| 基因名 | 突变 |
|---|---|
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121625568C>T,c.878G>A,p.R293H |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121620608G>T,c.1124C>A,p.T375K |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121604966G>A,c.1463C>T,p.S488L |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121602785T>A,c.1513A>T,p.S505C |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121577370T>C,c.1795A>G,p.I599V |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121562641C>T,c.2215G>A,p.A739T |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121560248G>T,c.2332C>A,p.P778T |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121544434T>A,c.2429A>T,p.D810V |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121482123G>C,c.2650C>G,p.R884G |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121452859G>T,c.2813C>A,p.S938Y |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121434289C>A,c.3088G>T,p.A1030S |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121433793C>G,c.3182G>C,p.G1061A |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121412114G>A,c.3539C>T,p.T1180I |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121402024G>A,c.3667C>T,p.H1223Y |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121401996T>G,c.3695A>C,p.E1232A |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124164171G>A,c.3193G>A,p.A1065T |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124164117C>T,c.3139C>T,p.R1047C |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124154698_124154699insA,c.2835+2insA,p.945Donorins |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124154697G>T,c.2835+1G>T,p.945Donor |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124141388C>T,c.2200C>T,p.R734C |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124141340C>A,c.2152C>A,p.Q718K |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124140711G>A,c.2075G>A,p.R692Q |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124140669A>G,c.2033A>G,p.N678S |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124140594C>T,c.1958C>T,p.T653M |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124121749A>G,c.1325A>G,p.E442G |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124113120T>C,c.905T>C,p.I302T |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124096540A>G,c.479A>G,p.K160R |
| TBC1D31(NM_145647,TBC1 domain family, member 31,1066aa) | g.8:124089483C>G,c.210C>G,p.D70E |