Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122261785A>CCA354151274CASRc.750A>C (p.Glu250Asp)
c.267A>C (p.Glu89Asp)
c.162A>C (p.Glu54Asp)
 ClinVar gnomAD v3 gnomAD v4
3g.122261785A>GCA435424287CASRc.750A>G (p.Glu250=)
c.267A>G (p.Glu89=)
c.162A>G (p.Glu54=)
3g.122261785A>TCA354151275CASRc.750A>T (p.Glu250Asp)
c.267A>T (p.Glu89Asp)
c.162A>T (p.Glu54Asp)
3g.122261786G>ACA354151276CASRc.751G>A (p.Glu251Lys)
c.268G>A (p.Glu90Lys)
c.163G>A (p.Glu55Lys)
 gnomAD v4
3g.122261786G>CCA16611086CASRc.751G>C (p.Glu251Gln)
c.268G>C (p.Glu90Gln)
c.163G>C (p.Glu55Gln)
 ClinVar dbSNP
3g.122261786G=CA1397873066CASRc.751G= (p.Glu251=)
c.268G= (p.Glu90=)
c.163G= (p.Glu55=)
3g.122261786G>TCA354151277CASRc.751G>T (p.Glu251Ter)
c.268G>T (p.Glu90Ter)
c.163G>T (p.Glu55Ter)
3g.122261786_122261790delCA2522536752CASRc.751_755del (p.Glu251ProfsTer25)
c.268_272del (p.Glu90ProfsTer25)
c.163_167del (p.Glu55ProfsTer25)
3g.122261787A=CA1397873069CASRc.752A= (p.Glu251=)
c.269A= (p.Glu90=)
c.164A= (p.Glu55=)
3g.122261787A>CCA354151278CASRc.752A>C (p.Glu251Ala)
c.269A>C (p.Glu90Ala)
c.164A>C (p.Glu55Ala)
3g.122261787A>GCA2569528CASRc.752A>G (p.Glu251Gly)
c.269A>G (p.Glu90Gly)
c.164A>G (p.Glu55Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261787A>TCA354151279CASRc.752A>T (p.Glu251Val)
c.269A>T (p.Glu90Val)
c.164A>T (p.Glu55Val)
3g.122261788G>ACA435424290CASRc.753G>A (p.Glu251=)
c.270G>A (p.Glu90=)
c.165G>A (p.Glu55=)
 ClinVar gnomAD v4 COSMIC
3g.122261788G>CCA354151280CASRc.753G>C (p.Glu251Asp)
c.270G>C (p.Glu90Asp)
c.165G>C (p.Glu55Asp)
 ClinVar dbSNP gnomAD v4
3g.122261788G=CA1397873071CASRc.753G= (p.Glu251=)
c.270G= (p.Glu90=)
c.165G= (p.Glu55=)
3g.122261788G>TCA354151281CASRc.753G>T (p.Glu251Asp)
c.270G>T (p.Glu90Asp)
c.165G>T (p.Glu55Asp)
3g.122261789A>CCA354151284CASRc.754A>C (p.Ile252Leu)
c.271A>C (p.Ile91Leu)
c.166A>C (p.Ile56Leu)
3g.122261789A>GCA354151283CASRc.754A>G (p.Ile252Val)
c.271A>G (p.Ile91Val)
c.166A>G (p.Ile56Val)
 ClinVar dbSNP
3g.122261789A>TCA354151282CASRc.754A>T (p.Ile252Phe)
c.271A>T (p.Ile91Phe)
c.166A>T (p.Ile56Phe)
 ClinVar
3g.122261790T>ACA354151285CASRc.755T>A (p.Ile252Asn)
c.272T>A (p.Ile91Asn)
c.167T>A (p.Ile56Asn)
 ClinVar dbSNP gnomAD v4
3g.122261790T>CCA354151286CASRc.755T>C (p.Ile252Thr)
c.272T>C (p.Ile91Thr)
c.167T>C (p.Ile56Thr)
3g.122261790T>GCA354151287CASRc.755T>G (p.Ile252Ser)
c.272T>G (p.Ile91Ser)
c.167T>G (p.Ile56Ser)
3g.122261790T=CA1397873074CASRc.755T= (p.Ile252=)
c.272T= (p.Ile91=)
c.167T= (p.Ile56=)
3g.122261791C>ACA435424293CASRc.756C>A (p.Ile252=)
c.273C>A (p.Ile91=)
c.168C>A (p.Ile56=)
 ClinVar dbSNP
3g.122261791C=CA1397873075CASRc.756C= (p.Ile252=)
c.273C= (p.Ile91=)
c.168C= (p.Ile56=)
3g.122261791C>GCA354151288CASRc.756C>G (p.Ile252Met)
c.273C>G (p.Ile91Met)
c.168C>G (p.Ile56Met)
 ClinVar
3g.122261791C>TCA82738476CASRc.756C>T (p.Ile252=)
c.273C>T (p.Ile91=)
c.168C>T (p.Ile56=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261792C>ACA2569529CASRc.757C>A (p.Gln253Lys)
c.274C>A (p.Gln92Lys)
c.169C>A (p.Gln57Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261792C=CA1397873078CASRc.757C= (p.Gln253=)
c.274C= (p.Gln92=)
c.169C= (p.Gln57=)
3g.122261792C>GCA354151289CASRc.757C>G (p.Gln253Glu)
c.274C>G (p.Gln92Glu)
c.169C>G (p.Gln57Glu)
3g.122261792C>TCA354151290CASRc.757C>T (p.Gln253Ter)
c.274C>T (p.Gln92Ter)
c.169C>T (p.Gln57Ter)
 gnomAD v4
3g.122261793A=CA1397873080CASRc.758A= (p.Gln253=)
c.275A= (p.Gln92=)
c.170A= (p.Gln57=)
3g.122261793A>CCA354151291CASRc.758A>C (p.Gln253Pro)
c.275A>C (p.Gln92Pro)
c.170A>C (p.Gln57Pro)
3g.122261793A>GCA354151292CASRc.758A>G (p.Gln253Arg)
c.275A>G (p.Gln92Arg)
c.170A>G (p.Gln57Arg)
3g.122261793A>TCA2569530CASRc.758A>T (p.Gln253Leu)
c.275A>T (p.Gln92Leu)
c.170A>T (p.Gln57Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261794G>ACA435424297CASRc.759G>A (p.Gln253=)
c.276G>A (p.Gln92=)
c.171G>A (p.Gln57=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261794G>CCA354151293CASRc.759G>C (p.Gln253His)
c.276G>C (p.Gln92His)
c.171G>C (p.Gln57His)
 dbSNP
3g.122261794G=CA1397873082CASRc.759G= (p.Gln253=)
c.276G= (p.Gln92=)
c.171G= (p.Gln57=)
3g.122261794G>TCA354151294CASRc.759G>T (p.Gln253His)
c.276G>T (p.Gln92His)
c.171G>T (p.Gln57His)
3g.122261795C>ACA354151296CASRc.760C>A (p.His254Asn)
c.277C>A (p.His93Asn)
c.172C>A (p.His58Asn)
3g.122261795C>GCA354151297CASRc.760C>G (p.His254Asp)
c.277C>G (p.His93Asp)
c.172C>G (p.His58Asp)
3g.122261795C>TCA354151295CASRc.760C>T (p.His254Tyr)
c.277C>T (p.His93Tyr)
c.172C>T (p.His58Tyr)
3g.122261796A>CCA354151298CASRc.761A>C (p.His254Pro)
c.278A>C (p.His93Pro)
c.173A>C (p.His58Pro)
3g.122261796A>GCA354151299CASRc.761A>G (p.His254Arg)
c.278A>G (p.His93Arg)
c.173A>G (p.His58Arg)
3g.122261796A>TCA354151300CASRc.761A>T (p.His254Leu)
c.278A>T (p.His93Leu)
c.173A>T (p.His58Leu)
3g.122261797T>ACA354151301CASRc.762T>A (p.His254Gln)
c.279T>A (p.His93Gln)
c.174T>A (p.His58Gln)
3g.122261797T>CCA2569531CASRc.762T>C (p.His254=)
c.279T>C (p.His93=)
c.174T>C (p.His58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261797T>GCA354151302CASRc.762T>G (p.His254Gln)
c.279T>G (p.His93Gln)
c.174T>G (p.His58Gln)
3g.122261797T=CA1397873084CASRc.762T= (p.His254=)
c.279T= (p.His93=)
c.174T= (p.His58=)
3g.122261798G>ACA354151303CASRc.763G>A (p.Val255Met)
c.280G>A (p.Val94Met)
c.175G>A (p.Val59Met)
3g.122261798G>CCA354151304CASRc.763G>C (p.Val255Leu)
c.280G>C (p.Val94Leu)
c.175G>C (p.Val59Leu)
3g.122261798G>TCA354151305CASRc.763G>T (p.Val255Leu)
c.280G>T (p.Val94Leu)
c.175G>T (p.Val59Leu)
 gnomAD v4
3g.122261799T>ACA354151306CASRc.764T>A (p.Val255Glu)
c.281T>A (p.Val94Glu)
c.176T>A (p.Val59Glu)
3g.122261799T>CCA354151307CASRc.764T>C (p.Val255Ala)
c.281T>C (p.Val94Ala)
c.176T>C (p.Val59Ala)
3g.122261799T>GCA354151308CASRc.764T>G (p.Val255Gly)
c.281T>G (p.Val94Gly)
c.176T>G (p.Val59Gly)
3g.122261800G>ACA435424308CASRc.765G>A (p.Val255=)
c.282G>A (p.Val94=)
c.177G>A (p.Val59=)
 ClinVar dbSNP
3g.122261800G>CCA435424309CASRc.765G>C (p.Val255=)
c.282G>C (p.Val94=)
c.177G>C (p.Val59=)
3g.122261800G>TCA435424310CASRc.765G>T (p.Val255=)
c.282G>T (p.Val94=)
c.177G>T (p.Val59=)
3g.122261801G>ACA354151311CASRc.766G>A (p.Val256Ile)
c.283G>A (p.Val95Ile)
c.178G>A (p.Val60Ile)
 ClinVar gnomAD v4
3g.122261801G>CCA354151309CASRc.766G>C (p.Val256Leu)
c.283G>C (p.Val95Leu)
c.178G>C (p.Val60Leu)
3g.122261801G>TCA354151310CASRc.766G>T (p.Val256Leu)
c.283G>T (p.Val95Leu)
c.178G>T (p.Val60Leu)
3g.122261802T>ACA354151312CASRc.767T>A (p.Val256Glu)
c.284T>A (p.Val95Glu)
c.179T>A (p.Val60Glu)
3g.122261802T>CCA354151313CASRc.767T>C (p.Val256Ala)
c.284T>C (p.Val95Ala)
c.179T>C (p.Val60Ala)
 ClinVar dbSNP gnomAD v4
3g.122261802T>GCA354151314CASRc.767T>G (p.Val256Gly)
c.284T>G (p.Val95Gly)
c.179T>G (p.Val60Gly)
3g.122261802T=CA1397873086CASRc.767T= (p.Val256=)
c.284T= (p.Val95=)
c.179T= (p.Val60=)
3g.122261803A>CCA435424319CASRc.768A>C (p.Val256=)
c.285A>C (p.Val95=)
c.180A>C (p.Val60=)
3g.122261803A>GCA435424321CASRc.768A>G (p.Val256=)
c.285A>G (p.Val95=)
c.180A>G (p.Val60=)
 dbSNP
3g.122261803A>TCA435424322CASRc.768A>T (p.Val256=)
c.285A>T (p.Val95=)
c.180A>T (p.Val60=)
3g.122261804G>ACA354151315CASRc.769G>A (p.Glu257Lys)
c.286G>A (p.Glu96Lys)
c.181G>A (p.Glu61Lys)
3g.122261804G>CCA354151316CASRc.769G>C (p.Glu257Gln)
c.286G>C (p.Glu96Gln)
c.181G>C (p.Glu61Gln)
3g.122261804G>TCA354151317CASRc.769G>T (p.Glu257Ter)
c.286G>T (p.Glu96Ter)
c.181G>T (p.Glu61Ter)
3g.122261805A=CA1397873087CASRc.770A= (p.Glu257=)
c.287A= (p.Glu96=)
c.182A= (p.Glu61=)
3g.122261805A>CCA354151318CASRc.770A>C (p.Glu257Ala)
c.287A>C (p.Glu96Ala)
c.182A>C (p.Glu61Ala)
3g.122261805A>GCA2569532CASRc.770A>G (p.Glu257Gly)
c.287A>G (p.Glu96Gly)
c.182A>G (p.Glu61Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261805A>TCA354151319CASRc.770A>T (p.Glu257Val)
c.287A>T (p.Glu96Val)
c.182A>T (p.Glu61Val)
3g.122261806G>ACA435424329CASRc.771G>A (p.Glu257=)
c.288G>A (p.Glu96=)
c.183G>A (p.Glu61=)
3g.122261806G>CCA354151320CASRc.771G>C (p.Glu257Asp)
c.288G>C (p.Glu96Asp)
c.183G>C (p.Glu61Asp)
3g.122261806G>TCA354151321CASRc.771G>T (p.Glu257Asp)
c.288G>T (p.Glu96Asp)
c.183G>T (p.Glu61Asp)
3g.122261807G>ACA354151324CASRc.772G>A (p.Val258Met)
c.289G>A (p.Val97Met)
c.184G>A (p.Val62Met)
3g.122261807G>CCA354151323CASRc.772G>C (p.Val258Leu)
c.289G>C (p.Val97Leu)
c.184G>C (p.Val62Leu)
3g.122261807G>TCA354151322CASRc.772G>T (p.Val258Leu)
c.289G>T (p.Val97Leu)
c.184G>T (p.Val62Leu)
3g.122261807_122261808delinsACA2580068638CASRc.772_773delinsA (p.Val258ArgfsTer?)
c.289_290delinsA (p.Val97ArgfsTer?)
c.184_185delinsA (p.Val62ArgfsTer?)
 ClinVar
3g.122261808T>ACA354151325CASRc.773T>A (p.Val258Glu)
c.290T>A (p.Val97Glu)
c.185T>A (p.Val62Glu)
 gnomAD v4
3g.122261808T>CCA2569533CASRc.773T>C (p.Val258Ala)
c.290T>C (p.Val97Ala)
c.185T>C (p.Val62Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261808T>GCA354151326CASRc.773T>G (p.Val258Gly)
c.290T>G (p.Val97Gly)
c.185T>G (p.Val62Gly)
3g.122261808T=CA1397873089CASRc.773T= (p.Val258=)
c.290T= (p.Val97=)
c.185T= (p.Val62=)
3g.122261809G>ACA435424339CASRc.774G>A (p.Val258=)
c.291G>A (p.Val97=)
c.186G>A (p.Val62=)
3g.122261809G>CCA435424340CASRc.774G>C (p.Val258=)
c.291G>C (p.Val97=)
c.186G>C (p.Val62=)
3g.122261809G>TCA435424341CASRc.774G>T (p.Val258=)
c.291G>T (p.Val97=)
c.186G>T (p.Val62=)
3g.122261810A>CCA354151327CASRc.775A>C (p.Ile259Leu)
c.292A>C (p.Ile98Leu)
c.187A>C (p.Ile63Leu)
3g.122261810A>GCA354151328CASRc.775A>G (p.Ile259Val)
c.292A>G (p.Ile98Val)
c.187A>G (p.Ile63Val)
3g.122261810A>TCA354151329CASRc.775A>T (p.Ile259Phe)
c.292A>T (p.Ile98Phe)
c.187A>T (p.Ile63Phe)
3g.122261811T>ACA354151330CASRc.776T>A (p.Ile259Asn)
c.293T>A (p.Ile98Asn)
c.188T>A (p.Ile63Asn)
3g.122261811T>CCA354151331CASRc.776T>C (p.Ile259Thr)
c.293T>C (p.Ile98Thr)
c.188T>C (p.Ile63Thr)
 ClinVar dbSNP gnomAD v2
3g.122261811T>GCA354151332CASRc.776T>G (p.Ile259Ser)
c.293T>G (p.Ile98Ser)
c.188T>G (p.Ile63Ser)
3g.122261811T=CA1397873091CASRc.776T= (p.Ile259=)
c.293T= (p.Ile98=)
c.188T= (p.Ile63=)
3g.122261812T>ACA435424347CASRc.777T>A (p.Ile259=)
c.294T>A (p.Ile98=)
c.189T>A (p.Ile63=)
3g.122261812T>CCA435424348CASRc.777T>C (p.Ile259=)
c.294T>C (p.Ile98=)
c.189T>C (p.Ile63=)
3g.122261812T>GCA354151333CASRc.777T>G (p.Ile259Met)
c.294T>G (p.Ile98Met)
c.189T>G (p.Ile63Met)
3g.122261813C>ACA354151334CASRc.778C>A (p.Gln260Lys)
c.295C>A (p.Gln99Lys)
c.190C>A (p.Gln64Lys)
3g.122261813C=CA1397873092CASRc.778C= (p.Gln260=)
c.295C= (p.Gln99=)
c.190C= (p.Gln64=)
3g.122261813C>GCA354151335CASRc.778C>G (p.Gln260Glu)
c.295C>G (p.Gln99Glu)
c.190C>G (p.Gln64Glu)
 ClinVar dbSNP gnomAD v4
3g.122261813C>TCA354151336CASRc.778C>T (p.Gln260Ter)
c.295C>T (p.Gln99Ter)
c.190C>T (p.Gln64Ter)
3g.122261814A=CA1397873095CASRc.779A= (p.Gln260=)
c.296A= (p.Gln99=)
c.191A= (p.Gln64=)
3g.122261814A>CCA354151337CASRc.779A>C (p.Gln260Pro)
c.296A>C (p.Gln99Pro)
c.191A>C (p.Gln64Pro)
3g.122261814A>GCA2569534CASRc.779A>G (p.Gln260Arg)
c.296A>G (p.Gln99Arg)
c.191A>G (p.Gln64Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261814A>TCA354151338CASRc.779A>T (p.Gln260Leu)
c.296A>T (p.Gln99Leu)
c.191A>T (p.Gln64Leu)
3g.122261815A=CA1397873097CASRc.780A= (p.Gln260=)
c.297A= (p.Gln99=)
c.192A= (p.Gln64=)
3g.122261815A>CCA354151339CASRc.780A>C (p.Gln260His)
c.297A>C (p.Gln99His)
c.192A>C (p.Gln64His)
3g.122261815A>GCA16611290CASRc.780A>G (p.Gln260=)
c.297A>G (p.Gln99=)
c.192A>G (p.Gln64=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261815A>TCA354151340CASRc.780A>T (p.Gln260His)
c.297A>T (p.Gln99His)
c.192A>T (p.Gln64His)
3g.122261816A>CCA354151341CASRc.781A>C (p.Asn261His)
c.298A>C (p.Asn100His)
c.193A>C (p.Asn65His)
3g.122261816A>GCA354151342CASRc.781A>G (p.Asn261Asp)
c.298A>G (p.Asn100Asp)
c.193A>G (p.Asn65Asp)
3g.122261816A>TCA354151343CASRc.781A>T (p.Asn261Tyr)
c.298A>T (p.Asn100Tyr)
c.193A>T (p.Asn65Tyr)
3g.122261817A=CA1397873099CASRc.782A= (p.Asn261=)
c.299A= (p.Asn100=)
c.194A= (p.Asn65=)
3g.122261817A>CCA354151344CASRc.782A>C (p.Asn261Thr)
c.299A>C (p.Asn100Thr)
c.194A>C (p.Asn65Thr)
 ClinVar dbSNP
3g.122261817A>GCA354151345CASRc.782A>G (p.Asn261Ser)
c.299A>G (p.Asn100Ser)
c.194A>G (p.Asn65Ser)
3g.122261817A>TCA354151346CASRc.782A>T (p.Asn261Ile)
c.299A>T (p.Asn100Ile)
c.194A>T (p.Asn65Ile)
3g.122261818T>ACA354151347CASRc.783T>A (p.Asn261Lys)
c.300T>A (p.Asn100Lys)
c.195T>A (p.Asn65Lys)
3g.122261818T>CCA435424356CASRc.783T>C (p.Asn261=)
c.300T>C (p.Asn100=)
c.195T>C (p.Asn65=)
 ClinVar dbSNP
3g.122261818T>GCA354151348CASRc.783T>G (p.Asn261Lys)
c.300T>G (p.Asn100Lys)
c.195T>G (p.Asn65Lys)
3g.122261818T=CA1397873100CASRc.783T= (p.Asn261=)
c.300T= (p.Asn100=)
c.195T= (p.Asn65=)
3g.122261819T>ACA354151349CASRc.784T>A (p.Ser262Thr)
c.301T>A (p.Ser101Thr)
c.196T>A (p.Ser66Thr)
3g.122261819T>CCA354151350CASRc.784T>C (p.Ser262Pro)
c.301T>C (p.Ser101Pro)
c.196T>C (p.Ser66Pro)
3g.122261819T>GCA354151351CASRc.784T>G (p.Ser262Ala)
c.301T>G (p.Ser101Ala)
c.196T>G (p.Ser66Ala)
3g.122261820C>ACA354151353CASRc.785C>A (p.Ser262Tyr)
c.302C>A (p.Ser101Tyr)
c.197C>A (p.Ser66Tyr)
3g.122261820C>GCA354151354CASRc.785C>G (p.Ser262Cys)
c.302C>G (p.Ser101Cys)
c.197C>G (p.Ser66Cys)
3g.122261820C>TCA354151352CASRc.785C>T (p.Ser262Phe)
c.302C>T (p.Ser101Phe)
c.197C>T (p.Ser66Phe)
3g.122261821C>ACA435424364CASRc.786C>A (p.Ser262=)
c.303C>A (p.Ser101=)
c.198C>A (p.Ser66=)
3g.122261821C>GCA435424365CASRc.786C>G (p.Ser262=)
c.303C>G (p.Ser101=)
c.198C>G (p.Ser66=)
3g.122261821C>TCA435424368CASRc.786C>T (p.Ser262=)
c.303C>T (p.Ser101=)
c.198C>T (p.Ser66=)
3g.122261822A=CA1397873102CASRc.787A= (p.Thr263=)
c.304A= (p.Thr102=)
c.199A= (p.Thr67=)
3g.122261822A>CCA354151355CASRc.787A>C (p.Thr263Pro)
c.304A>C (p.Thr102Pro)
c.199A>C (p.Thr67Pro)
3g.122261822A>GCA354151356CASRc.787A>G (p.Thr263Ala)
c.304A>G (p.Thr102Ala)
c.199A>G (p.Thr67Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261822A>TCA354151357CASRc.787A>T (p.Thr263Ser)
c.304A>T (p.Thr102Ser)
c.199A>T (p.Thr67Ser)
3g.122261823C>ACA2569536CASRc.788C>A (p.Thr263Lys)
c.305C>A (p.Thr102Lys)
c.200C>A (p.Thr67Lys)
 dbSNP ExAC
3g.122261823C=CA1397873104CASRc.788C= (p.Thr263=)
c.305C= (p.Thr102=)
c.200C= (p.Thr67=)
3g.122261823C>GCA354151358CASRc.788C>G (p.Thr263Arg)
c.305C>G (p.Thr102Arg)
c.200C>G (p.Thr67Arg)
3g.122261823C>TCA2569535CASRc.788C>T (p.Thr263Met)
c.305C>T (p.Thr102Met)
c.200C>T (p.Thr67Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122261824G>ACA82738552CASRc.789G>A (p.Thr263=)
c.306G>A (p.Thr102=)
c.201G>A (p.Thr67=)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261824G>CCA435424372CASRc.789G>C (p.Thr263=)
c.306G>C (p.Thr102=)
c.201G>C (p.Thr67=)
3g.122261824G=CA1397873106CASRc.789G= (p.Thr263=)
c.306G= (p.Thr102=)
c.201G= (p.Thr67=)
3g.122261824G>TCA435424374CASRc.789G>T (p.Thr263=)
c.306G>T (p.Thr102=)
c.201G>T (p.Thr67=)
 gnomAD v4
3g.122261825G>ACA354151359CASRc.790G>A (p.Ala264Thr)
c.307G>A (p.Ala103Thr)
c.202G>A (p.Ala68Thr)
 COSMIC
3g.122261825G>CCA354151360CASRc.790G>C (p.Ala264Pro)
c.307G>C (p.Ala103Pro)
c.202G>C (p.Ala68Pro)
3g.122261825G>TCA354151361CASRc.790G>T (p.Ala264Ser)
c.307G>T (p.Ala103Ser)
c.202G>T (p.Ala68Ser)
3g.122261826C>ACA354151362CASRc.791C>A (p.Ala264Asp)
c.308C>A (p.Ala103Asp)
c.203C>A (p.Ala68Asp)
3g.122261826C>GCA354151363CASRc.791C>G (p.Ala264Gly)
c.308C>G (p.Ala103Gly)
c.203C>G (p.Ala68Gly)
 ClinVar
3g.122261826C>TCA354151364CASRc.791C>T (p.Ala264Val)
c.308C>T (p.Ala103Val)
c.203C>T (p.Ala68Val)
 ClinVar gnomAD v4
3g.122261827delCA2603853746CASRc.792del (p.Val266SerfsTer?)
c.309del (p.Val105SerfsTer?)
c.204del (p.Val70SerfsTer?)
 gnomAD v3 gnomAD v4
3g.122261827C>ACA435424375CASRc.792C>A (p.Ala264=)
c.309C>A (p.Ala103=)
c.204C>A (p.Ala68=)
3g.122261827C>GCA435424376CASRc.792C>G (p.Ala264=)
c.309C>G (p.Ala103=)
c.204C>G (p.Ala68=)
3g.122261827C>TCA435424377CASRc.792C>T (p.Ala264=)
c.309C>T (p.Ala103=)
c.204C>T (p.Ala68=)
3g.122261828A>CCA354151367CASRc.793A>C (p.Lys265Gln)
c.310A>C (p.Lys104Gln)
c.205A>C (p.Lys69Gln)
3g.122261828A>GCA354151366CASRc.793A>G (p.Lys265Glu)
c.310A>G (p.Lys104Glu)
c.205A>G (p.Lys69Glu)
3g.122261828A>TCA354151365CASRc.793A>T (p.Lys265Ter)
c.310A>T (p.Lys104Ter)
c.205A>T (p.Lys69Ter)
3g.122261829A>CCA354151368CASRc.794A>C (p.Lys265Thr)
c.311A>C (p.Lys104Thr)
c.206A>C (p.Lys69Thr)
3g.122261829A>GCA354151369CASRc.794A>G (p.Lys265Arg)
c.311A>G (p.Lys104Arg)
c.206A>G (p.Lys69Arg)
 ClinVar
3g.122261829A>TCA354151370CASRc.794A>T (p.Lys265Ile)
c.311A>T (p.Lys104Ile)
c.206A>T (p.Lys69Ile)
3g.122261830A>CCA354151371CASRc.795A>C (p.Lys265Asn)
c.312A>C (p.Lys104Asn)
c.207A>C (p.Lys69Asn)
3g.122261830A>GCA435424382CASRc.795A>G (p.Lys265=)
c.312A>G (p.Lys104=)
c.207A>G (p.Lys69=)
 ClinVar dbSNP
3g.122261830A>TCA354151372CASRc.795A>T (p.Lys265Asn)
c.312A>T (p.Lys104Asn)
c.207A>T (p.Lys69Asn)
3g.122261831G>ACA354151373CASRc.796G>A (p.Val266Ile)
c.313G>A (p.Val105Ile)
c.208G>A (p.Val70Ile)
 ClinVar dbSNP
3g.122261831G>CCA354151374CASRc.796G>C (p.Val266Leu)
c.313G>C (p.Val105Leu)
c.208G>C (p.Val70Leu)
3g.122261831G=CA1397873108CASRc.796G= (p.Val266=)
c.313G= (p.Val105=)
c.208G= (p.Val70=)
3g.122261831G>TCA354151375CASRc.796G>T (p.Val266Phe)
c.313G>T (p.Val105Phe)
c.208G>T (p.Val70Phe)
3g.122261832T>ACA354151376CASRc.797T>A (p.Val266Asp)
c.314T>A (p.Val105Asp)
c.209T>A (p.Val70Asp)
3g.122261832T>CCA354151377CASRc.797T>C (p.Val266Ala)
c.314T>C (p.Val105Ala)
c.209T>C (p.Val70Ala)
3g.122261832T>GCA354151378CASRc.797T>G (p.Val266Gly)
c.314T>G (p.Val105Gly)
c.209T>G (p.Val70Gly)
 ClinVar
3g.122261833C>ACA435424389CASRc.798C>A (p.Val266=)
c.315C>A (p.Val105=)
c.210C>A (p.Val70=)
3g.122261833C>GCA435424387CASRc.798C>G (p.Val266=)
c.315C>G (p.Val105=)
c.210C>G (p.Val70=)
3g.122261833C>TCA435424388CASRc.798C>T (p.Val266=)
c.315C>T (p.Val105=)
c.210C>T (p.Val70=)
 gnomAD v4
3g.122261834A>CCA354151379CASRc.799A>C (p.Ile267Leu)
c.316A>C (p.Ile106Leu)
c.211A>C (p.Ile71Leu)
3g.122261834A>GCA354151380CASRc.799A>G (p.Ile267Val)
c.316A>G (p.Ile106Val)
c.211A>G (p.Ile71Val)
3g.122261834A>TCA354151381CASRc.799A>T (p.Ile267Phe)
c.316A>T (p.Ile106Phe)
c.211A>T (p.Ile71Phe)
3g.122261835T>ACA354151383CASRc.800T>A (p.Ile267Asn)
c.317T>A (p.Ile106Asn)
c.212T>A (p.Ile71Asn)
3g.122261835T>CCA354151384CASRc.800T>C (p.Ile267Thr)
c.317T>C (p.Ile106Thr)
c.212T>C (p.Ile71Thr)
3g.122261835T>GCA354151382CASRc.800T>G (p.Ile267Ser)
c.317T>G (p.Ile106Ser)
c.212T>G (p.Ile71Ser)
3g.122261836C>ACA2569537CASRc.801C>A (p.Ile267=)
c.318C>A (p.Ile106=)
c.213C>A (p.Ile71=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261836C=CA1397873109CASRc.801C= (p.Ile267=)
c.318C= (p.Ile106=)
c.213C= (p.Ile71=)
3g.122261836C>GCA354151385CASRc.801C>G (p.Ile267Met)
c.318C>G (p.Ile106Met)
c.213C>G (p.Ile71Met)
3g.122261836C>TCA82738553CASRc.801C>T (p.Ile267=)
c.318C>T (p.Ile106=)
c.213C>T (p.Ile71=)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261837G>ACA354151386CASRc.802G>A (p.Val268Met)
c.319G>A (p.Val107Met)
c.214G>A (p.Val72Met)
 ClinVar dbSNP gnomAD v4
3g.122261837G>CCA354151388CASRc.802G>C (p.Val268Leu)
c.319G>C (p.Val107Leu)
c.214G>C (p.Val72Leu)
3g.122261837G=CA1397873111CASRc.802G= (p.Val268=)
c.319G= (p.Val107=)
c.214G= (p.Val72=)
3g.122261837G>TCA354151387CASRc.802G>T (p.Val268Leu)
c.319G>T (p.Val107Leu)
c.214G>T (p.Val72Leu)
 gnomAD v4
3g.122261838T>ACA354151389CASRc.803T>A (p.Val268Glu)
c.320T>A (p.Val107Glu)
c.215T>A (p.Val72Glu)
3g.122261838T>CCA354151390CASRc.803T>C (p.Val268Ala)
c.320T>C (p.Val107Ala)
c.215T>C (p.Val72Ala)
3g.122261838T>GCA354151391CASRc.803T>G (p.Val268Gly)
c.320T>G (p.Val107Gly)
c.215T>G (p.Val72Gly)
3g.122261839G>ACA435424398CASRc.804G>A (p.Val268=)
c.321G>A (p.Val107=)
c.216G>A (p.Val72=)
3g.122261839G>CCA435424401CASRc.804G>C (p.Val268=)
c.321G>C (p.Val107=)
c.216G>C (p.Val72=)
3g.122261839G>TCA435424400CASRc.804G>T (p.Val268=)
c.321G>T (p.Val107=)
c.216G>T (p.Val72=)
3g.122261840_122261850delCA2586972805CASRc.805_815del (p.Val269TrpfsTer5)
c.322_332del (p.Val108TrpfsTer5)
c.217_227del (p.Val73TrpfsTer5)
3g.122261840G>ACA354151392CASRc.805G>A (p.Val269Ile)
c.322G>A (p.Val108Ile)
c.217G>A (p.Val73Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.122261840G>CCA354151393CASRc.805G>C (p.Val269Leu)
c.322G>C (p.Val108Leu)
c.217G>C (p.Val73Leu)
3g.122261840G=CA1397873113CASRc.805G= (p.Val269=)
c.322G= (p.Val108=)
c.217G= (p.Val73=)
3g.122261840G>TCA354151394CASRc.805G>T (p.Val269Phe)
c.322G>T (p.Val108Phe)
c.217G>T (p.Val73Phe)
 dbSNP gnomAD v3 gnomAD v4
3g.122261841T>ACA354151395CASRc.806T>A (p.Val269Asp)
c.323T>A (p.Val108Asp)
c.218T>A (p.Val73Asp)
3g.122261841T>CCA354151396CASRc.806T>C (p.Val269Ala)
c.323T>C (p.Val108Ala)
c.218T>C (p.Val73Ala)
3g.122261841T>GCA354151397CASRc.806T>G (p.Val269Gly)
c.323T>G (p.Val108Gly)
c.218T>G (p.Val73Gly)
3g.122261842T>ACA435424405CASRc.807T>A (p.Val269=)
c.324T>A (p.Val108=)
c.219T>A (p.Val73=)
3g.122261842T>CCA435424406CASRc.807T>C (p.Val269=)
c.324T>C (p.Val108=)
c.219T>C (p.Val73=)
3g.122261842T>GCA435424407CASRc.807T>G (p.Val269=)
c.324T>G (p.Val108=)
c.219T>G (p.Val73=)
3g.122261843T>ACA354151398CASRc.808T>A (p.Phe270Ile)
c.325T>A (p.Phe109Ile)
c.220T>A (p.Phe74Ile)
3g.122261843T>CCA354151399CASRc.808T>C (p.Phe270Leu)
c.325T>C (p.Phe109Leu)
c.220T>C (p.Phe74Leu)
 COSMIC
3g.122261843T>GCA354151400CASRc.808T>G (p.Phe270Val)
c.325T>G (p.Phe109Val)
c.220T>G (p.Phe74Val)
3g.122261844T>ACA354151401CASRc.809T>A (p.Phe270Tyr)
c.326T>A (p.Phe109Tyr)
c.221T>A (p.Phe74Tyr)
 gnomAD v4
3g.122261844T>CCA354151403CASRc.809T>C (p.Phe270Ser)
c.326T>C (p.Phe109Ser)
c.221T>C (p.Phe74Ser)
3g.122261844T>GCA354151402CASRc.809T>G (p.Phe270Cys)
c.326T>G (p.Phe109Cys)
c.221T>G (p.Phe74Cys)
3g.122261845C>ACA354151404CASRc.810C>A (p.Phe270Leu)
c.327C>A (p.Phe109Leu)
c.222C>A (p.Phe74Leu)
 gnomAD v4
3g.122261845C>GCA354151405CASRc.810C>G (p.Phe270Leu)
c.327C>G (p.Phe109Leu)
c.222C>G (p.Phe74Leu)
3g.122261845C>TCA435424410CASRc.810C>T (p.Phe270=)
c.327C>T (p.Phe109=)
c.222C>T (p.Phe74=)
3g.122261846T>ACA354151406CASRc.811T>A (p.Ser271Thr)
c.328T>A (p.Ser110Thr)
c.223T>A (p.Ser75Thr)
3g.122261846T>CCA354151407CASRc.811T>C (p.Ser271Pro)
c.328T>C (p.Ser110Pro)
c.223T>C (p.Ser75Pro)
 ClinVar gnomAD v4
3g.122261846T>GCA354151408CASRc.811T>G (p.Ser271Ala)
c.328T>G (p.Ser110Ala)
c.223T>G (p.Ser75Ala)
3g.122261847C>ACA354151409CASRc.812C>A (p.Ser271Tyr)
c.329C>A (p.Ser110Tyr)
c.224C>A (p.Ser75Tyr)
3g.122261847C>GCA354151410CASRc.812C>G (p.Ser271Cys)
c.329C>G (p.Ser110Cys)
c.224C>G (p.Ser75Cys)
3g.122261847C>TCA354151411CASRc.812C>T (p.Ser271Phe)
c.329C>T (p.Ser110Phe)
c.224C>T (p.Ser75Phe)
 COSMIC
3g.122261848C>ACA2569538CASRc.813C>A (p.Ser271=)
c.330C>A (p.Ser110=)
c.225C>A (p.Ser75=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261848C=CA1397873115CASRc.813C= (p.Ser271=)
c.330C= (p.Ser110=)
c.225C= (p.Ser75=)
3g.122261848C>GCA435424416CASRc.813C>G (p.Ser271=)
c.330C>G (p.Ser110=)
c.225C>G (p.Ser75=)
3g.122261848C>TCA435424418CASRc.813C>T (p.Ser271=)
c.330C>T (p.Ser110=)
c.225C>T (p.Ser75=)
3g.122261849A=CA1397873116CASRc.814A= (p.Ser272=)
c.331A= (p.Ser111=)
c.226A= (p.Ser76=)
3g.122261849A>CCA354151413CASRc.814A>C (p.Ser272Arg)
c.331A>C (p.Ser111Arg)
c.226A>C (p.Ser76Arg)
3g.122261849A>GCA2569539CASRc.814A>G (p.Ser272Gly)
c.331A>G (p.Ser111Gly)
c.226A>G (p.Ser76Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261849A>TCA354151412CASRc.814A>T (p.Ser272Cys)
c.331A>T (p.Ser111Cys)
c.226A>T (p.Ser76Cys)
3g.122261850G>ACA354151414CASRc.815G>A (p.Ser272Asn)
c.332G>A (p.Ser111Asn)
c.227G>A (p.Ser76Asn)
 ClinVar dbSNP
3g.122261850G>CCA354151415CASRc.815G>C (p.Ser272Thr)
c.332G>C (p.Ser111Thr)
c.227G>C (p.Ser76Thr)
3g.122261850G=CA1397873118CASRc.815G= (p.Ser272=)
c.332G= (p.Ser111=)
c.227G= (p.Ser76=)
3g.122261850G>TCA354151416CASRc.815G>T (p.Ser272Ile)
c.332G>T (p.Ser111Ile)
c.227G>T (p.Ser76Ile)
3g.122261851T>ACA354151417CASRc.816T>A (p.Ser272Arg)
c.333T>A (p.Ser111Arg)
c.228T>A (p.Ser76Arg)
 ClinVar dbSNP
3g.122261851T>CCA435424420CASRc.816T>C (p.Ser272=)
c.333T>C (p.Ser111=)
c.228T>C (p.Ser76=)
 ClinVar
3g.122261851T>GCA354151418CASRc.816T>G (p.Ser272Arg)
c.333T>G (p.Ser111Arg)
c.228T>G (p.Ser76Arg)
3g.122261851_122261853delinsTGGCA1397873120CASRc.816_818delinsTGG (p.Ser272=)
c.333_335delinsTGG (p.Ser111=)
c.228_230delinsTGG (p.Ser76=)
3g.122261852G>ACA354151419CASRc.817G>A (p.Gly273Ser)
c.334G>A (p.Gly112Ser)
c.229G>A (p.Gly77Ser)
3g.122261852G>CCA354151420CASRc.817G>C (p.Gly273Arg)
c.334G>C (p.Gly112Arg)
c.229G>C (p.Gly77Arg)
3g.122261852G>TCA354151421CASRc.817G>T (p.Gly273Cys)
c.334G>T (p.Gly112Cys)
c.229G>T (p.Gly77Cys)
3g.122261852_122261853delCA2569540CASRc.817_818del (p.Gly273ProfsTer4)
c.334_335del (p.Gly112ProfsTer4)
c.229_230del (p.Gly77ProfsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261853G>ACA354151422CASRc.818G>A (p.Gly273Asp)
c.335G>A (p.Gly112Asp)
c.230G>A (p.Gly77Asp)
3g.122261853G>CCA354151423CASRc.818G>C (p.Gly273Ala)
c.335G>C (p.Gly112Ala)
c.230G>C (p.Gly77Ala)
 ClinVar dbSNP
3g.122261853G=CA1397873122CASRc.818G= (p.Gly273=)
c.335G= (p.Gly112=)
c.230G= (p.Gly77=)
3g.122261853G>TCA354151424CASRc.818G>T (p.Gly273Val)
c.335G>T (p.Gly112Val)
c.230G>T (p.Gly77Val)
3g.122261854C>ACA435424423CASRc.819C>A (p.Gly273=)
c.336C>A (p.Gly112=)
c.231C>A (p.Gly77=)
3g.122261854C>GCA435424422CASRc.819C>G (p.Gly273=)
c.336C>G (p.Gly112=)
c.231C>G (p.Gly77=)
3g.122261854C>TCA435424421CASRc.819C>T (p.Gly273=)
c.336C>T (p.Gly112=)
c.231C>T (p.Gly77=)
 ClinVar dbSNP gnomAD v4
3g.122261855C>ACA354151427CASRc.820C>A (p.Pro274Thr)
c.337C>A (p.Pro113Thr)
c.232C>A (p.Pro78Thr)
3g.122261855C=CA1397873123CASRc.820C= (p.Pro274=)
c.337C= (p.Pro113=)
c.232C= (p.Pro78=)
3g.122261855C>GCA354151425CASRc.820C>G (p.Pro274Ala)
c.337C>G (p.Pro113Ala)
c.232C>G (p.Pro78Ala)
 ClinVar
3g.122261855C>TCA354151426CASRc.820C>T (p.Pro274Ser)
c.337C>T (p.Pro113Ser)
c.232C>T (p.Pro78Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261856C>ACA354151428CASRc.821C>A (p.Pro274Gln)
c.338C>A (p.Pro113Gln)
c.233C>A (p.Pro78Gln)
3g.122261856C=CA1397873125CASRc.821C= (p.Pro274=)
c.338C= (p.Pro113=)
c.233C= (p.Pro78=)
3g.122261856C>GCA354151429CASRc.821C>G (p.Pro274Arg)
c.338C>G (p.Pro113Arg)
c.233C>G (p.Pro78Arg)
3g.122261856C>TCA82738561CASRc.821C>T (p.Pro274Leu)
c.338C>T (p.Pro113Leu)
c.233C>T (p.Pro78Leu)
 ClinVar dbSNP gnomAD v4
3g.122261856_122261858delinsCAGCA1397873124CASRc.821_823delinsCAG (p.Pro274=)
c.338_340delinsCAG (p.Pro113=)
c.233_235delinsCAG (p.Pro78=)
3g.122261857A=CA1397873128CASRc.822A= (p.Pro274=)
c.339A= (p.Pro113=)
c.234A= (p.Pro78=)
3g.122261857A>CCA435424428CASRc.822A>C (p.Pro274=)
c.339A>C (p.Pro113=)
c.234A>C (p.Pro78=)
 dbSNP
3g.122261857A>GCA435424426CASRc.822A>G (p.Pro274=)
c.339A>G (p.Pro113=)
c.234A>G (p.Pro78=)
3g.122261857A>TCA435424425CASRc.822A>T (p.Pro274=)
c.339A>T (p.Pro113=)
c.234A>T (p.Pro78=)
3g.122261858_122261859delCA658657326CASRc.823_824del (p.Asp275SerfsTer2)
c.340_341del (p.Asp114SerfsTer2)
c.235_236del (p.Asp79SerfsTer2)
 ClinVar dbSNP
3g.122261858G>ACA354151430CASRc.823G>A (p.Asp275Asn)
c.340G>A (p.Asp114Asn)
c.235G>A (p.Asp79Asn)
 COSMIC
3g.122261858G>CCA354151431CASRc.823G>C (p.Asp275His)
c.340G>C (p.Asp114His)
c.235G>C (p.Asp79His)
3g.122261858G=CA1397873130CASRc.823G= (p.Asp275=)
c.340G= (p.Asp114=)
c.235G= (p.Asp79=)
3g.122261858G>TCA354151432CASRc.823G>T (p.Asp275Tyr)
c.340G>T (p.Asp114Tyr)
c.235G>T (p.Asp79Tyr)
 dbSNP gnomAD v3 gnomAD v4
3g.122261859A>CCA354151433CASRc.824A>C (p.Asp275Ala)
c.341A>C (p.Asp114Ala)
c.236A>C (p.Asp79Ala)
3g.122261859A>GCA354151434CASRc.824A>G (p.Asp275Gly)
c.341A>G (p.Asp114Gly)
c.236A>G (p.Asp79Gly)
3g.122261859A>TCA354151435CASRc.824A>T (p.Asp275Val)
c.341A>T (p.Asp114Val)
c.236A>T (p.Asp79Val)
3g.122261860T>ACA354151436CASRc.825T>A (p.Asp275Glu)
c.342T>A (p.Asp114Glu)
c.237T>A (p.Asp79Glu)
3g.122261860T>CCA2569541CASRc.825T>C (p.Asp275=)
c.342T>C (p.Asp114=)
c.237T>C (p.Asp79=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261860T>GCA354151437CASRc.825T>G (p.Asp275Glu)
c.342T>G (p.Asp114Glu)
c.237T>G (p.Asp79Glu)
3g.122261860T=CA1397873131CASRc.825T= (p.Asp275=)
c.342T= (p.Asp114=)
c.237T= (p.Asp79=)
3g.122261861C>ACA354151440CASRc.826C>A (p.Leu276Ile)
c.343C>A (p.Leu115Ile)
c.238C>A (p.Leu80Ile)
 ClinVar gnomAD v4
3g.122261861C>GCA354151439CASRc.826C>G (p.Leu276Val)
c.343C>G (p.Leu115Val)
c.238C>G (p.Leu80Val)
3g.122261861C>TCA354151438CASRc.826C>T (p.Leu276Phe)
c.343C>T (p.Leu115Phe)
c.238C>T (p.Leu80Phe)
 COSMIC
3g.122261862T>ACA354151441CASRc.827T>A (p.Leu276His)
c.344T>A (p.Leu115His)
c.239T>A (p.Leu80His)
3g.122261862T>CCA354151443CASRc.827T>C (p.Leu276Pro)
c.344T>C (p.Leu115Pro)
c.239T>C (p.Leu80Pro)
3g.122261862T>GCA354151442CASRc.827T>G (p.Leu276Arg)
c.344T>G (p.Leu115Arg)
c.239T>G (p.Leu80Arg)
3g.122261863T>ACA435424432CASRc.828T>A (p.Leu276=)
c.345T>A (p.Leu115=)
c.240T>A (p.Leu80=)
3g.122261863T>CCA2569542CASRc.828T>C (p.Leu276=)
c.345T>C (p.Leu115=)
c.240T>C (p.Leu80=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261863T>GCA435424434CASRc.828T>G (p.Leu276=)
c.345T>G (p.Leu115=)
c.240T>G (p.Leu80=)
3g.122261863T=CA1397873133CASRc.828T= (p.Leu276=)
c.345T= (p.Leu115=)
c.240T= (p.Leu80=)
3g.122261864G>ACA82738571CASRc.829G>A (p.Glu277Lys)
c.346G>A (p.Glu116Lys)
c.241G>A (p.Glu81Lys)
 dbSNP
3g.122261864G>CCA82738575CASRc.829G>C (p.Glu277Gln)
c.346G>C (p.Glu116Gln)
c.241G>C (p.Glu81Gln)
 ClinVar dbSNP
3g.122261864G=CA1397873135CASRc.829G= (p.Glu277=)
c.346G= (p.Glu116=)
c.241G= (p.Glu81=)
3g.122261864G>TCA354151444CASRc.829G>T (p.Glu277Ter)
c.346G>T (p.Glu116Ter)
c.241G>T (p.Glu81Ter)
3g.122261865A>CCA354151445CASRc.830A>C (p.Glu277Ala)
c.347A>C (p.Glu116Ala)
c.242A>C (p.Glu81Ala)
3g.122261865A>GCA354151446CASRc.830A>G (p.Glu277Gly)
c.347A>G (p.Glu116Gly)
c.242A>G (p.Glu81Gly)
3g.122261865A>TCA354151447CASRc.830A>T (p.Glu277Val)
c.347A>T (p.Glu116Val)
c.242A>T (p.Glu81Val)
3g.122261866G>ACA435424435CASRc.831G>A (p.Glu277=)
c.348G>A (p.Glu116=)
c.243G>A (p.Glu81=)
 ClinVar dbSNP
3g.122261866G>CCA354151448CASRc.831G>C (p.Glu277Asp)
c.348G>C (p.Glu116Asp)
c.243G>C (p.Glu81Asp)
 ClinVar
3g.122261866G>TCA354151449CASRc.831G>T (p.Glu277Asp)
c.348G>T (p.Glu116Asp)
c.243G>T (p.Glu81Asp)
3g.122261867C>ACA354151450CASRc.832C>A (p.Pro278Thr)
c.349C>A (p.Pro117Thr)
c.244C>A (p.Pro82Thr)
3g.122261867C=CA1397873136CASRc.832C= (p.Pro278=)
c.349C= (p.Pro117=)
c.244C= (p.Pro82=)
3g.122261867C>GCA354151451CASRc.832C>G (p.Pro278Ala)
c.349C>G (p.Pro117Ala)
c.244C>G (p.Pro82Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261867C>TCA354151452CASRc.832C>T (p.Pro278Ser)
c.349C>T (p.Pro117Ser)
c.244C>T (p.Pro82Ser)
3g.122261868C>ACA354151455CASRc.833C>A (p.Pro278His)
c.350C>A (p.Pro117His)
c.245C>A (p.Pro82His)
3g.122261868C>GCA354151453CASRc.833C>G (p.Pro278Arg)
c.350C>G (p.Pro117Arg)
c.245C>G (p.Pro82Arg)
3g.122261868C>TCA354151454CASRc.833C>T (p.Pro278Leu)
c.350C>T (p.Pro117Leu)
c.245C>T (p.Pro82Leu)
 ClinVar COSMIC
3g.122261869C>ACA435424437CASRc.834C>A (p.Pro278=)
c.351C>A (p.Pro117=)
c.246C>A (p.Pro82=)
3g.122261869C>GCA435424438CASRc.834C>G (p.Pro278=)
c.351C>G (p.Pro117=)
c.246C>G (p.Pro82=)
3g.122261869C>TCA435424439CASRc.834C>T (p.Pro278=)
c.351C>T (p.Pro117=)
c.246C>T (p.Pro82=)
 ClinVar
3g.122261870C>ACA354151456CASRc.835C>A (p.Leu279Ile)
c.352C>A (p.Leu118Ile)
c.247C>A (p.Leu83Ile)
3g.122261870C=CA1397873137CASRc.835C= (p.Leu279=)
c.352C= (p.Leu118=)
c.247C= (p.Leu83=)
3g.122261870C>GCA2569543CASRc.835C>G (p.Leu279Val)
c.352C>G (p.Leu118Val)
c.247C>G (p.Leu83Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261870C>TCA354151457CASRc.835C>T (p.Leu279Phe)
c.352C>T (p.Leu118Phe)
c.247C>T (p.Leu83Phe)
 ClinVar
3g.122261871T>ACA354151458CASRc.836T>A (p.Leu279His)
c.353T>A (p.Leu118His)
c.248T>A (p.Leu83His)
3g.122261871T>CCA354151459CASRc.836T>C (p.Leu279Pro)
c.353T>C (p.Leu118Pro)
c.248T>C (p.Leu83Pro)
3g.122261871T>GCA354151460CASRc.836T>G (p.Leu279Arg)
c.353T>G (p.Leu118Arg)
c.248T>G (p.Leu83Arg)
 ClinVar dbSNP
3g.122261871T=CA1397873139CASRc.836T= (p.Leu279=)
c.353T= (p.Leu118=)
c.248T= (p.Leu83=)
3g.122261872C>ACA435424440CASRc.837C>A (p.Leu279=)
c.354C>A (p.Leu118=)
c.249C>A (p.Leu83=)
3g.122261872C>GCA435424441CASRc.837C>G (p.Leu279=)
c.354C>G (p.Leu118=)
c.249C>G (p.Leu83=)
3g.122261872C>TCA435424442CASRc.837C>T (p.Leu279=)
c.354C>T (p.Leu118=)
c.249C>T (p.Leu83=)
3g.122261873A>CCA354151461CASRc.838A>C (p.Ile280Leu)
c.355A>C (p.Ile119Leu)
c.250A>C (p.Ile84Leu)
3g.122261873A>GCA354151462CASRc.838A>G (p.Ile280Val)
c.355A>G (p.Ile119Val)
c.250A>G (p.Ile84Val)
3g.122261873A>TCA354151463CASRc.838A>T (p.Ile280Phe)
c.355A>T (p.Ile119Phe)
c.250A>T (p.Ile84Phe)
3g.122261874T>ACA354151464CASRc.839T>A (p.Ile280Asn)
c.356T>A (p.Ile119Asn)
c.251T>A (p.Ile84Asn)
 ClinVar dbSNP
3g.122261874T>CCA354151465CASRc.839T>C (p.Ile280Thr)
c.356T>C (p.Ile119Thr)
c.251T>C (p.Ile84Thr)
3g.122261874T>GCA354151466CASRc.839T>G (p.Ile280Ser)
c.356T>G (p.Ile119Ser)
c.251T>G (p.Ile84Ser)
3g.122261874T=CA1397873141CASRc.839T= (p.Ile280=)
c.356T= (p.Ile119=)
c.251T= (p.Ile84=)
3g.122261875C>ACA435424444CASRc.840C>A (p.Ile280=)
c.357C>A (p.Ile119=)
c.252C>A (p.Ile84=)
3g.122261875C=CA1397873143CASRc.840C= (p.Ile280=)
c.357C= (p.Ile119=)
c.252C= (p.Ile84=)
3g.122261875C>GCA354151467CASRc.840C>G (p.Ile280Met)
c.357C>G (p.Ile119Met)
c.252C>G (p.Ile84Met)
3g.122261875C>TCA82738581CASRc.840C>T (p.Ile280=)
c.357C>T (p.Ile119=)
c.252C>T (p.Ile84=)
 ClinVar dbSNP gnomAD v4
3g.122261876A>CCA354151468CASRc.841A>C (p.Lys281Gln)
c.358A>C (p.Lys120Gln)
c.253A>C (p.Lys85Gln)
3g.122261876A>GCA354151469CASRc.841A>G (p.Lys281Glu)
c.358A>G (p.Lys120Glu)
c.253A>G (p.Lys85Glu)
3g.122261876A>TCA354151470CASRc.841A>T (p.Lys281Ter)
c.358A>T (p.Lys120Ter)
c.253A>T (p.Lys85Ter)
3g.122261877A>CCA354151471CASRc.842A>C (p.Lys281Thr)
c.359A>C (p.Lys120Thr)
c.254A>C (p.Lys85Thr)
3g.122261877A>GCA354151472CASRc.842A>G (p.Lys281Arg)
c.359A>G (p.Lys120Arg)
c.254A>G (p.Lys85Arg)
3g.122261877A>TCA354151473CASRc.842A>T (p.Lys281Met)
c.359A>T (p.Lys120Met)
c.254A>T (p.Lys85Met)
3g.122261878G>ACA435424447CASRc.843G>A (p.Lys281=)
c.360G>A (p.Lys120=)
c.255G>A (p.Lys85=)
3g.122261878G>CCA354151475CASRc.843G>C (p.Lys281Asn)
c.360G>C (p.Lys120Asn)
c.255G>C (p.Lys85Asn)
3g.122261878G>TCA354151474CASRc.843G>T (p.Lys281Asn)
c.360G>T (p.Lys120Asn)
c.255G>T (p.Lys85Asn)
3g.122261879G>ACA354151476CASRc.844G>A (p.Glu282Lys)
c.361G>A (p.Glu121Lys)
c.256G>A (p.Glu86Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261879G>CCA354151477CASRc.844G>C (p.Glu282Gln)
c.361G>C (p.Glu121Gln)
c.256G>C (p.Glu86Gln)
3g.122261879G=CA1397873145CASRc.844G= (p.Glu282=)
c.361G= (p.Glu121=)
c.256G= (p.Glu86=)
3g.122261879G>TCA354151478CASRc.844G>T (p.Glu282Ter)
c.361G>T (p.Glu121Ter)
c.256G>T (p.Glu86Ter)
3g.122261880A=CA1397873147CASRc.845A= (p.Glu282=)
c.362A= (p.Glu121=)
c.257A= (p.Glu86=)
3g.122261880A>CCA354151479CASRc.845A>C (p.Glu282Ala)
c.362A>C (p.Glu121Ala)
c.257A>C (p.Glu86Ala)
3g.122261880A>GCA2569544CASRc.845A>G (p.Glu282Gly)
c.362A>G (p.Glu121Gly)
c.257A>G (p.Glu86Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261880A>TCA354151480CASRc.845A>T (p.Glu282Val)
c.362A>T (p.Glu121Val)
c.257A>T (p.Glu86Val)
3g.122261881G>ACA82738589CASRc.846G>A (p.Glu282=)
c.363G>A (p.Glu121=)
c.258G>A (p.Glu86=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.122261881G>CCA82738592CASRc.846G>C (p.Glu282Asp)
c.363G>C (p.Glu121Asp)
c.258G>C (p.Glu86Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122261881G=CA1397873150CASRc.846G= (p.Glu282=)
c.363G= (p.Glu121=)
c.258G= (p.Glu86=)
3g.122261881G>TCA354151481CASRc.846G>T (p.Glu282Asp)
c.363G>T (p.Glu121Asp)
c.258G>T (p.Glu86Asp)
3g.122261882A>CCA354151482CASRc.847A>C (p.Ile283Leu)
c.364A>C (p.Ile122Leu)
c.259A>C (p.Ile87Leu)
3g.122261882A>GCA354151483CASRc.847A>G (p.Ile283Val)
c.364A>G (p.Ile122Val)
c.259A>G (p.Ile87Val)
3g.122261882A>TCA354151484CASRc.847A>T (p.Ile283Phe)
c.364A>T (p.Ile122Phe)
c.259A>T (p.Ile87Phe)
3g.122261883T>ACA354151485CASRc.848T>A (p.Ile283Asn)
c.365T>A (p.Ile122Asn)
c.260T>A (p.Ile87Asn)
3g.122261883T>CCA2569545CASRc.848T>C (p.Ile283Thr)
c.365T>C (p.Ile122Thr)
c.260T>C (p.Ile87Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261883T>GCA354151486CASRc.848T>G (p.Ile283Ser)
c.365T>G (p.Ile122Ser)
c.260T>G (p.Ile87Ser)
3g.122261883T=CA1397873152CASRc.848T= (p.Ile283=)
c.365T= (p.Ile122=)
c.260T= (p.Ile87=)
3g.122261884T>ACA435424450CASRc.849T>A (p.Ile283=)
c.366T>A (p.Ile122=)
c.261T>A (p.Ile87=)
 ClinVar
3g.122261884T>CCA435424451CASRc.849T>C (p.Ile283=)
c.366T>C (p.Ile122=)
c.261T>C (p.Ile87=)
 ClinVar dbSNP
3g.122261884T>GCA354151487CASRc.849T>G (p.Ile283Met)
c.366T>G (p.Ile122Met)
c.261T>G (p.Ile87Met)
3g.122261884T=CA1397873154CASRc.849T= (p.Ile283=)
c.366T= (p.Ile122=)
c.261T= (p.Ile87=)
3g.122261885G>ACA354151488CASRc.850G>A (p.Val284Ile)
c.367G>A (p.Val123Ile)
c.262G>A (p.Val88Ile)
 ClinVar
3g.122261885G>CCA354151489CASRc.850G>C (p.Val284Leu)
c.367G>C (p.Val123Leu)
c.262G>C (p.Val88Leu)
3g.122261885G>TCA354151490CASRc.850G>T (p.Val284Phe)
c.367G>T (p.Val123Phe)
c.262G>T (p.Val88Phe)
 gnomAD v4 COSMIC

Number of alleles fetched