Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122262131G>ACA354152583CASRc.1096G>A (p.Gly366Arg)
c.613G>A (p.Gly205Arg)
c.508G>A (p.Gly170Arg)
 ClinVar dbSNP COSMIC
3g.122262131G>CCA354152582CASRc.1096G>C (p.Gly366Arg)
c.613G>C (p.Gly205Arg)
c.508G>C (p.Gly170Arg)
3g.122262131G=CA1397873407CASRc.1096G= (p.Gly366=)
c.613G= (p.Gly205=)
c.508G= (p.Gly170=)
3g.122262131G>TCA354152581CASRc.1096G>T (p.Gly366Ter)
c.613G>T (p.Gly205Ter)
c.508G>T (p.Gly170Ter)
3g.122262132G>ACA2569590CASRc.1097G>A (p.Gly366Glu)
c.614G>A (p.Gly205Glu)
c.509G>A (p.Gly170Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262132G>CCA354152585CASRc.1097G>C (p.Gly366Ala)
c.614G>C (p.Gly205Ala)
c.509G>C (p.Gly170Ala)
3g.122262132G=CA1397873410CASRc.1097G= (p.Gly366=)
c.614G= (p.Gly205=)
c.509G= (p.Gly170=)
3g.122262132G>TCA354152584CASRc.1097G>T (p.Gly366Val)
c.614G>T (p.Gly205Val)
c.509G>T (p.Gly170Val)
 ClinVar
3g.122262133A>CCA435425215CASRc.1098A>C (p.Gly366=)
c.615A>C (p.Gly205=)
c.510A>C (p.Gly170=)
3g.122262133A>GCA435425217CASRc.1098A>G (p.Gly366=)
c.615A>G (p.Gly205=)
c.510A>G (p.Gly170=)
 gnomAD v4
3g.122262133A>TCA435425218CASRc.1098A>T (p.Gly366=)
c.615A>T (p.Gly205=)
c.510A>T (p.Gly170=)
3g.122262134C>ACA354152586CASRc.1099C>A (p.Pro367Thr)
c.616C>A (p.Pro206Thr)
c.511C>A (p.Pro171Thr)
3g.122262134C=CA1397873413CASRc.1099C= (p.Pro367=)
c.616C= (p.Pro206=)
c.511C= (p.Pro171=)
3g.122262134C>GCA354152587CASRc.1099C>G (p.Pro367Ala)
c.616C>G (p.Pro206Ala)
c.511C>G (p.Pro171Ala)
3g.122262134C>TCA2569591CASRc.1099C>T (p.Pro367Ser)
c.616C>T (p.Pro206Ser)
c.511C>T (p.Pro171Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262135C>ACA354152588CASRc.1100C>A (p.Pro367His)
c.617C>A (p.Pro206His)
c.512C>A (p.Pro171His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262135C=CA1397873416CASRc.1100C= (p.Pro367=)
c.617C= (p.Pro206=)
c.512C= (p.Pro171=)
3g.122262135C>GCA354152589CASRc.1100C>G (p.Pro367Arg)
c.617C>G (p.Pro206Arg)
c.512C>G (p.Pro171Arg)
3g.122262135C>TCA354152590CASRc.1100C>T (p.Pro367Leu)
c.617C>T (p.Pro206Leu)
c.512C>T (p.Pro171Leu)
 ClinVar gnomAD v4
3g.122262136T>ACA435425231CASRc.1101T>A (p.Pro367=)
c.618T>A (p.Pro206=)
c.513T>A (p.Pro171=)
3g.122262136T>CCA435425226CASRc.1101T>C (p.Pro367=)
c.618T>C (p.Pro206=)
c.513T>C (p.Pro171=)
3g.122262136T>GCA435425229CASRc.1101T>G (p.Pro367=)
c.618T>G (p.Pro206=)
c.513T>G (p.Pro171=)
3g.122262137T>ACA354152591CASRc.1102T>A (p.Leu368Ile)
c.619T>A (p.Leu207Ile)
c.514T>A (p.Leu172Ile)
3g.122262137T>CCA435425232CASRc.1102T>C (p.Leu368=)
c.619T>C (p.Leu207=)
c.514T>C (p.Leu172=)
3g.122262137T>GCA354152592CASRc.1102T>G (p.Leu368Val)
c.619T>G (p.Leu207Val)
c.514T>G (p.Leu172Val)
3g.122262138T>ACA354152593CASRc.1103T>A (p.Leu368Ter)
c.620T>A (p.Leu207Ter)
c.515T>A (p.Leu172Ter)
3g.122262138T>CCA354152594CASRc.1103T>C (p.Leu368Ser)
c.620T>C (p.Leu207Ser)
c.515T>C (p.Leu172Ser)
 ClinVar dbSNP
3g.122262138T>GCA354152595CASRc.1103T>G (p.Leu368Ter)
c.620T>G (p.Leu207Ter)
c.515T>G (p.Leu172Ter)
 ClinVar
3g.122262138T=CA1397873420CASRc.1103T= (p.Leu368=)
c.620T= (p.Leu207=)
c.515T= (p.Leu172=)
3g.122262139A>CCA354152597CASRc.1104A>C (p.Leu368Phe)
c.621A>C (p.Leu207Phe)
c.516A>C (p.Leu172Phe)
3g.122262139A>GCA435425240CASRc.1104A>G (p.Leu368=)
c.621A>G (p.Leu207=)
c.516A>G (p.Leu172=)
3g.122262139A>TCA354152596CASRc.1104A>T (p.Leu368Phe)
c.621A>T (p.Leu207Phe)
c.516A>T (p.Leu172Phe)
3g.122262139_122262140delCA2586972808CASRc.1104_1105del (p.Leu368PhefsTer17)
c.621_622del (p.Leu207PhefsTer17)
c.516_517del (p.Leu172PhefsTer17)
3g.122262140C>ACA354152598CASRc.1105C>A (p.Pro369Thr)
c.622C>A (p.Pro208Thr)
c.517C>A (p.Pro173Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262140C=CA1397873426CASRc.1105C= (p.Pro369=)
c.622C= (p.Pro208=)
c.517C= (p.Pro173=)
3g.122262140C>GCA354152599CASRc.1105C>G (p.Pro369Ala)
c.622C>G (p.Pro208Ala)
c.517C>G (p.Pro173Ala)
3g.122262140C>TCA354152600CASRc.1105C>T (p.Pro369Ser)
c.622C>T (p.Pro208Ser)
c.517C>T (p.Pro173Ser)
 ClinVar dbSNP
3g.122262141C>ACA354152601CASRc.1106C>A (p.Pro369His)
c.623C>A (p.Pro208His)
c.518C>A (p.Pro173His)
3g.122262141C>GCA354152602CASRc.1106C>G (p.Pro369Arg)
c.623C>G (p.Pro208Arg)
c.518C>G (p.Pro173Arg)
 gnomAD v4
3g.122262141C>TCA354152603CASRc.1106C>T (p.Pro369Leu)
c.623C>T (p.Pro208Leu)
c.518C>T (p.Pro173Leu)
3g.122262142T>ACA2569592CASRc.1107T>A (p.Pro369=)
c.624T>A (p.Pro208=)
c.519T>A (p.Pro173=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262142T>CCA82738862CASRc.1107T>C (p.Pro369=)
c.624T>C (p.Pro208=)
c.519T>C (p.Pro173=)
 dbSNP
3g.122262142T>GCA435425247CASRc.1107T>G (p.Pro369=)
c.624T>G (p.Pro208=)
c.519T>G (p.Pro173=)
3g.122262142T=CA1397873433CASRc.1107T= (p.Pro369=)
c.624T= (p.Pro208=)
c.519T= (p.Pro173=)
3g.122262143G>ACA354152604CASRc.1108G>A (p.Val370Met)
c.625G>A (p.Val209Met)
c.520G>A (p.Val174Met)
 ClinVar dbSNP
3g.122262143G>CCA354152605CASRc.1108G>C (p.Val370Leu)
c.625G>C (p.Val209Leu)
c.520G>C (p.Val174Leu)
 ClinVar dbSNP gnomAD v4
3g.122262143G=CA1397873437CASRc.1108G= (p.Val370=)
c.625G= (p.Val209=)
c.520G= (p.Val174=)
3g.122262143G>TCA354152606CASRc.1108G>T (p.Val370Leu)
c.625G>T (p.Val209Leu)
c.520G>T (p.Val174Leu)
3g.122262144T>ACA354152608CASRc.1109T>A (p.Val370Glu)
c.626T>A (p.Val209Glu)
c.521T>A (p.Val174Glu)
3g.122262144T>CCA354152609CASRc.1109T>C (p.Val370Ala)
c.626T>C (p.Val209Ala)
c.521T>C (p.Val174Ala)
 ClinVar
3g.122262144T>GCA354152607CASRc.1109T>G (p.Val370Gly)
c.626T>G (p.Val209Gly)
c.521T>G (p.Val174Gly)
3g.122262145G>ACA2569593CASRc.1110G>A (p.Val370=)
c.627G>A (p.Val209=)
c.522G>A (p.Val174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262145G>CCA435425254CASRc.1110G>C (p.Val370=)
c.627G>C (p.Val209=)
c.522G>C (p.Val174=)
3g.122262145G=CA1397873445CASRc.1110G= (p.Val370=)
c.627G= (p.Val209=)
c.522G= (p.Val174=)
3g.122262145G>TCA435425255CASRc.1110G>T (p.Val370=)
c.627G>T (p.Val209=)
c.522G>T (p.Val174=)
3g.122262146G>ACA2569594CASRc.1111G>A (p.Asp371Asn)
c.628G>A (p.Asp210Asn)
c.523G>A (p.Asp175Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262146G>CCA354152610CASRc.1111G>C (p.Asp371His)
c.628G>C (p.Asp210His)
c.523G>C (p.Asp175His)
3g.122262146G=CA1397873449CASRc.1111G= (p.Asp371=)
c.628G= (p.Asp210=)
c.523G= (p.Asp175=)
3g.122262146G>TCA354152611CASRc.1111G>T (p.Asp371Tyr)
c.628G>T (p.Asp210Tyr)
c.523G>T (p.Asp175Tyr)
 gnomAD v4
3g.122262147A>CCA354152612CASRc.1112A>C (p.Asp371Ala)
c.629A>C (p.Asp210Ala)
c.524A>C (p.Asp175Ala)
3g.122262147A>GCA354152613CASRc.1112A>G (p.Asp371Gly)
c.629A>G (p.Asp210Gly)
c.524A>G (p.Asp175Gly)
 gnomAD v4
3g.122262147A>TCA354152614CASRc.1112A>T (p.Asp371Val)
c.629A>T (p.Asp210Val)
c.524A>T (p.Asp175Val)
3g.122262148C>ACA354152615CASRc.1113C>A (p.Asp371Glu)
c.630C>A (p.Asp210Glu)
c.525C>A (p.Asp175Glu)
3g.122262148C=CA1397873450CASRc.1113C= (p.Asp371=)
c.630C= (p.Asp210=)
c.525C= (p.Asp175=)
3g.122262148C>GCA354152616CASRc.1113C>G (p.Asp371Glu)
c.630C>G (p.Asp210Glu)
c.525C>G (p.Asp175Glu)
3g.122262148C>TCA435424498CASRc.1113C>T (p.Asp371=)
c.630C>T (p.Asp210=)
c.525C>T (p.Asp175=)
 ClinVar dbSNP
3g.122262149A=CA1397873452CASRc.1114A= (p.Thr372=)
c.631A= (p.Thr211=)
c.526A= (p.Thr176=)
3g.122262149A>CCA354152617CASRc.1114A>C (p.Thr372Pro)
c.631A>C (p.Thr211Pro)
c.526A>C (p.Thr176Pro)
 ClinVar dbSNP gnomAD v4
3g.122262149A>GCA2569595CASRc.1114A>G (p.Thr372Ala)
c.631A>G (p.Thr211Ala)
c.526A>G (p.Thr176Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262149A>TCA354152618CASRc.1114A>T (p.Thr372Ser)
c.631A>T (p.Thr211Ser)
c.526A>T (p.Thr176Ser)
3g.122262149dupCA2740094565CASRc.1114dup (p.Thr372AsnfsTer14)
c.631dup (p.Thr211AsnfsTer14)
c.526dup (p.Thr176AsnfsTer14)
 ClinVar
3g.122262150C>ACA354152621CASRc.1115C>A (p.Thr372Asn)
c.632C>A (p.Thr211Asn)
c.527C>A (p.Thr176Asn)
 ClinVar dbSNP
3g.122262150C=CA1397873455CASRc.1115C= (p.Thr372=)
c.632C= (p.Thr211=)
c.527C= (p.Thr176=)
3g.122262150C>GCA354152619CASRc.1115C>G (p.Thr372Ser)
c.632C>G (p.Thr211Ser)
c.527C>G (p.Thr176Ser)
3g.122262150C>TCA354152620CASRc.1115C>T (p.Thr372Ile)
c.632C>T (p.Thr211Ile)
c.527C>T (p.Thr176Ile)
 ClinVar dbSNP
3g.122262151C>ACA435424503CASRc.1116C>A (p.Thr372=)
c.633C>A (p.Thr211=)
c.528C>A (p.Thr176=)
3g.122262151C=CA1397873459CASRc.1116C= (p.Thr372=)
c.633C= (p.Thr211=)
c.528C= (p.Thr176=)
3g.122262151C>GCA2569597CASRc.1116C>G (p.Thr372=)
c.633C>G (p.Thr211=)
c.528C>G (p.Thr176=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262151C>TCA2569596CASRc.1116C>T (p.Thr372=)
c.633C>T (p.Thr211=)
c.528C>T (p.Thr176=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262152T>ACA354152622CASRc.1117T>A (p.Phe373Ile)
c.634T>A (p.Phe212Ile)
c.529T>A (p.Phe177Ile)
3g.122262152T>CCA354152623CASRc.1117T>C (p.Phe373Leu)
c.634T>C (p.Phe212Leu)
c.529T>C (p.Phe177Leu)
3g.122262152T>GCA354152624CASRc.1117T>G (p.Phe373Val)
c.634T>G (p.Phe212Val)
c.529T>G (p.Phe177Val)
3g.122262153T>ACA354152625CASRc.1118T>A (p.Phe373Tyr)
c.635T>A (p.Phe212Tyr)
c.530T>A (p.Phe177Tyr)
3g.122262153T>CCA354152626CASRc.1118T>C (p.Phe373Ser)
c.635T>C (p.Phe212Ser)
c.530T>C (p.Phe177Ser)
3g.122262153T>GCA354152627CASRc.1118T>G (p.Phe373Cys)
c.635T>G (p.Phe212Cys)
c.530T>G (p.Phe177Cys)
3g.122262154T>ACA354152628CASRc.1119T>A (p.Phe373Leu)
c.636T>A (p.Phe212Leu)
c.531T>A (p.Phe177Leu)
3g.122262154T>CCA2569598CASRc.1119T>C (p.Phe373=)
c.636T>C (p.Phe212=)
c.531T>C (p.Phe177=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262154T>GCA354152629CASRc.1119T>G (p.Phe373Leu)
c.636T>G (p.Phe212Leu)
c.531T>G (p.Phe177Leu)
3g.122262154T=CA1397873464CASRc.1119T= (p.Phe373=)
c.636T= (p.Phe212=)
c.531T= (p.Phe177=)
3g.122262155_122262156delCA2577870023CASRc.1120_1121del (p.Leu374GlufsTer11)
c.637_638del (p.Leu213GlufsTer11)
c.532_533del (p.Leu178GlufsTer11)
3g.122262155C>ACA354152630CASRc.1120C>A (p.Leu374Met)
c.637C>A (p.Leu213Met)
c.532C>A (p.Leu178Met)
3g.122262155C>GCA354152631CASRc.1120C>G (p.Leu374Val)
c.637C>G (p.Leu213Val)
c.532C>G (p.Leu178Val)
3g.122262155C>TCA435424508CASRc.1120C>T (p.Leu374=)
c.637C>T (p.Leu213=)
c.532C>T (p.Leu178=)
3g.122262156T>ACA354152633CASRc.1121T>A (p.Leu374Gln)
c.638T>A (p.Leu213Gln)
c.533T>A (p.Leu178Gln)
3g.122262156T>CCA354152634CASRc.1121T>C (p.Leu374Pro)
c.638T>C (p.Leu213Pro)
c.533T>C (p.Leu178Pro)
3g.122262156T>GCA354152632CASRc.1121T>G (p.Leu374Arg)
c.638T>G (p.Leu213Arg)
c.533T>G (p.Leu178Arg)
3g.122262157G>ACA435424509CASRc.1122G>A (p.Leu374=)
c.639G>A (p.Leu213=)
c.534G>A (p.Leu178=)
 ClinVar gnomAD v4
3g.122262157G>CCA435424510CASRc.1122G>C (p.Leu374=)
c.639G>C (p.Leu213=)
c.534G>C (p.Leu178=)
3g.122262157G>TCA435424511CASRc.1122G>T (p.Leu374=)
c.639G>T (p.Leu213=)
c.534G>T (p.Leu178=)
3g.122262158A>CCA435424514CASRc.1123A>C (p.Arg375=)
c.640A>C (p.Arg214=)
c.535A>C (p.Arg179=)
3g.122262158A>GCA354152636CASRc.1123A>G (p.Arg375Gly)
c.640A>G (p.Arg214Gly)
c.535A>G (p.Arg179Gly)
3g.122262158A>TCA354152635CASRc.1123A>T (p.Arg375Ter)
c.640A>T (p.Arg214Ter)
c.535A>T (p.Arg179Ter)
3g.122262159G>ACA2569599CASRc.1124G>A (p.Arg375Lys)
c.641G>A (p.Arg214Lys)
c.536G>A (p.Arg179Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262159G>CCA354152637CASRc.1124G>C (p.Arg375Thr)
c.641G>C (p.Arg214Thr)
c.536G>C (p.Arg179Thr)
 ClinVar
3g.122262159G=CA1397873471CASRc.1124G= (p.Arg375=)
c.641G= (p.Arg214=)
c.536G= (p.Arg179=)
3g.122262159G>TCA354152638CASRc.1124G>T (p.Arg375Ile)
c.641G>T (p.Arg214Ile)
c.536G>T (p.Arg179Ile)
 ClinVar dbSNP
3g.122262160A>CCA354152639CASRc.1125A>C (p.Arg375Ser)
c.642A>C (p.Arg214Ser)
c.537A>C (p.Arg179Ser)
3g.122262160A>GCA435424516CASRc.1125A>G (p.Arg375=)
c.642A>G (p.Arg214=)
c.537A>G (p.Arg179=)
3g.122262160A>TCA354152640CASRc.1125A>T (p.Arg375Ser)
c.642A>T (p.Arg214Ser)
c.537A>T (p.Arg179Ser)
3g.122262161G>ACA354152641CASRc.1126G>A (p.Gly376Ser)
c.643G>A (p.Gly215Ser)
c.538G>A (p.Gly180Ser)
 ClinVar dbSNP
3g.122262161G>CCA354152642CASRc.1126G>C (p.Gly376Arg)
c.643G>C (p.Gly215Arg)
c.538G>C (p.Gly180Arg)
3g.122262161G>TCA354152643CASRc.1126G>T (p.Gly376Cys)
c.643G>T (p.Gly215Cys)
c.538G>T (p.Gly180Cys)
3g.122262162G>ACA354152644CASRc.1127G>A (p.Gly376Asp)
c.644G>A (p.Gly215Asp)
c.539G>A (p.Gly180Asp)
 ClinVar COSMIC
3g.122262162G>CCA354152645CASRc.1127G>C (p.Gly376Ala)
c.644G>C (p.Gly215Ala)
c.539G>C (p.Gly180Ala)
3g.122262162G=CA1397873479CASRc.1127G= (p.Gly376=)
c.644G= (p.Gly215=)
c.539G= (p.Gly180=)
3g.122262162G>TCA354152646CASRc.1127G>T (p.Gly376Val)
c.644G>T (p.Gly215Val)
c.539G>T (p.Gly180Val)
 ClinVar dbSNP gnomAD v4
3g.122262163T>ACA435424522CASRc.1128T>A (p.Gly376=)
c.645T>A (p.Gly215=)
c.540T>A (p.Gly180=)
3g.122262163T>CCA435424524CASRc.1128T>C (p.Gly376=)
c.645T>C (p.Gly215=)
c.540T>C (p.Gly180=)
3g.122262163T>GCA435424523CASRc.1128T>G (p.Gly376=)
c.645T>G (p.Gly215=)
c.540T>G (p.Gly180=)
3g.122262164C>ACA354152647CASRc.1129C>A (p.His377Asn)
c.646C>A (p.His216Asn)
c.541C>A (p.His181Asn)
3g.122262164C>GCA354152648CASRc.1129C>G (p.His377Asp)
c.646C>G (p.His216Asp)
c.541C>G (p.His181Asp)
3g.122262164C>TCA354152649CASRc.1129C>T (p.His377Tyr)
c.646C>T (p.His216Tyr)
c.541C>T (p.His181Tyr)
3g.122262165A>CCA354152652CASRc.1130A>C (p.His377Pro)
c.647A>C (p.His216Pro)
c.542A>C (p.His181Pro)
3g.122262165A>GCA354152650CASRc.1130A>G (p.His377Arg)
c.647A>G (p.His216Arg)
c.542A>G (p.His181Arg)
3g.122262165A>TCA354152651CASRc.1130A>T (p.His377Leu)
c.647A>T (p.His216Leu)
c.542A>T (p.His181Leu)
3g.122262166C>ACA354152653CASRc.1131C>A (p.His377Gln)
c.648C>A (p.His216Gln)
c.543C>A (p.His181Gln)
3g.122262166C=CA1397873485CASRc.1131C= (p.His377=)
c.648C= (p.His216=)
c.543C= (p.His181=)
3g.122262166C>GCA354152654CASRc.1131C>G (p.His377Gln)
c.648C>G (p.His216Gln)
c.543C>G (p.His181Gln)
3g.122262166C>TCA2569600CASRc.1131C>T (p.His377=)
c.648C>T (p.His216=)
c.543C>T (p.His181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262167G>ACA82738897CASRc.1132G>A (p.Glu378Lys)
c.649G>A (p.Glu217Lys)
c.544G>A (p.Glu182Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122262167G>CCA354152655CASRc.1132G>C (p.Glu378Gln)
c.649G>C (p.Glu217Gln)
c.544G>C (p.Glu182Gln)
3g.122262167G=CA1397873488CASRc.1132G= (p.Glu378=)
c.649G= (p.Glu217=)
c.544G= (p.Glu182=)
3g.122262167G>TCA354152656CASRc.1132G>T (p.Glu378Ter)
c.649G>T (p.Glu217Ter)
c.544G>T (p.Glu182Ter)
3g.122262168A>CCA354152657CASRc.1133A>C (p.Glu378Ala)
c.650A>C (p.Glu217Ala)
c.545A>C (p.Glu182Ala)
3g.122262168A>GCA354152658CASRc.1133A>G (p.Glu378Gly)
c.650A>G (p.Glu217Gly)
c.545A>G (p.Glu182Gly)
3g.122262168A>TCA354152659CASRc.1133A>T (p.Glu378Val)
c.650A>T (p.Glu217Val)
c.545A>T (p.Glu182Val)
3g.122262169A=CA1397873490CASRc.1134A= (p.Glu378=)
c.651A= (p.Glu217=)
c.546A= (p.Glu182=)
3g.122262169A>CCA354152660CASRc.1134A>C (p.Glu378Asp)
c.651A>C (p.Glu217Asp)
c.546A>C (p.Glu182Asp)
3g.122262169A>GCA435424527CASRc.1134A>G (p.Glu378=)
c.651A>G (p.Glu217=)
c.546A>G (p.Glu182=)
3g.122262169A>TCA354152661CASRc.1134A>T (p.Glu378Asp)
c.651A>T (p.Glu217Asp)
c.546A>T (p.Glu182Asp)
 dbSNP gnomAD v3 gnomAD v4
3g.122262170G>ACA354152664CASRc.1135G>A (p.Glu379Lys)
c.652G>A (p.Glu218Lys)
c.547G>A (p.Glu183Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.122262170G>CCA354152663CASRc.1135G>C (p.Glu379Gln)
c.652G>C (p.Glu218Gln)
c.547G>C (p.Glu183Gln)
3g.122262170G=CA1397873492CASRc.1135G= (p.Glu379=)
c.652G= (p.Glu218=)
c.547G= (p.Glu183=)
3g.122262170G>TCA354152662CASRc.1135G>T (p.Glu379Ter)
c.652G>T (p.Glu218Ter)
c.547G>T (p.Glu183Ter)
3g.122262171A>CCA354152665CASRc.1136A>C (p.Glu379Ala)
c.653A>C (p.Glu218Ala)
c.548A>C (p.Glu183Ala)
3g.122262171A>GCA354152666CASRc.1136A>G (p.Glu379Gly)
c.653A>G (p.Glu218Gly)
c.548A>G (p.Glu183Gly)
3g.122262171A>TCA354152667CASRc.1136A>T (p.Glu379Val)
c.653A>T (p.Glu218Val)
c.548A>T (p.Glu183Val)
3g.122262172A>CCA354152668CASRc.1137A>C (p.Glu379Asp)
c.654A>C (p.Glu218Asp)
c.549A>C (p.Glu183Asp)
3g.122262172A>GCA435424529CASRc.1137A>G (p.Glu379=)
c.654A>G (p.Glu218=)
c.549A>G (p.Glu183=)
3g.122262172A>TCA354152669CASRc.1137A>T (p.Glu379Asp)
c.654A>T (p.Glu218Asp)
c.549A>T (p.Glu183Asp)
3g.122262173A=CA1397873497CASRc.1138A= (p.Ser380=)
c.655A= (p.Ser219=)
c.550A= (p.Ser184=)
3g.122262173A>CCA354152670CASRc.1138A>C (p.Ser380Arg)
c.655A>C (p.Ser219Arg)
c.550A>C (p.Ser184Arg)
3g.122262173A>GCA354152671CASRc.1138A>G (p.Ser380Gly)
c.655A>G (p.Ser219Gly)
c.550A>G (p.Ser184Gly)
 ClinVar dbSNP gnomAD v4
3g.122262173A>TCA354152672CASRc.1138A>T (p.Ser380Cys)
c.655A>T (p.Ser219Cys)
c.550A>T (p.Ser184Cys)
 ClinVar dbSNP
3g.122262174G>ACA354152673CASRc.1139G>A (p.Ser380Asn)
c.656G>A (p.Ser219Asn)
c.551G>A (p.Ser184Asn)
3g.122262174G>CCA354152674CASRc.1139G>C (p.Ser380Thr)
c.656G>C (p.Ser219Thr)
c.551G>C (p.Ser184Thr)
3g.122262174G>TCA354152675CASRc.1139G>T (p.Ser380Ile)
c.656G>T (p.Ser219Ile)
c.551G>T (p.Ser184Ile)
3g.122262175T>ACA82738904CASRc.1140T>A (p.Ser380Arg)
c.657T>A (p.Ser219Arg)
c.552T>A (p.Ser184Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262175T>CCA435424534CASRc.1140T>C (p.Ser380=)
c.657T>C (p.Ser219=)
c.552T>C (p.Ser184=)
 ClinVar
3g.122262175T>GCA354152676CASRc.1140T>G (p.Ser380Arg)
c.657T>G (p.Ser219Arg)
c.552T>G (p.Ser184Arg)
3g.122262175T=CA1397873502CASRc.1140T= (p.Ser380=)
c.657T= (p.Ser219=)
c.552T= (p.Ser184=)
3g.122262176G>ACA354152679CASRc.1141G>A (p.Gly381Ser)
c.658G>A (p.Gly220Ser)
c.553G>A (p.Gly185Ser)
3g.122262176G>CCA354152677CASRc.1141G>C (p.Gly381Arg)
c.658G>C (p.Gly220Arg)
c.553G>C (p.Gly185Arg)
3g.122262176G>TCA354152678CASRc.1141G>T (p.Gly381Cys)
c.658G>T (p.Gly220Cys)
c.553G>T (p.Gly185Cys)
3g.122262177G>ACA354152680CASRc.1142G>A (p.Gly381Asp)
c.659G>A (p.Gly220Asp)
c.554G>A (p.Gly185Asp)
3g.122262177G>CCA354152681CASRc.1142G>C (p.Gly381Ala)
c.659G>C (p.Gly220Ala)
c.554G>C (p.Gly185Ala)
 dbSNP
3g.122262177G>TCA354152682CASRc.1142G>T (p.Gly381Val)
c.659G>T (p.Gly220Val)
c.554G>T (p.Gly185Val)
 COSMIC
3g.122262178C>ACA435424538CASRc.1143C>A (p.Gly381=)
c.660C>A (p.Gly220=)
c.555C>A (p.Gly185=)
 ClinVar dbSNP
3g.122262178C=CA1397873512CASRc.1143C= (p.Gly381=)
c.660C= (p.Gly220=)
c.555C= (p.Gly185=)
3g.122262178C>GCA435424539CASRc.1143C>G (p.Gly381=)
c.660C>G (p.Gly220=)
c.555C>G (p.Gly185=)
3g.122262178C>TCA2569601CASRc.1143C>T (p.Gly381=)
c.660C>T (p.Gly220=)
c.555C>T (p.Gly185=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262179G>ACA2569602CASRc.1144G>A (p.Asp382Asn)
c.661G>A (p.Asp221Asn)
c.556G>A (p.Asp186Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262179G>CCA354152683CASRc.1144G>C (p.Asp382His)
c.661G>C (p.Asp221His)
c.556G>C (p.Asp186His)
 gnomAD v4
3g.122262179G=CA1397873515CASRc.1144G= (p.Asp382=)
c.661G= (p.Asp221=)
c.556G= (p.Asp186=)
3g.122262179G>TCA354152684CASRc.1144G>T (p.Asp382Tyr)
c.661G>T (p.Asp221Tyr)
c.556G>T (p.Asp186Tyr)
 ClinVar gnomAD v4
3g.122262180A=CA1397873519CASRc.1145A= (p.Asp382=)
c.662A= (p.Asp221=)
c.557A= (p.Asp186=)
3g.122262180A>CCA354152685CASRc.1145A>C (p.Asp382Ala)
c.662A>C (p.Asp221Ala)
c.557A>C (p.Asp186Ala)
3g.122262180A>GCA354152686CASRc.1145A>G (p.Asp382Gly)
c.662A>G (p.Asp221Gly)
c.557A>G (p.Asp186Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262180A>TCA354152687CASRc.1145A>T (p.Asp382Val)
c.662A>T (p.Asp221Val)
c.557A>T (p.Asp186Val)
3g.122262181C>ACA354152688CASRc.1146C>A (p.Asp382Glu)
c.663C>A (p.Asp221Glu)
c.558C>A (p.Asp186Glu)
3g.122262181C=CA1397873522CASRc.1146C= (p.Asp382=)
c.663C= (p.Asp221=)
c.558C= (p.Asp186=)
3g.122262181C>GCA354152689CASRc.1146C>G (p.Asp382Glu)
c.663C>G (p.Asp221Glu)
c.558C>G (p.Asp186Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262181C>TCA435424545CASRc.1146C>T (p.Asp382=)
c.663C>T (p.Asp221=)
c.558C>T (p.Asp186=)
3g.122262182A=CA1397873525CASRc.1147A= (p.Arg383=)
c.664A= (p.Arg222=)
c.559A= (p.Arg187=)
3g.122262182A>CCA435424546CASRc.1147A>C (p.Arg383=)
c.664A>C (p.Arg222=)
c.559A>C (p.Arg187=)
3g.122262182A>GCA354152690CASRc.1147A>G (p.Arg383Gly)
c.664A>G (p.Arg222Gly)
c.559A>G (p.Arg187Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.122262182A>TCA354152691CASRc.1147A>T (p.Arg383Trp)
c.664A>T (p.Arg222Trp)
c.559A>T (p.Arg187Trp)
3g.122262183G>ACA354152692CASRc.1148G>A (p.Arg383Lys)
c.665G>A (p.Arg222Lys)
c.560G>A (p.Arg187Lys)
3g.122262183G>CCA354152694CASRc.1148G>C (p.Arg383Thr)
c.665G>C (p.Arg222Thr)
c.560G>C (p.Arg187Thr)
3g.122262183G>TCA354152693CASRc.1148G>T (p.Arg383Met)
c.665G>T (p.Arg222Met)
c.560G>T (p.Arg187Met)
3g.122262184G>ACA435424548CASRc.1149G>A (p.Arg383=)
c.666G>A (p.Arg222=)
c.561G>A (p.Arg187=)
 ClinVar
3g.122262184G>CCA82738910CASRc.1149G>C (p.Arg383Ser)
c.666G>C (p.Arg222Ser)
c.561G>C (p.Arg187Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262184G=CA1397873529CASRc.1149G= (p.Arg383=)
c.666G= (p.Arg222=)
c.561G= (p.Arg187=)
3g.122262184G>TCA354152695CASRc.1149G>T (p.Arg383Ser)
c.666G>T (p.Arg222Ser)
c.561G>T (p.Arg187Ser)
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=)
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)

Number of alleles fetched