| 基因名 | 突变 |
|---|---|
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109845669G>A,c.1058G>A,p.R353Q |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109845660T>A,c.1049T>A,p.V350D |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109841854C>G,c.770C>G,p.S257C |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109841847G>A,c.763G>A,p.A255T |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109839021C>T,c.646C>T,p.R216C |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109834198A>G,c.252A>G,p.I84M |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109826634C>A,c.111C>A,p.S37R |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109826540C>T,c.17C>T,p.T6I |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45016666C>T,c.100G>A,p.E34K |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45016621C>T,c.145G>A,p.V49M |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45016491C>T,c.275G>A,p.R92Q |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45015238C>T,c.409G>A,p.V137M |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45015192C>T,c.455G>A,p.R152H |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45011343T>A,c.775A>T,p.M259L |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45010549C>T,c.956G>A,p.R319Q |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45009341A>G,c.1466T>C,p.M489T |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45009048C>T,c.1538G>A,p.R513Q |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45007287T>C,c.1699A>G,p.T567A |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45005387G>A,c.2230C>T,p.R744W |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45005317A>G,c.2300T>C,p.L767P |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45004063T>C,c.2582A>G,p.Q861R |
| MYO1G(NM_033054,myosin IG,1018aa) | g.7:45003754C>T,c.2639G>A,p.R880H |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8620668G>A,c.16C>T,p.R6C |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8619540C>T,c.229G>A,p.A77T |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8618251C>T,c.397G>A,p.G133R |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8617020C>T,c.533G>A,p.R178Q |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8616728G>C,c.667C>G,p.Q223E |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8616659C>T,c.736G>A,p.G246S |