| Genename | Variants |
|---|---|
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327921C>A,c.621G>T,p.Q207H |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327918C>A,c.624G>T,p.Q208H |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327915A>C,c.627T>G,p.H209Q |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327913_16327915del,c.627_629del,p.209_210del |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327912C>A,c.630G>T,p.Q210H |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327909A>C,c.633T>G,p.H211Q |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327906C>A,c.636G>T,p.Q212H |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327903C>A,c.639G>T,p.Q213H |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327900C>A,c.642G>T,p.Q214H |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327897C>A,c.645G>T,p.Q215H |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327770C>A,c.772G>T,p.G258C |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327589A>G,c.953T>C,p.I318T |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327462G>T,c.1080C>A,p.H360Q |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327335G>A,c.1207C>T,p.R403C |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16327262G>A,c.1280C>T,p.A427V |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16306858G>A,c.2150C>T,p.A717V |
| ATXN1(NM_000332,ataxin 1,815aa) | g.6:16306751G>A,c.2257C>T,p.P753S |
| ATXN1L(NM_001137675,ataxin 1-like,689aa) | g.16:71885433C>A,c.1790C>A,p.P597H |
| ATXN1L(NM_001137675,ataxin 1-like,689aa) | g.16:71885423A>G,c.1780A>G,p.S594G |
| ATXN1L(NM_001137675,ataxin 1-like,689aa) | g.16:71884880A>G,c.1237A>G,p.M413V |
| ATXN1L(NM_001137675,ataxin 1-like,689aa) | g.16:71884659G>A,c.1016G>A,p.R339Q |
| ATXN1L(NM_001137675,ataxin 1-like,689aa) | g.16:71884629G>A,c.986G>A,p.G329E |
| ATXN1L(NM_001137675,ataxin 1-like,689aa) | g.16:71884369G>T,c.726G>T,p.L242F |
| ATXN1L(NM_001137675,ataxin 1-like,689aa) | g.16:71884328A>G,c.685A>G,p.I229V |
| ATXN1L(NM_001137675,ataxin 1-like,689aa) | g.16:71884320G>A,c.677G>A,p.R226Q |
| ATXN1L(NM_001137675,ataxin 1-like,689aa) | g.16:71884233C>T,c.590C>T,p.S197L |
| ATXN1L(NM_001137675,ataxin 1-like,689aa) | g.16:71884209C>A,c.566C>A,p.P189Q |
| ATXN1L(NM_001137675,ataxin 1-like,689aa) | g.16:71883828G>A,c.185G>A,p.S62N |