Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122262185T>ACA354152696CASRc.1150T>A (p.Phe384Ile)
c.667T>A (p.Phe223Ile)
c.562T>A (p.Phe188Ile)
3g.122262185T>CCA354152697CASRc.1150T>C (p.Phe384Leu)
c.667T>C (p.Phe223Leu)
c.562T>C (p.Phe188Leu)
3g.122262185T>GCA354152698CASRc.1150T>G (p.Phe384Val)
c.667T>G (p.Phe223Val)
c.562T>G (p.Phe188Val)
3g.122262186T>ACA354152699CASRc.1151T>A (p.Phe384Tyr)
c.668T>A (p.Phe223Tyr)
c.563T>A (p.Phe188Tyr)
3g.122262186T>CCA354152700CASRc.1151T>C (p.Phe384Ser)
c.668T>C (p.Phe223Ser)
c.563T>C (p.Phe188Ser)
3g.122262186T>GCA354152701CASRc.1151T>G (p.Phe384Cys)
c.668T>G (p.Phe223Cys)
c.563T>G (p.Phe188Cys)
3g.122262187T>ACA354152702CASRc.1152T>A (p.Phe384Leu)
c.669T>A (p.Phe223Leu)
c.564T>A (p.Phe188Leu)
3g.122262187T>CCA435424552CASRc.1152T>C (p.Phe384=)
c.669T>C (p.Phe223=)
c.564T>C (p.Phe188=)
3g.122262187T>GCA354152703CASRc.1152T>G (p.Phe384Leu)
c.669T>G (p.Phe223Leu)
c.564T>G (p.Phe188Leu)
3g.122262188A>CCA354152704CASRc.1153A>C (p.Ser385Arg)
c.670A>C (p.Ser224Arg)
c.565A>C (p.Ser189Arg)
 gnomAD v4
3g.122262188A>GCA354152705CASRc.1153A>G (p.Ser385Gly)
c.670A>G (p.Ser224Gly)
c.565A>G (p.Ser189Gly)
3g.122262188A>TCA354152706CASRc.1153A>T (p.Ser385Cys)
c.670A>T (p.Ser224Cys)
c.565A>T (p.Ser189Cys)
3g.122262189G>ACA354152707CASRc.1154G>A (p.Ser385Asn)
c.671G>A (p.Ser224Asn)
c.566G>A (p.Ser189Asn)
 ClinVar dbSNP
3g.122262189G>CCA354152709CASRc.1154G>C (p.Ser385Thr)
c.671G>C (p.Ser224Thr)
c.566G>C (p.Ser189Thr)
3g.122262189G=CA1397873536CASRc.1154G= (p.Ser385=)
c.671G= (p.Ser224=)
c.566G= (p.Ser189=)
3g.122262189G>TCA354152708CASRc.1154G>T (p.Ser385Ile)
c.671G>T (p.Ser224Ile)
c.566G>T (p.Ser189Ile)
3g.122262190C>ACA354152710CASRc.1155C>A (p.Ser385Arg)
c.672C>A (p.Ser224Arg)
c.567C>A (p.Ser189Arg)
 ClinVar COSMIC
3g.122262190C=CA1397873544CASRc.1155C= (p.Ser385=)
c.672C= (p.Ser224=)
c.567C= (p.Ser189=)
3g.122262190C>GCA354152711CASRc.1155C>G (p.Ser385Arg)
c.672C>G (p.Ser224Arg)
c.567C>G (p.Ser189Arg)
3g.122262190C>TCA435424562CASRc.1155C>T (p.Ser385=)
c.672C>T (p.Ser224=)
c.567C>T (p.Ser189=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262191A>CCA354152712CASRc.1156A>C (p.Asn386His)
c.673A>C (p.Asn225His)
c.568A>C (p.Asn190His)
 ClinVar dbSNP
3g.122262191A>GCA354152713CASRc.1156A>G (p.Asn386Asp)
c.673A>G (p.Asn225Asp)
c.568A>G (p.Asn190Asp)
3g.122262191A>TCA354152714CASRc.1156A>T (p.Asn386Tyr)
c.673A>T (p.Asn225Tyr)
c.568A>T (p.Asn190Tyr)
3g.122262192A>CCA354152715CASRc.1157A>C (p.Asn386Thr)
c.674A>C (p.Asn225Thr)
c.569A>C (p.Asn190Thr)
3g.122262192A>GCA354152716CASRc.1157A>G (p.Asn386Ser)
c.674A>G (p.Asn225Ser)
c.569A>G (p.Asn190Ser)
3g.122262192A>TCA354152717CASRc.1157A>T (p.Asn386Ile)
c.674A>T (p.Asn225Ile)
c.569A>T (p.Asn190Ile)
3g.122262193C>ACA354152718CASRc.1158C>A (p.Asn386Lys)
c.675C>A (p.Asn225Lys)
c.570C>A (p.Asn190Lys)
3g.122262193C>GCA354152719CASRc.1158C>G (p.Asn386Lys)
c.675C>G (p.Asn225Lys)
c.570C>G (p.Asn190Lys)
3g.122262193C>TCA435424571CASRc.1158C>T (p.Asn386=)
c.675C>T (p.Asn225=)
c.570C>T (p.Asn190=)
3g.122262194A=CA1397873548CASRc.1159A= (p.Ser387=)
c.676A= (p.Ser226=)
c.571A= (p.Ser191=)
3g.122262194A>CCA354152721CASRc.1159A>C (p.Ser387Arg)
c.676A>C (p.Ser226Arg)
c.571A>C (p.Ser191Arg)
3g.122262194A>GCA2569603CASRc.1159A>G (p.Ser387Gly)
c.676A>G (p.Ser226Gly)
c.571A>G (p.Ser191Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262194A>TCA354152720CASRc.1159A>T (p.Ser387Cys)
c.676A>T (p.Ser226Cys)
c.571A>T (p.Ser191Cys)
3g.122262195G>ACA354152722CASRc.1160G>A (p.Ser387Asn)
c.677G>A (p.Ser226Asn)
c.572G>A (p.Ser191Asn)
 COSMIC
3g.122262195G>CCA354152723CASRc.1160G>C (p.Ser387Thr)
c.677G>C (p.Ser226Thr)
c.572G>C (p.Ser191Thr)
 ClinVar
3g.122262195G>TCA354152724CASRc.1160G>T (p.Ser387Ile)
c.677G>T (p.Ser226Ile)
c.572G>T (p.Ser191Ile)
3g.122262196C>ACA354152725CASRc.1161C>A (p.Ser387Arg)
c.678C>A (p.Ser226Arg)
c.573C>A (p.Ser191Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262196C=CA1397873555CASRc.1161C= (p.Ser387=)
c.678C= (p.Ser226=)
c.573C= (p.Ser191=)
3g.122262196C>GCA354152726CASRc.1161C>G (p.Ser387Arg)
c.678C>G (p.Ser226Arg)
c.573C>G (p.Ser191Arg)
3g.122262196C>TCA435424577CASRc.1161C>T (p.Ser387=)
c.678C>T (p.Ser226=)
c.573C>T (p.Ser191=)
3g.122262197T>ACA354152727CASRc.1162T>A (p.Ser388Thr)
c.679T>A (p.Ser227Thr)
c.574T>A (p.Ser192Thr)
3g.122262197T>CCA354152728CASRc.1162T>C (p.Ser388Pro)
c.679T>C (p.Ser227Pro)
c.574T>C (p.Ser192Pro)
3g.122262197T>GCA354152729CASRc.1162T>G (p.Ser388Ala)
c.679T>G (p.Ser227Ala)
c.574T>G (p.Ser192Ala)
3g.122262198C>ACA354152730CASRc.1163C>A (p.Ser388Ter)
c.680C>A (p.Ser227Ter)
c.575C>A (p.Ser192Ter)
 COSMIC
3g.122262198C=CA1397873566CASRc.1163C= (p.Ser388=)
c.680C= (p.Ser227=)
c.575C= (p.Ser192=)
3g.122262198C>GCA2569604CASRc.1163C>G (p.Ser388Trp)
c.680C>G (p.Ser227Trp)
c.575C>G (p.Ser192Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262198C>TCA82738915CASRc.1163C>T (p.Ser388Leu)
c.680C>T (p.Ser227Leu)
c.575C>T (p.Ser192Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262199G>ACA2569605CASRc.1164G>A (p.Ser388=)
c.681G>A (p.Ser227=)
c.576G>A (p.Ser192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262199G>CCA435424583CASRc.1164G>C (p.Ser388=)
c.681G>C (p.Ser227=)
c.576G>C (p.Ser192=)
 ClinVar dbSNP gnomAD v2
3g.122262199G=CA1397873576CASRc.1164G= (p.Ser388=)
c.681G= (p.Ser227=)
c.576G= (p.Ser192=)
3g.122262199G>TCA435424584CASRc.1164G>T (p.Ser388=)
c.681G>T (p.Ser227=)
c.576G>T (p.Ser192=)
 ClinVar
3g.122262199_122262200delinsGACA1397873574CASRc.1164_1165delinsGA (p.Ser388=)
c.681_682delinsGA (p.Ser227=)
c.576_577delinsGA (p.Ser192=)
3g.122262200delCA2569606CASRc.1165del (p.Thr389GlnfsTer21)
c.682del (p.Thr228GlnfsTer21)
c.577del (p.Thr193GlnfsTer21)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262200A>CCA354152733CASRc.1165A>C (p.Thr389Pro)
c.682A>C (p.Thr228Pro)
c.577A>C (p.Thr193Pro)
3g.122262200A>GCA354152732CASRc.1165A>G (p.Thr389Ala)
c.682A>G (p.Thr228Ala)
c.577A>G (p.Thr193Ala)
 ClinVar
3g.122262200A>TCA354152731CASRc.1165A>T (p.Thr389Ser)
c.682A>T (p.Thr228Ser)
c.577A>T (p.Thr193Ser)
3g.122262201C>ACA354152734CASRc.1166C>A (p.Thr389Lys)
c.683C>A (p.Thr228Lys)
c.578C>A (p.Thr193Lys)
3g.122262201C>GCA354152735CASRc.1166C>G (p.Thr389Arg)
c.683C>G (p.Thr228Arg)
c.578C>G (p.Thr193Arg)
 ClinVar dbSNP
3g.122262201C>TCA354152736CASRc.1166C>T (p.Thr389Ile)
c.683C>T (p.Thr228Ile)
c.578C>T (p.Thr193Ile)
3g.122262202A>CCA435424588CASRc.1167A>C (p.Thr389=)
c.684A>C (p.Thr228=)
c.579A>C (p.Thr193=)
3g.122262202A>GCA435424589CASRc.1167A>G (p.Thr389=)
c.684A>G (p.Thr228=)
c.579A>G (p.Thr193=)
3g.122262202A>TCA435424590CASRc.1167A>T (p.Thr389=)
c.684A>T (p.Thr228=)
c.579A>T (p.Thr193=)
3g.122262203G>ACA82738922CASRc.1168G>A (p.Ala390Thr)
c.685G>A (p.Ala229Thr)
c.580G>A (p.Ala194Thr)
 ClinVar dbSNP gnomAD v4
3g.122262203G>CCA354152737CASRc.1168G>C (p.Ala390Pro)
c.685G>C (p.Ala229Pro)
c.580G>C (p.Ala194Pro)
3g.122262203G=CA1397873585CASRc.1168G= (p.Ala390=)
c.685G= (p.Ala229=)
c.580G= (p.Ala194=)
3g.122262203G>TCA354152738CASRc.1168G>T (p.Ala390Ser)
c.685G>T (p.Ala229Ser)
c.580G>T (p.Ala194Ser)
3g.122262204C>ACA354152739CASRc.1169C>A (p.Ala390Asp)
c.686C>A (p.Ala229Asp)
c.581C>A (p.Ala194Asp)
 ClinVar dbSNP
3g.122262204C=CA1397873596CASRc.1169C= (p.Ala390=)
c.686C= (p.Ala229=)
c.581C= (p.Ala194=)
3g.122262204C>GCA2569607CASRc.1169C>G (p.Ala390Gly)
c.686C>G (p.Ala229Gly)
c.581C>G (p.Ala194Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262204C>TCA354152740CASRc.1169C>T (p.Ala390Val)
c.686C>T (p.Ala229Val)
c.581C>T (p.Ala194Val)
 COSMIC
3g.122262205C>ACA435424598CASRc.1170C>A (p.Ala390=)
c.687C>A (p.Ala229=)
c.582C>A (p.Ala194=)
3g.122262205C=CA1397873600CASRc.1170C= (p.Ala390=)
c.687C= (p.Ala229=)
c.582C= (p.Ala194=)
3g.122262205C>GCA435424596CASRc.1170C>G (p.Ala390=)
c.687C>G (p.Ala229=)
c.582C>G (p.Ala194=)
3g.122262205C>TCA435424594CASRc.1170C>T (p.Ala390=)
c.687C>T (p.Ala229=)
c.582C>T (p.Ala194=)
 ClinVar dbSNP
3g.122262206T>ACA354152741CASRc.1171T>A (p.Phe391Ile)
c.688T>A (p.Phe230Ile)
c.583T>A (p.Phe195Ile)
3g.122262206T>CCA354152742CASRc.1171T>C (p.Phe391Leu)
c.688T>C (p.Phe230Leu)
c.583T>C (p.Phe195Leu)
 gnomAD v4
3g.122262206T>GCA354152743CASRc.1171T>G (p.Phe391Val)
c.688T>G (p.Phe230Val)
c.583T>G (p.Phe195Val)
3g.122262207T>ACA354152746CASRc.1172T>A (p.Phe391Tyr)
c.689T>A (p.Phe230Tyr)
c.584T>A (p.Phe195Tyr)
3g.122262207T>CCA354152745CASRc.1172T>C (p.Phe391Ser)
c.689T>C (p.Phe230Ser)
c.584T>C (p.Phe195Ser)
 ClinVar dbSNP
3g.122262207T>GCA354152744CASRc.1172T>G (p.Phe391Cys)
c.689T>G (p.Phe230Cys)
c.584T>G (p.Phe195Cys)
3g.122262207T=CA1397873602CASRc.1172T= (p.Phe391=)
c.689T= (p.Phe230=)
c.584T= (p.Phe195=)
3g.122262208C>ACA354152747CASRc.1173C>A (p.Phe391Leu)
c.690C>A (p.Phe230Leu)
c.585C>A (p.Phe195Leu)
3g.122262208C=CA1397873607CASRc.1173C= (p.Phe391=)
c.690C= (p.Phe230=)
c.585C= (p.Phe195=)
3g.122262208C>GCA354152748CASRc.1173C>G (p.Phe391Leu)
c.690C>G (p.Phe230Leu)
c.585C>G (p.Phe195Leu)
3g.122262208C>TCA82738939CASRc.1173C>T (p.Phe391=)
c.690C>T (p.Phe230=)
c.585C>T (p.Phe195=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262209C>ACA435424607CASRc.1174C>A (p.Arg392=)
c.691C>A (p.Arg231=)
c.586C>A (p.Arg196=)
 ClinVar dbSNP
3g.122262209C=CA1397873611CASRc.1174C= (p.Arg392=)
c.691C= (p.Arg231=)
c.586C= (p.Arg196=)
3g.122262209C>GCA354152749CASRc.1174C>G (p.Arg392Gly)
c.691C>G (p.Arg231Gly)
c.586C>G (p.Arg196Gly)
3g.122262209C>TCA354152750CASRc.1174C>T (p.Arg392Ter)
c.691C>T (p.Arg231Ter)
c.586C>T (p.Arg196Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122262210G>ACA354152751CASRc.1175G>A (p.Arg392Gln)
c.692G>A (p.Arg231Gln)
c.587G>A (p.Arg196Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.122262210G>CCA354152752CASRc.1175G>C (p.Arg392Pro)
c.692G>C (p.Arg231Pro)
c.587G>C (p.Arg196Pro)
3g.122262210G=CA1397873622CASRc.1175G= (p.Arg392=)
c.692G= (p.Arg231=)
c.587G= (p.Arg196=)
3g.122262210G>TCA354152753CASRc.1175G>T (p.Arg392Leu)
c.692G>T (p.Arg231Leu)
c.587G>T (p.Arg196Leu)
 ClinVar dbSNP gnomAD v4
3g.122262211A=CA1397873630CASRc.1176A= (p.Arg392=)
c.693A= (p.Arg231=)
c.588A= (p.Arg196=)
3g.122262211A>CCA435424613CASRc.1176A>C (p.Arg392=)
c.693A>C (p.Arg231=)
c.588A>C (p.Arg196=)
3g.122262211A>GCA435424614CASRc.1176A>G (p.Arg392=)
c.693A>G (p.Arg231=)
c.588A>G (p.Arg196=)
 ClinVar
3g.122262211A>TCA435424615CASRc.1176A>T (p.Arg392=)
c.693A>T (p.Arg231=)
c.588A>T (p.Arg196=)
 ClinVar dbSNP
3g.122262212C>ACA354152754CASRc.1177C>A (p.Pro393Thr)
c.694C>A (p.Pro232Thr)
c.589C>A (p.Pro197Thr)
 ClinVar dbSNP gnomAD v4
3g.122262212C>GCA354152755CASRc.1177C>G (p.Pro393Ala)
c.694C>G (p.Pro232Ala)
c.589C>G (p.Pro197Ala)
3g.122262212C>TCA354152756CASRc.1177C>T (p.Pro393Ser)
c.694C>T (p.Pro232Ser)
c.589C>T (p.Pro197Ser)
 COSMIC
3g.122262213C>ACA354152757CASRc.1178C>A (p.Pro393His)
c.695C>A (p.Pro232His)
c.590C>A (p.Pro197His)
3g.122262213C>GCA354152758CASRc.1178C>G (p.Pro393Arg)
c.695C>G (p.Pro232Arg)
c.590C>G (p.Pro197Arg)
3g.122262213C>TCA354152759CASRc.1178C>T (p.Pro393Leu)
c.695C>T (p.Pro232Leu)
c.590C>T (p.Pro197Leu)
 COSMIC
3g.122262214C>ACA435424620CASRc.1179C>A (p.Pro393=)
c.696C>A (p.Pro232=)
c.591C>A (p.Pro197=)
 ClinVar dbSNP
3g.122262214C=CA1397873636CASRc.1179C= (p.Pro393=)
c.696C= (p.Pro232=)
c.591C= (p.Pro197=)
3g.122262214C>GCA435424621CASRc.1179C>G (p.Pro393=)
c.696C>G (p.Pro232=)
c.591C>G (p.Pro197=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262214C>TCA435424622CASRc.1179C>T (p.Pro393=)
c.696C>T (p.Pro232=)
c.591C>T (p.Pro197=)
 ClinVar dbSNP
3g.122262215C>ACA354152760CASRc.1180C>A (p.Leu394Ile)
c.697C>A (p.Leu233Ile)
c.592C>A (p.Leu198Ile)
3g.122262215C=CA1397873644CASRc.1180C= (p.Leu394=)
c.697C= (p.Leu233=)
c.592C= (p.Leu198=)
3g.122262215C>GCA354152761CASRc.1180C>G (p.Leu394Val)
c.697C>G (p.Leu233Val)
c.592C>G (p.Leu198Val)
 ClinVar dbSNP
3g.122262215C>TCA354152762CASRc.1180C>T (p.Leu394Phe)
c.697C>T (p.Leu233Phe)
c.592C>T (p.Leu198Phe)
 ClinVar dbSNP
3g.122262216T>ACA354152765CASRc.1181T>A (p.Leu394His)
c.698T>A (p.Leu233His)
c.593T>A (p.Leu198His)
 ClinVar dbSNP gnomAD v4
3g.122262216T>CCA354152763CASRc.1181T>C (p.Leu394Pro)
c.698T>C (p.Leu233Pro)
c.593T>C (p.Leu198Pro)
3g.122262216T>GCA354152764CASRc.1181T>G (p.Leu394Arg)
c.698T>G (p.Leu233Arg)
c.593T>G (p.Leu198Arg)
3g.122262217C>ACA435424632CASRc.1182C>A (p.Leu394=)
c.699C>A (p.Leu233=)
c.594C>A (p.Leu198=)
3g.122262217C=CA1397873649CASRc.1182C= (p.Leu394=)
c.699C= (p.Leu233=)
c.594C= (p.Leu198=)
3g.122262217C>GCA435424633CASRc.1182C>G (p.Leu394=)
c.699C>G (p.Leu233=)
c.594C>G (p.Leu198=)
3g.122262217C>TCA435424635CASRc.1182C>T (p.Leu394=)
c.699C>T (p.Leu233=)
c.594C>T (p.Leu198=)
 dbSNP
3g.122262218T>ACA354152766CASRc.1183T>A (p.Cys395Ser)
c.700T>A (p.Cys234Ser)
c.595T>A (p.Cys199Ser)
3g.122262218T>CCA16042449CASRc.1183T>C (p.Cys395Arg)
c.700T>C (p.Cys234Arg)
c.595T>C (p.Cys199Arg)
 ClinVar dbSNP gnomAD v4
3g.122262218T>GCA354152767CASRc.1183T>G (p.Cys395Gly)
c.700T>G (p.Cys234Gly)
c.595T>G (p.Cys199Gly)
3g.122262218T=CA1397873651CASRc.1183T= (p.Cys395=)
c.700T= (p.Cys234=)
c.595T= (p.Cys199=)
3g.122262219G>ACA354152768CASRc.1184G>A (p.Cys395Tyr)
c.701G>A (p.Cys234Tyr)
c.596G>A (p.Cys199Tyr)
3g.122262219G>CCA354152769CASRc.1184G>C (p.Cys395Ser)
c.701G>C (p.Cys234Ser)
c.596G>C (p.Cys199Ser)
3g.122262219G>TCA354152770CASRc.1184G>T (p.Cys395Phe)
c.701G>T (p.Cys234Phe)
c.596G>T (p.Cys199Phe)
 COSMIC
3g.122262220T>ACA354152771CASRc.1185T>A (p.Cys395Ter)
c.702T>A (p.Cys234Ter)
c.597T>A (p.Cys199Ter)
3g.122262220T>CCA435424644CASRc.1185T>C (p.Cys395=)
c.702T>C (p.Cys234=)
c.597T>C (p.Cys199=)
3g.122262220T>GCA354152772CASRc.1185T>G (p.Cys395Trp)
c.702T>G (p.Cys234Trp)
c.597T>G (p.Cys199Trp)
 gnomAD v4
3g.122262221A>CCA354152773CASRc.1186A>C (p.Thr396Pro)
c.703A>C (p.Thr235Pro)
c.598A>C (p.Thr200Pro)
3g.122262221A>GCA354152774CASRc.1186A>G (p.Thr396Ala)
c.703A>G (p.Thr235Ala)
c.598A>G (p.Thr200Ala)
3g.122262221A>TCA354152775CASRc.1186A>T (p.Thr396Ser)
c.703A>T (p.Thr235Ser)
c.598A>T (p.Thr200Ser)
3g.122262222C>ACA354152777CASRc.1187C>A (p.Thr396Lys)
c.704C>A (p.Thr235Lys)
c.599C>A (p.Thr200Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.122262222C=CA1397873657CASRc.1187C= (p.Thr396=)
c.704C= (p.Thr235=)
c.599C= (p.Thr200=)
3g.122262222C>GCA354152778CASRc.1187C>G (p.Thr396Arg)
c.704C>G (p.Thr235Arg)
c.599C>G (p.Thr200Arg)
 ClinVar dbSNP
3g.122262222C>TCA354152776CASRc.1187C>T (p.Thr396Ile)
c.704C>T (p.Thr235Ile)
c.599C>T (p.Thr200Ile)
3g.122262223A=CA1397873662CASRc.1188A= (p.Thr396=)
c.705A= (p.Thr235=)
c.600A= (p.Thr200=)
3g.122262223A>CCA435424651CASRc.1188A>C (p.Thr396=)
c.705A>C (p.Thr235=)
c.600A>C (p.Thr200=)
3g.122262223A>GCA2569608CASRc.1188A>G (p.Thr396=)
c.705A>G (p.Thr235=)
c.600A>G (p.Thr200=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262223A>TCA435424652CASRc.1188A>T (p.Thr396=)
c.705A>T (p.Thr235=)
c.600A>T (p.Thr200=)
3g.122262224G>ACA16617817CASRc.1189G>A (p.Gly397Arg)
c.706G>A (p.Gly236Arg)
c.601G>A (p.Gly201Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262224G>CCA354152779CASRc.1189G>C (p.Gly397Arg)
c.706G>C (p.Gly236Arg)
c.601G>C (p.Gly201Arg)
3g.122262224G=CA1397873664CASRc.1189G= (p.Gly397=)
c.706G= (p.Gly236=)
c.601G= (p.Gly201=)
3g.122262224G>TCA354152780CASRc.1189G>T (p.Gly397Trp)
c.706G>T (p.Gly236Trp)
c.601G>T (p.Gly201Trp)
3g.122262225G>ACA354152781CASRc.1190G>A (p.Gly397Glu)
c.707G>A (p.Gly236Glu)
c.602G>A (p.Gly201Glu)
 ClinVar dbSNP
3g.122262225G>CCA354152782CASRc.1190G>C (p.Gly397Ala)
c.707G>C (p.Gly236Ala)
c.602G>C (p.Gly201Ala)
3g.122262225G=CA1397873669CASRc.1190G= (p.Gly397=)
c.707G= (p.Gly236=)
c.602G= (p.Gly201=)
3g.122262225G>TCA354152783CASRc.1190G>T (p.Gly397Val)
c.707G>T (p.Gly236Val)
c.602G>T (p.Gly201Val)
 dbSNP gnomAD v2 gnomAD v4
3g.122262226G>ACA2569609CASRc.1191G>A (p.Gly397=)
c.708G>A (p.Gly236=)
c.603G>A (p.Gly201=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262226G>CCA435424657CASRc.1191G>C (p.Gly397=)
c.708G>C (p.Gly236=)
c.603G>C (p.Gly201=)
3g.122262226G=CA1397873671CASRc.1191G= (p.Gly397=)
c.708G= (p.Gly236=)
c.603G= (p.Gly201=)
3g.122262226G>TCA435424656CASRc.1191G>T (p.Gly397=)
c.708G>T (p.Gly236=)
c.603G>T (p.Gly201=)
 gnomAD v4
3g.122262227G>ACA216118CASRc.1192G>A (p.Asp398Asn)
c.709G>A (p.Asp237Asn)
c.604G>A (p.Asp202Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262227G>CCA354152784CASRc.1192G>C (p.Asp398His)
c.709G>C (p.Asp237His)
c.604G>C (p.Asp202His)
3g.122262227G=CA1397873674CASRc.1192G= (p.Asp398=)
c.709G= (p.Asp237=)
c.604G= (p.Asp202=)
3g.122262227G>TCA354152785CASRc.1192G>T (p.Asp398Tyr)
c.709G>T (p.Asp237Tyr)
c.604G>T (p.Asp202Tyr)
 ClinVar dbSNP
3g.122262228A=CA1397873680CASRc.1193A= (p.Asp398=)
c.710A= (p.Asp237=)
c.605A= (p.Asp202=)
3g.122262228A>CCA354152786CASRc.1193A>C (p.Asp398Ala)
c.710A>C (p.Asp237Ala)
c.605A>C (p.Asp202Ala)
3g.122262228A>GCA2569610CASRc.1193A>G (p.Asp398Gly)
c.710A>G (p.Asp237Gly)
c.605A>G (p.Asp202Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262228A>TCA354152787CASRc.1193A>T (p.Asp398Val)
c.710A>T (p.Asp237Val)
c.605A>T (p.Asp202Val)
 ClinVar dbSNP gnomAD v4
3g.122262229T>ACA354152788CASRc.1194T>A (p.Asp398Glu)
c.711T>A (p.Asp237Glu)
c.606T>A (p.Asp202Glu)
3g.122262229T>CCA435424658CASRc.1194T>C (p.Asp398=)
c.711T>C (p.Asp237=)
c.606T>C (p.Asp202=)
3g.122262229T>GCA354152789CASRc.1194T>G (p.Asp398Glu)
c.711T>G (p.Asp237Glu)
c.606T>G (p.Asp202Glu)
 gnomAD v4
3g.122262230G>ACA354152790CASRc.1195G>A (p.Glu399Lys)
c.712G>A (p.Glu238Lys)
c.607G>A (p.Glu203Lys)
3g.122262230G>CCA354152791CASRc.1195G>C (p.Glu399Gln)
c.712G>C (p.Glu238Gln)
c.607G>C (p.Glu203Gln)
3g.122262230G>TCA354152792CASRc.1195G>T (p.Glu399Ter)
c.712G>T (p.Glu238Ter)
c.607G>T (p.Glu203Ter)
3g.122262231A>CCA354152793CASRc.1196A>C (p.Glu399Ala)
c.713A>C (p.Glu238Ala)
c.608A>C (p.Glu203Ala)
3g.122262231A>GCA354152794CASRc.1196A>G (p.Glu399Gly)
c.713A>G (p.Glu238Gly)
c.608A>G (p.Glu203Gly)
3g.122262231A>TCA354152795CASRc.1196A>T (p.Glu399Val)
c.713A>T (p.Glu238Val)
c.608A>T (p.Glu203Val)
3g.122262232G>ACA435424663CASRc.1197G>A (p.Glu399=)
c.714G>A (p.Glu238=)
c.609G>A (p.Glu203=)
3g.122262232G>CCA354152796CASRc.1197G>C (p.Glu399Asp)
c.714G>C (p.Glu238Asp)
c.609G>C (p.Glu203Asp)
 COSMIC
3g.122262232G>TCA354152797CASRc.1197G>T (p.Glu399Asp)
c.714G>T (p.Glu238Asp)
c.609G>T (p.Glu203Asp)
3g.122262233A=CA1397873682CASRc.1198A= (p.Asn400=)
c.715A= (p.Asn239=)
c.610A= (p.Asn204=)
3g.122262233A>CCA354152798CASRc.1198A>C (p.Asn400His)
c.715A>C (p.Asn239His)
c.610A>C (p.Asn204His)
3g.122262233A>GCA354152799CASRc.1198A>G (p.Asn400Asp)
c.715A>G (p.Asn239Asp)
c.610A>G (p.Asn204Asp)
 ClinVar dbSNP
3g.122262233A>TCA354152800CASRc.1198A>T (p.Asn400Tyr)
c.715A>T (p.Asn239Tyr)
c.610A>T (p.Asn204Tyr)
 ClinVar
3g.122262234A=CA1397873686CASRc.1199A= (p.Asn400=)
c.716A= (p.Asn239=)
c.611A= (p.Asn204=)
3g.122262234A>CCA354152801CASRc.1199A>C (p.Asn400Thr)
c.716A>C (p.Asn239Thr)
c.611A>C (p.Asn204Thr)
3g.122262234A>GCA354152802CASRc.1199A>G (p.Asn400Ser)
c.716A>G (p.Asn239Ser)
c.611A>G (p.Asn204Ser)
 dbSNP
3g.122262234A>TCA2569611CASRc.1199A>T (p.Asn400Ile)
c.716A>T (p.Asn239Ile)
c.611A>T (p.Asn204Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262235C>ACA354152803CASRc.1200C>A (p.Asn400Lys)
c.717C>A (p.Asn239Lys)
c.612C>A (p.Asn204Lys)
3g.122262235C>GCA354152804CASRc.1200C>G (p.Asn400Lys)
c.717C>G (p.Asn239Lys)
c.612C>G (p.Asn204Lys)
3g.122262235C>TCA435424667CASRc.1200C>T (p.Asn400=)
c.717C>T (p.Asn239=)
c.612C>T (p.Asn204=)
3g.122262236A>CCA354152805CASRc.1201A>C (p.Ile401Leu)
c.718A>C (p.Ile240Leu)
c.613A>C (p.Ile205Leu)
3g.122262236A>GCA354152807CASRc.1201A>G (p.Ile401Val)
c.718A>G (p.Ile240Val)
c.613A>G (p.Ile205Val)
3g.122262236A>TCA354152806CASRc.1201A>T (p.Ile401Phe)
c.718A>T (p.Ile240Phe)
c.613A>T (p.Ile205Phe)
3g.122262237T>ACA354152808CASRc.1202T>A (p.Ile401Asn)
c.719T>A (p.Ile240Asn)
c.614T>A (p.Ile205Asn)
3g.122262237T>CCA354152809CASRc.1202T>C (p.Ile401Thr)
c.719T>C (p.Ile240Thr)
c.614T>C (p.Ile205Thr)
3g.122262237T>GCA354152810CASRc.1202T>G (p.Ile401Ser)
c.719T>G (p.Ile240Ser)
c.614T>G (p.Ile205Ser)
3g.122262238C>ACA435424674CASRc.1203C>A (p.Ile401=)
c.720C>A (p.Ile240=)
c.615C>A (p.Ile205=)
3g.122262238C>GCA354152811CASRc.1203C>G (p.Ile401Met)
c.720C>G (p.Ile240Met)
c.615C>G (p.Ile205Met)
3g.122262238C>TCA435424675CASRc.1203C>T (p.Ile401=)
c.720C>T (p.Ile240=)
c.615C>T (p.Ile205=)
3g.122262239A>CCA354152812CASRc.1204A>C (p.Ser402Arg)
c.721A>C (p.Ser241Arg)
c.616A>C (p.Ser206Arg)
3g.122262239A>GCA354152813CASRc.1204A>G (p.Ser402Gly)
c.721A>G (p.Ser241Gly)
c.616A>G (p.Ser206Gly)
 ClinVar gnomAD v4
3g.122262239A>TCA354152814CASRc.1204A>T (p.Ser402Cys)
c.721A>T (p.Ser241Cys)
c.616A>T (p.Ser206Cys)
3g.122262240G>ACA354152815CASRc.1205G>A (p.Ser402Asn)
c.722G>A (p.Ser241Asn)
c.617G>A (p.Ser206Asn)
 ClinVar dbSNP gnomAD v4
3g.122262240G>CCA354152816CASRc.1205G>C (p.Ser402Thr)
c.722G>C (p.Ser241Thr)
c.617G>C (p.Ser206Thr)
3g.122262240G=CA1397873689CASRc.1205G= (p.Ser402=)
c.722G= (p.Ser241=)
c.617G= (p.Ser206=)
3g.122262240G>TCA354152817CASRc.1205G>T (p.Ser402Ile)
c.722G>T (p.Ser241Ile)
c.617G>T (p.Ser206Ile)
3g.122262241C>ACA354152818CASRc.1206C>A (p.Ser402Arg)
c.723C>A (p.Ser241Arg)
c.618C>A (p.Ser206Arg)
3g.122262241C=CA1397873693CASRc.1206C= (p.Ser402=)
c.723C= (p.Ser241=)
c.618C= (p.Ser206=)
3g.122262241C>GCA2569612CASRc.1206C>G (p.Ser402Arg)
c.723C>G (p.Ser241Arg)
c.618C>G (p.Ser206Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262241C>TCA435424678CASRc.1206C>T (p.Ser402=)
c.723C>T (p.Ser241=)
c.618C>T (p.Ser206=)
 gnomAD v4
3g.122262242A=CA1397873701CASRc.1207A= (p.Ser403=)
c.724A= (p.Ser242=)
c.619A= (p.Ser207=)
3g.122262242A>CCA354152820CASRc.1207A>C (p.Ser403Arg)
c.724A>C (p.Ser242Arg)
c.619A>C (p.Ser207Arg)
 ClinVar dbSNP gnomAD v4
3g.122262242A>GCA354152819CASRc.1207A>G (p.Ser403Gly)
c.724A>G (p.Ser242Gly)
c.619A>G (p.Ser207Gly)
 ClinVar
3g.122262242A>TCA2569613CASRc.1207A>T (p.Ser403Cys)
c.724A>T (p.Ser242Cys)
c.619A>T (p.Ser207Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262243G>ACA354152821CASRc.1208G>A (p.Ser403Asn)
c.725G>A (p.Ser242Asn)
c.620G>A (p.Ser207Asn)
 gnomAD v4
3g.122262243G>CCA354152822CASRc.1208G>C (p.Ser403Thr)
c.725G>C (p.Ser242Thr)
c.620G>C (p.Ser207Thr)
3g.122262243G>TCA354152823CASRc.1208G>T (p.Ser403Ile)
c.725G>T (p.Ser242Ile)
c.620G>T (p.Ser207Ile)
3g.122262244T>ACA354152824CASRc.1209T>A (p.Ser403Arg)
c.726T>A (p.Ser242Arg)
c.621T>A (p.Ser207Arg)
3g.122262244T>CCA216120CASRc.1209T>C (p.Ser403=)
c.726T>C (p.Ser242=)
c.621T>C (p.Ser207=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262244T>GCA354152825CASRc.1209T>G (p.Ser403Arg)
c.726T>G (p.Ser242Arg)
c.621T>G (p.Ser207Arg)
 ClinVar dbSNP gnomAD v4
3g.122262244T=CA1397873708CASRc.1209T= (p.Ser403=)
c.726T= (p.Ser242=)
c.621T= (p.Ser207=)
3g.122262245G>ACA354152826CASRc.1210G>A (p.Val404Ile)
c.727G>A (p.Val243Ile)
c.622G>A (p.Val208Ile)
3g.122262245G>CCA354152827CASRc.1210G>C (p.Val404Leu)
c.727G>C (p.Val243Leu)
c.622G>C (p.Val208Leu)
3g.122262245G>TCA354152828CASRc.1210G>T (p.Val404Phe)
c.727G>T (p.Val243Phe)
c.622G>T (p.Val208Phe)
3g.122262246T>ACA354152829CASRc.1211T>A (p.Val404Asp)
c.728T>A (p.Val243Asp)
c.623T>A (p.Val208Asp)
3g.122262246T>CCA354152830CASRc.1211T>C (p.Val404Ala)
c.728T>C (p.Val243Ala)
c.623T>C (p.Val208Ala)
3g.122262246T>GCA354152831CASRc.1211T>G (p.Val404Gly)
c.728T>G (p.Val243Gly)
c.623T>G (p.Val208Gly)
 ClinVar dbSNP
3g.122262246T=CA1397873713CASRc.1211T= (p.Val404=)
c.728T= (p.Val243=)
c.623T= (p.Val208=)
3g.122262247C>ACA435424687CASRc.1212C>A (p.Val404=)
c.729C>A (p.Val243=)
c.624C>A (p.Val208=)
3g.122262247C=CA1397873720CASRc.1212C= (p.Val404=)
c.729C= (p.Val243=)
c.624C= (p.Val208=)
3g.122262247C>GCA16611297CASRc.1212C>G (p.Val404=)
c.729C>G (p.Val243=)
c.624C>G (p.Val208=)
 ClinVar dbSNP gnomAD v4
3g.122262247C>TCA82739001CASRc.1212C>T (p.Val404=)
c.729C>T (p.Val243=)
c.624C>T (p.Val208=)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122262248G>ACA82739006CASRc.1213G>A (p.Glu405Lys)
c.730G>A (p.Glu244Lys)
c.625G>A (p.Glu209Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262248G>CCA354152833CASRc.1213G>C (p.Glu405Gln)
c.730G>C (p.Glu244Gln)
c.625G>C (p.Glu209Gln)
3g.122262248G=CA1397873728CASRc.1213G= (p.Glu405=)
c.730G= (p.Glu244=)
c.625G= (p.Glu209=)
3g.122262248G>TCA354152832CASRc.1213G>T (p.Glu405Ter)
c.730G>T (p.Glu244Ter)
c.625G>T (p.Glu209Ter)
3g.122262249A=CA1397873732CASRc.1214A= (p.Glu405=)
c.731A= (p.Glu244=)
c.626A= (p.Glu209=)
3g.122262249A>CCA354152834CASRc.1214A>C (p.Glu405Ala)
c.731A>C (p.Glu244Ala)
c.626A>C (p.Glu209Ala)
3g.122262249A>GCA354152835CASRc.1214A>G (p.Glu405Gly)
c.731A>G (p.Glu244Gly)
c.626A>G (p.Glu209Gly)
 ClinVar dbSNP
3g.122262249A>TCA354152836CASRc.1214A>T (p.Glu405Val)
c.731A>T (p.Glu244Val)
c.626A>T (p.Glu209Val)
3g.122262250G>ACA435424691CASRc.1215G>A (p.Glu405=)
c.732G>A (p.Glu244=)
c.627G>A (p.Glu209=)
3g.122262250G>CCA354152837CASRc.1215G>C (p.Glu405Asp)
c.732G>C (p.Glu244Asp)
c.627G>C (p.Glu209Asp)
 gnomAD v4
3g.122262250G>TCA354152838CASRc.1215G>T (p.Glu405Asp)
c.732G>T (p.Glu244Asp)
c.627G>T (p.Glu209Asp)
3g.122262251A>CCA354152841CASRc.1216A>C (p.Thr406Pro)
c.733A>C (p.Thr245Pro)
c.628A>C (p.Thr210Pro)
3g.122262251A>GCA354152840CASRc.1216A>G (p.Thr406Ala)
c.733A>G (p.Thr245Ala)
c.628A>G (p.Thr210Ala)
3g.122262251A>TCA354152839CASRc.1216A>T (p.Thr406Ser)
c.733A>T (p.Thr245Ser)
c.628A>T (p.Thr210Ser)
3g.122262252C>ACA354152842CASRc.1217C>A (p.Thr406Asn)
c.734C>A (p.Thr245Asn)
c.629C>A (p.Thr210Asn)
3g.122262252C>GCA354152843CASRc.1217C>G (p.Thr406Ser)
c.734C>G (p.Thr245Ser)
c.629C>G (p.Thr210Ser)
3g.122262252C>TCA354152844CASRc.1217C>T (p.Thr406Ile)
c.734C>T (p.Thr245Ile)
c.629C>T (p.Thr210Ile)
3g.122262253C>ACA435424698CASRc.1218C>A (p.Thr406=)
c.735C>A (p.Thr245=)
c.630C>A (p.Thr210=)
 ClinVar gnomAD v4
3g.122262253C>GCA435424697CASRc.1218C>G (p.Thr406=)
c.735C>G (p.Thr245=)
c.630C>G (p.Thr210=)
 ClinVar
3g.122262253C>TCA435424696CASRc.1218C>T (p.Thr406=)
c.735C>T (p.Thr245=)
c.630C>T (p.Thr210=)
3g.122262253_122262254delinsAGCA645532163CASRc.1218_1219delinsAG (p.Pro407Ala)
c.735_736delinsAG (p.Pro246Ala)
c.630_631delinsAG (p.Pro211Ala)
 COSMIC
3g.122262254C>ACA354152845CASRc.1219C>A (p.Pro407Thr)
c.736C>A (p.Pro246Thr)
c.631C>A (p.Pro211Thr)
3g.122262254C=CA1397873735CASRc.1219C= (p.Pro407=)
c.736C= (p.Pro246=)
c.631C= (p.Pro211=)
3g.122262254C>GCA82739012CASRc.1219C>G (p.Pro407Ala)
c.736C>G (p.Pro246Ala)
c.631C>G (p.Pro211Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262254C>TCA354152846CASRc.1219C>T (p.Pro407Ser)
c.736C>T (p.Pro246Ser)
c.631C>T (p.Pro211Ser)
3g.122262255C>ACA354152847CASRc.1220C>A (p.Pro407His)
c.737C>A (p.Pro246His)
c.632C>A (p.Pro211His)
3g.122262255C>GCA354152849CASRc.1220C>G (p.Pro407Arg)
c.737C>G (p.Pro246Arg)
c.632C>G (p.Pro211Arg)
 gnomAD v4
3g.122262255C>TCA354152848CASRc.1220C>T (p.Pro407Leu)
c.737C>T (p.Pro246Leu)
c.632C>T (p.Pro211Leu)
3g.122262256T>ACA435424705CASRc.1221T>A (p.Pro407=)
c.738T>A (p.Pro246=)
c.633T>A (p.Pro211=)
3g.122262256T>CCA435424706CASRc.1221T>C (p.Pro407=)
c.738T>C (p.Pro246=)
c.633T>C (p.Pro211=)
3g.122262256T>GCA435424708CASRc.1221T>G (p.Pro407=)
c.738T>G (p.Pro246=)
c.633T>G (p.Pro211=)
3g.122262257T>ACA354152850CASRc.1222T>A (p.Tyr408Asn)
c.739T>A (p.Tyr247Asn)
c.634T>A (p.Tyr212Asn)
3g.122262257T>CCA354152851CASRc.1222T>C (p.Tyr408His)
c.739T>C (p.Tyr247His)
c.634T>C (p.Tyr212His)
3g.122262257T>GCA354152852CASRc.1222T>G (p.Tyr408Asp)
c.739T>G (p.Tyr247Asp)
c.634T>G (p.Tyr212Asp)
3g.122262258A=CA1397873741CASRc.1223A= (p.Tyr408=)
c.740A= (p.Tyr247=)
c.635A= (p.Tyr212=)
3g.122262258A>CCA354152853CASRc.1223A>C (p.Tyr408Ser)
c.740A>C (p.Tyr247Ser)
c.635A>C (p.Tyr212Ser)
3g.122262258A>GCA354152854CASRc.1223A>G (p.Tyr408Cys)
c.740A>G (p.Tyr247Cys)
c.635A>G (p.Tyr212Cys)
 ClinVar dbSNP
3g.122262258A>TCA354152855CASRc.1223A>T (p.Tyr408Phe)
c.740A>T (p.Tyr247Phe)
c.635A>T (p.Tyr212Phe)
3g.122262259C>ACA354152856CASRc.1224C>A (p.Tyr408Ter)
c.741C>A (p.Tyr247Ter)
c.636C>A (p.Tyr212Ter)
3g.122262259C>GCA354152857CASRc.1224C>G (p.Tyr408Ter)
c.741C>G (p.Tyr247Ter)
c.636C>G (p.Tyr212Ter)
3g.122262259C>TCA435424712CASRc.1224C>T (p.Tyr408=)
c.741C>T (p.Tyr247=)
c.636C>T (p.Tyr212=)
 ClinVar dbSNP
3g.122262260A=CA1397873744CASRc.1225A= (p.Ile409=)
c.742A= (p.Ile248=)
c.637A= (p.Ile213=)
3g.122262260A>CCA354152858CASRc.1225A>C (p.Ile409Leu)
c.742A>C (p.Ile248Leu)
c.637A>C (p.Ile213Leu)
 ClinVar gnomAD v4
3g.122262260A>GCA354152859CASRc.1225A>G (p.Ile409Val)
c.742A>G (p.Ile248Val)
c.637A>G (p.Ile213Val)
 ClinVar dbSNP gnomAD v4
3g.122262260A>TCA354152860CASRc.1225A>T (p.Ile409Leu)
c.742A>T (p.Ile248Leu)
c.637A>T (p.Ile213Leu)
3g.122262261T>ACA354152861CASRc.1226T>A (p.Ile409Lys)
c.743T>A (p.Ile248Lys)
c.638T>A (p.Ile213Lys)
3g.122262261T>CCA354152863CASRc.1226T>C (p.Ile409Thr)
c.743T>C (p.Ile248Thr)
c.638T>C (p.Ile213Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262261T>GCA354152862CASRc.1226T>G (p.Ile409Arg)
c.743T>G (p.Ile248Arg)
c.638T>G (p.Ile213Arg)
3g.122262261T=CA1397873751CASRc.1226T= (p.Ile409=)
c.743T= (p.Ile248=)
c.638T= (p.Ile213=)
3g.122262262A>CCA435424718CASRc.1227A>C (p.Ile409=)
c.744A>C (p.Ile248=)
c.639A>C (p.Ile213=)
3g.122262262A>GCA354152864CASRc.1227A>G (p.Ile409Met)
c.744A>G (p.Ile248Met)
c.639A>G (p.Ile213Met)
3g.122262262A>TCA435424719CASRc.1227A>T (p.Ile409=)
c.744A>T (p.Ile248=)
c.639A>T (p.Ile213=)
3g.122262263G>ACA354152866CASRc.1228G>A (p.Asp410Asn)
c.745G>A (p.Asp249Asn)
c.640G>A (p.Asp214Asn)
3g.122262263G>CCA354152865CASRc.1228G>C (p.Asp410His)
c.745G>C (p.Asp249His)
c.640G>C (p.Asp214His)
3g.122262263G>TCA354152867CASRc.1228G>T (p.Asp410Tyr)
c.745G>T (p.Asp249Tyr)
c.640G>T (p.Asp214Tyr)
 gnomAD v4
3g.122262264A>CCA354152868CASRc.1229A>C (p.Asp410Ala)
c.746A>C (p.Asp249Ala)
c.641A>C (p.Asp214Ala)
3g.122262264A>GCA354152869CASRc.1229A>G (p.Asp410Gly)
c.746A>G (p.Asp249Gly)
c.641A>G (p.Asp214Gly)
3g.122262264A>TCA354152870CASRc.1229A>T (p.Asp410Val)
c.746A>T (p.Asp249Val)
c.641A>T (p.Asp214Val)
3g.122262265T>ACA354152871CASRc.1230T>A (p.Asp410Glu)
c.747T>A (p.Asp249Glu)
c.642T>A (p.Asp214Glu)
3g.122262265T>CCA435424725CASRc.1230T>C (p.Asp410=)
c.747T>C (p.Asp249=)
c.642T>C (p.Asp214=)
3g.122262265T>GCA354152872CASRc.1230T>G (p.Asp410Glu)
c.747T>G (p.Asp249Glu)
c.642T>G (p.Asp214Glu)
3g.122262266T>ACA354152873CASRc.1231T>A (p.Tyr411Asn)
c.748T>A (p.Tyr250Asn)
c.643T>A (p.Tyr215Asn)
 ClinVar
3g.122262266T>CCA354152874CASRc.1231T>C (p.Tyr411His)
c.748T>C (p.Tyr250His)
c.643T>C (p.Tyr215His)
3g.122262266T>GCA354152875CASRc.1231T>G (p.Tyr411Asp)
c.748T>G (p.Tyr250Asp)
c.643T>G (p.Tyr215Asp)
 ClinVar
3g.122262267A>CCA354152876CASRc.1232A>C (p.Tyr411Ser)
c.749A>C (p.Tyr250Ser)
c.644A>C (p.Tyr215Ser)
 ClinVar
3g.122262267A>GCA354152877CASRc.1232A>G (p.Tyr411Cys)
c.749A>G (p.Tyr250Cys)
c.644A>G (p.Tyr215Cys)
 ClinVar
3g.122262267A>TCA354152878CASRc.1232A>T (p.Tyr411Phe)
c.749A>T (p.Tyr250Phe)
c.644A>T (p.Tyr215Phe)
3g.122262268C>ACA354152879CASRc.1233C>A (p.Tyr411Ter)
c.750C>A (p.Tyr250Ter)
c.645C>A (p.Tyr215Ter)
3g.122262268C>GCA354152880CASRc.1233C>G (p.Tyr411Ter)
c.750C>G (p.Tyr250Ter)
c.645C>G (p.Tyr215Ter)
3g.122262268C>TCA435424730CASRc.1233C>T (p.Tyr411=)
c.750C>T (p.Tyr250=)
c.645C>T (p.Tyr215=)
 ClinVar dbSNP gnomAD v4
3g.122262269A=CA1397873755CASRc.1234A= (p.Thr412=)
c.751A= (p.Thr251=)
c.646A= (p.Thr216=)
3g.122262269A>CCA354152881CASRc.1234A>C (p.Thr412Pro)
c.751A>C (p.Thr251Pro)
c.646A>C (p.Thr216Pro)
3g.122262269A>GCA354152883CASRc.1234A>G (p.Thr412Ala)
c.751A>G (p.Thr251Ala)
c.646A>G (p.Thr216Ala)
 ClinVar dbSNP gnomAD v4
3g.122262269A>TCA354152882CASRc.1234A>T (p.Thr412Ser)
c.751A>T (p.Thr251Ser)
c.646A>T (p.Thr216Ser)
3g.122262270C>ACA354152884CASRc.1235C>A (p.Thr412Lys)
c.752C>A (p.Thr251Lys)
c.647C>A (p.Thr216Lys)
3g.122262270C=CA1397873758CASRc.1235C= (p.Thr412=)
c.752C= (p.Thr251=)
c.647C= (p.Thr216=)
3g.122262270C>GCA354152885CASRc.1235C>G (p.Thr412Arg)
c.752C>G (p.Thr251Arg)
c.647C>G (p.Thr216Arg)
3g.122262270C>TCA354152886CASRc.1235C>T (p.Thr412Met)
c.752C>T (p.Thr251Met)
c.647C>T (p.Thr216Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262271G>ACA435424731CASRc.1236G>A (p.Thr412=)
c.753G>A (p.Thr251=)
c.648G>A (p.Thr216=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262271G>CCA435424734CASRc.1236G>C (p.Thr412=)
c.753G>C (p.Thr251=)
c.648G>C (p.Thr216=)
 ClinVar
3g.122262271G=CA1397873766CASRc.1236G= (p.Thr412=)
c.753G= (p.Thr251=)
c.648G= (p.Thr216=)
3g.122262271G>TCA82739016CASRc.1236G>T (p.Thr412=)
c.753G>T (p.Thr251=)
c.648G>T (p.Thr216=)
 ClinVar dbSNP gnomAD v4
3g.122262272C>ACA354152887CASRc.1237C>A (p.His413Asn)
c.754C>A (p.His252Asn)
c.649C>A (p.His217Asn)
3g.122262272C>GCA354152888CASRc.1237C>G (p.His413Asp)
c.754C>G (p.His252Asp)
c.649C>G (p.His217Asp)
3g.122262272C>TCA354152889CASRc.1237C>T (p.His413Tyr)
c.754C>T (p.His252Tyr)
c.649C>T (p.His217Tyr)
 ClinVar dbSNP
3g.122262273A=CA1397873773CASRc.1238A= (p.His413=)
c.755A= (p.His252=)
c.650A= (p.His217=)
3g.122262273A>CCA354152890CASRc.1238A>C (p.His413Pro)
c.755A>C (p.His252Pro)
c.650A>C (p.His217Pro)
3g.122262273A>GCA354152891CASRc.1238A>G (p.His413Arg)
c.755A>G (p.His252Arg)
c.650A>G (p.His217Arg)
 gnomAD v4
3g.122262273A>TCA354152892CASRc.1238A>T (p.His413Leu)
c.755A>T (p.His252Leu)
c.650A>T (p.His217Leu)
 ClinVar dbSNP gnomAD v4
3g.122262274T>ACA354152894CASRc.1239T>A (p.His413Gln)
c.756T>A (p.His252Gln)
c.651T>A (p.His217Gln)
3g.122262274T>CCA435424736CASRc.1239T>C (p.His413=)
c.756T>C (p.His252=)
c.651T>C (p.His217=)
3g.122262274T>GCA354152893CASRc.1239T>G (p.His413Gln)
c.756T>G (p.His252Gln)
c.651T>G (p.His217Gln)
3g.122262275T>ACA354152895CASRc.1240T>A (p.Leu414Ile)
c.757T>A (p.Leu253Ile)
c.652T>A (p.Leu218Ile)
3g.122262275T>CCA435424737CASRc.1240T>C (p.Leu414=)
c.757T>C (p.Leu253=)
c.652T>C (p.Leu218=)
3g.122262275T>GCA354152896CASRc.1240T>G (p.Leu414Val)
c.757T>G (p.Leu253Val)
c.652T>G (p.Leu218Val)
3g.122262276T>ACA354152897CASRc.1241T>A (p.Leu414Ter)
c.758T>A (p.Leu253Ter)
c.653T>A (p.Leu218Ter)
3g.122262276T>CCA354152898CASRc.1241T>C (p.Leu414Ser)
c.758T>C (p.Leu253Ser)
c.653T>C (p.Leu218Ser)
3g.122262276T>GCA354152899CASRc.1241T>G (p.Leu414Ter)
c.758T>G (p.Leu253Ter)
c.653T>G (p.Leu218Ter)
3g.122262277A>CCA354152900CASRc.1242A>C (p.Leu414Phe)
c.759A>C (p.Leu253Phe)
c.654A>C (p.Leu218Phe)
3g.122262277A>GCA435424742CASRc.1242A>G (p.Leu414=)
c.759A>G (p.Leu253=)
c.654A>G (p.Leu218=)
3g.122262277A>TCA354152901CASRc.1242A>T (p.Leu414Phe)
c.759A>T (p.Leu253Phe)
c.654A>T (p.Leu218Phe)
3g.122262278C>ACA435424744CASRc.1243C>A (p.Arg415=)
c.760C>A (p.Arg254=)
c.655C>A (p.Arg219=)
3g.122262278C=CA1397873778CASRc.1243C= (p.Arg415=)
c.760C= (p.Arg254=)
c.655C= (p.Arg219=)
3g.122262278C>GCA354152902CASRc.1243C>G (p.Arg415Gly)
c.760C>G (p.Arg254Gly)
c.655C>G (p.Arg219Gly)
3g.122262278C>TCA354152903CASRc.1243C>T (p.Arg415Trp)
c.760C>T (p.Arg254Trp)
c.655C>T (p.Arg219Trp)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122262279G>ACA213561CASRc.1244G>A (p.Arg415Gln)
c.761G>A (p.Arg254Gln)
c.656G>A (p.Arg219Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262279G>CCA354152904CASRc.1244G>C (p.Arg415Pro)
c.761G>C (p.Arg254Pro)
c.656G>C (p.Arg219Pro)
3g.122262279G=CA1397873783CASRc.1244G= (p.Arg415=)
c.761G= (p.Arg254=)
c.656G= (p.Arg219=)
3g.122262279G>TCA354152905CASRc.1244G>T (p.Arg415Leu)
c.761G>T (p.Arg254Leu)
c.656G>T (p.Arg219Leu)
3g.122262280G>ACA435424749CASRc.1245G>A (p.Arg415=)
c.762G>A (p.Arg254=)
c.657G>A (p.Arg219=)
 ClinVar
3g.122262280G>CCA435424752CASRc.1245G>C (p.Arg415=)
c.762G>C (p.Arg254=)
c.657G>C (p.Arg219=)
3g.122262280G>TCA435424754CASRc.1245G>T (p.Arg415=)
c.762G>T (p.Arg254=)
c.657G>T (p.Arg219=)
3g.122262281A>CCA354152907CASRc.1246A>C (p.Ile416Leu)
c.763A>C (p.Ile255Leu)
c.658A>C (p.Ile220Leu)
3g.122262281A>GCA354152908CASRc.1246A>G (p.Ile416Val)
c.763A>G (p.Ile255Val)
c.658A>G (p.Ile220Val)
3g.122262281A>TCA354152906CASRc.1246A>T (p.Ile416Leu)
c.763A>T (p.Ile255Leu)
c.658A>T (p.Ile220Leu)
3g.122262282T>ACA354152909CASRc.1247T>A (p.Ile416Lys)
c.764T>A (p.Ile255Lys)
c.659T>A (p.Ile220Lys)
3g.122262282T>CCA354152910CASRc.1247T>C (p.Ile416Thr)
c.764T>C (p.Ile255Thr)
c.659T>C (p.Ile220Thr)
3g.122262282T>GCA354152911CASRc.1247T>G (p.Ile416Arg)
c.764T>G (p.Ile255Arg)
c.659T>G (p.Ile220Arg)
3g.122262283A=CA1397873791CASRc.1248A= (p.Ile416=)
c.765A= (p.Ile255=)
c.660A= (p.Ile220=)
3g.122262283A>CCA435424759CASRc.1248A>C (p.Ile416=)
c.765A>C (p.Ile255=)
c.660A>C (p.Ile220=)
 dbSNP gnomAD v2
3g.122262283A>GCA354152912CASRc.1248A>G (p.Ile416Met)
c.765A>G (p.Ile255Met)
c.660A>G (p.Ile220Met)
3g.122262283A>TCA435424762CASRc.1248A>T (p.Ile416=)
c.765A>T (p.Ile255=)
c.660A>T (p.Ile220=)
3g.122262284T>ACA354152915CASRc.1249T>A (p.Ser417Thr)
c.766T>A (p.Ser256Thr)
c.661T>A (p.Ser221Thr)
 ClinVar
3g.122262284T>CCA354152914CASRc.1249T>C (p.Ser417Pro)
c.766T>C (p.Ser256Pro)
c.661T>C (p.Ser221Pro)
3g.122262284T>GCA354152913CASRc.1249T>G (p.Ser417Ala)
c.766T>G (p.Ser256Ala)
c.661T>G (p.Ser221Ala)
3g.122262285C>ACA354152916CASRc.1250C>A (p.Ser417Tyr)
c.767C>A (p.Ser256Tyr)
c.662C>A (p.Ser221Tyr)
3g.122262285C=CA1397873797CASRc.1250C= (p.Ser417=)
c.767C= (p.Ser256=)
c.662C= (p.Ser221=)
3g.122262285C>GCA354152917CASRc.1250C>G (p.Ser417Cys)
c.767C>G (p.Ser256Cys)
c.662C>G (p.Ser221Cys)
 ClinVar dbSNP gnomAD v4
3g.122262285C>TCA354152918CASRc.1250C>T (p.Ser417Phe)
c.767C>T (p.Ser256Phe)
c.662C>T (p.Ser221Phe)
 COSMIC

Number of alleles fetched