No. | cDNA change | Amino acid change | Exon | Effect | Frequency | Percentage |
---|---|---|---|---|---|---|
1 | c.1A > G | p.Met1Val | 1 | missense variant | 1 | 0.40% |
2 | c.80A > G | p.Gln27Arg | 1 | missense variant | 15 | 5.95% |
3 | c.81 + 1G > A | splicing region | intron1 | splicing variant | 1 | 0.40% |
4 | c.217C > T | p.Arg73Ter | 2 | nonsense variant | 10 | 3.97% |
5 | c.271dupA | p.Arg91Lysfs*14 | 2 | frameshift variant | 2 | 0.79% |
6 | c.315C > G | p.Tyr105Ter | 3 | nonsense variant | 1 | 0.40% |
7 | c.328_331delAACC | p.Asn110Aspfs*13 | 3 | frameshift variant | 1 | 0.40% |
8 | c.331C > T | p.Arg111Ter | 3 | nonsense variant | 2 | 0.79% |
9 | c.365A > T | p.His121Leu | 3 | missense variant | 1 | 0.40% |
10 | c.394C > T | p.Arg132Ter | 3 | nonsense variant | 6 | 2.38% |
11 | c.440_441delGT | p.Cys149Hisfs*32 | 4 | frameshift variant | 1 | 0.40% |
12 | c.445_446delTG | p.Cys149Hisfs*32 | 4 | frameshift variant | 5 | 1.98% |
13 | c.445_446insA | p.Cys149Ter | 4 | frameshift variant | 2 | 0.79% |
14 | c.445_446delT | p.Cys149Alafs*15 | 4 | frameshift variant | 1 | 0.40% |
15 | c.463_465delGGG | p.Gly155del | 4 | deletion variant | 1 | 0.40% |
16 | c.463G > C | p.G155R | 4 | missense variant | 1 | 0.40% |
17 | c.465_467delGGG | p.Gly155del | 4 | deletion variant | 1 | 0.40% |
18 | c.467G > A | p.Gly156Ala | 4 | missense variant | 2 | 0.79% |
19 | c.481C > T | p.Arg161Ter | 4 | nonsense variant | 5 | 1.98% |
20 | c.482G > A | p.Arg161Gln | 4 | missense variant | 11 | 4.37% |
21 | c.565C > T | p.Arg189Cys | 4 | missense variant | 1 | 0.40% |
22 | c.567dupT | p.Ile190Tyrfs*13 | 4 | frameshift variant | 17 | 6.75% |
23 | c.599G > A | p.Trp200Ter | 4 | nonsense variant | 1 | 0.40% |
24 | c.609G > A | p.Trp203Ter | 4 | nonsense variant | 122 | 48.41% |
25 | c.615C > A | p.Tyr205Ter | 4 | nonsense variant | 1 | 0.40% |
26 | c.617G > A | p.Arg206Gln | 4 | missense variant | 1 | 0.40% |
27 | c.626dupT | p.Thr210Aspfs*35 | 4 | frameshift variant | 1 | 0.40% |
28 | c.637G>T | p.Glu213Ter | 4 | nonsense variant | 2 | 0.79% |
29 | c.658_660delAAG | p.Lys220del | 4 | deletion variant | 34 | 13.49% |
30 | c.666C > A | p.Tyr222Ter | 4 | nonsense variant | 1 | 0.40% |
31 | c.683C > T | p.Ala228Val | 4 | missense variant | 1 | 0.40% |