Table 2. Mutations found in the analyzed cohort of 738 Polish CF patients, sorted according to the position in the gene.
| Exon / intron (legacy) | Exon / intron (Ensembl) | Protein change | SVM value | cDNA (HGVS nomenclature) | gDNA (cDNA +132 bp) | Number of PL CF chromosomes | Reference a | Mutations in trans |
| Pathogenic mutations | ||||||||
| 1 | 1 | L15Ffs10X | c.43delC | 175delC | 1 | CFMDB | 1717-1G>A | |
| 2 | 2 | G27V | −1.92 | c.80G>T | 212G>T | 1 | Novel | F508del |
| 2 | 2 | S18RfsX16 | c.54-5940_273 +10250del21kb | exon2,3del21kb | 66 | IL19 | various CF mutations | |
| i2 | i2 | IVS2_Donor | c.164+1G>A | 296+1G>A | 3 | CFMDB | various CF mutations | |
| 3 | 3 | G85E | −2.61 | c.254G>A | 386G>A | 1 | IL17 | unknown |
| 3 | 3 | E60X | c.178G>T | 310G>T | 0 | IL17 | x | |
| 3 | 3 | L88IfsX22 | c.262_263delTT | 394delTT | 0 | IL17 | x | |
| 4 | 4 | E92K | −1.92 | c.274G>A | 406G>A | 2 | CFMDB | c.164+1G>A; c.2051-2AA>G |
| 4 | 4 | L101X | c.302T>G | 434T>G | 1 | CFMDB | c.3717+12191C>T | |
| 4 | 4 | K114IfsX5 | c.341_353del13bp | 473del13bp | 1 | Novel | F508del | |
| 4 | 4 | R117H | −0.35 | c.350G>A | 482G>A | 5 | IL17 | F508del; 2x unknown |
| 4 | 4 | R117C | −2.07 | c.349C>T | 481C>T | 2 | CFMDB | S1206X;1x unknown |
| 4 | 4 | L137_L138insT | c.412_413insACT | L138ins | 1 | CFMDB | F508del | |
| 4 | 4 | R153I | −2.61 | c.458G>T | 590G>T | 2 | Novel | F508del; c.3527delC |
| i4 | i4 | IVS4_Donor | c.489+1G>T | 621+1G>T | 5 | IL17 | F508del; c.489+1G>T | |
| 5 | 5 | L165X | c.494T>A | 626T>A | 1 | Novel | F508del | |
| i5 | i5 | IVS5_Donor | c.579+1G>T | 711+1G>T | 0 | IL19 | x | |
| i5 | i5 | IVS5_Donor | c.579+3A>G | 711+3A>G | 2 | CFMDB | 2,3del21kb; c.2052-3insA | |
| i5 | i5 | IVS5_Donor | c.579+5G>A | 711+5G>A | 0 | IL17 | x | |
| 7 | 8 | F311L | −0.90 | c.933C>G | 965C>G | 2 | CFMDB | 2x F508 |
| 7 | 8 | G314R | −0.58 | c.940G>A | 1072G>A | 4 | CFMDB | various CF mutations |
| 7 | 8 | F316LfsX12 | c.948delT | 1078delT | 1 | IL17 | unkown | |
| 7 | 8 | R334W | −2.41 | c.1000C>T | 1132C>T | 6 | IL17 | various CF mutations |
| 7 | 8 | I336K | −2.07 | c.1007T>A | 1139T>A | 2 | CFMDB | 2,3de21kb; F508del |
| 7 | 8 | R347P | −2.27 | c.1040G>C | 1172G>C | 11 | IL17 | various CF mutations |
| i7 | i8 | IVS8_Donor | c.1116+2T>A | 1248+2T>A | 1 | Novel | Q1412X | |
| 9 | 10 | A455E | −2.61 | c.1364C>A | 1496C>A | 0 | IL17 | x |
| i9 | i10 | IVS10_Donor | c.1392+1G>A | 1524+1G>A | 1 | CFMDB | c.3816-7delGT | |
| 10 | 11 | S466X | c.1397C>G | 1529C>G | 1 | CFMDB | G542X | |
| 10 | 11 | I507del | c.1519_1521delATC | 1651delATC | 2 | IL19 | F508del | |
| 10 | 11 | F508del | c.1521_1523delCTT | 1654delCTT | 805 | IL19 | various CF mutations | |
| i10 | i11 | IVS11_Acceptor | c.1585-1G>A | 1717-1G>A | 27 | IL19 | various CF mutations | |
| 11 | 12 | G542X | c.1624G>T | 1756G>T | 25 | IL19 | various CF mutations | |
| 11 | 12 | G551D | −1.24 | c.1624G>T | 1756G>T | 5 | IL19 | various CF mutations |
| 11 | 12 | Q552X | c.1654C>T | 1786C>T | 0 | IL19 | x | |
| 11 | 12 | R553X | c.1657C>T | 1789C>T | 14 | IL19 | various CF mutations | |
| 11 | 12 | R560T | −1.92 | c.1679G>C | 1811G>C | 0 | IL19 | x |
| i12 | i13 | IVS13_Donor | c.1766+1G>A | 1898+1G>A | 6 | IL19 | various CF mutations | |
| i12 | i13 | IVS13_Donor | c.1766+1G>C | 1898+1G>C | 1 | CFMDB | F508del | |
| 13 | 14 | H620P | −1.73 | c.1859A>C | 1991A>C | 1 | CFMDB | F508del |
| 13 | 14 | R668C//G576A | −1.61//1.73 | c.2002C>T//c.1727G>C | 2134C>T//1859G>C | 5 b | CFMDB//rs1800098 | c.1585-1G>A; 4 unknown |
| 13 | 14 | L671X | c.2012delT | 2143delT | 27 | IL17 | various CF mutations | |
| 13 | 14 | K684SfsX38 | c.2051_2052delAAinsG | 2183AA>G | 10 | IL17 | various CF mutations | |
| 13 | 14 | K684NfsX38 | c.2052delA | 2184delA | 0 | IL17 | x | |
| 13 | 14 | Q685TfsX4 | c.2052_2053insA | 2184insA | 15 | CFMDB | various CF mutationsc, 1 unknown | |
| 13 | 14 | L732X | c.2195T>G | 2327T>G | 1 | CFMDB | F508del | |
| 14A | 15 | R851X | c.2551C>T | 2683C>T | 3 | CFMDB | various CF mutations | |
| 14A | 15 | I864SfsX28 | c.2589_2599del11bp | 2721del11bp | 2 | CFMDB | F508del; 2,3del21kb | |
| i14B | i16 | IVS16_Donor | c.2657+2_2657+3insA | 2789+2insA | 1 | CFMDB | F508del | |
| i14B | i16 | IVS16_Donor | c.2657+5G>A | 2789+5G>A | 0 | IL17 | unkown | |
| 15 | 17 | Y919C | −1.02 | c.2756A>G | 2888A>G | 1 | CFMDB | unknown |
| 15 | 17 | H939HfsX27 | c.2817_2820delTACTC | 2949delTACTC | 1 | Novel | unkown | |
| i15 | i17 | IVS17_Donor | c.2908+3A>C | 3040+3A>C | 1 | Novel | F508del | |
| i16 | i18 | IVS18_Donor | c.2988+1G>A | 3120+1G>A | 0 | IL19 | x | |
| 17A | 19 | I1023_V1024del | c.3067_3072delATAGTG | 3199del6 | 0 | IL19 | x | |
| i17A | i19 | IVS19 | c.3140-26A>G | 3272-26A>G | 9 | IL19 | various CF mutations | |
| 17B | 20 | L1065R | −1.90 | c.3194T>G | 3326T>G | 1 | CFMDB | F508del |
| 17B | 20 | Y1092X | c.3276C>A | 3408C>A | 1 | CFMDB | R334W | |
| i18 | i21 | IVS21_Donor | c.3468+2_3468+3insT | 3600+2insT | 11 | CFMDB | various CF mutationsd, 1 unknown | |
| 18 | 21 | E1126EfsX7 | c.3376_3379delGAAG | 3508delGAAG | 1 | Novel | F508del | |
| 19 | 22 | R1158X | c.3472C>T | 3604C>T | 2 | CFMDB | F508del; R553X | |
| 19 | 22 | R1162X | c.3484C>T | 3616C>T | 1 | IL17 | F508del | |
| 19 | 22 | L1177SfsX15 | c.3528delC | 3659delC | 4 | IL17 | various CF mutations | |
| 19 | 22 | S1206X | c.3617C>A | 3749C>A | 1 | CFMDB | R117C | |
| i19 | i22 | IVS22 | c.3717+12191C>T | 3849+10kbC>T | 58 | IL17 | various CF mutations | |
| 20 | 23 | G1244R | −2.62 | c.3730G>C | 3862G>C | 1 | CFMDB | F508del |
| 20 | 23 | S1251N | −2.28 | c.3752G>A | 3884G>A | 0 | IL19 | x |
| 20 | 23 | L1258FfsX7 | c.3773_3774insT | 3905insT | 0 | IL19 | x | |
| 20 | 23 | V1272VfsX28 | c.3816_3817delGT | 3944delGT | 1 | CFMDB | c.1392+1G>A | |
| 20 | 23 | W1282X | c.3846G>A | 3978G>A | 9 | IL19 | various CF mutations | |
| 21 | 24 | N1303K | −2.62 | c.3909C>G | 4041C>G | 18 | IL19 | various CF mutations |
| 22 | 25 | V1327X | c.3979delG | 4111delG | 1 | Novel | F508del | |
| 22 | 25 | S1347PfsX13 | c.4035_4038dupCCTA | c.4167dupCCTA | 1 | CFMDB | 2,3del21kb | |
| 23 | 26 | Q1382X | c.4144C>T | 4276C>T | 1 | CFMDB | F508del | |
| 23 | 26 | Q1412X | c.4234C>T | 4366C>T | 2 | CFMDB | F508del; c.1116+2T>A | |
| i23 | i26 | IVS26_Donor | c.4242+1G>T | 4374+1G>T | 1 | CFMDB | F508del | |
| Sequence changes of uncertain pathogenic effect, tentatively counted as mutations | ||||||||
| 6A | 6 | E217G | 0.30 | c.650A>G | 782A>G | 1 | CFMDB; rs1219109046 | unknown |
| 7 | 8 | R352Q | −0.01 | c.1055G>A | 1187G>A | 1 | CFMDB; rs121908753 | F508del |
| 7 | 8 | Q359R | 0.33 | c.1076A>G | 1208A>G | 1 | CFMDB | F508del |
| i8 | i9 | IVS9 | c.1210-12T5_1210-34_35 (TG)12 | 1332-12Tn_-34TGm | 6 | CFMDB | F508del; 3x unknown | |
| i8 | i9 | IVS9 | c.1210-12T5_1210-34_35 (TG)13 | 1332-12Tn_-34TGm | 2 | CFMDB | 2143delT; 1x unknown | |
| i8 | i9 | IVS9 | c.1210-12T8 | 1332-12Tn | 1 | Novel | unknown | |
| 10 | 11 | I506V | −0.21 | c.1516A>G | 1648A>G | 1 | CFMDB; rs1800091 | unknown |
| 12 | 13 | V562L | 0.79 | c.1684G>C | 1816G>C | 1 | CFMDB; rs1800097 | unknown |
| 13 | 14 | G723V | 0.44 | c.2168G>T | 2300G>T | 1 | CFMDB; rs200531709 | unknown |
| 15 | 17 | D924N | 0.03 | c.2770G>A | 2902G>A | 1 | CFMDB; rs201759207 | unknown |
| 15 | 17 | L967S | 0.27 | c.2900T>C | 3032T>C | 1 | CFMDB; rs1800110 | unknown |
| 18 | 21 | D1152H | 0.50 | c.3454G>C | 3586G>C | 1 | CFMDB; rs75541969 | F508del |
| Sequence changes considered as lacking pathogenic effect | ||||||||
| 4 | 4 | I148T | 2.04 | c.443T>U | 575T>U | 4 | IL19e | unknown |
| 13 | 14 | I752V | 0.35 | c.2254A>G | 2386A>G | 1 | Novelf | F508 |
| 15 | 17 | S912L | 2.12 | c.2735C>T | 2867C>T | 1 | CFMDBg ; rs121909034 | F508 |
Legend: a IL19 i 17 – mutations included in the INNOLiPA tests (see below); CFMDB – non-INNOLiPA mutations present in the CTFR mutation database; novel – mutations first reported in this study; b in three chromosomes R668C with G576A in trans; c F508del, c.1585-1G>A, G542X, N1303K or c.579+3A>G; d F508del, G542X, R553X or N1303K; e not pathogenic if not in cis with c.3067-72del6 (l.n.3199del6); f not pathogenic – see explanation the text; g not pathogenic if not in cis with G1244V.
a
Mutations detected by two INNOLiPA_CFTR tests (legacy names): IL19 (INNOLiPA_CFTR19): F508del; G542X; N1303K; W1282X; G551D; 1717-1G>A; R553X; CFTRdele2,3(21kb); I507del; 711+1G>T; 3272-26A>G; 3905insT; R560T; 1898+1G>A; S1251N; I148T; 3199del6; 3120+1G>A; Q552X.
IL17 (INNOLiPA_CFTR17_TnUpdate): 621+1G>T; 3849+10kbC>T; 2183AA>G; 394delTT; 2789+5G>A; R1162X; 3659delC; R117H; R334W; R347P; G85E; 1078delT; A455E; 2143delT; E60X; 2184delA; 711+5G>A; polymorphism 5T/7T/9T.