Genename |
Variants |
ATXN3L(NM_001135995,ataxin 3-like,355aa) |
g.X:13337120C>T,c.934G>A,p.E312K |
ATXN3L(NM_001135995,ataxin 3-like,355aa) |
g.X:13337092A>G,c.962T>C,p.I321T |
ATXN3L(NM_001135995,ataxin 3-like,355aa) |
g.X:13337059C>T,c.995G>A,p.G332D |
ATXN2(NM_002973,ataxin 2,1313aa) |
g.12:112037000G>C,c.319C>G,p.L107V |
ATXN2(NM_002973,ataxin 2,1313aa) |
g.12:112036756T>G,c.563A>C,p.Q188P |
ATXN2(NM_002973,ataxin 2,1313aa) |
g.12:112036754_112036756del,c.563_565del,p.188_189del |
ATXN2(NM_002973,ataxin 2,1313aa) |
g.12:111993712C>T,c.743G>A,p.S248N |
ATXN2(NM_002973,ataxin 2,1313aa) |
g.12:111954044G>A,c.1769C>T,p.S590L |
ATXN2(NM_002973,ataxin 2,1313aa) |
g.12:111953982T>C,c.1831A>G,p.M611V |
ATXN2(NM_002973,ataxin 2,1313aa) |
g.12:111948306G>A,c.2119C>T,p.L707F |
ATXN2(NM_002973,ataxin 2,1313aa) |
g.12:111947754T>A,c.2285A>T,p.N762I |
ATXN2(NM_002973,ataxin 2,1313aa) |
g.12:111947712G>A,c.2327C>T,p.S776L |
ATXN2(NM_002973,ataxin 2,1313aa) |
g.12:111902514G>A,c.3322C>T,p.P1108S |
ATXN2L(NM_007245,ataxin 2-like,1075aa) |
g.16:28845892G>A,c.2311G>A,p.A771T |
ATXN2L(NM_007245,ataxin 2-like,1075aa) |
g.16:28842015G>A,c.1114G>A,p.G372S |
ATXN2L(NM_007245,ataxin 2-like,1075aa) |
g.16:28841300G>A,c.955G>A,p.D319N |
ATXN2L(NM_007245,ataxin 2-like,1075aa) |
g.16:28841222G>C,c.877G>C,p.E293Q |
ATXN2L(NM_007245,ataxin 2-like,1075aa) |
g.16:28837687G>A,c.592G>A,p.V198I |
ATXN2L(NM_007245,ataxin 2-like,1075aa) |
g.16:28836957G>A,c.349G>A,p.V117I |
ATXN2L(NM_007245,ataxin 2-like,1075aa) |
g.16:28834632C>A,c.52C>A,p.P18T |
ATXN1(NM_000332,ataxin 1,815aa) |
g.6:16328447G>C,c.95C>G,p.T32S |
ATXN1(NM_000332,ataxin 1,815aa) |
g.6:16328258G>A,c.284C>T,p.S95F |
ATXN1(NM_000332,ataxin 1,815aa) |
g.6:16328200_16328201insG,c.341_342insC,p.114fs |
ATXN1(NM_000332,ataxin 1,815aa) |
g.6:16327986T>A,c.556A>T,p.S186C |
ATXN1(NM_000332,ataxin 1,815aa) |
g.6:16327936C>A,c.606G>T,p.Q202H |
ATXN1(NM_000332,ataxin 1,815aa) |
g.6:16327933C>A,c.609G>T,p.Q203H |
ATXN1(NM_000332,ataxin 1,815aa) |
g.6:16327930C>A,c.612G>T,p.Q204H |
ATXN1(NM_000332,ataxin 1,815aa) |
g.6:16327927C>A,c.615G>T,p.Q205H |