| 基因名 | 突变 |
|---|---|
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1378119C>T,c.1703G>A,p.R568Q |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1373742G>T,c.2353C>A,p.Q785K |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1373612C>T,c.2383G>A,p.V795I |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1373600C>T,c.2395G>A,p.A799T |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1373594G>A,c.2401C>T,p.R801C |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1373558G>A,c.2437C>T,p.R813C |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1373518T>C,c.2477A>G,p.Q826R |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1372861T>G,c.2574A>C,p.K858N |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1372839C>T,c.2596G>A,p.E866K |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1371393C>T,c.2785G>A,p.D929N |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1370550C>T,c.3151G>A,p.G1051R |
| MYO1B(NM_001130158,myosin IB,1136aa) | g.2:192267400A>G,c.2512A>G,p.K838E |
| MYO1B(NM_001130158,myosin IB,1136aa) | g.2:192265184A>G,c.2372A>G,p.H791R |
| MYO1B(NM_001130158,myosin IB,1136aa) | g.2:192228934C>T,c.964C>T,p.R322X |
| MYO1B(NM_001130158,myosin IB,1136aa) | g.2:192141733C>T,c.112C>T,p.R38C |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57442037A>T,c.71T>A,p.L24Q |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57441501C>A,c.235G>T,p.A79S |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57441459G>A,c.277C>T,p.R93X |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57441159C>T,c.358G>A,p.A120T |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57441141C>T,c.376G>A,p.E126K |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57437973C>A,c.661G>T,p.D221Y |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57437703C>T,c.829G>A,p.V277M |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57437119C>T,c.916G>A,p.V306M |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57433051G>A,c.1277C>T,p.P426L |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57432759T>C,c.1367A>G,p.E456G |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57432326G>A,c.1630C>T,p.R544W |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57432274G>A,c.1682C>T,p.P561L |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57431732G>C,c.1882C>G,p.R628G |