| Genename | Variants |
|---|---|
| ATXN7(NM_000333,ataxin 7,892aa) | g.3:63968025A>T,c.916A>T,p.I306F |
| ATXN7(NM_000333,ataxin 7,892aa) | g.3:63967900A>G,c.791A>G,p.K264R |
| ATXN7(NM_000333,ataxin 7,892aa) | g.3:63965629G>A,c.538G>A,p.V180I |
| ATXN7L3(NM_020218,ataxin 7-like 3,354aa) | g.17:42274386T>C,c.365A>G,p.N122S |
| ATXN7L3(NM_020218,ataxin 7-like 3,354aa) | g.17:42271694G>C,c.1002C>G,p.N334K |
| ATXN7L2(NM_153340,ataxin 7-like 2,722aa) | g.1:110033855C>T,c.1670C>T,p.S557F |
| ATXN7L2(NM_153340,ataxin 7-like 2,722aa) | g.1:110033668C>T,c.1483C>T,p.P495S |
| ATXN7L2(NM_153340,ataxin 7-like 2,722aa) | g.1:110032976C>A,c.1320C>A,p.S440R |
| ATXN7L2(NM_153340,ataxin 7-like 2,722aa) | g.1:110029711T>G,c.381T>G,p.H127Q |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105429124T>C,c.281A>G,p.H94R |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105429087G>C,c.318C>G,p.N106K |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105429058G>A,c.347C>T,p.S116L |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105305600G>A,c.491C>T,p.P164L |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105283493G>T,c.654C>A,p.N218K |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105283337C>A,c.810G>T,p.K270N |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105264695T>C,c.1222A>G,p.I408V |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105254872C>T,c.1909G>A,p.D637N |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105254802_105254804del,c.1977_1979del,p.659_660del |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105254529G>A,c.2252C>T,p.A751V |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105254521C>T,c.2260G>A,p.A754T |
| ATXN7L1(NM_020725,ataxin 7-like 1,861aa) | g.7:105250980C>T,c.2543G>A,p.R848Q |
| ATXN3(NM_004993,ataxin 3,361aa) | g.14:92548785C>T,c.634G>A,p.V212M |
| ATXN3(NM_004993,ataxin 3,361aa) | g.14:92548709C>T,c.710G>A,p.R237H |
| ATXN3(NM_004993,ataxin 3,361aa) | g.14:92537354C>G,c.916G>C,p.G306R |
| ATXN3L(NM_001135995,ataxin 3-like,355aa) | g.X:13337978C>A,c.76G>T,p.E26X |
| ATXN3L(NM_001135995,ataxin 3-like,355aa) | g.X:13337806G>A,c.248C>T,p.A83V |
| ATXN3L(NM_001135995,ataxin 3-like,355aa) | g.X:13337363T>C,c.691A>G,p.R231G |
| ATXN3L(NM_001135995,ataxin 3-like,355aa) | g.X:13337291T>C,c.763A>G,p.M255V |