| 基因名 | 突变 |
|---|---|
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75915303T>G,c.1569A>C,p.E523D |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75911097T>C,c.1691A>G,p.K564R |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75900510G>A,c.1856C>T,p.P619L |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75900472C>T,c.1894G>A,p.D632N |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75898424C>T,c.2147G>A,p.S716N |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75887003T>C,c.2254A>G,p.T752A |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75887002G>A,c.2255C>T,p.T752I |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75886954C>T,c.2303G>A,p.R768H |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75884216C>T,c.2455G>A,p.V819I |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75866284G>A,c.3440C>T,p.T1147M |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75863116T>C,c.3617A>G,p.N1206S |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75861014C>T,c.3811G>A,p.A1271T |
| TBC1D4(NM_014832,TBC1 domain family, member 4,1298aa) | g.13:75861001A>G,c.3824T>C,p.V1275A |
| TBC1D3G(NM_001040282,TBC1 domain family, member 3G,549aa) | g.17:34797746C>T,c.1390G>A,p.V464I |
| TBC1D3G(NM_001040282,TBC1 domain family, member 3G,549aa) | g.17:34797697A>G,c.1439T>C,p.V480A |
| TBC1D3G(NM_001040282,TBC1 domain family, member 3G,549aa) | g.17:34797685G>T,c.1451C>A,p.S484Y |
| TBC1D3G(NM_001040282,TBC1 domain family, member 3G,549aa) | g.17:34797640G>A,c.1496C>T,p.A499V |
| TBC1D3B(NM_001001417,TBC1 domain family, member 3B,549aa) | g.17:34499256G>A,c.455C>T,p.T152I |
| TBC1D3B(NM_001001417,TBC1 domain family, member 3B,549aa) | g.17:34499247T>C,c.464A>G,p.K155R |
| TBC1D3B(NM_001001417,TBC1 domain family, member 3B,549aa) | g.17:34499245G>C,c.466C>G,p.H156D |
| TBC1D3B(NM_001001417,TBC1 domain family, member 3B,549aa) | g.17:34499240C>T,c.471G>A,p.M157I |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121642851C>T,c.245G>A,p.R82Q |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121638706G>T,c.430C>A,p.Q144K |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121638682G>A,c.454C>T,p.R152C |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121638666G>A,c.470C>T,p.S157F |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121625945A>G,c.725T>C,p.L242S |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121625928T>C,c.742A>G,p.M248V |
| TBC1D32(NM_152730,TBC1 domain family, member 32,1257aa) | g.6:121625669del,c.872del,p.291fs |