| 基因名 | 突变 |
|---|---|
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100965662C>G,c.2179G>C,p.E727Q |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100965635G>C,c.2206C>G,p.L736V |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100963937G>A,c.2281C>T,p.R761W |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100963915G>A,c.2303C>T,p.S768L |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100963871C>T,c.2347G>A,p.V783M |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100962566G>A,c.2548C>T,p.R850C |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100961731G>A,c.2719C>T,p.R907W |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100961722G>A,c.2728C>T,p.R910W |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100961704C>T,c.2746G>A,p.E916K |
| TBC1D2(NM_001267571,TBC1 domain family, member 2,928aa) | g.9:100961689C>T,c.2761G>A,p.E921K |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78369972G>C,c.23C>G,p.A8G |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78346519C>T,c.371G>A,p.R124H |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78346421T>G,c.469A>C,p.T157P |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78337303C>T,c.622G>A,p.A208T |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78322493G>A,c.703C>T,p.R235C |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78317837C>G,c.850G>C,p.V284L |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78316835T>C,c.1133A>G,p.D378G |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78316766del,c.1202del,p.401fs |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78316685G>A,c.1283C>T,p.T428M |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78316559G>A,c.1409C>T,p.A470V |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78316533C>A,c.1435G>T,p.V479F |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78309020T>G,c.1643A>C,p.E548A |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78301451A>G,c.2276T>C,p.V759A |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78295765T>C,c.2456A>G,p.Q819R |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78295750T>C,c.2471A>G,p.Y824C |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78290635C>T,c.2759G>A,p.R920Q |
| TBC1D2B(NM_144572,TBC1 domain family, member 2B,963aa) | g.15:78290630C>T,c.2764G>A,p.A922T |
| TBC1D29(NM_015594,TBC1 domain family, member 29,150aa) | g.17:28890429A>G,c.439A>G,p.R147G |