Genename |
Variants |
AURKAIP1(NM_017900,aurora kinase A interacting protein 1,199aa) |
g.1:1309567G>A,c.311C>T,p.P104L |
AURKAIP1(NM_017900,aurora kinase A interacting protein 1,199aa) |
g.1:1309557C>G,c.321G>C,p.Q107H |
AURKAIP1(NM_017900,aurora kinase A interacting protein 1,199aa) |
g.1:1309426C>T,c.452G>A,p.R151Q |
AURKAIP1(NM_017900,aurora kinase A interacting protein 1,199aa) |
g.1:1309405T>C,c.473A>G,p.Q158R |
AURKAIP1(NM_017900,aurora kinase A interacting protein 1,199aa) |
g.1:1309185T>C,c.596A>G,p.K199R |
AUP1(NM_181575,ancient ubiquitous protein 1,410aa) |
g.2:74756499C>G,c.178G>C,p.V60L |
AUP1(NM_181575,ancient ubiquitous protein 1,410aa) |
g.2:74756014T>G,c.388A>C,p.M130L |
AUNIP(NM_024037,aurora kinase A and ninein interacting protein,357aa) |
g.1:26163981A>G,c.143T>C,p.I48T |
AUNIP(NM_024037,aurora kinase A and ninein interacting protein,357aa) |
g.1:26162313T>G,c.245A>C,p.K82T |
AUNIP(NM_024037,aurora kinase A and ninein interacting protein,357aa) |
g.1:26162158G>T,c.400C>A,p.P134T |
AUNIP(NM_024037,aurora kinase A and ninein interacting protein,357aa) |
g.1:26162016C>T,c.542G>A,p.S181N |
AUNIP(NM_024037,aurora kinase A and ninein interacting protein,357aa) |
g.1:26161671C>T,c.887G>A,p.R296Q |
AUNIP(NM_024037,aurora kinase A and ninein interacting protein,357aa) |
g.1:26161593T>C,c.965A>G,p.N322S |
AUH(NM_001698,AU RNA binding protein/enoyl-CoA hydratase,339aa) |
g.9:94124095C>T,c.77G>A,p.C26Y |
AUH(NM_001698,AU RNA binding protein/enoyl-CoA hydratase,339aa) |
g.9:94123990G>T,c.182C>A,p.P61H |
AUH(NM_001698,AU RNA binding protein/enoyl-CoA hydratase,339aa) |
g.9:94118209C>T,c.374G>A,p.R125Q |
AUH(NM_001698,AU RNA binding protein/enoyl-CoA hydratase,339aa) |
g.9:93983200C>T,c.730G>A,p.D244N |
ATXN7(NM_000333,ataxin 7,892aa) |
g.3:63982082G>A,c.2584G>A,p.V862M |
ATXN7(NM_000333,ataxin 7,892aa) |
g.3:63982059C>T,c.2561C>T,p.T854I |
ATXN7(NM_000333,ataxin 7,892aa) |
g.3:63981444C>T,c.1946C>T,p.S649L |
ATXN7(NM_000333,ataxin 7,892aa) |
g.3:63981399C>T,c.1901C>T,p.A634V |
ATXN7(NM_000333,ataxin 7,892aa) |
g.3:63981237G>A,c.1739G>A,p.R580Q |
ATXN7(NM_000333,ataxin 7,892aa) |
g.3:63981215A>G,c.1717A>G,p.I573V |
ATXN7(NM_000333,ataxin 7,892aa) |
g.3:63976489G>A,c.1636G>A,p.A546T |
ATXN7(NM_000333,ataxin 7,892aa) |
g.3:63976484G>A,c.1631G>A,p.R544H |
ATXN7(NM_000333,ataxin 7,892aa) |
g.3:63968089A>G,c.980A>G,p.N327S |
ATXN7(NM_000333,ataxin 7,892aa) |
g.3:63968083A>G,c.974A>G,p.N325S |
ATXN7(NM_000333,ataxin 7,892aa) |
g.3:63968059C>T,c.950C>T,p.T317I |