Genename |
Variants |
ATXN1L(NM_001137675,ataxin 1-like,689aa) |
g.16:71883666G>A,c.23G>A,p.S8N |
ATXN10(NM_013236,ataxin 10,475aa) |
g.22:46238914A>C,c.1281A>C,p.E427D |
ATXN10(NM_013236,ataxin 10,475aa) |
g.22:46067998C>T,c.55C>T,p.P19S |
ATRX(NM_000489,alpha thalassemia/mental retardation syndrome X-linked,2492aa) |
g.X:76938923G>C,c.1825C>G,p.P609A |
ATRX(NM_000489,alpha thalassemia/mental retardation syndrome X-linked,2492aa) |
g.X:76938868C>T,c.1880G>A,p.C627Y |
ATRX(NM_000489,alpha thalassemia/mental retardation syndrome X-linked,2492aa) |
g.X:76938748G>A,c.2000C>T,p.P667L |
ATRX(NM_000489,alpha thalassemia/mental retardation syndrome X-linked,2492aa) |
g.X:76938579C>G,c.2169G>C,p.E723D |
ATRX(NM_000489,alpha thalassemia/mental retardation syndrome X-linked,2492aa) |
g.X:76938282T>G,c.2466A>C,p.E822D |
ATRX(NM_000489,alpha thalassemia/mental retardation syndrome X-linked,2492aa) |
g.X:76938208A>G,c.2540T>C,p.F847S |
ATRX(NM_000489,alpha thalassemia/mental retardation syndrome X-linked,2492aa) |
g.X:76938153G>C,c.2595C>G,p.H865Q |
ATRX(NM_000489,alpha thalassemia/mental retardation syndrome X-linked,2492aa) |
g.X:76937963G>C,c.2785C>G,p.Q929E |
ATRX(NM_000489,alpha thalassemia/mental retardation syndrome X-linked,2492aa) |
g.X:76937942C>G,c.2806G>C,p.V936L |
ATRX(NM_000489,alpha thalassemia/mental retardation syndrome X-linked,2492aa) |
g.X:76856021T>C,c.5579A>G,p.N1860S |
ATRX(NM_000489,alpha thalassemia/mental retardation syndrome X-linked,2492aa) |
g.X:76763873T>C,c.7435A>G,p.M2479V |
ATRN(NM_139321,attractin,1429aa) |
g.20:3624844A>G,c.4094A>G,p.K1365R |
ATRN(NM_139321,attractin,1429aa) |
g.20:3584784G>A,c.3676G>A,p.V1226I |
ATRN(NM_139321,attractin,1429aa) |
g.20:3577062G>A,c.3455G>A,p.R1152K |
ATRN(NM_139321,attractin,1429aa) |
g.20:3562866A>G,c.2629A>G,p.N877D |
ATRN(NM_139321,attractin,1429aa) |
g.20:3562780A>C,c.2545-2A>C,p.849Acceptor |
ATRN(NM_139321,attractin,1429aa) |
g.20:3559282A>G,c.2407A>G,p.T803A |
ATRN(NM_139321,attractin,1429aa) |
g.20:3553472G>A,c.1966G>A,p.A656T |
ATRN(NM_139321,attractin,1429aa) |
g.20:3553461G>A,c.1955G>A,p.R652Q |
ATRN(NM_139321,attractin,1429aa) |
g.20:3543878del,c.1654del,p.552fs |
ATRN(NM_139321,attractin,1429aa) |
g.20:3541462A>T,c.1357A>T,p.T453S |
ATRN(NM_139321,attractin,1429aa) |
g.20:3541382T>C,c.1277T>C,p.I426T |
ATRN(NM_139321,attractin,1429aa) |
g.20:3528101A>C,c.908A>C,p.D303A |
ATRN(NM_139321,attractin,1429aa) |
g.20:3528098G>A,c.905G>A,p.S302N |
ATRN(NM_139321,attractin,1429aa) |
g.20:3520954A>G,c.580A>G,p.I194V |