| 基因名 | 突变 |
|---|---|
| MYO7A(NM_000260,myosin VIIA,2215aa) | g.11:76870496G>A,c.1007G>A,p.R336H |
| MYO7A(NM_000260,myosin VIIA,2215aa) | g.11:76870495C>T,c.1006C>T,p.R336C |
| MYO7A(NM_000260,myosin VIIA,2215aa) | g.11:76869378G>A,c.905G>A,p.R302H |
| MYO7A(NM_000260,myosin VIIA,2215aa) | g.11:76867950G>A,c.635G>A,p.R212H |
| MYO7A(NM_000260,myosin VIIA,2215aa) | g.11:76867057_76867058insC,c.390_391insC,p.130fs |
| MYO7A(NM_000260,myosin VIIA,2215aa) | g.11:76866977G>A,c.310G>A,p.A104T |
| MYO7A(NM_000260,myosin VIIA,2215aa) | g.11:76858871A>G,c.160A>G,p.T54A |
| MYO7A(NM_000260,myosin VIIA,2215aa) | g.11:76853783T>C,c.47T>C,p.L16S |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76624695A>G,c.3824A>G,p.Y1275C |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76624538G>A,c.3667G>A,p.D1223N |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76623869C>T,c.3529C>T,p.R1177C |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76621416G>A,c.3439+1G>A,p.1147Donor |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76618261A>C,c.3329A>C,p.K1110T |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76599955G>A,c.2840G>A,p.R947Q |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76599951C>T,c.2836C>T,p.R946C |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76599787C>T,c.2672C>T,p.T891M |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76564957G>A,c.1180G>A,p.V394I |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76564921G>A,c.1144G>A,p.D382N |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76564897T>C,c.1120T>C,p.Y374H |
| MYO6(NM_004999,myosin VI,1285aa) | g.6:76558195C>T,c.1025C>T,p.A342V |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52575068C>T,c.49G>A,p.D17N |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52567851G>A,c.514C>T,p.R172C |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52563983G>A,c.809C>T,p.S270L |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52553173G>A,c.1199C>T,p.A400V |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52543615G>T,c.1634C>A,p.S545Y |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52539171G>A,c.1922C>T,p.A641V |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52539165G>A,c.1928C>T,p.T643M |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52536596C>T,c.2347G>A,p.A783T |