Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99864510T>ACA27563415AGLc.585T>A (p.Asn195Lys)
n.796T>A
c.537T>A (p.Asn179Lys)
c.534T>A (p.Asn178Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.99864510T>CCA966211AGLc.585T>C (p.Asn195=)
n.796T>C
c.537T>C (p.Asn179=)
c.534T>C (p.Asn178=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99864510T>GCA341336042AGLc.585T>G (p.Asn195Lys)
n.796T>G
c.537T>G (p.Asn179Lys)
c.534T>G (p.Asn178Lys)
1g.99864510T=CA1183926511AGLc.585T= (p.Asn195=)
n.796T=
c.537T= (p.Asn179=)
c.534T= (p.Asn178=)
1g.99864511G>ACA341336046AGLc.586G>A (p.Asp196Asn)
n.797G>A
c.538G>A (p.Asp180Asn)
c.535G>A (p.Asp179Asn)
 gnomAD v4
1g.99864511G>CCA341336048AGLc.586G>C (p.Asp196His)
n.797G>C
c.538G>C (p.Asp180His)
c.535G>C (p.Asp179His)
1g.99864511G>TCA341336047AGLc.586G>T (p.Asp196Tyr)
n.797G>T
c.538G>T (p.Asp180Tyr)
c.535G>T (p.Asp179Tyr)
1g.99864512A>CCA341336050AGLc.587A>C (p.Asp196Ala)
n.798A>C
c.539A>C (p.Asp180Ala)
c.536A>C (p.Asp179Ala)
1g.99864512A>GCA341336052AGLc.587A>G (p.Asp196Gly)
n.798A>G
c.539A>G (p.Asp180Gly)
c.536A>G (p.Asp179Gly)
1g.99864512A>TCA341336053AGLc.587A>T (p.Asp196Val)
n.798A>T
c.539A>T (p.Asp180Val)
c.536A>T (p.Asp179Val)
1g.99864513T>ACA341336054AGLc.588T>A (p.Asp196Glu)
n.799T>A
c.540T>A (p.Asp180Glu)
c.537T>A (p.Asp179Glu)
1g.99864513T>CCA419096205AGLc.588T>C (p.Asp196=)
n.799T>C
c.540T>C (p.Asp180=)
c.537T>C (p.Asp179=)
 ClinVar gnomAD v4
1g.99864513T>GCA341336055AGLc.588T>G (p.Asp196Glu)
n.799T>G
c.540T>G (p.Asp180Glu)
c.537T>G (p.Asp179Glu)
1g.99864514G>ACA341336058AGLc.589G>A (p.Val197Ile)
n.800G>A
c.541G>A (p.Val181Ile)
c.538G>A (p.Val180Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.99864514G>CCA341336060AGLc.589G>C (p.Val197Leu)
n.800G>C
c.541G>C (p.Val181Leu)
c.538G>C (p.Val180Leu)
1g.99864514G=CA1183926512AGLc.589G= (p.Val197=)
n.800G=
c.541G= (p.Val181=)
c.538G= (p.Val180=)
1g.99864514G>TCA341336062AGLc.589G>T (p.Val197Phe)
n.800G>T
c.541G>T (p.Val181Phe)
c.538G>T (p.Val180Phe)
1g.99864515T>ACA341336065AGLc.590T>A (p.Val197Asp)
n.801T>A
c.542T>A (p.Val181Asp)
c.539T>A (p.Val180Asp)
1g.99864515T>CCA341336067AGLc.590T>C (p.Val197Ala)
n.801T>C
c.542T>C (p.Val181Ala)
c.539T>C (p.Val180Ala)
 gnomAD v4
1g.99864515T>GCA341336069AGLc.590T>G (p.Val197Gly)
n.801T>G
c.542T>G (p.Val181Gly)
c.539T>G (p.Val180Gly)
1g.99864516T>ACA419096210AGLc.591T>A (p.Val197=)
n.802T>A
c.543T>A (p.Val181=)
c.540T>A (p.Val180=)
1g.99864516T>CCA419096212AGLc.591T>C (p.Val197=)
n.802T>C
c.543T>C (p.Val181=)
c.540T>C (p.Val180=)
 ClinVar dbSNP
1g.99864516T>GCA419096211AGLc.591T>G (p.Val197=)
n.802T>G
c.543T>G (p.Val181=)
c.540T>G (p.Val180=)
1g.99864517G>ACA341336078AGLc.592G>A (p.Gly198Arg)
n.803G>A
c.544G>A (p.Gly182Arg)
c.541G>A (p.Gly181Arg)
1g.99864517G>CCA341336072AGLc.592G>C (p.Gly198Arg)
n.803G>C
c.544G>C (p.Gly182Arg)
c.541G>C (p.Gly181Arg)
1g.99864517G>TCA341336077AGLc.592G>T (p.Gly198Ter)
n.803G>T
c.544G>T (p.Gly182Ter)
c.541G>T (p.Gly181Ter)
1g.99864518delCA2744755357AGLc.593del (p.Gly198AspfsTer3)
n.804del
c.545del (p.Gly182AspfsTer3)
c.542del (p.Gly181AspfsTer3)
1g.99864518G>ACA341336082AGLc.593G>A (p.Gly198Glu)
n.804G>A
c.545G>A (p.Gly182Glu)
c.542G>A (p.Gly181Glu)
1g.99864518G>CCA341336085AGLc.593G>C (p.Gly198Ala)
n.804G>C
c.545G>C (p.Gly182Ala)
c.542G>C (p.Gly181Ala)
1g.99864518G>TCA341336086AGLc.593G>T (p.Gly198Val)
n.804G>T
c.545G>T (p.Gly182Val)
c.542G>T (p.Gly181Val)
 COSMIC COSMIC
1g.99864519A>CCA419096213AGLc.594A>C (p.Gly198=)
n.805A>C
c.546A>C (p.Gly182=)
c.543A>C (p.Gly181=)
1g.99864519A>GCA419096214AGLc.594A>G (p.Gly198=)
n.805A>G
c.546A>G (p.Gly182=)
c.543A>G (p.Gly181=)
 ClinVar dbSNP
1g.99864519A>TCA419096215AGLc.594A>T (p.Gly198=)
n.805A>T
c.546A>T (p.Gly182=)
c.543A>T (p.Gly181=)
 ClinVar dbSNP
1g.99864520C>ACA341336088AGLc.595C>A (p.Gln199Lys)
n.806C>A
c.547C>A (p.Gln183Lys)
c.544C>A (p.Gln182Lys)
1g.99864520C=CA1183926513AGLc.595C= (p.Gln199=)
n.806C=
c.547C= (p.Gln183=)
c.544C= (p.Gln182=)
1g.99864520C>GCA341336089AGLc.595C>G (p.Gln199Glu)
n.806C>G
c.547C>G (p.Gln183Glu)
c.544C>G (p.Gln182Glu)
1g.99864520C>TCA966212AGLc.595C>T (p.Gln199Ter)
n.806C>T
c.547C>T (p.Gln183Ter)
c.544C>T (p.Gln182Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99864521A=CA1183926516AGLc.596A= (p.Gln199=)
n.807A=
c.548A= (p.Gln183=)
c.545A= (p.Gln182=)
1g.99864521A>CCA341336092AGLc.596A>C (p.Gln199Pro)
n.807A>C
c.548A>C (p.Gln183Pro)
c.545A>C (p.Gln182Pro)
1g.99864521A>GCA341336095AGLc.596A>G (p.Gln199Arg)
n.807A>G
c.548A>G (p.Gln183Arg)
c.545A>G (p.Gln182Arg)
1g.99864521A>TCA341336097AGLc.596A>T (p.Gln199Leu)
n.807A>T
c.548A>T (p.Gln183Leu)
c.545A>T (p.Gln182Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.99864522delCA2586967074AGLc.597del (p.Gln199HisfsTer2)
n.808del
c.549del (p.Gln183HisfsTer2)
c.546del (p.Gln182HisfsTer2)
1g.99864522G>ACA419096217AGLc.597G>A (p.Gln199=)
n.808G>A
c.549G>A (p.Gln183=)
c.546G>A (p.Gln182=)
1g.99864522G>CCA341336098AGLc.597G>C (p.Gln199His)
n.808G>C
c.549G>C (p.Gln183His)
c.546G>C (p.Gln182His)
1g.99864522G>TCA341336100AGLc.597G>T (p.Gln199His)
n.808G>T
c.549G>T (p.Gln183His)
c.546G>T (p.Gln182His)
1g.99864523C>ACA341336102AGLc.598C>A (p.Leu200Ile)
n.809C>A
c.550C>A (p.Leu184Ile)
c.547C>A (p.Leu183Ile)
1g.99864523C=CA1183926520AGLc.598C= (p.Leu200=)
n.809C=
c.550C= (p.Leu184=)
c.547C= (p.Leu183=)
1g.99864523C>GCA341336103AGLc.598C>G (p.Leu200Val)
n.809C>G
c.550C>G (p.Leu184Val)
c.547C>G (p.Leu183Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99864523C>TCA419096219AGLc.598C>T (p.Leu200=)
n.809C>T
c.550C>T (p.Leu184=)
c.547C>T (p.Leu183=)
1g.99864524T>ACA341336108AGLc.599T>A (p.Leu200Gln)
n.810T>A
c.551T>A (p.Leu184Gln)
c.548T>A (p.Leu183Gln)

Number of alleles fetched