (E) ata (I) aat (N) wild type sequence in deletion region: gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gta (V) 555 V 560 V soft_tissue KIT 3 c.1663_1713del51 p.V555_I571del length of cdnaseq = 2931 length of protseq = 976 1663 1713 51 51 555 1 571 3 gtacagtggaaggttgttgaggagataaatggaaacaattatgtttacata Total no. of codons in cdna seq = 977 gta ata prev a start a-g post g end a-g --- --- No joining codon length of cdnaseq after deletion = 2880 ter codon is tga at posn 960 Protein length after deletion = 959 Total no. of codons in del cdnaseq = 960 last codon in array is tga tat (Y) gaa (E) gta (V) ata (I) gac (D) cca (P) aca (T) caa (Q) tat (Y) gaa (E) gac (D) cca (P) aca (T) caa (Q) wild type sequence in deletion region: gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) aac (N) aat (N) tat (Y) gtt (V) tac (Y) ata (I) wt inframe deln region length = 17 first wt aa affected by inframe deletion is : gta (V) 555 V 571 I soft_tissue KIT 3 c.1668_1673delGTGGAA p.W557_K558del length of cdnaseq = 2931 length of protseq = 976 1668 1673 GTGGAA 6 556 3 558 2 gtggaa Total no. of codons in cdna seq = 977 cag aag start a-g end a-g ca- --g cag (Q) length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga gaa (E) gta (V) cag (Q) aag (K) gtt (V) gtt (V) gag (E) gag (E) gaa (E) gta (V) cag (Q) gtt (V) gtt (V) gag (E) wild type sequence in deletion region: cag (Q) tgg (W) aag (K) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : tgg (W) 557 W 558 K soft_tissue KIT 3 c.1668_1679del12 p.Q556_V560>H length of cdnaseq = 2931 length of protseq = 976 1668 1679 12 12 556 3 560 2 gtggaaggttgt Total no. of codons in cdna seq = 977 cag gtt start a-g end t-t ca- --t cat (H) length of cdnaseq after deletion = 2919 ter codon is tga at posn 973 Protein length after deletion = 972 Total no. of codons in del cdnaseq = 973 last codon in array is tga gaa (E) gta (V) cag (Q) gtt (V) gag (E) gag (E) ata (I) aat (N) gaa (E) gta (V) cat (H) gag (E) gag (E) ata (I) wild type sequence in deletion region: cag (Q) tgg (W) aag (K) gtt (V) gtt (V) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : cag (Q) 556 Q 560 V H soft_tissue KIT 3 c.1671_1679del9 p.W557_V560>C length of cdnaseq = 2931 length of protseq = 976 1671 1679 9 9 557 3 560 2 gaaggttgt Total no. of codons in cdna seq = 977 tgg gtt start g-g end t-t tg- --t tgt (C) length of cdnaseq after deletion = 2922 ter codon is tga at posn 974 Protein length after deletion = 973 Total no. of codons in del cdnaseq = 974 last codon in array is tga gta (V) cag (Q) tgg (W) gtt (V) gag (E) gag (E) ata (I) aat (N) gta (V) cag (Q) tgt (C) gag (E) gag (E) ata (I) wild type sequence in deletion region: tgg (W) aag (K) gtt (V) gtt (V) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : tgg (W) 557 W 560 V C soft_tissue KIT 3 c.1672_1686del15 p.K558_E562del length of cdnaseq = 2931 length of protseq = 976 1672 1686 15 15 558 1 562 3 aaggttgttgaggag Total no. of codons in cdna seq = 977 aag gag prev g start g-a post a end g-a --- --- No joining codon length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga cag (Q) tgg (W) aag (K) gag (E) ata (I) aat (N) gga (G) aac (N) cag (Q) tgg (W) ata (I) aat (N) gga (G) aac (N) wild type sequence in deletion region: aag (K) gtt (V) gtt (V) gag (E) gag (E) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : aag (K) 558 K 562 E soft_tissue KIT 4 c.1651_1662del12 p.P551_E554del length of cdnaseq = 2931 length of protseq = 976 1651 1662 12 12 551 1 554 3 cccatgtatgaa Total no. of codons in cdna seq = 977 ccc gaa prev a start a-c post g end a-g --- --- No joining codon length of cdnaseq after deletion = 2919 ter codon is tga at posn 973 Protein length after deletion = 972 Total no. of codons in del cdnaseq = 973 last codon in array is tga cag (Q) aaa (K) ccc (P) gaa (E) gta (V) cag (Q) tgg (W) aag (K) cag (Q) aaa (K) gta (V) cag (Q) tgg (W) aag (K) wild type sequence in deletion region: ccc (P) atg (M) tat (Y) gaa (E) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : ccc (P) 551 P 554 E soft_tissue KIT 4 c.1657_1668del12 p.Y553_Q556del length of cdnaseq = 2931 length of protseq = 976 1657 1668 12 12 553 1 556 3 tatgaagtacag Total no. of codons in cdna seq = 977 tat cag prev g start g-t post t end g-t --- --- No joining codon length of cdnaseq after deletion = 2919 ter codon is tga at posn 973 Protein length after deletion = 972 Total no. of codons in del cdnaseq = 973 last codon in array is tga ccc (P) atg (M) tat (Y) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) ccc (P) atg (M) tgg (W) aag (K) gtt (V) gtt (V) wild type sequence in deletion region: tat (Y) gaa (E) gta (V) cag (Q) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : tat (Y) 553 Y 556 Q soft_tissue KIT 4 c.1672_1680del9 p.K558_V560del length of cdnaseq = 2931 length of protseq = 976 1672 1680 9 9 558 1 560 3 aaggttgtt Total no. of codons in cdna seq = 977 aag gtt prev g start g-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2922 ter codon is tga at posn 974 Protein length after deletion = 973 Total no. of codons in del cdnaseq = 974 last codon in array is tga cag (Q) tgg (W) aag (K) gtt (V) gag (E) gag (E) ata (I) aat (N) cag (Q) tgg (W) gag (E) gag (E) ata (I) aat (N) wild type sequence in deletion region: aag (K) gtt (V) gtt (V) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : aag (K) 558 K 560 V soft_tissue KIT 4 c.1673_1687del15 p.K558_E562del length of cdnaseq = 2931 length of protseq = 976 1673 1687 15 15 558 2 563 1 aggttgttgaggaga Total no. of codons in cdna seq = 977 aag ata start a-a end a-t a-- -ta ata (I) length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga cag (Q) tgg (W) aag (K) ata (I) aat (N) gga (G) aac (N) aat (N) cag (Q) tgg (W) ata (I) aat (N) gga (G) aac (N) wild type sequence in deletion region: aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : aag (K) 558 K 562 E soft_tissue KIT 4 c.1675_1683del9 p.V559_E561del length of cdnaseq = 2931 length of protseq = 976 1675 1683 9 9 559 1 561 3 gttgttgag Total no. of codons in cdna seq = 977 gtt gag prev g start g-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2922 ter codon is tga at posn 974 Protein length after deletion = 973 Total no. of codons in del cdnaseq = 974 last codon in array is tga tgg (W) aag (K) gtt (V) gag (E) gag (E) ata (I) aat (N) gga (G) tgg (W) aag (K) gag (E) ata (I) aat (N) gga (G) wild type sequence in deletion region: gtt (V) gtt (V) gag (E) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : gtt (V) 559 V 561 E haematopoietic_and_lymphoid_tissue KIT 5 c.1255_1257delGAC p.D419del length of cdnaseq = 2931 length of protseq = 976 1255 1257 GAC 3 419 1 419 3 gac Total no. of codons in cdna seq = 977 gac gac prev c start c-g post a end c-a --- --- No joining codon length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga act (T) tac (Y) gac (D) gac (D) agg (R) ctc (L) gtg (V) aat (N) act (T) tac (Y) agg (R) ctc (L) gtg (V) aat (N) wild type sequence in deletion region: gac (D) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gac (D) 419 D 419 D - soft_tissue KIT 5 c.1648_1665del18 p.K550_V555del length of cdnaseq = 2931 length of protseq = 976 1648 1665 18 18 550 1 555 3 aaacccatgtatgaagta Total no. of codons in cdna seq = 977 aaa gta prev g start g-a post c end a-c --- --- No joining codon length of cdnaseq after deletion = 2913 ter codon is tga at posn 971 Protein length after deletion = 970 Total no. of codons in del cdnaseq = 971 last codon in array is tga tta (L) cag (Q) aaa (K) gta (V) cag (Q) tgg (W) aag (K) gtt (V) tta (L) cag (Q) cag (Q) tgg (W) aag (K) gtt (V) wild type sequence in deletion region: aaa (K) ccc (P) atg (M) tat (Y) gaa (E) gta (V) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : aaa (K) 550 K 555 V soft_tissue KIT 5 c.1648_1674del27 p.K550_K558del length of cdnaseq = 2931 length of protseq = 976 1648 1674 27 27 550 1 558 3 aaacccatgtatgaagtacagtggaag Total no. of codons in cdna seq = 977 aaa aag prev g start g-a post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2904 ter codon is tga at posn 968 Protein length after deletion = 967 Total no. of codons in del cdnaseq = 968 last codon in array is tga tta (L) cag (Q) aaa (K) aag (K) gtt (V) gtt (V) gag (E) gag (E) tta (L) cag (Q) gtt (V) gtt (V) gag (E) gag (E) wild type sequence in deletion region: aaa (K) ccc (P) atg (M) tat (Y) gaa (E) gta (V) cag (Q) tgg (W) aag (K) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : aaa (K) 550 K 558 K soft_tissue KIT 5 c.1652_1654delCCA p.P551_M552>L length of cdnaseq = 2931 length of protseq = 976 1652 1654 CCA 3 551 2 552 1 cca Total no. of codons in cdna seq = 977 ccc atg start c-c end a-t c-- -tg ctg (L) length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga cag (Q) aaa (K) ccc (P) atg (M) tat (Y) gaa (E) gta (V) cag (Q) cag (Q) aaa (K) ctg (L) tat (Y) gaa (E) gta (V) wild type sequence in deletion region: ccc (P) atg (M) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ccc (P) 551 P 552 M L soft_tissue KIT 5 c.1671_1676delGAAGGT p.W557_V559>C length of cdnaseq = 2931 length of protseq = 976 1671 1676 GAAGGT 6 557 3 559 2 gaaggt Total no. of codons in cdna seq = 977 tgg gtt start g-g end t-t tg- --t tgt (C) length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga gta (V) cag (Q) tgg (W) gtt (V) gtt (V) gag (E) gag (E) ata (I) gta (V) cag (Q) tgt (C) gtt (V) gag (E) gag (E) wild type sequence in deletion region: tgg (W) aag (K) gtt (V) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : tgg (W) 557 W 559 V C soft_tissue KIT 5 c.1675_1680delGTTGTT p.V559_V560del length of cdnaseq = 2931 length of protseq = 976 1675 1680 GTTGTT 6 559 1 560 3 gttgtt Total no. of codons in cdna seq = 977 gtt gtt prev g start g-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) tgg (W) aag (K) gag (E) gag (E) ata (I) aat (N) wild type sequence in deletion region: gtt (V) gtt (V) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gtt (V) 559 V 560 V soft_tissue KIT 6 c.1669_1677del9 p.W557_V559del length of cdnaseq = 2931 length of protseq = 976 1669 1677 9 9 557 1 559 3 tggaaggtt Total no. of codons in cdna seq = 977 tgg gtt prev g start g-t post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2922 ter codon is tga at posn 974 Protein length after deletion = 973 Total no. of codons in del cdnaseq = 974 last codon in array is tga gta (V) cag (Q) tgg (W) gtt (V) gtt (V) gag (E) gag (E) ata (I) gta (V) cag (Q) gtt (V) gag (E) gag (E) ata (I) wild type sequence in deletion region: tgg (W) aag (K) gtt (V) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : tgg (W) 557 W 559 V soft_tissue KIT 6 c.1708_1728del21 p.Y570_L576del length of cdnaseq = 2931 length of protseq = 976 1708 1728 21 21 570 1 576 3 tacatagacccaacacaactt Total no. of codons in cdna seq = 977 tac ctt prev t start t-t post c end t-c --- --- No joining codon length of cdnaseq after deletion = 2910 ter codon is tga at posn 970 Protein length after deletion = 969 Total no. of codons in del cdnaseq = 970 last codon in array is tga tat (Y) gtt (V) tac (Y) ctt (L) cct (P) tat (Y) gat (D) cac (H) tat (Y) gtt (V) cct (P) tat (Y) gat (D) cac (H) wild type sequence in deletion region: tac (Y) ata (I) gac (D) cca (P) aca (T) caa (Q) ctt (L) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : tac (Y) 570 Y 576 L soft_tissue KIT 7 c.1651_1665del15 p.P551_V555del length of cdnaseq = 2931 length of protseq = 976 1651 1665 15 15 551 1 555 3 cccatgtatgaagta Total no. of codons in cdna seq = 977 ccc gta prev a start a-c post c end a-c --- --- No joining codon length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga cag (Q) aaa (K) ccc (P) gta (V) cag (Q) tgg (W) aag (K) gtt (V) cag (Q) aaa (K) cag (Q) tgg (W) aag (K) gtt (V) wild type sequence in deletion region: ccc (P) atg (M) tat (Y) gaa (E) gta (V) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : ccc (P) 551 P 555 V soft_tissue KIT 7 c.2143_2145delAGC p.S715del length of cdnaseq = 2931 length of protseq = 976 2143 2145 AGC 3 715 1 715 3 agc Total no. of codons in cdna seq = 977 agc agc prev c start c-a post g end c-g --- --- No joining codon length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga tcc (S) tgc (C) agc (S) agc (S) gat (D) agt (S) act (T) aat (N) tcc (S) tgc (C) gat (D) agt (S) act (T) aat (N) wild type sequence in deletion region: agc (S) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : agc (S) 715 S 715 S - soft_tissue KIT 85 c.1669_1674delTGGAAG p.W557_K558del length of cdnaseq = 2931 length of protseq = 976 1669 1674 TGGAAG 6 557 1 558 3 tggaag Total no. of codons in cdna seq = 977 tgg aag prev g start g-t post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga gta (V) cag (Q) tgg (W) aag (K) gtt (V) gtt (V) gag (E) gag (E) gta (V) cag (Q) gtt (V) gtt (V) gag (E) gag (E) wild type sequence in deletion region: tgg (W) aag (K) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : tgg (W) 557 W 558 K soft_tissue KIT 8 c.1656_1673del18 p.Y553_K558> length of cdnaseq = 2931 length of protseq = 976 1656 1673 18 18 552 3 558 2 gtatgaagtacagtggaa Total no. of codons in cdna seq = 977 atg aag start t-g end a-g at- --g atg (M) length of cdnaseq after deletion = 2913 ter codon is tga at posn 971 Protein length after deletion = 970 Total no. of codons in del cdnaseq = 971 last codon in array is tga aaa (K) ccc (P) atg (M) aag (K) gtt (V) gtt (V) gag (E) gag (E) aaa (K) ccc (P) atg (M) gtt (V) gtt (V) gag (E) wild type sequence in deletion region: atg (M) tat (Y) gaa (E) gta (V) cag (Q) tgg (W) aag (K) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : tat (Y) 553 Y 558 K > soft_tissue KIT 8 c.1667_1672delAGTGGA p.W557_K558del length of cdnaseq = 2931 length of protseq = 976 1667 1672 AGTGGA 6 556 2 558 1 agtgga Total no. of codons in cdna seq = 977 cag aag start c-a end a-a c-- -ag cag (Q) length of cdnaseq after deletion = 2925 ter codon is tga at posn 975 Protein length after deletion = 974 Total no. of codons in del cdnaseq = 975 last codon in array is tga gaa (E) gta (V) cag (Q) aag (K) gtt (V) gtt (V) gag (E) gag (E) gaa (E) gta (V) cag (Q) gtt (V) gtt (V) gag (E) wild type sequence in deletion region: cag (Q) tgg (W) aag (K) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : tgg (W) 557 W 558 K soft_tissue KIT 8 c.1678_1680delGTT p.V560del length of cdnaseq = 2931 length of protseq = 976 1678 1680 GTT 3 560 1 560 3 gtt Total no. of codons in cdna seq = 977 gtt gtt prev t start t-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 2928 ter codon is tga at posn 976 Protein length after deletion = 975 Total no. of codons in del cdnaseq = 976 last codon in array is tga aag (K) gtt (V) gtt (V) gtt (V) gag (E) gag (E) ata (I) aat (N) aag (K) gtt (V) gag (E) gag (E) ata (I) aat (N) wild type sequence in deletion region: gtt (V) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gtt (V) 560 V 560 V - soft_tissue KIT 9 c.1669_1683del15 p.W557_E561del length of cdnaseq = 2931 length of protseq = 976 1669 1683 15 15 557 1 561 3 tggaaggttgttgag Total no. of codons in cdna seq = 977 tgg gag prev g start g-t post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2916 ter codon is tga at posn 972 Protein length after deletion = 971 Total no. of codons in del cdnaseq = 972 last codon in array is tga gta (V) cag (Q) tgg (W) gag (E) gag (E) ata (I) aat (N) gga (G) gta (V) cag (Q) gag (E) ata (I) aat (N) gga (G) wild type sequence in deletion region: tgg (W) aag (K) gtt (V) gtt (V) gag (E) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : tgg (W) 557 W 561 E large_intestine KRAS 1 c.187_189delGAG p.E63del length of cdnaseq = 567 length of protseq = 188 187 189 GAG 3 63 1 63 3 gag Total no. of codons in cdna seq = 189 gag gag prev g start g-g post t end g-t --- --- No joining codon length of cdnaseq after deletion = 564 ter codon is taa at posn 188 Protein length after deletion = 187 Total no. of codons in del cdnaseq = 188 last codon in array is taa caa (Q) gag (E) gag (E) gag (E) tac (Y) agt (S) gca (A) atg (M) caa (Q) gag (E) tac (Y) agt (S) gca (A) atg (M) wild type sequence in deletion region: gag (E) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gag (E) 63 E 63 E - gastrointestinal_tract_site_indeterminate MEN1 1 c.1623_1652del30 p.A542_L551del length of cdnaseq = 1833 length of protseq = 610 1623 1652 30 30 541 3 551 2 agcatcaccaccgccggagggtccagtgct Total no. of codons in cdna seq = 611 aca ctc start c-a end t-c ac- --c acc (T) length of cdnaseq after deletion = 1803 ter codon is tga at posn 601 Protein length after deletion = 600 Total no. of codons in del cdnaseq = 601 last codon in array is tga gca (A) ccc (P) aca (T) ctc (L) act (T) ttc (F) cag (Q) agt (S) gca (A) ccc (P) acc (T) act (T) ttc (F) cag (Q) wild type sequence in deletion region: aca (T) gca (A) tca (S) cca (P) ccg (P) ccg (P) gag (E) ggt (G) cca (P) gtg (V) ctc (L) wt inframe deln region length = 11 first wt aa affected by inframe deletion is : gca (A) 542 A 551 L gastrointestinal_tract_site_indeterminate MEN1 1 c.354_356delGAA p.K119del length of cdnaseq = 1833 length of protseq = 610 354 356 GAA 3 118 3 119 2 gaa Total no. of codons in cdna seq = 611 gtg aag start t-g end a-g gt- --g gtg (V) length of cdnaseq after deletion = 1830 ter codon is tga at posn 610 Protein length after deletion = 609 Total no. of codons in del cdnaseq = 610 last codon in array is tga gag (E) ctg (L) gtg (V) aag (K) aag (K) gtc (V) tcc (S) gat (D) gag (E) ctg (L) gtg (V) aag (K) gtc (V) tcc (S) wild type sequence in deletion region: gtg (V) aag (K) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aag (K) 119 K 119 K - pancreas MEN1 1 c.440_442delTCA p.I147del length of cdnaseq = 1833 length of protseq = 610 440 442 TCA 3 147 2 148 1 tca Total no. of codons in cdna seq = 611 atc aca start a-t end a-c a-- -ca aca (T) length of cdnaseq after deletion = 1830 ter codon is tga at posn 610 Protein length after deletion = 609 Total no. of codons in del cdnaseq = 610 last codon in array is tga agc (S) ttc (F) atc (I) aca (T) ggc (G) acc (T) aaa (K) ttg (L) agc (S) ttc (F) aca (T) ggc (G) acc (T) aaa (K) wild type sequence in deletion region: atc (I) aca (T) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : atc (I) 147 I 147 I - pancreas MEN1 1 c.660_668del9 p.L221_L223del length of cdnaseq = 1833 length of protseq = 610 660 668 9 9 220 3 223 2 gctgtacct Total no. of codons in cdna seq = 611 tgg ctg start g-g end t-g tg- --g tgg (W) length of cdnaseq after deletion = 1824 ter codon is tga at posn 608 Protein length after deletion = 607 Total no. of codons in del cdnaseq = 608 last codon in array is tga cgg (R) agc (S) tgg (W) ctg (L) aaa (K) gga (G) tca (S) tac (Y) cgg (R) agc (S) tgg (W) aaa (K) gga (G) tca (S) wild type sequence in deletion region: tgg (W) ctg (L) tac (Y) ctg (L) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : ctg (L) 221 L 223 L parathyroid MEN1 1 c.1240_1275del36 p.L414_E425del length of cdnaseq = 1833 length of protseq = 610 1240 1275 36 36 414 1 425 3 ctgcgattctacgacggcatctgcaaatgggaggag Total no. of codons in cdna seq = 611 ctg gag prev g start g-c post g end g-g --- --- No joining codon length of cdnaseq after deletion = 1797 ter codon is tga at posn 599 Protein length after deletion = 598 Total no. of codons in del cdnaseq = 599 last codon in array is tga cac (H) ctg (L) ctg (L) gag (E) ggc (G) agt (S) ccc (P) acg (T) cac (H) ctg (L) ggc (G) agt (S) ccc (P) acg (T) wild type sequence in deletion region: ctg (L) cga (R) ttc (F) tac (Y) gac (D) ggc (G) atc (I) tgc (C) aaa (K) tgg (W) gag (E) gag (E) wt inframe deln region length = 12 first wt aa affected by inframe deletion is : ctg (L) 414 L 425 E parathyroid MEN1 1 c.354_356delGAA p.K119del length of cdnaseq = 1833 length of protseq = 610 354 356 GAA 3 118 3 119 2 gaa Total no. of codons in cdna seq = 611 gtg aag start t-g end a-g gt- --g gtg (V) length of cdnaseq after deletion = 1830 ter codon is tga at posn 610 Protein length after deletion = 609 Total no. of codons in del cdnaseq = 610 last codon in array is tga gag (E) ctg (L) gtg (V) aag (K) aag (K) gtc (V) tcc (S) gat (D) gag (E) ctg (L) gtg (V) aag (K) gtc (V) tcc (S) wild type sequence in deletion region: gtg (V) aag (K) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aag (K) 119 K 119 K - parathyroid MEN1 1 c.725_742del18 p.A242_I247del length of cdnaseq = 1833 length of protseq = 610 725 742 18 18 242 2 248 1 ccatcaacccttccattg Total no. of codons in cdna seq = 611 gcc gac start g-c end g-a g-- -ac gac (D) length of cdnaseq after deletion = 1815 ter codon is tga at posn 605 Protein length after deletion = 604 Total no. of codons in del cdnaseq = 605 last codon in array is tga gtg (V) tgt (C) gcc (A) gac (D) ctg (L) cac (H) acc (T) gac (D) gtg (V) tgt (C) gac (D) ctg (L) cac (H) acc (T) wild type sequence in deletion region: gcc (A) atc (I) aac (N) cct (P) tcc (S) att (I) gac (D) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gcc (A) 242 A 247 I parathyroid MEN1 1 c.794_802del9 p.W265_L267del length of cdnaseq = 1833 length of protseq = 610 794 802 9 9 265 2 268 1 ggctgctct Total no. of codons in cdna seq = 611 tgg tat start t-g end t-a t-- -at tat (Y) length of cdnaseq after deletion = 1824 ter codon is tga at posn 608 Protein length after deletion = 607 Total no. of codons in del cdnaseq = 608 last codon in array is tga ctg (L) ctc (L) tgg (W) tat (Y) gac (D) ctg (L) gga (G) cat (H) ctg (L) ctc (L) tat (Y) gac (D) ctg (L) gga (G) wild type sequence in deletion region: tgg (W) ctg (L) ctc (L) tat (Y) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : tgg (W) 265 W 267 L parathyroid MEN1 1 c.83_118del36 p.G28_L39del length of cdnaseq = 1833 length of protseq = 610 83 118 36 36 28 2 40 1 gccgagaggagccggacctggtgctcctttccttgg Total no. of codons in cdna seq = 611 ggc gtg start g-g end g-t g-- -tg gtg (V) length of cdnaseq after deletion = 1797 ter codon is tga at posn 599 Protein length after deletion = 598 Total no. of codons in del cdnaseq = 599 last codon in array is tga gag (E) ctg (L) ggc (G) gtg (V) ctg (L) ggc (G) ttc (F) gtg (V) gag (E) ctg (L) gtg (V) ctg (L) ggc (G) ttc (F) wild type sequence in deletion region: ggc (G) cga (R) gag (E) gag (E) ccg (P) gac (D) ctg (L) gtg (V) ctc (L) ctt (L) tcc (S) ttg (L) gtg (V) wt inframe deln region length = 13 first wt aa affected by inframe deletion is : ggc (G) 28 G 39 L parathyroid MEN1 2 c.398_430del33 p.Y133_L143del length of cdnaseq = 1833 length of protseq = 610 398 430 33 33 133 2 144 1 acttcaaggatcgggcccacatccagtccctct Total no. of codons in cdna seq = 611 tac ttc start t-a end t-t t-- -tc ttc (F) length of cdnaseq after deletion = 1800 ter codon is tga at posn 600 Protein length after deletion = 599 Total no. of codons in del cdnaseq = 600 last codon in array is tga cgc (R) tcc (S) tac (Y) ttc (F) agc (S) ttc (F) atc (I) aca (T) cgc (R) tcc (S) ttc (F) agc (S) ttc (F) atc (I) wild type sequence in deletion region: tac (Y) ttc (F) aag (K) gat (D) cgg (R) gcc (A) cac (H) atc (I) cag (Q) tcc (S) ctc (L) ttc (F) wt inframe deln region length = 12 first wt aa affected by inframe deletion is : tac (Y) 133 Y 143 L lung MET 1 c.2942_3082del141 p.D981_D1028del length of cdnaseq = 4227 length of protseq = 1408 2942 3082 141 141 981 2 1028 1 atctgggcagtgaattagttcgctacgatgcaagagtacacactcctcatttggataggcttgtaagtgcccgaagtgtaagcccaactacagaaatggtttcaaatgaatctgtagactaccgagctacttttccagaag Total no. of codons in cdna seq = 1409 gat gat start g-a end g-a g-- -at gat (D) length of cdnaseq after deletion = 4086 ter codon is tag at posn 1362 Protein length after deletion = 1361 Total no. of codons in del cdnaseq = 1362 last codon in array is tag att (I) aaa (K) gat (D) gat (D) cag (Q) ttt (F) cct (P) aat (N) att (I) aaa (K) gat (D) cag (Q) ttt (F) cct (P) wild type sequence in deletion region: gat (D) ctg (L) ggc (G) agt (S) gaa (E) tta (L) gtt (V) cgc (R) tac (Y) gat (D) gca (A) aga (R) gta (V) cac (H) act (T) cct (P) cat (H) ttg (L) gat (D) agg (R) ctt (L) gta (V) agt (S) gcc (A) cga (R) agt (S) gta (V) agc (S) cca (P) act (T) aca (T) gaa (E) atg (M) gtt (V) tca (S) aat (N) gaa (E) tct (S) gta (V) gac (D) tac (Y) cga (R) gct (A) act (T) ttt (F) cca (P) gaa (E) gat (D) wt inframe deln region length = 48 first wt aa affected by inframe deletion is : ctg (L) 981 D 1028 D L D 1 lung MET c.2942_3082del141 p.D981_D1028del lung MET 1 c.2942_3082del141 p.Q1029_G1105del length of cdnaseq = 4227 length of protseq = 1408 2942 3082 141 141 981 2 1028 1 atctgggcagtgaattagttcgctacgatgcaagagtacacactcctcatttggataggcttgtaagtgcccgaagtgtaagcccaactacagaaatggtttcaaatgaatctgtagactaccgagctacttttccagaag Total no. of codons in cdna seq = 1409 gat gat start g-a end g-a g-- -at gat (D) length of cdnaseq after deletion = 4086 ter codon is tag at posn 1362 Protein length after deletion = 1361 Total no. of codons in del cdnaseq = 1362 last codon in array is tag att (I) aaa (K) gat (D) gat (D) cag (Q) ttt (F) cct (P) aat (N) att (I) aaa (K) gat (D) cag (Q) ttt (F) cct (P) wild type sequence in deletion region: gat (D) ctg (L) ggc (G) agt (S) gaa (E) tta (L) gtt (V) cgc (R) tac (Y) gat (D) gca (A) aga (R) gta (V) cac (H) act (T) cct (P) cat (H) ttg (L) gat (D) agg (R) ctt (L) gta (V) agt (S) gcc (A) cga (R) agt (S) gta (V) agc (S) cca (P) act (T) aca (T) gaa (E) atg (M) gtt (V) tca (S) aat (N) gaa (E) tct (S) gta (V) gac (D) tac (Y) cga (R) gct (A) act (T) ttt (F) cca (P) gaa (E) gat (D) wt inframe deln region length = 48 first wt aa affected by inframe deletion is : ctg (L) 1029 Q 1105 G L Q 1 lung MET c.2942_3082del141 p.Q1029_G1105del lung MET 2 c.2942_3082del141 p.982_1028del47 length of cdnaseq = 4227 length of protseq = 1408 2942 3082 141 141 981 2 1028 1 atctgggcagtgaattagttcgctacgatgcaagagtacacactcctcatttggataggcttgtaagtgcccgaagtgtaagcccaactacagaaatggtttcaaatgaatctgtagactaccgagctacttttccagaag Total no. of codons in cdna seq = 1409 gat gat start g-a end g-a g-- -at gat (D) length of cdnaseq after deletion = 4086 ter codon is tag at posn 1362 Protein length after deletion = 1361 Total no. of codons in del cdnaseq = 1362 last codon in array is tag att (I) aaa (K) gat (D) gat (D) cag (Q) ttt (F) cct (P) aat (N) att (I) aaa (K) gat (D) cag (Q) ttt (F) cct (P) wild type sequence in deletion region: gat (D) ctg (L) ggc (G) agt (S) gaa (E) tta (L) gtt (V) cgc (R) tac (Y) gat (D) gca (A) aga (R) gta (V) cac (H) act (T) cct (P) cat (H) ttg (L) gat (D) agg (R) ctt (L) gta (V) agt (S) gcc (A) cga (R) agt (S) gta (V) agc (S) cca (P) act (T) aca (T) gaa (E) atg (M) gtt (V) tca (S) aat (N) gaa (E) tct (S) gta (V) gac (D) tac (Y) cga (R) gct (A) act (T) ttt (F) cca (P) gaa (E) gat (D) wt inframe deln region length = 48 first wt aa affected by inframe deletion is : ctg (L) 982 - 1028 - 47 L - 2 lung MET c.2942_3082del141 p.982_1028del47 lung MET 3 c.2942_3082del141 p.L982_D1028del length of cdnaseq = 4227 length of protseq = 1408 2942 3082 141 141 981 2 1028 1 atctgggcagtgaattagttcgctacgatgcaagagtacacactcctcatttggataggcttgtaagtgcccgaagtgtaagcccaactacagaaatggtttcaaatgaatctgtagactaccgagctacttttccagaag Total no. of codons in cdna seq = 1409 gat gat start g-a end g-a g-- -at gat (D) length of cdnaseq after deletion = 4086 ter codon is tag at posn 1362 Protein length after deletion = 1361 Total no. of codons in del cdnaseq = 1362 last codon in array is tag att (I) aaa (K) gat (D) gat (D) cag (Q) ttt (F) cct (P) aat (N) att (I) aaa (K) gat (D) cag (Q) ttt (F) cct (P) wild type sequence in deletion region: gat (D) ctg (L) ggc (G) agt (S) gaa (E) tta (L) gtt (V) cgc (R) tac (Y) gat (D) gca (A) aga (R) gta (V) cac (H) act (T) cct (P) cat (H) ttg (L) gat (D) agg (R) ctt (L) gta (V) agt (S) gcc (A) cga (R) agt (S) gta (V) agc (S) cca (P) act (T) aca (T) gaa (E) atg (M) gtt (V) tca (S) aat (N) gaa (E) tct (S) gta (V) gac (D) tac (Y) cga (R) gct (A) act (T) ttt (F) cca (P) gaa (E) gat (D) wt inframe deln region length = 48 first wt aa affected by inframe deletion is : ctg (L) 982 L 1028 D lung MET 4 c.2942_3082del141 p.982_1028del47 length of cdnaseq = 4227 length of protseq = 1408 2942 3082 141 141 981 2 1028 1 atctgggcagtgaattagttcgctacgatgcaagagtacacactcctcatttggataggcttgtaagtgcccgaagtgtaagcccaactacagaaatggtttcaaatgaatctgtagactaccgagctacttttccagaag Total no. of codons in cdna seq = 1409 gat gat start g-a end g-a g-- -at gat (D) length of cdnaseq after deletion = 4086 ter codon is tag at posn 1362 Protein length after deletion = 1361 Total no. of codons in del cdnaseq = 1362 last codon in array is tag att (I) aaa (K) gat (D) gat (D) cag (Q) ttt (F) cct (P) aat (N) att (I) aaa (K) gat (D) cag (Q) ttt (F) cct (P) wild type sequence in deletion region: gat (D) ctg (L) ggc (G) agt (S) gaa (E) tta (L) gtt (V) cgc (R) tac (Y) gat (D) gca (A) aga (R) gta (V) cac (H) act (T) cct (P) cat (H) ttg (L) gat (D) agg (R) ctt (L) gta (V) agt (S) gcc (A) cga (R) agt (S) gta (V) agc (S) cca (P) act (T) aca (T) gaa (E) atg (M) gtt (V) tca (S) aat (N) gaa (E) tct (S) gta (V) gac (D) tac (Y) cga (R) gct (A) act (T) ttt (F) cca (P) gaa (E) gat (D) wt inframe deln region length = 48 first wt aa affected by inframe deletion is : ctg (L) 982 - 1028 - 47 L - 4 lung MET c.2942_3082del141 p.982_1028del47 large_intestine MLH1 1 c.1852_1854delAAG p.K618del length of cdnaseq = 2271 length of protseq = 756 1852 1854 AAG 3 618 1 618 3 aag Total no. of codons in cdna seq = 757 aag aag prev g start g-a post g end g-g --- --- No joining codon length of cdnaseq after deletion = 2268 ter codon is taa at posn 756 Protein length after deletion = 755 Total no. of codons in del cdnaseq = 756 last codon in array is taa aag (K) aag (K) aag (K) aag (K) gct (A) gag (E) atg (M) ctt (L) aag (K) aag (K) gct (A) gag (E) atg (M) ctt (L) wild type sequence in deletion region: aag (K) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : aag (K) 618 K 618 K - endometrium MSH2 1 c.1133_1135delAAG p.E378del length of cdnaseq = 2805 length of protseq = 934 1133 1135 AAG 3 378 2 379 1 aag Total no. of codons in cdna seq = 935 gaa gat start g-a end g-a g-- -at gat (D) length of cdnaseq after deletion = 2802 ter codon is tga at posn 934 Protein length after deletion = 933 Total no. of codons in del cdnaseq = 934 last codon in array is tga tta (L) caa (Q) gaa (E) gat (D) tta (L) ctt (L) cgt (R) cga (R) tta (L) caa (Q) gat (D) tta (L) ctt (L) cgt (R) wild type sequence in deletion region: gaa (E) gat (D) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gaa (E) 378 E 378 E - breast MYH9 1 c.4200_4202delGCA p.H1401del length of cdnaseq = 5883 length of protseq = 1960 4200 4202 GCA 3 1400 3 1401 2 gca Total no. of codons in cdna seq = 1961 cgg cac start g-g end a-c cg- --c cgc (R) length of cdnaseq after deletion = 5880 ter codon is taa at posn 1960 Protein length after deletion = 1959 Total no. of codons in del cdnaseq = 1960 last codon in array is taa agc (S) cag (Q) cgg (R) cac (H) gag (E) gag (E) aag (K) gtg (V) agc (S) cag (Q) cgc (R) gag (E) gag (E) aag (K) wild type sequence in deletion region: cgg (R) cac (H) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cac (H) 1401 H 1401 H - breast MYH9 1 c.4200_4202delGCA p.H1401_E1402>E length of cdnaseq = 5883 length of protseq = 1960 4200 4202 GCA 3 1400 3 1401 2 gca Total no. of codons in cdna seq = 1961 cgg cac start g-g end a-c cg- --c cgc (R) length of cdnaseq after deletion = 5880 ter codon is taa at posn 1960 Protein length after deletion = 1959 Total no. of codons in del cdnaseq = 1960 last codon in array is taa agc (S) cag (Q) cgg (R) cac (H) gag (E) gag (E) aag (K) gtg (V) agc (S) cag (Q) cgc (R) gag (E) gag (E) aag (K) wild type sequence in deletion region: cgg (R) cac (H) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cac (H) 1401 H 1402 E E upper_aerodigestive_tract MYH9 1 c.3745_3768delAAAGTGGAGGCGCAGCTGCAGGAG p.K1249_E1256delKVEAQLQE length of cdnaseq = 5883 length of protseq = 1960 3745 3768 AAAGTGGAGGCGCAGCTGCAGGAG 24 1249 1 1256 3 aaagtggaggcgcagctgcaggag Total no. of codons in cdna seq = 1961 aaa gag prev g start g-a post c end g-c --- --- No joining codon length of cdnaseq after deletion = 5859 ter codon is taa at posn 1953 Protein length after deletion = 1952 Total no. of codons in del cdnaseq = 1953 last codon in array is taa cgc (R) aag (K) aaa (K) gag (E) ctg (L) cag (Q) gtc (V) aag (K) cgc (R) aag (K) ctg (L) cag (Q) gtc (V) aag (K) wild type sequence in deletion region: aaa (K) gtg (V) gag (E) gcg (A) cag (Q) ctg (L) cag (Q) gag (E) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : aaa (K) 1249 K 1256 E KVEAQLQE soft_tissue NF1 1 c.1528_1641del114 p.N510_E547del length of cdnaseq = 8520 length of protseq = 2839 1528 1641 114 114 510 1 547 3 aatccaagaaaacaggggcccgaaacccaaggcagtacagcagaattaattacagggctcgtccaactggtccctcagtcacacatgccagagattgctcaggaagcaatggag Total no. of codons in cdna seq = 2840 aat gag prev t start t-a post g end g-g --- --- No joining codon length of cdnaseq after deletion = 8406 ter codon is tga at posn 2802 Protein length after deletion = 2801 Total no. of codons in del cdnaseq = 2802 last codon in array is tga ctt (L) tgt (C) aat (N) gag (E) gct (A) ctg (L) ctg (L) gtt (V) ctt (L) tgt (C) gct (A) ctg (L) ctg (L) gtt (V) wild type sequence in deletion region: aat (N) cca (P) aga (R) aaa (K) cag (Q) ggg (G) ccc (P) gaa (E) acc (T) caa (Q) ggc (G) agt (S) aca (T) gca (A) gaa (E) tta (L) att (I) aca (T) ggg (G) ctc (L) gtc (V) caa (Q) ctg (L) gtc (V) cct (P) cag (Q) tca (S) cac (H) atg (M) cca (P) gag (E) att (I) gct (A) cag (Q) gaa (E) gca (A) atg (M) gag (E) wt inframe deln region length = 38 first wt aa affected by inframe deletion is : aat (N) 510 N 547 E soft_tissue NF1 1 c.2341_2358del18 p.H781_Q786del length of cdnaseq = 8520 length of protseq = 2839 2341 2358 18 18 781 1 786 3 catgcaaaatgggaacaa Total no. of codons in cdna seq = 2840 cat caa prev a start a-c post g end a-g --- --- No joining codon length of cdnaseq after deletion = 8502 ter codon is tga at posn 2834 Protein length after deletion = 2833 Total no. of codons in del cdnaseq = 2834 last codon in array is tga gat (D) aca (T) cat (H) caa (Q) gca (A) aca (T) aag (K) cta (L) gat (D) aca (T) gca (A) aca (T) aag (K) cta (L) wild type sequence in deletion region: cat (H) gca (A) aaa (K) tgg (W) gaa (E) caa (Q) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : cat (H) 781 H 786 Q soft_tissue NF1 1 c.2534_2557del24 p.C845_Q853>* length of cdnaseq = 8520 length of protseq = 2839 2534 2557 24 24 845 2 853 1 gtgcccttgggggagtgtgcctcc Total no. of codons in cdna seq = 2840 tgt cag start t-g end c-a t-- -ag tag (TER) length of cdnaseq after deletion = 8496 ter codon is tag at posn 845 Protein length after deletion = 844 Total no. of codons in del cdnaseq = 2832 last codon in array is tga ttc (F) ctt (L) tgt (C) cag (Q) cag (Q) aga (R) agc (S) aat (N) ttc (F) ctt (L) tag (TER) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: tgt (C) gcc (A) ctt (L) ggg (G) gga (G) gtg (V) tgc (C) ctc (L) cag (Q) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : tgt (C) 845 C 853 Q * soft_tissue NF1 1 c.532_558del27 p.E178_D186del length of cdnaseq = 8520 length of protseq = 2839 532 558 27 27 178 1 186 3 gaattgttacagtatatcaatgtggat Total no. of codons in cdna seq = 2840 gaa gat prev a start a-g post t end t-t --- --- No joining codon length of cdnaseq after deletion = 8493 ter codon is tga at posn 2831 Protein length after deletion = 2830 Total no. of codons in del cdnaseq = 2831 last codon in array is tga gat (D) ata (I) gaa (E) gat (D) tgt (C) gca (A) aaa (K) tta (L) gat (D) ata (I) tgt (C) gca (A) aaa (K) tta (L) wild type sequence in deletion region: gaa (E) ttg (L) tta (L) cag (Q) tat (Y) atc (I) aat (N) gtg (V) gat (D) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : gaa (E) 178 E 186 D central_nervous_system NF2 1 c.379_1146del768 p.L127_D382del length of cdnaseq = 1788 length of protseq = 595 379 1146 768 768 127 1 382 3 ttagatgaaaagatctactgccctcctgaggcttctgtgctcctggcttcttacgccgtccaggccaagtatggtgactacgaccccagtgttcacaagcggggatttttggcccaagaggaattgcttccaaaaagggtaataaatctgtatcagatgactccggaaatgtgggaggagagaattactgcttggtacgcagagcaccgaggccgagccagggatgaagctgaaatggaatatctgaagatagctcaggacctggagatgtacggtgtgaactactttgcaatccggaataaaaagggcacagagctgctgcttggagtggatgccctggggcttcacatttatgaccctgagaacagactgacccccaagatctccttcccgtggaatgaaatccgaaacatctcgtacagtgacaaggagtttactattaaaccactggataagaaaattgatgtcttcaagtttaactcctcaaagcttcgtgttaataagctgattctccagctatgtatcgggaaccatgatctatttatgaggagaaggaaagccgattctttggaagttcagcagatgaaagcccaggccagggaggagaaggctagaaagcagatggagcggcagcgcctcgctcgagagaagcagatgagggaggaggctgaacgcacgagggatgagttggagaggaggctgctgcagatgaaagaagaagcaacaatggccaacgaagcactgatgcggtctgaggagacagctgac Total no. of codons in cdna seq = 596 tta gac prev t start t-t post c end c-c --- --- No joining codon length of cdnaseq after deletion = 1020 ter codon is tag at posn 340 Protein length after deletion = 339 Total no. of codons in del cdnaseq = 340 last codon in array is tag cag (Q) att (I) tta (L) gac (D) ctg (L) ttg (L) gct (A) gaa (E) cag (Q) att (I) ctg (L) ttg (L) gct (A) gaa (E) wild type sequence in deletion region: tta (L) gat (D) gaa (E) aag (K) atc (I) tac (Y) tgc (C) cct (P) cct (P) gag (E) gct (A) tct (S) gtg (V) ctc (L) ctg (L) gct (A) tct (S) tac (Y) gcc (A) gtc (V) cag (Q) gcc (A) aag (K) tat (Y) ggt (G) gac (D) tac (Y) gac (D) ccc (P) agt (S) gtt (V) cac (H) aag (K) cgg (R) gga (G) ttt (F) ttg (L) gcc (A) caa (Q) gag (E) gaa (E) ttg (L) ctt (L) cca (P) aaa (K) agg (R) gta (V) ata (I) aat (N) ctg (L) tat (Y) cag (Q) atg (M) act (T) ccg (P) gaa (E) atg (M) tgg (W) gag (E) gag (E) aga (R) att (I) act (T) gct (A) tgg (W) tac (Y) gca (A) gag (E) cac (H) cga (R) ggc (G) cga (R) gcc (A) agg (R) gat (D) gaa (E) gct (A) gaa (E) atg (M) gaa (E) tat (Y) ctg (L) aag (K) ata (I) gct (A) cag (Q) gac (D) ctg (L) gag (E) atg (M) tac (Y) ggt (G) gtg (V) aac (N) tac (Y) ttt (F) gca (A) atc (I) cgg (R) aat (N) aaa (K) aag (K) ggc (G) aca (T) gag (E) ctg (L) ctg (L) ctt (L) gga (G) gtg (V) gat (D) gcc (A) ctg (L) ggg (G) ctt (L) cac (H) att (I) tat (Y) gac (D) cct (P) gag (E) aac (N) aga (R) ctg (L) acc (T) ccc (P) aag (K) atc (I) tcc (S) ttc (F) ccg (P) tgg (W) aat (N) gaa (E) atc (I) cga (R) aac (N) atc (I) tcg (S) tac (Y) agt (S) gac (D) aag (K) gag (E) ttt (F) act (T) att (I) aaa (K) cca (P) ctg (L) gat (D) aag (K) aaa (K) att (I) gat (D) gtc (V) ttc (F) aag (K) ttt (F) aac (N) tcc (S) tca (S) aag (K) ctt (L) cgt (R) gtt (V) aat (N) aag (K) ctg (L) att (I) ctc (L) cag (Q) cta (L) tgt (C) atc (I) ggg (G) aac (N) cat (H) gat (D) cta (L) ttt (F) atg (M) agg (R) aga (R) agg (R) aaa (K) gcc (A) gat (D) tct (S) ttg (L) gaa (E) gtt (V) cag (Q) cag (Q) atg (M) aaa (K) gcc (A) cag (Q) gcc (A) agg (R) gag (E) gag (E) aag (K) gct (A) aga (R) aag (K) cag (Q) atg (M) gag (E) cgg (R) cag (Q) cgc (R) ctc (L) gct (A) cga (R) gag (E) aag (K) cag (Q) atg (M) agg (R) gag (E) gag (E) gct (A) gaa (E) cgc (R) acg (T) agg (R) gat (D) gag (E) ttg (L) gag (E) agg (R) agg (R) ctg (L) ctg (L) cag (Q) atg (M) aaa (K) gaa (E) gaa (E) gca (A) aca (T) atg (M) gcc (A) aac (N) gaa (E) gca (A) ctg (L) atg (M) cgg (R) tct (S) gag (E) gag (E) aca (T) gct (A) gac (D) wt inframe deln region length = 256 first wt aa affected by inframe deletion is : gat (D) 127 L 382 D D L 1 central_nervous_system NF2 c.379_1146del768 p.L127_D382del central_nervous_system NF2 1 c.417_755del339 p.L140_P252del length of cdnaseq = 1788 length of protseq = 595 417 755 339 339 139 3 252 2 gctcctggcttcttacgccgtccaggccaagtatggtgactacgaccccagtgttcacaagcggggatttttggcccaagaggaattgcttccaaaaagggtaataaatctgtatcagatgactccggaaatgtgggaggagagaattactgcttggtacgcagagcaccgaggccgagccagggatgaagctgaaatggaatatctgaagatagctcaggacctggagatgtacggtgtgaactactttgcaatccggaataaaaagggcacagagctgctgcttggagtggatgccctggggcttcacatttatgaccctgagaacagactgacccc Total no. of codons in cdna seq = 596 gtg ccc start t-g end c-c gt- --c gtc (V) length of cdnaseq after deletion = 1449 ter codon is tag at posn 483 Protein length after deletion = 482 Total no. of codons in del cdnaseq = 483 last codon in array is tag gct (A) tct (S) gtg (V) ccc (P) aag (K) atc (I) tcc (S) ttc (F) gct (A) tct (S) gtc (V) aag (K) atc (I) tcc (S) wild type sequence in deletion region: gtg (V) ctc (L) ctg (L) gct (A) tct (S) tac (Y) gcc (A) gtc (V) cag (Q) gcc (A) aag (K) tat (Y) ggt (G) gac (D) tac (Y) gac (D) ccc (P) agt (S) gtt (V) cac (H) aag (K) cgg (R) gga (G) ttt (F) ttg (L) gcc (A) caa (Q) gag (E) gaa (E) ttg (L) ctt (L) cca (P) aaa (K) agg (R) gta (V) ata (I) aat (N) ctg (L) tat (Y) cag (Q) atg (M) act (T) ccg (P) gaa (E) atg (M) tgg (W) gag (E) gag (E) aga (R) att (I) act (T) gct (A) tgg (W) tac (Y) gca (A) gag (E) cac (H) cga (R) ggc (G) cga (R) gcc (A) agg (R) gat (D) gaa (E) gct (A) gaa (E) atg (M) gaa (E) tat (Y) ctg (L) aag (K) ata (I) gct (A) cag (Q) gac (D) ctg (L) gag (E) atg (M) tac (Y) ggt (G) gtg (V) aac (N) tac (Y) ttt (F) gca (A) atc (I) cgg (R) aat (N) aaa (K) aag (K) ggc (G) aca (T) gag (E) ctg (L) ctg (L) ctt (L) gga (G) gtg (V) gat (D) gcc (A) ctg (L) ggg (G) ctt (L) cac (H) att (I) tat (Y) gac (D) cct (P) gag (E) aac (N) aga (R) ctg (L) acc (T) ccc (P) wt inframe deln region length = 114 first wt aa affected by inframe deletion is : ctc (L) 140 L 252 P central_nervous_system NF2 1 c.811_885del75 p.F271_L295del length of cdnaseq = 1788 length of protseq = 595 811 885 75 75 271 1 295 3 tttactattaaaccactggataagaaaattgatgtcttcaagtttaactcctcaaagcttcgtgttaataagctg Total no. of codons in cdna seq = 596 ttt ctg prev g start g-t post a end g-a --- --- No joining codon length of cdnaseq after deletion = 1713 ter codon is tag at posn 571 Protein length after deletion = 570 Total no. of codons in del cdnaseq = 571 last codon in array is tag aag (K) gag (E) ttt (F) ctg (L) att (I) ctc (L) cag (Q) cta (L) aag (K) gag (E) att (I) ctc (L) cag (Q) cta (L) wild type sequence in deletion region: ttt (F) act (T) att (I) aaa (K) cca (P) ctg (L) gat (D) aag (K) aaa (K) att (I) gat (D) gtc (V) ttc (F) aag (K) ttt (F) aac (N) tcc (S) tca (S) aag (K) ctt (L) cgt (R) gtt (V) aat (N) aag (K) ctg (L) wt inframe deln region length = 25 first wt aa affected by inframe deletion is : ttt (F) 271 F 295 L meninges NF2 1 c.133_144del12 p.D45_D48del length of cdnaseq = 1788 length of protseq = 595 133 144 12 12 45 1 48 3 gacctctttgat Total no. of codons in cdna seq = 596 gac gat prev g start g-g post t end t-t --- --- No joining codon length of cdnaseq after deletion = 1776 ter codon is tag at posn 592 Protein length after deletion = 591 Total no. of codons in del cdnaseq = 592 last codon in array is tag ggg (G) aag (K) gac (D) gat (D) ttg (L) gtg (V) tgc (C) cgg (R) ggg (G) aag (K) ttg (L) gtg (V) tgc (C) cgg (R) wild type sequence in deletion region: gac (D) ctc (L) ttt (F) gat (D) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : gac (D) 45 D 48 D meninges NF2 1 c.174_197del24 p.E58_Y66>D length of cdnaseq = 1788 length of protseq = 595 174 197 24 24 58 3 66 2 aacctggttctttggactgcagta Total no. of codons in cdna seq = 596 gaa tac start a-a end a-c ga- --c gac (D) length of cdnaseq after deletion = 1764 ter codon is tag at posn 588 Protein length after deletion = 587 Total no. of codons in del cdnaseq = 588 last codon in array is tag ctc (L) cga (R) gaa (E) tac (Y) aca (T) atc (I) aag (K) gac (D) ctc (L) cga (R) gac (D) aca (T) atc (I) aag (K) wild type sequence in deletion region: gaa (E) acc (T) tgg (W) ttc (F) ttt (F) gga (G) ctg (L) cag (Q) tac (Y) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : gaa (E) 58 E 66 Y D meninges NF2 1 c.302_304delATC p.Y101_P102>S length of cdnaseq = 1788 length of protseq = 595 302 304 ATC 3 101 2 102 1 atc Total no. of codons in cdna seq = 596 tat cct start t-a end c-c t-- -ct tct (S) length of cdnaseq after deletion = 1785 ter codon is tag at posn 595 Protein length after deletion = 594 Total no. of codons in del cdnaseq = 595 last codon in array is tag aaa (K) ttt (F) tat (Y) cct (P) gag (E) aat (N) gct (A) gaa (E) aaa (K) ttt (F) tct (S) gag (E) aat (N) gct (A) wild type sequence in deletion region: tat (Y) cct (P) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : tat (Y) 101 Y 102 P S meninges NF2 1 c.329_424del96 p.V110_L141del length of cdnaseq = 1788 length of protseq = 595 329 424 96 96 110 2 142 1 ttcaggagatcacacaacatttattcttcttacaggtaaagaagcagattttagatgaaaagatctactgccctcctgaggcttctgtgctcctgg Total no. of codons in cdna seq = 596 gtt gct start g-t end g-c g-- -ct gct (A) length of cdnaseq after deletion = 1692 ter codon is tag at posn 564 Protein length after deletion = 563 Total no. of codons in del cdnaseq = 564 last codon in array is tag gag (E) ctg (L) gtt (V) gct (A) tct (S) tac (Y) gcc (A) gtc (V) gag (E) ctg (L) gct (A) tct (S) tac (Y) gcc (A) wild type sequence in deletion region: gtt (V) cag (Q) gag (E) atc (I) aca (T) caa (Q) cat (H) tta (L) ttc (F) ttc (F) tta (L) cag (Q) gta (V) aag (K) aag (K) cag (Q) att (I) tta (L) gat (D) gaa (E) aag (K) atc (I) tac (Y) tgc (C) cct (P) cct (P) gag (E) gct (A) tct (S) gtg (V) ctc (L) ctg (L) gct (A) wt inframe deln region length = 33 first wt aa affected by inframe deletion is : gtt (V) 110 V 141 L meninges NF2 1 c.366_386del21 p.K123_E129del length of cdnaseq = 1788 length of protseq = 595 366 386 21 21 122 3 129 2 aaagaagcagattttagatga Total no. of codons in cdna seq = 596 gta gaa start t-a end a-a gt- --a gta (V) length of cdnaseq after deletion = 1767 ter codon is tag at posn 589 Protein length after deletion = 588 Total no. of codons in del cdnaseq = 589 last codon in array is tag tta (L) cag (Q) gta (V) gaa (E) aag (K) atc (I) tac (Y) tgc (C) tta (L) cag (Q) gta (V) aag (K) atc (I) tac (Y) wild type sequence in deletion region: gta (V) aag (K) aag (K) cag (Q) att (I) tta (L) gat (D) gaa (E) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : aag (K) 123 K 129 E meninges NF2 1 c.613_621del9 p.M205_Y207del length of cdnaseq = 1788 length of protseq = 595 613 621 9 9 205 1 207 3 atggaatat Total no. of codons in cdna seq = 596 atg tat prev a start a-a post c end t-c --- --- No joining codon length of cdnaseq after deletion = 1779 ter codon is tag at posn 593 Protein length after deletion = 592 Total no. of codons in del cdnaseq = 593 last codon in array is tag gct (A) gaa (E) atg (M) tat (Y) ctg (L) aag (K) ata (I) gct (A) gct (A) gaa (E) ctg (L) aag (K) ata (I) gct (A) wild type sequence in deletion region: atg (M) gaa (E) tat (Y) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : atg (M) 205 M 207 Y skin NF2 1 c.1000_1086del87 p.M334_Q362del length of cdnaseq = 1788 length of protseq = 595 1000 1086 87 87 334 1 362 3 atggagcggcagcgcctcgctcgagagaagcagatgagggaggaggctgaacgcacgagggatgagttggagaggaggctgctgcag Total no. of codons in cdna seq = 596 atg cag prev g start g-a post a end g-a --- --- No joining codon length of cdnaseq after deletion = 1701 ter codon is tag at posn 567 Protein length after deletion = 566 Total no. of codons in del cdnaseq = 567 last codon in array is tag aag (K) cag (Q) atg (M) cag (Q) atg (M) aaa (K) gaa (E) gaa (E) aag (K) cag (Q) atg (M) aaa (K) gaa (E) gaa (E) wild type sequence in deletion region: atg (M) gag (E) cgg (R) cag (Q) cgc (R) ctc (L) gct (A) cga (R) gag (E) aag (K) cag (Q) atg (M) agg (R) gag (E) gag (E) gct (A) gaa (E) cgc (R) acg (T) agg (R) gat (D) gag (E) ttg (L) gag (E) agg (R) agg (R) ctg (L) ctg (L) cag (Q) wt inframe deln region length = 29 first wt aa affected by inframe deletion is : gag (E) 334 M 362 Q E M 1 skin NF2 c.1000_1086del87 p.M334_Q362del skin NF2 1 c.1504_1731del228 p.G502_I577del length of cdnaseq = 1788 length of protseq = 595 1504 1731 228 228 502 1 577 3 ggtgacagcctgtctttcgacttcaaagatactgacatgaagcggctttccatggagatagagaaagaaaaagtggaatacatggaaaagagcaagcatctgcaggagcagctcaatgaactcaagacagaaatcgaggccttgaaactgaaagagagggagacagctctggatattctgcacaatgagaactccgacaggggtggcagcagcaagcacaataccatt Total no. of codons in cdna seq = 596 ggt att prev t start t-g post a end t-a --- --- No joining codon length of cdnaseq after deletion = 1560 ter codon is tag at posn 520 Protein length after deletion = 519 Total no. of codons in del cdnaseq = 520 last codon in array is tag ctc (L) att (I) ggt (G) att (I) aaa (K) aag (K) ctc (L) acc (T) ctc (L) att (I) aaa (K) aag (K) ctc (L) acc (T) wild type sequence in deletion region: ggt (G) gac (D) agc (S) ctg (L) tct (S) ttc (F) gac (D) ttc (F) aaa (K) gat (D) act (T) gac (D) atg (M) aag (K) cgg (R) ctt (L) tcc (S) atg (M) gag (E) ata (I) gag (E) aaa (K) gaa (E) aaa (K) gtg (V) gaa (E) tac (Y) atg (M) gaa (E) aag (K) agc (S) aag (K) cat (H) ctg (L) cag (Q) gag (E) cag (Q) ctc (L) aat (N) gaa (E) ctc (L) aag (K) aca (T) gaa (E) atc (I) gag (E) gcc (A) ttg (L) aaa (K) ctg (L) aaa (K) gag (E) agg (R) gag (E) aca (T) gct (A) ctg (L) gat (D) att (I) ctg (L) cac (H) aat (N) gag (E) aac (N) tcc (S) gac (D) agg (R) ggt (G) ggc (G) agc (S) agc (S) aag (K) cac (H) aat (N) acc (T) att (I) wt inframe deln region length = 76 first wt aa affected by inframe deletion is : ggt (G) 502 G 577 I soft_tissue NF2 1 c.250_300del51 p.H84_F100del length of cdnaseq = 1788 length of protseq = 595 250 300 51 51 84 1 100 3 catgatgtttcaaaggaagaaccagtcacctttcacttcttggccaaattt Total no. of codons in cdna seq = 596 cat ttt prev t start t-c post t end t-t --- --- No joining codon length of cdnaseq after deletion = 1737 ter codon is tag at posn 579 Protein length after deletion = 578 Total no. of codons in del cdnaseq = 579 last codon in array is tag ctg (L) gat (D) cat (H) ttt (F) tat (Y) cct (P) gag (E) aat (N) ctg (L) gat (D) tat (Y) cct (P) gag (E) aat (N) wild type sequence in deletion region: cat (H) gat (D) gtt (V) tca (S) aag (K) gaa (E) gaa (E) cca (P) gtc (V) acc (T) ttt (F) cac (H) ttc (F) ttg (L) gcc (A) aaa (K) ttt (F) wt inframe deln region length = 17 first wt aa affected by inframe deletion is : cat (H) 84 H 100 F soft_tissue NF2 1 c.257_331del75 p.V86_Q111>E length of cdnaseq = 1788 length of protseq = 595 257 331 75 75 86 2 111 1 tttcaaaggaagaaccagtcacctttcacttcttggccaaattttatcctgagaatgctgaagaggagctggttc Total no. of codons in cdna seq = 596 gtt cag start g-t end c-a g-- -ag gag (E) length of cdnaseq after deletion = 1713 ter codon is tag at posn 571 Protein length after deletion = 570 Total no. of codons in del cdnaseq = 571 last codon in array is tag cat (H) gat (D) gtt (V) cag (Q) gag (E) atc (I) aca (T) caa (Q) cat (H) gat (D) gag (E) gag (E) atc (I) aca (T) wild type sequence in deletion region: gtt (V) tca (S) aag (K) gaa (E) gaa (E) cca (P) gtc (V) acc (T) ttt (F) cac (H) ttc (F) ttg (L) gcc (A) aaa (K) ttt (F) tat (Y) cct (P) gag (E) aat (N) gct (A) gaa (E) gag (E) gag (E) ctg (L) gtt (V) cag (Q) wt inframe deln region length = 26 first wt aa affected by inframe deletion is : gtt (V) 86 V 111 Q E soft_tissue NF2 1 c.358_375del18 p.L120_Q125del length of cdnaseq = 1788 length of protseq = 595 358 375 18 18 120 1 125 3 ttacaggtaaagaagcag Total no. of codons in cdna seq = 596 tta cag prev c start c-t post a end g-a --- --- No joining codon length of cdnaseq after deletion = 1770 ter codon is tag at posn 590 Protein length after deletion = 589 Total no. of codons in del cdnaseq = 590 last codon in array is tag ttc (F) ttc (F) tta (L) cag (Q) att (I) tta (L) gat (D) gaa (E) ttc (F) ttc (F) att (I) tta (L) gat (D) gaa (E) wild type sequence in deletion region: tta (L) cag (Q) gta (V) aag (K) aag (K) cag (Q) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : tta (L) 120 L 125 Q soft_tissue NF2 1 c.379_402del24 p.L127_P134del length of cdnaseq = 1788 length of protseq = 595 379 402 24 24 127 1 134 3 ttagatgaaaagatctactgccct Total no. of codons in cdna seq = 596 tta cct prev t start t-t post c end t-c --- --- No joining codon length of cdnaseq after deletion = 1764 ter codon is tag at posn 588 Protein length after deletion = 587 Total no. of codons in del cdnaseq = 588 last codon in array is tag cag (Q) att (I) tta (L) cct (P) cct (P) gag (E) gct (A) tct (S) cag (Q) att (I) cct (P) gag (E) gct (A) tct (S) wild type sequence in deletion region: tta (L) gat (D) gaa (E) aag (K) atc (I) tac (Y) tgc (C) cct (P) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : tta (L) 127 L 134 P soft_tissue NF2 1 c.38_58del21 p.S13_K20>* length of cdnaseq = 1788 length of protseq = 595 38 58 21 21 13 2 20 1 ctctcaagaggaagcaaccca Total no. of codons in cdna seq = 596 tct aag start t-c end a-a t-- -ag tag (TER) length of cdnaseq after deletion = 1767 ter codon is tag at posn 13 Protein length after deletion = 12 Total no. of codons in del cdnaseq = 589 last codon in array is tag ttc (F) agc (S) tct (S) aag (K) acg (T) ttc (F) acc (T) gtg (V) ttc (F) agc (S) tag (TER) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: tct (S) ctc (L) aag (K) agg (R) aag (K) caa (Q) ccc (P) aag (K) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : tct (S) 13 S 20 K * soft_tissue NF2 1 c.433_489del57 p.A145_L163del length of cdnaseq = 1788 length of protseq = 595 433 489 57 57 145 1 163 3 gccgtccaggccaagtatggtgactacgaccccagtgttcacaagcggggatttttg Total no. of codons in cdna seq = 596 gcc ttg prev c start c-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 1731 ter codon is tag at posn 577 Protein length after deletion = 576 Total no. of codons in del cdnaseq = 577 last codon in array is tag tct (S) tac (Y) gcc (A) ttg (L) gcc (A) caa (Q) gag (E) gaa (E) tct (S) tac (Y) gcc (A) caa (Q) gag (E) gaa (E) wild type sequence in deletion region: gcc (A) gtc (V) cag (Q) gcc (A) aag (K) tat (Y) ggt (G) gac (D) tac (Y) gac (D) ccc (P) agt (S) gtt (V) cac (H) aag (K) cgg (R) gga (G) ttt (F) ttg (L) wt inframe deln region length = 19 first wt aa affected by inframe deletion is : gtc (V) 145 A 163 L V A 1 soft_tissue NF2 c.433_489del57 p.A145_L163del soft_tissue NF2 1 c.676_810del135 p.N226_E270del length of cdnaseq = 1788 length of protseq = 595 676 810 135 135 226 1 270 3 aataaaaagggcacagagctgctgcttggagtggatgccctggggcttcacatttatgaccctgagaacagactgacccccaagatctccttcccgtggaatgaaatccgaaacatctcgtacagtgacaaggag Total no. of codons in cdna seq = 596 aat gag prev g start g-a post t end g-t --- --- No joining codon length of cdnaseq after deletion = 1653 ter codon is tag at posn 551 Protein length after deletion = 550 Total no. of codons in del cdnaseq = 551 last codon in array is tag atc (I) cgg (R) aat (N) gag (E) ttt (F) act (T) att (I) aaa (K) atc (I) cgg (R) ttt (F) act (T) att (I) aaa (K) wild type sequence in deletion region: aat (N) aaa (K) aag (K) ggc (G) aca (T) gag (E) ctg (L) ctg (L) ctt (L) gga (G) gtg (V) gat (D) gcc (A) ctg (L) ggg (G) ctt (L) cac (H) att (I) tat (Y) gac (D) cct (P) gag (E) aac (N) aga (R) ctg (L) acc (T) ccc (P) aag (K) atc (I) tcc (S) ttc (F) ccg (P) tgg (W) aat (N) gaa (E) atc (I) cga (R) aac (N) atc (I) tcg (S) tac (Y) agt (S) gac (D) aag (K) gag (E) wt inframe deln region length = 45 first wt aa affected by inframe deletion is : aat (N) 226 N 270 E soft_tissue NF2 1 c.70_84del15 p.V24_T28del length of cdnaseq = 1788 length of protseq = 595 70 84 15 15 24 1 28 3 gtgaggatcgtcacc Total no. of codons in cdna seq = 596 gtg acc prev c start c-g post a end c-a --- --- No joining codon length of cdnaseq after deletion = 1773 ter codon is tag at posn 591 Protein length after deletion = 590 Total no. of codons in del cdnaseq = 591 last codon in array is tag ttc (F) acc (T) gtg (V) acc (T) atg (M) gac (D) gcc (A) gag (E) ttc (F) acc (T) atg (M) gac (D) gcc (A) gag (E) wild type sequence in deletion region: gtg (V) agg (R) atc (I) gtc (V) acc (T) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : gtg (V) 24 V 28 T soft_tissue NF2 1 c.757_795del39 p.K253_S265del length of cdnaseq = 1788 length of protseq = 595 757 795 39 39 253 1 265 3 aagatctccttcccgtggaatgaaatccgaaacatctcg Total no. of codons in cdna seq = 596 aag tcg prev c start c-a post t end g-t --- --- No joining codon length of cdnaseq after deletion = 1749 ter codon is tag at posn 583 Protein length after deletion = 582 Total no. of codons in del cdnaseq = 583 last codon in array is tag acc (T) ccc (P) aag (K) tcg (S) tac (Y) agt (S) gac (D) aag (K) acc (T) ccc (P) tac (Y) agt (S) gac (D) aag (K) wild type sequence in deletion region: aag (K) atc (I) tcc (S) ttc (F) ccg (P) tgg (W) aat (N) gaa (E) atc (I) cga (R) aac (N) atc (I) tcg (S) wt inframe deln region length = 13 first wt aa affected by inframe deletion is : aag (K) 253 K 265 S soft_tissue NF2 1 c.886_999del114 p.I296_Q333del length of cdnaseq = 1788 length of protseq = 595 886 999 114 114 296 1 333 3 attctccagctatgtatcgggaaccatgatctatttatgaggagaaggaaagccgattctttggaagttcagcagatgaaagcccaggccagggaggagaaggctagaaagcag Total no. of codons in cdna seq = 596 att cag prev g start g-a post a end g-a --- --- No joining codon length of cdnaseq after deletion = 1674 ter codon is tag at posn 558 Protein length after deletion = 557 Total no. of codons in del cdnaseq = 558 last codon in array is tag aag (K) ctg (L) att (I) cag (Q) atg (M) gag (E) cgg (R) cag (Q) aag (K) ctg (L) atg (M) gag (E) cgg (R) cag (Q) wild type sequence in deletion region: att (I) ctc (L) cag (Q) cta (L) tgt (C) atc (I) ggg (G) aac (N) cat (H) gat (D) cta (L) ttt (F) atg (M) agg (R) aga (R) agg (R) aaa (K) gcc (A) gat (D) tct (S) ttg (L) gaa (E) gtt (V) cag (Q) cag (Q) atg (M) aaa (K) gcc (A) cag (Q) gcc (A) agg (R) gag (E) gag (E) aag (K) gct (A) aga (R) aag (K) cag (Q) wt inframe deln region length = 38 first wt aa affected by inframe deletion is : att (I) 296 I 333 Q meninges NF2 2 c.288_290delCTT p.F96del length of cdnaseq = 1788 length of protseq = 595 288 290 CTT 3 96 3 97 2 ctt Total no. of codons in cdna seq = 596 ttc ttg start t-c end t-g tt- --g ttg (L) length of cdnaseq after deletion = 1785 ter codon is tag at posn 595 Protein length after deletion = 594 Total no. of codons in del cdnaseq = 595 last codon in array is tag ttt (F) cac (H) ttc (F) ttg (L) gcc (A) aaa (K) ttt (F) tat (Y) ttt (F) cac (H) ttg (L) gcc (A) aaa (K) ttt (F) wild type sequence in deletion region: ttc (F) ttg (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ttc (F) 96 F 96 F - meninges NF2 2 c.352_354delTTC p.F118del length of cdnaseq = 1788 length of protseq = 595 352 354 TTC 3 118 1 118 3 ttc Total no. of codons in cdna seq = 596 ttc ttc prev a start a-t post t end c-t --- --- No joining codon length of cdnaseq after deletion = 1785 ter codon is tag at posn 595 Protein length after deletion = 594 Total no. of codons in del cdnaseq = 595 last codon in array is tag cat (H) tta (L) ttc (F) ttc (F) ttc (F) tta (L) cag (Q) gta (V) cat (H) tta (L) ttc (F) tta (L) cag (Q) gta (V) wild type sequence in deletion region: ttc (F) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : ttg (L) 118 F 118 F - L F 2 meninges NF2 c.352_354delTTC p.F118del meninges NF2 3 c.357_359delCTT p.F119del length of cdnaseq = 1788 length of protseq = 595 357 359 CTT 3 119 3 120 2 ctt Total no. of codons in cdna seq = 596 ttc tta start t-c end t-a tt- --a tta (L) length of cdnaseq after deletion = 1785 ter codon is tag at posn 595 Protein length after deletion = 594 Total no. of codons in del cdnaseq = 595 last codon in array is tag tta (L) ttc (F) ttc (F) tta (L) cag (Q) gta (V) aag (K) aag (K) tta (L) ttc (F) tta (L) cag (Q) gta (V) aag (K) wild type sequence in deletion region: ttc (F) tta (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ttc (F) 119 F 119 F - soft_tissue NF2 3 c.115_240del126 p.M39_K80del length of cdnaseq = 1788 length of protseq = 595 115 240 126 126 39 1 80 3 atgaagtggaaagggaaggacctctttgatttggtgtgccggactctggggctccgagaaacctggttctttggactgcagtacacaatcaaggacacagtggcctggctcaaaatggacaagaag Total no. of codons in cdna seq = 596 atg aag prev g start g-a post g end g-g --- --- No joining codon length of cdnaseq after deletion = 1662 ter codon is tag at posn 554 Protein length after deletion = 553 Total no. of codons in del cdnaseq = 554 last codon in array is tag tgc (C) gag (E) atg (M) aag (K) gta (V) ctg (L) gat (D) cat (H) tgc (C) gag (E) gta (V) ctg (L) gat (D) cat (H) wild type sequence in deletion region: atg (M) aag (K) tgg (W) aaa (K) ggg (G) aag (K) gac (D) ctc (L) ttt (F) gat (D) ttg (L) gtg (V) tgc (C) cgg (R) act (T) ctg (L) ggg (G) ctc (L) cga (R) gaa (E) acc (T) tgg (W) ttc (F) ttt (F) gga (G) ctg (L) cag (Q) tac (Y) aca (T) atc (I) aag (K) gac (D) aca (T) gtg (V) gcc (A) tgg (W) ctc (L) aaa (K) atg (M) gac (D) aag (K) aag (K) wt inframe deln region length = 42 first wt aa affected by inframe deletion is : atg (M) 39 M 80 K soft_tissue NF2 5 c.364_447del84 p.V122_K149del length of cdnaseq = 1788 length of protseq = 595 364 447 84 84 122 1 149 3 gtaaagaagcagattttagatgaaaagatctactgccctcctgaggcttctgtgctcctggcttcttacgccgtccaggccaag Total no. of codons in cdna seq = 596 gta aag prev g start g-g post t end g-t --- --- No joining codon length of cdnaseq after deletion = 1704 ter codon is tag at posn 568 Protein length after deletion = 567 Total no. of codons in del cdnaseq = 568 last codon in array is tag tta (L) cag (Q) gta (V) aag (K) tat (Y) ggt (G) gac (D) tac (Y) tta (L) cag (Q) tat (Y) ggt (G) gac (D) tac (Y) wild type sequence in deletion region: gta (V) aag (K) aag (K) cag (Q) att (I) tta (L) gat (D) gaa (E) aag (K) atc (I) tac (Y) tgc (C) cct (P) cct (P) gag (E) gct (A) tct (S) gtg (V) ctc (L) ctg (L) gct (A) tct (S) tac (Y) gcc (A) gtc (V) cag (Q) gcc (A) aag (K) wt inframe deln region length = 28 first wt aa affected by inframe deletion is : gta (V) 122 V 149 K kidney NIN 1 c.3983_3985delATG p.N1328_V1329>I length of cdnaseq = 6291 length of protseq = 2096 3983 3985 ATG 3 1328 2 1329 1 atg Total no. of codons in cdna seq = 2097 aat gtt start a-a end g-t a-- -tt att (I) length of cdnaseq after deletion = 6288 ter codon is taa at posn 2096 Protein length after deletion = 2095 Total no. of codons in del cdnaseq = 2096 last codon in array is taa gag (E) ctg (L) aat (N) gtt (V) ctg (L) gtt (V) ttg (L) aga (R) gag (E) ctg (L) att (I) ctg (L) gtt (V) ttg (L) wild type sequence in deletion region: aat (N) gtt (V) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aat (N) 1328 N 1329 V I haematopoietic_and_lymphoid_tissue NOTCH1 11 c.4735_4737delGTG p.V1579del length of cdnaseq = 7671 length of protseq = 2556 4735 4737 GTG 3 1579 1 1579 3 gtg Total no. of codons in cdna seq = 2557 gtg gtg prev g start g-g post c end g-c --- --- No joining codon length of cdnaseq after deletion = 7668 ter codon is taa at posn 2556 Protein length after deletion = 2555 Total no. of codons in del cdnaseq = 2556 last codon in array is taa gtg (V) gtg (V) gtg (V) gtg (V) ctg (L) atg (M) ccg (P) ccg (P) gtg (V) gtg (V) ctg (L) atg (M) ccg (P) ccg (P) wild type sequence in deletion region: gtg (V) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gtg (V) 1579 V 1579 V - haematopoietic_and_lymphoid_tissue NOTCH1 1 c.4741_4743delATG p.M1581del length of cdnaseq = 7671 length of protseq = 2556 4741 4743 ATG 3 1581 1 1581 3 atg Total no. of codons in cdna seq = 2557 atg atg prev g start g-a post c end g-c --- --- No joining codon length of cdnaseq after deletion = 7668 ter codon is taa at posn 2556 Protein length after deletion = 2555 Total no. of codons in del cdnaseq = 2556 last codon in array is taa gtg (V) ctg (L) atg (M) atg (M) ccg (P) ccg (P) gag (E) cag (Q) gtg (V) ctg (L) ccg (P) ccg (P) gag (E) cag (Q) wild type sequence in deletion region: atg (M) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : atg (M) 1581 M 1581 M - haematopoietic_and_lymphoid_tissue NOTCH1 1 c.4741_4746delATGCCG p.M1581_P1582del length of cdnaseq = 7671 length of protseq = 2556 4741 4746 ATGCCG 6 1581 1 1582 3 atgccg Total no. of codons in cdna seq = 2557 atg ccg prev g start g-a post c end g-c --- --- No joining codon length of cdnaseq after deletion = 7665 ter codon is taa at posn 2555 Protein length after deletion = 2554 Total no. of codons in del cdnaseq = 2555 last codon in array is taa gtg (V) ctg (L) atg (M) ccg (P) ccg (P) gag (E) cag (Q) ctg (L) gtg (V) ctg (L) ccg (P) gag (E) cag (Q) ctg (L) wild type sequence in deletion region: atg (M) ccg (P) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : atg (M) 1581 M 1582 P haematopoietic_and_lymphoid_tissue NOTCH1 1 c.4746_4748delGCC p.P1583del length of cdnaseq = 7671 length of protseq = 2556 4746 4748 GCC 3 1582 3 1583 2 gcc Total no. of codons in cdna seq = 2557 ccg ccg start c-g end c-g cc- --g ccg (P) length of cdnaseq after deletion = 7668 ter codon is taa at posn 2556 Protein length after deletion = 2555 Total no. of codons in del cdnaseq = 2556 last codon in array is taa ctg (L) atg (M) ccg (P) ccg (P) gag (E) cag (Q) ctg (L) cgc (R) ctg (L) atg (M) ccg (P) gag (E) cag (Q) ctg (L) wild type sequence in deletion region: ccg (P) ccg (P) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ccg (P) 1583 P 1583 P - haematopoietic_and_lymphoid_tissue NOTCH1 1 c.4784_4789delGGGAGC p.R1595_L1597>L length of cdnaseq = 7671 length of protseq = 2556 4784 4789 GGGAGC 6 1595 2 1597 1 gggagc Total no. of codons in cdna seq = 2557 cgg ctc start c-g end c-t c-- -tc ctc (L) length of cdnaseq after deletion = 7665 ter codon is taa at posn 2555 Protein length after deletion = 2554 Total no. of codons in del cdnaseq = 2555 last codon in array is taa ttc (F) ctg (L) cgg (R) ctc (L) agc (S) cgc (R) gtg (V) ctg (L) ttc (F) ctg (L) ctc (L) agc (S) cgc (R) gtg (V) wild type sequence in deletion region: cgg (R) gag (E) ctc (L) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : cgg (R) 1595 R 1597 L L haematopoietic_and_lymphoid_tissue NOTCH1 1 c.4815_4817delGGT p.V1606del length of cdnaseq = 7671 length of protseq = 2556 4815 4817 GGT 3 1605 3 1606 2 ggt Total no. of codons in cdna seq = 2557 gtg gtc start t-g end t-c gt- --c gtc (V) length of cdnaseq after deletion = 7668 ter codon is taa at posn 2556 Protein length after deletion = 2555 Total no. of codons in del cdnaseq = 2556 last codon in array is taa acc (T) aac (N) gtg (V) gtc (V) ttc (F) aag (K) cgt (R) gac (D) acc (T) aac (N) gtc (V) ttc (F) aag (K) cgt (R) wild type sequence in deletion region: gtg (V) gtc (V) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gtc (V) 1606 V 1606 V - haematopoietic_and_lymphoid_tissue NOTCH1 1 c.4828_4902del75 p.D1610_R1634del length of cdnaseq = 7671 length of protseq = 2556 4828 4902 75 75 1610 1 1634 3 gacgcacacggccagcagatgatcttcccctactacggccgcgaggaggagctgcgcaagcaccccatcaagcgt Total no. of codons in cdna seq = 2557 gac cgt prev t start t-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 7596 ter codon is taa at posn 2532 Protein length after deletion = 2531 Total no. of codons in del cdnaseq = 2532 last codon in array is taa aag (K) cgt (R) gac (D) cgt (R) gcc (A) gcc (A) gag (E) ggc (G) aag (K) cgt (R) gcc (A) gcc (A) gag (E) ggc (G) wild type sequence in deletion region: gac (D) gca (A) cac (H) ggc (G) cag (Q) cag (Q) atg (M) atc (I) ttc (F) ccc (P) tac (Y) tac (Y) ggc (G) cgc (R) gag (E) gag (E) gag (E) ctg (L) cgc (R) aag (K) cac (H) ccc (P) atc (I) aag (K) cgt (R) wt inframe deln region length = 25 first wt aa affected by inframe deletion is : gac (D) 1610 D 1634 R haematopoietic_and_lymphoid_tissue NOTCH1 1 c.4829_4903del75 p.D1610_R1634> length of cdnaseq = 7671 length of protseq = 2556 4829 4903 75 75 1610 2 1635 1 acgcacacggccagcagatgatcttcccctactacggccgcgaggaggagctgcgcaagcaccccatcaagcgtg Total no. of codons in cdna seq = 2557 gac gcc start g-a end g-c g-- -cc gcc (A) length of cdnaseq after deletion = 7596 ter codon is taa at posn 2532 Protein length after deletion = 2531 Total no. of codons in del cdnaseq = 2532 last codon in array is taa aag (K) cgt (R) gac (D) gcc (A) gcc (A) gag (E) ggc (G) tgg (W) aag (K) cgt (R) gcc (A) gcc (A) gag (E) ggc (G) wild type sequence in deletion region: gac (D) gca (A) cac (H) ggc (G) cag (Q) cag (Q) atg (M) atc (I) ttc (F) ccc (P) tac (Y) tac (Y) ggc (G) cgc (R) gag (E) gag (E) gag (E) ctg (L) cgc (R) aag (K) cac (H) ccc (P) atc (I) aag (K) cgt (R) gcc (A) wt inframe deln region length = 26 first wt aa affected by inframe deletion is : gac (D) 1610 D 1634 R > haematopoietic_and_lymphoid_tissue NOTCH1 1 c.4833_4907del75 p.A1611_A1636>A length of cdnaseq = 7671 length of protseq = 2556 4833 4907 75 75 1611 3 1636 2 acacggccagcagatgatcttcccctactacggccgcgaggaggagctgcgcaagcaccccatcaagcgtgccgc Total no. of codons in cdna seq = 2557 gca gcc start c-a end c-c gc- --c gcc (A) length of cdnaseq after deletion = 7596 ter codon is taa at posn 2532 Protein length after deletion = 2531 Total no. of codons in del cdnaseq = 2532 last codon in array is taa cgt (R) gac (D) gca (A) gcc (A) gag (E) ggc (G) tgg (W) gcc (A) cgt (R) gac (D) gcc (A) gag (E) ggc (G) tgg (W) wild type sequence in deletion region: gca (A) cac (H) ggc (G) cag (Q) cag (Q) atg (M) atc (I) ttc (F) ccc (P) tac (Y) tac (Y) ggc (G) cgc (R) gag (E) gag (E) gag (E) ctg (L) cgc (R) aag (K) cac (H) ccc (P) atc (I) aag (K) cgt (R) gcc (A) gcc (A) wt inframe deln region length = 26 first wt aa affected by inframe deletion is : cac (H) 1611 A 1636 A A H A 1 haematopoietic_and_lymphoid_tissue NOTCH1 c.4833_4907del75 p.A1611_A1636>A haematopoietic_and_lymphoid_tissue NOTCH1 1 c.5027_5029delTCG p.I1676_V1677>I length of cdnaseq = 7671 length of protseq = 2556 5027 5029 TCG 3 1676 2 1677 1 tcg Total no. of codons in cdna seq = 2557 atc gtc start a-t end g-t a-- -tc atc (I) length of cdnaseq after deletion = 7668 ter codon is taa at posn 2556 Protein length after deletion = 2555 Total no. of codons in del cdnaseq = 2556 last codon in array is taa ggc (G) tcc (S) atc (I) gtc (V) tac (Y) ctg (L) gag (E) att (I) ggc (G) tcc (S) atc (I) tac (Y) ctg (L) gag (E) wild type sequence in deletion region: atc (I) gtc (V) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gtc (V) 1676 I 1677 V I V I 1 haematopoietic_and_lymphoid_tissue NOTCH1 c.5027_5029delTCG p.I1676_V1677>I haematopoietic_and_lymphoid_tissue NOTCH1 1 c.7234_7236delCCA p.P2412del length of cdnaseq = 7671 length of protseq = 2556 7234 7236 CCA 3 2412 1 2412 3 cca Total no. of codons in cdna seq = 2557 cca cca prev g start g-c post c end a-c --- --- No joining codon length of cdnaseq after deletion = 7668 ter codon is taa at posn 2556 Protein length after deletion = 2555 Total no. of codons in del cdnaseq = 2556 last codon in array is taa cag (Q) ccg (P) cca (P) cca (P) cca (P) cca (P) cca (P) cca (P) cag (Q) ccg (P) cca (P) cca (P) cca (P) cca (P) wild type sequence in deletion region: cca (P) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gtc (V) 2412 P 2412 P - V P 1 haematopoietic_and_lymphoid_tissue NOTCH1 c.7234_7236delCCA p.P2412del haematopoietic_and_lymphoid_tissue NOTCH1 3 c.4852_4854delTTC p.F1618del length of cdnaseq = 7671 length of protseq = 2556 4852 4854 TTC 3 1618 1 1618 3 ttc Total no. of codons in cdna seq = 2557 ttc ttc prev c start c-t post c end c-c --- --- No joining codon length of cdnaseq after deletion = 7668 ter codon is taa at posn 2556 Protein length after deletion = 2555 Total no. of codons in del cdnaseq = 2556 last codon in array is taa atg (M) atc (I) ttc (F) ttc (F) ccc (P) tac (Y) tac (Y) ggc (G) atg (M) atc (I) ccc (P) tac (Y) tac (Y) ggc (G) wild type sequence in deletion region: ttc (F) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : ttc (F) 1618 F 1618 F - soft_tissue PDGFRA 10 c.2524_2535del12 p.D842_H845del length of cdnaseq = 3270 length of protseq = 1089 2524 2535 12 12 842 1 845 3 gacatcatgcat Total no. of codons in cdna seq = 1090 gac cat prev a start a-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 3258 ter codon is taa at posn 1086 Protein length after deletion = 1085 Total no. of codons in del cdnaseq = 1086 last codon in array is taa gcc (A) aga (R) gac (D) cat (H) gat (D) tcg (S) aac (N) tat (Y) gcc (A) aga (R) gat (D) tcg (S) aac (N) tat (Y) wild type sequence in deletion region: gac (D) atc (I) atg (M) cat (H) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : atc (I) 842 D 845 H I D 10 soft_tissue PDGFRA c.2524_2535del12 p.D842_H845del small_intestine PDGFRA 1 c.2524_2535del12 p.D842_H845del length of cdnaseq = 3270 length of protseq = 1089 2524 2535 12 12 842 1 845 3 gacatcatgcat Total no. of codons in cdna seq = 1090 gac cat prev a start a-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 3258 ter codon is taa at posn 1086 Protein length after deletion = 1085 Total no. of codons in del cdnaseq = 1086 last codon in array is taa gcc (A) aga (R) gac (D) cat (H) gat (D) tcg (S) aac (N) tat (Y) gcc (A) aga (R) gat (D) tcg (S) aac (N) tat (Y) wild type sequence in deletion region: gac (D) atc (I) atg (M) cat (H) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : atc (I) 842 D 845 H I D 1 small_intestine PDGFRA c.2524_2535del12 p.D842_H845del soft_tissue PDGFRA 1 c.1698_1712del15 p.S566_E571>R length of cdnaseq = 3270 length of protseq = 1089 1698 1712 15 15 566 3 571 2 cccggatggacatga Total no. of codons in cdna seq = 1090 agc gaa start g-c end a-a ag- --a aga (R) length of cdnaseq after deletion = 3255 ter codon is taa at posn 1085 Protein length after deletion = 1084 Total no. of codons in del cdnaseq = 1085 last codon in array is taa tca (S) atc (I) agc (S) gaa (E) tat (Y) att (I) tat (Y) gtg (V) tca (S) atc (I) aga (R) tat (Y) att (I) tat (Y) wild type sequence in deletion region: agc (S) ccg (P) gat (D) gga (G) cat (H) gaa (E) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : agc (S) 566 S 571 E R soft_tissue PDGFRA 1 c.2521_2526delAGAGAC p.R841_D842del length of cdnaseq = 3270 length of protseq = 1089 2521 2526 AGAGAC 6 841 1 842 3 agagac Total no. of codons in cdna seq = 1090 aga gac prev c start c-a post a end c-a --- --- No joining codon length of cdnaseq after deletion = 3264 ter codon is taa at posn 1088 Protein length after deletion = 1087 Total no. of codons in del cdnaseq = 1088 last codon in array is taa ctg (L) gcc (A) aga (R) gac (D) atc (I) atg (M) cat (H) gat (D) ctg (L) gcc (A) atc (I) atg (M) cat (H) gat (D) wild type sequence in deletion region: aga (R) gac (D) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aga (R) 841 R 842 D soft_tissue PDGFRA 1 c.2524_2526delGAC p.D842del length of cdnaseq = 3270 length of protseq = 1089 2524 2526 GAC 3 842 1 842 3 gac Total no. of codons in cdna seq = 1090 gac gac prev a start a-g post a end c-a --- --- No joining codon length of cdnaseq after deletion = 3267 ter codon is taa at posn 1089 Protein length after deletion = 1088 Total no. of codons in del cdnaseq = 1089 last codon in array is taa gcc (A) aga (R) gac (D) gac (D) atc (I) atg (M) cat (H) gat (D) gcc (A) aga (R) atc (I) atg (M) cat (H) gat (D) wild type sequence in deletion region: gac (D) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gac (D) 842 D 842 D - small_intestine PDGFRA 23 c.1698_1712del15 p.S566_E571>R length of cdnaseq = 3270 length of protseq = 1089 1698 1712 15 15 566 3 571 2 cccggatggacatga Total no. of codons in cdna seq = 1090 agc gaa start g-c end a-a ag- --a aga (R) length of cdnaseq after deletion = 3255 ter codon is taa at posn 1085 Protein length after deletion = 1084 Total no. of codons in del cdnaseq = 1085 last codon in array is taa tca (S) atc (I) agc (S) gaa (E) tat (Y) att (I) tat (Y) gtg (V) tca (S) atc (I) aga (R) tat (Y) att (I) tat (Y) wild type sequence in deletion region: agc (S) ccg (P) gat (D) gga (G) cat (H) gaa (E) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : agc (S) 566 S 571 E R soft_tissue PDGFRA 2 c.1659_1664delGAGGTA p.R554_Y555del length of cdnaseq = 3270 length of protseq = 1089 1659 1664 GAGGTA 6 553 3 555 2 gaggta Total no. of codons in cdna seq = 1090 ccg tat start c-g end a-t cc- --t cct (P) length of cdnaseq after deletion = 3264 ter codon is taa at posn 1088 Protein length after deletion = 1087 Total no. of codons in del cdnaseq = 1088 last codon in array is taa cag (Q) aaa (K) ccg (P) tat (Y) gaa (E) att (I) cgc (R) tgg (W) cag (Q) aaa (K) cct (P) gaa (E) att (I) cgc (R) wild type sequence in deletion region: ccg (P) agg (R) tat (Y) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : agg (R) 554 R 555 Y soft_tissue PDGFRA 2 c.1678_1692del15 p.R560_S564del length of cdnaseq = 3270 length of protseq = 1089 1678 1692 15 15 560 1 564 3 agggtcattgaatca Total no. of codons in cdna seq = 1090 agg tca prev g start g-a post a end a-a --- --- No joining codon length of cdnaseq after deletion = 3255 ter codon is taa at posn 1085 Protein length after deletion = 1084 Total no. of codons in del cdnaseq = 1085 last codon in array is taa cgc (R) tgg (W) agg (R) tca (S) atc (I) agc (S) ccg (P) gat (D) cgc (R) tgg (W) atc (I) agc (S) ccg (P) gat (D) wild type sequence in deletion region: agg (R) gtc (V) att (I) gaa (E) tca (S) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : agg (R) 560 R 564 S soft_tissue PDGFRA 2 c.2524_2532del9 p.D842_M844del length of cdnaseq = 3270 length of protseq = 1089 2524 2532 9 9 842 1 844 3 gacatcatg Total no. of codons in cdna seq = 1090 gac atg prev a start a-g post c end g-c --- --- No joining codon length of cdnaseq after deletion = 3261 ter codon is taa at posn 1087 Protein length after deletion = 1086 Total no. of codons in del cdnaseq = 1087 last codon in array is taa gcc (A) aga (R) gac (D) atg (M) cat (H) gat (D) tcg (S) aac (N) gcc (A) aga (R) cat (H) gat (D) tcg (S) aac (N) wild type sequence in deletion region: gac (D) atc (I) atg (M) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : gac (D) 842 D 844 M soft_tissue PDGFRA 2 c.2530_2541del12 p.M844_S847del length of cdnaseq = 3270 length of protseq = 1089 2530 2541 12 12 844 1 847 3 atgcatgattcg Total no. of codons in cdna seq = 1090 atg tcg prev c start c-a post a end g-a --- --- No joining codon length of cdnaseq after deletion = 3258 ter codon is taa at posn 1086 Protein length after deletion = 1085 Total no. of codons in del cdnaseq = 1086 last codon in array is taa gac (D) atc (I) atg (M) tcg (S) aac (N) tat (Y) gtg (V) tcg (S) gac (D) atc (I) aac (N) tat (Y) gtg (V) tcg (S) wild type sequence in deletion region: atg (M) cat (H) gat (D) tcg (S) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : atg (M) 844 M 847 S small_intestine PDGFRA 3 c.1697_1711del15 p.S566_E571>K length of cdnaseq = 3270 length of protseq = 1089 1697 1711 15 15 566 2 571 1 gcccggatggacatg Total no. of codons in cdna seq = 1090 agc gaa start a-g end g-a a-- -aa aaa (K) length of cdnaseq after deletion = 3255 ter codon is taa at posn 1085 Protein length after deletion = 1084 Total no. of codons in del cdnaseq = 1085 last codon in array is taa tca (S) atc (I) agc (S) gaa (E) tat (Y) att (I) tat (Y) gtg (V) tca (S) atc (I) aaa (K) tat (Y) att (I) tat (Y) wild type sequence in deletion region: agc (S) ccg (P) gat (D) gga (G) cat (H) gaa (E) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : agc (S) 566 S 571 E K soft_tissue PDGFRA 3 c.1697_1711del15 p.S566_E571>K length of cdnaseq = 3270 length of protseq = 1089 1697 1711 15 15 566 2 571 1 gcccggatggacatg Total no. of codons in cdna seq = 1090 agc gaa start a-g end g-a a-- -aa aaa (K) length of cdnaseq after deletion = 3255 ter codon is taa at posn 1085 Protein length after deletion = 1084 Total no. of codons in del cdnaseq = 1085 last codon in array is taa tca (S) atc (I) agc (S) gaa (E) tat (Y) att (I) tat (Y) gtg (V) tca (S) atc (I) aaa (K) tat (Y) att (I) tat (Y) wild type sequence in deletion region: agc (S) ccg (P) gat (D) gga (G) cat (H) gaa (E) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : agc (S) 566 S 571 E K soft_tissue PDGFRA 3 c.2528_2539del12 p.I843_S847>T length of cdnaseq = 3270 length of protseq = 1089 2528 2539 12 12 843 2 847 1 tcatgcatgatt Total no. of codons in cdna seq = 1090 atc tcg start a-t end t-c a-- -cg acg (T) length of cdnaseq after deletion = 3258 ter codon is taa at posn 1086 Protein length after deletion = 1085 Total no. of codons in del cdnaseq = 1086 last codon in array is taa aga (R) gac (D) atc (I) tcg (S) aac (N) tat (Y) gtg (V) tcg (S) aga (R) gac (D) acg (T) aac (N) tat (Y) gtg (V) wild type sequence in deletion region: atc (I) atg (M) cat (H) gat (D) tcg (S) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : atc (I) 843 I 847 S T soft_tissue PDGFRA 8 c.2527_2538del12 p.I843_D846del length of cdnaseq = 3270 length of protseq = 1089 2527 2538 12 12 843 1 846 3 atcatgcatgat Total no. of codons in cdna seq = 1090 atc gat prev c start c-a post t end t-t --- --- No joining codon length of cdnaseq after deletion = 3258 ter codon is taa at posn 1086 Protein length after deletion = 1085 Total no. of codons in del cdnaseq = 1086 last codon in array is taa aga (R) gac (D) atc (I) gat (D) tcg (S) aac (N) tat (Y) gtg (V) aga (R) gac (D) tcg (S) aac (N) tat (Y) gtg (V) wild type sequence in deletion region: atc (I) atg (M) cat (H) gat (D) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : atc (I) 843 I 846 D breast PIK3CA 1 c.1352_1366del15 p.G451_L456>V length of cdnaseq = 3207 length of protseq = 1068 1352 1366 15 15 451 2 456 1 gattagaagatttgc Total no. of codons in cdna seq = 1069 gga ctg start g-g end c-t g-- -tg gtg (V) length of cdnaseq after deletion = 3192 ter codon is tga at posn 1064 Protein length after deletion = 1063 Total no. of codons in del cdnaseq = 1064 last codon in array is tga cct (P) cat (H) gga (G) ctg (L) aac (N) cct (P) att (I) ggt (G) cct (P) cat (H) gtg (V) aac (N) cct (P) att (I) wild type sequence in deletion region: gga (G) tta (L) gaa (E) gat (D) ttg (L) ctg (L) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gga (G) 451 G 456 L V central_nervous_system PIK3CA 1 c.28_48del21 p.L10_M16del length of cdnaseq = 3207 length of protseq = 1068 28 48 21 21 10 1 16 3 ctgtggggcatccacttgatg Total no. of codons in cdna seq = 1069 ctg atg prev a start a-c post c end g-c --- --- No joining codon length of cdnaseq after deletion = 3186 ter codon is tga at posn 1062 Protein length after deletion = 1061 Total no. of codons in del cdnaseq = 1062 last codon in array is tga ggt (G) gaa (E) ctg (L) atg (M) ccc (P) cca (P) aga (R) atc (I) ggt (G) gaa (E) ccc (P) cca (P) aga (R) atc (I) wild type sequence in deletion region: ctg (L) tgg (W) ggc (G) atc (I) cac (H) ttg (L) atg (M) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : ctg (L) 10 L 16 M central_nervous_system PIK3CA 1 c.337_339delCTC p.L113del length of cdnaseq = 3207 length of protseq = 1068 337 339 CTC 3 113 1 113 3 ctc Total no. of codons in cdna seq = 1069 ctc ctc prev c start c-c post a end c-a --- --- No joining codon length of cdnaseq after deletion = 3204 ter codon is tga at posn 1068 Protein length after deletion = 1067 Total no. of codons in del cdnaseq = 1068 last codon in array is tga aag (K) atc (I) ctc (L) ctc (L) aat (N) cga (R) gaa (E) att (I) aag (K) atc (I) aat (N) cga (R) gaa (E) att (I) wild type sequence in deletion region: ctc (L) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : ctc (L) 113 L 113 L - central_nervous_system PIK3CA 1 c.50_52delCCC p.P17del length of cdnaseq = 3207 length of protseq = 1068 50 52 CCC 3 17 2 18 1 ccc Total no. of codons in cdna seq = 1069 ccc cca start c-c end c-c c-- -ca cca (P) length of cdnaseq after deletion = 3204 ter codon is tga at posn 1068 Protein length after deletion = 1067 Total no. of codons in del cdnaseq = 1068 last codon in array is tga ttg (L) atg (M) ccc (P) cca (P) aga (R) atc (I) cta (L) gtg (V) ttg (L) atg (M) cca (P) aga (R) atc (I) cta (L) wild type sequence in deletion region: ccc (P) cca (P) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cca (P) 17 P 17 P - large_intestine PIK3CA 1 c.311_316delCAGTAG p.P104_G106>R length of cdnaseq = 3207 length of protseq = 1068 311 316 CAGTAG 6 104 2 106 1 cagtag Total no. of codons in cdna seq = 1069 cca ggc start c-c end g-g c-- -gc cgc (R) length of cdnaseq after deletion = 3201 ter codon is tga at posn 1067 Protein length after deletion = 1066 Total no. of codons in del cdnaseq = 1067 last codon in array is tga att (I) gaa (E) cca (P) ggc (G) aac (N) cgt (R) gaa (E) gaa (E) att (I) gaa (E) cgc (R) aac (N) cgt (R) gaa (E) wild type sequence in deletion region: cca (P) gta (V) ggc (G) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : cca (P) 104 P 106 G R large_intestine PIK3CA 1 c.321_323delCCG p.R108del length of cdnaseq = 3207 length of protseq = 1068 321 323 CCG 3 107 3 108 2 ccg Total no. of codons in cdna seq = 1069 aac cgt start a-c end g-t aa- --t aat (N) length of cdnaseq after deletion = 3204 ter codon is tga at posn 1068 Protein length after deletion = 1067 Total no. of codons in del cdnaseq = 1068 last codon in array is tga gta (V) ggc (G) aac (N) cgt (R) gaa (E) gaa (E) aag (K) atc (I) gta (V) ggc (G) aat (N) gaa (E) gaa (E) aag (K) wild type sequence in deletion region: aac (N) cgt (R) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cgt (R) 108 R 108 R - large_intestine PIK3CA 1 c.325_327delGAA p.E109del length of cdnaseq = 3207 length of protseq = 1068 325 327 GAA 3 109 1 109 3 gaa Total no. of codons in cdna seq = 1069 gaa gaa prev t start t-g post g end a-g --- --- No joining codon length of cdnaseq after deletion = 3204 ter codon is tga at posn 1068 Protein length after deletion = 1067 Total no. of codons in del cdnaseq = 1068 last codon in array is tga aac (N) cgt (R) gaa (E) gaa (E) gaa (E) aag (K) atc (I) ctc (L) aac (N) cgt (R) gaa (E) aag (K) atc (I) ctc (L) wild type sequence in deletion region: gaa (E) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : cgt (R) 109 E 109 E - R E 1 large_intestine PIK3CA c.325_327delGAA p.E109del large_intestine PIK3CA 1 c.332_334delAGA p.K111del length of cdnaseq = 3207 length of protseq = 1068 332 334 AGA 3 111 2 112 1 aga Total no. of codons in cdna seq = 1069 aag atc start a-a end a-t a-- -tc atc (I) length of cdnaseq after deletion = 3204 ter codon is tga at posn 1068 Protein length after deletion = 1067 Total no. of codons in del cdnaseq = 1068 last codon in array is tga gaa (E) gaa (E) aag (K) atc (I) ctc (L) aat (N) cga (R) gaa (E) gaa (E) gaa (E) atc (I) ctc (L) aat (N) cga (R) wild type sequence in deletion region: aag (K) atc (I) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aag (K) 111 K 111 K - large_intestine PIK3CA 1 c.333_335delGAT p.K111_I112>N length of cdnaseq = 3207 length of protseq = 1068 333 335 GAT 3 111 3 112 2 gat Total no. of codons in cdna seq = 1069 aag atc start a-g end t-c aa- --c aac (N) length of cdnaseq after deletion = 3204 ter codon is tga at posn 1068 Protein length after deletion = 1067 Total no. of codons in del cdnaseq = 1068 last codon in array is tga gaa (E) gaa (E) aag (K) atc (I) ctc (L) aat (N) cga (R) gaa (E) gaa (E) gaa (E) aac (N) ctc (L) aat (N) cga (R) wild type sequence in deletion region: aag (K) atc (I) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aag (K) 111 K 112 I N lung PIK3CA 1 c.316_324del9 p.G106_R108del length of cdnaseq = 3207 length of protseq = 1068 316 324 9 9 106 1 108 3 ggcaaccgt Total no. of codons in cdna seq = 1069 ggc cgt prev a start a-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 3198 ter codon is tga at posn 1066 Protein length after deletion = 1065 Total no. of codons in del cdnaseq = 1066 last codon in array is tga cca (P) gta (V) ggc (G) cgt (R) gaa (E) gaa (E) aag (K) atc (I) cca (P) gta (V) gaa (E) gaa (E) aag (K) atc (I) wild type sequence in deletion region: ggc (G) aac (N) cgt (R) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : ggc (G) 106 G 108 R lung PIK3CA 1 c.317_325del9 p.G106_R108del length of cdnaseq = 3207 length of protseq = 1068 317 325 9 9 106 2 109 1 gcaaccgtg Total no. of codons in cdna seq = 1069 ggc gaa start g-g end g-a g-- -aa gaa (E) length of cdnaseq after deletion = 3198 ter codon is tga at posn 1066 Protein length after deletion = 1065 Total no. of codons in del cdnaseq = 1066 last codon in array is tga cca (P) gta (V) ggc (G) gaa (E) gaa (E) aag (K) atc (I) ctc (L) cca (P) gta (V) gaa (E) gaa (E) aag (K) atc (I) wild type sequence in deletion region: ggc (G) aac (N) cgt (R) gaa (E) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : ggc (G) 106 G 108 R central_nervous_system PIK3R1 1 c.1317_1319delAGA p.E439del length of cdnaseq = 2175 length of protseq = 724 1317 1319 AGA 3 439 3 440 2 aga Total no. of codons in cdna seq = 725 gaa gat start a-a end a-t ga- --t gat (D) length of cdnaseq after deletion = 2172 ter codon is tga at posn 724 Protein length after deletion = 723 Total no. of codons in del cdnaseq = 724 last codon in array is tga gtc (V) aaa (K) gaa (E) gat (D) aat (N) att (I) gaa (E) gct (A) gtc (V) aaa (K) gat (D) aat (N) att (I) gaa (E) wild type sequence in deletion region: gaa (E) gat (D) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gaa (E) 439 E 439 E - central_nervous_system PIK3R1 1 c.1377_1379delAAG p.K459_S460>N length of cdnaseq = 2175 length of protseq = 724 1377 1379 AAG 3 459 3 460 2 aag Total no. of codons in cdna seq = 725 aaa agt start a-a end g-t aa- --t aat (N) length of cdnaseq after deletion = 2172 ter codon is tga at posn 724 Protein length after deletion = 723 Total no. of codons in del cdnaseq = 724 last codon in array is tga caa (Q) gaa (E) aaa (K) agt (S) cga (R) gaa (E) tat (Y) gat (D) caa (Q) gaa (E) aat (N) cga (R) gaa (E) tat (Y) wild type sequence in deletion region: aaa (K) agt (S) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aaa (K) 459 K 460 S N central_nervous_system PIK3R1 1 c.1677_1694del18 p.D560_S565del length of cdnaseq = 2175 length of protseq = 724 1677 1694 18 18 559 3 565 2 tgacaaacgtatgaacag Total no. of codons in cdna seq = 725 att agc start t-t end g-c at- --c atc (I) length of cdnaseq after deletion = 2157 ter codon is tga at posn 719 Protein length after deletion = 718 Total no. of codons in del cdnaseq = 719 last codon in array is tga cga (R) gaa (E) att (I) agc (S) att (I) aaa (K) cca (P) gac (D) cga (R) gaa (E) atc (I) att (I) aaa (K) cca (P) wild type sequence in deletion region: att (I) gac (D) aaa (K) cgt (R) atg (M) aac (N) agc (S) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gac (D) 560 D 565 S central_nervous_system PIK3R1 1 c.1727_1729delCGA p.T576del length of cdnaseq = 2175 length of protseq = 724 1727 1729 CGA 3 576 2 577 1 cga Total no. of codons in cdna seq = 725 acg aga start a-c end a-g a-- -ga aga (R) length of cdnaseq after deletion = 2172 ter codon is tga at posn 724 Protein length after deletion = 723 Total no. of codons in del cdnaseq = 724 last codon in array is tga aga (R) aag (K) acg (T) aga (R) gac (D) caa (Q) tac (Y) ttg (L) aga (R) aag (K) aga (R) gac (D) caa (Q) tac (Y) wild type sequence in deletion region: acg (T) aga (R) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : acg (T) 576 T 576 T - central_nervous_system PIK3R1 1 c.1748_1750delGGT p.W583del length of cdnaseq = 2175 length of protseq = 724 1748 1750 GGT 3 583 2 584 1 ggt Total no. of codons in cdna seq = 725 tgg ttg start t-g end t-t t-- -tg ttg (L) length of cdnaseq after deletion = 2172 ter codon is tga at posn 724 Protein length after deletion = 723 Total no. of codons in del cdnaseq = 724 last codon in array is tga ttg (L) atg (M) tgg (W) ttg (L) act (T) caa (Q) aaa (K) ggt (G) ttg (L) atg (M) ttg (L) act (T) caa (Q) aaa (K) wild type sequence in deletion region: tgg (W) ttg (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : tgg (W) 583 W 583 W - central_nervous_system PTCH1 1 c.1456_1461delGGCCTG p.G486_L487del length of cdnaseq = 4344 length of protseq = 1447 1456 1461 GGCCTG 6 486 1 487 3 ggcctg Total no. of codons in cdna seq = 1448 ggc ctg prev g start g-g post t end g-t --- --- No joining codon length of cdnaseq after deletion = 4338 ter codon is tga at posn 1446 Protein length after deletion = 1445 Total no. of codons in del cdnaseq = 1446 last codon in array is tga gga (G) ctg (L) ggc (G) ctg (L) tgc (C) tca (S) ttg (L) atc (I) gga (G) ctg (L) tgc (C) tca (S) ttg (L) atc (I) wild type sequence in deletion region: ggc (G) ctg (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ggc (G) 486 G 487 L central_nervous_system PTCH1 1 c.3169_3306del138 p.V1057_L1102del length of cdnaseq = 4344 length of protseq = 1447 3169 3306 138 138 1057 1 1102 3 gtgatggtcctggcgctgatgacggtcgagctgttcggcatgatgggcctcatcggaatcaagctcagtgccgtgcccgtggtcatcctgatcgcttctgttggcataggagtggagttcaccgttcacgttgctttg Total no. of codons in cdna seq = 1448 gtg ttg prev t start t-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 4206 ter codon is tga at posn 1402 Protein length after deletion = 1401 Total no. of codons in del cdnaseq = 1402 last codon in array is tga atc (I) att (I) gtg (V) ttg (L) gcc (A) ttt (F) ctg (L) acg (T) atc (I) att (I) gcc (A) ttt (F) ctg (L) acg (T) wild type sequence in deletion region: gtg (V) atg (M) gtc (V) ctg (L) gcg (A) ctg (L) atg (M) acg (T) gtc (V) gag (E) ctg (L) ttc (F) ggc (G) atg (M) atg (M) ggc (G) ctc (L) atc (I) gga (G) atc (I) aag (K) ctc (L) agt (S) gcc (A) gtg (V) ccc (P) gtg (V) gtc (V) atc (I) ctg (L) atc (I) gct (A) tct (S) gtt (V) ggc (G) ata (I) gga (G) gtg (V) gag (E) ttc (F) acc (T) gtt (V) cac (H) gtt (V) gct (A) ttg (L) wt inframe deln region length = 46 first wt aa affected by inframe deletion is : gtg (V) 1057 V 1102 L skin PTCH1 1 c.1703_1711del9 p.P568_L570del length of cdnaseq = 4344 length of protseq = 1447 1703 1711 9 9 568 2 571 1 ccgctctgc Total no. of codons in cdna seq = 1448 ccc cgg start c-c end c-g c-- -gg cgg (R) length of cdnaseq after deletion = 4335 ter codon is tga at posn 1445 Protein length after deletion = 1444 Total no. of codons in del cdnaseq = 1445 last codon in array is tga cca (P) att (I) ccc (P) cgg (R) gcg (A) ttc (F) tcc (S) ctc (L) cca (P) att (I) cgg (R) gcg (A) ttc (F) tcc (S) wild type sequence in deletion region: ccc (P) gct (A) ctg (L) cgg (R) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : ccc (P) 568 P 570 L skin PTCH1 1 c.2385_2399del15 p.K796_F800del length of cdnaseq = 4344 length of protseq = 1447 2385 2399 15 15 795 3 800 2 caaatacttttcttt Total no. of codons in cdna seq = 1448 ttc ttc start t-c end t-c tt- --c ttc (F) length of cdnaseq after deletion = 4329 ter codon is tga at posn 1443 Protein length after deletion = 1442 Total no. of codons in del cdnaseq = 1443 last codon in array is tga gca (A) caa (Q) ttc (F) ttc (F) tac (Y) aac (N) atg (M) tat (Y) gca (A) caa (Q) ttc (F) tac (Y) aac (N) atg (M) wild type sequence in deletion region: ttc (F) aaa (K) tac (Y) ttt (F) tct (S) ttc (F) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : aaa (K) 796 K 800 F skin PTCH1 1 c.3856_3867del12 p.P1286_D1289del length of cdnaseq = 4344 length of protseq = 1447 3856 3867 12 12 1286 1 1289 3 ccccacctggac Total no. of codons in cdna seq = 1448 ccc gac prev g start g-c post t end c-t --- --- No joining codon length of cdnaseq after deletion = 4332 ter codon is tga at posn 1444 Protein length after deletion = 1443 Total no. of codons in del cdnaseq = 1444 last codon in array is tga cag (Q) cag (Q) ccc (P) gac (D) tca (S) ggg (G) tcc (S) ctg (L) cag (Q) cag (Q) tca (S) ggg (G) tcc (S) ctg (L) wild type sequence in deletion region: ccc (P) cac (H) ctg (L) gac (D) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : ccc (P) 1286 P 1289 D breast PTEN 1 c.403_405delATA p.I135del length of cdnaseq = 1212 length of protseq = 403 403 405 ATA 3 135 1 135 3 ata Total no. of codons in cdna seq = 404 ata ata prev g start g-a post t end a-t --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga gta (V) atg (M) ata (I) ata (I) tgt (C) gca (A) tat (Y) tta (L) gta (V) atg (M) tgt (C) gca (A) tat (Y) tta (L) wild type sequence in deletion region: ata (I) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : ata (I) 135 I 135 I - breast PTEN 1 c.710_718del9 p.K237_Y240>N length of cdnaseq = 1212 length of protseq = 403 710 718 9 9 237 2 240 1 agttcatgt Total no. of codons in cdna seq = 404 aag tac start a-a end t-a a-- -ac aac (N) length of cdnaseq after deletion = 1203 ter codon is tga at posn 401 Protein length after deletion = 400 Total no. of codons in del cdnaseq = 401 last codon in array is tga gaa (E) gac (D) aag (K) tac (Y) ttt (F) gag (E) ttc (F) cct (P) gaa (E) gac (D) aac (N) ttt (F) gag (E) ttc (F) wild type sequence in deletion region: aag (K) ttc (F) atg (M) tac (Y) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : aag (K) 237 K 240 Y N central_nervous_system PTEN 1 c.199_201delATA p.I67del length of cdnaseq = 1212 length of protseq = 403 199 201 ATA 3 67 1 67 3 ata Total no. of codons in cdna seq = 404 ata ata prev g start g-a post t end a-t --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga tac (Y) aag (K) ata (I) ata (I) tac (Y) aat (N) ctt (L) tgt (C) tac (Y) aag (K) tac (Y) aat (N) ctt (L) tgt (C) wild type sequence in deletion region: ata (I) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : ata (I) 67 I 67 I - central_nervous_system PTEN 1 c.226_228delTAT p.Y76del length of cdnaseq = 1212 length of protseq = 403 226 228 TAT 3 76 1 76 3 tat Total no. of codons in cdna seq = 404 tat tat prev t start t-t post g end t-g --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga aga (R) cat (H) tat (Y) tat (Y) gac (D) acc (T) gcc (A) aaa (K) aga (R) cat (H) gac (D) acc (T) gcc (A) aaa (K) wild type sequence in deletion region: tat (Y) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tat (Y) 76 Y 76 Y - central_nervous_system PTEN 1 c.301_303delATC p.I101del length of cdnaseq = 1212 length of protseq = 403 301 303 ATC 3 101 1 101 3 atc Total no. of codons in cdna seq = 404 atc atc prev t start t-a post a end c-a --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga gaa (E) ctt (L) atc (I) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) ctt (L) aaa (K) ccc (P) ttt (F) tgt (C) wild type sequence in deletion region: atc (I) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : atc (I) 101 I 101 I - central_nervous_system PTEN 1 c.404_409delTATGTG p.I135_A137>T length of cdnaseq = 1212 length of protseq = 403 404 409 TATGTG 6 135 2 137 1 tatgtg Total no. of codons in cdna seq = 404 ata gca start a-t end g-c a-- -ca aca (T) length of cdnaseq after deletion = 1206 ter codon is tga at posn 402 Protein length after deletion = 401 Total no. of codons in del cdnaseq = 402 last codon in array is tga gta (V) atg (M) ata (I) gca (A) tat (Y) tta (L) tta (L) cat (H) gta (V) atg (M) aca (T) tat (Y) tta (L) tta (L) wild type sequence in deletion region: ata (I) tgt (C) gca (A) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : ata (I) 135 I 137 A T central_nervous_system PTEN 1 c.493_495delGGA p.G165del length of cdnaseq = 1212 length of protseq = 403 493 495 GGA 3 165 1 165 3 gga Total no. of codons in cdna seq = 404 gga gga prev g start g-g post g end a-g --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga aaa (K) aag (K) gga (G) gga (G) gta (V) act (T) att (I) ccc (P) aaa (K) aag (K) gta (V) act (T) att (I) ccc (P) wild type sequence in deletion region: gga (G) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gga (G) 165 G 165 G - central_nervous_system PTEN 1 c.526_528delTAT p.Y176del length of cdnaseq = 1212 length of protseq = 403 526 528 TAT 3 176 1 176 3 tat Total no. of codons in cdna seq = 404 tat tat prev g start g-t post t end t-t --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) tat (Y) gtg (V) tat (Y) tat (Y) agc (S) tac (Y) wild type sequence in deletion region: tat (Y) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tgt (C) 176 Y 176 Y - C Y 1 central_nervous_system PTEN c.526_528delTAT p.Y176del central_nervous_system PTEN 1 c.577_579delCTG p.L193del length of cdnaseq = 1212 length of protseq = 403 577 579 CTG 3 193 1 193 3 ctg Total no. of codons in cdna seq = 404 ctg ctg prev a start a-c post t end g-t --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga gtg (V) gca (A) ctg (L) ctg (L) ttg (L) ttt (F) cac (H) aag (K) gtg (V) gca (A) ttg (L) ttt (F) cac (H) aag (K) wild type sequence in deletion region: ctg (L) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tgt (C) 193 L 193 L - C L 1 central_nervous_system PTEN c.577_579delCTG p.L193del central_nervous_system PTEN 1 c.594_596delGAT p.M199del length of cdnaseq = 1212 length of protseq = 403 594 596 GAT 3 198 3 199 2 gat Total no. of codons in cdna seq = 404 atg atg start t-g end t-g at- --g atg (M) length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cac (H) aag (K) atg (M) ttt (F) gaa (E) act (T) wild type sequence in deletion region: atg (M) atg (M) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : atg (M) 199 M 199 M - central_nervous_system PTEN 1 c.69_74delAGACTT p.D24_L25del length of cdnaseq = 1212 length of protseq = 403 69 74 AGACTT 6 23 3 25 2 agactt Total no. of codons in cdna seq = 404 tta ttg start t-a end t-g tt- --g ttg (L) length of cdnaseq after deletion = 1206 ter codon is tga at posn 402 Protein length after deletion = 401 Total no. of codons in del cdnaseq = 402 last codon in array is tga ttc (F) gac (D) tta (L) ttg (L) acc (T) tat (Y) att (I) tat (Y) ttc (F) gac (D) ttg (L) acc (T) tat (Y) att (I) wild type sequence in deletion region: tta (L) gac (D) ttg (L) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : gac (D) 24 D 25 L central_nervous_system PTEN 1 c.820_1023del204 p.W274_F341del length of cdnaseq = 1212 length of protseq = 403 820 1023 204 204 274 1 341 3 tgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaatttt Total no. of codons in cdna seq = 404 tgg ttt prev t start t-t post a end t-a --- --- No joining codon length of cdnaseq after deletion = 1008 ter codon is tga at posn 336 Protein length after deletion = 335 Total no. of codons in del cdnaseq = 336 last codon in array is tga cac (H) ttt (F) tgg (W) ttt (F) aag (K) gtg (V) aag (K) ctg (L) cac (H) ttt (F) aag (K) gtg (V) aag (K) ctg (L) wild type sequence in deletion region: tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) wt inframe deln region length = 68 first wt aa affected by inframe deletion is : tgg (W) 274 W 341 F endometrium PTEN 1 c.151_153delGAT p.D51del length of cdnaseq = 1212 length of protseq = 403 151 153 GAT 3 51 1 51 3 gat Total no. of codons in cdna seq = 404 gat gat prev t start t-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga aat (N) att (I) gat (D) gat (D) gat (D) gta (V) gta (V) agg (R) aat (N) att (I) gat (D) gta (V) gta (V) agg (R) wild type sequence in deletion region: gat (D) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gta (V) 51 D 51 D - V D 1 endometrium PTEN c.151_153delGAT p.D51del endometrium PTEN 1 c.165_209del45 p.R55_L70>S length of cdnaseq = 1212 length of protseq = 403 165 209 45 45 55 3 70 2 gtttttggattcaaagcataaaaaccattacaagatatacaatct Total no. of codons in cdna seq = 404 agg ctt start g-g end t-t ag- --t agt (S) length of cdnaseq after deletion = 1167 ter codon is tga at posn 389 Protein length after deletion = 388 Total no. of codons in del cdnaseq = 389 last codon in array is tga gta (V) gta (V) agg (R) ctt (L) tgt (C) gct (A) gaa (E) aga (R) gta (V) gta (V) agt (S) tgt (C) gct (A) gaa (E) wild type sequence in deletion region: agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) wt inframe deln region length = 16 first wt aa affected by inframe deletion is : agg (R) 55 R 70 L S endometrium PTEN 1 c.257_286del30 p.Q87_P96del length of cdnaseq = 1212 length of protseq = 403 257 286 30 30 86 2 96 1 cacaatatccttttgaagaccataacccac Total no. of codons in cdna seq = 404 gca cca start g-c end c-c g-- -ca gca (A) length of cdnaseq after deletion = 1182 ter codon is tga at posn 394 Protein length after deletion = 393 Total no. of codons in del cdnaseq = 394 last codon in array is tga aga (R) gtt (V) gca (A) cca (P) cag (Q) cta (L) gaa (E) ctt (L) aga (R) gtt (V) gca (A) cag (Q) cta (L) gaa (E) wild type sequence in deletion region: gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) wt inframe deln region length = 11 first wt aa affected by inframe deletion is : caa (Q) 87 Q 96 P endometrium PTEN 1 c.361_435del75 p.A121_F145del length of cdnaseq = 1212 length of protseq = 403 361 435 75 75 121 1 145 3 gcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaattt Total no. of codons in cdna seq = 404 gca ttt prev a start a-g post t end t-t --- --- No joining codon length of cdnaseq after deletion = 1137 ter codon is tga at posn 379 Protein length after deletion = 378 Total no. of codons in del cdnaseq = 379 last codon in array is tga gtt (V) gca (A) gca (A) ttt (F) tta (L) aag (K) gca (A) caa (Q) gtt (V) gca (A) tta (L) aag (K) gca (A) caa (Q) wild type sequence in deletion region: gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) wt inframe deln region length = 25 first wt aa affected by inframe deletion is : gca (A) 121 A 145 F endometrium PTEN 1 c.382_390del9 p.K128_R130del length of cdnaseq = 1212 length of protseq = 403 382 390 9 9 128 1 130 3 aagggacga Total no. of codons in cdna seq = 404 aag cga prev a start a-a post a end a-a --- --- No joining codon length of cdnaseq after deletion = 1203 ter codon is tga at posn 401 Protein length after deletion = 400 Total no. of codons in del cdnaseq = 401 last codon in array is tga gct (A) gga (G) aag (K) cga (R) act (T) ggt (G) gta (V) atg (M) gct (A) gga (G) act (T) ggt (G) gta (V) atg (M) wild type sequence in deletion region: aag (K) gga (G) cga (R) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : aag (K) 128 K 130 R endometrium PTEN 1 c.38_40delAAA p.K13del length of cdnaseq = 1212 length of protseq = 403 38 40 AAA 3 13 2 14 1 aaa Total no. of codons in cdna seq = 404 aaa agg start a-a end a-g a-- -gg agg (R) length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga aga (R) aac (N) aaa (K) agg (R) aga (R) tat (Y) caa (Q) gag (E) aga (R) aac (N) agg (R) aga (R) tat (Y) caa (Q) wild type sequence in deletion region: aaa (K) agg (R) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aaa (K) 13 K 13 K - endometrium PTEN 1 c.39_65del27 p.R14_D22del length of cdnaseq = 1212 length of protseq = 403 39 65 27 27 13 3 22 2 aaggagatatcaagaggatggattcga Total no. of codons in cdna seq = 404 aaa gac start a-a end a-c aa- --c aac (N) length of cdnaseq after deletion = 1185 ter codon is tga at posn 395 Protein length after deletion = 394 Total no. of codons in del cdnaseq = 395 last codon in array is tga aga (R) aac (N) aaa (K) gac (D) tta (L) gac (D) ttg (L) acc (T) aga (R) aac (N) aac (N) tta (L) gac (D) ttg (L) wild type sequence in deletion region: aaa (K) agg (R) aga (R) tat (Y) caa (Q) gag (E) gat (D) gga (G) ttc (F) gac (D) wt inframe deln region length = 10 first wt aa affected by inframe deletion is : aaa (K) 14 R 22 D K R 1 endometrium PTEN c.39_65del27 p.R14_D22del endometrium PTEN 1 c.433_438delTTTTTA p.F145_L146del length of cdnaseq = 1212 length of protseq = 403 433 438 TTTTTA 6 145 1 146 3 ttttta Total no. of codons in cdna seq = 404 ttt tta prev a start a-t post a end a-a --- --- No joining codon length of cdnaseq after deletion = 1206 ter codon is tga at posn 402 Protein length after deletion = 401 Total no. of codons in del cdnaseq = 402 last codon in array is tga ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) ggc (G) aaa (K) aag (K) gca (A) caa (Q) gag (E) wild type sequence in deletion region: ttt (F) tta (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ttt (F) 145 F 146 L endometrium PTEN 1 c.526_528delTAT p.Y176del length of cdnaseq = 1212 length of protseq = 403 526 528 TAT 3 176 1 176 3 tat Total no. of codons in cdna seq = 404 tat tat prev g start g-t post t end t-t --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) tat (Y) gtg (V) tat (Y) tat (Y) agc (S) tac (Y) wild type sequence in deletion region: tat (Y) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tta (L) 176 Y 176 Y - L Y 1 endometrium PTEN c.526_528delTAT p.Y176del endometrium PTEN 1 c.594_596delGAT p.M199del length of cdnaseq = 1212 length of protseq = 403 594 596 GAT 3 198 3 199 2 gat Total no. of codons in cdna seq = 404 atg atg start t-g end t-g at- --g atg (M) length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cac (H) aag (K) atg (M) ttt (F) gaa (E) act (T) wild type sequence in deletion region: atg (M) atg (M) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : atg (M) 199 M 199 M - endometrium PTEN 1 c.94_96delATT p.I32del length of cdnaseq = 1212 length of protseq = 403 94 96 ATT 3 32 1 32 3 att Total no. of codons in cdna seq = 404 att att prev c start c-a post a end t-a --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga cca (P) aac (N) att (I) att (I) att (I) gct (A) atg (M) gga (G) cca (P) aac (N) att (I) gct (A) atg (M) gga (G) wild type sequence in deletion region: att (I) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : atg (M) 32 I 32 I - M I 1 endometrium PTEN c.94_96delATT p.I32del endometrium PTEN 1 c.976_1026del55 p.D326_K342del length of cdnaseq = 1212 length of protseq = 403 976 1026 55 55 326 1 342 3 gacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaag Total no. of codons in cdna seq = 404 gac aag prev t start t-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 1161 ter codon is tga at posn 387 Protein length after deletion = 386 Total no. of codons in del cdnaseq = 387 last codon in array is tga gat (D) ctt (L) gac (D) aag (K) gtg (V) aag (K) ctg (L) tac (Y) gat (D) ctt (L) gtg (V) aag (K) ctg (L) tac (Y) wild type sequence in deletion region: gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) wt inframe deln region length = 17 first wt aa affected by inframe deletion is : gac (D) 326 D 342 K endometrium PTEN 1 c.97_99delATT p.I33del length of cdnaseq = 1212 length of protseq = 403 97 99 ATT 3 33 1 33 3 att Total no. of codons in cdna seq = 404 att att prev t start t-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga aac (N) att (I) att (I) att (I) gct (A) atg (M) gga (G) ttt (F) aac (N) att (I) gct (A) atg (M) gga (G) ttt (F) wild type sequence in deletion region: att (I) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : att (I) 33 I 33 I - haematopoietic_and_lymphoid_tissue PTEN 1 c.1_1212del1212 p.M1_*404del length of cdnaseq = 1212 length of protseq = 403 1 1212 1212 1212 1 1 404 3 atgacagccatcatcaaagagatcgttagcagaaacaaaaggagatatcaagaggatggattcgacttagacttgacctatatttatccaaacattattgctatgggatttcctgcagaaagacttgaaggcgtatacaggaacaatattgatgatgtagtaaggtttttggattcaaagcataaaaaccattacaagatatacaatctttgtgctgaaagacattatgacaccgccaaatttaattgcagagttgcacaatatccttttgaagaccataacccaccacagctagaacttatcaaacccttttgtgaagatcttgaccaatggctaagtgaagatgacaatcatgttgcagcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaatttttaaaggcacaagaggccctagatttctatggggaagtaaggaccagagacaaaaagggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaacttgcaatcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) aca (T) gcc (A) atc (I) atc (I) aaa (K) gag (E) atc (I) gtt (V) agc (S) aga (R) aac (N) aaa (K) agg (R) aga (R) tat (Y) caa (Q) gag (E) gat (D) gga (G) ttc (F) gac (D) tta (L) gac (D) ttg (L) acc (T) tat (Y) att (I) tat (Y) cca (P) aac (N) att (I) att (I) gct (A) atg (M) gga (G) ttt (F) cct (P) gca (A) gaa (E) aga (R) ctt (L) gaa (E) ggc (G) gta (V) tac (Y) agg (R) aac (N) aat (N) att (I) gat (D) gat (D) gta (V) gta (V) agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) gat (D) ctt (L) gac (D) caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) gat (D) ttc (F) tat (Y) ggg (G) gaa (E) gta (V) agg (R) acc (T) aga (R) gac (D) aaa (K) aag (K) gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt inframe deln region length = 404 first wt aa affected by inframe deletion is : atg (M) 1 M 404 * lung PTEN 1 c.244_285del42 p.N82_P95del length of cdnaseq = 1212 length of protseq = 403 244 285 42 42 82 1 95 3 aattgcagagttgcacaatatccttttgaagaccataaccca Total no. of codons in cdna seq = 404 aat cca prev t start t-a post c end a-c --- --- No joining codon length of cdnaseq after deletion = 1170 ter codon is tga at posn 390 Protein length after deletion = 389 Total no. of codons in del cdnaseq = 390 last codon in array is tga aaa (K) ttt (F) aat (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) aaa (K) ttt (F) cca (P) cag (Q) cta (L) gaa (E) wild type sequence in deletion region: aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) wt inframe deln region length = 14 first wt aa affected by inframe deletion is : aat (N) 82 N 95 P skin PTEN 1 c.493_1212del720 p.G165_*404del length of cdnaseq = 1212 length of protseq = 403 493 1212 720 720 165 1 404 3 ggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaacttgcaatcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 gga tga prev g start g-g deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 492 Total no. of codons in del cdnaseq = 164 last codon in array is aag No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 164 aaa (K) aag (K) gga (G) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) aaa (K) aag (K) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt inframe deln region length = 240 first wt aa affected by inframe deletion is : gga (G) 165 G 404 * skin PTEN 1 c.949_966del18 p.V317_K322del length of cdnaseq = 1212 length of protseq = 403 949 966 18 18 317 1 322 3 gtacttactttaacaaaa Total no. of codons in cdna seq = 404 gta aaa prev a start a-g post a end a-a --- --- No joining codon length of cdnaseq after deletion = 1194 ter codon is tga at posn 398 Protein length after deletion = 397 Total no. of codons in del cdnaseq = 398 last codon in array is tga tat (Y) cta (L) gta (V) aaa (K) aat (N) gat (D) ctt (L) gac (D) tat (Y) cta (L) aat (N) gat (D) ctt (L) gac (D) wild type sequence in deletion region: gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : gta (V) 317 V 322 K soft_tissue PTEN 1 c.1_1212del1212 p.M1_*404del length of cdnaseq = 1212 length of protseq = 403 1 1212 1212 1212 1 1 404 3 atgacagccatcatcaaagagatcgttagcagaaacaaaaggagatatcaagaggatggattcgacttagacttgacctatatttatccaaacattattgctatgggatttcctgcagaaagacttgaaggcgtatacaggaacaatattgatgatgtagtaaggtttttggattcaaagcataaaaaccattacaagatatacaatctttgtgctgaaagacattatgacaccgccaaatttaattgcagagttgcacaatatccttttgaagaccataacccaccacagctagaacttatcaaacccttttgtgaagatcttgaccaatggctaagtgaagatgacaatcatgttgcagcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaatttttaaaggcacaagaggccctagatttctatggggaagtaaggaccagagacaaaaagggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaacttgcaatcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) aca (T) gcc (A) atc (I) atc (I) aaa (K) gag (E) atc (I) gtt (V) agc (S) aga (R) aac (N) aaa (K) agg (R) aga (R) tat (Y) caa (Q) gag (E) gat (D) gga (G) ttc (F) gac (D) tta (L) gac (D) ttg (L) acc (T) tat (Y) att (I) tat (Y) cca (P) aac (N) att (I) att (I) gct (A) atg (M) gga (G) ttt (F) cct (P) gca (A) gaa (E) aga (R) ctt (L) gaa (E) ggc (G) gta (V) tac (Y) agg (R) aac (N) aat (N) att (I) gat (D) gat (D) gta (V) gta (V) agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) gat (D) ctt (L) gac (D) caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) gat (D) ttc (F) tat (Y) ggg (G) gaa (E) gta (V) agg (R) acc (T) aga (R) gac (D) aaa (K) aag (K) gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt inframe deln region length = 404 first wt aa affected by inframe deletion is : atg (M) 1 M 404 * stomach PTEN 1 c.223_234del12 p.H75_T78del length of cdnaseq = 1212 length of protseq = 403 223 234 12 12 75 1 78 3 cattatgacacc Total no. of codons in cdna seq = 404 cat acc prev a start a-c post g end c-g --- --- No joining codon length of cdnaseq after deletion = 1200 ter codon is tga at posn 400 Protein length after deletion = 399 Total no. of codons in del cdnaseq = 400 last codon in array is tga gaa (E) aga (R) cat (H) acc (T) gcc (A) aaa (K) ttt (F) aat (N) gaa (E) aga (R) gcc (A) aaa (K) ttt (F) aat (N) wild type sequence in deletion region: cat (H) tat (Y) gac (D) acc (T) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : cat (H) 75 H 78 T urinary_tract PTEN 1 c.1_1212del1212 p.M1_*404del length of cdnaseq = 1212 length of protseq = 403 1 1212 1212 1212 1 1 404 3 atgacagccatcatcaaagagatcgttagcagaaacaaaaggagatatcaagaggatggattcgacttagacttgacctatatttatccaaacattattgctatgggatttcctgcagaaagacttgaaggcgtatacaggaacaatattgatgatgtagtaaggtttttggattcaaagcataaaaaccattacaagatatacaatctttgtgctgaaagacattatgacaccgccaaatttaattgcagagttgcacaatatccttttgaagaccataacccaccacagctagaacttatcaaacccttttgtgaagatcttgaccaatggctaagtgaagatgacaatcatgttgcagcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaatttttaaaggcacaagaggccctagatttctatggggaagtaaggaccagagacaaaaagggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaacttgcaatcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) aca (T) gcc (A) atc (I) atc (I) aaa (K) gag (E) atc (I) gtt (V) agc (S) aga (R) aac (N) aaa (K) agg (R) aga (R) tat (Y) caa (Q) gag (E) gat (D) gga (G) ttc (F) gac (D) tta (L) gac (D) ttg (L) acc (T) tat (Y) att (I) tat (Y) cca (P) aac (N) att (I) att (I) gct (A) atg (M) gga (G) ttt (F) cct (P) gca (A) gaa (E) aga (R) ctt (L) gaa (E) ggc (G) gta (V) tac (Y) agg (R) aac (N) aat (N) att (I) gat (D) gat (D) gta (V) gta (V) agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) gat (D) ctt (L) gac (D) caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) gat (D) ttc (F) tat (Y) ggg (G) gaa (E) gta (V) agg (R) acc (T) aga (R) gac (D) aaa (K) aag (K) gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt inframe deln region length = 404 first wt aa affected by inframe deletion is : atg (M) 1 M 404 * central_nervous_system PTEN 2 c.49_51delCAA p.Q17del length of cdnaseq = 1212 length of protseq = 403 49 51 CAA 3 17 1 17 3 caa Total no. of codons in cdna seq = 404 caa caa prev t start t-c post g end a-g --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga aga (R) tat (Y) caa (Q) caa (Q) gag (E) gat (D) gga (G) ttc (F) aga (R) tat (Y) gag (E) gat (D) gga (G) ttc (F) wild type sequence in deletion region: caa (Q) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : caa (Q) 17 Q 17 Q - central_nervous_system PTEN 2 c.94_96delATT p.I32del length of cdnaseq = 1212 length of protseq = 403 94 96 ATT 3 32 1 32 3 att Total no. of codons in cdna seq = 404 att att prev c start c-a post a end t-a --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga cca (P) aac (N) att (I) att (I) att (I) gct (A) atg (M) gga (G) cca (P) aac (N) att (I) gct (A) atg (M) gga (G) wild type sequence in deletion region: att (I) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : aca (T) 32 I 32 I - T I 2 central_nervous_system PTEN c.94_96delATT p.I32del central_nervous_system PTEN 2 c.955_957delACT p.T319del length of cdnaseq = 1212 length of protseq = 403 955 957 ACT 3 319 1 319 3 act Total no. of codons in cdna seq = 404 act act prev t start t-a post t end t-t --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga gta (V) ctt (L) act (T) act (T) tta (L) aca (T) aaa (K) aat (N) gta (V) ctt (L) tta (L) aca (T) aaa (K) aat (N) wild type sequence in deletion region: act (T) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : act (T) 319 T 319 T - endometrium PTEN 2 c.154_156delGAT p.D52del length of cdnaseq = 1212 length of protseq = 403 154 156 GAT 3 52 1 52 3 gat Total no. of codons in cdna seq = 404 gat gat prev t start t-g post g end t-g --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga att (I) gat (D) gat (D) gat (D) gta (V) gta (V) agg (R) ttt (F) att (I) gat (D) gta (V) gta (V) agg (R) ttt (F) wild type sequence in deletion region: gat (D) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gat (D) 52 D 52 D - endometrium PTEN 2 c.321_326delTCTTGA p.L108_D109del length of cdnaseq = 1212 length of protseq = 403 321 326 TCTTGA 6 107 3 109 2 tcttga Total no. of codons in cdna seq = 404 gat gac start a-t end a-c ga- --c gac (D) length of cdnaseq after deletion = 1206 ter codon is tga at posn 402 Protein length after deletion = 401 Total no. of codons in del cdnaseq = 402 last codon in array is tga tgt (C) gaa (E) gat (D) gac (D) caa (Q) tgg (W) cta (L) agt (S) tgt (C) gaa (E) gac (D) caa (Q) tgg (W) cta (L) wild type sequence in deletion region: gat (D) ctt (L) gac (D) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : ctt (L) 108 L 109 D lung PTEN 2 c.1_1212del1212 p.M1_*404del length of cdnaseq = 1212 length of protseq = 403 1 1212 1212 1212 1 1 404 3 atgacagccatcatcaaagagatcgttagcagaaacaaaaggagatatcaagaggatggattcgacttagacttgacctatatttatccaaacattattgctatgggatttcctgcagaaagacttgaaggcgtatacaggaacaatattgatgatgtagtaaggtttttggattcaaagcataaaaaccattacaagatatacaatctttgtgctgaaagacattatgacaccgccaaatttaattgcagagttgcacaatatccttttgaagaccataacccaccacagctagaacttatcaaacccttttgtgaagatcttgaccaatggctaagtgaagatgacaatcatgttgcagcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaatttttaaaggcacaagaggccctagatttctatggggaagtaaggaccagagacaaaaagggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaacttgcaatcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) aca (T) gcc (A) atc (I) atc (I) aaa (K) gag (E) atc (I) gtt (V) agc (S) aga (R) aac (N) aaa (K) agg (R) aga (R) tat (Y) caa (Q) gag (E) gat (D) gga (G) ttc (F) gac (D) tta (L) gac (D) ttg (L) acc (T) tat (Y) att (I) tat (Y) cca (P) aac (N) att (I) att (I) gct (A) atg (M) gga (G) ttt (F) cct (P) gca (A) gaa (E) aga (R) ctt (L) gaa (E) ggc (G) gta (V) tac (Y) agg (R) aac (N) aat (N) att (I) gat (D) gat (D) gta (V) gta (V) agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) gat (D) ctt (L) gac (D) caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) gat (D) ttc (F) tat (Y) ggg (G) gaa (E) gta (V) agg (R) acc (T) aga (R) gac (D) aaa (K) aag (K) gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt inframe deln region length = 404 first wt aa affected by inframe deletion is : atg (M) 1 M 404 * ovary PTEN 2 c.383_391del9 p.K128_R130del length of cdnaseq = 1212 length of protseq = 403 383 391 9 9 128 2 131 1 agggacgaa Total no. of codons in cdna seq = 404 aag act start a-a end a-c a-- -ct act (T) length of cdnaseq after deletion = 1203 ter codon is tga at posn 401 Protein length after deletion = 400 Total no. of codons in del cdnaseq = 401 last codon in array is tga gct (A) gga (G) aag (K) act (T) ggt (G) gta (V) atg (M) ata (I) gct (A) gga (G) act (T) ggt (G) gta (V) atg (M) wild type sequence in deletion region: aag (K) gga (G) cga (R) act (T) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : aag (K) 128 K 130 R central_nervous_system PTEN 3 c.592_594delATG p.M198del length of cdnaseq = 1212 length of protseq = 403 592 594 ATG 3 198 1 198 3 atg Total no. of codons in cdna seq = 404 atg atg prev g start g-a post a end g-a --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga cac (H) aag (K) atg (M) atg (M) atg (M) ttt (F) gaa (E) act (T) cac (H) aag (K) atg (M) ttt (F) gaa (E) act (T) wild type sequence in deletion region: atg (M) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gga (G) 198 M 198 M - G M 3 central_nervous_system PTEN c.592_594delATG p.M198del central_nervous_system PTEN 3 c.595_597delATG p.M199del length of cdnaseq = 1212 length of protseq = 403 595 597 ATG 3 199 1 199 3 atg Total no. of codons in cdna seq = 404 atg atg prev g start g-a post t end g-t --- --- No joining codon length of cdnaseq after deletion = 1209 ter codon is tga at posn 403 Protein length after deletion = 402 Total no. of codons in del cdnaseq = 403 last codon in array is tga aag (K) atg (M) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) aag (K) atg (M) ttt (F) gaa (E) act (T) att (I) wild type sequence in deletion region: atg (M) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : atg (M) 199 M 199 M - central_nervous_system PTEN 4 c.1_1212del1212 p.M1_*404del length of cdnaseq = 1212 length of protseq = 403 1 1212 1212 1212 1 1 404 3 atgacagccatcatcaaagagatcgttagcagaaacaaaaggagatatcaagaggatggattcgacttagacttgacctatatttatccaaacattattgctatgggatttcctgcagaaagacttgaaggcgtatacaggaacaatattgatgatgtagtaaggtttttggattcaaagcataaaaaccattacaagatatacaatctttgtgctgaaagacattatgacaccgccaaatttaattgcagagttgcacaatatccttttgaagaccataacccaccacagctagaacttatcaaacccttttgtgaagatcttgaccaatggctaagtgaagatgacaatcatgttgcagcaattcactgtaaagctggaaagggacgaactggtgtaatgatatgtgcatatttattacatcggggcaaatttttaaaggcacaagaggccctagatttctatggggaagtaaggaccagagacaaaaagggagtaactattcccagtcagaggcgctatgtgtattattatagctacctgttaaagaatcatctggattatagaccagtggcactgttgtttcacaagatgatgtttgaaactattccaatgttcagtggcggaacttgcaatcctcagtttgtggtctgccagctaaaggtgaagatatattcctccaattcaggacccacacgacgggaagacaagttcatgtactttgagttccctcagccgttacctgtgtgtggtgatatcaaagtagagttcttccacaaacagaacaagatgctaaaaaaggacaaaatgtttcacttttgggtaaatacattcttcataccaggaccagaggaaacctcagaaaaagtagaaaatggaagtctatgtgatcaagaaatcgatagcatttgcagtatagagcgtgcagataatgacaaggaatatctagtacttactttaacaaaaaatgatcttgacaaagcaaataaagacaaagccaaccgatacttttctccaaattttaaggtgaagctgtacttcacaaaaacagtagaggagccgtcaaatccagaggctagcagttcaacttctgtaacaccagatgttagtgacaatgaacctgatcattatagatattctgacaccactgactctgatccagagaatgaaccttttgatgaagatcagcatacacaaattacaaaagtctga Total no. of codons in cdna seq = 404 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) aca (T) gcc (A) atc (I) atc (I) aaa (K) gag (E) atc (I) gtt (V) agc (S) aga (R) aac (N) aaa (K) agg (R) aga (R) tat (Y) caa (Q) gag (E) gat (D) gga (G) ttc (F) gac (D) tta (L) gac (D) ttg (L) acc (T) tat (Y) att (I) tat (Y) cca (P) aac (N) att (I) att (I) gct (A) atg (M) gga (G) ttt (F) cct (P) gca (A) gaa (E) aga (R) ctt (L) gaa (E) ggc (G) gta (V) tac (Y) agg (R) aac (N) aat (N) att (I) gat (D) gat (D) gta (V) gta (V) agg (R) ttt (F) ttg (L) gat (D) tca (S) aag (K) cat (H) aaa (K) aac (N) cat (H) tac (Y) aag (K) ata (I) tac (Y) aat (N) ctt (L) tgt (C) gct (A) gaa (E) aga (R) cat (H) tat (Y) gac (D) acc (T) gcc (A) aaa (K) ttt (F) aat (N) tgc (C) aga (R) gtt (V) gca (A) caa (Q) tat (Y) cct (P) ttt (F) gaa (E) gac (D) cat (H) aac (N) cca (P) cca (P) cag (Q) cta (L) gaa (E) ctt (L) atc (I) aaa (K) ccc (P) ttt (F) tgt (C) gaa (E) gat (D) ctt (L) gac (D) caa (Q) tgg (W) cta (L) agt (S) gaa (E) gat (D) gac (D) aat (N) cat (H) gtt (V) gca (A) gca (A) att (I) cac (H) tgt (C) aaa (K) gct (A) gga (G) aag (K) gga (G) cga (R) act (T) ggt (G) gta (V) atg (M) ata (I) tgt (C) gca (A) tat (Y) tta (L) tta (L) cat (H) cgg (R) ggc (G) aaa (K) ttt (F) tta (L) aag (K) gca (A) caa (Q) gag (E) gcc (A) cta (L) gat (D) ttc (F) tat (Y) ggg (G) gaa (E) gta (V) agg (R) acc (T) aga (R) gac (D) aaa (K) aag (K) gga (G) gta (V) act (T) att (I) ccc (P) agt (S) cag (Q) agg (R) cgc (R) tat (Y) gtg (V) tat (Y) tat (Y) tat (Y) agc (S) tac (Y) ctg (L) tta (L) aag (K) aat (N) cat (H) ctg (L) gat (D) tat (Y) aga (R) cca (P) gtg (V) gca (A) ctg (L) ttg (L) ttt (F) cac (H) aag (K) atg (M) atg (M) ttt (F) gaa (E) act (T) att (I) cca (P) atg (M) ttc (F) agt (S) ggc (G) gga (G) act (T) tgc (C) aat (N) cct (P) cag (Q) ttt (F) gtg (V) gtc (V) tgc (C) cag (Q) cta (L) aag (K) gtg (V) aag (K) ata (I) tat (Y) tcc (S) tcc (S) aat (N) tca (S) gga (G) ccc (P) aca (T) cga (R) cgg (R) gaa (E) gac (D) aag (K) ttc (F) atg (M) tac (Y) ttt (F) gag (E) ttc (F) cct (P) cag (Q) ccg (P) tta (L) cct (P) gtg (V) tgt (C) ggt (G) gat (D) atc (I) aaa (K) gta (V) gag (E) ttc (F) ttc (F) cac (H) aaa (K) cag (Q) aac (N) aag (K) atg (M) cta (L) aaa (K) aag (K) gac (D) aaa (K) atg (M) ttt (F) cac (H) ttt (F) tgg (W) gta (V) aat (N) aca (T) ttc (F) ttc (F) ata (I) cca (P) gga (G) cca (P) gag (E) gaa (E) acc (T) tca (S) gaa (E) aaa (K) gta (V) gaa (E) aat (N) gga (G) agt (S) cta (L) tgt (C) gat (D) caa (Q) gaa (E) atc (I) gat (D) agc (S) att (I) tgc (C) agt (S) ata (I) gag (E) cgt (R) gca (A) gat (D) aat (N) gac (D) aag (K) gaa (E) tat (Y) cta (L) gta (V) ctt (L) act (T) tta (L) aca (T) aaa (K) aat (N) gat (D) ctt (L) gac (D) aaa (K) gca (A) aat (N) aaa (K) gac (D) aaa (K) gcc (A) aac (N) cga (R) tac (Y) ttt (F) tct (S) cca (P) aat (N) ttt (F) aag (K) gtg (V) aag (K) ctg (L) tac (Y) ttc (F) aca (T) aaa (K) aca (T) gta (V) gag (E) gag (E) ccg (P) tca (S) aat (N) cca (P) gag (E) gct (A) agc (S) agt (S) tca (S) act (T) tct (S) gta (V) aca (T) cca (P) gat (D) gtt (V) agt (S) gac (D) aat (N) gaa (E) cct (P) gat (D) cat (H) tat (Y) aga (R) tat (Y) tct (S) gac (D) acc (T) act (T) gac (D) tct (S) gat (D) cca (P) gag (E) aat (N) gaa (E) cct (P) ttt (F) gat (D) gaa (E) gat (D) cag (Q) cat (H) aca (T) caa (Q) att (I) aca (T) aaa (K) gtc (V) tga (TER) wt inframe deln region length = 404 first wt aa affected by inframe deletion is : atg (M) 1 M 404 * kidney RB1 1 c.719_724delAAACAG p.K240_A242>T length of cdnaseq = 2787 length of protseq = 928 719 724 AAACAG 6 240 2 242 1 aaacag Total no. of codons in cdna seq = 929 aaa gct start a-a end g-c a-- -ct act (T) length of cdnaseq after deletion = 2781 ter codon is tga at posn 927 Protein length after deletion = 926 Total no. of codons in del cdnaseq = 927 last codon in array is tga cca (P) tat (Y) aaa (K) gct (A) gtt (V) ata (I) ccc (P) att (I) cca (P) tat (Y) act (T) gtt (V) ata (I) ccc (P) wild type sequence in deletion region: aaa (K) aca (T) gct (A) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : aaa (K) 240 K 242 A T lung RB1 1 c.2133_2180del48 p.C712_A727del length of cdnaseq = 2787 length of protseq = 928 2133 2180 48 48 711 3 727 2 atgcaaagtgaagaatatagaccttaaattcaaaatcattgtaacagc Total no. of codons in cdna seq = 929 ata gca start t-a end c-a at- --a ata (I) length of cdnaseq after deletion = 2739 ter codon is tga at posn 913 Protein length after deletion = 912 Total no. of codons in del cdnaseq = 913 last codon in array is tga tat (Y) ggc (G) ata (I) gca (A) tac (Y) aag (K) gat (D) ctt (L) tat (Y) ggc (G) ata (I) tac (Y) aag (K) gat (D) wild type sequence in deletion region: ata (I) tgc (C) aaa (K) gtg (V) aag (K) aat (N) ata (I) gac (D) ctt (L) aaa (K) ttc (F) aaa (K) atc (I) att (I) gta (V) aca (T) gca (A) wt inframe deln region length = 17 first wt aa affected by inframe deletion is : tgc (C) 712 C 727 A ovary RB1 1 c.2107_2211del105 p.I703_E737del length of cdnaseq = 2787 length of protseq = 928 2107 2211 105 105 703 1 737 3 attatgatgtgttccatgtatggcatatgcaaagtgaagaatatagaccttaaattcaaaatcattgtaacagcatacaaggatcttcctcatgctgttcaggag Total no. of codons in cdna seq = 929 att gag prev a start a-a post a end g-a --- --- No joining codon length of cdnaseq after deletion = 2682 ter codon is tga at posn 894 Protein length after deletion = 893 Total no. of codons in del cdnaseq = 894 last codon in array is tga gac (D) caa (Q) att (I) gag (E) aca (T) ttc (F) aaa (K) cgt (R) gac (D) caa (Q) aca (T) ttc (F) aaa (K) cgt (R) wild type sequence in deletion region: att (I) atg (M) atg (M) tgt (C) tcc (S) atg (M) tat (Y) ggc (G) ata (I) tgc (C) aaa (K) gtg (V) aag (K) aat (N) ata (I) gac (D) ctt (L) aaa (K) ttc (F) aaa (K) atc (I) att (I) gta (V) aca (T) gca (A) tac (Y) aag (K) gat (D) ctt (L) cct (P) cat (H) gct (A) gtt (V) cag (Q) gag (E) wt inframe deln region length = 35 first wt aa affected by inframe deletion is : att (I) 703 I 737 E prostate RB1 1 c.2107_2211del105 p.I703_E737del length of cdnaseq = 2787 length of protseq = 928 2107 2211 105 105 703 1 737 3 attatgatgtgttccatgtatggcatatgcaaagtgaagaatatagaccttaaattcaaaatcattgtaacagcatacaaggatcttcctcatgctgttcaggag Total no. of codons in cdna seq = 929 att gag prev a start a-a post a end g-a --- --- No joining codon length of cdnaseq after deletion = 2682 ter codon is tga at posn 894 Protein length after deletion = 893 Total no. of codons in del cdnaseq = 894 last codon in array is tga gac (D) caa (Q) att (I) gag (E) aca (T) ttc (F) aaa (K) cgt (R) gac (D) caa (Q) aca (T) ttc (F) aaa (K) cgt (R) wild type sequence in deletion region: att (I) atg (M) atg (M) tgt (C) tcc (S) atg (M) tat (Y) ggc (G) ata (I) tgc (C) aaa (K) gtg (V) aag (K) aat (N) ata (I) gac (D) ctt (L) aaa (K) ttc (F) aaa (K) atc (I) att (I) gta (V) aca (T) gca (A) tac (Y) aag (K) gat (D) ctt (L) cct (P) cat (H) gct (A) gtt (V) cag (Q) gag (E) wt inframe deln region length = 35 first wt aa affected by inframe deletion is : att (I) 703 I 737 E urinary_tract RB1 1 c.2687_2689delAAT p.K896_F897>I length of cdnaseq = 2787 length of protseq = 928 2687 2689 AAT 3 896 2 897 1 aat Total no. of codons in cdna seq = 929 aaa ttt start a-a end t-t a-- -tt att (I) length of cdnaseq after deletion = 2784 ter codon is tga at posn 928 Protein length after deletion = 927 Total no. of codons in del cdnaseq = 928 last codon in array is tga gag (E) tcc (S) aaa (K) ttt (F) cag (Q) cag (Q) aaa (K) ctg (L) gag (E) tcc (S) att (I) cag (Q) cag (Q) aaa (K) wild type sequence in deletion region: aaa (K) ttt (F) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aaa (K) 896 K 897 F I adrenal_gland RET 1 c.1894_1899delGAGCTG p.E632_L633del length of cdnaseq = 3345 length of protseq = 1114 1894 1899 GAGCTG 6 632 1 633 3 gagctg Total no. of codons in cdna seq = 1115 gag ctg prev c start c-g post t end g-t --- --- No joining codon length of cdnaseq after deletion = 3339 ter codon is taa at posn 1113 Protein length after deletion = 1112 Total no. of codons in del cdnaseq = 1113 last codon in array is taa tgc (C) gac (D) gag (E) ctg (L) tgc (C) cgc (R) acg (T) gtg (V) tgc (C) gac (D) tgc (C) cgc (R) acg (T) gtg (V) wild type sequence in deletion region: gag (E) ctg (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gag (E) 632 E 633 L thyroid RET 1 c.1774_1821del48 p.G592_G607del length of cdnaseq = 3345 length of protseq = 1114 1774 1821 48 48 592 1 607 3 gggggacacgagcctggggagccccgggggattaaagctggctatggc Total no. of codons in cdna seq = 1115 ggg ggc prev t start t-g post a end c-a --- --- No joining codon length of cdnaseq after deletion = 3297 ter codon is taa at posn 1099 Protein length after deletion = 1098 Total no. of codons in del cdnaseq = 1099 last codon in array is taa att (I) gtt (V) ggg (G) ggc (G) acc (T) tgc (C) aac (N) tgc (C) att (I) gtt (V) acc (T) tgc (C) aac (N) tgc (C) wild type sequence in deletion region: ggg (G) gga (G) cac (H) gag (E) cct (P) ggg (G) gag (E) ccc (P) cgg (R) ggg (G) att (I) aaa (K) gct (A) ggc (G) tat (Y) ggc (G) wt inframe deln region length = 16 first wt aa affected by inframe deletion is : ggg (G) 592 G 607 G thyroid RET 1 c.1834_1860del27 p.F612_C620del length of cdnaseq = 3345 length of protseq = 1114 1834 1860 27 27 612 1 620 3 ttccctgaggaggagaagtgcttctgc Total no. of codons in cdna seq = 1115 ttc tgc prev c start c-t post g end c-g --- --- No joining codon length of cdnaseq after deletion = 3318 ter codon is taa at posn 1106 Protein length after deletion = 1105 Total no. of codons in del cdnaseq = 1106 last codon in array is taa aac (N) tgc (C) ttc (F) tgc (C) gag (E) ccc (P) gaa (E) gac (D) aac (N) tgc (C) gag (E) ccc (P) gaa (E) gac (D) wild type sequence in deletion region: ttc (F) cct (P) gag (E) gag (E) gag (E) aag (K) tgc (C) ttc (F) tgc (C) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : ttc (F) 612 F 620 C thyroid RET 1 c.1881_1898del18 p.D627_L633>E length of cdnaseq = 3345 length of protseq = 1114 1881 1898 18 18 627 3 633 2 tccactgtgcgacgagct Total no. of codons in cdna seq = 1115 gat ctg start a-t end t-g ga- --g gag (E) length of cdnaseq after deletion = 3327 ter codon is taa at posn 1109 Protein length after deletion = 1108 Total no. of codons in del cdnaseq = 1109 last codon in array is taa atc (I) cag (Q) gat (D) ctg (L) tgc (C) cgc (R) acg (T) gtg (V) atc (I) cag (Q) gag (E) tgc (C) cgc (R) acg (T) wild type sequence in deletion region: gat (D) cca (P) ctg (L) tgc (C) gac (D) gag (E) ctg (L) wt inframe deln region length = 7 first wt aa affected by inframe deletion is : gat (D) 627 D 633 L E thyroid RET 1 c.1886_1891delTGTGCG p.L629_D631>H length of cdnaseq = 3345 length of protseq = 1114 1886 1891 TGTGCG 6 629 2 631 1 tgtgcg Total no. of codons in cdna seq = 1115 ctg gac start c-t end g-a c-- -ac cac (H) length of cdnaseq after deletion = 3339 ter codon is taa at posn 1113 Protein length after deletion = 1112 Total no. of codons in del cdnaseq = 1113 last codon in array is taa gat (D) cca (P) ctg (L) gac (D) gag (E) ctg (L) tgc (C) cgc (R) gat (D) cca (P) cac (H) gag (E) ctg (L) tgc (C) wild type sequence in deletion region: ctg (L) tgc (C) gac (D) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : ctg (L) 629 L 631 D H thyroid RET 1 c.1893_1898delCGAGCT p.D631_L633>E length of cdnaseq = 3345 length of protseq = 1114 1893 1898 CGAGCT 6 631 3 633 2 cgagct Total no. of codons in cdna seq = 1115 gac ctg start a-c end t-g ga- --g gag (E) length of cdnaseq after deletion = 3339 ter codon is taa at posn 1113 Protein length after deletion = 1112 Total no. of codons in del cdnaseq = 1113 last codon in array is taa ctg (L) tgc (C) gac (D) ctg (L) tgc (C) cgc (R) acg (T) gtg (V) ctg (L) tgc (C) gag (E) tgc (C) cgc (R) acg (T) wild type sequence in deletion region: gac (D) gag (E) ctg (L) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : gac (D) 631 D 633 L E thyroid RET 1 c.1895_1897delAGC p.E632_L633>V length of cdnaseq = 3345 length of protseq = 1114 1895 1897 AGC 3 632 2 633 1 agc Total no. of codons in cdna seq = 1115 gag ctg start g-a end c-t g-- -tg gtg (V) length of cdnaseq after deletion = 3342 ter codon is taa at posn 1114 Protein length after deletion = 1113 Total no. of codons in del cdnaseq = 1114 last codon in array is taa tgc (C) gac (D) gag (E) ctg (L) tgc (C) cgc (R) acg (T) gtg (V) tgc (C) gac (D) gtg (V) tgc (C) cgc (R) acg (T) wild type sequence in deletion region: gag (E) ctg (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gag (E) 632 E 633 L V thyroid RET 1 c.1895_1900delAGCTGT p.E632_C634>L length of cdnaseq = 3345 length of protseq = 1114 1895 1900 AGCTGT 6 632 2 634 1 agctgt Total no. of codons in cdna seq = 1115 gag tgc start g-a end t-g g-- -gc ggc (G) length of cdnaseq after deletion = 3339 ter codon is taa at posn 1113 Protein length after deletion = 1112 Total no. of codons in del cdnaseq = 1113 last codon in array is taa tgc (C) gac (D) gag (E) tgc (C) cgc (R) acg (T) gtg (V) atc (I) tgc (C) gac (D) ggc (G) cgc (R) acg (T) gtg (V) wild type sequence in deletion region: gag (E) ctg (L) tgc (C) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : gag (E) 632 E 634 C L thyroid RET 1 c.2692_2703del12 p.D898_E901del length of cdnaseq = 3345 length of protseq = 1114 2692 2703 12 12 898 1 901 3 gatgtttatgaa Total no. of codons in cdna seq = 1115 gat gaa prev a start a-g post g end a-g --- --- No joining codon length of cdnaseq after deletion = 3333 ter codon is taa at posn 1111 Protein length after deletion = 1110 Total no. of codons in del cdnaseq = 1111 last codon in array is taa tcc (S) cga (R) gat (D) gaa (E) gag (E) gat (D) tcc (S) tac (Y) tcc (S) cga (R) gag (E) gat (D) tcc (S) tac (Y) wild type sequence in deletion region: gat (D) gtt (V) tat (Y) gaa (E) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : gat (D) 898 D 901 E thyroid RET 1 c.2694_2705del12 p.D898_E901del length of cdnaseq = 3345 length of protseq = 1114 2694 2705 12 12 898 3 902 2 tgtttatgaaga Total no. of codons in cdna seq = 1115 gat gag start a-t end a-g ga- --g gag (E) length of cdnaseq after deletion = 3333 ter codon is taa at posn 1111 Protein length after deletion = 1110 Total no. of codons in del cdnaseq = 1111 last codon in array is taa tcc (S) cga (R) gat (D) gag (E) gat (D) tcc (S) tac (Y) gtg (V) tcc (S) cga (R) gag (E) gat (D) tcc (S) tac (Y) wild type sequence in deletion region: gat (D) gtt (V) tat (Y) gaa (E) gag (E) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : gat (D) 898 D 901 E thyroid RET 5 c.1894_1899delGAGCTG p.E632_L633del length of cdnaseq = 3345 length of protseq = 1114 1894 1899 GAGCTG 6 632 1 633 3 gagctg Total no. of codons in cdna seq = 1115 gag ctg prev c start c-g post t end g-t --- --- No joining codon length of cdnaseq after deletion = 3339 ter codon is taa at posn 1113 Protein length after deletion = 1112 Total no. of codons in del cdnaseq = 1113 last codon in array is taa tgc (C) gac (D) gag (E) ctg (L) tgc (C) cgc (R) acg (T) gtg (V) tgc (C) gac (D) tgc (C) cgc (R) acg (T) gtg (V) wild type sequence in deletion region: gag (E) ctg (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gag (E) 632 E 633 L large_intestine SMAD4 1 c.1123_1134del12 p.A375_R378del length of cdnaseq = 1659 length of protseq = 552 1123 1134 12 12 375 1 378 3 gccattgagaga Total no. of codons in cdna seq = 553 gcc aga prev a start a-g post g end a-g --- --- No joining codon length of cdnaseq after deletion = 1647 ter codon is tga at posn 549 Protein length after deletion = 548 Total no. of codons in del cdnaseq = 549 last codon in array is tga aca (T) gaa (E) gcc (A) aga (R) gca (A) agg (R) ttg (L) cac (H) aca (T) gaa (E) gca (A) agg (R) ttg (L) cac (H) wild type sequence in deletion region: gcc (A) att (I) gag (E) aga (R) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : att (I) 375 A 378 R I A 1 large_intestine SMAD4 c.1123_1134del12 p.A375_R378del large_intestine SMAD4 2 c.1015_1029del15 p.F339_S343del length of cdnaseq = 1659 length of protseq = 552 1015 1029 15 15 339 1 343 3 tttaaggttccttca Total no. of codons in cdna seq = 553 ttt tca prev a start a-t post a end a-a --- --- No joining codon length of cdnaseq after deletion = 1644 ter codon is tga at posn 548 Protein length after deletion = 547 Total no. of codons in del cdnaseq = 548 last codon in array is tga gag (E) aca (T) ttt (F) tca (S) agc (S) tgc (C) cct (P) att (I) gag (E) aca (T) agc (S) tgc (C) cct (P) att (I) wild type sequence in deletion region: ttt (F) aag (K) gtt (V) cct (P) tca (S) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : ttt (F) 339 F 343 S central_nervous_system SMARCB1 1 c.553_579del27 p.V185_M193del length of cdnaseq = 1158 length of protseq = 385 553 579 27 27 185 1 193 3 gtgctggtccccatccggctggacatg Total no. of codons in cdna seq = 386 gtg atg prev g start g-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 1131 ter codon is taa at posn 377 Protein length after deletion = 376 Total no. of codons in del cdnaseq = 377 last codon in array is taa ccc (P) gag (E) gtg (V) atg (M) gag (E) atc (I) gat (D) ggg (G) ccc (P) gag (E) gag (E) atc (I) gat (D) ggg (G) wild type sequence in deletion region: gtg (V) ctg (L) gtc (V) ccc (P) atc (I) cgg (R) ctg (L) gac (D) atg (M) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : gtg (V) 185 V 193 M central_nervous_system SMARCB1 1 c.796_1158del363 p.L266_*386del length of cdnaseq = 1158 length of protseq = 385 796 1158 363 363 266 1 386 3 ctgaacatccatgtgggaaacatttccctggtggaccagtttgagtgggacatgtcagagaaggagaactcaccagagaagtttgccctgaagctgtgctcggagctggggttgggcggggagtttgtcaccaccatcgcatacagcatccggggacagctgagctggcatcagaagacctacgccttcagcgagaaccctctgcccacagtggagattgccatccggaacacgggcgatgcggaccagtggtgcccactgctggagactctgacagacgctgagatggagaagaagatccgcgaccaggacaggaacacgaggcggatgaggcgtcttgccaacacggccccggcctggtaa Total no. of codons in cdna seq = 386 ctg taa prev g start g-c deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 795 Total no. of codons in del cdnaseq = 265 last codon in array is aag No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 265 atc (I) aag (K) ctg (L) taa (TER) --- ( ) --- ( ) --- ( ) --- ( ) atc (I) aag (K) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: ctg (L) aac (N) atc (I) cat (H) gtg (V) gga (G) aac (N) att (I) tcc (S) ctg (L) gtg (V) gac (D) cag (Q) ttt (F) gag (E) tgg (W) gac (D) atg (M) tca (S) gag (E) aag (K) gag (E) aac (N) tca (S) cca (P) gag (E) aag (K) ttt (F) gcc (A) ctg (L) aag (K) ctg (L) tgc (C) tcg (S) gag (E) ctg (L) ggg (G) ttg (L) ggc (G) ggg (G) gag (E) ttt (F) gtc (V) acc (T) acc (T) atc (I) gca (A) tac (Y) agc (S) atc (I) cgg (R) gga (G) cag (Q) ctg (L) agc (S) tgg (W) cat (H) cag (Q) aag (K) acc (T) tac (Y) gcc (A) ttc (F) agc (S) gag (E) aac (N) cct (P) ctg (L) ccc (P) aca (T) gtg (V) gag (E) att (I) gcc (A) atc (I) cgg (R) aac (N) acg (T) ggc (G) gat (D) gcg (A) gac (D) cag (Q) tgg (W) tgc (C) cca (P) ctg (L) ctg (L) gag (E) act (T) ctg (L) aca (T) gac (D) gct (A) gag (E) atg (M) gag (E) aag (K) aag (K) atc (I) cgc (R) gac (D) cag (Q) gac (D) agg (R) aac (N) acg (T) agg (R) cgg (R) atg (M) agg (R) cgt (R) ctt (L) gcc (A) aac (N) acg (T) gcc (A) ccg (P) gcc (A) tgg (W) taa (TER) wt inframe deln region length = 121 first wt aa affected by inframe deletion is : ctg (L) 266 L 386 * haematopoietic_and_lymphoid_tissue SOCS1 1 c.186_323del138 p.D63_Q108del length of cdnaseq = 636 length of protseq = 211 186 323 138 138 62 3 108 2 cgattaccggcgcatcacgcgcgccagcgcgctcctggacgcctgcggattctactgggggcccctgagcgtgcacggggcgcacgagcggctgcgcgccgagcccgtgggcaccttcctggtgcgcgacagccgcca Total no. of codons in cdna seq = 212 gcc cag start c-c end a-g gc- --g gcg (A) length of cdnaseq after deletion = 498 ter codon is tga at posn 166 Protein length after deletion = 165 Total no. of codons in del cdnaseq = 166 last codon in array is tga tcg (S) cac (H) gcc (A) cag (Q) cgg (R) aac (N) tgc (C) ttt (F) tcg (S) cac (H) gcg (A) cgg (R) aac (N) tgc (C) wild type sequence in deletion region: gcc (A) gat (D) tac (Y) cgg (R) cgc (R) atc (I) acg (T) cgc (R) gcc (A) agc (S) gcg (A) ctc (L) ctg (L) gac (D) gcc (A) tgc (C) gga (G) ttc (F) tac (Y) tgg (W) ggg (G) ccc (P) ctg (L) agc (S) gtg (V) cac (H) ggg (G) gcg (A) cac (H) gag (E) cgg (R) ctg (L) cgc (R) gcc (A) gag (E) ccc (P) gtg (V) ggc (G) acc (T) ttc (F) ctg (L) gtg (V) cgc (R) gac (D) agc (S) cgc (R) cag (Q) wt inframe deln region length = 47 first wt aa affected by inframe deletion is : gat (D) 63 D 108 Q haematopoietic_and_lymphoid_tissue SOCS1 1 c.318_377del60 p.R107_I126del length of cdnaseq = 636 length of protseq = 211 318 377 60 60 106 3 126 2 ccgccagcggaactgctttttcgcccttagcgtgaagatggcctcgggacccacgagcat Total no. of codons in cdna seq = 212 agc atc start g-c end t-c ag- --c agc (S) length of cdnaseq after deletion = 576 ter codon is tga at posn 192 Protein length after deletion = 191 Total no. of codons in del cdnaseq = 192 last codon in array is tga cgc (R) gac (D) agc (S) atc (I) cgc (R) gtg (V) cac (H) ttt (F) cgc (R) gac (D) agc (S) cgc (R) gtg (V) cac (H) wild type sequence in deletion region: agc (S) cgc (R) cag (Q) cgg (R) aac (N) tgc (C) ttt (F) ttc (F) gcc (A) ctt (L) agc (S) gtg (V) aag (K) atg (M) gcc (A) tcg (S) gga (G) ccc (P) acg (T) agc (S) atc (I) wt inframe deln region length = 21 first wt aa affected by inframe deletion is : cgc (R) 107 R 126 I haematopoietic_and_lymphoid_tissue SOCS1 1 c.388_402del15 p.F130_R134del length of cdnaseq = 636 length of protseq = 211 388 402 15 15 130 1 134 3 tttcaggccggccgc Total no. of codons in cdna seq = 212 ttt cgc prev c start c-t post t end c-t --- --- No joining codon length of cdnaseq after deletion = 621 ter codon is tga at posn 207 Protein length after deletion = 206 Total no. of codons in del cdnaseq = 207 last codon in array is tga gtg (V) cac (H) ttt (F) cgc (R) ttt (F) cac (H) ctg (L) gat (D) gtg (V) cac (H) ttt (F) cac (H) ctg (L) gat (D) wild type sequence in deletion region: ttt (F) cag (Q) gcc (A) ggc (G) cgc (R) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : cag (Q) 130 F 134 R Q F 1 haematopoietic_and_lymphoid_tissue SOCS1 c.388_402del15 p.F130_R134del haematopoietic_and_lymphoid_tissue SOCS1 1 c.393_407del15 p.Q131_H136>H length of cdnaseq = 636 length of protseq = 211 393 407 15 15 131 3 136 2 ggccggccgctttca Total no. of codons in cdna seq = 212 cag cac start a-g end a-c ca- --c cac (H) length of cdnaseq after deletion = 621 ter codon is tga at posn 207 Protein length after deletion = 206 Total no. of codons in del cdnaseq = 207 last codon in array is tga cac (H) ttt (F) cag (Q) cac (H) ctg (L) gat (D) ggc (G) agc (S) cac (H) ttt (F) cac (H) ctg (L) gat (D) ggc (G) wild type sequence in deletion region: cag (Q) gcc (A) ggc (G) cgc (R) ttt (F) cac (H) wt inframe deln region length = 6 first wt aa affected by inframe deletion is : cag (Q) 131 Q 136 H H haematopoietic_and_lymphoid_tissue SOCS1 1 c.471_482del12 p.P158_M161del length of cdnaseq = 636 length of protseq = 211 471 482 12 12 157 3 161 2 gccgcgccgcat Total no. of codons in cdna seq = 212 gcg atg start c-g end t-g gc- --g gcg (A) length of cdnaseq after deletion = 624 ter codon is tga at posn 208 Protein length after deletion = 207 Total no. of codons in del cdnaseq = 208 last codon in array is tga gtg (V) gcg (A) gcg (A) atg (M) ctg (L) ggg (G) gcc (A) ccg (P) gtg (V) gcg (A) gcg (A) ctg (L) ggg (G) gcc (A) wild type sequence in deletion region: gcg (A) ccg (P) cgc (R) cgc (R) atg (M) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : ccg (P) 158 P 161 M haematopoietic_and_lymphoid_tissue SOCS1 2 c.552_575del24 p.A184_L191del length of cdnaseq = 636 length of protseq = 211 552 575 24 24 184 3 192 2 caccgtgggccgcgagaacctggc Total no. of codons in cdna seq = 212 gcc gct start c-c end c-t gc- --t gct (A) length of cdnaseq after deletion = 612 ter codon is tga at posn 204 Protein length after deletion = 203 Total no. of codons in del cdnaseq = 204 last codon in array is tga atc (I) gtg (V) gcc (A) gct (A) cgc (R) atc (I) ccc (P) ctc (L) atc (I) gtg (V) gct (A) cgc (R) atc (I) ccc (P) wild type sequence in deletion region: gcc (A) acc (T) gtg (V) ggc (G) cgc (R) gag (E) aac (N) ctg (L) gct (A) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : acc (T) 184 A 191 L T A 2 haematopoietic_and_lymphoid_tissue SOCS1 c.552_575del24 p.A184_L191del cervix STK11 11 c.1_1302del1302 p.M1_*434del length of cdnaseq = 1302 length of protseq = 433 1 1302 1302 1302 1 1 434 3 atggaggtggtggacccgcagcagctgggcatgttcacggagggcgagctgatgtcggtgggtatggacacgttcatccaccgcatcgactccaccgaggtcatctaccagccgcgccgcaagcgggccaagctcatcggcaagtacctgatgggggacctgctgggggaaggctcttacggcaaggtgaaggaggtgctggactcggagacgctgtgcaggagggccgtcaagatcctcaagaagaagaagttgcgaaggatccccaacggggaggccaacgtgaagaaggaaattcaactactgaggaggttacggcacaaaaatgtcatccagctggtggatgtgttatacaacgaagagaagcagaaaatgtatatggtgatggagtactgcgtgtgtggcatgcaggaaatgctggacagcgtgccggagaagcgtttcccagtgtgccaggcccacgggtacttctgtcagctgattgacggcctggagtacctgcatagccagggcattgtgcacaaggacatcaagccggggaacctgctgctcaccaccggtggcaccctcaaaatctccgacctgggcgtggccgaggcactgcacccgttcgcggcggacgacacctgccggaccagccagggctccccggctttccagccgcccgagattgccaacggcctggacaccttctccggcttcaaggtggacatctggtcggctggggtcaccctctacaacatcaccacgggtctgtaccccttcgaaggggacaacatctacaagttgtttgagaacatcgggaaggggagctacgccatcccgggcgactgtggccccccgctctctgacctgctgaaagggatgcttgagtacgaaccggccaagaggttctccatccggcagatccggcagcacagctggttccggaagaaacatcctccggctgaagcaccagtgcccatcccaccgagcccagacaccaaggaccggtggcgcagcatgactgtggtgccgtacttggaggacctgcacggcgcggacgaggacgaggacctcttcgacatcgaggatgacatcatctacactcaggacttcacggtgcccggacaggtcccagaagaggaggccagtcacaatggacagcgccggggcctccccaaggccgtgtgtatgaacggcacagaggcggcgcagctgagcaccaaatccagggcggagggccgggcccccaaccctgcccgcaaggcctgctccgccagcagcaagatccgccggctgtcggcctgcaagcagcagtga Total no. of codons in cdna seq = 434 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) gtg (V) gtg (V) gac (D) ccg (P) cag (Q) cag (Q) ctg (L) ggc (G) atg (M) ttc (F) acg (T) gag (E) ggc (G) gag (E) ctg (L) atg (M) tcg (S) gtg (V) ggt (G) atg (M) gac (D) acg (T) ttc (F) atc (I) cac (H) cgc (R) atc (I) gac (D) tcc (S) acc (T) gag (E) gtc (V) atc (I) tac (Y) cag (Q) ccg (P) cgc (R) cgc (R) aag (K) cgg (R) gcc (A) aag (K) ctc (L) atc (I) ggc (G) aag (K) tac (Y) ctg (L) atg (M) ggg (G) gac (D) ctg (L) ctg (L) ggg (G) gaa (E) ggc (G) tct (S) tac (Y) ggc (G) aag (K) gtg (V) aag (K) gag (E) gtg (V) ctg (L) gac (D) tcg (S) gag (E) acg (T) ctg (L) tgc (C) agg (R) agg (R) gcc (A) gtc (V) aag (K) atc (I) ctc (L) aag (K) aag (K) aag (K) aag (K) ttg (L) cga (R) agg (R) atc (I) ccc (P) aac (N) ggg (G) gag (E) gcc (A) aac (N) gtg (V) aag (K) aag (K) gaa (E) att (I) caa (Q) cta (L) ctg (L) agg (R) agg (R) tta (L) cgg (R) cac (H) aaa (K) aat (N) gtc (V) atc (I) cag (Q) ctg (L) gtg (V) gat (D) gtg (V) tta (L) tac (Y) aac (N) gaa (E) gag (E) aag (K) cag (Q) aaa (K) atg (M) tat (Y) atg (M) gtg (V) atg (M) gag (E) tac (Y) tgc (C) gtg (V) tgt (C) ggc (G) atg (M) cag (Q) gaa (E) atg (M) ctg (L) gac (D) agc (S) gtg (V) ccg (P) gag (E) aag (K) cgt (R) ttc (F) cca (P) gtg (V) tgc (C) cag (Q) gcc (A) cac (H) ggg (G) tac (Y) ttc (F) tgt (C) cag (Q) ctg (L) att (I) gac (D) ggc (G) ctg (L) gag (E) tac (Y) ctg (L) cat (H) agc (S) cag (Q) ggc (G) att (I) gtg (V) cac (H) aag (K) gac (D) atc (I) aag (K) ccg (P) ggg (G) aac (N) ctg (L) ctg (L) ctc (L) acc (T) acc (T) ggt (G) ggc (G) acc (T) ctc (L) aaa (K) atc (I) tcc (S) gac (D) ctg (L) ggc (G) gtg (V) gcc (A) gag (E) gca (A) ctg (L) cac (H) ccg (P) ttc (F) gcg (A) gcg (A) gac (D) gac (D) acc (T) tgc (C) cgg (R) acc (T) agc (S) cag (Q) ggc (G) tcc (S) ccg (P) gct (A) ttc (F) cag (Q) ccg (P) ccc (P) gag (E) att (I) gcc (A) aac (N) ggc (G) ctg (L) gac (D) acc (T) ttc (F) tcc (S) ggc (G) ttc (F) aag (K) gtg (V) gac (D) atc (I) tgg (W) tcg (S) gct (A) ggg (G) gtc (V) acc (T) ctc (L) tac (Y) aac (N) atc (I) acc (T) acg (T) ggt (G) ctg (L) tac (Y) ccc (P) ttc (F) gaa (E) ggg (G) gac (D) aac (N) atc (I) tac (Y) aag (K) ttg (L) ttt (F) gag (E) aac (N) atc (I) ggg (G) aag (K) ggg (G) agc (S) tac (Y) gcc (A) atc (I) ccg (P) ggc (G) gac (D) tgt (C) ggc (G) ccc (P) ccg (P) ctc (L) tct (S) gac (D) ctg (L) ctg (L) aaa (K) ggg (G) atg (M) ctt (L) gag (E) tac (Y) gaa (E) ccg (P) gcc (A) aag (K) agg (R) ttc (F) tcc (S) atc (I) cgg (R) cag (Q) atc (I) cgg (R) cag (Q) cac (H) agc (S) tgg (W) ttc (F) cgg (R) aag (K) aaa (K) cat (H) cct (P) ccg (P) gct (A) gaa (E) gca (A) cca (P) gtg (V) ccc (P) atc (I) cca (P) ccg (P) agc (S) cca (P) gac (D) acc (T) aag (K) gac (D) cgg (R) tgg (W) cgc (R) agc (S) atg (M) act (T) gtg (V) gtg (V) ccg (P) tac (Y) ttg (L) gag (E) gac (D) ctg (L) cac (H) ggc (G) gcg (A) gac (D) gag (E) gac (D) gag (E) gac (D) ctc (L) ttc (F) gac (D) atc (I) gag (E) gat (D) gac (D) atc (I) atc (I) tac (Y) act (T) cag (Q) gac (D) ttc (F) acg (T) gtg (V) ccc (P) gga (G) cag (Q) gtc (V) cca (P) gaa (E) gag (E) gag (E) gcc (A) agt (S) cac (H) aat (N) gga (G) cag (Q) cgc (R) cgg (R) ggc (G) ctc (L) ccc (P) aag (K) gcc (A) gtg (V) tgt (C) atg (M) aac (N) ggc (G) aca (T) gag (E) gcg (A) gcg (A) cag (Q) ctg (L) agc (S) acc (T) aaa (K) tcc (S) agg (R) gcg (A) gag (E) ggc (G) cgg (R) gcc (A) ccc (P) aac (N) cct (P) gcc (A) cgc (R) aag (K) gcc (A) tgc (C) tcc (S) gcc (A) agc (S) agc (S) aag (K) atc (I) cgc (R) cgg (R) ctg (L) tcg (S) gcc (A) tgc (C) aag (K) cag (Q) cag (Q) tga (TER) wt inframe deln region length = 434 first wt aa affected by inframe deletion is : atg (M) 1 M 434 * kidney STK11 1 c.1_1302del1302 p.M1_*434del length of cdnaseq = 1302 length of protseq = 433 1 1302 1302 1302 1 1 434 3 atggaggtggtggacccgcagcagctgggcatgttcacggagggcgagctgatgtcggtgggtatggacacgttcatccaccgcatcgactccaccgaggtcatctaccagccgcgccgcaagcgggccaagctcatcggcaagtacctgatgggggacctgctgggggaaggctcttacggcaaggtgaaggaggtgctggactcggagacgctgtgcaggagggccgtcaagatcctcaagaagaagaagttgcgaaggatccccaacggggaggccaacgtgaagaaggaaattcaactactgaggaggttacggcacaaaaatgtcatccagctggtggatgtgttatacaacgaagagaagcagaaaatgtatatggtgatggagtactgcgtgtgtggcatgcaggaaatgctggacagcgtgccggagaagcgtttcccagtgtgccaggcccacgggtacttctgtcagctgattgacggcctggagtacctgcatagccagggcattgtgcacaaggacatcaagccggggaacctgctgctcaccaccggtggcaccctcaaaatctccgacctgggcgtggccgaggcactgcacccgttcgcggcggacgacacctgccggaccagccagggctccccggctttccagccgcccgagattgccaacggcctggacaccttctccggcttcaaggtggacatctggtcggctggggtcaccctctacaacatcaccacgggtctgtaccccttcgaaggggacaacatctacaagttgtttgagaacatcgggaaggggagctacgccatcccgggcgactgtggccccccgctctctgacctgctgaaagggatgcttgagtacgaaccggccaagaggttctccatccggcagatccggcagcacagctggttccggaagaaacatcctccggctgaagcaccagtgcccatcccaccgagcccagacaccaaggaccggtggcgcagcatgactgtggtgccgtacttggaggacctgcacggcgcggacgaggacgaggacctcttcgacatcgaggatgacatcatctacactcaggacttcacggtgcccggacaggtcccagaagaggaggccagtcacaatggacagcgccggggcctccccaaggccgtgtgtatgaacggcacagaggcggcgcagctgagcaccaaatccagggcggagggccgggcccccaaccctgcccgcaaggcctgctccgccagcagcaagatccgccggctgtcggcctgcaagcagcagtga Total no. of codons in cdna seq = 434 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) gtg (V) gtg (V) gac (D) ccg (P) cag (Q) cag (Q) ctg (L) ggc (G) atg (M) ttc (F) acg (T) gag (E) ggc (G) gag (E) ctg (L) atg (M) tcg (S) gtg (V) ggt (G) atg (M) gac (D) acg (T) ttc (F) atc (I) cac (H) cgc (R) atc (I) gac (D) tcc (S) acc (T) gag (E) gtc (V) atc (I) tac (Y) cag (Q) ccg (P) cgc (R) cgc (R) aag (K) cgg (R) gcc (A) aag (K) ctc (L) atc (I) ggc (G) aag (K) tac (Y) ctg (L) atg (M) ggg (G) gac (D) ctg (L) ctg (L) ggg (G) gaa (E) ggc (G) tct (S) tac (Y) ggc (G) aag (K) gtg (V) aag (K) gag (E) gtg (V) ctg (L) gac (D) tcg (S) gag (E) acg (T) ctg (L) tgc (C) agg (R) agg (R) gcc (A) gtc (V) aag (K) atc (I) ctc (L) aag (K) aag (K) aag (K) aag (K) ttg (L) cga (R) agg (R) atc (I) ccc (P) aac (N) ggg (G) gag (E) gcc (A) aac (N) gtg (V) aag (K) aag (K) gaa (E) att (I) caa (Q) cta (L) ctg (L) agg (R) agg (R) tta (L) cgg (R) cac (H) aaa (K) aat (N) gtc (V) atc (I) cag (Q) ctg (L) gtg (V) gat (D) gtg (V) tta (L) tac (Y) aac (N) gaa (E) gag (E) aag (K) cag (Q) aaa (K) atg (M) tat (Y) atg (M) gtg (V) atg (M) gag (E) tac (Y) tgc (C) gtg (V) tgt (C) ggc (G) atg (M) cag (Q) gaa (E) atg (M) ctg (L) gac (D) agc (S) gtg (V) ccg (P) gag (E) aag (K) cgt (R) ttc (F) cca (P) gtg (V) tgc (C) cag (Q) gcc (A) cac (H) ggg (G) tac (Y) ttc (F) tgt (C) cag (Q) ctg (L) att (I) gac (D) ggc (G) ctg (L) gag (E) tac (Y) ctg (L) cat (H) agc (S) cag (Q) ggc (G) att (I) gtg (V) cac (H) aag (K) gac (D) atc (I) aag (K) ccg (P) ggg (G) aac (N) ctg (L) ctg (L) ctc (L) acc (T) acc (T) ggt (G) ggc (G) acc (T) ctc (L) aaa (K) atc (I) tcc (S) gac (D) ctg (L) ggc (G) gtg (V) gcc (A) gag (E) gca (A) ctg (L) cac (H) ccg (P) ttc (F) gcg (A) gcg (A) gac (D) gac (D) acc (T) tgc (C) cgg (R) acc (T) agc (S) cag (Q) ggc (G) tcc (S) ccg (P) gct (A) ttc (F) cag (Q) ccg (P) ccc (P) gag (E) att (I) gcc (A) aac (N) ggc (G) ctg (L) gac (D) acc (T) ttc (F) tcc (S) ggc (G) ttc (F) aag (K) gtg (V) gac (D) atc (I) tgg (W) tcg (S) gct (A) ggg (G) gtc (V) acc (T) ctc (L) tac (Y) aac (N) atc (I) acc (T) acg (T) ggt (G) ctg (L) tac (Y) ccc (P) ttc (F) gaa (E) ggg (G) gac (D) aac (N) atc (I) tac (Y) aag (K) ttg (L) ttt (F) gag (E) aac (N) atc (I) ggg (G) aag (K) ggg (G) agc (S) tac (Y) gcc (A) atc (I) ccg (P) ggc (G) gac (D) tgt (C) ggc (G) ccc (P) ccg (P) ctc (L) tct (S) gac (D) ctg (L) ctg (L) aaa (K) ggg (G) atg (M) ctt (L) gag (E) tac (Y) gaa (E) ccg (P) gcc (A) aag (K) agg (R) ttc (F) tcc (S) atc (I) cgg (R) cag (Q) atc (I) cgg (R) cag (Q) cac (H) agc (S) tgg (W) ttc (F) cgg (R) aag (K) aaa (K) cat (H) cct (P) ccg (P) gct (A) gaa (E) gca (A) cca (P) gtg (V) ccc (P) atc (I) cca (P) ccg (P) agc (S) cca (P) gac (D) acc (T) aag (K) gac (D) cgg (R) tgg (W) cgc (R) agc (S) atg (M) act (T) gtg (V) gtg (V) ccg (P) tac (Y) ttg (L) gag (E) gac (D) ctg (L) cac (H) ggc (G) gcg (A) gac (D) gag (E) gac (D) gag (E) gac (D) ctc (L) ttc (F) gac (D) atc (I) gag (E) gat (D) gac (D) atc (I) atc (I) tac (Y) act (T) cag (Q) gac (D) ttc (F) acg (T) gtg (V) ccc (P) gga (G) cag (Q) gtc (V) cca (P) gaa (E) gag (E) gag (E) gcc (A) agt (S) cac (H) aat (N) gga (G) cag (Q) cgc (R) cgg (R) ggc (G) ctc (L) ccc (P) aag (K) gcc (A) gtg (V) tgt (C) atg (M) aac (N) ggc (G) aca (T) gag (E) gcg (A) gcg (A) cag (Q) ctg (L) agc (S) acc (T) aaa (K) tcc (S) agg (R) gcg (A) gag (E) ggc (G) cgg (R) gcc (A) ccc (P) aac (N) cct (P) gcc (A) cgc (R) aag (K) gcc (A) tgc (C) tcc (S) gcc (A) agc (S) agc (S) aag (K) atc (I) cgc (R) cgg (R) ctg (L) tcg (S) gcc (A) tgc (C) aag (K) cag (Q) cag (Q) tga (TER) wt inframe deln region length = 434 first wt aa affected by inframe deletion is : atg (M) 1 M 434 * lung STK11 1 c.1_1302del1302 p.M1_*434del length of cdnaseq = 1302 length of protseq = 433 1 1302 1302 1302 1 1 434 3 atggaggtggtggacccgcagcagctgggcatgttcacggagggcgagctgatgtcggtgggtatggacacgttcatccaccgcatcgactccaccgaggtcatctaccagccgcgccgcaagcgggccaagctcatcggcaagtacctgatgggggacctgctgggggaaggctcttacggcaaggtgaaggaggtgctggactcggagacgctgtgcaggagggccgtcaagatcctcaagaagaagaagttgcgaaggatccccaacggggaggccaacgtgaagaaggaaattcaactactgaggaggttacggcacaaaaatgtcatccagctggtggatgtgttatacaacgaagagaagcagaaaatgtatatggtgatggagtactgcgtgtgtggcatgcaggaaatgctggacagcgtgccggagaagcgtttcccagtgtgccaggcccacgggtacttctgtcagctgattgacggcctggagtacctgcatagccagggcattgtgcacaaggacatcaagccggggaacctgctgctcaccaccggtggcaccctcaaaatctccgacctgggcgtggccgaggcactgcacccgttcgcggcggacgacacctgccggaccagccagggctccccggctttccagccgcccgagattgccaacggcctggacaccttctccggcttcaaggtggacatctggtcggctggggtcaccctctacaacatcaccacgggtctgtaccccttcgaaggggacaacatctacaagttgtttgagaacatcgggaaggggagctacgccatcccgggcgactgtggccccccgctctctgacctgctgaaagggatgcttgagtacgaaccggccaagaggttctccatccggcagatccggcagcacagctggttccggaagaaacatcctccggctgaagcaccagtgcccatcccaccgagcccagacaccaaggaccggtggcgcagcatgactgtggtgccgtacttggaggacctgcacggcgcggacgaggacgaggacctcttcgacatcgaggatgacatcatctacactcaggacttcacggtgcccggacaggtcccagaagaggaggccagtcacaatggacagcgccggggcctccccaaggccgtgtgtatgaacggcacagaggcggcgcagctgagcaccaaatccagggcggagggccgggcccccaaccctgcccgcaaggcctgctccgccagcagcaagatccgccggctgtcggcctgcaagcagcagtga Total no. of codons in cdna seq = 434 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) gtg (V) gtg (V) gac (D) ccg (P) cag (Q) cag (Q) ctg (L) ggc (G) atg (M) ttc (F) acg (T) gag (E) ggc (G) gag (E) ctg (L) atg (M) tcg (S) gtg (V) ggt (G) atg (M) gac (D) acg (T) ttc (F) atc (I) cac (H) cgc (R) atc (I) gac (D) tcc (S) acc (T) gag (E) gtc (V) atc (I) tac (Y) cag (Q) ccg (P) cgc (R) cgc (R) aag (K) cgg (R) gcc (A) aag (K) ctc (L) atc (I) ggc (G) aag (K) tac (Y) ctg (L) atg (M) ggg (G) gac (D) ctg (L) ctg (L) ggg (G) gaa (E) ggc (G) tct (S) tac (Y) ggc (G) aag (K) gtg (V) aag (K) gag (E) gtg (V) ctg (L) gac (D) tcg (S) gag (E) acg (T) ctg (L) tgc (C) agg (R) agg (R) gcc (A) gtc (V) aag (K) atc (I) ctc (L) aag (K) aag (K) aag (K) aag (K) ttg (L) cga (R) agg (R) atc (I) ccc (P) aac (N) ggg (G) gag (E) gcc (A) aac (N) gtg (V) aag (K) aag (K) gaa (E) att (I) caa (Q) cta (L) ctg (L) agg (R) agg (R) tta (L) cgg (R) cac (H) aaa (K) aat (N) gtc (V) atc (I) cag (Q) ctg (L) gtg (V) gat (D) gtg (V) tta (L) tac (Y) aac (N) gaa (E) gag (E) aag (K) cag (Q) aaa (K) atg (M) tat (Y) atg (M) gtg (V) atg (M) gag (E) tac (Y) tgc (C) gtg (V) tgt (C) ggc (G) atg (M) cag (Q) gaa (E) atg (M) ctg (L) gac (D) agc (S) gtg (V) ccg (P) gag (E) aag (K) cgt (R) ttc (F) cca (P) gtg (V) tgc (C) cag (Q) gcc (A) cac (H) ggg (G) tac (Y) ttc (F) tgt (C) cag (Q) ctg (L) att (I) gac (D) ggc (G) ctg (L) gag (E) tac (Y) ctg (L) cat (H) agc (S) cag (Q) ggc (G) att (I) gtg (V) cac (H) aag (K) gac (D) atc (I) aag (K) ccg (P) ggg (G) aac (N) ctg (L) ctg (L) ctc (L) acc (T) acc (T) ggt (G) ggc (G) acc (T) ctc (L) aaa (K) atc (I) tcc (S) gac (D) ctg (L) ggc (G) gtg (V) gcc (A) gag (E) gca (A) ctg (L) cac (H) ccg (P) ttc (F) gcg (A) gcg (A) gac (D) gac (D) acc (T) tgc (C) cgg (R) acc (T) agc (S) cag (Q) ggc (G) tcc (S) ccg (P) gct (A) ttc (F) cag (Q) ccg (P) ccc (P) gag (E) att (I) gcc (A) aac (N) ggc (G) ctg (L) gac (D) acc (T) ttc (F) tcc (S) ggc (G) ttc (F) aag (K) gtg (V) gac (D) atc (I) tgg (W) tcg (S) gct (A) ggg (G) gtc (V) acc (T) ctc (L) tac (Y) aac (N) atc (I) acc (T) acg (T) ggt (G) ctg (L) tac (Y) ccc (P) ttc (F) gaa (E) ggg (G) gac (D) aac (N) atc (I) tac (Y) aag (K) ttg (L) ttt (F) gag (E) aac (N) atc (I) ggg (G) aag (K) ggg (G) agc (S) tac (Y) gcc (A) atc (I) ccg (P) ggc (G) gac (D) tgt (C) ggc (G) ccc (P) ccg (P) ctc (L) tct (S) gac (D) ctg (L) ctg (L) aaa (K) ggg (G) atg (M) ctt (L) gag (E) tac (Y) gaa (E) ccg (P) gcc (A) aag (K) agg (R) ttc (F) tcc (S) atc (I) cgg (R) cag (Q) atc (I) cgg (R) cag (Q) cac (H) agc (S) tgg (W) ttc (F) cgg (R) aag (K) aaa (K) cat (H) cct (P) ccg (P) gct (A) gaa (E) gca (A) cca (P) gtg (V) ccc (P) atc (I) cca (P) ccg (P) agc (S) cca (P) gac (D) acc (T) aag (K) gac (D) cgg (R) tgg (W) cgc (R) agc (S) atg (M) act (T) gtg (V) gtg (V) ccg (P) tac (Y) ttg (L) gag (E) gac (D) ctg (L) cac (H) ggc (G) gcg (A) gac (D) gag (E) gac (D) gag (E) gac (D) ctc (L) ttc (F) gac (D) atc (I) gag (E) gat (D) gac (D) atc (I) atc (I) tac (Y) act (T) cag (Q) gac (D) ttc (F) acg (T) gtg (V) ccc (P) gga (G) cag (Q) gtc (V) cca (P) gaa (E) gag (E) gag (E) gcc (A) agt (S) cac (H) aat (N) gga (G) cag (Q) cgc (R) cgg (R) ggc (G) ctc (L) ccc (P) aag (K) gcc (A) gtg (V) tgt (C) atg (M) aac (N) ggc (G) aca (T) gag (E) gcg (A) gcg (A) cag (Q) ctg (L) agc (S) acc (T) aaa (K) tcc (S) agg (R) gcg (A) gag (E) ggc (G) cgg (R) gcc (A) ccc (P) aac (N) cct (P) gcc (A) cgc (R) aag (K) gcc (A) tgc (C) tcc (S) gcc (A) agc (S) agc (S) aag (K) atc (I) cgc (R) cgg (R) ctg (L) tcg (S) gcc (A) tgc (C) aag (K) cag (Q) cag (Q) tga (TER) wt inframe deln region length = 434 first wt aa affected by inframe deletion is : atg (M) 1 M 434 * lung STK11 1 c.126_149del24 p.A43_L50del length of cdnaseq = 1302 length of protseq = 433 126 149 24 24 42 3 50 2 ggccaagctcatcggcaagtacct Total no. of codons in cdna seq = 434 cgg ctg start g-g end t-g cg- --g cgg (R) length of cdnaseq after deletion = 1278 ter codon is tga at posn 426 Protein length after deletion = 425 Total no. of codons in del cdnaseq = 426 last codon in array is tga cgc (R) aag (K) cgg (R) ctg (L) atg (M) ggg (G) gac (D) ctg (L) cgc (R) aag (K) cgg (R) atg (M) ggg (G) gac (D) wild type sequence in deletion region: cgg (R) gcc (A) aag (K) ctc (L) atc (I) ggc (G) aag (K) tac (Y) ctg (L) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : gcc (A) 43 A 50 L lung STK11 1 c.153_536del384 p.G52_P179del length of cdnaseq = 1302 length of protseq = 433 153 536 384 384 51 3 179 2 gggggacctgctgggggaaggctcttacggcaaggtgaaggaggtgctggactcggagacgctgtgcaggagggccgtcaagatcctcaagaagaagaagttgcgaaggatccccaacggggaggccaacgtgaagaaggaaattcaactactgaggaggttacggcacaaaaatgtcatccagctggtggatgtgttatacaacgaagagaagcagaaaatgtatatggtgatggagtactgcgtgtgtggcatgcaggaaatgctggacagcgtgccggagaagcgtttcccagtgtgccaggcccacgggtacttctgtcagctgattgacggcctggagtacctgcatagccagggcattgtgcacaaggacatcaagcc Total no. of codons in cdna seq = 434 atg ccg start t-g end c-g at- --g atg (M) length of cdnaseq after deletion = 918 ter codon is tga at posn 306 Protein length after deletion = 305 Total no. of codons in del cdnaseq = 306 last codon in array is tga tac (Y) ctg (L) atg (M) ccg (P) ggg (G) aac (N) ctg (L) ctg (L) tac (Y) ctg (L) atg (M) ggg (G) aac (N) ctg (L) wild type sequence in deletion region: atg (M) ggg (G) gac (D) ctg (L) ctg (L) ggg (G) gaa (E) ggc (G) tct (S) tac (Y) ggc (G) aag (K) gtg (V) aag (K) gag (E) gtg (V) ctg (L) gac (D) tcg (S) gag (E) acg (T) ctg (L) tgc (C) agg (R) agg (R) gcc (A) gtc (V) aag (K) atc (I) ctc (L) aag (K) aag (K) aag (K) aag (K) ttg (L) cga (R) agg (R) atc (I) ccc (P) aac (N) ggg (G) gag (E) gcc (A) aac (N) gtg (V) aag (K) aag (K) gaa (E) att (I) caa (Q) cta (L) ctg (L) agg (R) agg (R) tta (L) cgg (R) cac (H) aaa (K) aat (N) gtc (V) atc (I) cag (Q) ctg (L) gtg (V) gat (D) gtg (V) tta (L) tac (Y) aac (N) gaa (E) gag (E) aag (K) cag (Q) aaa (K) atg (M) tat (Y) atg (M) gtg (V) atg (M) gag (E) tac (Y) tgc (C) gtg (V) tgt (C) ggc (G) atg (M) cag (Q) gaa (E) atg (M) ctg (L) gac (D) agc (S) gtg (V) ccg (P) gag (E) aag (K) cgt (R) ttc (F) cca (P) gtg (V) tgc (C) cag (Q) gcc (A) cac (H) ggg (G) tac (Y) ttc (F) tgt (C) cag (Q) ctg (L) att (I) gac (D) ggc (G) ctg (L) gag (E) tac (Y) ctg (L) cat (H) agc (S) cag (Q) ggc (G) att (I) gtg (V) cac (H) aag (K) gac (D) atc (I) aag (K) ccg (P) wt inframe deln region length = 129 first wt aa affected by inframe deletion is : ggg (G) 52 G 179 P lung STK11 1 c.544_546delCTG p.L182del length of cdnaseq = 1302 length of protseq = 433 544 546 CTG 3 182 1 182 3 ctg Total no. of codons in cdna seq = 434 ctg ctg prev c start c-c post c end g-c --- --- No joining codon length of cdnaseq after deletion = 1299 ter codon is tga at posn 433 Protein length after deletion = 432 Total no. of codons in del cdnaseq = 433 last codon in array is tga ggg (G) aac (N) ctg (L) ctg (L) ctg (L) ctc (L) acc (T) acc (T) ggg (G) aac (N) ctg (L) ctc (L) acc (T) acc (T) wild type sequence in deletion region: ctg (L) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : ggg (G) 182 L 182 L - G L 1 lung STK11 c.544_546delCTG p.L182del oesophagus STK11 1 c.1_1302del1302 p.M1_*434del length of cdnaseq = 1302 length of protseq = 433 1 1302 1302 1302 1 1 434 3 atggaggtggtggacccgcagcagctgggcatgttcacggagggcgagctgatgtcggtgggtatggacacgttcatccaccgcatcgactccaccgaggtcatctaccagccgcgccgcaagcgggccaagctcatcggcaagtacctgatgggggacctgctgggggaaggctcttacggcaaggtgaaggaggtgctggactcggagacgctgtgcaggagggccgtcaagatcctcaagaagaagaagttgcgaaggatccccaacggggaggccaacgtgaagaaggaaattcaactactgaggaggttacggcacaaaaatgtcatccagctggtggatgtgttatacaacgaagagaagcagaaaatgtatatggtgatggagtactgcgtgtgtggcatgcaggaaatgctggacagcgtgccggagaagcgtttcccagtgtgccaggcccacgggtacttctgtcagctgattgacggcctggagtacctgcatagccagggcattgtgcacaaggacatcaagccggggaacctgctgctcaccaccggtggcaccctcaaaatctccgacctgggcgtggccgaggcactgcacccgttcgcggcggacgacacctgccggaccagccagggctccccggctttccagccgcccgagattgccaacggcctggacaccttctccggcttcaaggtggacatctggtcggctggggtcaccctctacaacatcaccacgggtctgtaccccttcgaaggggacaacatctacaagttgtttgagaacatcgggaaggggagctacgccatcccgggcgactgtggccccccgctctctgacctgctgaaagggatgcttgagtacgaaccggccaagaggttctccatccggcagatccggcagcacagctggttccggaagaaacatcctccggctgaagcaccagtgcccatcccaccgagcccagacaccaaggaccggtggcgcagcatgactgtggtgccgtacttggaggacctgcacggcgcggacgaggacgaggacctcttcgacatcgaggatgacatcatctacactcaggacttcacggtgcccggacaggtcccagaagaggaggccagtcacaatggacagcgccggggcctccccaaggccgtgtgtatgaacggcacagaggcggcgcagctgagcaccaaatccagggcggagggccgggcccccaaccctgcccgcaaggcctgctccgccagcagcaagatccgccggctgtcggcctgcaagcagcagtga Total no. of codons in cdna seq = 434 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) gtg (V) gtg (V) gac (D) ccg (P) cag (Q) cag (Q) ctg (L) ggc (G) atg (M) ttc (F) acg (T) gag (E) ggc (G) gag (E) ctg (L) atg (M) tcg (S) gtg (V) ggt (G) atg (M) gac (D) acg (T) ttc (F) atc (I) cac (H) cgc (R) atc (I) gac (D) tcc (S) acc (T) gag (E) gtc (V) atc (I) tac (Y) cag (Q) ccg (P) cgc (R) cgc (R) aag (K) cgg (R) gcc (A) aag (K) ctc (L) atc (I) ggc (G) aag (K) tac (Y) ctg (L) atg (M) ggg (G) gac (D) ctg (L) ctg (L) ggg (G) gaa (E) ggc (G) tct (S) tac (Y) ggc (G) aag (K) gtg (V) aag (K) gag (E) gtg (V) ctg (L) gac (D) tcg (S) gag (E) acg (T) ctg (L) tgc (C) agg (R) agg (R) gcc (A) gtc (V) aag (K) atc (I) ctc (L) aag (K) aag (K) aag (K) aag (K) ttg (L) cga (R) agg (R) atc (I) ccc (P) aac (N) ggg (G) gag (E) gcc (A) aac (N) gtg (V) aag (K) aag (K) gaa (E) att (I) caa (Q) cta (L) ctg (L) agg (R) agg (R) tta (L) cgg (R) cac (H) aaa (K) aat (N) gtc (V) atc (I) cag (Q) ctg (L) gtg (V) gat (D) gtg (V) tta (L) tac (Y) aac (N) gaa (E) gag (E) aag (K) cag (Q) aaa (K) atg (M) tat (Y) atg (M) gtg (V) atg (M) gag (E) tac (Y) tgc (C) gtg (V) tgt (C) ggc (G) atg (M) cag (Q) gaa (E) atg (M) ctg (L) gac (D) agc (S) gtg (V) ccg (P) gag (E) aag (K) cgt (R) ttc (F) cca (P) gtg (V) tgc (C) cag (Q) gcc (A) cac (H) ggg (G) tac (Y) ttc (F) tgt (C) cag (Q) ctg (L) att (I) gac (D) ggc (G) ctg (L) gag (E) tac (Y) ctg (L) cat (H) agc (S) cag (Q) ggc (G) att (I) gtg (V) cac (H) aag (K) gac (D) atc (I) aag (K) ccg (P) ggg (G) aac (N) ctg (L) ctg (L) ctc (L) acc (T) acc (T) ggt (G) ggc (G) acc (T) ctc (L) aaa (K) atc (I) tcc (S) gac (D) ctg (L) ggc (G) gtg (V) gcc (A) gag (E) gca (A) ctg (L) cac (H) ccg (P) ttc (F) gcg (A) gcg (A) gac (D) gac (D) acc (T) tgc (C) cgg (R) acc (T) agc (S) cag (Q) ggc (G) tcc (S) ccg (P) gct (A) ttc (F) cag (Q) ccg (P) ccc (P) gag (E) att (I) gcc (A) aac (N) ggc (G) ctg (L) gac (D) acc (T) ttc (F) tcc (S) ggc (G) ttc (F) aag (K) gtg (V) gac (D) atc (I) tgg (W) tcg (S) gct (A) ggg (G) gtc (V) acc (T) ctc (L) tac (Y) aac (N) atc (I) acc (T) acg (T) ggt (G) ctg (L) tac (Y) ccc (P) ttc (F) gaa (E) ggg (G) gac (D) aac (N) atc (I) tac (Y) aag (K) ttg (L) ttt (F) gag (E) aac (N) atc (I) ggg (G) aag (K) ggg (G) agc (S) tac (Y) gcc (A) atc (I) ccg (P) ggc (G) gac (D) tgt (C) ggc (G) ccc (P) ccg (P) ctc (L) tct (S) gac (D) ctg (L) ctg (L) aaa (K) ggg (G) atg (M) ctt (L) gag (E) tac (Y) gaa (E) ccg (P) gcc (A) aag (K) agg (R) ttc (F) tcc (S) atc (I) cgg (R) cag (Q) atc (I) cgg (R) cag (Q) cac (H) agc (S) tgg (W) ttc (F) cgg (R) aag (K) aaa (K) cat (H) cct (P) ccg (P) gct (A) gaa (E) gca (A) cca (P) gtg (V) ccc (P) atc (I) cca (P) ccg (P) agc (S) cca (P) gac (D) acc (T) aag (K) gac (D) cgg (R) tgg (W) cgc (R) agc (S) atg (M) act (T) gtg (V) gtg (V) ccg (P) tac (Y) ttg (L) gag (E) gac (D) ctg (L) cac (H) ggc (G) gcg (A) gac (D) gag (E) gac (D) gag (E) gac (D) ctc (L) ttc (F) gac (D) atc (I) gag (E) gat (D) gac (D) atc (I) atc (I) tac (Y) act (T) cag (Q) gac (D) ttc (F) acg (T) gtg (V) ccc (P) gga (G) cag (Q) gtc (V) cca (P) gaa (E) gag (E) gag (E) gcc (A) agt (S) cac (H) aat (N) gga (G) cag (Q) cgc (R) cgg (R) ggc (G) ctc (L) ccc (P) aag (K) gcc (A) gtg (V) tgt (C) atg (M) aac (N) ggc (G) aca (T) gag (E) gcg (A) gcg (A) cag (Q) ctg (L) agc (S) acc (T) aaa (K) tcc (S) agg (R) gcg (A) gag (E) ggc (G) cgg (R) gcc (A) ccc (P) aac (N) cct (P) gcc (A) cgc (R) aag (K) gcc (A) tgc (C) tcc (S) gcc (A) agc (S) agc (S) aag (K) atc (I) cgc (R) cgg (R) ctg (L) tcg (S) gcc (A) tgc (C) aag (K) cag (Q) cag (Q) tga (TER) wt inframe deln region length = 434 first wt aa affected by inframe deletion is : atg (M) 1 M 434 * ovary STK11 1 c.1_1302del1302 p.M1_*434del length of cdnaseq = 1302 length of protseq = 433 1 1302 1302 1302 1 1 434 3 atggaggtggtggacccgcagcagctgggcatgttcacggagggcgagctgatgtcggtgggtatggacacgttcatccaccgcatcgactccaccgaggtcatctaccagccgcgccgcaagcgggccaagctcatcggcaagtacctgatgggggacctgctgggggaaggctcttacggcaaggtgaaggaggtgctggactcggagacgctgtgcaggagggccgtcaagatcctcaagaagaagaagttgcgaaggatccccaacggggaggccaacgtgaagaaggaaattcaactactgaggaggttacggcacaaaaatgtcatccagctggtggatgtgttatacaacgaagagaagcagaaaatgtatatggtgatggagtactgcgtgtgtggcatgcaggaaatgctggacagcgtgccggagaagcgtttcccagtgtgccaggcccacgggtacttctgtcagctgattgacggcctggagtacctgcatagccagggcattgtgcacaaggacatcaagccggggaacctgctgctcaccaccggtggcaccctcaaaatctccgacctgggcgtggccgaggcactgcacccgttcgcggcggacgacacctgccggaccagccagggctccccggctttccagccgcccgagattgccaacggcctggacaccttctccggcttcaaggtggacatctggtcggctggggtcaccctctacaacatcaccacgggtctgtaccccttcgaaggggacaacatctacaagttgtttgagaacatcgggaaggggagctacgccatcccgggcgactgtggccccccgctctctgacctgctgaaagggatgcttgagtacgaaccggccaagaggttctccatccggcagatccggcagcacagctggttccggaagaaacatcctccggctgaagcaccagtgcccatcccaccgagcccagacaccaaggaccggtggcgcagcatgactgtggtgccgtacttggaggacctgcacggcgcggacgaggacgaggacctcttcgacatcgaggatgacatcatctacactcaggacttcacggtgcccggacaggtcccagaagaggaggccagtcacaatggacagcgccggggcctccccaaggccgtgtgtatgaacggcacagaggcggcgcagctgagcaccaaatccagggcggagggccgggcccccaaccctgcccgcaaggcctgctccgccagcagcaagatccgccggctgtcggcctgcaagcagcagtga Total no. of codons in cdna seq = 434 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) gtg (V) gtg (V) gac (D) ccg (P) cag (Q) cag (Q) ctg (L) ggc (G) atg (M) ttc (F) acg (T) gag (E) ggc (G) gag (E) ctg (L) atg (M) tcg (S) gtg (V) ggt (G) atg (M) gac (D) acg (T) ttc (F) atc (I) cac (H) cgc (R) atc (I) gac (D) tcc (S) acc (T) gag (E) gtc (V) atc (I) tac (Y) cag (Q) ccg (P) cgc (R) cgc (R) aag (K) cgg (R) gcc (A) aag (K) ctc (L) atc (I) ggc (G) aag (K) tac (Y) ctg (L) atg (M) ggg (G) gac (D) ctg (L) ctg (L) ggg (G) gaa (E) ggc (G) tct (S) tac (Y) ggc (G) aag (K) gtg (V) aag (K) gag (E) gtg (V) ctg (L) gac (D) tcg (S) gag (E) acg (T) ctg (L) tgc (C) agg (R) agg (R) gcc (A) gtc (V) aag (K) atc (I) ctc (L) aag (K) aag (K) aag (K) aag (K) ttg (L) cga (R) agg (R) atc (I) ccc (P) aac (N) ggg (G) gag (E) gcc (A) aac (N) gtg (V) aag (K) aag (K) gaa (E) att (I) caa (Q) cta (L) ctg (L) agg (R) agg (R) tta (L) cgg (R) cac (H) aaa (K) aat (N) gtc (V) atc (I) cag (Q) ctg (L) gtg (V) gat (D) gtg (V) tta (L) tac (Y) aac (N) gaa (E) gag (E) aag (K) cag (Q) aaa (K) atg (M) tat (Y) atg (M) gtg (V) atg (M) gag (E) tac (Y) tgc (C) gtg (V) tgt (C) ggc (G) atg (M) cag (Q) gaa (E) atg (M) ctg (L) gac (D) agc (S) gtg (V) ccg (P) gag (E) aag (K) cgt (R) ttc (F) cca (P) gtg (V) tgc (C) cag (Q) gcc (A) cac (H) ggg (G) tac (Y) ttc (F) tgt (C) cag (Q) ctg (L) att (I) gac (D) ggc (G) ctg (L) gag (E) tac (Y) ctg (L) cat (H) agc (S) cag (Q) ggc (G) att (I) gtg (V) cac (H) aag (K) gac (D) atc (I) aag (K) ccg (P) ggg (G) aac (N) ctg (L) ctg (L) ctc (L) acc (T) acc (T) ggt (G) ggc (G) acc (T) ctc (L) aaa (K) atc (I) tcc (S) gac (D) ctg (L) ggc (G) gtg (V) gcc (A) gag (E) gca (A) ctg (L) cac (H) ccg (P) ttc (F) gcg (A) gcg (A) gac (D) gac (D) acc (T) tgc (C) cgg (R) acc (T) agc (S) cag (Q) ggc (G) tcc (S) ccg (P) gct (A) ttc (F) cag (Q) ccg (P) ccc (P) gag (E) att (I) gcc (A) aac (N) ggc (G) ctg (L) gac (D) acc (T) ttc (F) tcc (S) ggc (G) ttc (F) aag (K) gtg (V) gac (D) atc (I) tgg (W) tcg (S) gct (A) ggg (G) gtc (V) acc (T) ctc (L) tac (Y) aac (N) atc (I) acc (T) acg (T) ggt (G) ctg (L) tac (Y) ccc (P) ttc (F) gaa (E) ggg (G) gac (D) aac (N) atc (I) tac (Y) aag (K) ttg (L) ttt (F) gag (E) aac (N) atc (I) ggg (G) aag (K) ggg (G) agc (S) tac (Y) gcc (A) atc (I) ccg (P) ggc (G) gac (D) tgt (C) ggc (G) ccc (P) ccg (P) ctc (L) tct (S) gac (D) ctg (L) ctg (L) aaa (K) ggg (G) atg (M) ctt (L) gag (E) tac (Y) gaa (E) ccg (P) gcc (A) aag (K) agg (R) ttc (F) tcc (S) atc (I) cgg (R) cag (Q) atc (I) cgg (R) cag (Q) cac (H) agc (S) tgg (W) ttc (F) cgg (R) aag (K) aaa (K) cat (H) cct (P) ccg (P) gct (A) gaa (E) gca (A) cca (P) gtg (V) ccc (P) atc (I) cca (P) ccg (P) agc (S) cca (P) gac (D) acc (T) aag (K) gac (D) cgg (R) tgg (W) cgc (R) agc (S) atg (M) act (T) gtg (V) gtg (V) ccg (P) tac (Y) ttg (L) gag (E) gac (D) ctg (L) cac (H) ggc (G) gcg (A) gac (D) gag (E) gac (D) gag (E) gac (D) ctc (L) ttc (F) gac (D) atc (I) gag (E) gat (D) gac (D) atc (I) atc (I) tac (Y) act (T) cag (Q) gac (D) ttc (F) acg (T) gtg (V) ccc (P) gga (G) cag (Q) gtc (V) cca (P) gaa (E) gag (E) gag (E) gcc (A) agt (S) cac (H) aat (N) gga (G) cag (Q) cgc (R) cgg (R) ggc (G) ctc (L) ccc (P) aag (K) gcc (A) gtg (V) tgt (C) atg (M) aac (N) ggc (G) aca (T) gag (E) gcg (A) gcg (A) cag (Q) ctg (L) agc (S) acc (T) aaa (K) tcc (S) agg (R) gcg (A) gag (E) ggc (G) cgg (R) gcc (A) ccc (P) aac (N) cct (P) gcc (A) cgc (R) aag (K) gcc (A) tgc (C) tcc (S) gcc (A) agc (S) agc (S) aag (K) atc (I) cgc (R) cgg (R) ctg (L) tcg (S) gcc (A) tgc (C) aag (K) cag (Q) cag (Q) tga (TER) wt inframe deln region length = 434 first wt aa affected by inframe deletion is : atg (M) 1 M 434 * pancreas STK11 1 c.1_1302del1302 p.M1_*434del length of cdnaseq = 1302 length of protseq = 433 1 1302 1302 1302 1 1 434 3 atggaggtggtggacccgcagcagctgggcatgttcacggagggcgagctgatgtcggtgggtatggacacgttcatccaccgcatcgactccaccgaggtcatctaccagccgcgccgcaagcgggccaagctcatcggcaagtacctgatgggggacctgctgggggaaggctcttacggcaaggtgaaggaggtgctggactcggagacgctgtgcaggagggccgtcaagatcctcaagaagaagaagttgcgaaggatccccaacggggaggccaacgtgaagaaggaaattcaactactgaggaggttacggcacaaaaatgtcatccagctggtggatgtgttatacaacgaagagaagcagaaaatgtatatggtgatggagtactgcgtgtgtggcatgcaggaaatgctggacagcgtgccggagaagcgtttcccagtgtgccaggcccacgggtacttctgtcagctgattgacggcctggagtacctgcatagccagggcattgtgcacaaggacatcaagccggggaacctgctgctcaccaccggtggcaccctcaaaatctccgacctgggcgtggccgaggcactgcacccgttcgcggcggacgacacctgccggaccagccagggctccccggctttccagccgcccgagattgccaacggcctggacaccttctccggcttcaaggtggacatctggtcggctggggtcaccctctacaacatcaccacgggtctgtaccccttcgaaggggacaacatctacaagttgtttgagaacatcgggaaggggagctacgccatcccgggcgactgtggccccccgctctctgacctgctgaaagggatgcttgagtacgaaccggccaagaggttctccatccggcagatccggcagcacagctggttccggaagaaacatcctccggctgaagcaccagtgcccatcccaccgagcccagacaccaaggaccggtggcgcagcatgactgtggtgccgtacttggaggacctgcacggcgcggacgaggacgaggacctcttcgacatcgaggatgacatcatctacactcaggacttcacggtgcccggacaggtcccagaagaggaggccagtcacaatggacagcgccggggcctccccaaggccgtgtgtatgaacggcacagaggcggcgcagctgagcaccaaatccagggcggagggccgggcccccaaccctgcccgcaaggcctgctccgccagcagcaagatccgccggctgtcggcctgcaagcagcagtga Total no. of codons in cdna seq = 434 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) gtg (V) gtg (V) gac (D) ccg (P) cag (Q) cag (Q) ctg (L) ggc (G) atg (M) ttc (F) acg (T) gag (E) ggc (G) gag (E) ctg (L) atg (M) tcg (S) gtg (V) ggt (G) atg (M) gac (D) acg (T) ttc (F) atc (I) cac (H) cgc (R) atc (I) gac (D) tcc (S) acc (T) gag (E) gtc (V) atc (I) tac (Y) cag (Q) ccg (P) cgc (R) cgc (R) aag (K) cgg (R) gcc (A) aag (K) ctc (L) atc (I) ggc (G) aag (K) tac (Y) ctg (L) atg (M) ggg (G) gac (D) ctg (L) ctg (L) ggg (G) gaa (E) ggc (G) tct (S) tac (Y) ggc (G) aag (K) gtg (V) aag (K) gag (E) gtg (V) ctg (L) gac (D) tcg (S) gag (E) acg (T) ctg (L) tgc (C) agg (R) agg (R) gcc (A) gtc (V) aag (K) atc (I) ctc (L) aag (K) aag (K) aag (K) aag (K) ttg (L) cga (R) agg (R) atc (I) ccc (P) aac (N) ggg (G) gag (E) gcc (A) aac (N) gtg (V) aag (K) aag (K) gaa (E) att (I) caa (Q) cta (L) ctg (L) agg (R) agg (R) tta (L) cgg (R) cac (H) aaa (K) aat (N) gtc (V) atc (I) cag (Q) ctg (L) gtg (V) gat (D) gtg (V) tta (L) tac (Y) aac (N) gaa (E) gag (E) aag (K) cag (Q) aaa (K) atg (M) tat (Y) atg (M) gtg (V) atg (M) gag (E) tac (Y) tgc (C) gtg (V) tgt (C) ggc (G) atg (M) cag (Q) gaa (E) atg (M) ctg (L) gac (D) agc (S) gtg (V) ccg (P) gag (E) aag (K) cgt (R) ttc (F) cca (P) gtg (V) tgc (C) cag (Q) gcc (A) cac (H) ggg (G) tac (Y) ttc (F) tgt (C) cag (Q) ctg (L) att (I) gac (D) ggc (G) ctg (L) gag (E) tac (Y) ctg (L) cat (H) agc (S) cag (Q) ggc (G) att (I) gtg (V) cac (H) aag (K) gac (D) atc (I) aag (K) ccg (P) ggg (G) aac (N) ctg (L) ctg (L) ctc (L) acc (T) acc (T) ggt (G) ggc (G) acc (T) ctc (L) aaa (K) atc (I) tcc (S) gac (D) ctg (L) ggc (G) gtg (V) gcc (A) gag (E) gca (A) ctg (L) cac (H) ccg (P) ttc (F) gcg (A) gcg (A) gac (D) gac (D) acc (T) tgc (C) cgg (R) acc (T) agc (S) cag (Q) ggc (G) tcc (S) ccg (P) gct (A) ttc (F) cag (Q) ccg (P) ccc (P) gag (E) att (I) gcc (A) aac (N) ggc (G) ctg (L) gac (D) acc (T) ttc (F) tcc (S) ggc (G) ttc (F) aag (K) gtg (V) gac (D) atc (I) tgg (W) tcg (S) gct (A) ggg (G) gtc (V) acc (T) ctc (L) tac (Y) aac (N) atc (I) acc (T) acg (T) ggt (G) ctg (L) tac (Y) ccc (P) ttc (F) gaa (E) ggg (G) gac (D) aac (N) atc (I) tac (Y) aag (K) ttg (L) ttt (F) gag (E) aac (N) atc (I) ggg (G) aag (K) ggg (G) agc (S) tac (Y) gcc (A) atc (I) ccg (P) ggc (G) gac (D) tgt (C) ggc (G) ccc (P) ccg (P) ctc (L) tct (S) gac (D) ctg (L) ctg (L) aaa (K) ggg (G) atg (M) ctt (L) gag (E) tac (Y) gaa (E) ccg (P) gcc (A) aag (K) agg (R) ttc (F) tcc (S) atc (I) cgg (R) cag (Q) atc (I) cgg (R) cag (Q) cac (H) agc (S) tgg (W) ttc (F) cgg (R) aag (K) aaa (K) cat (H) cct (P) ccg (P) gct (A) gaa (E) gca (A) cca (P) gtg (V) ccc (P) atc (I) cca (P) ccg (P) agc (S) cca (P) gac (D) acc (T) aag (K) gac (D) cgg (R) tgg (W) cgc (R) agc (S) atg (M) act (T) gtg (V) gtg (V) ccg (P) tac (Y) ttg (L) gag (E) gac (D) ctg (L) cac (H) ggc (G) gcg (A) gac (D) gag (E) gac (D) gag (E) gac (D) ctc (L) ttc (F) gac (D) atc (I) gag (E) gat (D) gac (D) atc (I) atc (I) tac (Y) act (T) cag (Q) gac (D) ttc (F) acg (T) gtg (V) ccc (P) gga (G) cag (Q) gtc (V) cca (P) gaa (E) gag (E) gag (E) gcc (A) agt (S) cac (H) aat (N) gga (G) cag (Q) cgc (R) cgg (R) ggc (G) ctc (L) ccc (P) aag (K) gcc (A) gtg (V) tgt (C) atg (M) aac (N) ggc (G) aca (T) gag (E) gcg (A) gcg (A) cag (Q) ctg (L) agc (S) acc (T) aaa (K) tcc (S) agg (R) gcg (A) gag (E) ggc (G) cgg (R) gcc (A) ccc (P) aac (N) cct (P) gcc (A) cgc (R) aag (K) gcc (A) tgc (C) tcc (S) gcc (A) agc (S) agc (S) aag (K) atc (I) cgc (R) cgg (R) ctg (L) tcg (S) gcc (A) tgc (C) aag (K) cag (Q) cag (Q) tga (TER) wt inframe deln region length = 434 first wt aa affected by inframe deletion is : atg (M) 1 M 434 * lung STK11 3 c.291_464del174 p.E98_G155del length of cdnaseq = 1302 length of protseq = 433 291 464 174 174 97 3 155 2 ggaaattcaactactgaggaggttacggcacaaaaatgtcatccagctggtggatgtgttatacaacgaagagaagcagaaaatgtatatggtgatggagtactgcgtgtgtggcatgcaggaaatgctggacagcgtgccggagaagcgtttcccagtgtgccaggcccacgg Total no. of codons in cdna seq = 434 aag ggg start a-g end g-g aa- --g aag (K) length of cdnaseq after deletion = 1128 ter codon is tga at posn 376 Protein length after deletion = 375 Total no. of codons in del cdnaseq = 376 last codon in array is tga gtg (V) aag (K) aag (K) ggg (G) tac (Y) ttc (F) tgt (C) cag (Q) gtg (V) aag (K) aag (K) tac (Y) ttc (F) tgt (C) wild type sequence in deletion region: aag (K) gaa (E) att (I) caa (Q) cta (L) ctg (L) agg (R) agg (R) tta (L) cgg (R) cac (H) aaa (K) aat (N) gtc (V) atc (I) cag (Q) ctg (L) gtg (V) gat (D) gtg (V) tta (L) tac (Y) aac (N) gaa (E) gag (E) aag (K) cag (Q) aaa (K) atg (M) tat (Y) atg (M) gtg (V) atg (M) gag (E) tac (Y) tgc (C) gtg (V) tgt (C) ggc (G) atg (M) cag (Q) gaa (E) atg (M) ctg (L) gac (D) agc (S) gtg (V) ccg (P) gag (E) aag (K) cgt (R) ttc (F) cca (P) gtg (V) tgc (C) cag (Q) gcc (A) cac (H) ggg (G) wt inframe deln region length = 59 first wt aa affected by inframe deletion is : gaa (E) 98 E 155 G autonomic_ganglia TP53 1 c.846_848delGCG p.R283del length of cdnaseq = 1182 length of protseq = 393 846 848 GCG 3 282 3 283 2 gcg Total no. of codons in cdna seq = 394 cgg cgc start g-g end g-c cg- --c cgc (R) length of cdnaseq after deletion = 1179 ter codon is tga at posn 393 Protein length after deletion = 392 Total no. of codons in del cdnaseq = 393 last codon in array is tga aga (R) gac (D) cgg (R) cgc (R) aca (T) gag (E) gaa (E) gag (E) aga (R) gac (D) cgc (R) aca (T) gag (E) gaa (E) wild type sequence in deletion region: cgg (R) cgc (R) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cgc (R) 283 R 283 R - autonomic_ganglia TP53 1 c.846_848delGCG p.R283_T284>T length of cdnaseq = 1182 length of protseq = 393 846 848 GCG 3 282 3 283 2 gcg Total no. of codons in cdna seq = 394 cgg cgc start g-g end g-c cg- --c cgc (R) length of cdnaseq after deletion = 1179 ter codon is tga at posn 393 Protein length after deletion = 392 Total no. of codons in del cdnaseq = 393 last codon in array is tga aga (R) gac (D) cgg (R) cgc (R) aca (T) gag (E) gaa (E) gag (E) aga (R) gac (D) cgc (R) aca (T) gag (E) gaa (E) wild type sequence in deletion region: cgg (R) cgc (R) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cgc (R) 283 R 284 T T bone TP53 1 c.643_645delAGT p.S215del length of cdnaseq = 1182 length of protseq = 393 643 645 AGT 3 215 1 215 3 agt Total no. of codons in cdna seq = 394 agt agt prev t start t-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 1179 ter codon is tga at posn 393 Protein length after deletion = 392 Total no. of codons in del cdnaseq = 393 last codon in array is tga cga (R) cat (H) agt (S) agt (S) gtg (V) gtg (V) gtg (V) ccc (P) cga (R) cat (H) gtg (V) gtg (V) gtg (V) ccc (P) wild type sequence in deletion region: agt (S) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : agt (S) 215 S 215 S - central_nervous_system TP53 1 c.438_446delGGTTGATTC p.W146_S149>C length of cdnaseq = 1182 length of protseq = 393 438 446 GGTTGATTC 9 146 3 149 2 ggttgattc Total no. of codons in cdna seq = 394 tgg tcc start g-g end c-c tg- --c tgc (C) length of cdnaseq after deletion = 1173 ter codon is tga at posn 391 Protein length after deletion = 390 Total no. of codons in del cdnaseq = 391 last codon in array is tga cag (Q) ctg (L) tgg (W) tcc (S) aca (T) ccc (P) ccg (P) ccc (P) cag (Q) ctg (L) tgc (C) aca (T) ccc (P) ccg (P) wild type sequence in deletion region: tgg (W) gtt (V) gat (D) tcc (S) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : tgg (W) 146 W 149 S C cervix TP53 1 c.652_654delGTG p.V218del length of cdnaseq = 1182 length of protseq = 393 652 654 GTG 3 218 1 218 3 gtg Total no. of codons in cdna seq = 394 gtg gtg prev g start g-g post c end g-c --- --- No joining codon length of cdnaseq after deletion = 1179 ter codon is tga at posn 393 Protein length after deletion = 392 Total no. of codons in del cdnaseq = 393 last codon in array is tga gtg (V) gtg (V) gtg (V) gtg (V) ccc (P) tat (Y) gag (E) ccg (P) gtg (V) gtg (V) ccc (P) tat (Y) gag (E) ccg (P) wild type sequence in deletion region: gtg (V) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gtg (V) 218 V 218 V - endometrium TP53 1 c.652_654delGTG p.V218del length of cdnaseq = 1182 length of protseq = 393 652 654 GTG 3 218 1 218 3 gtg Total no. of codons in cdna seq = 394 gtg gtg prev g start g-g post c end g-c --- --- No joining codon length of cdnaseq after deletion = 1179 ter codon is tga at posn 393 Protein length after deletion = 392 Total no. of codons in del cdnaseq = 393 last codon in array is tga gtg (V) gtg (V) gtg (V) gtg (V) ccc (P) tat (Y) gag (E) ccg (P) gtg (V) gtg (V) ccc (P) tat (Y) gag (E) ccg (P) wild type sequence in deletion region: gtg (V) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gtg (V) 218 V 218 V - haematopoietic_and_lymphoid_tissue TP53 1 c.1_1182del1182 p.M1_*394del length of cdnaseq = 1182 length of protseq = 393 1 1182 1182 1182 1 1 394 3 atggaggagccgcagtcagatcctagcgtcgagccccctctgagtcaggaaacattttcagacctatggaaactacttcctgaaaacaacgttctgtcccccttgccgtcccaagcaatggatgatttgatgctgtccccggacgatattgaacaatggttcactgaagacccaggtccagatgaagctcccagaatgccagaggctgctccccgcgtggcccctgcaccagcagctcctacaccggcggcccctgcaccagccccctcctggcccctgtcatcttctgtcccttcccagaaaacctaccagggcagctacggtttccgtctgggcttcttgcattctgggacagccaagtctgtgacttgcacgtactcccctgccctcaacaagatgttttgccaactggccaagacctgccctgtgcagctgtgggttgattccacacccccgcccggcacccgcgtccgcgccatggccatctacaagcagtcacagcacatgacggaggttgtgaggcgctgcccccaccatgagcgctgctcagatagcgatggtctggcccctcctcagcatcttatccgagtggaaggaaatttgcgtgtggagtatttggatgacagaaacacttttcgacatagtgtggtggtgccctatgagccgcctgaggttggctctgactgtaccaccatccactacaactacatgtgtaacagttcctgcatgggcggcatgaaccggaggcccatcctcaccatcatcacactggaagactccagtggtaatctactgggacggaacagctttgaggtgcgtgtttgtgcctgtcctgggagagaccggcgcacagaggaagagaatctccgcaagaaaggggagcctcaccacgagctgcccccagggagcactaagcgagcactgcccaacaacaccagctcctctccccagccaaagaagaaaccactggatggagaatatttcacccttcagatccgtgggcgtgagcgcttcgagatgttccgagagctgaatgaggccttggaactcaaggatgcccaggctgggaaggagccaggggggagcagggctcactccagccacctgaagtccaaaaagggtcagtctacctcccgccataaaaaactcatgttcaagacagaagggcctgactcagactga Total no. of codons in cdna seq = 394 atg tga deletion begins at cdna pos 1 deletion ends at cdna end --- --- No joining codon length of cdnaseq after deletion = 0 Total no. of codons in del cdnaseq = 0 No ter codons in deleted sequence and no leftover bases at end Protein length after deletion = 0 --- ( ) --- ( ) atg (M) tga (TER) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: atg (M) gag (E) gag (E) ccg (P) cag (Q) tca (S) gat (D) cct (P) agc (S) gtc (V) gag (E) ccc (P) cct (P) ctg (L) agt (S) cag (Q) gaa (E) aca (T) ttt (F) tca (S) gac (D) cta (L) tgg (W) aaa (K) cta (L) ctt (L) cct (P) gaa (E) aac (N) aac (N) gtt (V) ctg (L) tcc (S) ccc (P) ttg (L) ccg (P) tcc (S) caa (Q) gca (A) atg (M) gat (D) gat (D) ttg (L) atg (M) ctg (L) tcc (S) ccg (P) gac (D) gat (D) att (I) gaa (E) caa (Q) tgg (W) ttc (F) act (T) gaa (E) gac (D) cca (P) ggt (G) cca (P) gat (D) gaa (E) gct (A) ccc (P) aga (R) atg (M) cca (P) gag (E) gct (A) gct (A) ccc (P) cgc (R) gtg (V) gcc (A) cct (P) gca (A) cca (P) gca (A) gct (A) cct (P) aca (T) ccg (P) gcg (A) gcc (A) cct (P) gca (A) cca (P) gcc (A) ccc (P) tcc (S) tgg (W) ccc (P) ctg (L) tca (S) tct (S) tct (S) gtc (V) cct (P) tcc (S) cag (Q) aaa (K) acc (T) tac (Y) cag (Q) ggc (G) agc (S) tac (Y) ggt (G) ttc (F) cgt (R) ctg (L) ggc (G) ttc (F) ttg (L) cat (H) tct (S) ggg (G) aca (T) gcc (A) aag (K) tct (S) gtg (V) act (T) tgc (C) acg (T) tac (Y) tcc (S) cct (P) gcc (A) ctc (L) aac (N) aag (K) atg (M) ttt (F) tgc (C) caa (Q) ctg (L) gcc (A) aag (K) acc (T) tgc (C) cct (P) gtg (V) cag (Q) ctg (L) tgg (W) gtt (V) gat (D) tcc (S) aca (T) ccc (P) ccg (P) ccc (P) ggc (G) acc (T) cgc (R) gtc (V) cgc (R) gcc (A) atg (M) gcc (A) atc (I) tac (Y) aag (K) cag (Q) tca (S) cag (Q) cac (H) atg (M) acg (T) gag (E) gtt (V) gtg (V) agg (R) cgc (R) tgc (C) ccc (P) cac (H) cat (H) gag (E) cgc (R) tgc (C) tca (S) gat (D) agc (S) gat (D) ggt (G) ctg (L) gcc (A) cct (P) cct (P) cag (Q) cat (H) ctt (L) atc (I) cga (R) gtg (V) gaa (E) gga (G) aat (N) ttg (L) cgt (R) gtg (V) gag (E) tat (Y) ttg (L) gat (D) gac (D) aga (R) aac (N) act (T) ttt (F) cga (R) cat (H) agt (S) gtg (V) gtg (V) gtg (V) ccc (P) tat (Y) gag (E) ccg (P) cct (P) gag (E) gtt (V) ggc (G) tct (S) gac (D) tgt (C) acc (T) acc (T) atc (I) cac (H) tac (Y) aac (N) tac (Y) atg (M) tgt (C) aac (N) agt (S) tcc (S) tgc (C) atg (M) ggc (G) ggc (G) atg (M) aac (N) cgg (R) agg (R) ccc (P) atc (I) ctc (L) acc (T) atc (I) atc (I) aca (T) ctg (L) gaa (E) gac (D) tcc (S) agt (S) ggt (G) aat (N) cta (L) ctg (L) gga (G) cgg (R) aac (N) agc (S) ttt (F) gag (E) gtg (V) cgt (R) gtt (V) tgt (C) gcc (A) tgt (C) cct (P) ggg (G) aga (R) gac (D) cgg (R) cgc (R) aca (T) gag (E) gaa (E) gag (E) aat (N) ctc (L) cgc (R) aag (K) aaa (K) ggg (G) gag (E) cct (P) cac (H) cac (H) gag (E) ctg (L) ccc (P) cca (P) ggg (G) agc (S) act (T) aag (K) cga (R) gca (A) ctg (L) ccc (P) aac (N) aac (N) acc (T) agc (S) tcc (S) tct (S) ccc (P) cag (Q) cca (P) aag (K) aag (K) aaa (K) cca (P) ctg (L) gat (D) gga (G) gaa (E) tat (Y) ttc (F) acc (T) ctt (L) cag (Q) atc (I) cgt (R) ggg (G) cgt (R) gag (E) cgc (R) ttc (F) gag (E) atg (M) ttc (F) cga (R) gag (E) ctg (L) aat (N) gag (E) gcc (A) ttg (L) gaa (E) ctc (L) aag (K) gat (D) gcc (A) cag (Q) gct (A) ggg (G) aag (K) gag (E) cca (P) ggg (G) ggg (G) agc (S) agg (R) gct (A) cac (H) tcc (S) agc (S) cac (H) ctg (L) aag (K) tcc (S) aaa (K) aag (K) ggt (G) cag (Q) tct (S) acc (T) tcc (S) cgc (R) cat (H) aaa (K) aaa (K) ctc (L) atg (M) ttc (F) aag (K) aca (T) gaa (E) ggg (G) cct (P) gac (D) tca (S) gac (D) tga (TER) wt inframe deln region length = 394 first wt aa affected by inframe deletion is : atg (M) 1 M 394 * haematopoietic_and_lymphoid_tissue TP53 1 c.334_366delGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTG p.G112_V122delGFLHSGTAKSV length of cdnaseq = 1182 length of protseq = 393 334 366 GGCTTCTTGCATTCTGGGACAGCCAAGTCTGTG 33 112 1 122 3 ggcttcttgcattctgggacagccaagtctgtg Total no. of codons in cdna seq = 394 ggc gtg prev g start g-g post a end g-a --- --- No joining codon length of cdnaseq after deletion = 1149 ter codon is tga at posn 383 Protein length after deletion = 382 Total no. of codons in del cdnaseq = 383 last codon in array is tga cgt (R) ctg (L) ggc (G) gtg (V) act (T) tgc (C) acg (T) tac (Y) cgt (R) ctg (L) act (T) tgc (C) acg (T) tac (Y) wild type sequence in deletion region: ggc (G) ttc (F) ttg (L) cat (H) tct (S) ggg (G) aca (T) gcc (A) aag (K) tct (S) gtg (V) wt inframe deln region length = 11 first wt aa affected by inframe deletion is : ggc (G) 112 G 122 V GFLHSGTAKSV haematopoietic_and_lymphoid_tissue TP53 1 c.697_699delCAC p.H233del length of cdnaseq = 1182 length of protseq = 393 697 699 CAC 3 233 1 233 3 cac Total no. of codons in cdna seq = 394 cac cac prev c start c-c post t end c-t --- --- No joining codon length of cdnaseq after deletion = 1179 ter codon is tga at posn 393 Protein length after deletion = 392 Total no. of codons in del cdnaseq = 393 last codon in array is tga acc (T) atc (I) cac (H) cac (H) tac (Y) aac (N) tac (Y) atg (M) acc (T) atc (I) tac (Y) aac (N) tac (Y) atg (M) wild type sequence in deletion region: cac (H) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : cac (H) 233 H 233 H - upper_aerodigestive_tract TP53 1 c.563_574del12 p.L188_P191del length of cdnaseq = 1182 length of protseq = 393 563 574 12 12 188 2 192 1 tggcccctcctc Total no. of codons in cdna seq = 394 ctg cag start c-t end c-a c-- -ag cag (Q) length of cdnaseq after deletion = 1170 ter codon is tga at posn 390 Protein length after deletion = 389 Total no. of codons in del cdnaseq = 390 last codon in array is tga gat (D) ggt (G) ctg (L) cag (Q) cat (H) ctt (L) atc (I) cga (R) gat (D) ggt (G) cag (Q) cat (H) ctt (L) atc (I) wild type sequence in deletion region: ctg (L) gcc (A) cct (P) cct (P) cag (Q) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : ctg (L) 188 L 191 P breast TP53 2 c.322_324delGGT p.G108del length of cdnaseq = 1182 length of protseq = 393 322 324 GGT 3 108 1 108 3 ggt Total no. of codons in cdna seq = 394 ggt ggt prev c start c-g post t end t-t --- --- No joining codon length of cdnaseq after deletion = 1179 ter codon is tga at posn 393 Protein length after deletion = 392 Total no. of codons in del cdnaseq = 393 last codon in array is tga agc (S) tac (Y) ggt (G) ggt (G) ttc (F) cgt (R) ctg (L) ggc (G) agc (S) tac (Y) ttc (F) cgt (R) ctg (L) ggc (G) wild type sequence in deletion region: ggt (G) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : ggt (G) 108 G 108 G - thyroid TSHR 1 c.1837_1863del27 p.Y613_K621del length of cdnaseq = 2295 length of protseq = 764 1837 1863 27 27 613 1 621 3 tacaacccaggggacaaagataccaaa Total no. of codons in cdna seq = 765 tac aaa prev g start g-t post a end a-a --- --- No joining codon length of cdnaseq after deletion = 2268 ter codon is taa at posn 756 Protein length after deletion = 755 Total no. of codons in del cdnaseq = 756 last codon in array is taa ccg (P) cag (Q) tac (Y) aaa (K) att (I) gcc (A) aag (K) agg (R) ccg (P) cag (Q) att (I) gcc (A) aag (K) agg (R) wild type sequence in deletion region: tac (Y) aac (N) cca (P) ggg (G) gac (D) aaa (K) gat (D) acc (T) aaa (K) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : tac (Y) 613 Y 621 K thyroid TSHR 1 c.1855_1857delGAT p.D619del length of cdnaseq = 2295 length of protseq = 764 1855 1857 GAT 3 619 1 619 3 gat Total no. of codons in cdna seq = 765 gat gat prev a start a-g post a end t-a --- --- No joining codon length of cdnaseq after deletion = 2292 ter codon is taa at posn 764 Protein length after deletion = 763 Total no. of codons in del cdnaseq = 764 last codon in array is taa gac (D) aaa (K) gat (D) gat (D) acc (T) aaa (K) att (I) gcc (A) gac (D) aaa (K) acc (T) aaa (K) att (I) gcc (A) wild type sequence in deletion region: gat (D) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gat (D) 619 D 619 D - kidney VHL 1 c.13_15delGCG p.A5del length of cdnaseq = 642 length of protseq = 213 13 15 GCG 3 5 1 5 3 gcg Total no. of codons in cdna seq = 214 gcg gcg prev g start g-g post g end g-g --- --- No joining codon length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga cgg (R) agg (R) gcg (A) gcg (A) gag (E) aac (N) tgg (W) gac (D) cgg (R) agg (R) gag (E) aac (N) tgg (W) gac (D) wild type sequence in deletion region: gcg (A) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : gcg (A) 5 A 5 A - kidney VHL 1 c.155_196del42 p.E52_S65del length of cdnaseq = 642 length of protseq = 213 155 196 42 42 52 2 66 1 aggagatggaggccgggcggccgcggcccgtgctgcgctcgg Total no. of codons in cdna seq = 214 gag gtg start g-a end g-t g-- -tg gtg (V) length of cdnaseq after deletion = 600 ter codon is tga at posn 200 Protein length after deletion = 199 Total no. of codons in del cdnaseq = 200 last codon in array is tga gcc (A) gag (E) gag (E) gtg (V) aac (N) tcg (S) cgc (R) gag (E) gcc (A) gag (E) gtg (V) aac (N) tcg (S) cgc (R) wild type sequence in deletion region: gag (E) gag (E) atg (M) gag (E) gcc (A) ggg (G) cgg (R) ccg (P) cgg (R) ccc (P) gtg (V) ctg (L) cgc (R) tcg (S) gtg (V) wt inframe deln region length = 15 first wt aa affected by inframe deletion is : gag (E) 52 E 65 S kidney VHL 1 c.175_183del9 p.P59_P61del length of cdnaseq = 642 length of protseq = 213 175 183 9 9 59 1 61 3 ccgcggccc Total no. of codons in cdna seq = 214 ccg ccc prev g start g-c post g end c-g --- --- No joining codon length of cdnaseq after deletion = 633 ter codon is tga at posn 211 Protein length after deletion = 210 Total no. of codons in del cdnaseq = 211 last codon in array is tga ggg (G) cgg (R) ccg (P) ccc (P) gtg (V) ctg (L) cgc (R) tcg (S) ggg (G) cgg (R) gtg (V) ctg (L) cgc (R) tcg (S) wild type sequence in deletion region: ccg (P) cgg (R) ccc (P) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : ccg (P) 59 P 61 P kidney VHL 1 c.192_200del9 p.S65_N67del length of cdnaseq = 642 length of protseq = 213 192 200 9 9 64 3 67 2 ctcggtgaa Total no. of codons in cdna seq = 214 cgc aac start g-c end a-c cg- --c cgc (R) length of cdnaseq after deletion = 633 ter codon is tga at posn 211 Protein length after deletion = 210 Total no. of codons in del cdnaseq = 211 last codon in array is tga gtg (V) ctg (L) cgc (R) aac (N) tcg (S) cgc (R) gag (E) ccc (P) gtg (V) ctg (L) cgc (R) tcg (S) cgc (R) gag (E) wild type sequence in deletion region: cgc (R) tcg (S) gtg (V) aac (N) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : tcg (S) 65 S 67 N kidney VHL 1 c.198_221del24 p.N67_V74del length of cdnaseq = 642 length of protseq = 213 198 221 24 24 66 3 74 2 gaactcgcgcgagccctcccaggt Total no. of codons in cdna seq = 214 gtg gtc start t-g end t-c gt- --c gtc (V) length of cdnaseq after deletion = 618 ter codon is tga at posn 206 Protein length after deletion = 205 Total no. of codons in del cdnaseq = 206 last codon in array is tga cgc (R) tcg (S) gtg (V) gtc (V) atc (I) ttc (F) tgc (C) aat (N) cgc (R) tcg (S) gtc (V) atc (I) ttc (F) tgc (C) wild type sequence in deletion region: gtg (V) aac (N) tcg (S) cgc (R) gag (E) ccc (P) tcc (S) cag (Q) gtc (V) wt inframe deln region length = 9 first wt aa affected by inframe deletion is : aac (N) 67 N 74 V kidney VHL 1 c.205_207delCGC p.R69del length of cdnaseq = 642 length of protseq = 213 205 207 CGC 3 69 1 69 3 cgc Total no. of codons in cdna seq = 214 cgc cgc prev g start g-c post g end c-g --- --- No joining codon length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga aac (N) tcg (S) cgc (R) cgc (R) gag (E) ccc (P) tcc (S) cag (Q) aac (N) tcg (S) gag (E) ccc (P) tcc (S) cag (Q) wild type sequence in deletion region: cgc (R) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : cgc (R) 69 R 69 R - kidney VHL 1 c.206_208delGCG p.R69_E70>Q length of cdnaseq = 642 length of protseq = 213 206 208 GCG 3 69 2 70 1 gcg Total no. of codons in cdna seq = 214 cgc gag start c-g end g-a c-- -ag cag (Q) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga aac (N) tcg (S) cgc (R) gag (E) ccc (P) tcc (S) cag (Q) gtc (V) aac (N) tcg (S) cag (Q) ccc (P) tcc (S) cag (Q) wild type sequence in deletion region: cgc (R) gag (E) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cgc (R) 69 R 70 E Q kidney VHL 1 c.209_214delAGCCCT p.E70_S72>A length of cdnaseq = 642 length of protseq = 213 209 214 AGCCCT 6 70 2 72 1 agccct Total no. of codons in cdna seq = 214 gag tcc start g-a end t-c g-- -cc gcc (A) length of cdnaseq after deletion = 636 ter codon is tga at posn 212 Protein length after deletion = 211 Total no. of codons in del cdnaseq = 212 last codon in array is tga tcg (S) cgc (R) gag (E) tcc (S) cag (Q) gtc (V) atc (I) ttc (F) tcg (S) cgc (R) gcc (A) cag (Q) gtc (V) atc (I) wild type sequence in deletion region: gag (E) ccc (P) tcc (S) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : gag (E) 70 E 72 S A kidney VHL 1 c.215_259del45 p.S72_V87>L length of cdnaseq = 642 length of protseq = 213 215 259 45 45 72 2 87 1 cccaggtcatcttctgcaatcgcagtccgcgcgtcgtgctgcccg Total no. of codons in cdna seq = 214 tcc gta start t-c end g-t t-- -ta tta (L) length of cdnaseq after deletion = 597 ter codon is tga at posn 199 Protein length after deletion = 198 Total no. of codons in del cdnaseq = 199 last codon in array is tga gag (E) ccc (P) tcc (S) gta (V) tgg (W) ctc (L) aac (N) ttc (F) gag (E) ccc (P) tta (L) tgg (W) ctc (L) aac (N) wild type sequence in deletion region: tcc (S) cag (Q) gtc (V) atc (I) ttc (F) tgc (C) aat (N) cgc (R) agt (S) ccg (P) cgc (R) gtc (V) gtg (V) ctg (L) ccc (P) gta (V) wt inframe deln region length = 16 first wt aa affected by inframe deletion is : tcc (S) 72 S 87 V L kidney VHL 1 c.229_237del9 p.C77_R79del length of cdnaseq = 642 length of protseq = 213 229 237 9 9 77 1 79 3 tgcaatcgc Total no. of codons in cdna seq = 214 tgc cgc prev c start c-t post a end c-a --- --- No joining codon length of cdnaseq after deletion = 633 ter codon is tga at posn 211 Protein length after deletion = 210 Total no. of codons in del cdnaseq = 211 last codon in array is tga atc (I) ttc (F) tgc (C) cgc (R) agt (S) ccg (P) cgc (R) gtc (V) atc (I) ttc (F) agt (S) ccg (P) cgc (R) gtc (V) wild type sequence in deletion region: tgc (C) aat (N) cgc (R) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : tgc (C) 77 C 79 R kidney VHL 1 c.230_232delGCA p.C77_N78>Y length of cdnaseq = 642 length of protseq = 213 230 232 GCA 3 77 2 78 1 gca Total no. of codons in cdna seq = 214 tgc aat start t-g end a-a t-- -at tat (Y) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga atc (I) ttc (F) tgc (C) aat (N) cgc (R) agt (S) ccg (P) cgc (R) atc (I) ttc (F) tat (Y) cgc (R) agt (S) ccg (P) wild type sequence in deletion region: tgc (C) aat (N) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : tgc (C) 77 C 78 N Y kidney VHL 1 c.236_241delGCAGTC p.R79_P81>P length of cdnaseq = 642 length of protseq = 213 236 241 GCAGTC 6 79 2 81 1 gcagtc Total no. of codons in cdna seq = 214 cgc ccg start c-g end c-c c-- -cg ccg (P) length of cdnaseq after deletion = 636 ter codon is tga at posn 212 Protein length after deletion = 211 Total no. of codons in del cdnaseq = 212 last codon in array is tga tgc (C) aat (N) cgc (R) ccg (P) cgc (R) gtc (V) gtg (V) ctg (L) tgc (C) aat (N) ccg (P) cgc (R) gtc (V) gtg (V) wild type sequence in deletion region: cgc (R) agt (S) ccg (P) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : cgc (R) 79 R 81 P P kidney VHL 1 c.239_241delGTC p.S80_P81>T length of cdnaseq = 642 length of protseq = 213 239 241 GTC 3 80 2 81 1 gtc Total no. of codons in cdna seq = 214 agt ccg start a-g end c-c a-- -cg acg (T) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga aat (N) cgc (R) agt (S) ccg (P) cgc (R) gtc (V) gtg (V) ctg (L) aat (N) cgc (R) acg (T) cgc (R) gtc (V) gtg (V) wild type sequence in deletion region: agt (S) ccg (P) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : agt (S) 80 S 81 P T kidney VHL 1 c.246_254del9 p.V83_L85del length of cdnaseq = 642 length of protseq = 213 246 254 9 9 82 3 85 2 cgtcgtgct Total no. of codons in cdna seq = 214 cgc ctg start g-c end t-g cg- --g cgg (R) length of cdnaseq after deletion = 633 ter codon is tga at posn 211 Protein length after deletion = 210 Total no. of codons in del cdnaseq = 211 last codon in array is tga agt (S) ccg (P) cgc (R) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) agt (S) ccg (P) cgg (R) ccc (P) gta (V) tgg (W) wild type sequence in deletion region: cgc (R) gtc (V) gtg (V) ctg (L) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : gtc (V) 83 V 85 L kidney VHL 1 c.251_280delTGCTGCCCGTATGGCTCAACTTCGACGGCG p.V84_E94>E length of cdnaseq = 642 length of protseq = 213 251 280 TGCTGCCCGTATGGCTCAACTTCGACGGCG 30 84 2 94 1 tgctgcccgtatggctcaacttcgacggcg Total no. of codons in cdna seq = 214 gtg gag start g-t end g-a g-- -ag gag (E) length of cdnaseq after deletion = 612 ter codon is tga at posn 204 Protein length after deletion = 203 Total no. of codons in del cdnaseq = 204 last codon in array is tga cgc (R) gtc (V) gtg (V) gag (E) ccg (P) cag (Q) ccc (P) tac (Y) cgc (R) gtc (V) gag (E) ccg (P) cag (Q) ccc (P) wild type sequence in deletion region: gtg (V) ctg (L) ccc (P) gta (V) tgg (W) ctc (L) aac (N) ttc (F) gac (D) ggc (G) gag (E) wt inframe deln region length = 11 first wt aa affected by inframe deletion is : gtg (V) 84 V 94 E E kidney VHL 1 c.260_262delTAT p.V87_W88>G length of cdnaseq = 642 length of protseq = 213 260 262 TAT 3 87 2 88 1 tat Total no. of codons in cdna seq = 214 gta tgg start g-t end t-g g-- -gg ggg (G) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga ctg (L) ccc (P) gta (V) tgg (W) ctc (L) aac (N) ttc (F) gac (D) ctg (L) ccc (P) ggg (G) ctc (L) aac (N) ttc (F) wild type sequence in deletion region: gta (V) tgg (W) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gta (V) 87 V 88 W G kidney VHL 1 c.268_270delAAC p.N90del length of cdnaseq = 642 length of protseq = 213 268 270 AAC 3 90 1 90 3 aac Total no. of codons in cdna seq = 214 aac aac prev c start c-a post t end c-t --- --- No joining codon length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga tgg (W) ctc (L) aac (N) aac (N) ttc (F) gac (D) ggc (G) gag (E) tgg (W) ctc (L) ttc (F) gac (D) ggc (G) gag (E) wild type sequence in deletion region: aac (N) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : aac (N) 90 N 90 N - kidney VHL 1 c.270_272delCTT p.F91del length of cdnaseq = 642 length of protseq = 213 270 272 CTT 3 90 3 91 2 ctt Total no. of codons in cdna seq = 214 aac ttc start a-c end t-c aa- --c aac (N) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga tgg (W) ctc (L) aac (N) ttc (F) gac (D) ggc (G) gag (E) ccg (P) tgg (W) ctc (L) aac (N) gac (D) ggc (G) gag (E) wild type sequence in deletion region: aac (N) ttc (F) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ttc (F) 91 F 91 F - kidney VHL 1 c.275_277delACG p.D92_G93>G length of cdnaseq = 642 length of protseq = 213 275 277 ACG 3 92 2 93 1 acg Total no. of codons in cdna seq = 214 gac ggc start g-a end g-g g-- -gc ggc (G) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga aac (N) ttc (F) gac (D) ggc (G) gag (E) ccg (P) cag (Q) ccc (P) aac (N) ttc (F) ggc (G) gag (E) ccg (P) cag (Q) wild type sequence in deletion region: gac (D) ggc (G) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gac (D) 92 D 93 G G kidney VHL 1 c.283_297del15 p.P95_P99del length of cdnaseq = 642 length of protseq = 213 283 297 15 15 95 1 99 3 ccgcagccctaccca Total no. of codons in cdna seq = 214 ccg cca prev g start g-c post a end a-a --- --- No joining codon length of cdnaseq after deletion = 627 ter codon is tga at posn 209 Protein length after deletion = 208 Total no. of codons in del cdnaseq = 209 last codon in array is tga ggc (G) gag (E) ccg (P) cca (P) acg (T) ctg (L) ccg (P) cct (P) ggc (G) gag (E) acg (T) ctg (L) ccg (P) cct (P) wild type sequence in deletion region: ccg (P) cag (Q) ccc (P) tac (Y) cca (P) wt inframe deln region length = 5 first wt aa affected by inframe deletion is : ccg (P) 95 P 99 P kidney VHL 1 c.285_287delGCA p.Q96del length of cdnaseq = 642 length of protseq = 213 285 287 GCA 3 95 3 96 2 gca Total no. of codons in cdna seq = 214 ccg cag start c-g end a-g cc- --g ccg (P) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga ggc (G) gag (E) ccg (P) cag (Q) ccc (P) tac (Y) cca (P) acg (T) ggc (G) gag (E) ccg (P) ccc (P) tac (Y) cca (P) wild type sequence in deletion region: ccg (P) cag (Q) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cag (Q) 96 Q 96 Q - kidney VHL 1 c.301_306delCTGCCG p.L101_P102del length of cdnaseq = 642 length of protseq = 213 301 306 CTGCCG 6 101 1 102 3 ctgccg Total no. of codons in cdna seq = 214 ctg ccg prev g start g-c post c end g-c --- --- No joining codon length of cdnaseq after deletion = 636 ter codon is tga at posn 212 Protein length after deletion = 211 Total no. of codons in del cdnaseq = 212 last codon in array is tga cca (P) acg (T) ctg (L) ccg (P) cct (P) ggc (G) acg (T) ggc (G) cca (P) acg (T) cct (P) ggc (G) acg (T) ggc (G) wild type sequence in deletion region: ctg (L) ccg (P) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ctg (L) 101 L 102 P kidney VHL 1 c.302_304delTGC p.L101del length of cdnaseq = 642 length of protseq = 213 302 304 TGC 3 101 2 102 1 tgc Total no. of codons in cdna seq = 214 ctg ccg start c-t end c-c c-- -cg ccg (P) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga cca (P) acg (T) ctg (L) ccg (P) cct (P) ggc (G) acg (T) ggc (G) cca (P) acg (T) ccg (P) cct (P) ggc (G) acg (T) wild type sequence in deletion region: ctg (L) ccg (P) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ctg (L) 101 L 101 L - kidney VHL 1 c.306_308delGCC p.P103del length of cdnaseq = 642 length of protseq = 213 306 308 GCC 3 102 3 103 2 gcc Total no. of codons in cdna seq = 214 ccg cct start c-g end c-t cc- --t cct (P) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga acg (T) ctg (L) ccg (P) cct (P) ggc (G) acg (T) ggc (G) cgc (R) acg (T) ctg (L) cct (P) ggc (G) acg (T) ggc (G) wild type sequence in deletion region: ccg (P) cct (P) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cct (P) 103 P 103 P - kidney VHL 1 c.321_323delCCG p.R108del length of cdnaseq = 642 length of protseq = 213 321 323 CCG 3 107 3 108 2 ccg Total no. of codons in cdna seq = 214 cgc cgc start g-c end g-c cg- --c cgc (R) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga acg (T) ggc (G) cgc (R) cgc (R) atc (I) cac (H) agc (S) tac (Y) acg (T) ggc (G) cgc (R) atc (I) cac (H) agc (S) wild type sequence in deletion region: cgc (R) cgc (R) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cgc (R) 108 R 108 R - kidney VHL 1 c.328_333delCACAGC p.H110_S111del length of cdnaseq = 642 length of protseq = 213 328 333 CACAGC 6 110 1 111 3 cacagc Total no. of codons in cdna seq = 214 cac agc prev c start c-c post t end c-t --- --- No joining codon length of cdnaseq after deletion = 636 ter codon is tga at posn 212 Protein length after deletion = 211 Total no. of codons in del cdnaseq = 212 last codon in array is tga cgc (R) atc (I) cac (H) agc (S) tac (Y) cga (R) ggt (G) cac (H) cgc (R) atc (I) tac (Y) cga (R) ggt (G) cac (H) wild type sequence in deletion region: cac (H) agc (S) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : cac (H) 110 H 111 S kidney VHL 1 c.361_366delGATGCA p.D121_A122del length of cdnaseq = 642 length of protseq = 213 361 366 GATGCA 6 121 1 122 3 gatgca Total no. of codons in cdna seq = 214 gat gca prev a start a-g post g end a-g --- --- No joining codon length of cdnaseq after deletion = 636 ter codon is tga at posn 212 Protein length after deletion = 211 Total no. of codons in del cdnaseq = 212 last codon in array is tga ttc (F) aga (R) gat (D) gca (A) ggg (G) aca (T) cac (H) gat (D) ttc (F) aga (R) ggg (G) aca (T) cac (H) gat (D) wild type sequence in deletion region: gat (D) gca (A) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gat (D) 121 D 122 A kidney VHL 1 c.369_371delGAC p.T124_H125>H length of cdnaseq = 642 length of protseq = 213 369 371 GAC 3 123 3 124 2 gac Total no. of codons in cdna seq = 214 ggg aca start g-g end c-a gg- --a gga (G) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga gat (D) gca (A) ggg (G) aca (T) cac (H) gat (D) ggg (G) ctt (L) gat (D) gca (A) gga (G) cac (H) gat (D) ggg (G) wild type sequence in deletion region: ggg (G) aca (T) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : aca (T) 124 T 125 H H kidney VHL 1 c.406_408delTTT p.F136del length of cdnaseq = 642 length of protseq = 213 406 408 TTT 3 136 1 136 3 ttt Total no. of codons in cdna seq = 214 ttt ttt prev a start a-t post g end t-g --- --- No joining codon length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga gaa (E) tta (L) ttt (F) ttt (F) gtg (V) cca (P) tct (S) ctc (L) gaa (E) tta (L) gtg (V) cca (P) tct (S) ctc (L) wild type sequence in deletion region: ttt (F) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : ttt (F) 136 F 136 F - kidney VHL 1 c.439_444delATTTTT p.I147_F148del length of cdnaseq = 642 length of protseq = 213 439 444 ATTTTT 6 147 1 148 3 attttt Total no. of codons in cdna seq = 214 att ttt prev t start t-a post g end t-g --- --- No joining codon length of cdnaseq after deletion = 636 ter codon is tga at posn 212 Protein length after deletion = 211 Total no. of codons in del cdnaseq = 212 last codon in array is tga cag (Q) cct (P) att (I) ttt (F) gcc (A) aat (N) atc (I) aca (T) cag (Q) cct (P) gcc (A) aat (N) atc (I) aca (T) wild type sequence in deletion region: att (I) ttt (F) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : att (I) 147 I 148 F kidney VHL 1 c.450_455delTATCAC p.I151_T152del length of cdnaseq = 642 length of protseq = 213 450 455 TATCAC 6 150 3 152 2 tatcac Total no. of codons in cdna seq = 214 aat aca start a-t end c-a aa- --a aaa (K) length of cdnaseq after deletion = 636 ter codon is tga at posn 212 Protein length after deletion = 211 Total no. of codons in del cdnaseq = 212 last codon in array is tga ttt (F) gcc (A) aat (N) aca (T) ctg (L) cca (P) gtg (V) tat (Y) ttt (F) gcc (A) aaa (K) ctg (L) cca (P) gtg (V) wild type sequence in deletion region: aat (N) atc (I) aca (T) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : aat (N) 151 I 152 T N I 1 kidney VHL c.450_455delTATCAC p.I151_T152del kidney VHL 1 c.467_475del9 p.Y156* length of cdnaseq = 642 length of protseq = 213 467 475 9 9 156 2 159 1 atactctga Total no. of codons in cdna seq = 214 tat aaa start t-a end a-a t-- -aa taa (TER) length of cdnaseq after deletion = 633 ter codon is taa at posn 156 Protein length after deletion = 155 Total no. of codons in del cdnaseq = 211 last codon in array is tga cca (P) gtg (V) tat (Y) aaa (K) gag (E) cga (R) tgc (C) ctc (L) cca (P) gtg (V) taa (TER) --- ( ) --- ( ) --- ( ) wild type sequence in deletion region: tat (Y) act (T) ctg (L) aaa (K) wt inframe deln region length = 4 first wt aa affected by inframe deletion is : tat (Y) 156 Y 156 * kidney VHL 1 c.469_477del9 p.T157_K159del length of cdnaseq = 642 length of protseq = 213 469 477 9 9 157 1 159 3 actctgaaa Total no. of codons in cdna seq = 214 act aaa prev t start t-a post g end a-g --- --- No joining codon length of cdnaseq after deletion = 633 ter codon is tga at posn 211 Protein length after deletion = 210 Total no. of codons in del cdnaseq = 211 last codon in array is tga gtg (V) tat (Y) act (T) aaa (K) gag (E) cga (R) tgc (C) ctc (L) gtg (V) tat (Y) gag (E) cga (R) tgc (C) ctc (L) wild type sequence in deletion region: act (T) ctg (L) aaa (K) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : act (T) 157 T 159 K kidney VHL 1 c.472_477delCTGAAA p.L158_K159del length of cdnaseq = 642 length of protseq = 213 472 477 CTGAAA 6 158 1 159 3 ctgaaa Total no. of codons in cdna seq = 214 ctg aaa prev t start t-c post g end a-g --- --- No joining codon length of cdnaseq after deletion = 636 ter codon is tga at posn 212 Protein length after deletion = 211 Total no. of codons in del cdnaseq = 212 last codon in array is tga tat (Y) act (T) ctg (L) aaa (K) gag (E) cga (R) tgc (C) ctc (L) tat (Y) act (T) gag (E) cga (R) tgc (C) ctc (L) wild type sequence in deletion region: ctg (L) aaa (K) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ctg (L) 158 L 159 K kidney VHL 1 c.476_478delAAG p.E160del length of cdnaseq = 642 length of protseq = 213 476 478 AAG 3 159 2 160 1 aag Total no. of codons in cdna seq = 214 aaa gag start a-a end g-a a-- -ag aag (K) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga act (T) ctg (L) aaa (K) gag (E) cga (R) tgc (C) ctc (L) cag (Q) act (T) ctg (L) aag (K) cga (R) tgc (C) ctc (L) wild type sequence in deletion region: aaa (K) gag (E) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gag (E) 160 E 160 E - kidney VHL 1 c.481_483delCGA p.R161del length of cdnaseq = 642 length of protseq = 213 481 483 CGA 3 161 1 161 3 cga Total no. of codons in cdna seq = 214 cga cga prev g start g-c post t end a-t --- --- No joining codon length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga aaa (K) gag (E) cga (R) cga (R) tgc (C) ctc (L) cag (Q) gtt (V) aaa (K) gag (E) tgc (C) ctc (L) cag (Q) gtt (V) wild type sequence in deletion region: cga (R) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : cga (R) 161 R 161 R - kidney VHL 1 c.504_509delCCTAGT p.L169_V170del length of cdnaseq = 642 length of protseq = 213 504 509 CCTAGT 6 168 3 170 2 cctagt Total no. of codons in cdna seq = 214 agc gtc start g-c end t-c ag- --c agc (S) length of cdnaseq after deletion = 636 ter codon is tga at posn 212 Protein length after deletion = 211 Total no. of codons in del cdnaseq = 212 last codon in array is tga gtc (V) cgg (R) agc (S) gtc (V) aag (K) cct (P) gag (E) aat (N) gtc (V) cgg (R) agc (S) aag (K) cct (P) gag (E) wild type sequence in deletion region: agc (S) cta (L) gtc (V) wt inframe deln region length = 3 first wt aa affected by inframe deletion is : cta (L) 169 L 170 V kidney VHL 1 c.560_580del21 p.D187_N193del length of cdnaseq = 642 length of protseq = 213 560 580 21 21 187 2 194 1 atctggaagaccacccaaatg Total no. of codons in cdna seq = 214 gat gtg start g-a end g-t g-- -tg gtg (V) length of cdnaseq after deletion = 621 ter codon is tga at posn 207 Protein length after deletion = 206 Total no. of codons in del cdnaseq = 207 last codon in array is tga tac (Y) gaa (E) gat (D) gtg (V) cag (Q) aaa (K) gac (D) ctg (L) tac (Y) gaa (E) gtg (V) cag (Q) aaa (K) gac (D) wild type sequence in deletion region: gat (D) ctg (L) gaa (E) gac (D) cac (H) cca (P) aat (N) gtg (V) wt inframe deln region length = 8 first wt aa affected by inframe deletion is : gat (D) 187 D 193 N pancreas VHL 1 c.228_230delCTG p.C77del length of cdnaseq = 642 length of protseq = 213 228 230 CTG 3 76 3 77 2 ctg Total no. of codons in cdna seq = 214 ttc tgc start t-c end g-c tt- --c ttc (F) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga gtc (V) atc (I) ttc (F) tgc (C) aat (N) cgc (R) agt (S) ccg (P) gtc (V) atc (I) ttc (F) aat (N) cgc (R) agt (S) wild type sequence in deletion region: ttc (F) tgc (C) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : tgc (C) 77 C 77 C - kidney VHL 2 c.259_264delGTATGG p.V87_W88del length of cdnaseq = 642 length of protseq = 213 259 264 GTATGG 6 87 1 88 3 gtatgg Total no. of codons in cdna seq = 214 gta tgg prev c start c-g post c end g-c --- --- No joining codon length of cdnaseq after deletion = 636 ter codon is tga at posn 212 Protein length after deletion = 211 Total no. of codons in del cdnaseq = 212 last codon in array is tga ctg (L) ccc (P) gta (V) tgg (W) ctc (L) aac (N) ttc (F) gac (D) ctg (L) ccc (P) ctc (L) aac (N) ttc (F) gac (D) wild type sequence in deletion region: gta (V) tgg (W) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gta (V) 87 V 88 W kidney VHL 2 c.561_563delTCT p.D187_L188del length of cdnaseq = 642 length of protseq = 213 561 563 TCT 3 187 3 188 2 tct Total no. of codons in cdna seq = 214 gat ctg start a-t end t-g ga- --g gag (E) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga tac (Y) gaa (E) gat (D) ctg (L) gaa (E) gac (D) cac (H) cca (P) tac (Y) gaa (E) gag (E) gaa (E) gac (D) cac (H) wild type sequence in deletion region: gat (D) ctg (L) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : gat (D) 187 D 188 L kidney VHL 5 c.227_229delTCT p.F76del length of cdnaseq = 642 length of protseq = 213 227 229 TCT 3 76 2 77 1 tct Total no. of codons in cdna seq = 214 ttc tgc start t-t end t-g t-- -gc tgc (C) length of cdnaseq after deletion = 639 ter codon is tga at posn 213 Protein length after deletion = 212 Total no. of codons in del cdnaseq = 213 last codon in array is tga gtc (V) atc (I) ttc (F) tgc (C) aat (N) cgc (R) agt (S) ccg (P) gtc (V) atc (I) tgc (C) aat (N) cgc (R) agt (S) wild type sequence in deletion region: ttc (F) tgc (C) wt inframe deln region length = 2 first wt aa affected by inframe deletion is : ttc (F) 76 F 76 F - haematopoietic_and_lymphoid_tissue WT1 1 c.1136_1228del93 p.V380_S410del length of cdnaseq = 1350 length of protseq = 449 1136 1228 93 93 379 2 410 1 gtgtgaaaccattccagtgtaaaacttgtcagcgaaagttctcccggtccgaccacctgaagacccacaccaggactcatacaggtaaaacaa Total no. of codons in cdna seq = 450 ggt agt start g-g end a-g g-- -gt ggt (G) length of cdnaseq after deletion = 1257 ter codon is tga at posn 419 Protein length after deletion = 418 Total no. of codons in del cdnaseq = 419 last codon in array is tga cat (H) aca (T) ggt (G) agt (S) gaa (E) aag (K) ccc (P) ttc (F) cat (H) aca (T) ggt (G) gaa (E) aag (K) ccc (P) wild type sequence in deletion region: ggt (G) gtg (V) aaa (K) cca (P) ttc (F) cag (Q) tgt (C) aaa (K) act (T) tgt (C) cag (Q) cga (R) aag (K) ttc (F) tcc (S) cgg (R) tcc (S) gac (D) cac (H) ctg (L) aag (K) acc (T) cac (H) acc (T) agg (R) act (T) cat (H) aca (T) ggt (G) aaa (K) aca (T) agt (S) wt inframe deln region length = 32 first wt aa affected by inframe deletion is : gtg (V) 380 V 410 S haematopoietic_and_lymphoid_tissue WT1 1 c.937_939delTCG p.S313del length of cdnaseq = 1350 length of protseq = 449 937 939 TCG 3 313 1 313 3 tcg Total no. of codons in cdna seq = 450 tcg tcg prev g start g-t post g end g-g --- --- No joining codon length of cdnaseq after deletion = 1347 ter codon is tga at posn 449 Protein length after deletion = 448 Total no. of codons in del cdnaseq = 449 last codon in array is tga gta (V) cgg (R) tcg (S) tcg (S) gca (A) tct (S) gag (E) acc (T) gta (V) cgg (R) gca (A) tct (S) gag (E) acc (T) wild type sequence in deletion region: tcg (S) wt inframe deln region length = 1 first wt aa affected by inframe deletion is : tcg (S) 313 S 313 S -