| 基因名 | 突变 |
|---|---|
| MYO9A(NM_006901,myosin IXA,2548aa) | g.15:72172883G>C,c.5415C>G,p.H1805Q |
| MYO9A(NM_006901,myosin IXA,2548aa) | g.15:72172798G>A,c.5500C>T,p.R1834C |
| MYO9A(NM_006901,myosin IXA,2548aa) | g.15:72172771C>T,c.5527G>A,p.V1843M |
| MYO9A(NM_006901,myosin IXA,2548aa) | g.15:72170478A>G,c.5834T>C,p.L1945P |
| MYO9A(NM_006901,myosin IXA,2548aa) | g.15:72170400G>A,c.5912C>T,p.S1971L |
| MYO9A(NM_006901,myosin IXA,2548aa) | g.15:72146841C>A,c.6223G>T,p.V2075F |
| MYO9A(NM_006901,myosin IXA,2548aa) | g.15:72143643A>T,c.6532T>A,p.S2178T |
| MYO9A(NM_006901,myosin IXA,2548aa) | g.15:72122642C>T,c.6848G>A,p.R2283H |
| MYO9A(NM_006901,myosin IXA,2548aa) | g.15:72120240T>C,c.7168A>G,p.I2390V |
| MYO9A(NM_006901,myosin IXA,2548aa) | g.15:72119246G>A,c.7322C>T,p.T2441M |
| MYO9A(NM_006901,myosin IXA,2548aa) | g.15:72118998G>A,c.7570C>T,p.R2524C |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128394955A>G,c.6314A>G,p.Q2105R |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128394477G>A,c.6238G>A,p.E2080K |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128394439C>T,c.6200C>T,p.A2067V |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128394385A>G,c.6146A>G,p.Y2049C |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128394135T>G,c.6061T>G,p.S2021A |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128393862G>A,c.6008G>A,p.R2003Q |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128393453C>T,c.5899C>T,p.R1967C |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128393390G>A,c.5836G>A,p.D1946N |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128393336C>T,c.5782C>T,p.R1928W |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128393315C>T,c.5761C>T,p.R1921C |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128392734G>A,c.5675G>A,p.R1892Q |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128392196T>A,c.5573T>A,p.F1858Y |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128390925A>G,c.5420A>G,p.N1807S |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128388900A>G,c.4979A>G,p.N1660S |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128388862G>C,c.4941G>C,p.E1647D |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128388437A>C,c.4813A>C,p.K1605Q |
| MYO7B(NM_001080527,myosin VIIB,2116aa) | g.2:128387373C>T,c.4700C>T,p.T1567M |