| 基因名 | 突变 |
|---|---|
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19475126C>T,c.1265C>T,p.S422L |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19475099C>A,c.1238C>A,p.A413D |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19474663A>G,c.1210A>G,p.I404V |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19471647G>A,c.1139G>A,p.R380K |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19471571G>A,c.1063G>A,p.A355T |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19460888G>A,c.983G>A,p.S328N |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19455468G>T,c.854G>T,p.S285I |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19455441G>A,c.827G>A,p.R276H |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19452146G>C,c.786G>C,p.R262S |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19451962C>G,c.602C>G,p.S201C |
| TMC5(NM_001105248,transmembrane channel-like 5,1006aa) | g.16:19451418T>C,c.58T>C,p.S20P |
| TMC4(NM_001145303,transmembrane channel-like 4,712aa) | g.19:54676763C>T,c.50G>A,p.G17E |
| TMC4(NM_001145303,transmembrane channel-like 4,712aa) | g.19:54675769del,c.181del,p.61fs |
| TMC4(NM_001145303,transmembrane channel-like 4,712aa) | g.19:54675769_54675771del,c.179_181del,p.60_61del |
| TMC4(NM_001145303,transmembrane channel-like 4,712aa) | g.19:54675729T>C,c.221A>G,p.K74R |
| TMC4(NM_001145303,transmembrane channel-like 4,712aa) | g.19:54675678C>T,c.272G>A,p.R91Q |
| TMC4(NM_001145303,transmembrane channel-like 4,712aa) | g.19:54675643G>A,c.307C>T,p.H103Y |
| TMC4(NM_001145303,transmembrane channel-like 4,712aa) | g.19:54672316A>G,c.551T>C,p.M184T |
| TMC4(NM_001145303,transmembrane channel-like 4,712aa) | g.19:54667487G>A,c.1264C>T,p.R422W |
| TMC4(NM_001145303,transmembrane channel-like 4,712aa) | g.19:54667472C>T,c.1279G>A,p.V427I |
| TMC4(NM_001145303,transmembrane channel-like 4,712aa) | g.19:54664209G>C,c.2065C>G,p.Q689E |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81665021T>A,c.147A>T,p.Q49H |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81660619C>T,c.287G>A,p.R96Q |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81654624G>A,c.331C>T,p.R111C |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81651738T>G,c.469A>C,p.I157L |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81650780G>A,c.563C>T,p.S188L |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81650757C>T,c.586G>A,p.V196I |
| TMC3(NM_001080532,transmembrane channel-like 3,1100aa) | g.15:81648919G>A,c.760C>T,p.R254C |