Table 1.
Pts Code | Protein-Coding Variants | Single Nucleotide Variants |
---|---|---|
1 | p.Asp842Argfs*2 | c.2523dup |
2 | p.Leu629* | c.18886T>A |
3 | p.Arg216* | c.646C>T |
4 | p.Arg976Lysfs*9 | c.2926dup |
5 | p.Tyr935* | c.2805C>A |
6 | NO | NO |
7 | p.Q1294* | c.3880C>T |
8 | p.Gln1328* | c.3982C>T |
9 | p.Tyr1376Cysfs*9 | c.4127_4128del |
10 | p.Glu1538Ilefs*5 | c.4612_4613delGA |
11 | p.Glu1309Aspfs*4 | c.3927_3931delAAAGA |
12 | p.Arg213* | c.637C>T |
13 | p.Gln1062* | c.3183_3187del |
14 | NO | NO |
15 | p.Arg640Thrfs*11 | c.1917dup |
16 | p.Glu1309Aspfs*4 | c.3927_3931del |
17 | p.Glu1309Aspfs*4 | c.3927_3931delAAAGA |
18 | p.Glu1309Aspfs*4 | c.3927_3931del |
19 | p.Thr1301Asnfs*14 | c.3901dup |
20 | p.Glu1309Aspfs*4 | c.3927_3931delAAAGA |
21 | p.Gln181* | c.541C>T |
22 | p.Glu1309Aspfs*4 | c.3927_3931delAAAGA |
23 | p.Lys1061Asnfs*65 | c.3183del |
24 | p.Glu1309Aspfs*4 | c.3927_3931del |
25 | p.Glu1309Aspfs*4 | c.3927_3931del |
26 | p.Ser1110* | c.3329C>G |
27 | p.Glu1309Aspfs*4 | c.3927_3931delAAAGA |
28 | p.Ser1276* | c.3827C>G |
29 | p.Glu1309Aspfs*4 | c.3927_3931delAAAGA |
30 | p.Gly471Aspfs*27 | c.1409del |
31 | p.Arg1114* | c.3340C>T |
32 | p.Arg213* | c.637C>T |
33 | NO | NO |
34 | p.Asn936Lysfs*7 | c.2808_2815del |
35 | p.Thr1556Leufs*9 | c.4666delA |
36 | p.Glu1157Aspfs*7 | c.3471_3474del |
37 | p.Val312Cisysfs*16 | c.1312+5G>T |
38 | p.Lys455Glufs*5 | c.1362dupG |
39 | p. Glu1157Aspfs*7 | c.3471_3474del |
40 | p. Glu1157Aspfs*7 | c.3471_3474del |
41 | p. Arg1450* | c.4348C>T |
42 | p.Ile544Leufs*5 | c.1629delT |
43 | p. Glu1157Aspfs*7 | c.3471_3474del |
44 | p.Asp1266* | c.3795_3796InsT |
45 | p.Lys1061Lysfs*2 | c.3183_3187delACAAA |
46 | p.EX 11_EX 15del | Genomic reference g.(112157642_112162832)_(112179726_?)del |
47 | p.Gly972Valfs*4 | c.2915_2916delinsTAAA |