| 基因名 | 突变 |
|---|---|
| TBC1D29(NM_015594,TBC1 domain family, member 29,150aa) | g.17:28890231A>C,c.241A>C,p.T81P |
| TBC1D29(NM_015594,TBC1 domain family, member 29,150aa) | g.17:28889890T>G,c.182T>G,p.L61R |
| TBC1D29(NM_015594,TBC1 domain family, member 29,150aa) | g.17:28887134G>A,c.13-1G>A,p.5Acceptor |
| TBC1D29(NM_015594,TBC1 domain family, member 29,150aa) | g.17:28886740A>G,c.8A>G,p.H3R |
| TBC1D28(NM_001039397,TBC1 domain family, member 28,210aa) | g.17:18542519T>G,c.167A>C,p.E56A |
| TBC1D28(NM_001039397,TBC1 domain family, member 28,210aa) | g.17:18541992C>T,c.221G>A,p.R74H |
| TBC1D28(NM_001039397,TBC1 domain family, member 28,210aa) | g.17:18541699G>A,c.314C>T,p.A105V |
| TBC1D28(NM_001039397,TBC1 domain family, member 28,210aa) | g.17:18541693C>T,c.320G>A,p.R107Q |
| TBC1D28(NM_001039397,TBC1 domain family, member 28,210aa) | g.17:18541236C>A,c.438G>T,p.Q146H |
| TBC1D28(NM_001039397,TBC1 domain family, member 28,210aa) | g.17:18539795C>T,c.613G>A,p.G205R |
| TBC1D26(NM_178571,TBC1 domain family, member 26,250aa) | g.17:15645289G>A,c.700G>A,p.G234S |
| TBC1D26(NM_178571,TBC1 domain family, member 26,250aa) | g.17:15645284C>T,c.695C>T,p.S232L |
| TBC1D26(NM_178571,TBC1 domain family, member 26,250aa) | g.17:15645281G>C,c.692G>C,p.G231A |
| TBC1D26(NM_178571,TBC1 domain family, member 26,250aa) | g.17:15644553T>C,c.664T>C,p.W222R |
| TBC1D26(NM_178571,TBC1 domain family, member 26,250aa) | g.17:15644515C>T,c.626C>T,p.A209V |
| TBC1D26(NM_178571,TBC1 domain family, member 26,250aa) | g.17:15644506C>T,c.617C>T,p.A206V |
| TBC1D26(NM_178571,TBC1 domain family, member 26,250aa) | g.17:15642057G>T,c.410G>T,p.R137M |
| TBC1D26(NM_178571,TBC1 domain family, member 26,250aa) | g.17:15641640G>A,c.326G>A,p.R109Q |
| TBC1D26(NM_178571,TBC1 domain family, member 26,250aa) | g.17:15641610A>G,c.296A>G,p.Y99C |
| TBC1D26(NM_178571,TBC1 domain family, member 26,250aa) | g.17:15640815A>G,c.176A>G,p.H59R |
| TBC1D26(NM_178571,TBC1 domain family, member 26,250aa) | g.17:15640806A>C,c.167A>C,p.E56A |
| TBC1D25(NM_002536,TBC1 domain family, member 25,688aa) | g.X:48419200G>A,c.1904G>A,p.R635H |
| TBC1D25(NM_002536,TBC1 domain family, member 25,688aa) | g.X:48418659G>A,c.1363G>A,p.A455T |
| TBC1D25(NM_002536,TBC1 domain family, member 25,688aa) | g.X:48418126A>G,c.830A>G,p.N277S |
| TBC1D25(NM_002536,TBC1 domain family, member 25,688aa) | g.X:48403292A>G,c.269A>G,p.D90G |
| TBC1D25(NM_002536,TBC1 domain family, member 25,688aa) | g.X:48398231C>T,c.46C>T,p.P16S |
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2550849C>T,c.1570C>T,p.R524W |
| TBC1D24(NM_001199107,TBC1 domain family, member 24,559aa) | g.16:2550350G>A,c.1384G>A,p.E462K |