Genename |
Variants |
ATP10A(NM_024490,ATPase, class V, type 10A,1499aa) |
g.15:25925284C>T,c.3850G>A,p.A1284T |
ATP10A(NM_024490,ATPase, class V, type 10A,1499aa) |
g.15:25925094C>G,c.3894G>C,p.R1298S |
ATP10A(NM_024490,ATPase, class V, type 10A,1499aa) |
g.15:25924967C>A,c.4021G>T,p.G1341W |
ATP10A(NM_024490,ATPase, class V, type 10A,1499aa) |
g.15:25924798G>A,c.4190C>T,p.A1397V |
ATP10A(NM_024490,ATPase, class V, type 10A,1499aa) |
g.15:25924705G>A,c.4283C>T,p.S1428F |
ATP10A(NM_024490,ATPase, class V, type 10A,1499aa) |
g.15:25924583G>A,c.4405C>T,p.R1469C |
ATP10A(NM_024490,ATPase, class V, type 10A,1499aa) |
g.15:25924582C>T,c.4406G>A,p.R1469H |
ATOH8(NM_032827,atonal homolog 8 (Drosophila),321aa) |
g.2:85991268G>T,c.923G>T,p.R308L |
ATOH8(NM_032827,atonal homolog 8 (Drosophila),321aa) |
g.2:85981859C>G,c.547C>G,p.P183A |
ATOH8(NM_032827,atonal homolog 8 (Drosophila),321aa) |
g.2:85981844A>C,c.532A>C,p.T178P |
ATOH8(NM_032827,atonal homolog 8 (Drosophila),321aa) |
g.2:85981841T>G,c.529T>G,p.S177A |
ATOH8(NM_032827,atonal homolog 8 (Drosophila),321aa) |
g.2:85981797G>A,c.485G>A,p.R162H |
ATOH8(NM_032827,atonal homolog 8 (Drosophila),321aa) |
g.2:85981761T>C,c.449T>C,p.L150P |
ATOH8(NM_032827,atonal homolog 8 (Drosophila),321aa) |
g.2:85981436A>G,c.124A>G,p.T42A |
ATOH7(NM_145178,atonal homolog 7 (Drosophila),152aa) |
g.10:69991263T>C,c.172A>G,p.T58A |
ATOH7(NM_145178,atonal homolog 7 (Drosophila),152aa) |
g.10:69991242T>C,c.193A>G,p.R65G |
ATOH1(NM_005172,atonal homolog 1 (Drosophila),354aa) |
g.4:94750994T>C,c.917T>C,p.M306T |
ATOH1(NM_005172,atonal homolog 1 (Drosophila),354aa) |
g.4:94750885G>C,c.808G>C,p.G270R |
ATOH1(NM_005172,atonal homolog 1 (Drosophila),354aa) |
g.4:94750788C>A,c.711C>A,p.H237Q |
ATOH1(NM_005172,atonal homolog 1 (Drosophila),354aa) |
g.4:94750491C>G,c.414C>G,p.D138E |
ATN1(NM_001007026,atrophin 1,1190aa) |
g.12:7047954G>A,c.2828G>A,p.R943H |
ATN1(NM_001007026,atrophin 1,1190aa) |
g.12:7047949C>G,c.2823C>G,p.D941E |
ATN1(NM_001007026,atrophin 1,1190aa) |
g.12:7047911G>A,c.2785G>A,p.A929T |
ATN1(NM_001007026,atrophin 1,1190aa) |
g.12:7047845del,c.2719del,p.907fs |
ATN1(NM_001007026,atrophin 1,1190aa) |
g.12:7047842G>A,c.2716G>A,p.V906M |
ATN1(NM_001007026,atrophin 1,1190aa) |
g.12:7045939T>G,c.1509T>G,p.H503Q |
ATN1(NM_001007026,atrophin 1,1190aa) |
g.12:7045936G>T,c.1506G>T,p.Q502H |
ATN1(NM_001007026,atrophin 1,1190aa) |
g.12:7045892_7045912del,c.1462_1482del,p.488_494del |