| 基因名 | 突变 |
|---|---|
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124089460C>G,c.187C>G,p.Q63E |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124085043G>T,c.34G>T,p.G12C |
| TBC1D30(NM_015279,TBC1 domain family, member 30,761aa) | g.12:65269548A>C,c.2266A>C,p.S756R |
| TBC1D30(NM_015279,TBC1 domain family, member 30,761aa) | g.12:65269339C>T,c.2057C>T,p.P686L |
| TBC1D30(NM_015279,TBC1 domain family, member 30,761aa) | g.12:65269243C>T,c.1961C>T,p.A654V |
| TBC1D30(NM_015279,TBC1 domain family, member 30,761aa) | g.12:65269047G>A,c.1765G>A,p.V589I |
| TBC1D30(NM_015279,TBC1 domain family, member 30,761aa) | g.12:65269030C>T,c.1748C>T,p.P583L |
| TBC1D30(NM_015279,TBC1 domain family, member 30,761aa) | g.12:65264387A>G,c.1297A>G,p.N433D |
| TBC1D30(NM_015279,TBC1 domain family, member 30,761aa) | g.12:65224220C>T,c.346C>T,p.R116C |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:101017823T>C,c.1A>G,p.M1V |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:101017774C>G,c.50G>C,p.G17A |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:101017735G>T,c.89C>A,p.P30Q |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:101017691G>A,c.133C>T,p.P45S |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:101014205C>T,c.373G>A,p.A125T |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:101014073C>T,c.505G>A,p.E169K |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100995779C>G,c.700G>C,p.E234Q |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100995758G>T,c.721C>A,p.P241T |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100995721A>G,c.758T>C,p.L253S |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100991430C>A,c.782G>T,p.G261V |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100991362C>T,c.850G>A,p.A284T |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100975481C>T,c.1394G>A,p.R465Q |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100973115A>C,c.1496T>G,p.L499R |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100971217C>T,c.1883G>A,p.R628H |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100971208C>T,c.1892G>A,p.R631Q |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100971128G>A,c.1972C>T,p.R658W |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100971116G>A,c.1984C>T,p.R662C |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100971073C>T,c.2027G>A,p.R676Q |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100971010C>T,c.2090G>A,p.R697Q |