| Genename | Variants |
|---|---|
| ATN1(NM_001007026,atrophin 1,1190aa) | g.12:7045892_7045906del,c.1462_1476del,p.488_492del |
| ATN1(NM_001007026,atrophin 1,1190aa) | g.12:7045254C>T,c.824C>T,p.P275L |
| ATN1(NM_001007026,atrophin 1,1190aa) | g.12:7045178G>A,c.748G>A,p.G250S |
| ATN1(NM_001007026,atrophin 1,1190aa) | g.12:7045136A>C,c.706A>C,p.K236Q |
| ATN1(NM_001007026,atrophin 1,1190aa) | g.12:7044966C>T,c.536C>T,p.P179L |
| ATN1(NM_001007026,atrophin 1,1190aa) | g.12:7044942C>T,c.512C>T,p.P171L |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108216609C>T,c.8558C>T,p.T2853M |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108202716A>C,c.7740A>C,p.R2580S |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108201014C>T,c.7381C>T,p.R2461C |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108192078C>T,c.6503C>T,p.S2168L |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108188136G>A,c.6235G>A,p.V2079I |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108186743G>A,c.6101G>A,p.R2034Q |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108186631A>G,c.6088A>G,p.I2030V |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108186610G>A,c.6067G>A,p.G2023R |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108183167A>G,c.5948A>G,p.N1983S |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108178642G>A,c.5693G>A,p.R1898Q |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108175463A>T,c.5558A>T,p.D1853V |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108175462G>A,c.5557G>A,p.D1853N |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108170506A>C,c.5071A>C,p.S1691R |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108170498T>C,c.5063T>C,p.I1688T |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108168053A>G,c.4949A>G,p.N1650S |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108163487C>T,c.4578C>T,p.P1526P |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108163382C>T,c.4473C>T,p.F1491F |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108160350C>T,c.4258C>T,p.L1420F |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108159732C>T,c.4138C>T,p.H1380Y |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108155170G>A,c.3963G>A,p.M1321I |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108155132G>A,c.3925G>A,p.A1309T |
| ATM(NM_000051,ataxia telangiectasia mutated,3056aa) | g.11:108151824G>A,c.3505G>A,p.E1169K |