| 基因名 | 突变 |
|---|---|
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108098555A>G,c.125A>G,p.H42R |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81078408A>C,c.2305A>C,p.S769R |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81078380G>T,c.2277G>T,p.Q759H |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81078265G>T,c.2162G>T,p.G721V |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81078243A>T,c.2140A>T,p.S714C |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81078081A>G,c.1978A>G,p.T660A |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81077685G>A,c.1582G>A,p.A528T |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81077664G>A,c.1561G>A,p.V521I |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81077646G>A,c.1543G>A,p.G515R |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81077537_81077538insT,c.1434_1435insT,p.478fs |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81077049G>A,c.946G>A,p.V316I |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81077016A>G,c.913A>G,p.K305E |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81076959A>C,c.856A>C,p.T286P |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81076821T>C,c.718T>C,p.S240P |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81076066G>A,c.643G>A,p.E215K |
| ATMIN(NM_015251,ATM interactor,823aa) | g.16:81075049C>T,c.425C>T,p.P142L |
| ATL3(NM_015459,atlastin GTPase 3,541aa) | g.11:63400521T>C,c.1084A>G,p.I362V |
| ATL3(NM_015459,atlastin GTPase 3,541aa) | g.11:63398888C>T,c.1163G>A,p.C388Y |
| ATL3(NM_015459,atlastin GTPase 3,541aa) | g.11:63396808C>T,c.1609G>A,p.D537N |
| ATL2(NM_022374,atlastin GTPase 2,579aa) | g.2:38604356C>A,c.47G>T,p.G16V |
| ATL2(NM_022374,atlastin GTPase 2,579aa) | g.2:38604351A>G,c.52T>C,p.W18R |
| ATL2(NM_022374,atlastin GTPase 2,579aa) | g.2:38604338C>T,c.65G>A,p.R22Q |
| ATL2(NM_022374,atlastin GTPase 2,579aa) | g.2:38545728G>C,c.552C>G,p.I184M |
| ATL2(NM_022374,atlastin GTPase 2,579aa) | g.2:38537579T>C,c.815A>G,p.N272S |
| ATL2(NM_022374,atlastin GTPase 2,579aa) | g.2:38525660C>G,c.1258G>C,p.D420H |
| ATL2(NM_022374,atlastin GTPase 2,579aa) | g.2:38525591G>A,c.1327C>T,p.R443C |
| ATL1(NM_001127713,atlastin GTPase 1,553aa) | g.14:51098992T>A,c.1597T>A,p.Y533N |
| ATL1(NM_001127713,atlastin GTPase 1,553aa) | g.14:51095131G>A,c.1502G>A,p.R501Q |