Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122261947G>ACA435424566CASRc.912G>A (p.Leu304=)
c.429G>A (p.Leu143=)
c.324G>A (p.Leu108=)
3g.122261947G>CCA435424568CASRc.912G>C (p.Leu304=)
c.429G>C (p.Leu143=)
c.324G>C (p.Leu108=)
3g.122261947G>TCA435424569CASRc.912G>T (p.Leu304=)
c.429G>T (p.Leu143=)
c.324G>T (p.Leu108=)
3g.122261948A=CA1397873219CASRc.913A= (p.Ile305=)
c.430A= (p.Ile144=)
c.325A= (p.Ile109=)
3g.122261948A>CCA354151620CASRc.913A>C (p.Ile305Leu)
c.430A>C (p.Ile144Leu)
c.325A>C (p.Ile109Leu)
3g.122261948A>GCA2569559CASRc.913A>G (p.Ile305Val)
c.430A>G (p.Ile144Val)
c.325A>G (p.Ile109Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.122261948A>TCA354151621CASRc.913A>T (p.Ile305Phe)
c.430A>T (p.Ile144Phe)
c.325A>T (p.Ile109Phe)
 gnomAD v4
3g.122261949T>ACA354151622CASRc.914T>A (p.Ile305Asn)
c.431T>A (p.Ile144Asn)
c.326T>A (p.Ile109Asn)
3g.122261949T>CCA354151623CASRc.914T>C (p.Ile305Thr)
c.431T>C (p.Ile144Thr)
c.326T>C (p.Ile109Thr)
3g.122261949T>GCA354151624CASRc.914T>G (p.Ile305Ser)
c.431T>G (p.Ile144Ser)
c.326T>G (p.Ile109Ser)
3g.122261950C>ACA2569560CASRc.915C>A (p.Ile305=)
c.432C>A (p.Ile144=)
c.327C>A (p.Ile109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261950C=CA1397873221CASRc.915C= (p.Ile305=)
c.432C= (p.Ile144=)
c.327C= (p.Ile109=)
3g.122261950C>GCA354151625CASRc.915C>G (p.Ile305Met)
c.432C>G (p.Ile144Met)
c.327C>G (p.Ile109Met)
 dbSNP gnomAD v4
3g.122261950C>TCA435424576CASRc.915C>T (p.Ile305=)
c.432C>T (p.Ile144=)
c.327C>T (p.Ile109=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122261951G>ACA354151626CASRc.916G>A (p.Ala306Thr)
c.433G>A (p.Ala145Thr)
c.328G>A (p.Ala110Thr)
 ClinVar dbSNP gnomAD v4
3g.122261951G>CCA354151627CASRc.916G>C (p.Ala306Pro)
c.433G>C (p.Ala145Pro)
c.328G>C (p.Ala110Pro)
 ClinVar gnomAD v4
3g.122261951G=CA1397873225CASRc.916G= (p.Ala306=)
c.433G= (p.Ala145=)
c.328G= (p.Ala110=)
3g.122261951G>TCA354151628CASRc.916G>T (p.Ala306Ser)
c.433G>T (p.Ala145Ser)
c.328G>T (p.Ala110Ser)
 ClinVar dbSNP
3g.122261952C>ACA354151629CASRc.917C>A (p.Ala306Asp)
c.434C>A (p.Ala145Asp)
c.329C>A (p.Ala110Asp)
3g.122261952C>GCA354151630CASRc.917C>G (p.Ala306Gly)
c.434C>G (p.Ala145Gly)
c.329C>G (p.Ala110Gly)
3g.122261952C>TCA354151631CASRc.917C>T (p.Ala306Val)
c.434C>T (p.Ala145Val)
c.329C>T (p.Ala110Val)
 gnomAD v4
3g.122261953C>ACA435424580CASRc.918C>A (p.Ala306=)
c.435C>A (p.Ala145=)
c.330C>A (p.Ala110=)
3g.122261953C>GCA435424581CASRc.918C>G (p.Ala306=)
c.435C>G (p.Ala145=)
c.330C>G (p.Ala110=)
3g.122261953C>TCA435424582CASRc.918C>T (p.Ala306=)
c.435C>T (p.Ala145=)
c.330C>T (p.Ala110=)
3g.122261954A=CA1397873227CASRc.919A= (p.Met307=)
c.436A= (p.Met146=)
c.331A= (p.Met111=)
3g.122261954A>CCA354151634CASRc.919A>C (p.Met307Leu)
c.436A>C (p.Met146Leu)
c.331A>C (p.Met111Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261954A>GCA354151633CASRc.919A>G (p.Met307Val)
c.436A>G (p.Met146Val)
c.331A>G (p.Met111Val)
 ClinVar gnomAD v4
3g.122261954A>TCA354151632CASRc.919A>T (p.Met307Leu)
c.436A>T (p.Met146Leu)
c.331A>T (p.Met111Leu)
3g.122261955T>ACA354151635CASRc.920T>A (p.Met307Lys)
c.437T>A (p.Met146Lys)
c.332T>A (p.Met111Lys)
3g.122261955T>CCA216142CASRc.920T>C (p.Met307Thr)
c.437T>C (p.Met146Thr)
c.332T>C (p.Met111Thr)
 ClinVar dbSNP
3g.122261955T>GCA354151636CASRc.920T>G (p.Met307Arg)
c.437T>G (p.Met146Arg)
c.332T>G (p.Met111Arg)
3g.122261955T=CA1397873229CASRc.920T= (p.Met307=)
c.437T= (p.Met146=)
c.332T= (p.Met111=)
3g.122261956G>ACA2569561CASRc.921G>A (p.Met307Ile)
c.438G>A (p.Met146Ile)
c.333G>A (p.Met111Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261956G>CCA354151637CASRc.921G>C (p.Met307Ile)
c.438G>C (p.Met146Ile)
c.333G>C (p.Met111Ile)
3g.122261956G=CA1397873231CASRc.921G= (p.Met307=)
c.438G= (p.Met146=)
c.333G= (p.Met111=)
3g.122261956G>TCA354151638CASRc.921G>T (p.Met307Ile)
c.438G>T (p.Met146Ile)
c.333G>T (p.Met111Ile)
3g.122261957C>ACA354151639CASRc.922C>A (p.Pro308Thr)
c.439C>A (p.Pro147Thr)
c.334C>A (p.Pro112Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.122261957C=CA1397873233CASRc.922C= (p.Pro308=)
c.439C= (p.Pro147=)
c.334C= (p.Pro112=)
3g.122261957C>GCA354151640CASRc.922C>G (p.Pro308Ala)
c.439C>G (p.Pro147Ala)
c.334C>G (p.Pro112Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.122261957C>TCA354151641CASRc.922C>T (p.Pro308Ser)
c.439C>T (p.Pro147Ser)
c.334C>T (p.Pro112Ser)
3g.122261958C>ACA354151642CASRc.923C>A (p.Pro308His)
c.440C>A (p.Pro147His)
c.335C>A (p.Pro112His)
3g.122261958C=CA1397873235CASRc.923C= (p.Pro308=)
c.440C= (p.Pro147=)
c.335C= (p.Pro112=)
3g.122261958C>GCA354151643CASRc.923C>G (p.Pro308Arg)
c.440C>G (p.Pro147Arg)
c.335C>G (p.Pro112Arg)
3g.122261958C>TCA2569562CASRc.923C>T (p.Pro308Leu)
c.440C>T (p.Pro147Leu)
c.335C>T (p.Pro112Leu)
 dbSNP ExAC gnomAD v2
3g.122261959_122261960dupCA2499216410CASRc.924_925dup (p.Gln309LeufsTer15)
c.441_442dup (p.Gln148LeufsTer15)
c.336_337dup (p.Gln113LeufsTer15)
 ClinVar dbSNP
3g.122261959T>ACA435424604CASRc.924T>A (p.Pro308=)
c.441T>A (p.Pro147=)
c.336T>A (p.Pro112=)
3g.122261959T>CCA435424605CASRc.924T>C (p.Pro308=)
c.441T>C (p.Pro147=)
c.336T>C (p.Pro112=)
3g.122261959T>GCA435424602CASRc.924T>G (p.Pro308=)
c.441T>G (p.Pro147=)
c.336T>G (p.Pro112=)
3g.122261960C>ACA354151646CASRc.925C>A (p.Gln309Lys)
c.442C>A (p.Gln148Lys)
c.337C>A (p.Gln113Lys)
3g.122261960C=CA1397873236CASRc.925C= (p.Gln309=)
c.442C= (p.Gln148=)
c.337C= (p.Gln113=)
3g.122261960C>GCA354151645CASRc.925C>G (p.Gln309Glu)
c.442C>G (p.Gln148Glu)
c.337C>G (p.Gln113Glu)
3g.122261960C>TCA354151644CASRc.925C>T (p.Gln309Ter)
c.442C>T (p.Gln148Ter)
c.337C>T (p.Gln113Ter)
 dbSNP gnomAD v2 gnomAD v4
3g.122261961A=CA1397873238CASRc.926A= (p.Gln309=)
c.443A= (p.Gln148=)
c.338A= (p.Gln113=)
3g.122261961A>CCA354151649CASRc.926A>C (p.Gln309Pro)
c.443A>C (p.Gln148Pro)
c.338A>C (p.Gln113Pro)
 ClinVar dbSNP gnomAD v4
3g.122261961A>GCA354151647CASRc.926A>G (p.Gln309Arg)
c.443A>G (p.Gln148Arg)
c.338A>G (p.Gln113Arg)
3g.122261961A>TCA354151648CASRc.926A>T (p.Gln309Leu)
c.443A>T (p.Gln148Leu)
c.338A>T (p.Gln113Leu)
 ClinVar dbSNP gnomAD v4
3g.122261962G>ACA435424608CASRc.927G>A (p.Gln309=)
c.444G>A (p.Gln148=)
c.339G>A (p.Gln113=)
3g.122261962G>CCA354151650CASRc.927G>C (p.Gln309His)
c.444G>C (p.Gln148His)
c.339G>C (p.Gln113His)
3g.122261962G>TCA354151651CASRc.927G>T (p.Gln309His)
c.444G>T (p.Gln148His)
c.339G>T (p.Gln113His)
3g.122261963T>ACA354151652CASRc.928T>A (p.Tyr310Asn)
c.445T>A (p.Tyr149Asn)
c.340T>A (p.Tyr114Asn)
3g.122261963T>CCA354151653CASRc.928T>C (p.Tyr310His)
c.445T>C (p.Tyr149His)
c.340T>C (p.Tyr114His)
3g.122261963T>GCA354151654CASRc.928T>G (p.Tyr310Asp)
c.445T>G (p.Tyr149Asp)
c.340T>G (p.Tyr114Asp)
3g.122261964A=CA1397873240CASRc.929A= (p.Tyr310=)
c.446A= (p.Tyr149=)
c.341A= (p.Tyr114=)
3g.122261964A>CCA354151655CASRc.929A>C (p.Tyr310Ser)
c.446A>C (p.Tyr149Ser)
c.341A>C (p.Tyr114Ser)
3g.122261964A>GCA354151656CASRc.929A>G (p.Tyr310Cys)
c.446A>G (p.Tyr149Cys)
c.341A>G (p.Tyr114Cys)
 ClinVar dbSNP
3g.122261964A>TCA82738659CASRc.929A>T (p.Tyr310Phe)
c.446A>T (p.Tyr149Phe)
c.341A>T (p.Tyr114Phe)
 dbSNP
3g.122261965C>ACA354151657CASRc.930C>A (p.Tyr310Ter)
c.447C>A (p.Tyr149Ter)
c.342C>A (p.Tyr114Ter)
3g.122261965C=CA1397873242CASRc.930C= (p.Tyr310=)
c.447C= (p.Tyr149=)
c.342C= (p.Tyr114=)
3g.122261965C>GCA354151658CASRc.930C>G (p.Tyr310Ter)
c.447C>G (p.Tyr149Ter)
c.342C>G (p.Tyr114Ter)
3g.122261965C>TCA2569563CASRc.930C>T (p.Tyr310=)
c.447C>T (p.Tyr149=)
c.342C>T (p.Tyr114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261966T>ACA354151661CASRc.931T>A (p.Phe311Ile)
c.448T>A (p.Phe150Ile)
c.343T>A (p.Phe115Ile)
3g.122261966T>CCA354151659CASRc.931T>C (p.Phe311Leu)
c.448T>C (p.Phe150Leu)
c.343T>C (p.Phe115Leu)
3g.122261966T>GCA354151660CASRc.931T>G (p.Phe311Val)
c.448T>G (p.Phe150Val)
c.343T>G (p.Phe115Val)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261967T>ACA354151662CASRc.932T>A (p.Phe311Tyr)
c.449T>A (p.Phe150Tyr)
c.344T>A (p.Phe115Tyr)
3g.122261967T>CCA354151663CASRc.932T>C (p.Phe311Ser)
c.449T>C (p.Phe150Ser)
c.344T>C (p.Phe115Ser)
 gnomAD v4
3g.122261967T>GCA354151664CASRc.932T>G (p.Phe311Cys)
c.449T>G (p.Phe150Cys)
c.344T>G (p.Phe115Cys)
3g.122261968C>ACA354151665CASRc.933C>A (p.Phe311Leu)
c.450C>A (p.Phe150Leu)
c.345C>A (p.Phe115Leu)
 ClinVar
3g.122261968C>GCA354151666CASRc.933C>G (p.Phe311Leu)
c.450C>G (p.Phe150Leu)
c.345C>G (p.Phe115Leu)
3g.122261968C>TCA435424629CASRc.933C>T (p.Phe311=)
c.450C>T (p.Phe150=)
c.345C>T (p.Phe115=)
3g.122261969C>ACA354151667CASRc.934C>A (p.His312Asn)
c.451C>A (p.His151Asn)
c.346C>A (p.His116Asn)
3g.122261969C>GCA354151668CASRc.934C>G (p.His312Asp)
c.451C>G (p.His151Asp)
c.346C>G (p.His116Asp)
3g.122261969C>TCA354151669CASRc.934C>T (p.His312Tyr)
c.451C>T (p.His151Tyr)
c.346C>T (p.His116Tyr)
3g.122261970A>CCA354151670CASRc.935A>C (p.His312Pro)
c.452A>C (p.His151Pro)
c.347A>C (p.His116Pro)
3g.122261970A>GCA354151671CASRc.935A>G (p.His312Arg)
c.452A>G (p.His151Arg)
c.347A>G (p.His116Arg)
3g.122261970A>TCA354151672CASRc.935A>T (p.His312Leu)
c.452A>T (p.His151Leu)
c.347A>T (p.His116Leu)
3g.122261971C>ACA354151673CASRc.936C>A (p.His312Gln)
c.453C>A (p.His151Gln)
c.348C>A (p.His116Gln)
3g.122261971C=CA1397873244CASRc.936C= (p.His312=)
c.453C= (p.His151=)
c.348C= (p.His116=)
3g.122261971C>GCA354151675CASRc.936C>G (p.His312Gln)
c.453C>G (p.His151Gln)
c.348C>G (p.His116Gln)
 ClinVar dbSNP gnomAD v4
3g.122261971C>TCA435424634CASRc.936C>T (p.His312=)
c.453C>T (p.His151=)
c.348C>T (p.His116=)
 ClinVar dbSNP gnomAD v4
3g.122261972G>ACA82738662CASRc.937G>A (p.Val313Met)
c.454G>A (p.Val152Met)
c.349G>A (p.Val117Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261972G>CCA354151679CASRc.937G>C (p.Val313Leu)
c.454G>C (p.Val152Leu)
c.349G>C (p.Val117Leu)
 ClinVar gnomAD v4
3g.122261972G=CA1397873246CASRc.937G= (p.Val313=)
c.454G= (p.Val152=)
c.349G= (p.Val117=)
3g.122261972G>TCA354151677CASRc.937G>T (p.Val313Leu)
c.454G>T (p.Val152Leu)
c.349G>T (p.Val117Leu)
3g.122261973T>ACA354151680CASRc.938T>A (p.Val313Glu)
c.455T>A (p.Val152Glu)
c.350T>A (p.Val117Glu)
 ClinVar
3g.122261973T>CCA354151683CASRc.938T>C (p.Val313Ala)
c.455T>C (p.Val152Ala)
c.350T>C (p.Val117Ala)
 ClinVar
3g.122261973T>GCA354151681CASRc.938T>G (p.Val313Gly)
c.455T>G (p.Val152Gly)
c.350T>G (p.Val117Gly)
3g.122261974G>ACA2569564CASRc.939G>A (p.Val313=)
c.456G>A (p.Val152=)
c.351G>A (p.Val117=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261974G>CCA435424641CASRc.939G>C (p.Val313=)
c.456G>C (p.Val152=)
c.351G>C (p.Val117=)
3g.122261974G=CA1397873248CASRc.939G= (p.Val313=)
c.456G= (p.Val152=)
c.351G= (p.Val117=)
3g.122261974G>TCA435424642CASRc.939G>T (p.Val313=)
c.456G>T (p.Val152=)
c.351G>T (p.Val117=)
3g.122261975G>ACA354151686CASRc.940G>A (p.Val314Ile)
c.457G>A (p.Val153Ile)
c.352G>A (p.Val118Ile)
3g.122261975G>CCA354151688CASRc.940G>C (p.Val314Leu)
c.457G>C (p.Val153Leu)
c.352G>C (p.Val118Leu)
3g.122261975G>TCA354151690CASRc.940G>T (p.Val314Phe)
c.457G>T (p.Val153Phe)
c.352G>T (p.Val118Phe)
3g.122261976T>ACA354151691CASRc.941T>A (p.Val314Asp)
c.458T>A (p.Val153Asp)
c.353T>A (p.Val118Asp)
3g.122261976T>CCA354151693CASRc.941T>C (p.Val314Ala)
c.458T>C (p.Val153Ala)
c.353T>C (p.Val118Ala)
3g.122261976T>GCA354151695CASRc.941T>G (p.Val314Gly)
c.458T>G (p.Val153Gly)
c.353T>G (p.Val118Gly)
3g.122261977T>ACA435424646CASRc.942T>A (p.Val314=)
c.459T>A (p.Val153=)
c.354T>A (p.Val118=)
3g.122261977T>CCA435424647CASRc.942T>C (p.Val314=)
c.459T>C (p.Val153=)
c.354T>C (p.Val118=)
 ClinVar dbSNP
3g.122261977T>GCA435424648CASRc.942T>G (p.Val314=)
c.459T>G (p.Val153=)
c.354T>G (p.Val118=)
 ClinVar
3g.122261978G>ACA354151697CASRc.943G>A (p.Gly315Ser)
c.460G>A (p.Gly154Ser)
c.355G>A (p.Gly119Ser)
3g.122261978G>CCA354151699CASRc.943G>C (p.Gly315Arg)
c.460G>C (p.Gly154Arg)
c.355G>C (p.Gly119Arg)
3g.122261978G>TCA354151702CASRc.943G>T (p.Gly315Cys)
c.460G>T (p.Gly154Cys)
c.355G>T (p.Gly119Cys)
3g.122261979G>ACA354151705CASRc.944G>A (p.Gly315Asp)
c.461G>A (p.Gly154Asp)
c.356G>A (p.Gly119Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261979G>CCA354151706CASRc.944G>C (p.Gly315Ala)
c.461G>C (p.Gly154Ala)
c.356G>C (p.Gly119Ala)
 ClinVar
3g.122261979G=CA1397873251CASRc.944G= (p.Gly315=)
c.461G= (p.Gly154=)
c.356G= (p.Gly119=)
3g.122261979G>TCA354151708CASRc.944G>T (p.Gly315Val)
c.461G>T (p.Gly154Val)
c.356G>T (p.Gly119Val)
3g.122261980C>ACA435424649CASRc.945C>A (p.Gly315=)
c.462C>A (p.Gly154=)
c.357C>A (p.Gly119=)
 ClinVar dbSNP
3g.122261980C=CA1397873253CASRc.945C= (p.Gly315=)
c.462C= (p.Gly154=)
c.357C= (p.Gly119=)
3g.122261980C>GCA435424650CASRc.945C>G (p.Gly315=)
c.462C>G (p.Gly154=)
c.357C>G (p.Gly119=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261980C>TCA82738673CASRc.945C>T (p.Gly315=)
c.462C>T (p.Gly154=)
c.357C>T (p.Gly119=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261981G>ACA2569565CASRc.946G>A (p.Gly316Ser)
c.463G>A (p.Gly155Ser)
c.358G>A (p.Gly120Ser)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
3g.122261981G>CCA354151715CASRc.946G>C (p.Gly316Arg)
c.463G>C (p.Gly155Arg)
c.358G>C (p.Gly120Arg)
3g.122261981G=CA1397873255CASRc.946G= (p.Gly316=)
c.463G= (p.Gly155=)
c.358G= (p.Gly120=)
3g.122261981G>TCA354151713CASRc.946G>T (p.Gly316Cys)
c.463G>T (p.Gly155Cys)
c.358G>T (p.Gly120Cys)
3g.122261982G>ACA354151718CASRc.947G>A (p.Gly316Asp)
c.464G>A (p.Gly155Asp)
c.359G>A (p.Gly120Asp)
 dbSNP
3g.122261982G>CCA354151721CASRc.947G>C (p.Gly316Ala)
c.464G>C (p.Gly155Ala)
c.359G>C (p.Gly120Ala)
3g.122261982G=CA1397873257CASRc.947G= (p.Gly316=)
c.464G= (p.Gly155=)
c.359G= (p.Gly120=)
3g.122261982G>TCA354151723CASRc.947G>T (p.Gly316Val)
c.464G>T (p.Gly155Val)
c.359G>T (p.Gly120Val)
3g.122261983C>ACA435424653CASRc.948C>A (p.Gly316=)
c.465C>A (p.Gly155=)
c.360C>A (p.Gly120=)
3g.122261983C>GCA435424654CASRc.948C>G (p.Gly316=)
c.465C>G (p.Gly155=)
c.360C>G (p.Gly120=)
3g.122261983C>TCA435424655CASRc.948C>T (p.Gly316=)
c.465C>T (p.Gly155=)
c.360C>T (p.Gly120=)
 ClinVar dbSNP gnomAD v4
3g.122261984A>CCA354151727CASRc.949A>C (p.Thr317Pro)
c.466A>C (p.Thr156Pro)
c.361A>C (p.Thr121Pro)
3g.122261984A>GCA354151730CASRc.949A>G (p.Thr317Ala)
c.466A>G (p.Thr156Ala)
c.361A>G (p.Thr121Ala)
 ClinVar
3g.122261984A>TCA354151732CASRc.949A>T (p.Thr317Ser)
c.466A>T (p.Thr156Ser)
c.361A>T (p.Thr121Ser)
3g.122261985C>ACA354151736CASRc.950C>A (p.Thr317Asn)
c.467C>A (p.Thr156Asn)
c.362C>A (p.Thr121Asn)
3g.122261985C>GCA354151737CASRc.950C>G (p.Thr317Ser)
c.467C>G (p.Thr156Ser)
c.362C>G (p.Thr121Ser)
3g.122261985C>TCA354151740CASRc.950C>T (p.Thr317Ile)
c.467C>T (p.Thr156Ile)
c.362C>T (p.Thr121Ile)
3g.122261986C>ACA435424660CASRc.951C>A (p.Thr317=)
c.468C>A (p.Thr156=)
c.363C>A (p.Thr121=)
3g.122261986C=CA1397873259CASRc.951C= (p.Thr317=)
c.468C= (p.Thr156=)
c.363C= (p.Thr121=)
3g.122261986C>GCA435424661CASRc.951C>G (p.Thr317=)
c.468C>G (p.Thr156=)
c.363C>G (p.Thr121=)
3g.122261986C>TCA435424662CASRc.951C>T (p.Thr317=)
c.468C>T (p.Thr156=)
c.363C>T (p.Thr121=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261987A=CA1397873260CASRc.952A= (p.Ile318=)
c.469A= (p.Ile157=)
c.364A= (p.Ile122=)
3g.122261987A>CCA354151747CASRc.952A>C (p.Ile318Leu)
c.469A>C (p.Ile157Leu)
c.364A>C (p.Ile122Leu)
3g.122261987A>GCA2569566CASRc.952A>G (p.Ile318Val)
c.469A>G (p.Ile157Val)
c.364A>G (p.Ile122Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261987A>TCA354151743CASRc.952A>T (p.Ile318Phe)
c.469A>T (p.Ile157Phe)
c.364A>T (p.Ile122Phe)
3g.122261988T>ACA354151749CASRc.953T>A (p.Ile318Asn)
c.470T>A (p.Ile157Asn)
c.365T>A (p.Ile122Asn)
 gnomAD v4
3g.122261988T>CCA354151751CASRc.953T>C (p.Ile318Thr)
c.470T>C (p.Ile157Thr)
c.365T>C (p.Ile122Thr)
 ClinVar dbSNP
3g.122261988T>GCA354151756CASRc.953T>G (p.Ile318Ser)
c.470T>G (p.Ile157Ser)
c.365T>G (p.Ile122Ser)
3g.122261989T>ACA435424665CASRc.954T>A (p.Ile318=)
c.471T>A (p.Ile157=)
c.366T>A (p.Ile122=)
3g.122261989T>CCA435424666CASRc.954T>C (p.Ile318=)
c.471T>C (p.Ile157=)
c.366T>C (p.Ile122=)
3g.122261989T>GCA354151758CASRc.954T>G (p.Ile318Met)
c.471T>G (p.Ile157Met)
c.366T>G (p.Ile122Met)
3g.122261990G>ACA354151761CASRc.955G>A (p.Gly319Arg)
c.472G>A (p.Gly158Arg)
c.367G>A (p.Gly123Arg)
 ClinVar
3g.122261990G>CCA354151764CASRc.955G>C (p.Gly319Arg)
c.472G>C (p.Gly158Arg)
c.367G>C (p.Gly123Arg)
3g.122261990G>TCA354151767CASRc.955G>T (p.Gly319Ter)
c.472G>T (p.Gly158Ter)
c.367G>T (p.Gly123Ter)
3g.122261991G>ACA354151770CASRc.956G>A (p.Gly319Glu)
c.473G>A (p.Gly158Glu)
c.368G>A (p.Gly123Glu)
 ClinVar dbSNP
3g.122261991G>CCA354151772CASRc.956G>C (p.Gly319Ala)
c.473G>C (p.Gly158Ala)
c.368G>C (p.Gly123Ala)
3g.122261991G>TCA354151774CASRc.956G>T (p.Gly319Val)
c.473G>T (p.Gly158Val)
c.368G>T (p.Gly123Val)
3g.122261992A>CCA435424670CASRc.957A>C (p.Gly319=)
c.474A>C (p.Gly158=)
c.369A>C (p.Gly123=)
 ClinVar
3g.122261992A>GCA435424673CASRc.957A>G (p.Gly319=)
c.474A>G (p.Gly158=)
c.369A>G (p.Gly123=)
3g.122261992A>TCA435424671CASRc.957A>T (p.Gly319=)
c.474A>T (p.Gly158=)
c.369A>T (p.Gly123=)
3g.122261993T>ACA354151777CASRc.958T>A (p.Phe320Ile)
c.475T>A (p.Phe159Ile)
c.370T>A (p.Phe124Ile)
 ClinVar COSMIC
3g.122261993T>CCA354151784CASRc.958T>C (p.Phe320Leu)
c.475T>C (p.Phe159Leu)
c.370T>C (p.Phe124Leu)
3g.122261993T>GCA354151787CASRc.958T>G (p.Phe320Val)
c.475T>G (p.Phe159Val)
c.370T>G (p.Phe124Val)
3g.122261994T>ACA354151796CASRc.959T>A (p.Phe320Tyr)
c.476T>A (p.Phe159Tyr)
c.371T>A (p.Phe124Tyr)
3g.122261994T>CCA354151791CASRc.959T>C (p.Phe320Ser)
c.476T>C (p.Phe159Ser)
c.371T>C (p.Phe124Ser)
3g.122261994T>GCA354151793CASRc.959T>G (p.Phe320Cys)
c.476T>G (p.Phe159Cys)
c.371T>G (p.Phe124Cys)
3g.122261995C>ACA354151799CASRc.960C>A (p.Phe320Leu)
c.477C>A (p.Phe159Leu)
c.372C>A (p.Phe124Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.122261995C=CA1397873262CASRc.960C= (p.Phe320=)
c.477C= (p.Phe159=)
c.372C= (p.Phe124=)
3g.122261995C>GCA354151800CASRc.960C>G (p.Phe320Leu)
c.477C>G (p.Phe159Leu)
c.372C>G (p.Phe124Leu)
 dbSNP
3g.122261995C>TCA2569567CASRc.960C>T (p.Phe320=)
c.477C>T (p.Phe159=)
c.372C>T (p.Phe124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122261996_122261997delCA2573136447CASRc.961_962del (p.Ala321SerfsTer?)
c.478_479del (p.Ala160SerfsTer?)
c.373_374del (p.Ala125SerfsTer?)
 ClinVar dbSNP
3g.122261996G>ACA354151806CASRc.961G>A (p.Ala321Thr)
c.478G>A (p.Ala160Thr)
c.373G>A (p.Ala125Thr)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261996G>CCA354151808CASRc.961G>C (p.Ala321Pro)
c.478G>C (p.Ala160Pro)
c.373G>C (p.Ala125Pro)
3g.122261996G=CA1397873264CASRc.961G= (p.Ala321=)
c.478G= (p.Ala160=)
c.373G= (p.Ala125=)
3g.122261996G>TCA354151812CASRc.961G>T (p.Ala321Ser)
c.478G>T (p.Ala160Ser)
c.373G>T (p.Ala125Ser)
 ClinVar dbSNP
3g.122261997C>ACA354151816CASRc.962C>A (p.Ala321Asp)
c.479C>A (p.Ala160Asp)
c.374C>A (p.Ala125Asp)
3g.122261997C>GCA354151817CASRc.962C>G (p.Ala321Gly)
c.479C>G (p.Ala160Gly)
c.374C>G (p.Ala125Gly)
3g.122261997C>TCA354151820CASRc.962C>T (p.Ala321Val)
c.479C>T (p.Ala160Val)
c.374C>T (p.Ala125Val)
 gnomAD v4
3g.122261998T>ACA435424679CASRc.963T>A (p.Ala321=)
c.480T>A (p.Ala160=)
c.375T>A (p.Ala125=)
3g.122261998T>CCA435424680CASRc.963T>C (p.Ala321=)
c.480T>C (p.Ala160=)
c.375T>C (p.Ala125=)
3g.122261998T>GCA435424681CASRc.963T>G (p.Ala321=)
c.480T>G (p.Ala160=)
c.375T>G (p.Ala125=)
3g.122261999C>ACA354151823CASRc.964C>A (p.Leu322Met)
c.481C>A (p.Leu161Met)
c.376C>A (p.Leu126Met)
3g.122261999C>GCA354151825CASRc.964C>G (p.Leu322Val)
c.481C>G (p.Leu161Val)
c.376C>G (p.Leu126Val)
3g.122261999C>TCA435424682CASRc.964C>T (p.Leu322=)
c.481C>T (p.Leu161=)
c.376C>T (p.Leu126=)
 ClinVar dbSNP
3g.122262000T>ACA354151828CASRc.965T>A (p.Leu322Gln)
c.482T>A (p.Leu161Gln)
c.377T>A (p.Leu126Gln)
3g.122262000T>CCA354151834CASRc.965T>C (p.Leu322Pro)
c.482T>C (p.Leu161Pro)
c.377T>C (p.Leu126Pro)
3g.122262000T>GCA354151831CASRc.965T>G (p.Leu322Arg)
c.482T>G (p.Leu161Arg)
c.377T>G (p.Leu126Arg)
 gnomAD v4
3g.122262001G>ACA435424684CASRc.966G>A (p.Leu322=)
c.483G>A (p.Leu161=)
c.378G>A (p.Leu126=)
3g.122262001G>CCA435424685CASRc.966G>C (p.Leu322=)
c.483G>C (p.Leu161=)
c.378G>C (p.Leu126=)
3g.122262001G>TCA435424686CASRc.966G>T (p.Leu322=)
c.483G>T (p.Leu161=)
c.378G>T (p.Leu126=)
3g.122262002A>CCA354151838CASRc.967A>C (p.Lys323Gln)
c.484A>C (p.Lys162Gln)
c.379A>C (p.Lys127Gln)
3g.122262002A>GCA354151842CASRc.967A>G (p.Lys323Glu)
c.484A>G (p.Lys162Glu)
c.379A>G (p.Lys127Glu)
3g.122262002A>TCA354151840CASRc.967A>T (p.Lys323Ter)
c.484A>T (p.Lys162Ter)
c.379A>T (p.Lys127Ter)
 gnomAD v4
3g.122262003A=CA1397873266CASRc.968A= (p.Lys323=)
c.485A= (p.Lys162=)
c.380A= (p.Lys127=)
3g.122262003A>CCA354151845CASRc.968A>C (p.Lys323Thr)
c.485A>C (p.Lys162Thr)
c.380A>C (p.Lys127Thr)
 ClinVar dbSNP
3g.122262003A>GCA354151851CASRc.968A>G (p.Lys323Arg)
c.485A>G (p.Lys162Arg)
c.380A>G (p.Lys127Arg)
3g.122262003A>TCA354151848CASRc.968A>T (p.Lys323Met)
c.485A>T (p.Lys162Met)
c.380A>T (p.Lys127Met)
3g.122262004G>ACA435424689CASRc.969G>A (p.Lys323=)
c.486G>A (p.Lys162=)
c.381G>A (p.Lys127=)
 ClinVar dbSNP
3g.122262004G>CCA354151853CASRc.969G>C (p.Lys323Asn)
c.486G>C (p.Lys162Asn)
c.381G>C (p.Lys127Asn)
3g.122262004G=CA1397873268CASRc.969G= (p.Lys323=)
c.486G= (p.Lys162=)
c.381G= (p.Lys127=)
3g.122262004G>TCA354151856CASRc.969G>T (p.Lys323Asn)
c.486G>T (p.Lys162Asn)
c.381G>T (p.Lys127Asn)
3g.122262005G>ACA354151859CASRc.970G>A (p.Ala324Thr)
c.487G>A (p.Ala163Thr)
c.382G>A (p.Ala128Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122262005G>CCA2569568CASRc.970G>C (p.Ala324Pro)
c.487G>C (p.Ala163Pro)
c.382G>C (p.Ala128Pro)
 ClinVar dbSNP ExAC gnomAD v2
3g.122262005G=CA1397873270CASRc.970G= (p.Ala324=)
c.487G= (p.Ala163=)
c.382G= (p.Ala128=)
3g.122262005G>TCA354151863CASRc.970G>T (p.Ala324Ser)
c.487G>T (p.Ala163Ser)
c.382G>T (p.Ala128Ser)
3g.122262006C>ACA354151871CASRc.971C>A (p.Ala324Asp)
c.488C>A (p.Ala163Asp)
c.383C>A (p.Ala128Asp)
 ClinVar
3g.122262006C>GCA354151869CASRc.971C>G (p.Ala324Gly)
c.488C>G (p.Ala163Gly)
c.383C>G (p.Ala128Gly)
 ClinVar
3g.122262006C>TCA354151867CASRc.971C>T (p.Ala324Val)
c.488C>T (p.Ala163Val)
c.383C>T (p.Ala128Val)
3g.122262007T>ACA435424692CASRc.972T>A (p.Ala324=)
c.489T>A (p.Ala163=)
c.384T>A (p.Ala128=)
3g.122262007T>CCA435424693CASRc.972T>C (p.Ala324=)
c.489T>C (p.Ala163=)
c.384T>C (p.Ala128=)
3g.122262007T>GCA435424694CASRc.972T>G (p.Ala324=)
c.489T>G (p.Ala163=)
c.384T>G (p.Ala128=)
3g.122262008G>ACA354151874CASRc.973G>A (p.Gly325Arg)
c.490G>A (p.Gly164Arg)
c.385G>A (p.Gly129Arg)
 ClinVar COSMIC
3g.122262008G>CCA2569569CASRc.973G>C (p.Gly325Arg)
c.490G>C (p.Gly164Arg)
c.385G>C (p.Gly129Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262008G=CA1397873271CASRc.973G= (p.Gly325=)
c.490G= (p.Gly164=)
c.385G= (p.Gly129=)
3g.122262008G>TCA354151877CASRc.973G>T (p.Gly325Trp)
c.490G>T (p.Gly164Trp)
c.385G>T (p.Gly129Trp)
3g.122262009G>ACA213606CASRc.974G>A (p.Gly325Glu)
c.491G>A (p.Gly164Glu)
c.386G>A (p.Gly129Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262009G>CCA82738718CASRc.974G>C (p.Gly325Ala)
c.491G>C (p.Gly164Ala)
c.386G>C (p.Gly129Ala)
 dbSNP
3g.122262009G=CA1397873273CASRc.974G= (p.Gly325=)
c.491G= (p.Gly164=)
c.386G= (p.Gly129=)
3g.122262009G>TCA354151882CASRc.974G>T (p.Gly325Val)
c.491G>T (p.Gly164Val)
c.386G>T (p.Gly129Val)
3g.122262010G>ACA435424699CASRc.975G>A (p.Gly325=)
c.492G>A (p.Gly164=)
c.387G>A (p.Gly129=)
 ClinVar
3g.122262010G>CCA435424700CASRc.975G>C (p.Gly325=)
c.492G>C (p.Gly164=)
c.387G>C (p.Gly129=)
3g.122262010G>TCA435424702CASRc.975G>T (p.Gly325=)
c.492G>T (p.Gly164=)
c.387G>T (p.Gly129=)
 gnomAD v4
3g.122262011C>ACA354151889CASRc.976C>A (p.Gln326Lys)
c.493C>A (p.Gln165Lys)
c.388C>A (p.Gln130Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.122262011C=CA1397873276CASRc.976C= (p.Gln326=)
c.493C= (p.Gln165=)
c.388C= (p.Gln130=)
3g.122262011C>GCA354151884CASRc.976C>G (p.Gln326Glu)
c.493C>G (p.Gln165Glu)
c.388C>G (p.Gln130Glu)
3g.122262011C>TCA354151887CASRc.976C>T (p.Gln326Ter)
c.493C>T (p.Gln165Ter)
c.388C>T (p.Gln130Ter)
 ClinVar
3g.122262012A>CCA354151893CASRc.977A>C (p.Gln326Pro)
c.494A>C (p.Gln165Pro)
c.389A>C (p.Gln130Pro)
3g.122262012A>GCA354151895CASRc.977A>G (p.Gln326Arg)
c.494A>G (p.Gln165Arg)
c.389A>G (p.Gln130Arg)
3g.122262012A>TCA354151898CASRc.977A>T (p.Gln326Leu)
c.494A>T (p.Gln165Leu)
c.389A>T (p.Gln130Leu)
 ClinVar
3g.122262013G>ACA82738724CASRc.978G>A (p.Gln326=)
c.495G>A (p.Gln165=)
c.390G>A (p.Gln130=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262013G>CCA354151901CASRc.978G>C (p.Gln326His)
c.495G>C (p.Gln165His)
c.390G>C (p.Gln130His)
3g.122262013G=CA1397873277CASRc.978G= (p.Gln326=)
c.495G= (p.Gln165=)
c.390G= (p.Gln130=)
3g.122262013G>TCA354151904CASRc.978G>T (p.Gln326His)
c.495G>T (p.Gln165His)
c.390G>T (p.Gln130His)
3g.122262014A>CCA354151908CASRc.979A>C (p.Ile327Leu)
c.496A>C (p.Ile166Leu)
c.391A>C (p.Ile131Leu)
3g.122262014A>GCA354151910CASRc.979A>G (p.Ile327Val)
c.496A>G (p.Ile166Val)
c.391A>G (p.Ile131Val)
3g.122262014A>TCA354151913CASRc.979A>T (p.Ile327Phe)
c.496A>T (p.Ile166Phe)
c.391A>T (p.Ile131Phe)
3g.122262015T>ACA354151916CASRc.980T>A (p.Ile327Asn)
c.497T>A (p.Ile166Asn)
c.392T>A (p.Ile131Asn)
3g.122262015T>CCA354151918CASRc.980T>C (p.Ile327Thr)
c.497T>C (p.Ile166Thr)
c.392T>C (p.Ile131Thr)
3g.122262015T>GCA354151921CASRc.980T>G (p.Ile327Ser)
c.497T>G (p.Ile166Ser)
c.392T>G (p.Ile131Ser)
3g.122262016C>ACA435424717CASRc.981C>A (p.Ile327=)
c.498C>A (p.Ile166=)
c.393C>A (p.Ile131=)
3g.122262016C=CA1397873280CASRc.981C= (p.Ile327=)
c.498C= (p.Ile166=)
c.393C= (p.Ile131=)
3g.122262016C>GCA354151923CASRc.981C>G (p.Ile327Met)
c.498C>G (p.Ile166Met)
c.393C>G (p.Ile131Met)
 ClinVar dbSNP
3g.122262016C>TCA435424713CASRc.981C>T (p.Ile327=)
c.498C>T (p.Ile166=)
c.393C>T (p.Ile131=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262017C>ACA354151925CASRc.982C>A (p.Pro328Thr)
c.499C>A (p.Pro167Thr)
c.394C>A (p.Pro132Thr)
3g.122262017C>GCA354151931CASRc.982C>G (p.Pro328Ala)
c.499C>G (p.Pro167Ala)
c.394C>G (p.Pro132Ala)
3g.122262017C>TCA354151928CASRc.982C>T (p.Pro328Ser)
c.499C>T (p.Pro167Ser)
c.394C>T (p.Pro132Ser)
3g.122262018C>ACA354151935CASRc.983C>A (p.Pro328Gln)
c.500C>A (p.Pro167Gln)
c.395C>A (p.Pro132Gln)
3g.122262018C>GCA354151938CASRc.983C>G (p.Pro328Arg)
c.500C>G (p.Pro167Arg)
c.395C>G (p.Pro132Arg)
3g.122262018C>TCA354151941CASRc.983C>T (p.Pro328Leu)
c.500C>T (p.Pro167Leu)
c.395C>T (p.Pro132Leu)
3g.122262019A>CCA435424721CASRc.984A>C (p.Pro328=)
c.501A>C (p.Pro167=)
c.396A>C (p.Pro132=)
3g.122262019A>GCA435424723CASRc.984A>G (p.Pro328=)
c.501A>G (p.Pro167=)
c.396A>G (p.Pro132=)
3g.122262019A>TCA435424722CASRc.984A>T (p.Pro328=)
c.501A>T (p.Pro167=)
c.396A>T (p.Pro132=)
3g.122262020G>ACA354151945CASRc.985G>A (p.Gly329Ser)
c.502G>A (p.Gly168Ser)
c.397G>A (p.Gly133Ser)
 COSMIC
3g.122262020G>CCA354151947CASRc.985G>C (p.Gly329Arg)
c.502G>C (p.Gly168Arg)
c.397G>C (p.Gly133Arg)
3g.122262020G>TCA354151952CASRc.985G>T (p.Gly329Cys)
c.502G>T (p.Gly168Cys)
c.397G>T (p.Gly133Cys)
3g.122262021_122262029delCA2573136449CASRc.986_994del (p.Gly329_Arg331del)
c.503_511del (p.Gly168_Arg170del)
c.398_406del (p.Gly133_Arg135del)
 ClinVar dbSNP
3g.122262021G>ACA354151956CASRc.986G>A (p.Gly329Asp)
c.503G>A (p.Gly168Asp)
c.398G>A (p.Gly133Asp)
3g.122262021G>CCA354151961CASRc.986G>C (p.Gly329Ala)
c.503G>C (p.Gly168Ala)
c.398G>C (p.Gly133Ala)
3g.122262021G>TCA354151963CASRc.986G>T (p.Gly329Val)
c.503G>T (p.Gly168Val)
c.398G>T (p.Gly133Val)
3g.122262022C>ACA435424927CASRc.987C>A (p.Gly329=)
c.504C>A (p.Gly168=)
c.399C>A (p.Gly133=)
 gnomAD v4
3g.122262022C=CA1397873282CASRc.987C= (p.Gly329=)
c.504C= (p.Gly168=)
c.399C= (p.Gly133=)
3g.122262022C>GCA435424928CASRc.987C>G (p.Gly329=)
c.504C>G (p.Gly168=)
c.399C>G (p.Gly133=)
3g.122262022C>TCA435424929CASRc.987C>T (p.Gly329=)
c.504C>T (p.Gly168=)
c.399C>T (p.Gly133=)
 ClinVar dbSNP gnomAD v4
3g.122262023T>ACA354151965CASRc.988T>A (p.Phe330Ile)
c.505T>A (p.Phe169Ile)
c.400T>A (p.Phe134Ile)
3g.122262023T>CCA354151968CASRc.988T>C (p.Phe330Leu)
c.505T>C (p.Phe169Leu)
c.400T>C (p.Phe134Leu)
 gnomAD v4
3g.122262023T>GCA354151970CASRc.988T>G (p.Phe330Val)
c.505T>G (p.Phe169Val)
c.400T>G (p.Phe134Val)
3g.122262024T>ACA354151975CASRc.989T>A (p.Phe330Tyr)
c.506T>A (p.Phe169Tyr)
c.401T>A (p.Phe134Tyr)
3g.122262024T>CCA354151973CASRc.989T>C (p.Phe330Ser)
c.506T>C (p.Phe169Ser)
c.401T>C (p.Phe134Ser)
3g.122262024T>GCA354151974CASRc.989T>G (p.Phe330Cys)
c.506T>G (p.Phe169Cys)
c.401T>G (p.Phe134Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262024T=CA1397873284CASRc.989T= (p.Phe330=)
c.506T= (p.Phe169=)
c.401T= (p.Phe134=)
3g.122262025C>ACA354151977CASRc.990C>A (p.Phe330Leu)
c.507C>A (p.Phe169Leu)
c.402C>A (p.Phe134Leu)
3g.122262025C>GCA354151980CASRc.990C>G (p.Phe330Leu)
c.507C>G (p.Phe169Leu)
c.402C>G (p.Phe134Leu)
3g.122262025C>TCA435424938CASRc.990C>T (p.Phe330=)
c.507C>T (p.Phe169=)
c.402C>T (p.Phe134=)
3g.122262026C>ACA435424939CASRc.991C>A (p.Arg331=)
c.508C>A (p.Arg170=)
c.403C>A (p.Arg135=)
3g.122262026C=CA1397873287CASRc.991C= (p.Arg331=)
c.508C= (p.Arg170=)
c.403C= (p.Arg135=)
3g.122262026C>GCA354151982CASRc.991C>G (p.Arg331Gly)
c.508C>G (p.Arg170Gly)
c.403C>G (p.Arg135Gly)
3g.122262026C>TCA354151985CASRc.991C>T (p.Arg331Trp)
c.508C>T (p.Arg170Trp)
c.403C>T (p.Arg135Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122262027G>ACA2569570CASRc.992G>A (p.Arg331Gln)
c.509G>A (p.Arg170Gln)
c.404G>A (p.Arg135Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262027G>CCA354151990CASRc.992G>C (p.Arg331Pro)
c.509G>C (p.Arg170Pro)
c.404G>C (p.Arg135Pro)
 ClinVar dbSNP
3g.122262027G=CA1397873290CASRc.992G= (p.Arg331=)
c.509G= (p.Arg170=)
c.404G= (p.Arg135=)
3g.122262027G>TCA354151992CASRc.992G>T (p.Arg331Leu)
c.509G>T (p.Arg170Leu)
c.404G>T (p.Arg135Leu)
 ClinVar dbSNP
3g.122262029delCA2740094564CASRc.994del (p.Glu332AsnfsTer3)
c.511del (p.Glu171AsnfsTer3)
c.406del (p.Glu136AsnfsTer3)
 ClinVar
3g.122262028G>ACA435424943CASRc.993G>A (p.Arg331=)
c.510G>A (p.Arg170=)
c.405G>A (p.Arg135=)
 gnomAD v4 COSMIC
3g.122262028G>CCA435424944CASRc.993G>C (p.Arg331=)
c.510G>C (p.Arg170=)
c.405G>C (p.Arg135=)
3g.122262028G>TCA435424945CASRc.993G>T (p.Arg331=)
c.510G>T (p.Arg170=)
c.405G>T (p.Arg135=)
3g.122262029G>ACA354151996CASRc.994G>A (p.Glu332Lys)
c.511G>A (p.Glu171Lys)
c.406G>A (p.Glu136Lys)
 ClinVar COSMIC
3g.122262029G>CCA354151998CASRc.994G>C (p.Glu332Gln)
c.511G>C (p.Glu171Gln)
c.406G>C (p.Glu136Gln)
3g.122262029G>TCA354152001CASRc.994G>T (p.Glu332Ter)
c.511G>T (p.Glu171Ter)
c.406G>T (p.Glu136Ter)
3g.122262030A>CCA354152008CASRc.995A>C (p.Glu332Ala)
c.512A>C (p.Glu171Ala)
c.407A>C (p.Glu136Ala)
3g.122262030A>GCA354152006CASRc.995A>G (p.Glu332Gly)
c.512A>G (p.Glu171Gly)
c.407A>G (p.Glu136Gly)
 ClinVar
3g.122262030A>TCA354152004CASRc.995A>T (p.Glu332Val)
c.512A>T (p.Glu171Val)
c.407A>T (p.Glu136Val)
3g.122262031A>CCA354152012CASRc.996A>C (p.Glu332Asp)
c.513A>C (p.Glu171Asp)
c.408A>C (p.Glu136Asp)
3g.122262031A>GCA435424952CASRc.996A>G (p.Glu332=)
c.513A>G (p.Glu171=)
c.408A>G (p.Glu136=)
 gnomAD v4
3g.122262031A>TCA354152014CASRc.996A>T (p.Glu332Asp)
c.513A>T (p.Glu171Asp)
c.408A>T (p.Glu136Asp)
3g.122262032T>ACA354152016CASRc.997T>A (p.Phe333Ile)
c.514T>A (p.Phe172Ile)
c.409T>A (p.Phe137Ile)
3g.122262032T>CCA354152019CASRc.997T>C (p.Phe333Leu)
c.514T>C (p.Phe172Leu)
c.409T>C (p.Phe137Leu)
3g.122262032T>GCA354152021CASRc.997T>G (p.Phe333Val)
c.514T>G (p.Phe172Val)
c.409T>G (p.Phe137Val)
3g.122262033T>ACA354152025CASRc.998T>A (p.Phe333Tyr)
c.515T>A (p.Phe172Tyr)
c.410T>A (p.Phe137Tyr)
3g.122262033T>CCA354152027CASRc.998T>C (p.Phe333Ser)
c.515T>C (p.Phe172Ser)
c.410T>C (p.Phe137Ser)
 ClinVar
3g.122262033T>GCA354152030CASRc.998T>G (p.Phe333Cys)
c.515T>G (p.Phe172Cys)
c.410T>G (p.Phe137Cys)
3g.122262034C>ACA354152032CASRc.999C>A (p.Phe333Leu)
c.516C>A (p.Phe172Leu)
c.411C>A (p.Phe137Leu)
3g.122262034C=CA1397873292CASRc.999C= (p.Phe333=)
c.516C= (p.Phe172=)
c.411C= (p.Phe137=)
3g.122262034C>GCA354152035CASRc.999C>G (p.Phe333Leu)
c.516C>G (p.Phe172Leu)
c.411C>G (p.Phe137Leu)
3g.122262034C>TCA2569571CASRc.999C>T (p.Phe333=)
c.516C>T (p.Phe172=)
c.411C>T (p.Phe137=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262035C>ACA354152040CASRc.1000C>A (p.Leu334Met)
c.517C>A (p.Leu173Met)
c.412C>A (p.Leu138Met)
3g.122262035C>GCA354152042CASRc.1000C>G (p.Leu334Val)
c.517C>G (p.Leu173Val)
c.412C>G (p.Leu138Val)
3g.122262035C>TCA435424965CASRc.1000C>T (p.Leu334=)
c.517C>T (p.Leu173=)
c.412C>T (p.Leu138=)
 gnomAD v4
3g.122262036T>ACA354152049CASRc.1001T>A (p.Leu334Gln)
c.518T>A (p.Leu173Gln)
c.413T>A (p.Leu138Gln)
3g.122262036T>CCA354152045CASRc.1001T>C (p.Leu334Pro)
c.518T>C (p.Leu173Pro)
c.413T>C (p.Leu138Pro)
 COSMIC
3g.122262036T>GCA354152047CASRc.1001T>G (p.Leu334Arg)
c.518T>G (p.Leu173Arg)
c.413T>G (p.Leu138Arg)
3g.122262037G>ACA435424970CASRc.1002G>A (p.Leu334=)
c.519G>A (p.Leu173=)
c.414G>A (p.Leu138=)
 ClinVar dbSNP
3g.122262037G>CCA435424971CASRc.1002G>C (p.Leu334=)
c.519G>C (p.Leu173=)
c.414G>C (p.Leu138=)
3g.122262037G>TCA435424972CASRc.1002G>T (p.Leu334=)
c.519G>T (p.Leu173=)
c.414G>T (p.Leu138=)
3g.122262041_122262043delCA2586972806CASRc.1006_1008del (p.Lys336del)
c.523_525del (p.Lys175del)
c.418_420del (p.Lys140del)
3g.122262038A>CCA354152053CASRc.1003A>C (p.Lys335Gln)
c.520A>C (p.Lys174Gln)
c.415A>C (p.Lys139Gln)
3g.122262038A>GCA354152055CASRc.1003A>G (p.Lys335Glu)
c.520A>G (p.Lys174Glu)
c.415A>G (p.Lys139Glu)
3g.122262038A>TCA354152058CASRc.1003A>T (p.Lys335Ter)
c.520A>T (p.Lys174Ter)
c.415A>T (p.Lys139Ter)
3g.122262039A>CCA354152062CASRc.1004A>C (p.Lys335Thr)
c.521A>C (p.Lys174Thr)
c.416A>C (p.Lys139Thr)
3g.122262039A>GCA354152065CASRc.1004A>G (p.Lys335Arg)
c.521A>G (p.Lys174Arg)
c.416A>G (p.Lys139Arg)
3g.122262039A>TCA354152068CASRc.1004A>T (p.Lys335Met)
c.521A>T (p.Lys174Met)
c.416A>T (p.Lys139Met)
3g.122262040G>ACA435424979CASRc.1005G>A (p.Lys335=)
c.522G>A (p.Lys174=)
c.417G>A (p.Lys139=)
3g.122262040G>CCA354152071CASRc.1005G>C (p.Lys335Asn)
c.522G>C (p.Lys174Asn)
c.417G>C (p.Lys139Asn)
3g.122262040G>TCA354152073CASRc.1005G>T (p.Lys335Asn)
c.522G>T (p.Lys174Asn)
c.417G>T (p.Lys139Asn)
3g.122262041A=CA1397873293CASRc.1006A= (p.Lys336=)
c.523A= (p.Lys175=)
c.418A= (p.Lys140=)
3g.122262041A>CCA354152075CASRc.1006A>C (p.Lys336Gln)
c.523A>C (p.Lys175Gln)
c.418A>C (p.Lys140Gln)
3g.122262041A>GCA354152078CASRc.1006A>G (p.Lys336Glu)
c.523A>G (p.Lys175Glu)
c.418A>G (p.Lys140Glu)
 dbSNP
3g.122262041A>TCA354152081CASRc.1006A>T (p.Lys336Ter)
c.523A>T (p.Lys175Ter)
c.418A>T (p.Lys140Ter)
3g.122262042A>CCA354152086CASRc.1007A>C (p.Lys336Thr)
c.524A>C (p.Lys175Thr)
c.419A>C (p.Lys140Thr)
3g.122262042A>GCA354152089CASRc.1007A>G (p.Lys336Arg)
c.524A>G (p.Lys175Arg)
c.419A>G (p.Lys140Arg)
3g.122262042A>TCA354152083CASRc.1007A>T (p.Lys336Met)
c.524A>T (p.Lys175Met)
c.419A>T (p.Lys140Met)
3g.122262043G>ACA435424990CASRc.1008G>A (p.Lys336=)
c.525G>A (p.Lys175=)
c.420G>A (p.Lys140=)
3g.122262043G>CCA2569573CASRc.1008G>C (p.Lys336Asn)
c.525G>C (p.Lys175Asn)
c.420G>C (p.Lys140Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262043G=CA1397873295CASRc.1008G= (p.Lys336=)
c.525G= (p.Lys175=)
c.420G= (p.Lys140=)
3g.122262043G>TCA2569572CASRc.1008G>T (p.Lys336Asn)
c.525G>T (p.Lys175Asn)
c.420G>T (p.Lys140Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262044G>ACA354152099CASRc.1009G>A (p.Val337Ile)
c.526G>A (p.Val176Ile)
c.421G>A (p.Val141Ile)
 dbSNP
3g.122262044G>CCA354152100CASRc.1009G>C (p.Val337Leu)
c.526G>C (p.Val176Leu)
c.421G>C (p.Val141Leu)
3g.122262044G=CA1397873299CASRc.1009G= (p.Val337=)
c.526G= (p.Val176=)
c.421G= (p.Val141=)
3g.122262044G>TCA2569574CASRc.1009G>T (p.Val337Phe)
c.526G>T (p.Val176Phe)
c.421G>T (p.Val141Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262045T>ACA354152101CASRc.1010T>A (p.Val337Asp)
c.527T>A (p.Val176Asp)
c.422T>A (p.Val141Asp)
3g.122262045T>CCA354152102CASRc.1010T>C (p.Val337Ala)
c.527T>C (p.Val176Ala)
c.422T>C (p.Val141Ala)
 ClinVar dbSNP
3g.122262045T>GCA354152104CASRc.1010T>G (p.Val337Gly)
c.527T>G (p.Val176Gly)
c.422T>G (p.Val141Gly)
3g.122262046C>ACA435424999CASRc.1011C>A (p.Val337=)
c.528C>A (p.Val176=)
c.423C>A (p.Val141=)
3g.122262046C=CA1397873302CASRc.1011C= (p.Val337=)
c.528C= (p.Val176=)
c.423C= (p.Val141=)
3g.122262046C>GCA2569575CASRc.1011C>G (p.Val337=)
c.528C>G (p.Val176=)
c.423C>G (p.Val141=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262046C>TCA435425000CASRc.1011C>T (p.Val337=)
c.528C>T (p.Val176=)
c.423C>T (p.Val141=)
3g.122262047C>ACA354152107CASRc.1012C>A (p.His338Asn)
c.529C>A (p.His177Asn)
c.424C>A (p.His142Asn)
3g.122262047C=CA1397873304CASRc.1012C= (p.His338=)
c.529C= (p.His177=)
c.424C= (p.His142=)
3g.122262047C>GCA354152108CASRc.1012C>G (p.His338Asp)
c.529C>G (p.His177Asp)
c.424C>G (p.His142Asp)
3g.122262047C>TCA354152111CASRc.1012C>T (p.His338Tyr)
c.529C>T (p.His177Tyr)
c.424C>T (p.His142Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched