| 基因名 | 突变 |
|---|---|
| FAM71B(NM_130899,family with sequence similarity 71, member B,605aa) | g.5:156589901C>T,c.1375G>A,p.D459N |
| FAM71B(NM_130899,family with sequence similarity 71, member B,605aa) | g.5:156589696A>G,c.1580T>C,p.L527S |
| FAM71B(NM_130899,family with sequence similarity 71, member B,605aa) | g.5:156589660C>T,c.1616G>A,p.R539K |
| FAM71B(NM_130899,family with sequence similarity 71, member B,605aa) | g.5:156589585A>G,c.1691T>C,p.M564T |
| FAM71B(NM_130899,family with sequence similarity 71, member B,605aa) | g.5:156589481C>T,c.1795G>A,p.V599I |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212799949C>T,c.1730C>T,p.T577M |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212799882A>T,c.1663A>T,p.K555X |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212799870A>G,c.1651A>G,p.N551D |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212799654G>A,c.1435G>A,p.G479S |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212799535G>A,c.1316G>A,p.R439H |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212799484A>T,c.1265A>T,p.E422V |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212799163C>A,c.944C>A,p.A315E |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212799139A>G,c.920A>G,p.Q307R |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212799039G>A,c.820G>A,p.G274R |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212798977A>G,c.758A>G,p.N253S |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212798841G>A,c.622G>A,p.V208M |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212798697_212798698insG,c.478_479insG,p.160fs |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212798350C>T,c.131C>T,p.P44L |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212798336A>G,c.117A>G,p.I39M |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212798260G>A,c.41G>A,p.S14N |
| FAM71A(NM_153606,family with sequence similarity 71, member A,594aa) | g.1:212798251C>T,c.32C>T,p.T11M |
| FAM69C(NM_001044369,family with sequence similarity 69, member C,419aa) | g.18:72114490G>A,c.227C>T,p.A76V |
| FAM69C(NM_001044369,family with sequence similarity 69, member C,419aa) | g.18:72114455C>T,c.262G>A,p.E88K |
| FAM69C(NM_001044369,family with sequence similarity 69, member C,419aa) | g.18:72114185G>T,c.532C>A,p.P178T |
| FAM69C(NM_001044369,family with sequence similarity 69, member C,419aa) | g.18:72114181C>T,c.536G>A,p.R179H |
| FAM69C(NM_001044369,family with sequence similarity 69, member C,419aa) | g.18:72114055G>A,c.662C>T,p.A221V |
| FAM69C(NM_001044369,family with sequence similarity 69, member C,419aa) | g.18:72114038C>T,c.679G>A,p.A227T |
| FAM69C(NM_001044369,family with sequence similarity 69, member C,419aa) | g.18:72113998C>T,c.719G>A,p.R240Q |