Genename |
Variants |
AS3MT(NM_020682,arsenic (+3 oxidation state) methyltransferase,375aa) |
g.10:104650305G>A,c.890G>A,p.G297D |
AS3MT(NM_020682,arsenic (+3 oxidation state) methyltransferase,375aa) |
g.10:104638723T>C,c.860T>C,p.M287T |
AS3MT(NM_020682,arsenic (+3 oxidation state) methyltransferase,375aa) |
g.10:104632301C>A,c.267C>A,p.S89R |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19978305T>C,c.13A>G,p.N5D |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19978254G>A,c.64C>T,p.R22C |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19969137G>A,c.493C>T,p.R165W |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19969106A>G,c.524T>C,p.V175A |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19969043C>T,c.587G>A,p.R196Q |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19968971G>A,c.659C>T,p.P220L |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19968887C>T,c.743G>A,p.R248H |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19968833C>T,c.797G>A,p.R266H |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19967673C>T,c.989G>A,p.R330Q |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19965563C>T,c.1616G>A,p.R539Q |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19965501G>A,c.1678C>T,p.R560W |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19964986G>A,c.1822C>T,p.R608C |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19963271T>G,c.1898A>C,p.D633A |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19961692G>C,c.2031C>G,p.F677L |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19961288C>T,c.2117G>A,p.R706H |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19961270G>C,c.2135C>G,p.P712R |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19960727C>T,c.2353G>A,p.E785K |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19960548C>G,c.2450G>C,p.R817P |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19960536G>A,c.2462C>T,p.A821V |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19960533G>A,c.2465C>T,p.A822V |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19960326G>A,c.2575C>T,p.P859S |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19959473C>T,c.2717G>A,p.R906Q |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19959465G>A,c.2725C>T,p.R909W |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19959464C>T,c.2726G>A,p.R909Q |
ARVCF(NM_001670,armadillo repeat gene deleted in velocardiofacial syndrome,962aa) |
g.22:19959456G>A,c.2734C>T,p.R912W |