| 基因名 | 突变 |
|---|---|
| TBC1D8B(NM_017752,TBC1 domain family, member 8B (with GRAM domain),1120aa) | g.X:106109101G>A,c.2500G>A,p.E834K |
| TBC1D8B(NM_017752,TBC1 domain family, member 8B (with GRAM domain),1120aa) | g.X:106096795A>G,c.2168A>G,p.N723S |
| TBC1D8B(NM_017752,TBC1 domain family, member 8B (with GRAM domain),1120aa) | g.X:106082621_106082622del,c.1287_1288del,p.429fs |
| TBC1D8B(NM_017752,TBC1 domain family, member 8B (with GRAM domain),1120aa) | g.X:106082584T>G,c.1250T>G,p.V417G |
| TBC1D7(NM_016495,TBC1 domain family, member 7,293aa) | g.6:13325388G>A,c.131C>T,p.T44I |
| TBC1D7(NM_016495,TBC1 domain family, member 7,293aa) | g.6:13321321A>C,c.200T>G,p.L67W |
| TBC1D7(NM_016495,TBC1 domain family, member 7,293aa) | g.6:13321279C>A,c.242G>T,p.R81L |
| TBC1D7(NM_016495,TBC1 domain family, member 7,293aa) | g.6:13316916C>T,c.406G>A,p.A136T |
| TBC1D7(NM_016495,TBC1 domain family, member 7,293aa) | g.6:13316909G>T,c.413C>A,p.A138D |
| TBC1D7(NM_016495,TBC1 domain family, member 7,293aa) | g.6:13316886C>G,c.436G>C,p.E146Q |
| TBC1D7(NM_016495,TBC1 domain family, member 7,293aa) | g.6:13316874C>T,c.448G>A,p.D150N |
| TBC1D7(NM_016495,TBC1 domain family, member 7,293aa) | g.6:13316861A>C,c.461T>G,p.I154S |
| TBC1D7(NM_016495,TBC1 domain family, member 7,293aa) | g.6:13307970G>A,c.527C>T,p.A176V |
| TBC1D7(NM_016495,TBC1 domain family, member 7,293aa) | g.6:13307904G>A,c.593C>T,p.A198V |
| TBC1D7(NM_016495,TBC1 domain family, member 7,293aa) | g.6:13305382G>C,c.833C>G,p.A278G |
| TBC1D5(NM_014744,TBC1 domain family, member 5,795aa) | g.3:17446447G>A,c.283C>T,p.L95F |
| TBC1D5(NM_014744,TBC1 domain family, member 5,795aa) | g.3:17349498T>C,c.1124A>G,p.Y375C |
| TBC1D5(NM_014744,TBC1 domain family, member 5,795aa) | g.3:17255827C>T,c.1624G>A,p.V542I |
| TBC1D5(NM_014744,TBC1 domain family, member 5,795aa) | g.3:17226692T>A,c.1761A>T,p.E587D |
| TBC1D5(NM_014744,TBC1 domain family, member 5,795aa) | g.3:17226601C>G,c.1852G>C,p.V618L |
| TBC1D5(NM_014744,TBC1 domain family, member 5,795aa) | g.3:17208267T>C,c.2086A>G,p.I696V |
| TBC1D5(NM_014744,TBC1 domain family, member 5,795aa) | g.3:17202649A>T,c.2194T>A,p.S732T |
| TBC1D5(NM_014744,TBC1 domain family, member 5,795aa) | g.3:17202646C>T,c.2197G>A,p.G733S |
| TBC1D5(NM_014744,TBC1 domain family, member 5,795aa) | g.3:17202637G>T,c.2206C>A,p.Q736K |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:76055602G>A,c.302C>T,p.A101V |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75936674T>C,c.568A>G,p.K190E |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75936529T>G,c.713A>C,p.K238T |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75936208T>G,c.1034A>C,p.H345P |