| 基因名 | 突变 |
|---|---|
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76136990G>A,c.1978G>A,p.G660S |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76134467C>T,c.1571C>T,p.P524L |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76134463C>T,c.1567C>T,p.R523W |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76134249C>T,c.1513C>T,p.L505F |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76134237G>A,c.1501G>A,p.V501I |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76134175C>T,c.1439C>T,p.A480V |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76134100G>A,c.1364G>A,p.R455Q |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76133356G>A,c.1168G>A,p.V390I |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76130996G>A,c.1033G>A,p.A345T |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76130987G>T,c.1024G>T,p.G342W |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76130575A>T,c.917A>T,p.N306I |
| TMC8(NM_152468,transmembrane channel-like 8,726aa) | g.17:76127746T>C,c.77T>C,p.M26T |
| TMC7(NM_001160364,transmembrane channel-like 7,613aa) | g.16:19073120C>A,c.1797C>A,p.Y599X |
| TMC7(NM_001160364,transmembrane channel-like 7,613aa) | g.16:19067896C>T,c.1574C>T,p.T525I |
| TMC7(NM_001160364,transmembrane channel-like 7,613aa) | g.16:19063045C>T,c.1448C>T,p.P483L |
| TMC7(NM_001160364,transmembrane channel-like 7,613aa) | g.16:19049253A>T,c.733A>T,p.T245S |
| TMC7(NM_001160364,transmembrane channel-like 7,613aa) | g.16:19049242C>T,c.722C>T,p.T241I |
| TMC7(NM_001160364,transmembrane channel-like 7,613aa) | g.16:19041595G>A,c.431G>A,p.G144E |
| TMC7(NM_001160364,transmembrane channel-like 7,613aa) | g.16:19032994A>T,c.174A>T,p.R58S |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76121956C>G,c.281G>C,p.R94P |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76121927G>A,c.310C>T,p.R104C |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76121864A>G,c.373T>C,p.W125R |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76121318G>A,c.457C>T,p.L153F |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76121249G>A,c.526C>T,p.R176C |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76121031C>T,c.572G>A,p.G191D |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76121004G>A,c.599C>T,p.S200F |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76120993G>A,c.610C>T,p.R204W |
| TMC6(NM_001127198,transmembrane channel-like 6,805aa) | g.17:76120792T>C,c.704A>G,p.K235R |