| 基因名 | 突变 |
|---|---|
| TBC1D10B(NM_015527,TBC1 domain family, member 10B,808aa) | g.16:30381303C>G,c.202G>C,p.E68Q |
| TBC1D10B(NM_015527,TBC1 domain family, member 10B,808aa) | g.16:30380879G>A,c.626C>T,p.A209V |
| TBC1D10B(NM_015527,TBC1 domain family, member 10B,808aa) | g.16:30380872C>G,c.633G>C,p.E211D |
| TBC1D10B(NM_015527,TBC1 domain family, member 10B,808aa) | g.16:30380556C>A,c.949G>T,p.G317C |
| TBC1D10B(NM_015527,TBC1 domain family, member 10B,808aa) | g.16:30369528G>A,c.2164C>T,p.R722W |
| TBC1D10B(NM_015527,TBC1 domain family, member 10B,808aa) | g.16:30369509C>T,c.2183G>A,p.R728Q |
| TBC1D10B(NM_015527,TBC1 domain family, member 10B,808aa) | g.16:30369467C>A,c.2225G>T,p.R742L |
| TBC1D10B(NM_015527,TBC1 domain family, member 10B,808aa) | g.16:30369434C>T,c.2258G>A,p.R753Q |
| TBC1D10A(NM_001204240,TBC1 domain family, member 10A,515aa) | g.22:30722855C>T,c.16G>A,p.G6R |
| TBC1D10A(NM_001204240,TBC1 domain family, member 10A,515aa) | g.22:30690805C>T,c.706G>A,p.G236S |
| TBC1D10A(NM_001204240,TBC1 domain family, member 10A,515aa) | g.22:30689749G>A,c.962C>T,p.A321V |
| TBC1D10A(NM_001204240,TBC1 domain family, member 10A,515aa) | g.22:30689667G>C,c.1044C>G,p.I348M |
| TBC1D10A(NM_001204240,TBC1 domain family, member 10A,515aa) | g.22:30688659C>T,c.1253G>A,p.R418H |
| TBC1D10A(NM_001204240,TBC1 domain family, member 10A,515aa) | g.22:30688611G>C,c.1301C>G,p.P434R |
| TBC1D10A(NM_001204240,TBC1 domain family, member 10A,515aa) | g.22:30688602T>C,c.1310A>G,p.Q437R |
| TBC1D10A(NM_001204240,TBC1 domain family, member 10A,515aa) | g.22:30688488T>C,c.1424A>G,p.H475R |
| TBC1D10A(NM_001204240,TBC1 domain family, member 10A,515aa) | g.22:30688479G>A,c.1433C>T,p.P478L |
| TBC1D10A(NM_001204240,TBC1 domain family, member 10A,515aa) | g.22:30688444C>A,c.1468G>T,p.D490Y |
| TBATA(NM_152710,thymus, brain and testes associated,351aa) | g.10:72541755G>A,c.79C>T,p.R27C |
| TBATA(NM_152710,thymus, brain and testes associated,351aa) | g.10:72541754C>T,c.80G>A,p.R27H |
| TBATA(NM_152710,thymus, brain and testes associated,351aa) | g.10:72541725G>T,c.109C>A,p.P37T |
| TBATA(NM_152710,thymus, brain and testes associated,351aa) | g.10:72541688A>G,c.146T>C,p.F49S |
| TBATA(NM_152710,thymus, brain and testes associated,351aa) | g.10:72541623G>A,c.211C>T,p.R71C |
| TBATA(NM_152710,thymus, brain and testes associated,351aa) | g.10:72541595C>T,c.239G>A,p.R80Q |
| TBATA(NM_152710,thymus, brain and testes associated,351aa) | g.10:72541582G>T,c.252C>A,p.H84Q |
| TBATA(NM_152710,thymus, brain and testes associated,351aa) | g.10:72539490C>T,c.286G>A,p.G96R |
| TBATA(NM_152710,thymus, brain and testes associated,351aa) | g.10:72539474A>G,c.302T>C,p.V101A |
| TBATA(NM_152710,thymus, brain and testes associated,351aa) | g.10:72537066C>T,c.533G>A,p.R178Q |