Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.120640300_120643612delCA2582342875HGDc.774+711_879+1293del
c.202+990_307+1293del
c.181-1915_285+1293del
c.194+711_299+1293del
c.550-1915_654+1293del
c.351+711_456+1293del
ClinVar
3g.120641588C>ACA354073846HGDc.879+1G>T (n.879+1G>T)
n.219+1G>T
c.307+1G>T
c.285+1G>T (n.285+1G>T)
c.299+1G>T
c.654+1G>T (n.654+1G>T)
c.456+1G>T (n.456+1G>T)
3g.120641588C=CA1397094503HGDc.879+1G= (n.879+1G=)
n.219+1G=
c.307+1G=
c.285+1G= (n.285+1G=)
c.299+1G=
c.654+1G= (n.654+1G=)
c.456+1G= (n.456+1G=)
3g.120641588C>GCA354073847HGDc.879+1G>C (n.879+1G>C)
n.219+1G>C
c.307+1G>C
c.285+1G>C (n.285+1G>C)
c.299+1G>C
c.654+1G>C (n.654+1G>C)
c.456+1G>C (n.456+1G>C)
3g.120641588C>TCA354073848HGDc.879+1G>A (n.879+1G>A)
n.219+1G>A
c.307+1G>A
c.285+1G>A (n.285+1G>A)
c.299+1G>A
c.654+1G>A (n.654+1G>A)
c.456+1G>A (n.456+1G>A)
ClinVar dbSNP gnomAD v4
3g.120641589T>ACA435227558HGDc.879A>T (p.Ala293=)
n.219A>T
c.307A>T
c.285A>T (p.Ala95=)
c.299A>T
c.654A>T (p.Ala218=)
c.456A>T (p.Ala152=)
3g.120641589T>CCA435227557HGDc.879A>G (p.Ala293=)
n.219A>G
c.307A>G
c.285A>G (p.Ala95=)
c.299A>G
c.654A>G (p.Ala218=)
c.456A>G (p.Ala152=)
gnomAD v4
3g.120641589T>GCA435227556HGDc.879A>C (p.Ala293=)
n.219A>C
c.307A>C
c.285A>C (p.Ala95=)
c.299A>C
c.654A>C (p.Ala218=)
c.456A>C (p.Ala152=)
3g.120641590G>ACA354073850HGDc.878C>T (p.Ala293Val)
n.218C>T
c.306C>T
c.284C>T (p.Ala95Val)
c.298C>T
c.653C>T (p.Ala218Val)
c.455C>T (p.Ala152Val)
gnomAD v4
3g.120641590G>CCA354073849HGDc.878C>G (p.Ala293Gly)
n.218C>G
c.306C>G
c.284C>G (p.Ala95Gly)
c.298C>G
c.653C>G (p.Ala218Gly)
c.455C>G (p.Ala152Gly)
3g.120641590G=CA1397094504HGDc.878C= (p.Ala293=)
n.218C=
c.306C=
c.284C= (p.Ala95=)
c.298C=
c.653C= (p.Ala218=)
c.455C= (p.Ala152=)
3g.120641590G>TCA81783899HGDc.878C>A (p.Ala293Glu)
n.218C>A
c.306C>A
c.284C>A (p.Ala95Glu)
c.298C>A
c.653C>A (p.Ala218Glu)
c.455C>A (p.Ala152Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120641591C>ACA354073853HGDc.877G>T (p.Ala293Ser)
n.217G>T
c.305G>T
c.283G>T (p.Ala95Ser)
c.297G>T
c.652G>T (p.Ala218Ser)
c.454G>T (p.Ala152Ser)
gnomAD v4
3g.120641591C>GCA354073851HGDc.877G>C (p.Ala293Pro)
n.217G>C
c.305G>C
c.283G>C (p.Ala95Pro)
c.297G>C
c.652G>C (p.Ala218Pro)
c.454G>C (p.Ala152Pro)
3g.120641591C>TCA354073852HGDc.877G>A (p.Ala293Thr)
n.217G>A
c.305G>A
c.283G>A (p.Ala95Thr)
c.297G>A
c.652G>A (p.Ala218Thr)
c.454G>A (p.Ala152Thr)
3g.120641592A=CA1397094505HGDc.876T= (p.His292=)
n.216T=
c.304T=
c.282T= (p.His94=)
c.296T=
c.651T= (p.His217=)
c.453T= (p.His151=)
3g.120641592A>CCA354073854HGDc.876T>G (p.His292Gln)
n.216T>G
c.304T>G
c.282T>G (p.His94Gln)
c.296T>G
c.651T>G (p.His217Gln)
c.453T>G (p.His151Gln)
dbSNP
3g.120641592A>GCA435227562HGDc.876T>C (p.His292=)
n.216T>C
c.304T>C
c.282T>C (p.His94=)
c.296T>C
c.651T>C (p.His217=)
c.453T>C (p.His151=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120641592A>TCA354073855HGDc.876T>A (p.His292Gln)
n.216T>A
c.304T>A
c.282T>A (p.His94Gln)
c.296T>A
c.651T>A (p.His217Gln)
c.453T>A (p.His151Gln)
3g.120641593T>ACA354073856HGDc.875A>T (p.His292Leu)
n.215A>T
c.303A>T
c.281A>T (p.His94Leu)
c.295A>T
c.650A>T (p.His217Leu)
c.452A>T (p.His151Leu)
3g.120641593T>CCA354073857HGDc.875A>G (p.His292Arg)
n.215A>G
c.303A>G
c.281A>G (p.His94Arg)
c.295A>G
c.650A>G (p.His217Arg)
c.452A>G (p.His151Arg)
ClinVar gnomAD v4
3g.120641593T>GCA354073858HGDc.875A>C (p.His292Pro)
n.215A>C
c.303A>C
c.281A>C (p.His94Pro)
c.295A>C
c.650A>C (p.His217Pro)
c.452A>C (p.His151Pro)
3g.120641594G>ACA354073859HGDc.874C>T (p.His292Tyr)
n.214C>T
c.302C>T
c.280C>T (p.His94Tyr)
c.294C>T
c.649C>T (p.His217Tyr)
c.451C>T (p.His151Tyr)
3g.120641594G>CCA354073860HGDc.874C>G (p.His292Asp)
n.214C>G
c.302C>G
c.280C>G (p.His94Asp)
c.294C>G
c.649C>G (p.His217Asp)
c.451C>G (p.His151Asp)
3g.120641594G>TCA354073861HGDc.874C>A (p.His292Asn)
n.214C>A
c.302C>A
c.280C>A (p.His94Asn)
c.294C>A
c.649C>A (p.His217Asn)
c.451C>A (p.His151Asn)
3g.120641595delCA2667171257HGDc.874del (p.His292MetfsTer10)
n.214del
c.302del
c.280del (p.His94MetfsTer7)
c.294del
c.649del (p.His217MetfsTer10)
c.874del (p.His292MetfsTer24)
c.451del (p.His151MetfsTer10)
gnomAD v4
3g.120641595G>ACA435227567HGDc.873C>T (p.Asp291=)
n.213C>T
c.301C>T
c.279C>T (p.Asp93=)
c.293C>T
c.648C>T (p.Asp216=)
c.450C>T (p.Asp150=)
dbSNP gnomAD v2 gnomAD v4
3g.120641595G>CCA354073862HGDc.873C>G (p.Asp291Glu)
n.213C>G
c.301C>G
c.279C>G (p.Asp93Glu)
c.293C>G
c.648C>G (p.Asp216Glu)
c.450C>G (p.Asp150Glu)
3g.120641595G=CA1397094506HGDc.873C= (p.Asp291=)
n.213C=
c.301C=
c.279C= (p.Asp93=)
c.293C=
c.648C= (p.Asp216=)
c.450C= (p.Asp150=)
3g.120641595G>TCA2560044HGDc.873C>A (p.Asp291Glu)
n.213C>A
c.301C>A
c.279C>A (p.Asp93Glu)
c.293C>A
c.648C>A (p.Asp216Glu)
c.450C>A (p.Asp150Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.120641596T>ACA354073864HGDc.872A>T (p.Asp291Val)
n.212A>T
c.300A>T
c.278A>T (p.Asp93Val)
c.292A>T
c.647A>T (p.Asp216Val)
c.449A>T (p.Asp150Val)
3g.120641596T>CCA354073865HGDc.872A>G (p.Asp291Gly)
n.212A>G
c.300A>G
c.278A>G (p.Asp93Gly)
c.292A>G
c.647A>G (p.Asp216Gly)
c.449A>G (p.Asp150Gly)
3g.120641596T>GCA354073863HGDc.872A>C (p.Asp291Ala)
n.212A>C
c.300A>C
c.278A>C (p.Asp93Ala)
c.292A>C
c.647A>C (p.Asp216Ala)
c.449A>C (p.Asp150Ala)
3g.120641597C>ACA354073866HGDc.871G>T (p.Asp291Tyr)
n.211G>T
c.299G>T
c.277G>T (p.Asp93Tyr)
c.291G>T
c.646G>T (p.Asp216Tyr)
c.448G>T (p.Asp150Tyr)
3g.120641597C>GCA354073867HGDc.871G>C (p.Asp291His)
n.211G>C
c.299G>C
c.277G>C (p.Asp93His)
c.291G>C
c.646G>C (p.Asp216His)
c.448G>C (p.Asp150His)
3g.120641597C>TCA354073868HGDc.871G>A (p.Asp291Asn)
n.211G>A
c.299G>A
c.277G>A (p.Asp93Asn)
c.291G>A
c.646G>A (p.Asp216Asn)
c.448G>A (p.Asp150Asn)
3g.120641598A>CCA354073869HGDc.870T>G (p.Phe290Leu)
n.210T>G
c.298T>G
c.276T>G (p.Phe92Leu)
c.290T>G
c.645T>G (p.Phe215Leu)
c.447T>G (p.Phe149Leu)
3g.120641598A>GCA435227569HGDc.870T>C (p.Phe290=)
n.210T>C
c.298T>C
c.276T>C (p.Phe92=)
c.290T>C
c.645T>C (p.Phe215=)
c.447T>C (p.Phe149=)
3g.120641598A>TCA354073870HGDc.870T>A (p.Phe290Leu)
n.210T>A
c.298T>A
c.276T>A (p.Phe92Leu)
c.290T>A
c.645T>A (p.Phe215Leu)
c.447T>A (p.Phe149Leu)
3g.120641599A>CCA354073873HGDc.869T>G (p.Phe290Cys)
n.209T>G
c.297T>G
c.275T>G (p.Phe92Cys)
c.289T>G
c.644T>G (p.Phe215Cys)
c.446T>G (p.Phe149Cys)
3g.120641599A>GCA354073871HGDc.869T>C (p.Phe290Ser)
n.209T>C
c.297T>C
c.275T>C (p.Phe92Ser)
c.289T>C
c.644T>C (p.Phe215Ser)
c.446T>C (p.Phe149Ser)
3g.120641599A>TCA354073872HGDc.869T>A (p.Phe290Tyr)
n.209T>A
c.297T>A
c.275T>A (p.Phe92Tyr)
c.289T>A
c.644T>A (p.Phe215Tyr)
c.446T>A (p.Phe149Tyr)
3g.120641600A>CCA354073874HGDc.868T>G (p.Phe290Val)
n.208T>G
c.296T>G
c.274T>G (p.Phe92Val)
c.288T>G
c.643T>G (p.Phe215Val)
c.445T>G (p.Phe149Val)
3g.120641600A>GCA354073875HGDc.868T>C (p.Phe290Leu)
n.208T>C
c.296T>C
c.274T>C (p.Phe92Leu)
c.288T>C
c.643T>C (p.Phe215Leu)
c.445T>C (p.Phe149Leu)
3g.120641600A>TCA354073876HGDc.868T>A (p.Phe290Ile)
n.208T>A
c.296T>A
c.274T>A (p.Phe92Ile)
c.288T>A
c.643T>A (p.Phe215Ile)
c.445T>A (p.Phe149Ile)
3g.120641601G>ACA435227570HGDc.867C>T (p.Ala289=)
n.207C>T
c.295C>T
c.273C>T (p.Ala91=)
c.287C>T
c.642C>T (p.Ala214=)
c.444C>T (p.Ala148=)
3g.120641601G>CCA435227571HGDc.867C>G (p.Ala289=)
n.207C>G
c.295C>G
c.273C>G (p.Ala91=)
c.287C>G
c.642C>G (p.Ala214=)
c.444C>G (p.Ala148=)
3g.120641601G>TCA435227572HGDc.867C>A (p.Ala289=)
n.207C>A
c.295C>A
c.273C>A (p.Ala91=)
c.287C>A
c.642C>A (p.Ala214=)
c.444C>A (p.Ala148=)
3g.120641602G>ACA354073877HGDc.866C>T (p.Ala289Val)
n.206C>T
c.294C>T
c.272C>T (p.Ala91Val)
c.286C>T
c.641C>T (p.Ala214Val)
c.443C>T (p.Ala148Val)
COSMIC
3g.120641602G>CCA354073878HGDc.866C>G (p.Ala289Gly)
n.206C>G
c.294C>G
c.272C>G (p.Ala91Gly)
c.286C>G
c.641C>G (p.Ala214Gly)
c.443C>G (p.Ala148Gly)

Number of alleles fetched