Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122261686C>ACA354151050CASRc.651C>A (p.Asp217Glu)
c.168C>A (p.Asp56Glu)
c.63C>A (p.Asp21Glu)
3g.122261686C>GCA354151051CASRc.651C>G (p.Asp217Glu)
c.168C>G (p.Asp56Glu)
c.63C>G (p.Asp21Glu)
3g.122261686C>TCA435424215CASRc.651C>T (p.Asp217=)
c.168C>T (p.Asp56=)
c.63C>T (p.Asp21=)
 dbSNP
3g.122261687T>ACA354151053CASRc.652T>A (p.Tyr218Asn)
c.169T>A (p.Tyr57Asn)
c.64T>A (p.Tyr22Asn)
 ClinVar
3g.122261687T>CCA354151052CASRc.652T>C (p.Tyr218His)
c.169T>C (p.Tyr57His)
c.64T>C (p.Tyr22His)
 ClinVar dbSNP gnomAD v4
3g.122261687T>GCA16604347CASRc.652T>G (p.Tyr218Asp)
c.169T>G (p.Tyr57Asp)
c.64T>G (p.Tyr22Asp)
 ClinVar dbSNP
3g.122261687T=CA1397872979CASRc.652T= (p.Tyr218=)
c.169T= (p.Tyr57=)
c.64T= (p.Tyr22=)
3g.122261688A=CA1397872981CASRc.653A= (p.Tyr218=)
c.170A= (p.Tyr57=)
c.65A= (p.Tyr22=)
3g.122261688A>CCA354151054CASRc.653A>C (p.Tyr218Ser)
c.170A>C (p.Tyr57Ser)
c.65A>C (p.Tyr22Ser)
3g.122261688A>GCA354151055CASRc.653A>G (p.Tyr218Cys)
c.170A>G (p.Tyr57Cys)
c.65A>G (p.Tyr22Cys)
 ClinVar dbSNP gnomAD v4
3g.122261688A>TCA354151056CASRc.653A>T (p.Tyr218Phe)
c.170A>T (p.Tyr57Phe)
c.65A>T (p.Tyr22Phe)
3g.122261689T>ACA354151057CASRc.654T>A (p.Tyr218Ter)
c.171T>A (p.Tyr57Ter)
c.66T>A (p.Tyr22Ter)
3g.122261689T>CCA435424216CASRc.654T>C (p.Tyr218=)
c.171T>C (p.Tyr57=)
c.66T>C (p.Tyr22=)
 ClinVar dbSNP
3g.122261689T>GCA354151058CASRc.654T>G (p.Tyr218Ter)
c.171T>G (p.Tyr57Ter)
c.66T>G (p.Tyr22Ter)
3g.122261689T=CA1397872984CASRc.654T= (p.Tyr218=)
c.171T= (p.Tyr57=)
c.66T= (p.Tyr22=)
3g.122261690G>ACA354151059CASRc.655G>A (p.Gly219Arg)
c.172G>A (p.Gly58Arg)
c.67G>A (p.Gly23Arg)
3g.122261690G>CCA354151060CASRc.655G>C (p.Gly219Arg)
c.172G>C (p.Gly58Arg)
c.67G>C (p.Gly23Arg)
3g.122261690G>TCA354151061CASRc.655G>T (p.Gly219Trp)
c.172G>T (p.Gly58Trp)
c.67G>T (p.Gly23Trp)
 ClinVar dbSNP
3g.122261691G>ACA354151062CASRc.656G>A (p.Gly219Glu)
c.173G>A (p.Gly58Glu)
c.68G>A (p.Gly23Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261691G>CCA354151063CASRc.656G>C (p.Gly219Ala)
c.173G>C (p.Gly58Ala)
c.68G>C (p.Gly23Ala)
3g.122261691G=CA1397872987CASRc.656G= (p.Gly219=)
c.173G= (p.Gly58=)
c.68G= (p.Gly23=)
3g.122261691G>TCA354151064CASRc.656G>T (p.Gly219Val)
c.173G>T (p.Gly58Val)
c.68G>T (p.Gly23Val)
3g.122261692G>ACA2569519CASRc.657G>A (p.Gly219=)
c.174G>A (p.Gly58=)
c.69G>A (p.Gly23=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261692G>CCA435424217CASRc.657G>C (p.Gly219=)
c.174G>C (p.Gly58=)
c.69G>C (p.Gly23=)
3g.122261692G=CA1397872989CASRc.657G= (p.Gly219=)
c.174G= (p.Gly58=)
c.69G= (p.Gly23=)
3g.122261692G>TCA435424218CASRc.657G>T (p.Gly219=)
c.174G>T (p.Gly58=)
c.69G>T (p.Gly23=)
3g.122261693C>ACA435424219CASRc.658C>A (p.Arg220=)
c.175C>A (p.Arg59=)
c.70C>A (p.Arg24=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261693C=CA1397872993CASRc.658C= (p.Arg220=)
c.175C= (p.Arg59=)
c.70C= (p.Arg24=)
3g.122261693C>GCA354151066CASRc.658C>G (p.Arg220Gly)
c.175C>G (p.Arg59Gly)
c.70C>G (p.Arg24Gly)
3g.122261693C>TCA354151065CASRc.658C>T (p.Arg220Trp)
c.175C>T (p.Arg59Trp)
c.70C>T (p.Arg24Trp)
 ClinVar dbSNP gnomAD v2 COSMIC
3g.122261694G>ACA354151067CASRc.659G>A (p.Arg220Gln)
c.176G>A (p.Arg59Gln)
c.71G>A (p.Arg24Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.122261694G>CCA354151068CASRc.659G>C (p.Arg220Pro)
c.176G>C (p.Arg59Pro)
c.71G>C (p.Arg24Pro)
 ClinVar
3g.122261694G=CA1397872996CASRc.659G= (p.Arg220=)
c.176G= (p.Arg59=)
c.71G= (p.Arg24=)
3g.122261694G>TCA354151069CASRc.659G>T (p.Arg220Leu)
c.176G>T (p.Arg59Leu)
c.71G>T (p.Arg24Leu)
3g.122261695G>ACA435424220CASRc.660G>A (p.Arg220=)
c.177G>A (p.Arg59=)
c.72G>A (p.Arg24=)
3g.122261695G>CCA435424222CASRc.660G>C (p.Arg220=)
c.177G>C (p.Arg59=)
c.72G>C (p.Arg24=)
3g.122261695G>TCA435424221CASRc.660G>T (p.Arg220=)
c.177G>T (p.Arg59=)
c.72G>T (p.Arg24=)
 ClinVar gnomAD v4
3g.122261696C>ACA354151070CASRc.661C>A (p.Pro221Thr)
c.178C>A (p.Pro60Thr)
c.73C>A (p.Pro25Thr)
3g.122261696C>GCA354151071CASRc.661C>G (p.Pro221Ala)
c.178C>G (p.Pro60Ala)
c.73C>G (p.Pro25Ala)
3g.122261696C>TCA354151072CASRc.661C>T (p.Pro221Ser)
c.178C>T (p.Pro60Ser)
c.73C>T (p.Pro25Ser)
3g.122261697C>ACA144611CASRc.662C>A (p.Pro221Gln)
c.179C>A (p.Pro60Gln)
c.74C>A (p.Pro25Gln)
 ClinVar dbSNP
3g.122261697C=CA1397872999CASRc.662C= (p.Pro221=)
c.179C= (p.Pro60=)
c.74C= (p.Pro25=)
3g.122261697C>GCA354151073CASRc.662C>G (p.Pro221Arg)
c.179C>G (p.Pro60Arg)
c.74C>G (p.Pro25Arg)
3g.122261697C>TCA144609CASRc.662C>T (p.Pro221Leu)
c.179C>T (p.Pro60Leu)
c.74C>T (p.Pro25Leu)
 ClinVar dbSNP
3g.122261698G>ACA435424223CASRc.663G>A (p.Pro221=)
c.180G>A (p.Pro60=)
c.75G>A (p.Pro25=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261698G>CCA2569520CASRc.663G>C (p.Pro221=)
c.180G>C (p.Pro60=)
c.75G>C (p.Pro25=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261698G=CA1397873002CASRc.663G= (p.Pro221=)
c.180G= (p.Pro60=)
c.75G= (p.Pro25=)
3g.122261698G>TCA435424224CASRc.663G>T (p.Pro221=)
c.180G>T (p.Pro60=)
c.75G>T (p.Pro25=)
3g.122261701delCA645532161CASRc.666del (p.Ile223LeufsTer?)
c.183del (p.Ile62LeufsTer?)
c.78del (p.Ile27LeufsTer?)
 ClinVar dbSNP COSMIC
3g.122261699G>ACA354151076CASRc.664G>A (p.Gly222Arg)
c.181G>A (p.Gly61Arg)
c.76G>A (p.Gly26Arg)
 ClinVar dbSNP gnomAD v4
3g.122261699G>CCA354151075CASRc.664G>C (p.Gly222Arg)
c.181G>C (p.Gly61Arg)
c.76G>C (p.Gly26Arg)
3g.122261699G>TCA354151074CASRc.664G>T (p.Gly222Trp)
c.181G>T (p.Gly61Trp)
c.76G>T (p.Gly26Trp)
3g.122261700G>ACA354151077CASRc.665G>A (p.Gly222Glu)
c.182G>A (p.Gly61Glu)
c.77G>A (p.Gly26Glu)
 ClinVar
3g.122261700G>CCA354151078CASRc.665G>C (p.Gly222Ala)
c.182G>C (p.Gly61Ala)
c.77G>C (p.Gly26Ala)
3g.122261700G>TCA354151079CASRc.665G>T (p.Gly222Val)
c.182G>T (p.Gly61Val)
c.77G>T (p.Gly26Val)
3g.122261701G>ACA435424225CASRc.666G>A (p.Gly222=)
c.183G>A (p.Gly61=)
c.78G>A (p.Gly26=)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261701G>CCA435424226CASRc.666G>C (p.Gly222=)
c.183G>C (p.Gly61=)
c.78G>C (p.Gly26=)
3g.122261701G>TCA435424227CASRc.666G>T (p.Gly222=)
c.183G>T (p.Gly61=)
c.78G>T (p.Gly26=)
 gnomAD v4
3g.122261702A>CCA354151080CASRc.667A>C (p.Ile223Leu)
c.184A>C (p.Ile62Leu)
c.79A>C (p.Ile27Leu)
3g.122261702A>GCA354151081CASRc.667A>G (p.Ile223Val)
c.184A>G (p.Ile62Val)
c.79A>G (p.Ile27Val)
3g.122261702A>TCA354151082CASRc.667A>T (p.Ile223Phe)
c.184A>T (p.Ile62Phe)
c.79A>T (p.Ile27Phe)
3g.122261703T>ACA354151083CASRc.668T>A (p.Ile223Asn)
c.185T>A (p.Ile62Asn)
c.80T>A (p.Ile27Asn)
3g.122261703T>CCA354151084CASRc.668T>C (p.Ile223Thr)
c.185T>C (p.Ile62Thr)
c.80T>C (p.Ile27Thr)
 dbSNP
3g.122261703T>GCA354151085CASRc.668T>G (p.Ile223Ser)
c.185T>G (p.Ile62Ser)
c.80T>G (p.Ile27Ser)
3g.122261703T=CA1397873004CASRc.668T= (p.Ile223=)
c.185T= (p.Ile62=)
c.80T= (p.Ile27=)
3g.122261704T>ACA435424228CASRc.669T>A (p.Ile223=)
c.186T>A (p.Ile62=)
c.81T>A (p.Ile27=)
3g.122261704T>CCA435424229CASRc.669T>C (p.Ile223=)
c.186T>C (p.Ile62=)
c.81T>C (p.Ile27=)
3g.122261704T>GCA354151086CASRc.669T>G (p.Ile223Met)
c.186T>G (p.Ile62Met)
c.81T>G (p.Ile27Met)
3g.122261705G>ACA354151087CASRc.670G>A (p.Glu224Lys)
c.187G>A (p.Glu63Lys)
c.82G>A (p.Glu28Lys)
3g.122261705G>CCA354151088CASRc.670G>C (p.Glu224Gln)
c.187G>C (p.Glu63Gln)
c.82G>C (p.Glu28Gln)
3g.122261705G>TCA354151089CASRc.670G>T (p.Glu224Ter)
c.187G>T (p.Glu63Ter)
c.82G>T (p.Glu28Ter)
3g.122261706A>CCA354151091CASRc.671A>C (p.Glu224Ala)
c.188A>C (p.Glu63Ala)
c.83A>C (p.Glu28Ala)
3g.122261706A>GCA354151092CASRc.671A>G (p.Glu224Gly)
c.188A>G (p.Glu63Gly)
c.83A>G (p.Glu28Gly)
3g.122261706A>TCA354151090CASRc.671A>T (p.Glu224Val)
c.188A>T (p.Glu63Val)
c.83A>T (p.Glu28Val)
3g.122261707G>ACA435424230CASRc.672G>A (p.Glu224=)
c.189G>A (p.Glu63=)
c.84G>A (p.Glu28=)
3g.122261707G>CCA354151094CASRc.672G>C (p.Glu224Asp)
c.189G>C (p.Glu63Asp)
c.84G>C (p.Glu28Asp)
 ClinVar
3g.122261707G>TCA354151093CASRc.672G>T (p.Glu224Asp)
c.189G>T (p.Glu63Asp)
c.84G>T (p.Glu28Asp)
3g.122261708A>CCA354151095CASRc.673A>C (p.Lys225Gln)
c.190A>C (p.Lys64Gln)
c.85A>C (p.Lys29Gln)
3g.122261708A>GCA354151096CASRc.673A>G (p.Lys225Glu)
c.190A>G (p.Lys64Glu)
c.85A>G (p.Lys29Glu)
3g.122261708A>TCA354151097CASRc.673A>T (p.Lys225Ter)
c.190A>T (p.Lys64Ter)
c.85A>T (p.Lys29Ter)
3g.122261709A>CCA354151098CASRc.674A>C (p.Lys225Thr)
c.191A>C (p.Lys64Thr)
c.86A>C (p.Lys29Thr)
3g.122261709A>GCA354151099CASRc.674A>G (p.Lys225Arg)
c.191A>G (p.Lys64Arg)
c.86A>G (p.Lys29Arg)
3g.122261709A>TCA354151100CASRc.674A>T (p.Lys225Ile)
c.191A>T (p.Lys64Ile)
c.86A>T (p.Lys29Ile)
3g.122261710A=CA1397873006CASRc.675A= (p.Lys225=)
c.192A= (p.Lys64=)
c.87A= (p.Lys29=)
3g.122261710A>CCA354151101CASRc.675A>C (p.Lys225Asn)
c.192A>C (p.Lys64Asn)
c.87A>C (p.Lys29Asn)
3g.122261710A>GCA82738347CASRc.675A>G (p.Lys225=)
c.192A>G (p.Lys64=)
c.87A>G (p.Lys29=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261710A>TCA354151102CASRc.675A>T (p.Lys225Asn)
c.192A>T (p.Lys64Asn)
c.87A>T (p.Lys29Asn)
3g.122261711T>ACA354151103CASRc.676T>A (p.Phe226Ile)
c.193T>A (p.Phe65Ile)
c.88T>A (p.Phe30Ile)
3g.122261711T>CCA354151104CASRc.676T>C (p.Phe226Leu)
c.193T>C (p.Phe65Leu)
c.88T>C (p.Phe30Leu)
3g.122261711T>GCA354151105CASRc.676T>G (p.Phe226Val)
c.193T>G (p.Phe65Val)
c.88T>G (p.Phe30Val)
3g.122261712T>ACA354151106CASRc.677T>A (p.Phe226Tyr)
c.194T>A (p.Phe65Tyr)
c.89T>A (p.Phe30Tyr)
3g.122261712T>CCA354151108CASRc.677T>C (p.Phe226Ser)
c.194T>C (p.Phe65Ser)
c.89T>C (p.Phe30Ser)
3g.122261712T>GCA354151107CASRc.677T>G (p.Phe226Cys)
c.194T>G (p.Phe65Cys)
c.89T>G (p.Phe30Cys)
3g.122261713C>ACA354151109CASRc.678C>A (p.Phe226Leu)
c.195C>A (p.Phe65Leu)
c.90C>A (p.Phe30Leu)
3g.122261713C>GCA354151110CASRc.678C>G (p.Phe226Leu)
c.195C>G (p.Phe65Leu)
c.90C>G (p.Phe30Leu)
3g.122261713C>TCA435424231CASRc.678C>T (p.Phe226=)
c.195C>T (p.Phe65=)
c.90C>T (p.Phe30=)
 dbSNP gnomAD v4 COSMIC
3g.122261714C>ACA435424232CASRc.679C>A (p.Arg227=)
c.196C>A (p.Arg66=)
c.91C>A (p.Arg31=)
 dbSNP gnomAD v2
3g.122261714C=CA1397873008CASRc.679C= (p.Arg227=)
c.196C= (p.Arg66=)
c.91C= (p.Arg31=)
3g.122261714C>GCA354151111CASRc.679C>G (p.Arg227Gly)
c.196C>G (p.Arg66Gly)
c.91C>G (p.Arg31Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261714C>TCA354151112CASRc.679C>T (p.Arg227Ter)
c.196C>T (p.Arg66Ter)
c.91C>T (p.Arg31Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261715G>ACA212891CASRc.680G>A (p.Arg227Gln)
c.197G>A (p.Arg66Gln)
c.92G>A (p.Arg31Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122261715G>CCA354151113CASRc.680G>C (p.Arg227Pro)
c.197G>C (p.Arg66Pro)
c.92G>C (p.Arg31Pro)
3g.122261715G=CA1397873011CASRc.680G= (p.Arg227=)
c.197G= (p.Arg66=)
c.92G= (p.Arg31=)
3g.122261715G>TCA119475CASRc.680G>T (p.Arg227Leu)
c.197G>T (p.Arg66Leu)
c.92G>T (p.Arg31Leu)
 ClinVar dbSNP
3g.122261716A=CA1397873014CASRc.681A= (p.Arg227=)
c.198A= (p.Arg66=)
c.93A= (p.Arg31=)
3g.122261716A>CCA435424234CASRc.681A>C (p.Arg227=)
c.198A>C (p.Arg66=)
c.93A>C (p.Arg31=)
3g.122261716A>GCA2569521CASRc.681A>G (p.Arg227=)
c.198A>G (p.Arg66=)
c.93A>G (p.Arg31=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261716A>TCA435424233CASRc.681A>T (p.Arg227=)
c.198A>T (p.Arg66=)
c.93A>T (p.Arg31=)
3g.122261717G>ACA354151114CASRc.682G>A (p.Glu228Lys)
c.199G>A (p.Glu67Lys)
c.94G>A (p.Glu32Lys)
3g.122261717G>CCA354151115CASRc.682G>C (p.Glu228Gln)
c.199G>C (p.Glu67Gln)
c.94G>C (p.Glu32Gln)
 ClinVar
3g.122261717G>TCA354151116CASRc.682G>T (p.Glu228Ter)
c.199G>T (p.Glu67Ter)
c.94G>T (p.Glu32Ter)
3g.122261718A>CCA354151118CASRc.683A>C (p.Glu228Ala)
c.200A>C (p.Glu67Ala)
c.95A>C (p.Glu32Ala)
3g.122261718A>GCA354151119CASRc.683A>G (p.Glu228Gly)
c.200A>G (p.Glu67Gly)
c.95A>G (p.Glu32Gly)
3g.122261718A>TCA354151117CASRc.683A>T (p.Glu228Val)
c.200A>T (p.Glu67Val)
c.95A>T (p.Glu32Val)
3g.122261719G>ACA435424235CASRc.684G>A (p.Glu228=)
c.201G>A (p.Glu67=)
c.96G>A (p.Glu32=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261719G>CCA354151120CASRc.684G>C (p.Glu228Asp)
c.201G>C (p.Glu67Asp)
c.96G>C (p.Glu32Asp)
3g.122261719G=CA1397873015CASRc.684G= (p.Glu228=)
c.201G= (p.Glu67=)
c.96G= (p.Glu32=)
3g.122261719G>TCA354151121CASRc.684G>T (p.Glu228Asp)
c.201G>T (p.Glu67Asp)
c.96G>T (p.Glu32Asp)
 gnomAD v4
3g.122261720G>ACA354151122CASRc.685G>A (p.Glu229Lys)
c.202G>A (p.Glu68Lys)
c.97G>A (p.Glu33Lys)
3g.122261720G>CCA354151123CASRc.685G>C (p.Glu229Gln)
c.202G>C (p.Glu68Gln)
c.97G>C (p.Glu33Gln)
3g.122261720G>TCA354151124CASRc.685G>T (p.Glu229Ter)
c.202G>T (p.Glu68Ter)
c.97G>T (p.Glu33Ter)
3g.122261721A=CA1397873017CASRc.686A= (p.Glu229=)
c.203A= (p.Glu68=)
c.98A= (p.Glu33=)
3g.122261721A>CCA354151125CASRc.686A>C (p.Glu229Ala)
c.203A>C (p.Glu68Ala)
c.98A>C (p.Glu33Ala)
 ClinVar dbSNP
3g.122261721A>GCA354151126CASRc.686A>G (p.Glu229Gly)
c.203A>G (p.Glu68Gly)
c.98A>G (p.Glu33Gly)
3g.122261721A>TCA354151127CASRc.686A>T (p.Glu229Val)
c.203A>T (p.Glu68Val)
c.98A>T (p.Glu33Val)
3g.122261722A=CA1397873018CASRc.687A= (p.Glu229=)
c.204A= (p.Glu68=)
c.99A= (p.Glu33=)
3g.122261722A>CCA354151128CASRc.687A>C (p.Glu229Asp)
c.204A>C (p.Glu68Asp)
c.99A>C (p.Glu33Asp)
3g.122261722A>GCA435424236CASRc.687A>G (p.Glu229=)
c.204A>G (p.Glu68=)
c.99A>G (p.Glu33=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261722A>TCA354151129CASRc.687A>T (p.Glu229Asp)
c.204A>T (p.Glu68Asp)
c.99A>T (p.Glu33Asp)
3g.122261723G>ACA354151130CASRc.688G>A (p.Ala230Thr)
c.205G>A (p.Ala69Thr)
c.100G>A (p.Ala34Thr)
 ClinVar
3g.122261723G>CCA354151131CASRc.688G>C (p.Ala230Pro)
c.205G>C (p.Ala69Pro)
c.100G>C (p.Ala34Pro)
3g.122261723G>TCA354151132CASRc.688G>T (p.Ala230Ser)
c.205G>T (p.Ala69Ser)
c.100G>T (p.Ala34Ser)
3g.122261724C>ACA354151135CASRc.689C>A (p.Ala230Asp)
c.206C>A (p.Ala69Asp)
c.101C>A (p.Ala34Asp)
3g.122261724C>GCA354151134CASRc.689C>G (p.Ala230Gly)
c.206C>G (p.Ala69Gly)
c.101C>G (p.Ala34Gly)
3g.122261724C>TCA354151133CASRc.689C>T (p.Ala230Val)
c.206C>T (p.Ala69Val)
c.101C>T (p.Ala34Val)
 ClinVar dbSNP
3g.122261725T>ACA435424237CASRc.690T>A (p.Ala230=)
c.207T>A (p.Ala69=)
c.102T>A (p.Ala34=)
3g.122261725T>CCA435424238CASRc.690T>C (p.Ala230=)
c.207T>C (p.Ala69=)
c.102T>C (p.Ala34=)
3g.122261725T>GCA435424239CASRc.690T>G (p.Ala230=)
c.207T>G (p.Ala69=)
c.102T>G (p.Ala34=)
3g.122261726G>ACA354151136CASRc.691G>A (p.Glu231Lys)
c.208G>A (p.Glu70Lys)
c.103G>A (p.Glu35Lys)
 ClinVar dbSNP
3g.122261726G>CCA354151137CASRc.691G>C (p.Glu231Gln)
c.208G>C (p.Glu70Gln)
c.103G>C (p.Glu35Gln)
3g.122261726G>TCA354151138CASRc.691G>T (p.Glu231Ter)
c.208G>T (p.Glu70Ter)
c.103G>T (p.Glu35Ter)
3g.122261727A>CCA354151139CASRc.692A>C (p.Glu231Ala)
c.209A>C (p.Glu70Ala)
c.104A>C (p.Glu35Ala)
3g.122261727A>GCA354151140CASRc.692A>G (p.Glu231Gly)
c.209A>G (p.Glu70Gly)
c.104A>G (p.Glu35Gly)
3g.122261727A>TCA354151141CASRc.692A>T (p.Glu231Val)
c.209A>T (p.Glu70Val)
c.104A>T (p.Glu35Val)
3g.122261728G>ACA435424240CASRc.693G>A (p.Glu231=)
c.210G>A (p.Glu70=)
c.105G>A (p.Glu35=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261728G>CCA354151142CASRc.693G>C (p.Glu231Asp)
c.210G>C (p.Glu70Asp)
c.105G>C (p.Glu35Asp)
3g.122261728G=CA1397873020CASRc.693G= (p.Glu231=)
c.210G= (p.Glu70=)
c.105G= (p.Glu35=)
3g.122261728G>TCA354151143CASRc.693G>T (p.Glu231Asp)
c.210G>T (p.Glu70Asp)
c.105G>T (p.Glu35Asp)
3g.122261729G>ACA354151144CASRc.694G>A (p.Glu232Lys)
c.211G>A (p.Glu71Lys)
c.106G>A (p.Glu36Lys)
 COSMIC
3g.122261729G>CCA354151145CASRc.694G>C (p.Glu232Gln)
c.211G>C (p.Glu71Gln)
c.106G>C (p.Glu36Gln)
3g.122261729G>TCA354151146CASRc.694G>T (p.Glu232Ter)
c.211G>T (p.Glu71Ter)
c.106G>T (p.Glu36Ter)
3g.122261730A>CCA354151147CASRc.695A>C (p.Glu232Ala)
c.212A>C (p.Glu71Ala)
c.107A>C (p.Glu36Ala)
3g.122261730A>GCA354151148CASRc.695A>G (p.Glu232Gly)
c.212A>G (p.Glu71Gly)
c.107A>G (p.Glu36Gly)
 COSMIC
3g.122261730A>TCA354151149CASRc.695A>T (p.Glu232Val)
c.212A>T (p.Glu71Val)
c.107A>T (p.Glu36Val)
3g.122261731A>CCA354151151CASRc.696A>C (p.Glu232Asp)
c.213A>C (p.Glu71Asp)
c.108A>C (p.Glu36Asp)
3g.122261731A>GCA435424241CASRc.696A>G (p.Glu232=)
c.213A>G (p.Glu71=)
c.108A>G (p.Glu36=)
3g.122261731A>TCA354151150CASRc.696A>T (p.Glu232Asp)
c.213A>T (p.Glu71Asp)
c.108A>T (p.Glu36Asp)
3g.122261732A>CCA435424242CASRc.697A>C (p.Arg233=)
c.214A>C (p.Arg72=)
c.109A>C (p.Arg37=)
3g.122261732A>GCA354151152CASRc.697A>G (p.Arg233Gly)
c.214A>G (p.Arg72Gly)
c.109A>G (p.Arg37Gly)
3g.122261732A>TCA354151153CASRc.697A>T (p.Arg233Trp)
c.214A>T (p.Arg72Trp)
c.109A>T (p.Arg37Trp)
3g.122261733G>ACA354151154CASRc.698G>A (p.Arg233Lys)
c.215G>A (p.Arg72Lys)
c.110G>A (p.Arg37Lys)
3g.122261733G>CCA354151155CASRc.698G>C (p.Arg233Thr)
c.215G>C (p.Arg72Thr)
c.110G>C (p.Arg37Thr)
3g.122261733G>TCA354151156CASRc.698G>T (p.Arg233Met)
c.215G>T (p.Arg72Met)
c.110G>T (p.Arg37Met)
3g.122261733_122261734insACTTGAATTGATTCTTGTTGCTGACA2551792682CASRc.698_699insACTTGAATTGATTCTTGTTGCTGA (p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu)
c.215_216insACTTGAATTGATTCTTGTTGCTGA (p.Arg72_Asp73insLeuGluLeuIleLeuValAlaGlu)
c.110_111insACTTGAATTGATTCTTGTTGCTGA (p.Arg37_Asp38insLeuGluLeuIleLeuValAlaGlu)
3g.122261734G>ACA435424243CASRc.699G>A (p.Arg233=)
c.216G>A (p.Arg72=)
c.111G>A (p.Arg37=)
 ClinVar COSMIC
3g.122261734G>CCA354151157CASRc.699G>C (p.Arg233Ser)
c.216G>C (p.Arg72Ser)
c.111G>C (p.Arg37Ser)
3g.122261734G>TCA354151158CASRc.699G>T (p.Arg233Ser)
c.216G>T (p.Arg72Ser)
c.111G>T (p.Arg37Ser)
3g.122261735G>ACA354151161CASRc.700G>A (p.Asp234Asn)
c.217G>A (p.Asp73Asn)
c.112G>A (p.Asp38Asn)
3g.122261735G>CCA354151159CASRc.700G>C (p.Asp234His)
c.217G>C (p.Asp73His)
c.112G>C (p.Asp38His)
3g.122261735G>TCA354151160CASRc.700G>T (p.Asp234Tyr)
c.217G>T (p.Asp73Tyr)
c.112G>T (p.Asp38Tyr)
 gnomAD v4
3g.122261736A=CA1397873021CASRc.701A= (p.Asp234=)
c.218A= (p.Asp73=)
c.113A= (p.Asp38=)
3g.122261736A>CCA354151162CASRc.701A>C (p.Asp234Ala)
c.218A>C (p.Asp73Ala)
c.113A>C (p.Asp38Ala)
3g.122261736A>GCA354151163CASRc.701A>G (p.Asp234Gly)
c.218A>G (p.Asp73Gly)
c.113A>G (p.Asp38Gly)
 gnomAD v4
3g.122261736A>TCA354151164CASRc.701A>T (p.Asp234Val)
c.218A>T (p.Asp73Val)
c.113A>T (p.Asp38Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261737T>ACA354151165CASRc.702T>A (p.Asp234Glu)
c.219T>A (p.Asp73Glu)
c.114T>A (p.Asp38Glu)
3g.122261737T>CCA435424244CASRc.702T>C (p.Asp234=)
c.219T>C (p.Asp73=)
c.114T>C (p.Asp38=)
3g.122261737T>GCA354151166CASRc.702T>G (p.Asp234Glu)
c.219T>G (p.Asp73Glu)
c.114T>G (p.Asp38Glu)
3g.122261738A>CCA354151169CASRc.703A>C (p.Ile235Leu)
c.220A>C (p.Ile74Leu)
c.115A>C (p.Ile39Leu)
3g.122261738A>GCA354151167CASRc.703A>G (p.Ile235Val)
c.220A>G (p.Ile74Val)
c.115A>G (p.Ile39Val)
 ClinVar dbSNP
3g.122261738A>TCA354151168CASRc.703A>T (p.Ile235Phe)
c.220A>T (p.Ile74Phe)
c.115A>T (p.Ile39Phe)
3g.122261739delCA2586972802CASRc.704del (p.Ile235ThrfsTer22)
c.221del (p.Ile74ThrfsTer22)
c.116del (p.Ile39ThrfsTer22)
3g.122261739T>ACA354151170CASRc.704T>A (p.Ile235Asn)
c.221T>A (p.Ile74Asn)
c.116T>A (p.Ile39Asn)
3g.122261739T>CCA354151171CASRc.704T>C (p.Ile235Thr)
c.221T>C (p.Ile74Thr)
c.116T>C (p.Ile39Thr)
3g.122261739T>GCA354151172CASRc.704T>G (p.Ile235Ser)
c.221T>G (p.Ile74Ser)
c.116T>G (p.Ile39Ser)
3g.122261740C>ACA2569522CASRc.705C>A (p.Ile235=)
c.222C>A (p.Ile74=)
c.117C>A (p.Ile39=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261740C=CA1397873023CASRc.705C= (p.Ile235=)
c.222C= (p.Ile74=)
c.117C= (p.Ile39=)
3g.122261740C>GCA2569523CASRc.705C>G (p.Ile235Met)
c.222C>G (p.Ile74Met)
c.117C>G (p.Ile39Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261740C>TCA435424245CASRc.705C>T (p.Ile235=)
c.222C>T (p.Ile74=)
c.117C>T (p.Ile39=)
3g.122261742_122261750delCA2586972803CASRc.707_715del (p.Cys236_Asp238del)
c.224_232del (p.Cys75_Asp77del)
c.119_127del (p.Cys40_Asp42del)
3g.122261741T>ACA354151173CASRc.706T>A (p.Cys236Ser)
c.223T>A (p.Cys75Ser)
c.118T>A (p.Cys40Ser)
 ClinVar
3g.122261741T>CCA354151174CASRc.706T>C (p.Cys236Arg)
c.223T>C (p.Cys75Arg)
c.118T>C (p.Cys40Arg)
3g.122261741T>GCA354151175CASRc.706T>G (p.Cys236Gly)
c.223T>G (p.Cys75Gly)
c.118T>G (p.Cys40Gly)
3g.122261742G>ACA16042472CASRc.707G>A (p.Cys236Tyr)
c.224G>A (p.Cys75Tyr)
c.119G>A (p.Cys40Tyr)
 ClinVar dbSNP
3g.122261742G>CCA354151176CASRc.707G>C (p.Cys236Ser)
c.224G>C (p.Cys75Ser)
c.119G>C (p.Cys40Ser)
3g.122261742G=CA1397873025CASRc.707G= (p.Cys236=)
c.224G= (p.Cys75=)
c.119G= (p.Cys40=)
3g.122261742G>TCA354151177CASRc.707G>T (p.Cys236Phe)
c.224G>T (p.Cys75Phe)
c.119G>T (p.Cys40Phe)
 ClinVar dbSNP
3g.122261743C>ACA354151178CASRc.708C>A (p.Cys236Ter)
c.225C>A (p.Cys75Ter)
c.120C>A (p.Cys40Ter)
3g.122261743C>GCA354151179CASRc.708C>G (p.Cys236Trp)
c.225C>G (p.Cys75Trp)
c.120C>G (p.Cys40Trp)
3g.122261743C>TCA435424246CASRc.708C>T (p.Cys236=)
c.225C>T (p.Cys75=)
c.120C>T (p.Cys40=)
3g.122261744A>CCA354151182CASRc.709A>C (p.Ile237Leu)
c.226A>C (p.Ile76Leu)
c.121A>C (p.Ile41Leu)
3g.122261744A>GCA354151180CASRc.709A>G (p.Ile237Val)
c.226A>G (p.Ile76Val)
c.121A>G (p.Ile41Val)
3g.122261744A>TCA354151181CASRc.709A>T (p.Ile237Phe)
c.226A>T (p.Ile76Phe)
c.121A>T (p.Ile41Phe)
3g.122261745T>ACA354151183CASRc.710T>A (p.Ile237Asn)
c.227T>A (p.Ile76Asn)
c.122T>A (p.Ile41Asn)
3g.122261745T>CCA354151184CASRc.710T>C (p.Ile237Thr)
c.227T>C (p.Ile76Thr)
c.122T>C (p.Ile41Thr)
3g.122261745T>GCA354151185CASRc.710T>G (p.Ile237Ser)
c.227T>G (p.Ile76Ser)
c.122T>G (p.Ile41Ser)
3g.122261746C>ACA435424247CASRc.711C>A (p.Ile237=)
c.228C>A (p.Ile76=)
c.123C>A (p.Ile41=)
3g.122261746C=CA1397873028CASRc.711C= (p.Ile237=)
c.228C= (p.Ile76=)
c.123C= (p.Ile41=)
3g.122261746C>GCA354151186CASRc.711C>G (p.Ile237Met)
c.228C>G (p.Ile76Met)
c.123C>G (p.Ile41Met)
 ClinVar
3g.122261746C>TCA2569524CASRc.711C>T (p.Ile237=)
c.228C>T (p.Ile76=)
c.123C>T (p.Ile41=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122261747G>ACA2569525CASRc.712G>A (p.Asp238Asn)
c.229G>A (p.Asp77Asn)
c.124G>A (p.Asp42Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261747G>CCA354151187CASRc.712G>C (p.Asp238His)
c.229G>C (p.Asp77His)
c.124G>C (p.Asp42His)
 ClinVar dbSNP
3g.122261747G=CA1397873031CASRc.712G= (p.Asp238=)
c.229G= (p.Asp77=)
c.124G= (p.Asp42=)
3g.122261747G>TCA354151188CASRc.712G>T (p.Asp238Tyr)
c.229G>T (p.Asp77Tyr)
c.124G>T (p.Asp42Tyr)
3g.122261748A>CCA354151189CASRc.713A>C (p.Asp238Ala)
c.230A>C (p.Asp77Ala)
c.125A>C (p.Asp42Ala)
3g.122261748A>GCA354151190CASRc.713A>G (p.Asp238Gly)
c.230A>G (p.Asp77Gly)
c.125A>G (p.Asp42Gly)
3g.122261748A>TCA354151191CASRc.713A>T (p.Asp238Val)
c.230A>T (p.Asp77Val)
c.125A>T (p.Asp42Val)
3g.122261749C>ACA354151192CASRc.714C>A (p.Asp238Glu)
c.231C>A (p.Asp77Glu)
c.126C>A (p.Asp42Glu)
3g.122261749C>GCA354151193CASRc.714C>G (p.Asp238Glu)
c.231C>G (p.Asp77Glu)
c.126C>G (p.Asp42Glu)
3g.122261749C>TCA435424248CASRc.714C>T (p.Asp238=)
c.231C>T (p.Asp77=)
c.126C>T (p.Asp42=)
 ClinVar gnomAD v4
3g.122261750T>ACA354151196CASRc.715T>A (p.Phe239Ile)
c.232T>A (p.Phe78Ile)
c.127T>A (p.Phe43Ile)
3g.122261750T>CCA354151195CASRc.715T>C (p.Phe239Leu)
c.232T>C (p.Phe78Leu)
c.127T>C (p.Phe43Leu)
3g.122261750T>GCA354151194CASRc.715T>G (p.Phe239Val)
c.232T>G (p.Phe78Val)
c.127T>G (p.Phe43Val)
 ClinVar
3g.122261751T>ACA354151197CASRc.716T>A (p.Phe239Tyr)
c.233T>A (p.Phe78Tyr)
c.128T>A (p.Phe43Tyr)
3g.122261751T>CCA354151198CASRc.716T>C (p.Phe239Ser)
c.233T>C (p.Phe78Ser)
c.128T>C (p.Phe43Ser)
3g.122261751T>GCA354151199CASRc.716T>G (p.Phe239Cys)
c.233T>G (p.Phe78Cys)
c.128T>G (p.Phe43Cys)
3g.122261752C>ACA354151200CASRc.717C>A (p.Phe239Leu)
c.234C>A (p.Phe78Leu)
c.129C>A (p.Phe43Leu)
3g.122261752C>GCA354151201CASRc.717C>G (p.Phe239Leu)
c.234C>G (p.Phe78Leu)
c.129C>G (p.Phe43Leu)
3g.122261752C>TCA435424249CASRc.717C>T (p.Phe239=)
c.234C>T (p.Phe78=)
c.129C>T (p.Phe43=)
 ClinVar dbSNP
3g.122261753A=CA1397873035CASRc.718A= (p.Ser240=)
c.235A= (p.Ser79=)
c.130A= (p.Ser44=)
3g.122261753A>CCA354151202CASRc.718A>C (p.Ser240Arg)
c.235A>C (p.Ser79Arg)
c.130A>C (p.Ser44Arg)
3g.122261753A>GCA82738383CASRc.718A>G (p.Ser240Gly)
c.235A>G (p.Ser79Gly)
c.130A>G (p.Ser44Gly)
 ClinVar dbSNP gnomAD v4
3g.122261753A>TCA354151203CASRc.718A>T (p.Ser240Cys)
c.235A>T (p.Ser79Cys)
c.130A>T (p.Ser44Cys)
3g.122261754G>ACA354151204CASRc.719G>A (p.Ser240Asn)
c.236G>A (p.Ser79Asn)
c.131G>A (p.Ser44Asn)
3g.122261754G>CCA2569526CASRc.719G>C (p.Ser240Thr)
c.236G>C (p.Ser79Thr)
c.131G>C (p.Ser44Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261754G=CA1397873036CASRc.719G= (p.Ser240=)
c.236G= (p.Ser79=)
c.131G= (p.Ser44=)
3g.122261754G>TCA354151205CASRc.719G>T (p.Ser240Ile)
c.236G>T (p.Ser79Ile)
c.131G>T (p.Ser44Ile)
3g.122261755T>ACA354151206CASRc.720T>A (p.Ser240Arg)
c.237T>A (p.Ser79Arg)
c.132T>A (p.Ser44Arg)
3g.122261755T>CCA435424250CASRc.720T>C (p.Ser240=)
c.237T>C (p.Ser79=)
c.132T>C (p.Ser44=)
 ClinVar gnomAD v4
3g.122261755T>GCA354151207CASRc.720T>G (p.Ser240Arg)
c.237T>G (p.Ser79Arg)
c.132T>G (p.Ser44Arg)
3g.122261756delCA2740094560CASRc.721del (p.Glu241AsnfsTer16)
c.238del (p.Glu80AsnfsTer16)
c.133del (p.Glu45AsnfsTer16)
 ClinVar
3g.122261756G>ACA354151209CASRc.721G>A (p.Glu241Lys)
c.238G>A (p.Glu80Lys)
c.133G>A (p.Glu45Lys)
 ClinVar dbSNP
3g.122261756G>CCA354151210CASRc.721G>C (p.Glu241Gln)
c.238G>C (p.Glu80Gln)
c.133G>C (p.Glu45Gln)
3g.122261756G>TCA354151208CASRc.721G>T (p.Glu241Ter)
c.238G>T (p.Glu80Ter)
c.133G>T (p.Glu45Ter)
3g.122261757A>CCA354151211CASRc.722A>C (p.Glu241Ala)
c.239A>C (p.Glu80Ala)
c.134A>C (p.Glu45Ala)
3g.122261757A>GCA354151213CASRc.722A>G (p.Glu241Gly)
c.239A>G (p.Glu80Gly)
c.134A>G (p.Glu45Gly)
3g.122261757A>TCA354151212CASRc.722A>T (p.Glu241Val)
c.239A>T (p.Glu80Val)
c.134A>T (p.Glu45Val)
 COSMIC
3g.122261758A>CCA354151214CASRc.723A>C (p.Glu241Asp)
c.240A>C (p.Glu80Asp)
c.135A>C (p.Glu45Asp)
3g.122261758A>GCA435424251CASRc.723A>G (p.Glu241=)
c.240A>G (p.Glu80=)
c.135A>G (p.Glu45=)
 gnomAD v4
3g.122261758A>TCA354151215CASRc.723A>T (p.Glu241Asp)
c.240A>T (p.Glu80Asp)
c.135A>T (p.Glu45Asp)
3g.122261759C>ACA354151216CASRc.724C>A (p.Leu242Ile)
c.241C>A (p.Leu81Ile)
c.136C>A (p.Leu46Ile)
3g.122261759C>GCA354151217CASRc.724C>G (p.Leu242Val)
c.241C>G (p.Leu81Val)
c.136C>G (p.Leu46Val)
3g.122261759C>TCA354151218CASRc.724C>T (p.Leu242Phe)
c.241C>T (p.Leu81Phe)
c.136C>T (p.Leu46Phe)
3g.122261760T>ACA354151219CASRc.725T>A (p.Leu242His)
c.242T>A (p.Leu81His)
c.137T>A (p.Leu46His)
3g.122261760T>CCA354151220CASRc.725T>C (p.Leu242Pro)
c.242T>C (p.Leu81Pro)
c.137T>C (p.Leu46Pro)
 ClinVar dbSNP
3g.122261760T>GCA16617815CASRc.725T>G (p.Leu242Arg)
c.242T>G (p.Leu81Arg)
c.137T>G (p.Leu46Arg)
 ClinVar dbSNP
3g.122261760T=CA1397873038CASRc.725T= (p.Leu242=)
c.242T= (p.Leu81=)
c.137T= (p.Leu46=)
3g.122261761C>ACA435424252CASRc.726C>A (p.Leu242=)
c.243C>A (p.Leu81=)
c.138C>A (p.Leu46=)
3g.122261761C=CA1397873039CASRc.726C= (p.Leu242=)
c.243C= (p.Leu81=)
c.138C= (p.Leu46=)
3g.122261761C>GCA435424253CASRc.726C>G (p.Leu242=)
c.243C>G (p.Leu81=)
c.138C>G (p.Leu46=)
3g.122261761C>TCA435424254CASRc.726C>T (p.Leu242=)
c.243C>T (p.Leu81=)
c.138C>T (p.Leu46=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261762A=CA1397873040CASRc.727A= (p.Ile243=)
c.244A= (p.Ile82=)
c.139A= (p.Ile47=)
3g.122261762A>CCA354151221CASRc.727A>C (p.Ile243Leu)
c.244A>C (p.Ile82Leu)
c.139A>C (p.Ile47Leu)
 ClinVar dbSNP gnomAD v2
3g.122261762A>GCA354151222CASRc.727A>G (p.Ile243Val)
c.244A>G (p.Ile82Val)
c.139A>G (p.Ile47Val)
 ClinVar
3g.122261762A>TCA354151223CASRc.727A>T (p.Ile243Phe)
c.244A>T (p.Ile82Phe)
c.139A>T (p.Ile47Phe)
3g.122261763T>ACA354151226CASRc.728T>A (p.Ile243Asn)
c.245T>A (p.Ile82Asn)
c.140T>A (p.Ile47Asn)
3g.122261763T>CCA354151225CASRc.728T>C (p.Ile243Thr)
c.245T>C (p.Ile82Thr)
c.140T>C (p.Ile47Thr)
3g.122261763T>GCA354151224CASRc.728T>G (p.Ile243Ser)
c.245T>G (p.Ile82Ser)
c.140T>G (p.Ile47Ser)
3g.122261764C>ACA435424267CASRc.729C>A (p.Ile243=)
c.246C>A (p.Ile82=)
c.141C>A (p.Ile47=)
3g.122261764C>GCA354151227CASRc.729C>G (p.Ile243Met)
c.246C>G (p.Ile82Met)
c.141C>G (p.Ile47Met)
 ClinVar
3g.122261764C>TCA435424265CASRc.729C>T (p.Ile243=)
c.246C>T (p.Ile82=)
c.141C>T (p.Ile47=)
 ClinVar dbSNP gnomAD v4
3g.122261765T>ACA354151228CASRc.730T>A (p.Ser244Thr)
c.247T>A (p.Ser83Thr)
c.142T>A (p.Ser48Thr)
3g.122261765T>CCA354151229CASRc.730T>C (p.Ser244Pro)
c.247T>C (p.Ser83Pro)
c.142T>C (p.Ser48Pro)
3g.122261765T>GCA354151230CASRc.730T>G (p.Ser244Ala)
c.247T>G (p.Ser83Ala)
c.142T>G (p.Ser48Ala)
3g.122261765_122261766delinsTCCA1397873042CASRc.730_731delinsTC (p.Ser244=)
c.247_248delinsTC (p.Ser83=)
c.142_143delinsTC (p.Ser48=)
3g.122261766C>ACA354151231CASRc.731C>A (p.Ser244Tyr)
c.248C>A (p.Ser83Tyr)
c.143C>A (p.Ser48Tyr)
3g.122261766C>GCA354151232CASRc.731C>G (p.Ser244Cys)
c.248C>G (p.Ser83Cys)
c.143C>G (p.Ser48Cys)
3g.122261766C>TCA354151233CASRc.731C>T (p.Ser244Phe)
c.248C>T (p.Ser83Phe)
c.143C>T (p.Ser48Phe)
 COSMIC
3g.122261768delCA1397873043CASRc.733del (p.Gln245SerfsTer12)
c.250del (p.Gln84SerfsTer12)
c.145del (p.Gln49SerfsTer12)
 dbSNP
3g.122261767C>ACA435424271CASRc.732C>A (p.Ser244=)
c.249C>A (p.Ser83=)
c.144C>A (p.Ser48=)
3g.122261767C=CA1397873044CASRc.732C= (p.Ser244=)
c.249C= (p.Ser83=)
c.144C= (p.Ser48=)
3g.122261767C>GCA435424272CASRc.732C>G (p.Ser244=)
c.249C>G (p.Ser83=)
c.144C>G (p.Ser48=)
 COSMIC
3g.122261767C>TCA435424273CASRc.732C>T (p.Ser244=)
c.249C>T (p.Ser83=)
c.144C>T (p.Ser48=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261768C>ACA354151234CASRc.733C>A (p.Gln245Lys)
c.250C>A (p.Gln84Lys)
c.145C>A (p.Gln49Lys)
 COSMIC
3g.122261768C=CA1397873046CASRc.733C= (p.Gln245=)
c.250C= (p.Gln84=)
c.145C= (p.Gln49=)
3g.122261768C>GCA354151235CASRc.733C>G (p.Gln245Glu)
c.250C>G (p.Gln84Glu)
c.145C>G (p.Gln49Glu)
3g.122261768C>TCA354151236CASRc.733C>T (p.Gln245Ter)
c.250C>T (p.Gln84Ter)
c.145C>T (p.Gln49Ter)
 ClinVar dbSNP
3g.122261769A>CCA354151237CASRc.734A>C (p.Gln245Pro)
c.251A>C (p.Gln84Pro)
c.146A>C (p.Gln49Pro)
 gnomAD v4
3g.122261769A>GCA354151238CASRc.734A>G (p.Gln245Arg)
c.251A>G (p.Gln84Arg)
c.146A>G (p.Gln49Arg)
 ClinVar
3g.122261769A>TCA354151239CASRc.734A>T (p.Gln245Leu)
c.251A>T (p.Gln84Leu)
c.146A>T (p.Gln49Leu)
3g.122261770G>ACA435424274CASRc.735G>A (p.Gln245=)
c.252G>A (p.Gln84=)
c.147G>A (p.Gln49=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122261770G>CCA354151240CASRc.735G>C (p.Gln245His)
c.252G>C (p.Gln84His)
c.147G>C (p.Gln49His)
3g.122261770G=CA1397873048CASRc.735G= (p.Gln245=)
c.252G= (p.Gln84=)
c.147G= (p.Gln49=)
3g.122261770G>TCA354151241CASRc.735G>T (p.Gln245His)
c.252G>T (p.Gln84His)
c.147G>T (p.Gln49His)
3g.122261771T>ACA354151242CASRc.736T>A (p.Tyr246Asn)
c.253T>A (p.Tyr85Asn)
c.148T>A (p.Tyr50Asn)
3g.122261771T>CCA354151243CASRc.736T>C (p.Tyr246His)
c.253T>C (p.Tyr85His)
c.148T>C (p.Tyr50His)
3g.122261771T>GCA354151244CASRc.736T>G (p.Tyr246Asp)
c.253T>G (p.Tyr85Asp)
c.148T>G (p.Tyr50Asp)
3g.122261772A>CCA354151245CASRc.737A>C (p.Tyr246Ser)
c.254A>C (p.Tyr85Ser)
c.149A>C (p.Tyr50Ser)
3g.122261772A>GCA354151246CASRc.737A>G (p.Tyr246Cys)
c.254A>G (p.Tyr85Cys)
c.149A>G (p.Tyr50Cys)
3g.122261772A>TCA354151247CASRc.737A>T (p.Tyr246Phe)
c.254A>T (p.Tyr85Phe)
c.149A>T (p.Tyr50Phe)
3g.122261773C>ACA354151248CASRc.738C>A (p.Tyr246Ter)
c.255C>A (p.Tyr85Ter)
c.150C>A (p.Tyr50Ter)
3g.122261773C=CA1397873050CASRc.738C= (p.Tyr246=)
c.255C= (p.Tyr85=)
c.150C= (p.Tyr50=)
3g.122261773C>GCA82738393CASRc.738C>G (p.Tyr246Ter)
c.255C>G (p.Tyr85Ter)
c.150C>G (p.Tyr50Ter)
 dbSNP
3g.122261773C>TCA82738398CASRc.738C>T (p.Tyr246=)
c.255C>T (p.Tyr85=)
c.150C>T (p.Tyr50=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261774T>ACA354151249CASRc.739T>A (p.Ser247Thr)
c.256T>A (p.Ser86Thr)
c.151T>A (p.Ser51Thr)
3g.122261774T>CCA82738406CASRc.739T>C (p.Ser247Pro)
c.256T>C (p.Ser86Pro)
c.151T>C (p.Ser51Pro)
 dbSNP gnomAD v4
3g.122261774T>GCA354151250CASRc.739T>G (p.Ser247Ala)
c.256T>G (p.Ser86Ala)
c.151T>G (p.Ser51Ala)
3g.122261774T=CA1397873053CASRc.739T= (p.Ser247=)
c.256T= (p.Ser86=)
c.151T= (p.Ser51=)
3g.122261775C>ACA354151251CASRc.740C>A (p.Ser247Tyr)
c.257C>A (p.Ser86Tyr)
c.152C>A (p.Ser51Tyr)
3g.122261775C=CA1397873055CASRc.740C= (p.Ser247=)
c.257C= (p.Ser86=)
c.152C= (p.Ser51=)
3g.122261775C>GCA354151252CASRc.740C>G (p.Ser247Cys)
c.257C>G (p.Ser86Cys)
c.152C>G (p.Ser51Cys)
3g.122261775C>TCA216140CASRc.740C>T (p.Ser247Phe)
c.257C>T (p.Ser86Phe)
c.152C>T (p.Ser51Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261776T>ACA435424279CASRc.741T>A (p.Ser247=)
c.258T>A (p.Ser86=)
c.153T>A (p.Ser51=)
3g.122261776T>CCA435424280CASRc.741T>C (p.Ser247=)
c.258T>C (p.Ser86=)
c.153T>C (p.Ser51=)
3g.122261776T>GCA435424281CASRc.741T>G (p.Ser247=)
c.258T>G (p.Ser86=)
c.153T>G (p.Ser51=)
3g.122261776dupCA2586972804CASRc.741dup (p.Asp248Ter)
c.258dup (p.Asp87Ter)
c.153dup (p.Asp52Ter)
 ClinVar gnomAD v4
3g.122261777G>ACA354151253CASRc.742G>A (p.Asp248Asn)
c.259G>A (p.Asp87Asn)
c.154G>A (p.Asp52Asn)
 gnomAD v4 COSMIC
3g.122261777G>CCA354151255CASRc.742G>C (p.Asp248His)
c.259G>C (p.Asp87His)
c.154G>C (p.Asp52His)
 COSMIC
3g.122261777G>TCA354151254CASRc.742G>T (p.Asp248Tyr)
c.259G>T (p.Asp87Tyr)
c.154G>T (p.Asp52Tyr)
3g.122261778A>CCA354151256CASRc.743A>C (p.Asp248Ala)
c.260A>C (p.Asp87Ala)
c.155A>C (p.Asp52Ala)
3g.122261778A>GCA354151257CASRc.743A>G (p.Asp248Gly)
c.260A>G (p.Asp87Gly)
c.155A>G (p.Asp52Gly)
3g.122261778A>TCA354151258CASRc.743A>T (p.Asp248Val)
c.260A>T (p.Asp87Val)
c.155A>T (p.Asp52Val)
3g.122261779T>ACA354151259CASRc.744T>A (p.Asp248Glu)
c.261T>A (p.Asp87Glu)
c.156T>A (p.Asp52Glu)
 gnomAD v4
3g.122261779T>CCA435424285CASRc.744T>C (p.Asp248=)
c.261T>C (p.Asp87=)
c.156T>C (p.Asp52=)
3g.122261779T>GCA354151260CASRc.744T>G (p.Asp248Glu)
c.261T>G (p.Asp87Glu)
c.156T>G (p.Asp52Glu)
3g.122261779_122261782delinsTGAGCA1397873057CASRc.744_747delinsTGAG (p.Asp248=)
c.261_264delinsTGAG (p.Asp87=)
c.156_159delinsTGAG (p.Asp52=)
3g.122261780G>ACA354151261CASRc.745G>A (p.Glu249Lys)
c.262G>A (p.Glu88Lys)
c.157G>A (p.Glu53Lys)
3g.122261780G>CCA354151262CASRc.745G>C (p.Glu249Gln)
c.262G>C (p.Glu88Gln)
c.157G>C (p.Glu53Gln)
3g.122261780G>TCA354151263CASRc.745G>T (p.Glu249Ter)
c.262G>T (p.Glu88Ter)
c.157G>T (p.Glu53Ter)
3g.122261782_122261784delCA1397873058CASRc.747_749del (p.Glu250del)
c.264_266del (p.Glu89del)
c.159_161del (p.Glu54del)
 ClinVar dbSNP
3g.122261781A>CCA354151264CASRc.746A>C (p.Glu249Ala)
c.263A>C (p.Glu88Ala)
c.158A>C (p.Glu53Ala)
3g.122261781A>GCA354151265CASRc.746A>G (p.Glu249Gly)
c.263A>G (p.Glu88Gly)
c.158A>G (p.Glu53Gly)
3g.122261781A>TCA354151266CASRc.746A>T (p.Glu249Val)
c.263A>T (p.Glu88Val)
c.158A>T (p.Glu53Val)
 ClinVar
3g.122261782G>ACA2569527CASRc.747G>A (p.Glu249=)
c.264G>A (p.Glu88=)
c.159G>A (p.Glu53=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261782G>CCA354151268CASRc.747G>C (p.Glu249Asp)
c.264G>C (p.Glu88Asp)
c.159G>C (p.Glu53Asp)
3g.122261782G=CA1397873059CASRc.747G= (p.Glu249=)
c.264G= (p.Glu88=)
c.159G= (p.Glu53=)
3g.122261782G>TCA354151267CASRc.747G>T (p.Glu249Asp)
c.264G>T (p.Glu88Asp)
c.159G>T (p.Glu53Asp)
3g.122261783G>ACA202250CASRc.748G>A (p.Glu250Lys)
c.265G>A (p.Glu89Lys)
c.160G>A (p.Glu54Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261783G>CCA354151270CASRc.748G>C (p.Glu250Gln)
c.265G>C (p.Glu89Gln)
c.160G>C (p.Glu54Gln)
3g.122261783G=CA1397873061CASRc.748G= (p.Glu250=)
c.265G= (p.Glu89=)
c.160G= (p.Glu54=)
3g.122261783G>TCA354151269CASRc.748G>T (p.Glu250Ter)
c.265G>T (p.Glu89Ter)
c.160G>T (p.Glu54Ter)
3g.122261784A=CA1397873064CASRc.749A= (p.Glu250=)
c.266A= (p.Glu89=)
c.161A= (p.Glu54=)
3g.122261784A>CCA354151271CASRc.749A>C (p.Glu250Ala)
c.266A>C (p.Glu89Ala)
c.161A>C (p.Glu54Ala)
3g.122261784A>GCA354151272CASRc.749A>G (p.Glu250Gly)
c.266A>G (p.Glu89Gly)
c.161A>G (p.Glu54Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261784A>TCA354151273CASRc.749A>T (p.Glu250Val)
c.266A>T (p.Glu89Val)
c.161A>T (p.Glu54Val)
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)

Number of alleles fetched