| 基因名 | 突变 |
|---|---|
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81648870C>T,c.809G>A,p.R270Q |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81648072T>C,c.929A>G,p.K310R |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81641820G>A,c.1172C>T,p.T391M |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81641815G>A,c.1177C>T,p.R393C |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81641814C>T,c.1178G>A,p.R393H |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81636302G>A,c.1603C>T,p.R535W |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81625517T>A,c.2546A>T,p.D849V |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81625434C>T,c.2629G>A,p.A877T |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81625385C>T,c.2678G>A,p.C893Y |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81625116G>A,c.2947C>T,p.R983W |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81625028C>T,c.3035G>A,p.R1012K |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81624929G>T,c.3134C>A,p.S1045X |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81624768C>T,c.3295G>A,p.D1099N |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2621914G>A,c.2638G>A,p.G880R |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2621899C>T,c.2623C>T,p.R875W |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2621861G>A,c.2585G>A,p.R862K |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2621821_2621823del,c.2545_2547del,p.849del |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2597815G>A,c.2038G>A,p.V680I |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2597765G>A,c.1988G>A,p.R663H |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2597741G>T,c.1964G>T,p.G655V |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2592954C>T,c.1711C>T,p.R571W |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2592855A>G,c.1612A>G,p.I538V |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2591122G>A,c.1471G>A,p.A491T |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2591074G>A,c.1423G>A,p.V475M |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2582853G>C,c.1319G>C,p.C440S |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2572968A>G,c.847A>G,p.M283V |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2560676A>G,c.808A>G,p.I270V |
| TMC2(NM_080751,transmembrane channel-like 2,906aa) | g.20:2560613G>C,c.745G>C,p.V249L |