Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.130458486_130458487delinsACCA1881249969ASS1c.260_261delinsAC (p.Tyr87=)
c.374_375delinsAC (p.Tyr125=)
c.356_357delinsAC (p.Tyr119=)
9g.130458487C>ACA375225163ASS1c.261C>A (p.Tyr87Ter)
c.375C>A (p.Tyr125Ter)
c.357C>A (p.Tyr119Ter)
9g.130458487C=CA1881249970ASS1c.261C= (p.Tyr87=)
c.375C= (p.Tyr125=)
c.357C= (p.Tyr119=)
9g.130458487C>GCA375225164ASS1c.261C>G (p.Tyr87Ter)
c.375C>G (p.Tyr125Ter)
c.357C>G (p.Tyr119Ter)
9g.130458487C>TCA5283212ASS1c.261C>T (p.Tyr87=)
c.375C>T (p.Tyr125=)
c.357C>T (p.Tyr119=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458488delCA915947573ASS1c.262del (p.Leu88SerfsTer?)
c.376del (p.Leu126SerfsTer?)
c.358del (p.Leu120SerfsTer?)
 ClinVar dbSNP
9g.130458488C>ACA200608041ASS1c.262C>A (p.Leu88Ile)
c.376C>A (p.Leu126Ile)
c.358C>A (p.Leu120Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.130458488C=CA1881249971ASS1c.262C= (p.Leu88=)
c.376C= (p.Leu126=)
c.358C= (p.Leu120=)
9g.130458488C>GCA375225165ASS1c.262C>G (p.Leu88Val)
c.376C>G (p.Leu126Val)
c.358C>G (p.Leu120Val)
9g.130458488C>TCA375225166ASS1c.262C>T (p.Leu88Phe)
c.376C>T (p.Leu126Phe)
c.358C>T (p.Leu120Phe)
 dbSNP gnomAD v3 gnomAD v4
9g.130458489T>ACA375225168ASS1c.263T>A (p.Leu88His)
c.377T>A (p.Leu126His)
c.359T>A (p.Leu120His)
9g.130458489T>CCA375225169ASS1c.263T>C (p.Leu88Pro)
c.377T>C (p.Leu126Pro)
c.359T>C (p.Leu120Pro)
 gnomAD v4
9g.130458489T>GCA375225167ASS1c.263T>G (p.Leu88Arg)
c.377T>G (p.Leu126Arg)
c.359T>G (p.Leu120Arg)
9g.130458490C>ACA467388512ASS1c.264C>A (p.Leu88=)
c.378C>A (p.Leu126=)
c.360C>A (p.Leu120=)
9g.130458490C=CA1881249972ASS1c.264C= (p.Leu88=)
c.378C= (p.Leu126=)
c.360C= (p.Leu120=)
9g.130458490C>GCA467388511ASS1c.264C>G (p.Leu88=)
c.378C>G (p.Leu126=)
c.360C>G (p.Leu120=)
9g.130458490C>TCA467388510ASS1c.264C>T (p.Leu88=)
c.378C>T (p.Leu126=)
c.360C>T (p.Leu120=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.130458491C>ACA375225170ASS1c.265C>A (p.Leu89Met)
c.379C>A (p.Leu127Met)
c.361C>A (p.Leu121Met)
9g.130458491C=CA1881249973ASS1c.265C= (p.Leu89=)
c.379C= (p.Leu127=)
c.361C= (p.Leu121=)
9g.130458491C>GCA375225171ASS1c.265C>G (p.Leu89Val)
c.379C>G (p.Leu127Val)
c.361C>G (p.Leu121Val)
 dbSNP gnomAD v2 gnomAD v4
9g.130458491C>TCA467388513ASS1c.265C>T (p.Leu89=)
c.379C>T (p.Leu127=)
c.361C>T (p.Leu121=)
9g.130458492T>ACA375225172ASS1c.266T>A (p.Leu89Gln)
c.380T>A (p.Leu127Gln)
c.362T>A (p.Leu121Gln)
9g.130458492T>CCA375225173ASS1c.266T>C (p.Leu89Pro)
c.380T>C (p.Leu127Pro)
c.362T>C (p.Leu121Pro)
9g.130458492T>GCA375225174ASS1c.266T>G (p.Leu89Arg)
c.380T>G (p.Leu127Arg)
c.362T>G (p.Leu121Arg)
9g.130458493G>ACA467388514ASS1c.267G>A (p.Leu89=)
c.381G>A (p.Leu127=)
c.363G>A (p.Leu121=)
 dbSNP gnomAD v3 gnomAD v4
9g.130458493G>CCA467388515ASS1c.267G>C (p.Leu89=)
c.381G>C (p.Leu127=)
c.363G>C (p.Leu121=)
 ClinVar gnomAD v4
9g.130458493G=CA1881249974ASS1c.267G= (p.Leu89=)
c.381G= (p.Leu127=)
c.363G= (p.Leu121=)
9g.130458493G>TCA467388516ASS1c.267G>T (p.Leu89=)
c.381G>T (p.Leu127=)
c.363G>T (p.Leu121=)
9g.130458494G>ACA375225177ASS1c.268G>A (p.Gly90Ser)
c.382G>A (p.Gly128Ser)
c.364G>A (p.Gly122Ser)
9g.130458494G>CCA375225176ASS1c.268G>C (p.Gly90Arg)
c.382G>C (p.Gly128Arg)
c.364G>C (p.Gly122Arg)
9g.130458494G>TCA375225175ASS1c.268G>T (p.Gly90Cys)
c.382G>T (p.Gly128Cys)
c.364G>T (p.Gly122Cys)
9g.130458495G>ACA375225178ASS1c.269G>A (p.Gly90Asp)
c.383G>A (p.Gly128Asp)
c.365G>A (p.Gly122Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130458495G>CCA375225179ASS1c.269G>C (p.Gly90Ala)
c.383G>C (p.Gly128Ala)
c.365G>C (p.Gly122Ala)
9g.130458495G=CA1881249975ASS1c.269G= (p.Gly90=)
c.383G= (p.Gly128=)
c.365G= (p.Gly122=)
9g.130458495G>TCA375225180ASS1c.269G>T (p.Gly90Val)
c.383G>T (p.Gly128Val)
c.365G>T (p.Gly122Val)
9g.130458496C>ACA467388517ASS1c.270C>A (p.Gly90=)
c.384C>A (p.Gly128=)
c.366C>A (p.Gly122=)
9g.130458496C=CA1881249976ASS1c.270C= (p.Gly90=)
c.384C= (p.Gly128=)
c.366C= (p.Gly122=)
9g.130458496C>GCA467388518ASS1c.270C>G (p.Gly90=)
c.384C>G (p.Gly128=)
c.366C>G (p.Gly122=)
9g.130458496C>TCA467388519ASS1c.270C>T (p.Gly90=)
c.384C>T (p.Gly128=)
c.366C>T (p.Gly122=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130458497A=CA1881249977ASS1c.271A= (p.Thr91=)
c.385A= (p.Thr129=)
c.367A= (p.Thr123=)
9g.130458497A>CCA5283213ASS1c.271A>C (p.Thr91Pro)
c.385A>C (p.Thr129Pro)
c.367A>C (p.Thr123Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458497A>GCA375225181ASS1c.271A>G (p.Thr91Ala)
c.385A>G (p.Thr129Ala)
c.367A>G (p.Thr123Ala)
9g.130458497A>TCA375225182ASS1c.271A>T (p.Thr91Ser)
c.385A>T (p.Thr129Ser)
c.367A>T (p.Thr123Ser)
9g.130458498C>ACA375225183ASS1c.272C>A (p.Thr91Asn)
c.386C>A (p.Thr129Asn)
c.368C>A (p.Thr123Asn)
9g.130458498C>GCA375225185ASS1c.272C>G (p.Thr91Ser)
c.386C>G (p.Thr129Ser)
c.368C>G (p.Thr123Ser)
9g.130458498C>TCA375225184ASS1c.272C>T (p.Thr91Ile)
c.386C>T (p.Thr129Ile)
c.368C>T (p.Thr123Ile)
9g.130458499C>ACA467388520ASS1c.273C>A (p.Thr91=)
c.387C>A (p.Thr129=)
c.369C>A (p.Thr123=)
9g.130458499C>GCA467388521ASS1c.273C>G (p.Thr91=)
c.387C>G (p.Thr129=)
c.369C>G (p.Thr123=)
 ClinVar
9g.130458499C>TCA467388522ASS1c.273C>T (p.Thr91=)
c.387C>T (p.Thr129=)
c.369C>T (p.Thr123=)
9g.130458503_130458504delCA2528095414ASS1c.277_278del (p.Leu93CysfsTer?)
c.391_392del (p.Leu131CysfsTer?)
c.373_374del (p.Leu125CysfsTer?)
9g.130458500T>ACA375225186ASS1c.274T>A (p.Ser92Thr)
c.388T>A (p.Ser130Thr)
c.370T>A (p.Ser124Thr)
9g.130458500T>CCA375225187ASS1c.274T>C (p.Ser92Pro)
c.388T>C (p.Ser130Pro)
c.370T>C (p.Ser124Pro)
9g.130458500T>GCA375225188ASS1c.274T>G (p.Ser92Ala)
c.388T>G (p.Ser130Ala)
c.370T>G (p.Ser124Ala)
9g.130458501C>ACA375225189ASS1c.275C>A (p.Ser92Tyr)
c.389C>A (p.Ser130Tyr)
c.371C>A (p.Ser124Tyr)
9g.130458501C=CA1881249978ASS1c.275C= (p.Ser92=)
c.389C= (p.Ser130=)
c.371C= (p.Ser124=)
9g.130458501C>GCA375225190ASS1c.275C>G (p.Ser92Cys)
c.389C>G (p.Ser130Cys)
c.371C>G (p.Ser124Cys)
9g.130458501C>TCA5283214ASS1c.275C>T (p.Ser92Phe)
c.389C>T (p.Ser130Phe)
c.371C>T (p.Ser124Phe)
 dbSNP ExAC gnomAD v2
9g.130458502T>ACA467388523ASS1c.276T>A (p.Ser92=)
c.390T>A (p.Ser130=)
c.372T>A (p.Ser124=)
9g.130458502T>CCA467388524ASS1c.276T>C (p.Ser92=)
c.390T>C (p.Ser130=)
c.372T>C (p.Ser124=)
9g.130458502T>GCA467388525ASS1c.276T>G (p.Ser92=)
c.390T>G (p.Ser130=)
c.372T>G (p.Ser124=)
9g.130458503C>ACA375225191ASS1c.277C>A (p.Leu93Ile)
c.391C>A (p.Leu131Ile)
c.373C>A (p.Leu125Ile)
9g.130458503C>GCA375225192ASS1c.277C>G (p.Leu93Val)
c.391C>G (p.Leu131Val)
c.373C>G (p.Leu125Val)
9g.130458503C>TCA375225193ASS1c.277C>T (p.Leu93Phe)
c.391C>T (p.Leu131Phe)
c.373C>T (p.Leu125Phe)
9g.130458504T>ACA375225194ASS1c.278T>A (p.Leu93His)
c.392T>A (p.Leu131His)
c.374T>A (p.Leu125His)
9g.130458504T>CCA375225195ASS1c.278T>C (p.Leu93Pro)
c.392T>C (p.Leu131Pro)
c.374T>C (p.Leu125Pro)
9g.130458504T>GCA375225196ASS1c.278T>G (p.Leu93Arg)
c.392T>G (p.Leu131Arg)
c.374T>G (p.Leu125Arg)
9g.130458505T>ACA467388526ASS1c.279T>A (p.Leu93=)
c.393T>A (p.Leu131=)
c.375T>A (p.Leu125=)
9g.130458505T>CCA200608053ASS1c.279T>C (p.Leu93=)
c.393T>C (p.Leu131=)
c.375T>C (p.Leu125=)
 dbSNP gnomAD v4
9g.130458505T>GCA467388527ASS1c.279T>G (p.Leu93=)
c.393T>G (p.Leu131=)
c.375T>G (p.Leu125=)
9g.130458505T=CA1881249979ASS1c.279T= (p.Leu93=)
c.393T= (p.Leu131=)
c.375T= (p.Leu125=)
9g.130458506G>ACA375225198ASS1c.280G>A (p.Ala94Thr)
c.394G>A (p.Ala132Thr)
c.376G>A (p.Ala126Thr)
9g.130458506G>CCA375225197ASS1c.280G>C (p.Ala94Pro)
c.394G>C (p.Ala132Pro)
c.376G>C (p.Ala126Pro)
9g.130458506G>TCA375225199ASS1c.280G>T (p.Ala94Ser)
c.394G>T (p.Ala132Ser)
c.376G>T (p.Ala126Ser)
 gnomAD v4
9g.130458507C>ACA375225200ASS1c.281C>A (p.Ala94Asp)
c.395C>A (p.Ala132Asp)
c.377C>A (p.Ala126Asp)
 dbSNP
9g.130458507C=CA1881249980ASS1c.281C= (p.Ala94=)
c.395C= (p.Ala132=)
c.377C= (p.Ala126=)
9g.130458507C>GCA375225202ASS1c.281C>G (p.Ala94Gly)
c.395C>G (p.Ala132Gly)
c.377C>G (p.Ala126Gly)
9g.130458507C>TCA375225201ASS1c.281C>T (p.Ala94Val)
c.395C>T (p.Ala132Val)
c.377C>T (p.Ala126Val)
 gnomAD v4
9g.130458508C>ACA467388528ASS1c.282C>A (p.Ala94=)
c.396C>A (p.Ala132=)
c.378C>A (p.Ala126=)
9g.130458508C>GCA467388529ASS1c.282C>G (p.Ala94=)
c.396C>G (p.Ala132=)
c.378C>G (p.Ala126=)
9g.130458508C>TCA467388531ASS1c.282C>T (p.Ala94=)
c.396C>T (p.Ala132=)
c.378C>T (p.Ala126=)
9g.130458509A=CA1881249982ASS1c.283A= (p.Arg95=)
c.397A= (p.Arg133=)
c.379A= (p.Arg127=)
9g.130458509A>CCA467388534ASS1c.283A>C (p.Arg95=)
c.397A>C (p.Arg133=)
c.379A>C (p.Arg127=)
 dbSNP gnomAD v4
9g.130458509A>GCA375225203ASS1c.283A>G (p.Arg95Gly)
c.397A>G (p.Arg133Gly)
c.379A>G (p.Arg127Gly)
9g.130458509A>TCA375225204ASS1c.283A>T (p.Arg95Trp)
c.397A>T (p.Arg133Trp)
c.379A>T (p.Arg127Trp)
9g.130458509_130458510delinsAGCA1881249981ASS1c.283_284delinsAG (p.Arg95=)
c.397_398delinsAG (p.Arg133=)
c.379_380delinsAG (p.Arg127=)
9g.130458510G>ACA375225205ASS1c.284G>A (p.Arg95Lys)
c.398G>A (p.Arg133Lys)
c.380G>A (p.Arg127Lys)
9g.130458510G>CCA375225206ASS1c.284G>C (p.Arg95Thr)
c.398G>C (p.Arg133Thr)
c.380G>C (p.Arg127Thr)
9g.130458510G>TCA375225207ASS1c.284G>T (p.Arg95Met)
c.398G>T (p.Arg133Met)
c.380G>T (p.Arg127Met)
9g.130458511delCA590945147ASS1c.285del (p.Arg95SerfsTer?)
c.399del (p.Arg133SerfsTer?)
c.381del (p.Arg127SerfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130458511G>ACA467388539ASS1c.285G>A (p.Arg95=)
c.399G>A (p.Arg133=)
c.381G>A (p.Arg127=)
9g.130458511G>CCA375225208ASS1c.285G>C (p.Arg95Ser)
c.399G>C (p.Arg133Ser)
c.381G>C (p.Arg127Ser)
9g.130458511G>TCA375225209ASS1c.285G>T (p.Arg95Ser)
c.399G>T (p.Arg133Ser)
c.381G>T (p.Arg127Ser)
9g.130458511_130458512delinsTTCA2580079803ASS1c.285_286delinsTT (p.Arg95_Pro96delinsSerSer)
c.399_400delinsTT (p.Arg133_Pro134delinsSerSer)
c.381_382delinsTT (p.Arg127_Pro128delinsSerSer)
 ClinVar
9g.130458512C>ACA375225210ASS1c.286C>A (p.Pro96Thr)
c.400C>A (p.Pro134Thr)
c.382C>A (p.Pro128Thr)
 ClinVar dbSNP gnomAD v4
9g.130458512C>GCA375225211ASS1c.286C>G (p.Pro96Ala)
c.400C>G (p.Pro134Ala)
c.382C>G (p.Pro128Ala)
9g.130458512C>TCA375225212ASS1c.286C>T (p.Pro96Ser)
c.400C>T (p.Pro134Ser)
c.382C>T (p.Pro128Ser)
9g.130458513C>ACA375225213ASS1c.287C>A (p.Pro96His)
c.401C>A (p.Pro134His)
c.383C>A (p.Pro128His)
 gnomAD v4
9g.130458513C>GCA375225214ASS1c.287C>G (p.Pro96Arg)
c.401C>G (p.Pro134Arg)
c.383C>G (p.Pro128Arg)
9g.130458513C>TCA375225215ASS1c.287C>T (p.Pro96Leu)
c.401C>T (p.Pro134Leu)
c.383C>T (p.Pro128Leu)
9g.130458514C>ACA467388545ASS1c.288C>A (p.Pro96=)
c.402C>A (p.Pro134=)
c.384C>A (p.Pro128=)
 dbSNP
9g.130458514C=CA1881249983ASS1c.288C= (p.Pro96=)
c.402C= (p.Pro134=)
c.384C= (p.Pro128=)
9g.130458514C>GCA467388546ASS1c.288C>G (p.Pro96=)
c.402C>G (p.Pro134=)
c.384C>G (p.Pro128=)
9g.130458514C>TCA200608057ASS1c.288C>T (p.Pro96=)
c.402C>T (p.Pro134=)
c.384C>T (p.Pro128=)
 dbSNP
9g.130458515T>ACA375225216ASS1c.289T>A (p.Cys97Ser)
c.403T>A (p.Cys135Ser)
c.385T>A (p.Cys129Ser)
9g.130458515T>CCA375225217ASS1c.289T>C (p.Cys97Arg)
c.403T>C (p.Cys135Arg)
c.385T>C (p.Cys129Arg)
9g.130458515T>GCA375225218ASS1c.289T>G (p.Cys97Gly)
c.403T>G (p.Cys135Gly)
c.385T>G (p.Cys129Gly)
9g.130458516G>ACA375225219ASS1c.290G>A (p.Cys97Tyr)
c.404G>A (p.Cys135Tyr)
c.386G>A (p.Cys129Tyr)
 dbSNP
9g.130458516G>CCA375225220ASS1c.290G>C (p.Cys97Ser)
c.404G>C (p.Cys135Ser)
c.386G>C (p.Cys129Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.130458516G=CA1881249984ASS1c.290G= (p.Cys97=)
c.404G= (p.Cys135=)
c.386G= (p.Cys129=)
9g.130458516G>TCA375225221ASS1c.290G>T (p.Cys97Phe)
c.404G>T (p.Cys135Phe)
c.386G>T (p.Cys129Phe)
9g.130458517C>ACA375225222ASS1c.291C>A (p.Cys97Ter)
c.405C>A (p.Cys135Ter)
c.387C>A (p.Cys129Ter)
 ClinVar dbSNP gnomAD v4
9g.130458517C=CA1881249985ASS1c.291C= (p.Cys97=)
c.405C= (p.Cys135=)
c.387C= (p.Cys129=)
9g.130458517C>GCA375225223ASS1c.291C>G (p.Cys97Trp)
c.405C>G (p.Cys135Trp)
c.387C>G (p.Cys129Trp)
9g.130458517C>TCA467388553ASS1c.291C>T (p.Cys97=)
c.405C>T (p.Cys135=)
c.387C>T (p.Cys129=)
9g.130458518A=CA1881249986ASS1c.292A= (p.Ile98=)
n.1A=
c.406A= (p.Ile136=)
c.388A= (p.Ile130=)
9g.130458518A>CCA375225224ASS1c.292A>C (p.Ile98Leu)
n.1A>C
c.406A>C (p.Ile136Leu)
c.388A>C (p.Ile130Leu)
9g.130458518A>GCA5283215ASS1c.292A>G (p.Ile98Val)
n.1A>G
c.406A>G (p.Ile136Val)
c.388A>G (p.Ile130Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458518A>TCA375225225ASS1c.292A>T (p.Ile98Phe)
n.1A>T
c.406A>T (p.Ile136Phe)
c.388A>T (p.Ile130Phe)
9g.130458519T>ACA375225228ASS1c.293T>A (p.Ile98Asn)
n.2T>A
c.407T>A (p.Ile136Asn)
c.389T>A (p.Ile130Asn)
9g.130458519T>CCA375225227ASS1c.293T>C (p.Ile98Thr)
n.2T>C
c.407T>C (p.Ile136Thr)
c.389T>C (p.Ile130Thr)
9g.130458519T>GCA375225226ASS1c.293T>G (p.Ile98Ser)
n.2T>G
c.407T>G (p.Ile136Ser)
c.389T>G (p.Ile130Ser)
9g.130458520C>ACA467388555ASS1c.294C>A (p.Ile98=)
n.3C>A
c.408C>A (p.Ile136=)
c.390C>A (p.Ile130=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.130458520C=CA1881249987ASS1c.294C= (p.Ile98=)
n.3C=
c.408C= (p.Ile136=)
c.390C= (p.Ile130=)
9g.130458520C>GCA375225229ASS1c.294C>G (p.Ile98Met)
n.3C>G
c.408C>G (p.Ile136Met)
c.390C>G (p.Ile130Met)
9g.130458520C>TCA5283216ASS1c.294C>T (p.Ile98=)
n.3C>T
c.408C>T (p.Ile136=)
c.390C>T (p.Ile130=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458521G>ACA5283217ASS1c.295G>A (p.Ala99Thr)
n.4G>A
c.409G>A (p.Ala137Thr)
c.391G>A (p.Ala131Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458521G>CCA375225230ASS1c.295G>C (p.Ala99Pro)
n.4G>C
c.409G>C (p.Ala137Pro)
c.391G>C (p.Ala131Pro)
9g.130458521G=CA1881249988ASS1c.295G= (p.Ala99=)
n.4G=
c.409G= (p.Ala137=)
c.391G= (p.Ala131=)
9g.130458521G>TCA375225231ASS1c.295G>T (p.Ala99Ser)
n.4G>T
c.409G>T (p.Ala137Ser)
c.391G>T (p.Ala131Ser)
9g.130458522C>ACA375225234ASS1c.296C>A (p.Ala99Asp)
n.5C>A
c.410C>A (p.Ala137Asp)
c.392C>A (p.Ala131Asp)
9g.130458522C>GCA375225233ASS1c.296C>G (p.Ala99Gly)
n.5C>G
c.410C>G (p.Ala137Gly)
c.392C>G (p.Ala131Gly)
9g.130458522C>TCA375225232ASS1c.296C>T (p.Ala99Val)
n.5C>T
c.410C>T (p.Ala137Val)
c.392C>T (p.Ala131Val)
9g.130458523C>ACA467388559ASS1c.297C>A (p.Ala99=)
n.6C>A
c.411C>A (p.Ala137=)
c.393C>A (p.Ala131=)
9g.130458523C=CA1881249989ASS1c.297C= (p.Ala99=)
n.6C=
c.411C= (p.Ala137=)
c.393C= (p.Ala131=)
9g.130458523C>GCA467388562ASS1c.297C>G (p.Ala99=)
n.6C>G
c.411C>G (p.Ala137=)
c.393C>G (p.Ala131=)
9g.130458523C>TCA467388561ASS1c.297C>T (p.Ala99=)
n.6C>T
c.411C>T (p.Ala137=)
c.393C>T (p.Ala131=)
 dbSNP
9g.130458524C>ACA375225235ASS1c.298C>A (p.Arg100Ser)
n.7C>A
c.412C>A (p.Arg138Ser)
c.394C>A (p.Arg132Ser)
9g.130458524C=CA1881249990ASS1c.298C= (p.Arg100=)
n.7C=
c.412C= (p.Arg138=)
c.394C= (p.Arg132=)
9g.130458524C>GCA375225236ASS1c.298C>G (p.Arg100Gly)
n.7C>G
c.412C>G (p.Arg138Gly)
c.394C>G (p.Arg132Gly)
9g.130458524C>TCA5283218ASS1c.298C>T (p.Arg100Cys)
n.7C>T
c.412C>T (p.Arg138Cys)
c.394C>T (p.Arg132Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458525_130458526dupCA2692120797ASS1c.299_300dup (p.Lys101AlafsTer?)
n.8_9dup
c.413_414dup (p.Lys139AlafsTer?)
c.395_396dup (p.Lys133AlafsTer?)
 gnomAD v4
9g.130458525delCA2692120804ASS1c.299del (p.Arg100ProfsTer?)
n.8del
c.413del (p.Arg138ProfsTer?)
c.395del (p.Arg132ProfsTer?)
 ClinVar gnomAD v4
9g.130458525G>ACA5283219ASS1c.299G>A (p.Arg100His)
n.8G>A
c.413G>A (p.Arg138His)
c.395G>A (p.Arg132His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458525G>CCA375225237ASS1c.299G>C (p.Arg100Pro)
n.8G>C
c.413G>C (p.Arg138Pro)
c.395G>C (p.Arg132Pro)
9g.130458525G=CA1881249991ASS1c.299G= (p.Arg100=)
n.8G=
c.413G= (p.Arg138=)
c.395G= (p.Arg132=)
9g.130458525G>TCA375225238ASS1c.299G>T (p.Arg100Leu)
n.8G>T
c.413G>T (p.Arg138Leu)
c.395G>T (p.Arg132Leu)
 ClinVar
9g.130458526C>ACA467388565ASS1c.300C>A (p.Arg100=)
n.9C>A
c.414C>A (p.Arg138=)
c.396C>A (p.Arg132=)
9g.130458526C>GCA467388568ASS1c.300C>G (p.Arg100=)
n.9C>G
c.414C>G (p.Arg138=)
c.396C>G (p.Arg132=)
9g.130458526C>TCA467388566ASS1c.300C>T (p.Arg100=)
n.9C>T
c.414C>T (p.Arg138=)
c.396C>T (p.Arg132=)
 ClinVar
9g.130458527A>CCA375225239ASS1c.301A>C (p.Lys101Gln)
n.10A>C
c.415A>C (p.Lys139Gln)
c.397A>C (p.Lys133Gln)
9g.130458527A>GCA375225241ASS1c.301A>G (p.Lys101Glu)
n.10A>G
c.415A>G (p.Lys139Glu)
c.397A>G (p.Lys133Glu)
 gnomAD v4
9g.130458527A>TCA375225240ASS1c.301A>T (p.Lys101Ter)
n.10A>T
c.415A>T (p.Lys139Ter)
c.397A>T (p.Lys133Ter)
9g.130458528A>CCA375225242ASS1c.302A>C (p.Lys101Thr)
n.11A>C
c.416A>C (p.Lys139Thr)
c.398A>C (p.Lys133Thr)
9g.130458528A>GCA375225243ASS1c.302A>G (p.Lys101Arg)
n.11A>G
c.416A>G (p.Lys139Arg)
c.398A>G (p.Lys133Arg)
9g.130458528A>TCA375225244ASS1c.302A>T (p.Lys101Ile)
n.11A>T
c.416A>T (p.Lys139Ile)
c.398A>T (p.Lys133Ile)
9g.130458529A>CCA375225245ASS1c.303A>C (p.Lys101Asn)
n.12A>C
c.417A>C (p.Lys139Asn)
c.399A>C (p.Lys133Asn)
9g.130458529A>GCA467388572ASS1c.303A>G (p.Lys101=)
n.12A>G
c.417A>G (p.Lys139=)
c.399A>G (p.Lys133=)
9g.130458529A>TCA375225246ASS1c.303A>T (p.Lys101Asn)
n.12A>T
c.417A>T (p.Lys139Asn)
c.399A>T (p.Lys133Asn)
9g.130458530delCA2695211514ASS1c.304del (p.Gln102LysfsTer?)
n.13del
c.418del (p.Gln140LysfsTer?)
c.400del (p.Gln134LysfsTer?)
9g.130458530C>ACA375225247ASS1c.304C>A (p.Gln102Lys)
n.13C>A
c.418C>A (p.Gln140Lys)
c.400C>A (p.Gln134Lys)
9g.130458530C>GCA375225248ASS1c.304C>G (p.Gln102Glu)
n.13C>G
c.418C>G (p.Gln140Glu)
c.400C>G (p.Gln134Glu)
9g.130458530C>TCA375225249ASS1c.304C>T (p.Gln102Ter)
n.13C>T
c.418C>T (p.Gln140Ter)
c.400C>T (p.Gln134Ter)
9g.130458531A>CCA375225250ASS1c.305A>C (p.Gln102Pro)
n.14A>C
c.419A>C (p.Gln140Pro)
c.401A>C (p.Gln134Pro)
9g.130458531A>GCA375225251ASS1c.305A>G (p.Gln102Arg)
n.14A>G
c.419A>G (p.Gln140Arg)
c.401A>G (p.Gln134Arg)
9g.130458531A>TCA375225252ASS1c.305A>T (p.Gln102Leu)
n.14A>T
c.419A>T (p.Gln140Leu)
c.401A>T (p.Gln134Leu)
9g.130458532A=CA1881249992ASS1c.306A= (p.Gln102=)
n.15A=
c.420A= (p.Gln140=)
c.402A= (p.Gln134=)
9g.130458532A>CCA375225254ASS1c.306A>C (p.Gln102His)
n.15A>C
c.420A>C (p.Gln140His)
c.402A>C (p.Gln134His)
9g.130458532A>GCA5283220ASS1c.306A>G (p.Gln102=)
n.15A>G
c.420A>G (p.Gln140=)
c.402A>G (p.Gln134=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458532A>TCA375225253ASS1c.306A>T (p.Gln102His)
n.15A>T
c.420A>T (p.Gln140His)
c.402A>T (p.Gln134His)
9g.130458533G>ACA200608079ASS1c.307G>A (p.Val103Met)
n.16G>A
c.421G>A (p.Val141Met)
c.403G>A (p.Val135Met)
 dbSNP gnomAD v4
9g.130458533G>CCA375225255ASS1c.307G>C (p.Val103Leu)
n.16G>C
c.421G>C (p.Val141Leu)
c.403G>C (p.Val135Leu)
9g.130458533G=CA1881249993ASS1c.307G= (p.Val103=)
n.16G=
c.421G= (p.Val141=)
c.403G= (p.Val135=)
9g.130458533G>TCA375225256ASS1c.307G>T (p.Val103Leu)
n.16G>T
c.421G>T (p.Val141Leu)
c.403G>T (p.Val135Leu)
9g.130458534T>ACA375225257ASS1c.308T>A (p.Val103Glu)
n.17T>A
c.422T>A (p.Val141Glu)
c.404T>A (p.Val135Glu)
9g.130458534T>CCA375225258ASS1c.308T>C (p.Val103Ala)
n.17T>C
c.422T>C (p.Val141Ala)
c.404T>C (p.Val135Ala)
9g.130458534T>GCA375225259ASS1c.308T>G (p.Val103Gly)
n.17T>G
c.422T>G (p.Val141Gly)
c.404T>G (p.Val135Gly)
9g.130458535G>ACA467388579ASS1c.309G>A (p.Val103=)
n.18G>A
c.423G>A (p.Val141=)
c.405G>A (p.Val135=)
 ClinVar dbSNP
9g.130458535G>CCA467388580ASS1c.309G>C (p.Val103=)
n.18G>C
c.423G>C (p.Val141=)
c.405G>C (p.Val135=)
9g.130458535G=CA1881249994ASS1c.309G= (p.Val103=)
n.18G=
c.423G= (p.Val141=)
c.405G= (p.Val135=)
9g.130458535G>TCA467388581ASS1c.309G>T (p.Val103=)
n.18G>T
c.423G>T (p.Val141=)
c.405G>T (p.Val135=)
9g.130458536G>ACA375225262ASS1c.310G>A (p.Glu104Lys)
n.19G>A
c.424G>A (p.Glu142Lys)
c.406G>A (p.Glu136Lys)
 gnomAD v4 COSMIC
9g.130458536G>CCA375225260ASS1c.310G>C (p.Glu104Gln)
n.19G>C
c.424G>C (p.Glu142Gln)
c.406G>C (p.Glu136Gln)
9g.130458536G>TCA375225261ASS1c.310G>T (p.Glu104Ter)
n.19G>T
c.424G>T (p.Glu142Ter)
c.406G>T (p.Glu136Ter)
9g.130458537A>CCA375225263ASS1c.311A>C (p.Glu104Ala)
n.20A>C
c.425A>C (p.Glu142Ala)
c.407A>C (p.Glu136Ala)
9g.130458537A>GCA375225264ASS1c.311A>G (p.Glu104Gly)
n.20A>G
c.425A>G (p.Glu142Gly)
c.407A>G (p.Glu136Gly)
9g.130458537A>TCA375225265ASS1c.311A>T (p.Glu104Val)
n.20A>T
c.425A>T (p.Glu142Val)
c.407A>T (p.Glu136Val)
9g.130458538A>CCA375225266ASS1c.312A>C (p.Glu104Asp)
n.21A>C
c.426A>C (p.Glu142Asp)
c.408A>C (p.Glu136Asp)
9g.130458538A>GCA467388589ASS1c.312A>G (p.Glu104=)
n.21A>G
c.426A>G (p.Glu142=)
c.408A>G (p.Glu136=)
9g.130458538A>TCA375225267ASS1c.312A>T (p.Glu104Asp)
n.21A>T
c.426A>T (p.Glu142Asp)
c.408A>T (p.Glu136Asp)
9g.130458539A=CA1881249995ASS1c.313A= (p.Ile105=)
n.22A=
c.427A= (p.Ile143=)
c.409A= (p.Ile137=)
9g.130458539A>CCA375225270ASS1c.313A>C (p.Ile105Leu)
n.22A>C
c.427A>C (p.Ile143Leu)
c.409A>C (p.Ile137Leu)
9g.130458539A>GCA375225268ASS1c.313A>G (p.Ile105Val)
n.22A>G
c.427A>G (p.Ile143Val)
c.409A>G (p.Ile137Val)
 dbSNP
9g.130458539A>TCA375225269ASS1c.313A>T (p.Ile105Phe)
n.22A>T
c.427A>T (p.Ile143Phe)
c.409A>T (p.Ile137Phe)
9g.130458540T>ACA375225271ASS1c.314T>A (p.Ile105Asn)
n.23T>A
c.428T>A (p.Ile143Asn)
c.410T>A (p.Ile137Asn)
9g.130458540T>CCA375225272ASS1c.314T>C (p.Ile105Thr)
n.23T>C
c.428T>C (p.Ile143Thr)
c.410T>C (p.Ile137Thr)
9g.130458540T>GCA375225273ASS1c.314T>G (p.Ile105Ser)
n.23T>G
c.428T>G (p.Ile143Ser)
c.410T>G (p.Ile137Ser)
 ClinVar dbSNP
9g.130458540T=CA1881249996ASS1c.314T= (p.Ile105=)
n.23T=
c.428T= (p.Ile143=)
c.410T= (p.Ile137=)
9g.130458541C>ACA467388592ASS1c.315C>A (p.Ile105=)
n.24C>A
c.429C>A (p.Ile143=)
c.411C>A (p.Ile137=)
9g.130458541C=CA1881249997ASS1c.315C= (p.Ile105=)
n.24C=
c.429C= (p.Ile143=)
c.411C= (p.Ile137=)
9g.130458541C>GCA375225274ASS1c.315C>G (p.Ile105Met)
n.24C>G
c.429C>G (p.Ile143Met)
c.411C>G (p.Ile137Met)
 gnomAD v4
9g.130458541C>TCA200608083ASS1c.315C>T (p.Ile105=)
n.24C>T
c.429C>T (p.Ile143=)
c.411C>T (p.Ile137=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130458542G>ACA5283221ASS1c.316G>A (p.Ala106Thr)
n.25G>A
c.430G>A (p.Ala144Thr)
c.412G>A (p.Ala138Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.130458542G>CCA375225275ASS1c.316G>C (p.Ala106Pro)
n.25G>C
c.430G>C (p.Ala144Pro)
c.412G>C (p.Ala138Pro)
9g.130458542G=CA1881249998ASS1c.316G= (p.Ala106=)
n.25G=
c.430G= (p.Ala144=)
c.412G= (p.Ala138=)
9g.130458542G>TCA375225276ASS1c.316G>T (p.Ala106Ser)
n.25G>T
c.430G>T (p.Ala144Ser)
c.412G>T (p.Ala138Ser)
9g.130458542_130458543delinsGCCA1881249999ASS1c.316_317delinsGC (p.Ala106=)
n.25_26delinsGC
c.430_431delinsGC (p.Ala144=)
c.412_413delinsGC (p.Ala138=)
9g.130458543C>ACA375225277ASS1c.317C>A (p.Ala106Asp)
n.26C>A
c.431C>A (p.Ala144Asp)
c.413C>A (p.Ala138Asp)
9g.130458543C=CA1881250000ASS1c.317C= (p.Ala106=)
n.26C=
c.431C= (p.Ala144=)
c.413C= (p.Ala138=)
9g.130458543C>GCA5283222ASS1c.317C>G (p.Ala106Gly)
n.26C>G
c.431C>G (p.Ala144Gly)
c.413C>G (p.Ala138Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458543C>TCA375225278ASS1c.317C>T (p.Ala106Val)
n.26C>T
c.431C>T (p.Ala144Val)
c.413C>T (p.Ala138Val)
 gnomAD v4
9g.130458545delCA891843121ASS1c.319del (p.Gln107SerfsTer?)
n.28del
c.433del (p.Gln145SerfsTer?)
c.415del (p.Gln139SerfsTer?)
 ClinVar dbSNP
9g.130458544C>ACA467388597ASS1c.318C>A (p.Ala106=)
n.27C>A
c.432C>A (p.Ala144=)
c.414C>A (p.Ala138=)
9g.130458544C>GCA467388598ASS1c.318C>G (p.Ala106=)
n.27C>G
c.432C>G (p.Ala144=)
c.414C>G (p.Ala138=)
9g.130458544C>TCA467388600ASS1c.318C>T (p.Ala106=)
n.27C>T
c.432C>T (p.Ala144=)
c.414C>T (p.Ala138=)
 ClinVar
9g.130458545C>ACA375225279ASS1c.319C>A (p.Gln107Lys)
n.28C>A
c.433C>A (p.Gln145Lys)
c.415C>A (p.Gln139Lys)
9g.130458545C>GCA375225280ASS1c.319C>G (p.Gln107Glu)
n.28C>G
c.433C>G (p.Gln145Glu)
c.415C>G (p.Gln139Glu)
9g.130458545C>TCA375225281ASS1c.319C>T (p.Gln107Ter)
n.28C>T
c.433C>T (p.Gln145Ter)
c.415C>T (p.Gln139Ter)
9g.130458546A=CA1881250001ASS1c.320A= (p.Gln107=)
n.29A=
c.434A= (p.Gln145=)
c.416A= (p.Gln139=)
9g.130458546A>CCA375225282ASS1c.320A>C (p.Gln107Pro)
n.29A>C
c.434A>C (p.Gln145Pro)
c.416A>C (p.Gln139Pro)
9g.130458546A>GCA5283223ASS1c.320A>G (p.Gln107Arg)
n.29A>G
c.434A>G (p.Gln145Arg)
c.416A>G (p.Gln139Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458546A>TCA375225283ASS1c.320A>T (p.Gln107Leu)
n.29A>T
c.434A>T (p.Gln145Leu)
c.416A>T (p.Gln139Leu)
9g.130458547G>ACA467388609ASS1c.321G>A (p.Gln107=)
n.30G>A
c.435G>A (p.Gln145=)
c.417G>A (p.Gln139=)
 COSMIC
9g.130458547G>CCA375225284ASS1c.321G>C (p.Gln107His)
n.30G>C
c.435G>C (p.Gln145His)
c.417G>C (p.Gln139His)
9g.130458547G>TCA375225285ASS1c.321G>T (p.Gln107His)
n.30G>T
c.435G>T (p.Gln145His)
c.417G>T (p.Gln139His)
9g.130458548C>ACA467388610ASS1c.322C>A (p.Arg108=)
n.31C>A
c.436C>A (p.Arg146=)
c.418C>A (p.Arg140=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130458548C=CA1881250002ASS1c.322C= (p.Arg108=)
n.31C=
c.436C= (p.Arg146=)
c.418C= (p.Arg140=)
9g.130458548C>GCA375225286ASS1c.322C>G (p.Arg108Gly)
n.31C>G
c.436C>G (p.Arg146Gly)
c.418C>G (p.Arg140Gly)
9g.130458548C>TCA5283224ASS1c.322C>T (p.Arg108Trp)
n.31C>T
c.436C>T (p.Arg146Trp)
c.418C>T (p.Arg140Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458549G>ACA5283225ASS1c.323G>A (p.Arg108Gln)
n.32G>A
c.437G>A (p.Arg146Gln)
c.419G>A (p.Arg140Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458549G>CCA375225287ASS1c.323G>C (p.Arg108Pro)
n.32G>C
c.437G>C (p.Arg146Pro)
c.419G>C (p.Arg140Pro)
9g.130458549G=CA1881250003ASS1c.323G= (p.Arg108=)
n.32G=
c.437G= (p.Arg146=)
c.419G= (p.Arg140=)
9g.130458549G>TCA253840ASS1c.323G>T (p.Arg108Leu)
n.32G>T
c.437G>T (p.Arg146Leu)
c.419G>T (p.Arg140Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458551delCA2579483377ASS1c.325del (p.Glu109ArgfsTer?)
n.34del
c.439del (p.Glu147ArgfsTer?)
c.421del (p.Glu141ArgfsTer?)
9g.130458550G>ACA467388614ASS1c.324G>A (p.Arg108=)
n.33G>A
c.438G>A (p.Arg146=)
c.420G>A (p.Arg140=)
 ClinVar
9g.130458550G>CCA467388615ASS1c.324G>C (p.Arg108=)
n.33G>C
c.438G>C (p.Arg146=)
c.420G>C (p.Arg140=)
9g.130458550G>TCA467388616ASS1c.324G>T (p.Arg108=)
n.33G>T
c.438G>T (p.Arg146=)
c.420G>T (p.Arg140=)
9g.130458551G>ACA5283226ASS1c.325G>A (p.Glu109Lys)
n.34G>A
c.439G>A (p.Glu147Lys)
c.421G>A (p.Glu141Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458551G>CCA375225288ASS1c.325G>C (p.Glu109Gln)
n.34G>C
c.439G>C (p.Glu147Gln)
c.421G>C (p.Glu141Gln)
9g.130458551G=CA1881250004ASS1c.325G= (p.Glu109=)
n.34G=
c.439G= (p.Glu147=)
c.421G= (p.Glu141=)
9g.130458551G>TCA375225289ASS1c.325G>T (p.Glu109Ter)
n.34G>T
c.439G>T (p.Glu147Ter)
c.421G>T (p.Glu141Ter)
9g.130458552A=CA1881250005ASS1c.326A= (p.Glu109=)
n.35A=
c.440A= (p.Glu147=)
c.422A= (p.Glu141=)
9g.130458552A>CCA375225290ASS1c.326A>C (p.Glu109Ala)
n.35A>C
c.440A>C (p.Glu147Ala)
c.422A>C (p.Glu141Ala)
9g.130458552A>GCA375225291ASS1c.326A>G (p.Glu109Gly)
n.35A>G
c.440A>G (p.Glu147Gly)
c.422A>G (p.Glu141Gly)
 gnomAD v4
9g.130458552A>TCA200608129ASS1c.326A>T (p.Glu109Val)
n.35A>T
c.440A>T (p.Glu147Val)
c.422A>T (p.Glu141Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.130458552_130458553insTCA2579483378ASS1c.326_327insT (p.Glu109AspfsTer21)
c.326_327insT (p.Glu109AspfsTer22)
n.35_36insT
c.440_441insT (p.Glu147AspfsTer21)
c.422_423insT (p.Glu141AspfsTer21)
9g.130458553G>ACA467388619ASS1c.327G>A (p.Glu109=)
n.36G>A
c.441G>A (p.Glu147=)
c.423G>A (p.Glu141=)
9g.130458553G>CCA375225293ASS1c.327G>C (p.Glu109Asp)
n.36G>C
c.441G>C (p.Glu147Asp)
c.423G>C (p.Glu141Asp)
9g.130458553G>TCA375225292ASS1c.327G>T (p.Glu109Asp)
n.36G>T
c.441G>T (p.Glu147Asp)
c.423G>T (p.Glu141Asp)
9g.130458554G>ACA375225294ASS1c.328G>A (p.Gly110Arg)
n.37G>A
c.442G>A (p.Gly148Arg)
c.424G>A (p.Gly142Arg)
 ClinVar
9g.130458554G>CCA375225295ASS1c.328G>C (p.Gly110Arg)
n.37G>C
c.442G>C (p.Gly148Arg)
c.424G>C (p.Gly142Arg)
9g.130458554G>TCA375225296ASS1c.328G>T (p.Gly110Trp)
n.37G>T
c.442G>T (p.Gly148Trp)
c.424G>T (p.Gly142Trp)
9g.130458555G>ACA375225297ASS1c.329G>A (p.Gly110Glu)
n.38G>A
c.443G>A (p.Gly148Glu)
c.425G>A (p.Gly142Glu)
9g.130458555G>CCA375225298ASS1c.329G>C (p.Gly110Ala)
n.38G>C
c.443G>C (p.Gly148Ala)
c.425G>C (p.Gly142Ala)
9g.130458555G>TCA375225299ASS1c.329G>T (p.Gly110Val)
n.38G>T
c.443G>T (p.Gly148Val)
c.425G>T (p.Gly142Val)
9g.130458556G>ACA5283227ASS1c.330G>A (p.Gly110=)
n.39G>A
c.444G>A (p.Gly148=)
c.426G>A (p.Gly142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458556G>CCA467388620ASS1c.330G>C (p.Gly110=)
n.39G>C
c.444G>C (p.Gly148=)
c.426G>C (p.Gly142=)
 gnomAD v4
9g.130458556G=CA1881250006ASS1c.330G= (p.Gly110=)
n.39G=
c.444G= (p.Gly148=)
c.426G= (p.Gly142=)
9g.130458556G>TCA467388621ASS1c.330G>T (p.Gly110=)
n.39G>T
c.444G>T (p.Gly148=)
c.426G>T (p.Gly142=)
9g.130458557G>ACA375225300ASS1c.331G>A (p.Ala111Thr)
n.40G>A
c.445G>A (p.Ala149Thr)
c.427G>A (p.Ala143Thr)
 gnomAD v4 COSMIC
9g.130458557G>CCA375225301ASS1c.331G>C (p.Ala111Pro)
n.40G>C
c.445G>C (p.Ala149Pro)
c.427G>C (p.Ala143Pro)
9g.130458557G>TCA375225302ASS1c.331G>T (p.Ala111Ser)
n.40G>T
c.445G>T (p.Ala149Ser)
c.427G>T (p.Ala143Ser)
9g.130458558C>ACA375225303ASS1c.332C>A (p.Ala111Asp)
n.41C>A
c.446C>A (p.Ala149Asp)
c.428C>A (p.Ala143Asp)
9g.130458558C>GCA375225304ASS1c.332C>G (p.Ala111Gly)
n.41C>G
c.446C>G (p.Ala149Gly)
c.428C>G (p.Ala143Gly)
9g.130458558C>TCA375225305ASS1c.332C>T (p.Ala111Val)
n.41C>T
c.446C>T (p.Ala149Val)
c.428C>T (p.Ala143Val)
9g.130458559C>ACA467388625ASS1c.333C>A (p.Ala111=)
n.42C>A
c.447C>A (p.Ala149=)
c.429C>A (p.Ala143=)
9g.130458559C=CA1881250007ASS1c.333C= (p.Ala111=)
n.42C=
c.447C= (p.Ala149=)
c.429C= (p.Ala143=)
9g.130458559C>GCA467388626ASS1c.333C>G (p.Ala111=)
n.42C>G
c.447C>G (p.Ala149=)
c.429C>G (p.Ala143=)
9g.130458559C>TCA5283228ASS1c.333C>T (p.Ala111=)
n.42C>T
c.447C>T (p.Ala149=)
c.429C>T (p.Ala143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458560A>CCA375225307ASS1c.334A>C (p.Lys112Gln)
n.43A>C
c.448A>C (p.Lys150Gln)
c.430A>C (p.Lys144Gln)
9g.130458560A>GCA375225308ASS1c.334A>G (p.Lys112Glu)
n.43A>G
c.448A>G (p.Lys150Glu)
c.430A>G (p.Lys144Glu)
9g.130458560A>TCA375225306ASS1c.334A>T (p.Lys112Ter)
n.43A>T
c.448A>T (p.Lys150Ter)
c.430A>T (p.Lys144Ter)
9g.130458561A>CCA375225310ASS1c.335A>C (p.Lys112Thr)
n.44A>C
c.449A>C (p.Lys150Thr)
c.431A>C (p.Lys144Thr)
9g.130458561A>GCA375225309ASS1c.335A>G (p.Lys112Arg)
n.44A>G
c.449A>G (p.Lys150Arg)
c.431A>G (p.Lys144Arg)
9g.130458561A>TCA375225311ASS1c.335A>T (p.Lys112Met)
n.44A>T
c.449A>T (p.Lys150Met)
c.431A>T (p.Lys144Met)
9g.130458562G>ACA200608172ASS1c.336G>A (p.Lys112=)
n.45G>A
c.450G>A (p.Lys150=)
c.432G>A (p.Lys144=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.130458562G>CCA375225313ASS1c.336G>C (p.Lys112Asn)
n.45G>C
c.450G>C (p.Lys150Asn)
c.432G>C (p.Lys144Asn)
9g.130458562G=CA1881250008ASS1c.336G= (p.Lys112=)
n.45G=
c.450G= (p.Lys150=)
c.432G= (p.Lys144=)
9g.130458562G>TCA375225312ASS1c.336G>T (p.Lys112Asn)
n.45G>T
c.450G>T (p.Lys150Asn)
c.432G>T (p.Lys144Asn)
 gnomAD v4
9g.130458563T>ACA375225314ASS1c.337T>A (p.Tyr113Asn)
n.46T>A
c.451T>A (p.Tyr151Asn)
c.433T>A (p.Tyr145Asn)
9g.130458563T>CCA375225316ASS1c.337T>C (p.Tyr113His)
n.46T>C
c.451T>C (p.Tyr151His)
c.433T>C (p.Tyr145His)
9g.130458563T>GCA375225315ASS1c.337T>G (p.Tyr113Asp)
n.46T>G
c.451T>G (p.Tyr151Asp)
c.433T>G (p.Tyr145Asp)
9g.130458564A=CA1881250009ASS1c.338A= (p.Tyr113=)
n.47A=
c.452A= (p.Tyr151=)
c.434A= (p.Tyr145=)
9g.130458564A>CCA375225317ASS1c.338A>C (p.Tyr113Ser)
n.47A>C
c.452A>C (p.Tyr151Ser)
c.434A>C (p.Tyr145Ser)
9g.130458564A>GCA5283229ASS1c.338A>G (p.Tyr113Cys)
n.47A>G
c.452A>G (p.Tyr151Cys)
c.434A>G (p.Tyr145Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458564A>TCA375225318ASS1c.338A>T (p.Tyr113Phe)
n.47A>T
c.452A>T (p.Tyr151Phe)
c.434A>T (p.Tyr145Phe)
9g.130458565T>ACA375225319ASS1c.339T>A (p.Tyr113Ter)
n.48T>A
c.453T>A (p.Tyr151Ter)
c.435T>A (p.Tyr145Ter)
9g.130458565T>CCA467388631ASS1c.339T>C (p.Tyr113=)
n.48T>C
c.453T>C (p.Tyr151=)
c.435T>C (p.Tyr145=)
9g.130458565T>GCA375225320ASS1c.339T>G (p.Tyr113Ter)
n.48T>G
c.453T>G (p.Tyr151Ter)
c.435T>G (p.Tyr145Ter)
 ClinVar dbSNP
9g.130458565T=CA1881250010ASS1c.339T= (p.Tyr113=)
n.48T=
c.453T= (p.Tyr151=)
c.435T= (p.Tyr145=)
9g.130458566G>ACA5283230ASS1c.340G>A (p.Val114Met)
n.49G>A
c.454G>A (p.Val152Met)
c.436G>A (p.Val146Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458566G>CCA375225322ASS1c.340G>C (p.Val114Leu)
n.49G>C
c.454G>C (p.Val152Leu)
c.436G>C (p.Val146Leu)
9g.130458566G=CA1881250011ASS1c.340G= (p.Val114=)
n.49G=
c.454G= (p.Val152=)
c.436G= (p.Val146=)
9g.130458566G>TCA375225321ASS1c.340G>T (p.Val114Leu)
n.49G>T
c.454G>T (p.Val152Leu)
c.436G>T (p.Val146Leu)
9g.130458567T>ACA375225323ASS1c.341T>A (p.Val114Glu)
n.50T>A
c.455T>A (p.Val152Glu)
c.437T>A (p.Val146Glu)
 gnomAD v4
9g.130458567T>CCA375225325ASS1c.341T>C (p.Val114Ala)
n.50T>C
c.455T>C (p.Val152Ala)
c.437T>C (p.Val146Ala)
9g.130458567T>GCA375225324ASS1c.341T>G (p.Val114Gly)
n.50T>G
c.455T>G (p.Val152Gly)
c.437T>G (p.Val146Gly)
9g.130458568G>ACA5283231ASS1c.342G>A (p.Val114=)
n.51G>A
c.456G>A (p.Val152=)
c.438G>A (p.Val146=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458568G>CCA467388634ASS1c.342G>C (p.Val114=)
n.51G>C
c.456G>C (p.Val152=)
c.438G>C (p.Val146=)
 gnomAD v4
9g.130458568G=CA1881250012ASS1c.342G= (p.Val114=)
n.51G=
c.456G= (p.Val152=)
c.438G= (p.Val146=)
9g.130458568G>TCA467388635ASS1c.342G>T (p.Val114=)
n.51G>T
c.456G>T (p.Val152=)
c.438G>T (p.Val146=)
9g.130458569T>ACA375225327ASS1c.343T>A (p.Ser115Thr)
n.52T>A
c.457T>A (p.Ser153Thr)
c.439T>A (p.Ser147Thr)
9g.130458569T>CCA375225326ASS1c.343T>C (p.Ser115Pro)
n.52T>C
c.457T>C (p.Ser153Pro)
c.439T>C (p.Ser147Pro)
9g.130458569T>GCA375225328ASS1c.343T>G (p.Ser115Ala)
n.52T>G
c.457T>G (p.Ser153Ala)
c.439T>G (p.Ser147Ala)
9g.130458570C>ACA375225329ASS1c.344C>A (p.Ser115Tyr)
n.53C>A
c.458C>A (p.Ser153Tyr)
c.440C>A (p.Ser147Tyr)
9g.130458570C>GCA375225331ASS1c.344C>G (p.Ser115Cys)
n.53C>G
c.458C>G (p.Ser153Cys)
c.440C>G (p.Ser147Cys)
9g.130458570C>TCA375225330ASS1c.344C>T (p.Ser115Phe)
n.53C>T
c.458C>T (p.Ser153Phe)
c.440C>T (p.Ser147Phe)
9g.130458571C>ACA467388637ASS1c.345C>A (p.Ser115=)
n.54C>A
c.459C>A (p.Ser153=)
c.441C>A (p.Ser147=)
9g.130458571C=CA1881250013ASS1c.345C= (p.Ser115=)
n.54C=
c.459C= (p.Ser153=)
c.441C= (p.Ser147=)
9g.130458571C>GCA467388638ASS1c.345C>G (p.Ser115=)
n.54C>G
c.459C>G (p.Ser153=)
c.441C>G (p.Ser147=)
9g.130458571C>TCA467388639ASS1c.345C>T (p.Ser115=)
n.54C>T
c.459C>T (p.Ser153=)
c.441C>T (p.Ser147=)
 dbSNP gnomAD v2 COSMIC
9g.130458572C>ACA375225332ASS1c.346C>A (p.His116Asn)
n.55C>A
c.460C>A (p.His154Asn)
c.442C>A (p.His148Asn)
9g.130458572C>GCA375225333ASS1c.346C>G (p.His116Asp)
n.55C>G
c.460C>G (p.His154Asp)
c.442C>G (p.His148Asp)
9g.130458572C>TCA375225334ASS1c.346C>T (p.His116Tyr)
n.55C>T
c.460C>T (p.His154Tyr)
c.442C>T (p.His148Tyr)
9g.130458573A>CCA375225335ASS1c.347A>C (p.His116Pro)
n.56A>C
c.461A>C (p.His154Pro)
c.443A>C (p.His148Pro)
9g.130458573A>GCA375225336ASS1c.347A>G (p.His116Arg)
n.56A>G
c.461A>G (p.His154Arg)
c.443A>G (p.His148Arg)
9g.130458573A>TCA375225337ASS1c.347A>T (p.His116Leu)
n.56A>T
c.461A>T (p.His154Leu)
c.443A>T (p.His148Leu)
9g.130458574C>ACA375225338ASS1c.348C>A (p.His116Gln)
n.57C>A
c.462C>A (p.His154Gln)
c.444C>A (p.His148Gln)
9g.130458574C=CA1881250014ASS1c.348C= (p.His116=)
n.57C=
c.462C= (p.His154=)
c.444C= (p.His148=)
9g.130458574C>GCA375225339ASS1c.348C>G (p.His116Gln)
n.57C>G
c.462C>G (p.His154Gln)
c.444C>G (p.His148Gln)
9g.130458574C>TCA5283232ASS1c.348C>T (p.His116=)
n.57C>T
c.462C>T (p.His154=)
c.444C>T (p.His148=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458575G>ACA5283233ASS1c.349G>A (p.Gly117Ser)
n.58G>A
c.463G>A (p.Gly155Ser)
c.445G>A (p.Gly149Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.130458575G>CCA375225340ASS1c.349G>C (p.Gly117Arg)
n.58G>C
c.463G>C (p.Gly155Arg)
c.445G>C (p.Gly149Arg)
9g.130458575G=CA1881250015ASS1c.349G= (p.Gly117=)
n.58G=
c.463G= (p.Gly155=)
c.445G= (p.Gly149=)
9g.130458575G>TCA375225341ASS1c.349G>T (p.Gly117Cys)
n.58G>T
c.463G>T (p.Gly155Cys)
c.445G>T (p.Gly149Cys)
 gnomAD v4
9g.130458576G>ACA375225343ASS1c.350G>A (p.Gly117Asp)
n.59G>A
c.464G>A (p.Gly155Asp)
c.446G>A (p.Gly149Asp)
 ClinVar dbSNP gnomAD v4
9g.130458576G>CCA375225342ASS1c.350G>C (p.Gly117Ala)
n.59G>C
c.464G>C (p.Gly155Ala)
c.446G>C (p.Gly149Ala)
9g.130458576G=CA1881250016ASS1c.350G= (p.Gly117=)
n.59G=
c.464G= (p.Gly155=)
c.446G= (p.Gly149=)
9g.130458576G>TCA5283234ASS1c.350G>T (p.Gly117Val)
n.59G>T
c.464G>T (p.Gly155Val)
c.446G>T (p.Gly149Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.130458577C>ACA467388642ASS1c.351C>A (p.Gly117=)
n.60C>A
c.465C>A (p.Gly155=)
c.447C>A (p.Gly149=)
9g.130458577C=CA1881250017ASS1c.351C= (p.Gly117=)
n.60C=
c.465C= (p.Gly155=)
c.447C= (p.Gly149=)
9g.130458577C>GCA467388643ASS1c.351C>G (p.Gly117=)
n.60C>G
c.465C>G (p.Gly155=)
c.447C>G (p.Gly149=)
9g.130458577C>TCA5283235ASS1c.351C>T (p.Gly117=)
n.60C>T
c.465C>T (p.Gly155=)
c.447C>T (p.Gly149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.130458578G>ACA5283236ASS1c.352G>A (p.Ala118Thr)
n.61G>A
c.466G>A (p.Ala156Thr)
c.448G>A (p.Ala150Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.130458578G>CCA375225344ASS1c.352G>C (p.Ala118Pro)
n.61G>C
c.466G>C (p.Ala156Pro)
c.448G>C (p.Ala150Pro)
9g.130458578G=CA1881250018ASS1c.352G= (p.Ala118=)
n.61G=
c.466G= (p.Ala156=)
c.448G= (p.Ala150=)
9g.130458578G>TCA375225345ASS1c.352G>T (p.Ala118Ser)
n.61G>T
c.466G>T (p.Ala156Ser)
c.448G>T (p.Ala150Ser)
 gnomAD v4
9g.130458579C>ACA375225346ASS1c.353C>A (p.Ala118Asp)
n.62C>A
c.467C>A (p.Ala156Asp)
c.449C>A (p.Ala150Asp)
9g.130458579C>GCA375225347ASS1c.353C>G (p.Ala118Gly)
n.62C>G
c.467C>G (p.Ala156Gly)
c.449C>G (p.Ala150Gly)
9g.130458579C>TCA375225348ASS1c.353C>T (p.Ala118Val)
n.62C>T
c.467C>T (p.Ala156Val)
c.449C>T (p.Ala150Val)
9g.130458580C>ACA467388647ASS1c.354C>A (p.Ala118=)
n.63C>A
c.468C>A (p.Ala156=)
c.450C>A (p.Ala150=)
9g.130458580C>GCA467388648ASS1c.354C>G (p.Ala118=)
n.63C>G
c.468C>G (p.Ala156=)
c.450C>G (p.Ala150=)
9g.130458580C>TCA467388649ASS1c.354C>T (p.Ala118=)
n.63C>T
c.468C>T (p.Ala156=)
c.450C>T (p.Ala150=)
9g.130458581A=CA1881250019ASS1c.355A= (p.Thr119=)
n.64A=
c.469A= (p.Thr157=)
c.451A= (p.Thr151=)
9g.130458581A>CCA245886ASS1c.355A>C (p.Thr119Pro)
n.64A>C
c.469A>C (p.Thr157Pro)
c.451A>C (p.Thr151Pro)
 ClinVar dbSNP
9g.130458581A>GCA375225349ASS1c.355A>G (p.Thr119Ala)
n.64A>G
c.469A>G (p.Thr157Ala)
c.451A>G (p.Thr151Ala)
9g.130458581A>TCA375225350ASS1c.355A>T (p.Thr119Ser)
n.64A>T
c.469A>T (p.Thr157Ser)
c.451A>T (p.Thr151Ser)
9g.130458582C>ACA375225353ASS1c.356C>A (p.Thr119Lys)
n.65C>A
c.470C>A (p.Thr157Lys)
c.452C>A (p.Thr151Lys)
9g.130458582C=CA1881250020ASS1c.356C= (p.Thr119=)
n.65C=
c.470C= (p.Thr157=)
c.452C= (p.Thr151=)
9g.130458582C>GCA375225352ASS1c.356C>G (p.Thr119Arg)
n.65C>G
c.470C>G (p.Thr157Arg)
c.452C>G (p.Thr151Arg)
9g.130458582C>TCA375225351ASS1c.356C>T (p.Thr119Ile)
n.65C>T
c.470C>T (p.Thr157Ile)
c.452C>T (p.Thr151Ile)
 ClinVar dbSNP gnomAD v4
9g.130458583A>CCA467388655ASS1c.357A>C (p.Thr119=)
n.66A>C
c.471A>C (p.Thr157=)
c.453A>C (p.Thr151=)
9g.130458583A>GCA467388654ASS1c.357A>G (p.Thr119=)
n.66A>G
c.471A>G (p.Thr157=)
c.453A>G (p.Thr151=)
9g.130458583A>TCA467388653ASS1c.357A>T (p.Thr119=)
n.66A>T
c.471A>T (p.Thr157=)
c.453A>T (p.Thr151=)
9g.130458584G>ACA375225354ASS1c.358G>A (p.Gly120Arg)
n.67G>A
c.472G>A (p.Gly158Arg)
c.454G>A (p.Gly152Arg)
9g.130458584G>CCA375225355ASS1c.358G>C (p.Gly120Arg)
n.67G>C
c.472G>C (p.Gly158Arg)
c.454G>C (p.Gly152Arg)
9g.130458584G>TCA375225356ASS1c.358G>T (p.Gly120Ter)
n.67G>T
c.472G>T (p.Gly158Ter)
c.454G>T (p.Gly152Ter)
9g.130458585G>ACA375225357ASS1c.359G>A (p.Gly120Glu)
n.68G>A
c.473G>A (p.Gly158Glu)
c.455G>A (p.Gly152Glu)
 gnomAD v4
9g.130458585G>CCA375225358ASS1c.359G>C (p.Gly120Ala)
n.68G>C
c.473G>C (p.Gly158Ala)
c.455G>C (p.Gly152Ala)
9g.130458585G>TCA375225359ASS1c.359G>T (p.Gly120Val)
n.68G>T
c.473G>T (p.Gly158Val)
c.455G>T (p.Gly152Val)
9g.130458586A=CA1881250021ASS1c.360A= (p.Gly120=)
n.69A=
c.474A= (p.Gly158=)
c.456A= (p.Gly152=)
9g.130458586A>CCA467388659ASS1c.360A>C (p.Gly120=)
n.69A>C
c.474A>C (p.Gly158=)
c.456A>C (p.Gly152=)
9g.130458586A>GCA467388660ASS1c.360A>G (p.Gly120=)
n.69A>G
c.474A>G (p.Gly158=)
c.456A>G (p.Gly152=)
 ClinVar dbSNP gnomAD v4
9g.130458586A>TCA467388661ASS1c.360A>T (p.Gly120=)
n.69A>T
c.474A>T (p.Gly158=)
c.456A>T (p.Gly152=)
9g.130458587A>CCA375225362ASS1c.361A>C (p.Lys121Gln)
n.70A>C
c.475A>C (p.Lys159Gln)
c.457A>C (p.Lys153Gln)
9g.130458587A>GCA375225360ASS1c.361A>G (p.Lys121Glu)
n.70A>G
c.475A>G (p.Lys159Glu)
c.457A>G (p.Lys153Glu)
9g.130458587A>TCA375225361ASS1c.361A>T (p.Lys121Ter)
n.70A>T
c.475A>T (p.Lys159Ter)
c.457A>T (p.Lys153Ter)

Number of alleles fetched