| 基因名 | 突变 |
|---|---|
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2559795T>C,c.649T>C,p.W217R |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2552886C>G,c.616C>G,p.L206V |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2552884A>G,c.614A>G,p.Q205R |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2542550G>A,c.448G>A,p.E150K |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2539387G>A,c.368G>A,p.R123K |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2539287G>A,c.268G>A,p.E90K |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2517936G>A,c.56G>A,p.R19Q |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75450881C>T,c.2275C>T,p.R759C |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75445593G>A,c.2255G>A,p.R752Q |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75445583G>T,c.2245G>T,p.A749S |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75445438T>C,c.2201T>C,p.M734T |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75441825G>C,c.2044G>C,p.E682Q |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75431068A>G,c.1705A>G,p.T569A |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75420353T>C,c.1622T>C,p.I541T |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75407159T>C,c.1457T>C,p.M486T |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75369762G>T,c.703G>T,p.A235S |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75369733C>T,c.674C>T,p.P225L |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75357379G>A,c.473G>A,p.R158H |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75357367C>T,c.461C>T,p.A154V |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75355093C>T,c.421C>T,p.R141W |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75355054A>G,c.382A>G,p.S128G |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75355045A>C,c.373A>C,p.K125Q |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75315438G>A,c.241G>A,p.E81K |
| TMC1(NM_138691,transmembrane channel-like 1,760aa) | g.9:75315434_75315436del,c.237_239del,p.79_80del |
| TMBIM6(NM_001098576,transmembrane BAX inhibitor motif containing 6,295aa) | g.12:50152192C>T,c.536C>T,p.T179M |
| TMBIM6(NM_001098576,transmembrane BAX inhibitor motif containing 6,295aa) | g.12:50149484C>G,c.406C>G,p.H136D |
| TMBIM6(NM_001098576,transmembrane BAX inhibitor motif containing 6,295aa) | g.12:50146761C>T,c.236C>T,p.P79L |
| TMBIM6(NM_001098576,transmembrane BAX inhibitor motif containing 6,295aa) | g.12:50146311C>G,c.209C>G,p.A70G |