Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.43576972G>ACA433573441ANO10c.882C>T (p.Ile294=)
c.593-2108C>T (n.593-2108C>T)
c.684C>T (p.Ile228=)
c.473-11245C>T (n.473-11245C>T)
c.549C>T (p.Ile183=)
n.998C>T
 COSMIC
3g.43576972G>CCA352343745ANO10c.882C>G (p.Ile294Met)
c.593-2108C>G (n.593-2108C>G)
c.684C>G (p.Ile228Met)
c.473-11245C>G (n.473-11245C>G)
c.549C>G (p.Ile183Met)
n.998C>G
 ClinVar dbSNP
3g.43576972G=CA1360853157ANO10c.882C= (p.Ile294=)
c.593-2108C= (n.593-2108C=)
c.684C= (p.Ile228=)
c.473-11245C= (n.473-11245C=)
c.549C= (p.Ile183=)
n.998C=
3g.43576972G>TCA433573438ANO10c.882C>A (p.Ile294=)
c.593-2108C>A (n.593-2108C>A)
c.684C>A (p.Ile228=)
c.473-11245C>A (n.473-11245C>A)
c.549C>A (p.Ile183=)
n.998C>A
3g.43576973A=CA1360853158ANO10c.881T= (p.Ile294=)
c.593-2109T= (n.593-2109T=)
c.683T= (p.Ile228=)
c.473-11246T= (n.473-11246T=)
c.548T= (p.Ile183=)
n.997T=
3g.43576973A>CCA2340927ANO10c.881T>G (p.Ile294Ser)
c.593-2109T>G (n.593-2109T>G)
c.683T>G (p.Ile228Ser)
c.473-11246T>G (n.473-11246T>G)
c.548T>G (p.Ile183Ser)
n.997T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.43576973A>GCA352343748ANO10c.881T>C (p.Ile294Thr)
c.593-2109T>C (n.593-2109T>C)
c.683T>C (p.Ile228Thr)
c.473-11246T>C (n.473-11246T>C)
c.548T>C (p.Ile183Thr)
n.997T>C
3g.43576973A>TCA352343750ANO10c.881T>A (p.Ile294Asn)
c.593-2109T>A (n.593-2109T>A)
c.683T>A (p.Ile228Asn)
c.473-11246T>A (n.473-11246T>A)
c.548T>A (p.Ile183Asn)
n.997T>A
3g.43576974T>ACA352343752ANO10c.880A>T (p.Ile294Phe)
c.593-2110A>T (n.593-2110A>T)
c.682A>T (p.Ile228Phe)
c.473-11247A>T (n.473-11247A>T)
c.547A>T (p.Ile183Phe)
n.996A>T
3g.43576974T>CCA352343754ANO10c.880A>G (p.Ile294Val)
c.593-2110A>G (n.593-2110A>G)
c.682A>G (p.Ile228Val)
c.473-11247A>G (n.473-11247A>G)
c.547A>G (p.Ile183Val)
n.996A>G
3g.43576974T>GCA352343755ANO10c.880A>C (p.Ile294Leu)
c.593-2110A>C (n.593-2110A>C)
c.682A>C (p.Ile228Leu)
c.473-11247A>C (n.473-11247A>C)
c.547A>C (p.Ile183Leu)
n.996A>C
3g.43576975A>CCA433573445ANO10c.879T>G (p.Gly293=)
c.593-2111T>G (n.593-2111T>G)
c.681T>G (p.Gly227=)
c.473-11248T>G (n.473-11248T>G)
c.546T>G (p.Gly182=)
n.995T>G
3g.43576975A>GCA433573447ANO10c.879T>C (p.Gly293=)
c.593-2111T>C (n.593-2111T>C)
c.681T>C (p.Gly227=)
c.473-11248T>C (n.473-11248T>C)
c.546T>C (p.Gly182=)
n.995T>C
3g.43576975A>TCA433573448ANO10c.879T>A (p.Gly293=)
c.593-2111T>A (n.593-2111T>A)
c.681T>A (p.Gly227=)
c.473-11248T>A (n.473-11248T>A)
c.546T>A (p.Gly182=)
n.995T>A
3g.43576976C>ACA352343760ANO10c.878G>T (p.Gly293Val)
c.593-2112G>T (n.593-2112G>T)
c.680G>T (p.Gly227Val)
c.473-11249G>T (n.473-11249G>T)
c.545G>T (p.Gly182Val)
n.994G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.43576976C=CA1360853159ANO10c.878G= (p.Gly293=)
c.593-2112G= (n.593-2112G=)
c.680G= (p.Gly227=)
c.473-11249G= (n.473-11249G=)
c.545G= (p.Gly182=)
n.994G=
3g.43576976C>GCA352343758ANO10c.878G>C (p.Gly293Ala)
c.593-2112G>C (n.593-2112G>C)
c.680G>C (p.Gly227Ala)
c.473-11249G>C (n.473-11249G>C)
c.545G>C (p.Gly182Ala)
n.994G>C
 dbSNP gnomAD v2 gnomAD v4
3g.43576976C>TCA352343757ANO10c.878G>A (p.Gly293Asp)
c.593-2112G>A (n.593-2112G>A)
c.680G>A (p.Gly227Asp)
c.473-11249G>A (n.473-11249G>A)
c.545G>A (p.Gly182Asp)
n.994G>A
 gnomAD v4
3g.43576977C>ACA2340928ANO10c.877G>T (p.Gly293Cys)
c.593-2113G>T (n.593-2113G>T)
c.679G>T (p.Gly227Cys)
c.473-11250G>T (n.473-11250G>T)
c.544G>T (p.Gly182Cys)
n.993G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43576977C=CA1360853160ANO10c.877G= (p.Gly293=)
c.593-2113G= (n.593-2113G=)
c.679G= (p.Gly227=)
c.473-11250G= (n.473-11250G=)
c.544G= (p.Gly182=)
n.993G=
3g.43576977C>GCA352343763ANO10c.877G>C (p.Gly293Arg)
c.593-2113G>C (n.593-2113G>C)
c.679G>C (p.Gly227Arg)
c.473-11250G>C (n.473-11250G>C)
c.544G>C (p.Gly182Arg)
n.993G>C
 gnomAD v4
3g.43576977C>TCA352343764ANO10c.877G>A (p.Gly293Ser)
c.593-2113G>A (n.593-2113G>A)
c.679G>A (p.Gly227Ser)
c.473-11250G>A (n.473-11250G>A)
c.544G>A (p.Gly182Ser)
n.993G>A
 gnomAD v4
3g.43576978C>ACA352343765ANO10c.876G>T (p.Leu292Phe)
c.593-2114G>T (n.593-2114G>T)
c.678G>T (p.Leu226Phe)
c.473-11251G>T (n.473-11251G>T)
c.543G>T (p.Leu181Phe)
n.992G>T
3g.43576978C=CA1360853161ANO10c.876G= (p.Leu292=)
c.593-2114G= (n.593-2114G=)
c.678G= (p.Leu226=)
c.473-11251G= (n.473-11251G=)
c.543G= (p.Leu181=)
n.992G=
3g.43576978C>GCA74378016ANO10c.876G>C (p.Leu292Phe)
c.593-2114G>C (n.593-2114G>C)
c.678G>C (p.Leu226Phe)
c.473-11251G>C (n.473-11251G>C)
c.543G>C (p.Leu181Phe)
n.992G>C
 dbSNP gnomAD v4
3g.43576978C>TCA433573457ANO10c.876G>A (p.Leu292=)
c.593-2114G>A (n.593-2114G>A)
c.678G>A (p.Leu226=)
c.473-11251G>A (n.473-11251G>A)
c.543G>A (p.Leu181=)
n.992G>A
3g.43576979A>CCA352343766ANO10c.875T>G (p.Leu292Trp)
c.593-2115T>G (n.593-2115T>G)
c.677T>G (p.Leu226Trp)
c.473-11252T>G (n.473-11252T>G)
c.542T>G (p.Leu181Trp)
n.991T>G
3g.43576979A>GCA352343767ANO10c.875T>C (p.Leu292Ser)
c.593-2115T>C (n.593-2115T>C)
c.677T>C (p.Leu226Ser)
c.473-11252T>C (n.473-11252T>C)
c.542T>C (p.Leu181Ser)
n.991T>C
3g.43576979A>TCA352343768ANO10c.875T>A (p.Leu292Ter)
c.593-2115T>A (n.593-2115T>A)
c.677T>A (p.Leu226Ter)
c.473-11252T>A (n.473-11252T>A)
c.542T>A (p.Leu181Ter)
n.991T>A
3g.43576980A>CCA352343769ANO10c.874T>G (p.Leu292Val)
c.593-2116T>G (n.593-2116T>G)
c.676T>G (p.Leu226Val)
c.473-11253T>G (n.473-11253T>G)
c.541T>G (p.Leu181Val)
n.990T>G
3g.43576980A>GCA433573462ANO10c.874T>C (p.Leu292=)
c.593-2116T>C (n.593-2116T>C)
c.676T>C (p.Leu226=)
c.473-11253T>C (n.473-11253T>C)
c.541T>C (p.Leu181=)
n.990T>C
3g.43576980A>TCA352343770ANO10c.874T>A (p.Leu292Met)
c.593-2116T>A (n.593-2116T>A)
c.676T>A (p.Leu226Met)
c.473-11253T>A (n.473-11253T>A)
c.541T>A (p.Leu181Met)
n.990T>A
3g.43576981G>ACA433573465ANO10c.873C>T (p.Val291=)
c.593-2117C>T (n.593-2117C>T)
c.675C>T (p.Val225=)
c.473-11254C>T (n.473-11254C>T)
c.540C>T (p.Val180=)
n.989C>T
3g.43576981G>CCA433573467ANO10c.873C>G (p.Val291=)
c.593-2117C>G (n.593-2117C>G)
c.675C>G (p.Val225=)
c.473-11254C>G (n.473-11254C>G)
c.540C>G (p.Val180=)
n.989C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.43576981G=CA1360853162ANO10c.873C= (p.Val291=)
c.593-2117C= (n.593-2117C=)
c.675C= (p.Val225=)
c.473-11254C= (n.473-11254C=)
c.540C= (p.Val180=)
n.989C=
3g.43576981G>TCA433573468ANO10c.873C>A (p.Val291=)
c.593-2117C>A (n.593-2117C>A)
c.675C>A (p.Val225=)
c.473-11254C>A (n.473-11254C>A)
c.540C>A (p.Val180=)
n.989C>A
3g.43576982A>CCA352343771ANO10c.872T>G (p.Val291Gly)
c.593-2118T>G (n.593-2118T>G)
c.674T>G (p.Val225Gly)
c.473-11255T>G (n.473-11255T>G)
c.539T>G (p.Val180Gly)
n.988T>G
3g.43576982A>GCA352343772ANO10c.872T>C (p.Val291Ala)
c.593-2118T>C (n.593-2118T>C)
c.674T>C (p.Val225Ala)
c.473-11255T>C (n.473-11255T>C)
c.539T>C (p.Val180Ala)
n.988T>C
3g.43576982A>TCA352343773ANO10c.872T>A (p.Val291Asp)
c.593-2118T>A (n.593-2118T>A)
c.674T>A (p.Val225Asp)
c.473-11255T>A (n.473-11255T>A)
c.539T>A (p.Val180Asp)
n.988T>A
3g.43576983C>ACA352343774ANO10c.871G>T (p.Val291Phe)
c.593-2119G>T (n.593-2119G>T)
c.673G>T (p.Val225Phe)
c.473-11256G>T (n.473-11256G>T)
c.538G>T (p.Val180Phe)
n.987G>T
3g.43576983C>GCA352343776ANO10c.871G>C (p.Val291Leu)
c.593-2119G>C (n.593-2119G>C)
c.673G>C (p.Val225Leu)
c.473-11256G>C (n.473-11256G>C)
c.538G>C (p.Val180Leu)
n.987G>C
3g.43576983C>TCA352343775ANO10c.871G>A (p.Val291Ile)
c.593-2119G>A (n.593-2119G>A)
c.673G>A (p.Val225Ile)
c.473-11256G>A (n.473-11256G>A)
c.538G>A (p.Val180Ile)
n.987G>A
3g.43576984A>CCA433573476ANO10c.870T>G (p.Gly290=)
c.593-2120T>G (n.593-2120T>G)
c.672T>G (p.Gly224=)
c.473-11257T>G (n.473-11257T>G)
c.537T>G (p.Gly179=)
n.986T>G
3g.43576984A>GCA433573478ANO10c.870T>C (p.Gly290=)
c.593-2120T>C (n.593-2120T>C)
c.672T>C (p.Gly224=)
c.473-11257T>C (n.473-11257T>C)
c.537T>C (p.Gly179=)
n.986T>C
3g.43576984A>TCA433573479ANO10c.870T>A (p.Gly290=)
c.593-2120T>A (n.593-2120T>A)
c.672T>A (p.Gly224=)
c.473-11257T>A (n.473-11257T>A)
c.537T>A (p.Gly179=)
n.986T>A
3g.43576985C>ACA352343777ANO10c.869G>T (p.Gly290Val)
c.593-2121G>T (n.593-2121G>T)
c.671G>T (p.Gly224Val)
c.473-11258G>T (n.473-11258G>T)
c.536G>T (p.Gly179Val)
n.985G>T
3g.43576985C>GCA352343778ANO10c.869G>C (p.Gly290Ala)
c.593-2121G>C (n.593-2121G>C)
c.671G>C (p.Gly224Ala)
c.473-11258G>C (n.473-11258G>C)
c.536G>C (p.Gly179Ala)
n.985G>C
3g.43576985C>TCA352343779ANO10c.869G>A (p.Gly290Asp)
c.593-2121G>A (n.593-2121G>A)
c.671G>A (p.Gly224Asp)
c.473-11258G>A (n.473-11258G>A)
c.536G>A (p.Gly179Asp)
n.985G>A
 gnomAD v4
3g.43576986C>ACA352343780ANO10c.868G>T (p.Gly290Cys)
c.593-2122G>T (n.593-2122G>T)
c.670G>T (p.Gly224Cys)
c.473-11259G>T (n.473-11259G>T)
c.535G>T (p.Gly179Cys)
n.984G>T
3g.43576986C>GCA352343781ANO10c.868G>C (p.Gly290Arg)
c.593-2122G>C (n.593-2122G>C)
c.670G>C (p.Gly224Arg)
c.473-11259G>C (n.473-11259G>C)
c.535G>C (p.Gly179Arg)
n.984G>C
3g.43576986C>TCA352343782ANO10c.868G>A (p.Gly290Ser)
c.593-2122G>A (n.593-2122G>A)
c.670G>A (p.Gly224Ser)
c.473-11259G>A (n.473-11259G>A)
c.535G>A (p.Gly179Ser)
n.984G>A
3g.43576987A=CA1360853163ANO10c.867T= (p.His289=)
c.593-2123T= (n.593-2123T=)
c.669T= (p.His223=)
c.473-11260T= (n.473-11260T=)
c.534T= (p.His178=)
n.983T=
3g.43576987A>CCA352343783ANO10c.867T>G (p.His289Gln)
c.593-2123T>G (n.593-2123T>G)
c.669T>G (p.His223Gln)
c.473-11260T>G (n.473-11260T>G)
c.534T>G (p.His178Gln)
n.983T>G
3g.43576987A>GCA433573484ANO10c.867T>C (p.His289=)
c.593-2123T>C (n.593-2123T>C)
c.669T>C (p.His223=)
c.473-11260T>C (n.473-11260T>C)
c.534T>C (p.His178=)
n.983T>C
 dbSNP gnomAD v2
3g.43576987A>TCA352343784ANO10c.867T>A (p.His289Gln)
c.593-2123T>A (n.593-2123T>A)
c.669T>A (p.His223Gln)
c.473-11260T>A (n.473-11260T>A)
c.534T>A (p.His178Gln)
n.983T>A
3g.43576988T>ACA352343785ANO10c.866A>T (p.His289Leu)
c.593-2124A>T (n.593-2124A>T)
c.668A>T (p.His223Leu)
c.473-11261A>T (n.473-11261A>T)
c.533A>T (p.His178Leu)
n.982A>T
 dbSNP gnomAD v2
3g.43576988T>CCA2340929ANO10c.866A>G (p.His289Arg)
c.593-2124A>G (n.593-2124A>G)
c.668A>G (p.His223Arg)
c.473-11261A>G (n.473-11261A>G)
c.533A>G (p.His178Arg)
n.982A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43576988T>GCA352343786ANO10c.866A>C (p.His289Pro)
c.593-2124A>C (n.593-2124A>C)
c.668A>C (p.His223Pro)
c.473-11261A>C (n.473-11261A>C)
c.533A>C (p.His178Pro)
n.982A>C
 gnomAD v4
3g.43576988T=CA1360853164ANO10c.866A= (p.His289=)
c.593-2124A= (n.593-2124A=)
c.668A= (p.His223=)
c.473-11261A= (n.473-11261A=)
c.533A= (p.His178=)
n.982A=
3g.43576989G>ACA352343788ANO10c.865C>T (p.His289Tyr)
c.593-2125C>T (n.593-2125C>T)
c.667C>T (p.His223Tyr)
c.473-11262C>T (n.473-11262C>T)
c.532C>T (p.His178Tyr)
n.981C>T
3g.43576989G>CCA352343789ANO10c.865C>G (p.His289Asp)
c.593-2125C>G (n.593-2125C>G)
c.667C>G (p.His223Asp)
c.473-11262C>G (n.473-11262C>G)
c.532C>G (p.His178Asp)
n.981C>G
3g.43576989G>TCA352343787ANO10c.865C>A (p.His289Asn)
c.593-2125C>A (n.593-2125C>A)
c.667C>A (p.His223Asn)
c.473-11262C>A (n.473-11262C>A)
c.532C>A (p.His178Asn)
n.981C>A
3g.43576990A>CCA352343791ANO10c.864T>G (p.Phe288Leu)
c.593-2126T>G (n.593-2126T>G)
c.666T>G (p.Phe222Leu)
c.473-11263T>G (n.473-11263T>G)
c.531T>G (p.Phe177Leu)
n.980T>G
3g.43576990A>GCA433573498ANO10c.864T>C (p.Phe288=)
c.593-2126T>C (n.593-2126T>C)
c.666T>C (p.Phe222=)
c.473-11263T>C (n.473-11263T>C)
c.531T>C (p.Phe177=)
n.980T>C
3g.43576990A>TCA352343790ANO10c.864T>A (p.Phe288Leu)
c.593-2126T>A (n.593-2126T>A)
c.666T>A (p.Phe222Leu)
c.473-11263T>A (n.473-11263T>A)
c.531T>A (p.Phe177Leu)
n.980T>A
3g.43576991A>CCA352343792ANO10c.863T>G (p.Phe288Cys)
c.593-2127T>G (n.593-2127T>G)
c.665T>G (p.Phe222Cys)
c.473-11264T>G (n.473-11264T>G)
c.530T>G (p.Phe177Cys)
n.979T>G
3g.43576991A>GCA352343793ANO10c.863T>C (p.Phe288Ser)
c.593-2127T>C (n.593-2127T>C)
c.665T>C (p.Phe222Ser)
c.473-11264T>C (n.473-11264T>C)
c.530T>C (p.Phe177Ser)
n.979T>C
3g.43576991A>TCA352343794ANO10c.863T>A (p.Phe288Tyr)
c.593-2127T>A (n.593-2127T>A)
c.665T>A (p.Phe222Tyr)
c.473-11264T>A (n.473-11264T>A)
c.530T>A (p.Phe177Tyr)
n.979T>A
3g.43576992A>CCA352343795ANO10c.862T>G (p.Phe288Val)
c.593-2128T>G (n.593-2128T>G)
c.664T>G (p.Phe222Val)
c.473-11265T>G (n.473-11265T>G)
c.529T>G (p.Phe177Val)
n.978T>G
3g.43576992A>GCA352343796ANO10c.862T>C (p.Phe288Leu)
c.593-2128T>C (n.593-2128T>C)
c.664T>C (p.Phe222Leu)
c.473-11265T>C (n.473-11265T>C)
c.529T>C (p.Phe177Leu)
n.978T>C
3g.43576992A>TCA352343797ANO10c.862T>A (p.Phe288Ile)
c.593-2128T>A (n.593-2128T>A)
c.664T>A (p.Phe222Ile)
c.473-11265T>A (n.473-11265T>A)
c.529T>A (p.Phe177Ile)
n.978T>A
3g.43576993T>ACA433573509ANO10c.861A>T (p.Gly287=)
c.593-2129A>T (n.593-2129A>T)
c.663A>T (p.Gly221=)
c.473-11266A>T (n.473-11266A>T)
c.528A>T (p.Gly176=)
n.977A>T
3g.43576993T>CCA433573507ANO10c.861A>G (p.Gly287=)
c.593-2129A>G (n.593-2129A>G)
c.663A>G (p.Gly221=)
c.473-11266A>G (n.473-11266A>G)
c.528A>G (p.Gly176=)
n.977A>G
3g.43576993T>GCA433573505ANO10c.861A>C (p.Gly287=)
c.593-2129A>C (n.593-2129A>C)
c.663A>C (p.Gly221=)
c.473-11266A>C (n.473-11266A>C)
c.528A>C (p.Gly176=)
n.977A>C
3g.43576994C>ACA74378017ANO10c.860G>T (p.Gly287Val)
c.593-2130G>T (n.593-2130G>T)
c.662G>T (p.Gly221Val)
c.473-11267G>T (n.473-11267G>T)
c.527G>T (p.Gly176Val)
n.976G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.43576994C=CA1360853165ANO10c.860G= (p.Gly287=)
c.593-2130G= (n.593-2130G=)
c.662G= (p.Gly221=)
c.473-11267G= (n.473-11267G=)
c.527G= (p.Gly176=)
n.976G=
3g.43576994C>GCA352343798ANO10c.860G>C (p.Gly287Ala)
c.593-2130G>C (n.593-2130G>C)
c.662G>C (p.Gly221Ala)
c.473-11267G>C (n.473-11267G>C)
c.527G>C (p.Gly176Ala)
n.976G>C
3g.43576994C>TCA352343799ANO10c.860G>A (p.Gly287Glu)
c.593-2130G>A (n.593-2130G>A)
c.662G>A (p.Gly221Glu)
c.473-11267G>A (n.473-11267G>A)
c.527G>A (p.Gly176Glu)
n.976G>A
 COSMIC
3g.43576995C>ACA352343800ANO10c.859G>T (p.Gly287Ter)
c.593-2131G>T (n.593-2131G>T)
c.661G>T (p.Gly221Ter)
c.473-11268G>T (n.473-11268G>T)
c.526G>T (p.Gly176Ter)
n.975G>T
3g.43576995C=CA1360853166ANO10c.859G= (p.Gly287=)
c.593-2131G= (n.593-2131G=)
c.661G= (p.Gly221=)
c.473-11268G= (n.473-11268G=)
c.526G= (p.Gly176=)
n.975G=
3g.43576995C>GCA352343801ANO10c.859G>C (p.Gly287Arg)
c.593-2131G>C (n.593-2131G>C)
c.661G>C (p.Gly221Arg)
c.473-11268G>C (n.473-11268G>C)
c.526G>C (p.Gly176Arg)
n.975G>C
3g.43576995C>TCA352343802ANO10c.859G>A (p.Gly287Arg)
c.593-2131G>A (n.593-2131G>A)
c.661G>A (p.Gly221Arg)
c.473-11268G>A (n.473-11268G>A)
c.526G>A (p.Gly176Arg)
n.975G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.43576996T>ACA433573516ANO10c.858A>T (p.Pro286=)
c.593-2132A>T (n.593-2132A>T)
c.660A>T (p.Pro220=)
c.473-11269A>T (n.473-11269A>T)
c.525A>T (p.Pro175=)
n.974A>T
3g.43576996T>CCA433573517ANO10c.858A>G (p.Pro286=)
c.593-2132A>G (n.593-2132A>G)
c.660A>G (p.Pro220=)
c.473-11269A>G (n.473-11269A>G)
c.525A>G (p.Pro175=)
n.974A>G
 dbSNP
3g.43576996T>GCA433573519ANO10c.858A>C (p.Pro286=)
c.593-2132A>C (n.593-2132A>C)
c.660A>C (p.Pro220=)
c.473-11269A>C (n.473-11269A>C)
c.525A>C (p.Pro175=)
n.974A>C
3g.43576997G>ACA2340930ANO10c.857C>T (p.Pro286Leu)
c.593-2133C>T (n.593-2133C>T)
c.659C>T (p.Pro220Leu)
c.473-11270C>T (n.473-11270C>T)
c.524C>T (p.Pro175Leu)
n.973C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.43576997G>CCA352343804ANO10c.857C>G (p.Pro286Arg)
c.593-2133C>G (n.593-2133C>G)
c.659C>G (p.Pro220Arg)
c.473-11270C>G (n.473-11270C>G)
c.524C>G (p.Pro175Arg)
n.973C>G
3g.43576997G=CA1360853167ANO10c.857C= (p.Pro286=)
c.593-2133C= (n.593-2133C=)
c.659C= (p.Pro220=)
c.473-11270C= (n.473-11270C=)
c.524C= (p.Pro175=)
n.973C=
3g.43576997G>TCA352343803ANO10c.857C>A (p.Pro286Gln)
c.593-2133C>A (n.593-2133C>A)
c.659C>A (p.Pro220Gln)
c.473-11270C>A (n.473-11270C>A)
c.524C>A (p.Pro175Gln)
n.973C>A
3g.43576998G>ACA352343805ANO10c.856C>T (p.Pro286Ser)
c.593-2134C>T (n.593-2134C>T)
c.658C>T (p.Pro220Ser)
c.473-11271C>T (n.473-11271C>T)
c.523C>T (p.Pro175Ser)
n.972C>T
 dbSNP gnomAD v3 gnomAD v4
3g.43576998G>CCA352343806ANO10c.856C>G (p.Pro286Ala)
c.593-2134C>G (n.593-2134C>G)
c.658C>G (p.Pro220Ala)
c.473-11271C>G (n.473-11271C>G)
c.523C>G (p.Pro175Ala)
n.972C>G
3g.43576998G=CA1360853168ANO10c.856C= (p.Pro286=)
c.593-2134C= (n.593-2134C=)
c.658C= (p.Pro220=)
c.473-11271C= (n.473-11271C=)
c.523C= (p.Pro175=)
n.972C=
3g.43576998G>TCA352343807ANO10c.856C>A (p.Pro286Thr)
c.593-2134C>A (n.593-2134C>A)
c.658C>A (p.Pro220Thr)
c.473-11271C>A (n.473-11271C>A)
c.523C>A (p.Pro175Thr)
n.972C>A
3g.43576998_43576999delinsGCCA1360853169ANO10c.855_856delinsGC (p.Arg285=)
c.593-2135_593-2134delinsGC (n.593-2135_593-2134delinsGC)
c.657_658delinsGC (p.Arg219=)
c.473-11272_473-11271delinsGC (n.473-11272_473-11271delinsGC)
c.522_523delinsGC (p.Arg174=)
n.971_972delinsGC
3g.43576999C>ACA433573526ANO10c.855G>T (p.Arg285=)
c.593-2135G>T (n.593-2135G>T)
c.657G>T (p.Arg219=)
c.473-11272G>T (n.473-11272G>T)
c.522G>T (p.Arg174=)
n.971G>T
3g.43576999C=CA1360853170ANO10c.855G= (p.Arg285=)
c.593-2135G= (n.593-2135G=)
c.657G= (p.Arg219=)
c.473-11272G= (n.473-11272G=)
c.522G= (p.Arg174=)
n.971G=
3g.43576999C>GCA433573529ANO10c.855G>C (p.Arg285=)
c.593-2135G>C (n.593-2135G>C)
c.657G>C (p.Arg219=)
c.473-11272G>C (n.473-11272G>C)
c.522G>C (p.Arg174=)
n.971G>C
3g.43576999C>TCA2340932ANO10c.855G>A (p.Arg285=)
c.593-2135G>A (n.593-2135G>A)
c.657G>A (p.Arg219=)
c.473-11272G>A (n.473-11272G>A)
c.522G>A (p.Arg174=)
n.971G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577000delCA2340931ANO10c.855del (p.Pro286GlnfsTer?)
c.593-2135del (n.593-2135del)
c.657del (p.Pro220GlnfsTer?)
c.473-11272del (n.473-11272del)
c.522del (p.Pro175GlnfsTer?)
n.971del
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577000C>ACA352343808ANO10c.854G>T (p.Arg285Leu)
c.593-2136G>T (n.593-2136G>T)
c.656G>T (p.Arg219Leu)
c.473-11273G>T (n.473-11273G>T)
c.521G>T (p.Arg174Leu)
n.970G>T
3g.43577000C=CA1360853171ANO10c.854G= (p.Arg285=)
c.593-2136G= (n.593-2136G=)
c.656G= (p.Arg219=)
c.473-11273G= (n.473-11273G=)
c.521G= (p.Arg174=)
n.970G=
3g.43577000C>GCA352343809ANO10c.854G>C (p.Arg285Pro)
c.593-2136G>C (n.593-2136G>C)
c.656G>C (p.Arg219Pro)
c.473-11273G>C (n.473-11273G>C)
c.521G>C (p.Arg174Pro)
n.970G>C
 COSMIC
3g.43577000C>TCA74378018ANO10c.854G>A (p.Arg285Gln)
c.593-2136G>A (n.593-2136G>A)
c.656G>A (p.Arg219Gln)
c.473-11273G>A (n.473-11273G>A)
c.521G>A (p.Arg174Gln)
n.970G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.43577001G>ACA2340933ANO10c.853C>T (p.Arg285Trp)
c.593-2137C>T (n.593-2137C>T)
c.655C>T (p.Arg219Trp)
c.473-11274C>T (n.473-11274C>T)
c.520C>T (p.Arg174Trp)
n.969C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577001G>CCA352343810ANO10c.853C>G (p.Arg285Gly)
c.593-2137C>G (n.593-2137C>G)
c.655C>G (p.Arg219Gly)
c.473-11274C>G (n.473-11274C>G)
c.520C>G (p.Arg174Gly)
n.969C>G
3g.43577001G=CA1360853172ANO10c.853C= (p.Arg285=)
c.593-2137C= (n.593-2137C=)
c.655C= (p.Arg219=)
c.473-11274C= (n.473-11274C=)
c.520C= (p.Arg174=)
n.969C=
3g.43577001G>TCA433573538ANO10c.853C>A (p.Arg285=)
c.593-2137C>A (n.593-2137C>A)
c.655C>A (p.Arg219=)
c.473-11274C>A (n.473-11274C>A)
c.520C>A (p.Arg174=)
n.969C>A
3g.43577002G>ACA433573545ANO10c.852C>T (p.Pro284=)
c.593-2138C>T (n.593-2138C>T)
c.654C>T (p.Pro218=)
c.473-11275C>T (n.473-11275C>T)
c.519C>T (p.Pro173=)
n.968C>T
 COSMIC
3g.43577002G>CCA433573542ANO10c.852C>G (p.Pro284=)
c.593-2138C>G (n.593-2138C>G)
c.654C>G (p.Pro218=)
c.473-11275C>G (n.473-11275C>G)
c.519C>G (p.Pro173=)
n.968C>G
3g.43577002G>TCA433573544ANO10c.852C>A (p.Pro284=)
c.593-2138C>A (n.593-2138C>A)
c.654C>A (p.Pro218=)
c.473-11275C>A (n.473-11275C>A)
c.519C>A (p.Pro173=)
n.968C>A
3g.43577003G>ACA352343811ANO10c.851C>T (p.Pro284Leu)
c.593-2139C>T (n.593-2139C>T)
c.653C>T (p.Pro218Leu)
c.473-11276C>T (n.473-11276C>T)
c.518C>T (p.Pro173Leu)
n.967C>T
 gnomAD v4
3g.43577003G>CCA352343812ANO10c.851C>G (p.Pro284Arg)
c.593-2139C>G (n.593-2139C>G)
c.653C>G (p.Pro218Arg)
c.473-11276C>G (n.473-11276C>G)
c.518C>G (p.Pro173Arg)
n.967C>G
3g.43577003G>TCA352343813ANO10c.851C>A (p.Pro284His)
c.593-2139C>A (n.593-2139C>A)
c.653C>A (p.Pro218His)
c.473-11276C>A (n.473-11276C>A)
c.518C>A (p.Pro173His)
n.967C>A
3g.43577004G>ACA352343814ANO10c.850C>T (p.Pro284Ser)
c.593-2140C>T (n.593-2140C>T)
c.652C>T (p.Pro218Ser)
c.473-11277C>T (n.473-11277C>T)
c.517C>T (p.Pro173Ser)
n.966C>T
 gnomAD v4
3g.43577004G>CCA352343815ANO10c.850C>G (p.Pro284Ala)
c.593-2140C>G (n.593-2140C>G)
c.652C>G (p.Pro218Ala)
c.473-11277C>G (n.473-11277C>G)
c.517C>G (p.Pro173Ala)
n.966C>G
 dbSNP
3g.43577004G=CA1360853173ANO10c.850C= (p.Pro284=)
c.593-2140C= (n.593-2140C=)
c.652C= (p.Pro218=)
c.473-11277C= (n.473-11277C=)
c.517C= (p.Pro173=)
n.966C=
3g.43577004G>TCA2340934ANO10c.850C>A (p.Pro284Thr)
c.593-2140C>A (n.593-2140C>A)
c.652C>A (p.Pro218Thr)
c.473-11277C>A (n.473-11277C>A)
c.517C>A (p.Pro173Thr)
n.966C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577005C>ACA352343816ANO10c.849G>T (p.Glu283Asp)
c.593-2141G>T (n.593-2141G>T)
c.651G>T (p.Glu217Asp)
c.473-11278G>T (n.473-11278G>T)
c.516G>T (p.Glu172Asp)
n.965G>T
 gnomAD v4
3g.43577005C>GCA352343817ANO10c.849G>C (p.Glu283Asp)
c.593-2141G>C (n.593-2141G>C)
c.651G>C (p.Glu217Asp)
c.473-11278G>C (n.473-11278G>C)
c.516G>C (p.Glu172Asp)
n.965G>C
3g.43577005C>TCA433573552ANO10c.849G>A (p.Glu283=)
c.593-2141G>A (n.593-2141G>A)
c.651G>A (p.Glu217=)
c.473-11278G>A (n.473-11278G>A)
c.516G>A (p.Glu172=)
n.965G>A
3g.43577006T>ACA352343818ANO10c.848A>T (p.Glu283Val)
c.593-2142A>T (n.593-2142A>T)
c.650A>T (p.Glu217Val)
c.473-11279A>T (n.473-11279A>T)
c.515A>T (p.Glu172Val)
n.964A>T
3g.43577006T>CCA352343819ANO10c.848A>G (p.Glu283Gly)
c.593-2142A>G (n.593-2142A>G)
c.650A>G (p.Glu217Gly)
c.473-11279A>G (n.473-11279A>G)
c.515A>G (p.Glu172Gly)
n.964A>G
3g.43577006T>GCA352343820ANO10c.848A>C (p.Glu283Ala)
c.593-2142A>C (n.593-2142A>C)
c.650A>C (p.Glu217Ala)
c.473-11279A>C (n.473-11279A>C)
c.515A>C (p.Glu172Ala)
n.964A>C
3g.43577007C>ACA352343821ANO10c.847G>T (p.Glu283Ter)
c.593-2143G>T (n.593-2143G>T)
c.649G>T (p.Glu217Ter)
c.473-11280G>T (n.473-11280G>T)
c.514G>T (p.Glu172Ter)
n.963G>T
 gnomAD v4
3g.43577007C>GCA352343822ANO10c.847G>C (p.Glu283Gln)
c.593-2143G>C (n.593-2143G>C)
c.649G>C (p.Glu217Gln)
c.473-11280G>C (n.473-11280G>C)
c.514G>C (p.Glu172Gln)
n.963G>C
3g.43577007C>TCA352343823ANO10c.847G>A (p.Glu283Lys)
c.593-2143G>A (n.593-2143G>A)
c.649G>A (p.Glu217Lys)
c.473-11280G>A (n.473-11280G>A)
c.514G>A (p.Glu172Lys)
n.963G>A
 gnomAD v4
3g.43577008C>ACA352343824ANO10c.846G>T (p.Glu282Asp)
c.593-2144G>T (n.593-2144G>T)
c.648G>T (p.Glu216Asp)
c.473-11281G>T (n.473-11281G>T)
c.513G>T (p.Glu171Asp)
n.962G>T
3g.43577008C>GCA352343825ANO10c.846G>C (p.Glu282Asp)
c.593-2144G>C (n.593-2144G>C)
c.648G>C (p.Glu216Asp)
c.473-11281G>C (n.473-11281G>C)
c.513G>C (p.Glu171Asp)
n.962G>C
3g.43577008C>TCA433573569ANO10c.846G>A (p.Glu282=)
c.593-2144G>A (n.593-2144G>A)
c.648G>A (p.Glu216=)
c.473-11281G>A (n.473-11281G>A)
c.513G>A (p.Glu171=)
n.962G>A
3g.43577009T>ACA352343826ANO10c.845A>T (p.Glu282Val)
c.593-2145A>T (n.593-2145A>T)
c.647A>T (p.Glu216Val)
c.473-11282A>T (n.473-11282A>T)
c.512A>T (p.Glu171Val)
n.961A>T
3g.43577009T>CCA352343827ANO10c.845A>G (p.Glu282Gly)
c.593-2145A>G (n.593-2145A>G)
c.647A>G (p.Glu216Gly)
c.473-11282A>G (n.473-11282A>G)
c.512A>G (p.Glu171Gly)
n.961A>G
3g.43577009T>GCA352343828ANO10c.845A>C (p.Glu282Ala)
c.593-2145A>C (n.593-2145A>C)
c.647A>C (p.Glu216Ala)
c.473-11282A>C (n.473-11282A>C)
c.512A>C (p.Glu171Ala)
n.961A>C
3g.43577010C>ACA352343829ANO10c.844G>T (p.Glu282Ter)
c.593-2146G>T (n.593-2146G>T)
c.646G>T (p.Glu216Ter)
c.473-11283G>T (n.473-11283G>T)
c.511G>T (p.Glu171Ter)
n.960G>T
3g.43577010C>GCA352343831ANO10c.844G>C (p.Glu282Gln)
c.593-2146G>C (n.593-2146G>C)
c.646G>C (p.Glu216Gln)
c.473-11283G>C (n.473-11283G>C)
c.511G>C (p.Glu171Gln)
n.960G>C
3g.43577010C>TCA352343830ANO10c.844G>A (p.Glu282Lys)
c.593-2146G>A (n.593-2146G>A)
c.646G>A (p.Glu216Lys)
c.473-11283G>A (n.473-11283G>A)
c.511G>A (p.Glu171Lys)
n.960G>A
 COSMIC
3g.43577011A>CCA352343832ANO10c.843T>G (p.Phe281Leu)
c.593-2147T>G (n.593-2147T>G)
c.645T>G (p.Phe215Leu)
c.473-11284T>G (n.473-11284T>G)
c.510T>G (p.Phe170Leu)
n.959T>G
3g.43577011A>GCA433573577ANO10c.843T>C (p.Phe281=)
c.593-2147T>C (n.593-2147T>C)
c.645T>C (p.Phe215=)
c.473-11284T>C (n.473-11284T>C)
c.510T>C (p.Phe170=)
n.959T>C
3g.43577011A>TCA352343833ANO10c.843T>A (p.Phe281Leu)
c.593-2147T>A (n.593-2147T>A)
c.645T>A (p.Phe215Leu)
c.473-11284T>A (n.473-11284T>A)
c.510T>A (p.Phe170Leu)
n.959T>A
3g.43577012A=CA1360853174ANO10c.842T= (p.Phe281=)
c.593-2148T= (n.593-2148T=)
c.644T= (p.Phe215=)
c.473-11285T= (n.473-11285T=)
c.509T= (p.Phe170=)
n.958T=
3g.43577012A>CCA352343834ANO10c.842T>G (p.Phe281Cys)
c.593-2148T>G (n.593-2148T>G)
c.644T>G (p.Phe215Cys)
c.473-11285T>G (n.473-11285T>G)
c.509T>G (p.Phe170Cys)
n.958T>G
3g.43577012A>GCA2340935ANO10c.842T>C (p.Phe281Ser)
c.593-2148T>C (n.593-2148T>C)
c.644T>C (p.Phe215Ser)
c.473-11285T>C (n.473-11285T>C)
c.509T>C (p.Phe170Ser)
n.958T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577012A>TCA352343835ANO10c.842T>A (p.Phe281Tyr)
c.593-2148T>A (n.593-2148T>A)
c.644T>A (p.Phe215Tyr)
c.473-11285T>A (n.473-11285T>A)
c.509T>A (p.Phe170Tyr)
n.958T>A
 gnomAD v4
3g.43577013A>CCA352343836ANO10c.841T>G (p.Phe281Val)
c.593-2149T>G (n.593-2149T>G)
c.643T>G (p.Phe215Val)
c.473-11286T>G (n.473-11286T>G)
c.508T>G (p.Phe170Val)
n.957T>G
3g.43577013A>GCA352343837ANO10c.841T>C (p.Phe281Leu)
c.593-2149T>C (n.593-2149T>C)
c.643T>C (p.Phe215Leu)
c.473-11286T>C (n.473-11286T>C)
c.508T>C (p.Phe170Leu)
n.957T>C
3g.43577013A>TCA352343838ANO10c.841T>A (p.Phe281Ile)
c.593-2149T>A (n.593-2149T>A)
c.643T>A (p.Phe215Ile)
c.473-11286T>A (n.473-11286T>A)
c.508T>A (p.Phe170Ile)
n.957T>A
3g.43577014C>ACA352343839ANO10c.840G>T (p.Lys280Asn)
c.593-2150G>T (n.593-2150G>T)
c.642G>T (p.Lys214Asn)
c.473-11287G>T (n.473-11287G>T)
c.507G>T (p.Lys169Asn)
n.956G>T
3g.43577014C>GCA352343840ANO10c.840G>C (p.Lys280Asn)
c.593-2150G>C (n.593-2150G>C)
c.642G>C (p.Lys214Asn)
c.473-11287G>C (n.473-11287G>C)
c.507G>C (p.Lys169Asn)
n.956G>C
3g.43577014C>TCA433573589ANO10c.840G>A (p.Lys280=)
c.593-2150G>A (n.593-2150G>A)
c.642G>A (p.Lys214=)
c.473-11287G>A (n.473-11287G>A)
c.507G>A (p.Lys169=)
n.956G>A
3g.43577015T>ACA352343842ANO10c.839A>T (p.Lys280Met)
c.593-2151A>T (n.593-2151A>T)
c.641A>T (p.Lys214Met)
c.473-11288A>T (n.473-11288A>T)
c.506A>T (p.Lys169Met)
n.955A>T
3g.43577015T>CCA352343843ANO10c.839A>G (p.Lys280Arg)
c.593-2151A>G (n.593-2151A>G)
c.641A>G (p.Lys214Arg)
c.473-11288A>G (n.473-11288A>G)
c.506A>G (p.Lys169Arg)
n.955A>G
3g.43577015T>GCA352343841ANO10c.839A>C (p.Lys280Thr)
c.593-2151A>C (n.593-2151A>C)
c.641A>C (p.Lys214Thr)
c.473-11288A>C (n.473-11288A>C)
c.506A>C (p.Lys169Thr)
n.955A>C
3g.43577016T>ACA352343846ANO10c.838A>T (p.Lys280Ter)
c.593-2152A>T (n.593-2152A>T)
c.640A>T (p.Lys214Ter)
c.473-11289A>T (n.473-11289A>T)
c.505A>T (p.Lys169Ter)
n.954A>T
3g.43577016T>CCA352343844ANO10c.838A>G (p.Lys280Glu)
c.593-2152A>G (n.593-2152A>G)
c.640A>G (p.Lys214Glu)
c.473-11289A>G (n.473-11289A>G)
c.505A>G (p.Lys169Glu)
n.954A>G
3g.43577016T>GCA352343845ANO10c.838A>C (p.Lys280Gln)
c.593-2152A>C (n.593-2152A>C)
c.640A>C (p.Lys214Gln)
c.473-11289A>C (n.473-11289A>C)
c.505A>C (p.Lys169Gln)
n.954A>C
3g.43577017T>ACA2340936ANO10c.837A>T (p.Arg279Ser)
c.593-2153A>T (n.593-2153A>T)
c.639A>T (p.Arg213Ser)
c.473-11290A>T (n.473-11290A>T)
c.504A>T (p.Arg168Ser)
n.953A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577017T>CCA2340937ANO10c.837A>G (p.Arg279=)
c.593-2153A>G (n.593-2153A>G)
c.639A>G (p.Arg213=)
c.473-11290A>G (n.473-11290A>G)
c.504A>G (p.Arg168=)
n.953A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577017T>GCA352343847ANO10c.837A>C (p.Arg279Ser)
c.593-2153A>C (n.593-2153A>C)
c.639A>C (p.Arg213Ser)
c.473-11290A>C (n.473-11290A>C)
c.504A>C (p.Arg168Ser)
n.953A>C
3g.43577017T=CA1360853175ANO10c.837A= (p.Arg279=)
c.593-2153A= (n.593-2153A=)
c.639A= (p.Arg213=)
c.473-11290A= (n.473-11290A=)
c.504A= (p.Arg168=)
n.953A=
3g.43577018C>ACA352343848ANO10c.836G>T (p.Arg279Ile)
c.593-2154G>T (n.593-2154G>T)
c.638G>T (p.Arg213Ile)
c.473-11291G>T (n.473-11291G>T)
c.503G>T (p.Arg168Ile)
n.952G>T
3g.43577018C>GCA352343849ANO10c.836G>C (p.Arg279Thr)
c.593-2154G>C (n.593-2154G>C)
c.638G>C (p.Arg213Thr)
c.473-11291G>C (n.473-11291G>C)
c.503G>C (p.Arg168Thr)
n.952G>C
3g.43577018C>TCA352343850ANO10c.836G>A (p.Arg279Lys)
c.593-2154G>A (n.593-2154G>A)
c.638G>A (p.Arg213Lys)
c.473-11291G>A (n.473-11291G>A)
c.503G>A (p.Arg168Lys)
n.952G>A
3g.43577019T>ACA352343851ANO10c.835A>T (p.Arg279Ter)
c.593-2155A>T (n.593-2155A>T)
c.637A>T (p.Arg213Ter)
c.473-11292A>T (n.473-11292A>T)
c.502A>T (p.Arg168Ter)
n.951A>T
3g.43577019T>CCA2340938ANO10c.835A>G (p.Arg279Gly)
c.593-2155A>G (n.593-2155A>G)
c.637A>G (p.Arg213Gly)
c.473-11292A>G (n.473-11292A>G)
c.502A>G (p.Arg168Gly)
n.951A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577019T>GCA433573606ANO10c.835A>C (p.Arg279=)
c.593-2155A>C (n.593-2155A>C)
c.637A>C (p.Arg213=)
c.473-11292A>C (n.473-11292A>C)
c.502A>C (p.Arg168=)
n.951A>C
3g.43577019T=CA1360853176ANO10c.835A= (p.Arg279=)
c.593-2155A= (n.593-2155A=)
c.637A= (p.Arg213=)
c.473-11292A= (n.473-11292A=)
c.502A= (p.Arg168=)
n.951A=
3g.43577020C>ACA352343852ANO10c.834G>T (p.Lys278Asn)
c.593-2156G>T (n.593-2156G>T)
c.636G>T (p.Lys212Asn)
c.473-11293G>T (n.473-11293G>T)
c.501G>T (p.Lys167Asn)
n.950G>T
3g.43577020C>GCA352343853ANO10c.834G>C (p.Lys278Asn)
c.593-2156G>C (n.593-2156G>C)
c.636G>C (p.Lys212Asn)
c.473-11293G>C (n.473-11293G>C)
c.501G>C (p.Lys167Asn)
n.950G>C
3g.43577020C>TCA433573607ANO10c.834G>A (p.Lys278=)
c.593-2156G>A (n.593-2156G>A)
c.636G>A (p.Lys212=)
c.473-11293G>A (n.473-11293G>A)
c.501G>A (p.Lys167=)
n.950G>A
3g.43577021T>ACA2340940ANO10c.833A>T (p.Lys278Met)
c.593-2157A>T (n.593-2157A>T)
c.635A>T (p.Lys212Met)
c.473-11294A>T (n.473-11294A>T)
c.500A>T (p.Lys167Met)
n.949A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577021T>CCA2340939ANO10c.833A>G (p.Lys278Arg)
c.593-2157A>G (n.593-2157A>G)
c.635A>G (p.Lys212Arg)
c.473-11294A>G (n.473-11294A>G)
c.500A>G (p.Lys167Arg)
n.949A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577021T>GCA352343854ANO10c.833A>C (p.Lys278Thr)
c.593-2157A>C (n.593-2157A>C)
c.635A>C (p.Lys212Thr)
c.473-11294A>C (n.473-11294A>C)
c.500A>C (p.Lys167Thr)
n.949A>C
 gnomAD v4
3g.43577021T=CA1360853177ANO10c.833A= (p.Lys278=)
c.593-2157A= (n.593-2157A=)
c.635A= (p.Lys212=)
c.473-11294A= (n.473-11294A=)
c.500A= (p.Lys167=)
n.949A=
3g.43577022T>ACA352343855ANO10c.832A>T (p.Lys278Ter)
c.593-2158A>T (n.593-2158A>T)
c.634A>T (p.Lys212Ter)
c.473-11295A>T (n.473-11295A>T)
c.499A>T (p.Lys167Ter)
n.948A>T
3g.43577022T>CCA352343856ANO10c.832A>G (p.Lys278Glu)
c.593-2158A>G (n.593-2158A>G)
c.634A>G (p.Lys212Glu)
c.473-11295A>G (n.473-11295A>G)
c.499A>G (p.Lys167Glu)
n.948A>G
3g.43577022T>GCA352343857ANO10c.832A>C (p.Lys278Gln)
c.593-2158A>C (n.593-2158A>C)
c.634A>C (p.Lys212Gln)
c.473-11295A>C (n.473-11295A>C)
c.499A>C (p.Lys167Gln)
n.948A>C
3g.43577023C>ACA352343858ANO10c.831G>T (p.Met277Ile)
c.593-2159G>T (n.593-2159G>T)
c.633G>T (p.Met211Ile)
c.473-11296G>T (n.473-11296G>T)
c.498G>T (p.Met166Ile)
n.947G>T
3g.43577023C>GCA352343859ANO10c.831G>C (p.Met277Ile)
c.593-2159G>C (n.593-2159G>C)
c.633G>C (p.Met211Ile)
c.473-11296G>C (n.473-11296G>C)
c.498G>C (p.Met166Ile)
n.947G>C
3g.43577023C>TCA352343860ANO10c.831G>A (p.Met277Ile)
c.593-2159G>A (n.593-2159G>A)
c.633G>A (p.Met211Ile)
c.473-11296G>A (n.473-11296G>A)
c.498G>A (p.Met166Ile)
n.947G>A
 gnomAD v3 gnomAD v4
3g.43577024A>CCA352343861ANO10c.830T>G (p.Met277Arg)
c.593-2160T>G (n.593-2160T>G)
c.632T>G (p.Met211Arg)
c.473-11297T>G (n.473-11297T>G)
c.497T>G (p.Met166Arg)
n.946T>G
3g.43577024A>GCA352343863ANO10c.830T>C (p.Met277Thr)
c.593-2160T>C (n.593-2160T>C)
c.632T>C (p.Met211Thr)
c.473-11297T>C (n.473-11297T>C)
c.497T>C (p.Met166Thr)
n.946T>C
3g.43577024A>TCA352343862ANO10c.830T>A (p.Met277Lys)
c.593-2160T>A (n.593-2160T>A)
c.632T>A (p.Met211Lys)
c.473-11297T>A (n.473-11297T>A)
c.497T>A (p.Met166Lys)
n.946T>A
3g.43577024_43577025insGACA2665304690ANO10c.830_831insCT (p.Met277IlefsTer2)
c.593-2160_593-2159insCT (n.593-2160_593-2159insCT)
c.632_633insCT (p.Met211IlefsTer2)
c.473-11297_473-11296insCT (n.473-11297_473-11296insCT)
c.497_498insCT (p.Met166IlefsTer2)
n.946_947insCT
 gnomAD v4
3g.43577024_43577031delinsATGAGCAGCA1360853178ANO10c.823_830delinsCTGCTCAT (p.Leu275=)
c.593-2167_593-2160delinsCTGCTCAT (n.593-2167_593-2160delinsCTGCTCAT)
c.625_632delinsCTGCTCAT (p.Leu209=)
c.473-11304_473-11297delinsCTGCTCAT (n.473-11304_473-11297delinsCTGCTCAT)
c.490_497delinsCTGCTCAT (p.Leu164=)
n.939_946delinsCTGCTCAT
3g.43577025T>ACA352343864ANO10c.829A>T (p.Met277Leu)
c.593-2161A>T (n.593-2161A>T)
c.631A>T (p.Met211Leu)
c.473-11298A>T (n.473-11298A>T)
c.496A>T (p.Met166Leu)
n.945A>T
 dbSNP gnomAD v4
3g.43577025T>CCA352343865ANO10c.829A>G (p.Met277Val)
c.593-2161A>G (n.593-2161A>G)
c.631A>G (p.Met211Val)
c.473-11298A>G (n.473-11298A>G)
c.496A>G (p.Met166Val)
n.945A>G
 gnomAD v4
3g.43577025T>GCA352343866ANO10c.829A>C (p.Met277Leu)
c.593-2161A>C (n.593-2161A>C)
c.631A>C (p.Met211Leu)
c.473-11298A>C (n.473-11298A>C)
c.496A>C (p.Met166Leu)
n.945A>C
3g.43577027_43577033delCA1360853179ANO10c.823_829del (p.Leu275Ter)
c.593-2167_593-2161del (n.593-2167_593-2161del)
c.625_631del (p.Leu209Ter)
c.473-11304_473-11298del (n.473-11304_473-11298del)
c.490_496del (p.Leu164Ter)
n.939_945del
 dbSNP
3g.43577026G>ACA74378019ANO10c.828C>T (p.Leu276=)
c.593-2162C>T (n.593-2162C>T)
c.630C>T (p.Leu210=)
c.473-11299C>T (n.473-11299C>T)
c.495C>T (p.Leu165=)
n.944C>T
 dbSNP gnomAD v2 gnomAD v4
3g.43577026G>CCA433573613ANO10c.828C>G (p.Leu276=)
c.593-2162C>G (n.593-2162C>G)
c.630C>G (p.Leu210=)
c.473-11299C>G (n.473-11299C>G)
c.495C>G (p.Leu165=)
n.944C>G
3g.43577026G=CA1360853180ANO10c.828C= (p.Leu276=)
c.593-2162C= (n.593-2162C=)
c.630C= (p.Leu210=)
c.473-11299C= (n.473-11299C=)
c.495C= (p.Leu165=)
n.944C=
3g.43577026G>TCA433573612ANO10c.828C>A (p.Leu276=)
c.593-2162C>A (n.593-2162C>A)
c.630C>A (p.Leu210=)
c.473-11299C>A (n.473-11299C>A)
c.495C>A (p.Leu165=)
n.944C>A
 dbSNP
3g.43577027A>CCA352343869ANO10c.827T>G (p.Leu276Arg)
c.593-2163T>G (n.593-2163T>G)
c.629T>G (p.Leu210Arg)
c.473-11300T>G (n.473-11300T>G)
c.494T>G (p.Leu165Arg)
n.943T>G
3g.43577027A>GCA352343868ANO10c.827T>C (p.Leu276Pro)
c.593-2163T>C (n.593-2163T>C)
c.629T>C (p.Leu210Pro)
c.473-11300T>C (n.473-11300T>C)
c.494T>C (p.Leu165Pro)
n.943T>C
3g.43577027A>TCA352343867ANO10c.827T>A (p.Leu276His)
c.593-2163T>A (n.593-2163T>A)
c.629T>A (p.Leu210His)
c.473-11300T>A (n.473-11300T>A)
c.494T>A (p.Leu165His)
n.943T>A
3g.43577028G>ACA352343870ANO10c.826C>T (p.Leu276Phe)
c.593-2164C>T (n.593-2164C>T)
c.628C>T (p.Leu210Phe)
c.473-11301C>T (n.473-11301C>T)
c.493C>T (p.Leu165Phe)
n.942C>T
3g.43577028G>CCA352343871ANO10c.826C>G (p.Leu276Val)
c.593-2164C>G (n.593-2164C>G)
c.628C>G (p.Leu210Val)
c.473-11301C>G (n.473-11301C>G)
c.493C>G (p.Leu165Val)
n.942C>G
3g.43577028G>TCA352343872ANO10c.826C>A (p.Leu276Ile)
c.593-2164C>A (n.593-2164C>A)
c.628C>A (p.Leu210Ile)
c.473-11301C>A (n.473-11301C>A)
c.493C>A (p.Leu165Ile)
n.942C>A
3g.43577029C>ACA433573615ANO10c.825G>T (p.Leu275=)
c.593-2165G>T (n.593-2165G>T)
c.627G>T (p.Leu209=)
c.473-11302G>T (n.473-11302G>T)
c.492G>T (p.Leu164=)
n.941G>T
3g.43577029C>GCA433573616ANO10c.825G>C (p.Leu275=)
c.593-2165G>C (n.593-2165G>C)
c.627G>C (p.Leu209=)
c.473-11302G>C (n.473-11302G>C)
c.492G>C (p.Leu164=)
n.941G>C
3g.43577029C>TCA433573617ANO10c.825G>A (p.Leu275=)
c.593-2165G>A (n.593-2165G>A)
c.627G>A (p.Leu209=)
c.473-11302G>A (n.473-11302G>A)
c.492G>A (p.Leu164=)
n.941G>A
 COSMIC
3g.43577030A>CCA352343873ANO10c.824T>G (p.Leu275Arg)
c.593-2166T>G (n.593-2166T>G)
c.626T>G (p.Leu209Arg)
c.473-11303T>G (n.473-11303T>G)
c.491T>G (p.Leu164Arg)
n.940T>G
3g.43577030A>GCA352343874ANO10c.824T>C (p.Leu275Pro)
c.593-2166T>C (n.593-2166T>C)
c.626T>C (p.Leu209Pro)
c.473-11303T>C (n.473-11303T>C)
c.491T>C (p.Leu164Pro)
n.940T>C
3g.43577030A>TCA352343875ANO10c.824T>A (p.Leu275Gln)
c.593-2166T>A (n.593-2166T>A)
c.626T>A (p.Leu209Gln)
c.473-11303T>A (n.473-11303T>A)
c.491T>A (p.Leu164Gln)
n.940T>A
3g.43577031G>ACA433573619ANO10c.823C>T (p.Leu275=)
c.593-2167C>T (n.593-2167C>T)
c.625C>T (p.Leu209=)
c.473-11304C>T (n.473-11304C>T)
c.490C>T (p.Leu164=)
n.939C>T
3g.43577031G>CCA352343877ANO10c.823C>G (p.Leu275Val)
c.593-2167C>G (n.593-2167C>G)
c.625C>G (p.Leu209Val)
c.473-11304C>G (n.473-11304C>G)
c.490C>G (p.Leu164Val)
n.939C>G
 gnomAD v4
3g.43577031G>TCA352343876ANO10c.823C>A (p.Leu275Met)
c.593-2167C>A (n.593-2167C>A)
c.625C>A (p.Leu209Met)
c.473-11304C>A (n.473-11304C>A)
c.490C>A (p.Leu164Met)
n.939C>A
3g.43577032T>ACA433573620ANO10c.822A>T (p.Thr274=)
c.593-2168A>T (n.593-2168A>T)
c.624A>T (p.Thr208=)
c.473-11305A>T (n.473-11305A>T)
c.489A>T (p.Thr163=)
n.938A>T
3g.43577032T>CCA433573621ANO10c.822A>G (p.Thr274=)
c.593-2168A>G (n.593-2168A>G)
c.624A>G (p.Thr208=)
c.473-11305A>G (n.473-11305A>G)
c.489A>G (p.Thr163=)
n.938A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.43577032T>GCA433573622ANO10c.822A>C (p.Thr274=)
c.593-2168A>C (n.593-2168A>C)
c.624A>C (p.Thr208=)
c.473-11305A>C (n.473-11305A>C)
c.489A>C (p.Thr163=)
n.938A>C
3g.43577032T=CA1360853181ANO10c.822A= (p.Thr274=)
c.593-2168A= (n.593-2168A=)
c.624A= (p.Thr208=)
c.473-11305A= (n.473-11305A=)
c.489A= (p.Thr163=)
n.938A=
3g.43577033G>ACA352343878ANO10c.821C>T (p.Thr274Ile)
c.593-2169C>T (n.593-2169C>T)
c.623C>T (p.Thr208Ile)
c.473-11306C>T (n.473-11306C>T)
c.488C>T (p.Thr163Ile)
n.937C>T
3g.43577033G>CCA352343879ANO10c.821C>G (p.Thr274Arg)
c.593-2169C>G (n.593-2169C>G)
c.623C>G (p.Thr208Arg)
c.473-11306C>G (n.473-11306C>G)
c.488C>G (p.Thr163Arg)
n.937C>G
3g.43577033G>TCA352343880ANO10c.821C>A (p.Thr274Lys)
c.593-2169C>A (n.593-2169C>A)
c.623C>A (p.Thr208Lys)
c.473-11306C>A (n.473-11306C>A)
c.488C>A (p.Thr163Lys)
n.937C>A
3g.43577034T>ACA352343881ANO10c.820A>T (p.Thr274Ser)
c.593-2170A>T (n.593-2170A>T)
c.622A>T (p.Thr208Ser)
c.473-11307A>T (n.473-11307A>T)
c.487A>T (p.Thr163Ser)
n.936A>T
3g.43577034T>CCA352343882ANO10c.820A>G (p.Thr274Ala)
c.593-2170A>G (n.593-2170A>G)
c.622A>G (p.Thr208Ala)
c.473-11307A>G (n.473-11307A>G)
c.487A>G (p.Thr163Ala)
n.936A>G
3g.43577034T>GCA352343883ANO10c.820A>C (p.Thr274Pro)
c.593-2170A>C (n.593-2170A>C)
c.622A>C (p.Thr208Pro)
c.473-11307A>C (n.473-11307A>C)
c.487A>C (p.Thr163Pro)
n.936A>C
3g.43577035C>ACA433573633ANO10c.819G>T (p.Gly273=)
c.593-2171G>T (n.593-2171G>T)
c.621G>T (p.Gly207=)
c.473-11308G>T (n.473-11308G>T)
c.486G>T (p.Gly162=)
n.935G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.43577035C=CA1360853182ANO10c.819G= (p.Gly273=)
c.593-2171G= (n.593-2171G=)
c.621G= (p.Gly207=)
c.473-11308G= (n.473-11308G=)
c.486G= (p.Gly162=)
n.935G=
3g.43577035C>GCA433573630ANO10c.819G>C (p.Gly273=)
c.593-2171G>C (n.593-2171G>C)
c.621G>C (p.Gly207=)
c.473-11308G>C (n.473-11308G>C)
c.486G>C (p.Gly162=)
n.935G>C
3g.43577035C>TCA433573631ANO10c.819G>A (p.Gly273=)
c.593-2171G>A (n.593-2171G>A)
c.621G>A (p.Gly207=)
c.473-11308G>A (n.473-11308G>A)
c.486G>A (p.Gly162=)
n.935G>A
3g.43577038_43577039dupCA2739279908ANO10c.818_819dup (p.Thr274GlyfsTer5)
c.593-2172_593-2171dup (n.593-2172_593-2171dup)
c.620_621dup (p.Thr208GlyfsTer5)
c.473-11309_473-11308dup (n.473-11309_473-11308dup)
c.485_486dup (p.Thr163GlyfsTer5)
n.934_935dup
 ClinVar
3g.43577039delCA2665304691ANO10c.819del (p.Thr274HisfsTer4)
c.593-2171del (n.593-2171del)
c.621del (p.Thr208HisfsTer4)
c.473-11308del (n.473-11308del)
c.486del (p.Gly162=)
c.486del (p.Thr163HisfsTer4)
n.935del
 gnomAD v4
3g.43577036C>ACA352343884ANO10c.818G>T (p.Gly273Val)
c.593-2172G>T (n.593-2172G>T)
c.620G>T (p.Gly207Val)
c.473-11309G>T (n.473-11309G>T)
c.485G>T (p.Gly162Val)
n.934G>T
3g.43577036C>GCA352343886ANO10c.818G>C (p.Gly273Ala)
c.593-2172G>C (n.593-2172G>C)
c.620G>C (p.Gly207Ala)
c.473-11309G>C (n.473-11309G>C)
c.485G>C (p.Gly162Ala)
n.934G>C
3g.43577036C>TCA352343885ANO10c.818G>A (p.Gly273Glu)
c.593-2172G>A (n.593-2172G>A)
c.620G>A (p.Gly207Glu)
c.473-11309G>A (n.473-11309G>A)
c.485G>A (p.Gly162Glu)
n.934G>A
3g.43577037C>ACA352343887ANO10c.817G>T (p.Gly273Trp)
c.593-2173G>T (n.593-2173G>T)
c.619G>T (p.Gly207Trp)
c.473-11310G>T (n.473-11310G>T)
c.484G>T (p.Gly162Trp)
n.933G>T
3g.43577037C>GCA352343888ANO10c.817G>C (p.Gly273Arg)
c.593-2173G>C (n.593-2173G>C)
c.619G>C (p.Gly207Arg)
c.473-11310G>C (n.473-11310G>C)
c.484G>C (p.Gly162Arg)
n.933G>C
3g.43577037C>TCA352343889ANO10c.817G>A (p.Gly273Arg)
c.593-2173G>A (n.593-2173G>A)
c.619G>A (p.Gly207Arg)
c.473-11310G>A (n.473-11310G>A)
c.484G>A (p.Gly162Arg)
n.933G>A
3g.43577038C>ACA352343890ANO10c.816G>T (p.Trp272Cys)
c.593-2174G>T (n.593-2174G>T)
c.618G>T (p.Trp206Cys)
c.473-11311G>T (n.473-11311G>T)
c.483G>T (p.Trp161Cys)
n.932G>T
3g.43577038C>GCA352343891ANO10c.816G>C (p.Trp272Cys)
c.593-2174G>C (n.593-2174G>C)
c.618G>C (p.Trp206Cys)
c.473-11311G>C (n.473-11311G>C)
c.483G>C (p.Trp161Cys)
n.932G>C
3g.43577038C>TCA352343892ANO10c.816G>A (p.Trp272Ter)
c.593-2174G>A (n.593-2174G>A)
c.618G>A (p.Trp206Ter)
c.473-11311G>A (n.473-11311G>A)
c.483G>A (p.Trp161Ter)
n.932G>A
3g.43577039C>ACA352343893ANO10c.815G>T (p.Trp272Leu)
c.593-2175G>T (n.593-2175G>T)
c.617G>T (p.Trp206Leu)
c.473-11312G>T (n.473-11312G>T)
c.482G>T (p.Trp161Leu)
n.931G>T
3g.43577039C=CA1360853183ANO10c.815G= (p.Trp272=)
c.593-2175G= (n.593-2175G=)
c.617G= (p.Trp206=)
c.473-11312G= (n.473-11312G=)
c.482G= (p.Trp161=)
n.931G=
3g.43577039C>GCA2340941ANO10c.815G>C (p.Trp272Ser)
c.593-2175G>C (n.593-2175G>C)
c.617G>C (p.Trp206Ser)
c.473-11312G>C (n.473-11312G>C)
c.482G>C (p.Trp161Ser)
n.931G>C
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.43577039C>TCA352343894ANO10c.815G>A (p.Trp272Ter)
c.593-2175G>A (n.593-2175G>A)
c.617G>A (p.Trp206Ter)
c.473-11312G>A (n.473-11312G>A)
c.482G>A (p.Trp161Ter)
n.931G>A
3g.43577040A=CA1360853184ANO10c.814T= (p.Trp272=)
c.593-2176T= (n.593-2176T=)
c.616T= (p.Trp206=)
c.473-11313T= (n.473-11313T=)
c.481T= (p.Trp161=)
n.930T=
3g.43577040A>CCA352343895ANO10c.814T>G (p.Trp272Gly)
c.593-2176T>G (n.593-2176T>G)
c.616T>G (p.Trp206Gly)
c.473-11313T>G (n.473-11313T>G)
c.481T>G (p.Trp161Gly)
n.930T>G
 dbSNP
3g.43577040A>GCA352343896ANO10c.814T>C (p.Trp272Arg)
c.593-2176T>C (n.593-2176T>C)
c.616T>C (p.Trp206Arg)
c.473-11313T>C (n.473-11313T>C)
c.481T>C (p.Trp161Arg)
n.930T>C
3g.43577040A>TCA352343897ANO10c.814T>A (p.Trp272Arg)
c.593-2176T>A (n.593-2176T>A)
c.616T>A (p.Trp206Arg)
c.473-11313T>A (n.473-11313T>A)
c.481T>A (p.Trp161Arg)
n.930T>A
3g.43577041C>ACA352343899ANO10c.813G>T (p.Arg271Ser)
c.593-2177G>T (n.593-2177G>T)
c.615G>T (p.Arg205Ser)
c.473-11314G>T (n.473-11314G>T)
c.480G>T (p.Arg160Ser)
n.929G>T
3g.43577041C>GCA352343898ANO10c.813G>C (p.Arg271Ser)
c.593-2177G>C (n.593-2177G>C)
c.615G>C (p.Arg205Ser)
c.473-11314G>C (n.473-11314G>C)
c.480G>C (p.Arg160Ser)
n.929G>C
3g.43577041C>TCA433573652ANO10c.813G>A (p.Arg271=)
c.593-2177G>A (n.593-2177G>A)
c.615G>A (p.Arg205=)
c.473-11314G>A (n.473-11314G>A)
c.480G>A (p.Arg160=)
n.929G>A
3g.43577042C>ACA352343900ANO10c.812G>T (p.Arg271Met)
c.593-2178G>T (n.593-2178G>T)
c.614G>T (p.Arg205Met)
c.473-11315G>T (n.473-11315G>T)
c.479G>T (p.Arg160Met)
n.928G>T
3g.43577042C>GCA352343902ANO10c.812G>C (p.Arg271Thr)
c.593-2178G>C (n.593-2178G>C)
c.614G>C (p.Arg205Thr)
c.473-11315G>C (n.473-11315G>C)
c.479G>C (p.Arg160Thr)
n.928G>C
3g.43577042C>TCA352343901ANO10c.812G>A (p.Arg271Lys)
c.593-2178G>A (n.593-2178G>A)
c.614G>A (p.Arg205Lys)
c.473-11315G>A (n.473-11315G>A)
c.479G>A (p.Arg160Lys)
n.928G>A
3g.43577043T>ACA352343903ANO10c.811A>T (p.Arg271Trp)
c.593-2179A>T (n.593-2179A>T)
c.613A>T (p.Arg205Trp)
c.473-11316A>T (n.473-11316A>T)
c.478A>T (p.Arg160Trp)
n.927A>T
3g.43577043T>CCA352343904ANO10c.811A>G (p.Arg271Gly)
c.593-2179A>G (n.593-2179A>G)
c.613A>G (p.Arg205Gly)
c.473-11316A>G (n.473-11316A>G)
c.478A>G (p.Arg160Gly)
n.927A>G
3g.43577043T>GCA433573659ANO10c.811A>C (p.Arg271=)
c.593-2179A>C (n.593-2179A>C)
c.613A>C (p.Arg205=)
c.473-11316A>C (n.473-11316A>C)
c.478A>C (p.Arg160=)
n.927A>C
3g.43577044G>ACA433573662ANO10c.810C>T (p.Tyr270=)
c.593-2180C>T (n.593-2180C>T)
c.612C>T (p.Tyr204=)
c.473-11317C>T (n.473-11317C>T)
c.477C>T (p.Tyr159=)
n.926C>T
 dbSNP
3g.43577044G>CCA352343905ANO10c.810C>G (p.Tyr270Ter)
c.593-2180C>G (n.593-2180C>G)
c.612C>G (p.Tyr204Ter)
c.473-11317C>G (n.473-11317C>G)
c.477C>G (p.Tyr159Ter)
n.926C>G
 gnomAD v4
3g.43577044G=CA1360853185ANO10c.810C= (p.Tyr270=)
c.593-2180C= (n.593-2180C=)
c.612C= (p.Tyr204=)
c.473-11317C= (n.473-11317C=)
c.477C= (p.Tyr159=)
n.926C=
3g.43577044G>TCA352343906ANO10c.810C>A (p.Tyr270Ter)
c.593-2180C>A (n.593-2180C>A)
c.612C>A (p.Tyr204Ter)
c.473-11317C>A (n.473-11317C>A)
c.477C>A (p.Tyr159Ter)
n.926C>A
 COSMIC
3g.43577045T>ACA352343907ANO10c.809A>T (p.Tyr270Phe)
c.593-2181A>T (n.593-2181A>T)
c.611A>T (p.Tyr204Phe)
c.473-11318A>T (n.473-11318A>T)
c.476A>T (p.Tyr159Phe)
n.925A>T
3g.43577045T>CCA2340942ANO10c.809A>G (p.Tyr270Cys)
c.593-2181A>G (n.593-2181A>G)
c.611A>G (p.Tyr204Cys)
c.473-11318A>G (n.473-11318A>G)
c.476A>G (p.Tyr159Cys)
n.925A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.43577045T>GCA352343908ANO10c.809A>C (p.Tyr270Ser)
c.593-2181A>C (n.593-2181A>C)
c.611A>C (p.Tyr204Ser)
c.473-11318A>C (n.473-11318A>C)
c.476A>C (p.Tyr159Ser)
n.925A>C
3g.43577045T=CA1360853186ANO10c.809A= (p.Tyr270=)
c.593-2181A= (n.593-2181A=)
c.611A= (p.Tyr204=)
c.473-11318A= (n.473-11318A=)
c.476A= (p.Tyr159=)
n.925A=
3g.43577046A>CCA352343909ANO10c.808T>G (p.Tyr270Asp)
c.593-2182T>G (n.593-2182T>G)
c.610T>G (p.Tyr204Asp)
c.473-11319T>G (n.473-11319T>G)
c.475T>G (p.Tyr159Asp)
n.924T>G
3g.43577046A>GCA352343910ANO10c.808T>C (p.Tyr270His)
c.593-2182T>C (n.593-2182T>C)
c.610T>C (p.Tyr204His)
c.473-11319T>C (n.473-11319T>C)
c.475T>C (p.Tyr159His)
n.924T>C
3g.43577046A>TCA352343911ANO10c.808T>A (p.Tyr270Asn)
c.593-2182T>A (n.593-2182T>A)
c.610T>A (p.Tyr204Asn)
c.473-11319T>A (n.473-11319T>A)
c.475T>A (p.Tyr159Asn)
n.924T>A
3g.43577047G>ACA433573721ANO10c.807C>T (p.Thr269=)
c.593-2183C>T (n.593-2183C>T)
c.609C>T (p.Thr203=)
c.473-11320C>T (n.473-11320C>T)
c.474C>T (p.Thr158=)
n.923C>T
3g.43577047G>CCA433573725ANO10c.807C>G (p.Thr269=)
c.593-2183C>G (n.593-2183C>G)
c.609C>G (p.Thr203=)
c.473-11320C>G (n.473-11320C>G)
c.474C>G (p.Thr158=)
n.923C>G
3g.43577047G>TCA433573723ANO10c.807C>A (p.Thr269=)
c.593-2183C>A (n.593-2183C>A)
c.609C>A (p.Thr203=)
c.473-11320C>A (n.473-11320C>A)
c.474C>A (p.Thr158=)
n.923C>A
3g.43577048G>ACA352343912ANO10c.806C>T (p.Thr269Ile)
c.593-2184C>T (n.593-2184C>T)
c.608C>T (p.Thr203Ile)
c.473-11321C>T (n.473-11321C>T)
c.473C>T (p.Thr158Ile)
n.922C>T
3g.43577048G>CCA352343913ANO10c.806C>G (p.Thr269Ser)
c.593-2184C>G (n.593-2184C>G)
c.608C>G (p.Thr203Ser)
c.473-11321C>G (n.473-11321C>G)
c.473C>G (p.Thr158Ser)
n.922C>G
3g.43577048G>TCA352343914ANO10c.806C>A (p.Thr269Asn)
c.593-2184C>A (n.593-2184C>A)
c.608C>A (p.Thr203Asn)
c.473-11321C>A (n.473-11321C>A)
c.473C>A (p.Thr158Asn)
n.922C>A
3g.43577049T>ACA352343915ANO10c.805A>T (p.Thr269Ser)
c.593-2185A>T (n.593-2185A>T)
c.607A>T (p.Thr203Ser)
c.473-11322A>T (n.473-11322A>T)
c.472A>T (p.Thr158Ser)
n.921A>T
 dbSNP
3g.43577049T>CCA352343916ANO10c.805A>G (p.Thr269Ala)
c.593-2185A>G (n.593-2185A>G)
c.607A>G (p.Thr203Ala)
c.473-11322A>G (n.473-11322A>G)
c.472A>G (p.Thr158Ala)
n.921A>G
3g.43577049T>GCA352343917ANO10c.805A>C (p.Thr269Pro)
c.593-2185A>C (n.593-2185A>C)
c.607A>C (p.Thr203Pro)
c.473-11322A>C (n.473-11322A>C)
c.472A>C (p.Thr158Pro)
n.921A>C
 gnomAD v4
3g.43577049T=CA1360853187ANO10c.805A= (p.Thr269=)
c.593-2185A= (n.593-2185A=)
c.607A= (p.Thr203=)
c.473-11322A= (n.473-11322A=)
c.472A= (p.Thr158=)
n.921A=
3g.43577050C>ACA352343920ANO10c.804G>T (p.Met268Ile)
c.593-2186G>T (n.593-2186G>T)
c.606G>T (p.Met202Ile)
c.473-11323G>T (n.473-11323G>T)
c.471G>T (p.Met157Ile)
n.920G>T
 gnomAD v4
3g.43577050C>GCA352343918ANO10c.804G>C (p.Met268Ile)
c.593-2186G>C (n.593-2186G>C)
c.606G>C (p.Met202Ile)
c.473-11323G>C (n.473-11323G>C)
c.471G>C (p.Met157Ile)
n.920G>C
3g.43577050C>TCA352343919ANO10c.804G>A (p.Met268Ile)
c.593-2186G>A (n.593-2186G>A)
c.606G>A (p.Met202Ile)
c.473-11323G>A (n.473-11323G>A)
c.471G>A (p.Met157Ile)
n.920G>A
3g.43577051A>CCA352343921ANO10c.803T>G (p.Met268Arg)
c.593-2187T>G (n.593-2187T>G)
c.605T>G (p.Met202Arg)
c.473-11324T>G (n.473-11324T>G)
c.470T>G (p.Met157Arg)
n.919T>G
3g.43577051A>GCA352343922ANO10c.803T>C (p.Met268Thr)
c.593-2187T>C (n.593-2187T>C)
c.605T>C (p.Met202Thr)
c.473-11324T>C (n.473-11324T>C)
c.470T>C (p.Met157Thr)
n.919T>C
3g.43577051A>TCA352343923ANO10c.803T>A (p.Met268Lys)
c.593-2187T>A (n.593-2187T>A)
c.605T>A (p.Met202Lys)
c.473-11324T>A (n.473-11324T>A)
c.470T>A (p.Met157Lys)
n.919T>A
3g.43577052T>ACA352343924ANO10c.802A>T (p.Met268Leu)
c.593-2188A>T (n.593-2188A>T)
c.604A>T (p.Met202Leu)
c.473-11325A>T (n.473-11325A>T)
c.469A>T (p.Met157Leu)
n.918A>T
3g.43577052T>CCA2340943ANO10c.802A>G (p.Met268Val)
c.593-2188A>G (n.593-2188A>G)
c.604A>G (p.Met202Val)
c.473-11325A>G (n.473-11325A>G)
c.469A>G (p.Met157Val)
n.918A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577052T>GCA352343925ANO10c.802A>C (p.Met268Leu)
c.593-2188A>C (n.593-2188A>C)
c.604A>C (p.Met202Leu)
c.473-11325A>C (n.473-11325A>C)
c.469A>C (p.Met157Leu)
n.918A>C
3g.43577052T=CA1360853188ANO10c.802A= (p.Met268=)
c.593-2188A= (n.593-2188A=)
c.604A= (p.Met202=)
c.473-11325A= (n.473-11325A=)
c.469A= (p.Met157=)
n.918A=
3g.43577053G>ACA433573738ANO10c.801C>T (p.Asn267=)
c.593-2189C>T (n.593-2189C>T)
c.603C>T (p.Asn201=)
c.473-11326C>T (n.473-11326C>T)
c.468C>T (p.Asn156=)
n.917C>T
 gnomAD v4
3g.43577053G>CCA352343926ANO10c.801C>G (p.Asn267Lys)
c.593-2189C>G (n.593-2189C>G)
c.603C>G (p.Asn201Lys)
c.473-11326C>G (n.473-11326C>G)
c.468C>G (p.Asn156Lys)
n.917C>G
3g.43577053G>TCA352343927ANO10c.801C>A (p.Asn267Lys)
c.593-2189C>A (n.593-2189C>A)
c.603C>A (p.Asn201Lys)
c.473-11326C>A (n.473-11326C>A)
c.468C>A (p.Asn156Lys)
n.917C>A
3g.43577054T>ACA352343928ANO10c.800A>T (p.Asn267Ile)
c.593-2190A>T (n.593-2190A>T)
c.602A>T (p.Asn201Ile)
c.473-11327A>T (n.473-11327A>T)
c.467A>T (p.Asn156Ile)
n.916A>T
3g.43577054T>CCA352343929ANO10c.800A>G (p.Asn267Ser)
c.593-2190A>G (n.593-2190A>G)
c.602A>G (p.Asn201Ser)
c.473-11327A>G (n.473-11327A>G)
c.467A>G (p.Asn156Ser)
n.916A>G
3g.43577054T>GCA352343930ANO10c.800A>C (p.Asn267Thr)
c.593-2190A>C (n.593-2190A>C)
c.602A>C (p.Asn201Thr)
c.473-11327A>C (n.473-11327A>C)
c.467A>C (p.Asn156Thr)
n.916A>C
3g.43577055T>ACA352343932ANO10c.799A>T (p.Asn267Tyr)
c.593-2191A>T (n.593-2191A>T)
c.601A>T (p.Asn201Tyr)
c.473-11328A>T (n.473-11328A>T)
c.466A>T (p.Asn156Tyr)
n.915A>T
3g.43577055T>CCA2340944ANO10c.799A>G (p.Asn267Asp)
c.593-2191A>G (n.593-2191A>G)
c.601A>G (p.Asn201Asp)
c.473-11328A>G (n.473-11328A>G)
c.466A>G (p.Asn156Asp)
n.915A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577055T>GCA352343931ANO10c.799A>C (p.Asn267His)
c.593-2191A>C (n.593-2191A>C)
c.601A>C (p.Asn201His)
c.473-11328A>C (n.473-11328A>C)
c.466A>C (p.Asn156His)
n.915A>C
3g.43577055T=CA1360853189ANO10c.799A= (p.Asn267=)
c.593-2191A= (n.593-2191A=)
c.601A= (p.Asn201=)
c.473-11328A= (n.473-11328A=)
c.466A= (p.Asn156=)
n.915A=
3g.43577056G>ACA433573755ANO10c.798C>T (p.Ala266=)
c.593-2192C>T (n.593-2192C>T)
c.600C>T (p.Ala200=)
c.473-11329C>T (n.473-11329C>T)
c.465C>T (p.Ala155=)
n.914C>T
3g.43577056G>CCA433573751ANO10c.798C>G (p.Ala266=)
c.593-2192C>G (n.593-2192C>G)
c.600C>G (p.Ala200=)
c.473-11329C>G (n.473-11329C>G)
c.465C>G (p.Ala155=)
n.914C>G
3g.43577056G>TCA433573753ANO10c.798C>A (p.Ala266=)
c.593-2192C>A (n.593-2192C>A)
c.600C>A (p.Ala200=)
c.473-11329C>A (n.473-11329C>A)
c.465C>A (p.Ala155=)
n.914C>A
3g.43577057G>ACA352343933ANO10c.797C>T (p.Ala266Val)
c.593-2193C>T (n.593-2193C>T)
c.599C>T (p.Ala200Val)
c.473-11330C>T (n.473-11330C>T)
c.464C>T (p.Ala155Val)
n.913C>T
3g.43577057G>CCA352343934ANO10c.797C>G (p.Ala266Gly)
c.593-2193C>G (n.593-2193C>G)
c.599C>G (p.Ala200Gly)
c.473-11330C>G (n.473-11330C>G)
c.464C>G (p.Ala155Gly)
n.913C>G
3g.43577057G>TCA352343935ANO10c.797C>A (p.Ala266Asp)
c.593-2193C>A (n.593-2193C>A)
c.599C>A (p.Ala200Asp)
c.473-11330C>A (n.473-11330C>A)
c.464C>A (p.Ala155Asp)
n.913C>A
3g.43577058C>ACA352343936ANO10c.796G>T (p.Ala266Ser)
c.593-2194G>T (n.593-2194G>T)
c.598G>T (p.Ala200Ser)
c.473-11331G>T (n.473-11331G>T)
c.463G>T (p.Ala155Ser)
n.912G>T
3g.43577058C>GCA352343937ANO10c.796G>C (p.Ala266Pro)
c.593-2194G>C (n.593-2194G>C)
c.598G>C (p.Ala200Pro)
c.473-11331G>C (n.473-11331G>C)
c.463G>C (p.Ala155Pro)
n.912G>C
3g.43577058C>TCA352343938ANO10c.796G>A (p.Ala266Thr)
c.593-2194G>A (n.593-2194G>A)
c.598G>A (p.Ala200Thr)
c.473-11331G>A (n.473-11331G>A)
c.463G>A (p.Ala155Thr)
n.912G>A
3g.43577059A>CCA352343939ANO10c.795T>G (p.Cys265Trp)
c.593-2195T>G (n.593-2195T>G)
c.597T>G (p.Cys199Trp)
c.473-11332T>G (n.473-11332T>G)
c.462T>G (p.Cys154Trp)
n.911T>G
3g.43577059A>GCA433573763ANO10c.795T>C (p.Cys265=)
c.593-2195T>C (n.593-2195T>C)
c.597T>C (p.Cys199=)
c.473-11332T>C (n.473-11332T>C)
c.462T>C (p.Cys154=)
n.911T>C
3g.43577059A>TCA352343940ANO10c.795T>A (p.Cys265Ter)
c.593-2195T>A (n.593-2195T>A)
c.597T>A (p.Cys199Ter)
c.473-11332T>A (n.473-11332T>A)
c.462T>A (p.Cys154Ter)
n.911T>A
3g.43577060C>ACA352343941ANO10c.794G>T (p.Cys265Phe)
c.593-2196G>T (n.593-2196G>T)
c.596G>T (p.Cys199Phe)
c.473-11333G>T (n.473-11333G>T)
c.461G>T (p.Cys154Phe)
n.910G>T
3g.43577060C>GCA352343942ANO10c.794G>C (p.Cys265Ser)
c.593-2196G>C (n.593-2196G>C)
c.596G>C (p.Cys199Ser)
c.473-11333G>C (n.473-11333G>C)
c.461G>C (p.Cys154Ser)
n.910G>C
3g.43577060C>TCA352343943ANO10c.794G>A (p.Cys265Tyr)
c.593-2196G>A (n.593-2196G>A)
c.596G>A (p.Cys199Tyr)
c.473-11333G>A (n.473-11333G>A)
c.461G>A (p.Cys154Tyr)
n.910G>A
3g.43577061A>CCA352343946ANO10c.793T>G (p.Cys265Gly)
c.593-2197T>G (n.593-2197T>G)
c.595T>G (p.Cys199Gly)
c.473-11334T>G (n.473-11334T>G)
c.460T>G (p.Cys154Gly)
n.909T>G
3g.43577061A>GCA352343945ANO10c.793T>C (p.Cys265Arg)
c.593-2197T>C (n.593-2197T>C)
c.595T>C (p.Cys199Arg)
c.473-11334T>C (n.473-11334T>C)
c.460T>C (p.Cys154Arg)
n.909T>C
3g.43577061A>TCA352343944ANO10c.793T>A (p.Cys265Ser)
c.593-2197T>A (n.593-2197T>A)
c.595T>A (p.Cys199Ser)
c.473-11334T>A (n.473-11334T>A)
c.460T>A (p.Cys154Ser)
n.909T>A
 gnomAD v4
3g.43577062G>ACA2340945ANO10c.792C>T (p.Gly264=)
c.593-2198C>T (n.593-2198C>T)
c.594C>T (p.Gly198=)
c.473-11335C>T (n.473-11335C>T)
c.459C>T (p.Gly153=)
n.908C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577062G>CCA433573776ANO10c.792C>G (p.Gly264=)
c.593-2198C>G (n.593-2198C>G)
c.594C>G (p.Gly198=)
c.473-11335C>G (n.473-11335C>G)
c.459C>G (p.Gly153=)
n.908C>G
 dbSNP gnomAD v3 gnomAD v4
3g.43577062G=CA1360853190ANO10c.792C= (p.Gly264=)
c.593-2198C= (n.593-2198C=)
c.594C= (p.Gly198=)
c.473-11335C= (n.473-11335C=)
c.459C= (p.Gly153=)
n.908C=
3g.43577062G>TCA433573777ANO10c.792C>A (p.Gly264=)
c.593-2198C>A (n.593-2198C>A)
c.594C>A (p.Gly198=)
c.473-11335C>A (n.473-11335C>A)
c.459C>A (p.Gly153=)
n.908C>A
3g.43577063C>ACA352343947ANO10c.791G>T (p.Gly264Val)
c.593-2199G>T (n.593-2199G>T)
c.593G>T (p.Gly198Val)
c.473-11336G>T (n.473-11336G>T)
c.458G>T (p.Gly153Val)
n.907G>T
3g.43577063C>GCA352343948ANO10c.791G>C (p.Gly264Ala)
c.593-2199G>C (n.593-2199G>C)
c.593G>C (p.Gly198Ala)
c.473-11336G>C (n.473-11336G>C)
c.458G>C (p.Gly153Ala)
n.907G>C
3g.43577063C>TCA352343949ANO10c.791G>A (p.Gly264Asp)
c.593-2199G>A (n.593-2199G>A)
c.593G>A (p.Gly198Asp)
c.473-11336G>A (n.473-11336G>A)
c.458G>A (p.Gly153Asp)
n.907G>A
3g.43577064C>ACA352343950ANO10c.790G>T (p.Gly264Cys)
c.593-2200G>T (n.593-2200G>T)
c.592G>T (p.Gly198Cys)
c.473-11337G>T (n.473-11337G>T)
c.457G>T (p.Gly153Cys)
n.906G>T
3g.43577064C=CA1360853191ANO10c.790G= (p.Gly264=)
c.593-2200G= (n.593-2200G=)
c.592G= (p.Gly198=)
c.473-11337G= (n.473-11337G=)
c.457G= (p.Gly153=)
n.906G=
3g.43577064C>GCA352343951ANO10c.790G>C (p.Gly264Arg)
c.593-2200G>C (n.593-2200G>C)
c.592G>C (p.Gly198Arg)
c.473-11337G>C (n.473-11337G>C)
c.457G>C (p.Gly153Arg)
n.906G>C
3g.43577064C>TCA2340946ANO10c.790G>A (p.Gly264Ser)
c.593-2200G>A (n.593-2200G>A)
c.592G>A (p.Gly198Ser)
c.473-11337G>A (n.473-11337G>A)
c.457G>A (p.Gly153Ser)
n.906G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577065A=CA1360853192ANO10c.789T= (p.Arg263=)
c.593-2201T= (n.593-2201T=)
c.591T= (p.Arg197=)
c.473-11338T= (n.473-11338T=)
c.456T= (p.Arg152=)
n.905T=
3g.43577065A>CCA433573785ANO10c.789T>G (p.Arg263=)
c.593-2201T>G (n.593-2201T>G)
c.591T>G (p.Arg197=)
c.473-11338T>G (n.473-11338T>G)
c.456T>G (p.Arg152=)
n.905T>G
 dbSNP
3g.43577065A>GCA433573786ANO10c.789T>C (p.Arg263=)
c.593-2201T>C (n.593-2201T>C)
c.591T>C (p.Arg197=)
c.473-11338T>C (n.473-11338T>C)
c.456T>C (p.Arg152=)
n.905T>C
3g.43577065A>TCA433573788ANO10c.789T>A (p.Arg263=)
c.593-2201T>A (n.593-2201T>A)
c.591T>A (p.Arg197=)
c.473-11338T>A (n.473-11338T>A)
c.456T>A (p.Arg152=)
n.905T>A
3g.43577066C>ACA352343952ANO10c.788G>T (p.Arg263Leu)
c.593-2202G>T (n.593-2202G>T)
c.590G>T (p.Arg197Leu)
c.473-11339G>T (n.473-11339G>T)
c.455G>T (p.Arg152Leu)
n.904G>T
3g.43577066C=CA1360853193ANO10c.788G= (p.Arg263=)
c.593-2202G= (n.593-2202G=)
c.590G= (p.Arg197=)
c.473-11339G= (n.473-11339G=)
c.455G= (p.Arg152=)
n.904G=
3g.43577066C>GCA352343953ANO10c.788G>C (p.Arg263Pro)
c.593-2202G>C (n.593-2202G>C)
c.590G>C (p.Arg197Pro)
c.473-11339G>C (n.473-11339G>C)
c.455G>C (p.Arg152Pro)
n.904G>C
3g.43577066C>TCA2340947ANO10c.788G>A (p.Arg263His)
c.593-2202G>A (n.593-2202G>A)
c.590G>A (p.Arg197His)
c.473-11339G>A (n.473-11339G>A)
c.455G>A (p.Arg152His)
n.904G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577067G>ACA2340948ANO10c.787C>T (p.Arg263Cys)
c.593-2203C>T (n.593-2203C>T)
c.589C>T (p.Arg197Cys)
c.473-11340C>T (n.473-11340C>T)
c.454C>T (p.Arg152Cys)
n.903C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.43577067G>CCA352343954ANO10c.787C>G (p.Arg263Gly)
c.593-2203C>G (n.593-2203C>G)
c.589C>G (p.Arg197Gly)
c.473-11340C>G (n.473-11340C>G)
c.454C>G (p.Arg152Gly)
n.903C>G
3g.43577067G=CA1360853194ANO10c.787C= (p.Arg263=)
c.593-2203C= (n.593-2203C=)
c.589C= (p.Arg197=)
c.473-11340C= (n.473-11340C=)
c.454C= (p.Arg152=)
n.903C=
3g.43577067G>TCA2340949ANO10c.787C>A (p.Arg263Ser)
c.593-2203C>A (n.593-2203C>A)
c.589C>A (p.Arg197Ser)
c.473-11340C>A (n.473-11340C>A)
c.454C>A (p.Arg152Ser)
n.903C>A
 dbSNP ExAC
3g.43577068C>ACA352343956ANO10c.786G>T (p.Lys262Asn)
c.593-2204G>T (n.593-2204G>T)
c.588G>T (p.Lys196Asn)
c.473-11341G>T (n.473-11341G>T)
c.453G>T (p.Lys151Asn)
n.902G>T
 dbSNP gnomAD v2
3g.43577068C=CA1360853195ANO10c.786G= (p.Lys262=)
c.593-2204G= (n.593-2204G=)
c.588G= (p.Lys196=)
c.473-11341G= (n.473-11341G=)
c.453G= (p.Lys151=)
n.902G=
3g.43577068C>GCA352343955ANO10c.786G>C (p.Lys262Asn)
c.593-2204G>C (n.593-2204G>C)
c.588G>C (p.Lys196Asn)
c.473-11341G>C (n.473-11341G>C)
c.453G>C (p.Lys151Asn)
n.902G>C
3g.43577068C>TCA433573797ANO10c.786G>A (p.Lys262=)
c.593-2204G>A (n.593-2204G>A)
c.588G>A (p.Lys196=)
c.473-11341G>A (n.473-11341G>A)
c.453G>A (p.Lys151=)
n.902G>A
 ClinVar dbSNP gnomAD v4
3g.43577069T>ACA352343957ANO10c.785A>T (p.Lys262Met)
c.593-2205A>T (n.593-2205A>T)
c.587A>T (p.Lys196Met)
c.473-11342A>T (n.473-11342A>T)
c.452A>T (p.Lys151Met)
n.901A>T
 gnomAD v4
3g.43577069T>CCA352343959ANO10c.785A>G (p.Lys262Arg)
c.593-2205A>G (n.593-2205A>G)
c.587A>G (p.Lys196Arg)
c.473-11342A>G (n.473-11342A>G)
c.452A>G (p.Lys151Arg)
n.901A>G
3g.43577069T>GCA352343958ANO10c.785A>C (p.Lys262Thr)
c.593-2205A>C (n.593-2205A>C)
c.587A>C (p.Lys196Thr)
c.473-11342A>C (n.473-11342A>C)
c.452A>C (p.Lys151Thr)
n.901A>C
 dbSNP gnomAD v2 gnomAD v4
3g.43577069T=CA1360853196ANO10c.785A= (p.Lys262=)
c.593-2205A= (n.593-2205A=)
c.587A= (p.Lys196=)
c.473-11342A= (n.473-11342A=)
c.452A= (p.Lys151=)
n.901A=
3g.43577070T>ACA352343960ANO10c.784A>T (p.Lys262Ter)
c.593-2206A>T (n.593-2206A>T)
c.586A>T (p.Lys196Ter)
c.473-11343A>T (n.473-11343A>T)
c.451A>T (p.Lys151Ter)
n.900A>T
3g.43577070T>CCA352343961ANO10c.784A>G (p.Lys262Glu)
c.593-2206A>G (n.593-2206A>G)
c.586A>G (p.Lys196Glu)
c.473-11343A>G (n.473-11343A>G)
c.451A>G (p.Lys151Glu)
n.900A>G
3g.43577070T>GCA352343962ANO10c.784A>C (p.Lys262Gln)
c.593-2206A>C (n.593-2206A>C)
c.586A>C (p.Lys196Gln)
c.473-11343A>C (n.473-11343A>C)
c.451A>C (p.Lys151Gln)
n.900A>C
 dbSNP gnomAD v2 gnomAD v4
3g.43577070T=CA1360853197ANO10c.784A= (p.Lys262=)
c.593-2206A= (n.593-2206A=)
c.586A= (p.Lys196=)
c.473-11343A= (n.473-11343A=)
c.451A= (p.Lys151=)
n.900A=
3g.43577071C>ACA352343963ANO10c.783G>T (p.Trp261Cys)
c.593-2207G>T (n.593-2207G>T)
c.585G>T (p.Trp195Cys)
c.473-11344G>T (n.473-11344G>T)
c.450G>T (p.Trp150Cys)
n.899G>T
 gnomAD v4
3g.43577071C=CA1360853198ANO10c.783G= (p.Trp261=)
c.593-2207G= (n.593-2207G=)
c.585G= (p.Trp195=)
c.473-11344G= (n.473-11344G=)
c.450G= (p.Trp150=)
n.899G=
3g.43577071C>GCA352343964ANO10c.783G>C (p.Trp261Cys)
c.593-2207G>C (n.593-2207G>C)
c.585G>C (p.Trp195Cys)
c.473-11344G>C (n.473-11344G>C)
c.450G>C (p.Trp150Cys)
n.899G>C
3g.43577071C>TCA352343965ANO10c.783G>A (p.Trp261Ter)
c.593-2207G>A (n.593-2207G>A)
c.585G>A (p.Trp195Ter)
c.473-11344G>A (n.473-11344G>A)
c.450G>A (p.Trp150Ter)
n.899G>A
 dbSNP gnomAD v4
3g.43577072C>ACA352343966ANO10c.782G>T (p.Trp261Leu)
c.593-2208G>T (n.593-2208G>T)
c.584G>T (p.Trp195Leu)
c.473-11345G>T (n.473-11345G>T)
c.449G>T (p.Trp150Leu)
n.898G>T
3g.43577072C>GCA352343967ANO10c.782G>C (p.Trp261Ser)
c.593-2208G>C (n.593-2208G>C)
c.584G>C (p.Trp195Ser)
c.473-11345G>C (n.473-11345G>C)
c.449G>C (p.Trp150Ser)
n.898G>C
3g.43577072C>TCA352343968ANO10c.782G>A (p.Trp261Ter)
c.593-2208G>A (n.593-2208G>A)
c.584G>A (p.Trp195Ter)
c.473-11345G>A (n.473-11345G>A)
c.449G>A (p.Trp150Ter)
n.898G>A

Number of alleles fetched