Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122262291A>CCA354152930CASRc.1256A>C (p.Asn419Thr)
c.773A>C (p.Asn258Thr)
c.668A>C (p.Asn223Thr)
3g.122262291A>GCA354152931CASRc.1256A>G (p.Asn419Ser)
c.773A>G (p.Asn258Ser)
c.668A>G (p.Asn223Ser)
3g.122262291A>TCA354152932CASRc.1256A>T (p.Asn419Ile)
c.773A>T (p.Asn258Ile)
c.668A>T (p.Asn223Ile)
3g.122262292T>ACA354152934CASRc.1257T>A (p.Asn419Lys)
c.774T>A (p.Asn258Lys)
c.669T>A (p.Asn223Lys)
3g.122262292T>CCA435424784CASRc.1257T>C (p.Asn419=)
c.774T>C (p.Asn258=)
c.669T>C (p.Asn223=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262292T>GCA354152933CASRc.1257T>G (p.Asn419Lys)
c.774T>G (p.Asn258Lys)
c.669T>G (p.Asn223Lys)
3g.122262292T=CA1397873804CASRc.1257T= (p.Asn419=)
c.774T= (p.Asn258=)
c.669T= (p.Asn223=)
3g.122262293G>ACA354152935CASRc.1258G>A (p.Val420Met)
c.775G>A (p.Val259Met)
c.670G>A (p.Val224Met)
 ClinVar dbSNP
3g.122262293G>CCA354152936CASRc.1258G>C (p.Val420Leu)
c.775G>C (p.Val259Leu)
c.670G>C (p.Val224Leu)
3g.122262293G>TCA354152937CASRc.1258G>T (p.Val420Leu)
c.775G>T (p.Val259Leu)
c.670G>T (p.Val224Leu)
3g.122262294T>ACA354152938CASRc.1259T>A (p.Val420Glu)
c.776T>A (p.Val259Glu)
c.671T>A (p.Val224Glu)
 ClinVar
3g.122262294T>CCA354152939CASRc.1259T>C (p.Val420Ala)
c.776T>C (p.Val259Ala)
c.671T>C (p.Val224Ala)
3g.122262294T>GCA354152940CASRc.1259T>G (p.Val420Gly)
c.776T>G (p.Val259Gly)
c.671T>G (p.Val224Gly)
3g.122262295G>ACA435424793CASRc.1260G>A (p.Val420=)
c.777G>A (p.Val259=)
c.672G>A (p.Val224=)
 ClinVar
3g.122262295G>CCA435424789CASRc.1260G>C (p.Val420=)
c.777G>C (p.Val259=)
c.672G>C (p.Val224=)
 dbSNP
3g.122262295G=CA1397873807CASRc.1260G= (p.Val420=)
c.777G= (p.Val259=)
c.672G= (p.Val224=)
3g.122262295G>TCA435424790CASRc.1260G>T (p.Val420=)
c.777G>T (p.Val259=)
c.672G>T (p.Val224=)
 dbSNP
3g.122262296T>ACA354152941CASRc.1261T>A (p.Tyr421Asn)
c.778T>A (p.Tyr260Asn)
c.673T>A (p.Tyr225Asn)
3g.122262296T>CCA354152943CASRc.1261T>C (p.Tyr421His)
c.778T>C (p.Tyr260His)
c.673T>C (p.Tyr225His)
3g.122262296T>GCA354152942CASRc.1261T>G (p.Tyr421Asp)
c.778T>G (p.Tyr260Asp)
c.673T>G (p.Tyr225Asp)
 ClinVar
3g.122262297A>CCA354152944CASRc.1262A>C (p.Tyr421Ser)
c.779A>C (p.Tyr260Ser)
c.674A>C (p.Tyr225Ser)
3g.122262297A>GCA354152945CASRc.1262A>G (p.Tyr421Cys)
c.779A>G (p.Tyr260Cys)
c.674A>G (p.Tyr225Cys)
 ClinVar dbSNP
3g.122262297A>TCA354152946CASRc.1262A>T (p.Tyr421Phe)
c.779A>T (p.Tyr260Phe)
c.674A>T (p.Tyr225Phe)
3g.122262298C>ACA354152947CASRc.1263C>A (p.Tyr421Ter)
c.780C>A (p.Tyr260Ter)
c.675C>A (p.Tyr225Ter)
3g.122262298C>GCA354152948CASRc.1263C>G (p.Tyr421Ter)
c.780C>G (p.Tyr260Ter)
c.675C>G (p.Tyr225Ter)
3g.122262298C>TCA435424800CASRc.1263C>T (p.Tyr421=)
c.780C>T (p.Tyr260=)
c.675C>T (p.Tyr225=)
3g.122262299T>ACA354152949CASRc.1264T>A (p.Leu422Ile)
c.781T>A (p.Leu261Ile)
c.676T>A (p.Leu226Ile)
3g.122262299T>CCA435424801CASRc.1264T>C (p.Leu422=)
c.781T>C (p.Leu261=)
c.676T>C (p.Leu226=)
 dbSNP
3g.122262299T>GCA354152950CASRc.1264T>G (p.Leu422Val)
c.781T>G (p.Leu261Val)
c.676T>G (p.Leu226Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262299T=CA1397873813CASRc.1264T= (p.Leu422=)
c.781T= (p.Leu261=)
c.676T= (p.Leu226=)
3g.122262300T>ACA354152951CASRc.1265T>A (p.Leu422Ter)
c.782T>A (p.Leu261Ter)
c.677T>A (p.Leu226Ter)
3g.122262300T>CCA354152952CASRc.1265T>C (p.Leu422Ser)
c.782T>C (p.Leu261Ser)
c.677T>C (p.Leu226Ser)
3g.122262300T>GCA354152953CASRc.1265T>G (p.Leu422Ter)
c.782T>G (p.Leu261Ter)
c.677T>G (p.Leu226Ter)
3g.122262300_122262303delinsTAGCCA1397873816CASRc.1265_1268delinsTAGC (p.Leu422=)
c.782_785delinsTAGC (p.Leu261=)
c.677_680delinsTAGC (p.Leu226=)
3g.122262301A>CCA354152955CASRc.1266A>C (p.Leu422Phe)
c.783A>C (p.Leu261Phe)
c.678A>C (p.Leu226Phe)
3g.122262301A>GCA435424804CASRc.1266A>G (p.Leu422=)
c.783A>G (p.Leu261=)
c.678A>G (p.Leu226=)
 ClinVar gnomAD v4
3g.122262301A>TCA354152954CASRc.1266A>T (p.Leu422Phe)
c.783A>T (p.Leu261Phe)
c.678A>T (p.Leu226Phe)
3g.122262303_122262305delCA2569614CASRc.1268_1270del (p.Ala423del)
c.785_787del (p.Ala262del)
c.680_682del (p.Ala227del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262302G>ACA354152956CASRc.1267G>A (p.Ala423Thr)
c.784G>A (p.Ala262Thr)
c.679G>A (p.Ala227Thr)
 ClinVar dbSNP gnomAD v4
3g.122262302G>CCA354152957CASRc.1267G>C (p.Ala423Pro)
c.784G>C (p.Ala262Pro)
c.679G>C (p.Ala227Pro)
3g.122262302G=CA1397873822CASRc.1267G= (p.Ala423=)
c.784G= (p.Ala262=)
c.679G= (p.Ala227=)
3g.122262302G>TCA354152958CASRc.1267G>T (p.Ala423Ser)
c.784G>T (p.Ala262Ser)
c.679G>T (p.Ala227Ser)
 ClinVar
3g.122262302_122262303delinsAACA2586972809CASRc.1267_1268delinsAA (p.Ala423Lys)
c.784_785delinsAA (p.Ala262Lys)
c.679_680delinsAA (p.Ala227Lys)
3g.122262303C>ACA354152959CASRc.1268C>A (p.Ala423Glu)
c.785C>A (p.Ala262Glu)
c.680C>A (p.Ala227Glu)
 ClinVar dbSNP
3g.122262303C>GCA354152960CASRc.1268C>G (p.Ala423Gly)
c.785C>G (p.Ala262Gly)
c.680C>G (p.Ala227Gly)
3g.122262303C>TCA354152961CASRc.1268C>T (p.Ala423Val)
c.785C>T (p.Ala262Val)
c.680C>T (p.Ala227Val)
 gnomAD v4
3g.122262304A>CCA435424812CASRc.1269A>C (p.Ala423=)
c.786A>C (p.Ala262=)
c.681A>C (p.Ala227=)
3g.122262304A>GCA435424813CASRc.1269A>G (p.Ala423=)
c.786A>G (p.Ala262=)
c.681A>G (p.Ala227=)
 ClinVar
3g.122262304A>TCA435424814CASRc.1269A>T (p.Ala423=)
c.786A>T (p.Ala262=)
c.681A>T (p.Ala227=)
3g.122262305G>ACA354152962CASRc.1270G>A (p.Val424Ile)
c.787G>A (p.Val263Ile)
c.682G>A (p.Val228Ile)
 COSMIC
3g.122262305G>CCA354152963CASRc.1270G>C (p.Val424Leu)
c.787G>C (p.Val263Leu)
c.682G>C (p.Val228Leu)
3g.122262305G>TCA354152964CASRc.1270G>T (p.Val424Phe)
c.787G>T (p.Val263Phe)
c.682G>T (p.Val228Phe)
3g.122262306T>ACA354152965CASRc.1271T>A (p.Val424Asp)
c.788T>A (p.Val263Asp)
c.683T>A (p.Val228Asp)
3g.122262306T>CCA354152966CASRc.1271T>C (p.Val424Ala)
c.788T>C (p.Val263Ala)
c.683T>C (p.Val228Ala)
3g.122262306T>GCA354152967CASRc.1271T>G (p.Val424Gly)
c.788T>G (p.Val263Gly)
c.683T>G (p.Val228Gly)
3g.122262307C>ACA435424818CASRc.1272C>A (p.Val424=)
c.789C>A (p.Val263=)
c.684C>A (p.Val228=)
3g.122262307C=CA1397873824CASRc.1272C= (p.Val424=)
c.789C= (p.Val263=)
c.684C= (p.Val228=)
3g.122262307C>GCA435424819CASRc.1272C>G (p.Val424=)
c.789C>G (p.Val263=)
c.684C>G (p.Val228=)
3g.122262307C>TCA435424820CASRc.1272C>T (p.Val424=)
c.789C>T (p.Val263=)
c.684C>T (p.Val228=)
 dbSNP
3g.122262308T>ACA354152970CASRc.1273T>A (p.Tyr425Asn)
c.790T>A (p.Tyr264Asn)
c.685T>A (p.Tyr229Asn)
3g.122262308T>CCA354152969CASRc.1273T>C (p.Tyr425His)
c.790T>C (p.Tyr264His)
c.685T>C (p.Tyr229His)
3g.122262308T>GCA354152968CASRc.1273T>G (p.Tyr425Asp)
c.790T>G (p.Tyr264Asp)
c.685T>G (p.Tyr229Asp)
3g.122262309A>CCA354152971CASRc.1274A>C (p.Tyr425Ser)
c.791A>C (p.Tyr264Ser)
c.686A>C (p.Tyr229Ser)
3g.122262309A>GCA354152972CASRc.1274A>G (p.Tyr425Cys)
c.791A>G (p.Tyr264Cys)
c.686A>G (p.Tyr229Cys)
3g.122262309A>TCA354152973CASRc.1274A>T (p.Tyr425Phe)
c.791A>T (p.Tyr264Phe)
c.686A>T (p.Tyr229Phe)
3g.122262310C>ACA354152974CASRc.1275C>A (p.Tyr425Ter)
c.792C>A (p.Tyr264Ter)
c.687C>A (p.Tyr229Ter)
3g.122262310C>GCA354152975CASRc.1275C>G (p.Tyr425Ter)
c.792C>G (p.Tyr264Ter)
c.687C>G (p.Tyr229Ter)
3g.122262310C>TCA435424829CASRc.1275C>T (p.Tyr425=)
c.792C>T (p.Tyr264=)
c.687C>T (p.Tyr229=)
3g.122262311T>ACA354152976CASRc.1276T>A (p.Ser426Thr)
c.793T>A (p.Ser265Thr)
c.688T>A (p.Ser230Thr)
3g.122262311T>CCA354152977CASRc.1276T>C (p.Ser426Pro)
c.793T>C (p.Ser265Pro)
c.688T>C (p.Ser230Pro)
3g.122262311T>GCA354152978CASRc.1276T>G (p.Ser426Ala)
c.793T>G (p.Ser265Ala)
c.688T>G (p.Ser230Ala)
3g.122262312C>ACA354152979CASRc.1277C>A (p.Ser426Tyr)
c.794C>A (p.Ser265Tyr)
c.689C>A (p.Ser230Tyr)
3g.122262312C>GCA354152980CASRc.1277C>G (p.Ser426Cys)
c.794C>G (p.Ser265Cys)
c.689C>G (p.Ser230Cys)
3g.122262312C>TCA354152981CASRc.1277C>T (p.Ser426Phe)
c.794C>T (p.Ser265Phe)
c.689C>T (p.Ser230Phe)
3g.122262313delCA2586972810CASRc.1278del (p.Ile427LeufsTer?)
c.795del (p.Ile266LeufsTer?)
c.690del (p.Ile231LeufsTer?)
3g.122262313C>ACA435424838CASRc.1278C>A (p.Ser426=)
c.795C>A (p.Ser265=)
c.690C>A (p.Ser230=)
3g.122262313C=CA1397873826CASRc.1278C= (p.Ser426=)
c.795C= (p.Ser265=)
c.690C= (p.Ser230=)
3g.122262313C>GCA435424839CASRc.1278C>G (p.Ser426=)
c.795C>G (p.Ser265=)
c.690C>G (p.Ser230=)
 ClinVar
3g.122262313C>TCA2569615CASRc.1278C>T (p.Ser426=)
c.795C>T (p.Ser265=)
c.690C>T (p.Ser230=)
 ClinVar dbSNP ExAC gnomAD v2
3g.122262314A=CA1397873830CASRc.1279A= (p.Ile427=)
c.796A= (p.Ile266=)
c.691A= (p.Ile231=)
3g.122262314A>CCA354152984CASRc.1279A>C (p.Ile427Leu)
c.796A>C (p.Ile266Leu)
c.691A>C (p.Ile231Leu)
 ClinVar
3g.122262314A>GCA354152983CASRc.1279A>G (p.Ile427Val)
c.796A>G (p.Ile266Val)
c.691A>G (p.Ile231Val)
 ClinVar dbSNP
3g.122262314A>TCA354152982CASRc.1279A>T (p.Ile427Phe)
c.796A>T (p.Ile266Phe)
c.691A>T (p.Ile231Phe)
3g.122262315T>ACA354152985CASRc.1280T>A (p.Ile427Asn)
c.797T>A (p.Ile266Asn)
c.692T>A (p.Ile231Asn)
3g.122262315T>CCA354152987CASRc.1280T>C (p.Ile427Thr)
c.797T>C (p.Ile266Thr)
c.692T>C (p.Ile231Thr)
 ClinVar dbSNP gnomAD v4
3g.122262315T>GCA354152986CASRc.1280T>G (p.Ile427Ser)
c.797T>G (p.Ile266Ser)
c.692T>G (p.Ile231Ser)
3g.122262315T=CA1397873835CASRc.1280T= (p.Ile427=)
c.797T= (p.Ile266=)
c.692T= (p.Ile231=)
3g.122262316T>ACA435424844CASRc.1281T>A (p.Ile427=)
c.798T>A (p.Ile266=)
c.693T>A (p.Ile231=)
3g.122262316T>CCA2569616CASRc.1281T>C (p.Ile427=)
c.798T>C (p.Ile266=)
c.693T>C (p.Ile231=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262316T>GCA354152988CASRc.1281T>G (p.Ile427Met)
c.798T>G (p.Ile266Met)
c.693T>G (p.Ile231Met)
 ClinVar gnomAD v4
3g.122262316T=CA1397873848CASRc.1281T= (p.Ile427=)
c.798T= (p.Ile266=)
c.693T= (p.Ile231=)
3g.122262317G>ACA354152989CASRc.1282G>A (p.Ala428Thr)
c.799G>A (p.Ala267Thr)
c.694G>A (p.Ala232Thr)
3g.122262317G>CCA354152991CASRc.1282G>C (p.Ala428Pro)
c.799G>C (p.Ala267Pro)
c.694G>C (p.Ala232Pro)
3g.122262317G>TCA354152990CASRc.1282G>T (p.Ala428Ser)
c.799G>T (p.Ala267Ser)
c.694G>T (p.Ala232Ser)
3g.122262318C>ACA354152992CASRc.1283C>A (p.Ala428Asp)
c.800C>A (p.Ala267Asp)
c.695C>A (p.Ala232Asp)
 ClinVar dbSNP
3g.122262318C=CA1397873853CASRc.1283C= (p.Ala428=)
c.800C= (p.Ala267=)
c.695C= (p.Ala232=)
3g.122262318C>GCA354152993CASRc.1283C>G (p.Ala428Gly)
c.800C>G (p.Ala267Gly)
c.695C>G (p.Ala232Gly)
3g.122262318C>TCA16611300CASRc.1283C>T (p.Ala428Val)
c.800C>T (p.Ala267Val)
c.695C>T (p.Ala232Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262319C>ACA435424855CASRc.1284C>A (p.Ala428=)
c.801C>A (p.Ala267=)
c.696C>A (p.Ala232=)
3g.122262319C>GCA435424854CASRc.1284C>G (p.Ala428=)
c.801C>G (p.Ala267=)
c.696C>G (p.Ala232=)
3g.122262319C>TCA435424853CASRc.1284C>T (p.Ala428=)
c.801C>T (p.Ala267=)
c.696C>T (p.Ala232=)
 ClinVar dbSNP gnomAD v4
3g.122262320C>ACA354152994CASRc.1285C>A (p.His429Asn)
c.802C>A (p.His268Asn)
c.697C>A (p.His233Asn)
3g.122262320C=CA1397873860CASRc.1285C= (p.His429=)
c.802C= (p.His268=)
c.697C= (p.His233=)
3g.122262320C>GCA354152995CASRc.1285C>G (p.His429Asp)
c.802C>G (p.His268Asp)
c.697C>G (p.His233Asp)
3g.122262320C>TCA2569617CASRc.1285C>T (p.His429Tyr)
c.802C>T (p.His268Tyr)
c.697C>T (p.His233Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262321A>CCA354152996CASRc.1286A>C (p.His429Pro)
c.803A>C (p.His268Pro)
c.698A>C (p.His233Pro)
3g.122262321A>GCA354152997CASRc.1286A>G (p.His429Arg)
c.803A>G (p.His268Arg)
c.698A>G (p.His233Arg)
 ClinVar
3g.122262321A>TCA354152998CASRc.1286A>T (p.His429Leu)
c.803A>T (p.His268Leu)
c.698A>T (p.His233Leu)
3g.122262322C>ACA2569619CASRc.1287C>A (p.His429Gln)
c.804C>A (p.His268Gln)
c.699C>A (p.His233Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262322C=CA1397873871CASRc.1287C= (p.His429=)
c.804C= (p.His268=)
c.699C= (p.His233=)
3g.122262322C>GCA354152999CASRc.1287C>G (p.His429Gln)
c.804C>G (p.His268Gln)
c.699C>G (p.His233Gln)
3g.122262322C>TCA2569618CASRc.1287C>T (p.His429=)
c.804C>T (p.His268=)
c.699C>T (p.His233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262322_122262323insACA2740094567CASRc.1287_1288insA (p.Ala430SerfsTer27)
c.804_805insA (p.Ala269SerfsTer27)
c.699_700insA (p.Ala234SerfsTer27)
 ClinVar
3g.122262323G>ACA82739075CASRc.1288G>A (p.Ala430Thr)
c.805G>A (p.Ala269Thr)
c.700G>A (p.Ala234Thr)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122262323G>CCA354153000CASRc.1288G>C (p.Ala430Pro)
c.805G>C (p.Ala269Pro)
c.700G>C (p.Ala234Pro)
3g.122262323G=CA1397873881CASRc.1288G= (p.Ala430=)
c.805G= (p.Ala269=)
c.700G= (p.Ala234=)
3g.122262323G>TCA82739080CASRc.1288G>T (p.Ala430Ser)
c.805G>T (p.Ala269Ser)
c.700G>T (p.Ala234Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262324C>ACA354153001CASRc.1289C>A (p.Ala430Asp)
c.806C>A (p.Ala269Asp)
c.701C>A (p.Ala234Asp)
3g.122262324C>GCA354153002CASRc.1289C>G (p.Ala430Gly)
c.806C>G (p.Ala269Gly)
c.701C>G (p.Ala234Gly)
3g.122262324C>TCA354153003CASRc.1289C>T (p.Ala430Val)
c.806C>T (p.Ala269Val)
c.701C>T (p.Ala234Val)
3g.122262325C>ACA435424868CASRc.1290C>A (p.Ala430=)
c.807C>A (p.Ala269=)
c.702C>A (p.Ala234=)
3g.122262325C>GCA435424871CASRc.1290C>G (p.Ala430=)
c.807C>G (p.Ala269=)
c.702C>G (p.Ala234=)
3g.122262325C>TCA435424870CASRc.1290C>T (p.Ala430=)
c.807C>T (p.Ala269=)
c.702C>T (p.Ala234=)
3g.122262326T>ACA354153004CASRc.1291T>A (p.Leu431Met)
c.808T>A (p.Leu270Met)
c.703T>A (p.Leu235Met)
3g.122262326T>CCA435424872CASRc.1291T>C (p.Leu431=)
c.808T>C (p.Leu270=)
c.703T>C (p.Leu235=)
 gnomAD v4
3g.122262326T>GCA354153005CASRc.1291T>G (p.Leu431Val)
c.808T>G (p.Leu270Val)
c.703T>G (p.Leu235Val)
3g.122262327T>ACA354153006CASRc.1292T>A (p.Leu431Ter)
c.809T>A (p.Leu270Ter)
c.704T>A (p.Leu235Ter)
3g.122262327T>CCA354153007CASRc.1292T>C (p.Leu431Ser)
c.809T>C (p.Leu270Ser)
c.704T>C (p.Leu235Ser)
3g.122262327T>GCA354153008CASRc.1292T>G (p.Leu431Trp)
c.809T>G (p.Leu270Trp)
c.704T>G (p.Leu235Trp)
3g.122262328G>ACA435424878CASRc.1293G>A (p.Leu431=)
c.810G>A (p.Leu270=)
c.705G>A (p.Leu235=)
 ClinVar dbSNP gnomAD v4
3g.122262328G>CCA354153009CASRc.1293G>C (p.Leu431Phe)
c.810G>C (p.Leu270Phe)
c.705G>C (p.Leu235Phe)
3g.122262328G>TCA354153010CASRc.1293G>T (p.Leu431Phe)
c.810G>T (p.Leu270Phe)
c.705G>T (p.Leu235Phe)
3g.122262329C>ACA354153011CASRc.1294C>A (p.Gln432Lys)
c.811C>A (p.Gln271Lys)
c.706C>A (p.Gln236Lys)
3g.122262329C>GCA354153012CASRc.1294C>G (p.Gln432Glu)
c.811C>G (p.Gln271Glu)
c.706C>G (p.Gln236Glu)
3g.122262329C>TCA354153013CASRc.1294C>T (p.Gln432Ter)
c.811C>T (p.Gln271Ter)
c.706C>T (p.Gln236Ter)
 COSMIC
3g.122262330A>CCA354153014CASRc.1295A>C (p.Gln432Pro)
c.812A>C (p.Gln271Pro)
c.707A>C (p.Gln236Pro)
 ClinVar
3g.122262330A>GCA354153015CASRc.1295A>G (p.Gln432Arg)
c.812A>G (p.Gln271Arg)
c.707A>G (p.Gln236Arg)
3g.122262330A>TCA354153016CASRc.1295A>T (p.Gln432Leu)
c.812A>T (p.Gln271Leu)
c.707A>T (p.Gln236Leu)
3g.122262331A>CCA354153017CASRc.1296A>C (p.Gln432His)
c.813A>C (p.Gln271His)
c.708A>C (p.Gln236His)
3g.122262331A>GCA435424895CASRc.1296A>G (p.Gln432=)
c.813A>G (p.Gln271=)
c.708A>G (p.Gln236=)
 ClinVar
3g.122262331A>TCA354153018CASRc.1296A>T (p.Gln432His)
c.813A>T (p.Gln271His)
c.708A>T (p.Gln236His)
3g.122262332G>ACA354153019CASRc.1297G>A (p.Asp433Asn)
c.814G>A (p.Asp272Asn)
c.709G>A (p.Asp237Asn)
3g.122262332G>CCA2569620CASRc.1297G>C (p.Asp433His)
c.814G>C (p.Asp272His)
c.709G>C (p.Asp237His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262332G=CA1397873887CASRc.1297G= (p.Asp433=)
c.814G= (p.Asp272=)
c.709G= (p.Asp237=)
3g.122262332G>TCA2569621CASRc.1297G>T (p.Asp433Tyr)
c.814G>T (p.Asp272Tyr)
c.709G>T (p.Asp237Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262333A>CCA354153020CASRc.1298A>C (p.Asp433Ala)
c.815A>C (p.Asp272Ala)
c.710A>C (p.Asp237Ala)
3g.122262333A>GCA354153021CASRc.1298A>G (p.Asp433Gly)
c.815A>G (p.Asp272Gly)
c.710A>G (p.Asp237Gly)
3g.122262333A>TCA354153022CASRc.1298A>T (p.Asp433Val)
c.815A>T (p.Asp272Val)
c.710A>T (p.Asp237Val)
 gnomAD v4
3g.122262340_122262341dupCA2580574405CASRc.1305_1306dup (p.Thr436IlefsTer?)
c.1305_1306dup (p.Thr436IlefsTer27)
c.822_823dup (p.Thr275IlefsTer27)
c.717_718dup (p.Thr240IlefsTer27)
3g.122262336_122262341delCA2695199275CASRc.1301_1306del (p.Ile434_Tyr435del)
c.818_823del (p.Ile273_Tyr274del)
c.713_718del (p.Ile238_Tyr239del)
 ClinVar
3g.122262334T>ACA354153023CASRc.1299T>A (p.Asp433Glu)
c.816T>A (p.Asp272Glu)
c.711T>A (p.Asp237Glu)
3g.122262334T>CCA435424912CASRc.1299T>C (p.Asp433=)
c.816T>C (p.Asp272=)
c.711T>C (p.Asp237=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262334T>GCA354153024CASRc.1299T>G (p.Asp433Glu)
c.816T>G (p.Asp272Glu)
c.711T>G (p.Asp237Glu)
3g.122262334T=CA1397873894CASRc.1299T= (p.Asp433=)
c.816T= (p.Asp272=)
c.711T= (p.Asp237=)
3g.122262335A>CCA354153025CASRc.1300A>C (p.Ile434Leu)
c.817A>C (p.Ile273Leu)
c.712A>C (p.Ile238Leu)
 gnomAD v4
3g.122262335A>GCA354153026CASRc.1300A>G (p.Ile434Val)
c.817A>G (p.Ile273Val)
c.712A>G (p.Ile238Val)
3g.122262335A>TCA354153027CASRc.1300A>T (p.Ile434Leu)
c.817A>T (p.Ile273Leu)
c.712A>T (p.Ile238Leu)
3g.122262336T>ACA354153030CASRc.1301T>A (p.Ile434Lys)
c.818T>A (p.Ile273Lys)
c.713T>A (p.Ile238Lys)
3g.122262336T>CCA354153029CASRc.1301T>C (p.Ile434Thr)
c.818T>C (p.Ile273Thr)
c.713T>C (p.Ile238Thr)
 ClinVar dbSNP
3g.122262336T>GCA354153028CASRc.1301T>G (p.Ile434Arg)
c.818T>G (p.Ile273Arg)
c.713T>G (p.Ile238Arg)
3g.122262336T=CA1397873896CASRc.1301T= (p.Ile434=)
c.818T= (p.Ile273=)
c.713T= (p.Ile238=)
3g.122262337A=CA1397873903CASRc.1302A= (p.Ile434=)
c.819A= (p.Ile273=)
c.714A= (p.Ile238=)
3g.122262337A>CCA435424919CASRc.1302A>C (p.Ile434=)
c.819A>C (p.Ile273=)
c.714A>C (p.Ile238=)
 gnomAD v4
3g.122262337A>GCA354153031CASRc.1302A>G (p.Ile434Met)
c.819A>G (p.Ile273Met)
c.714A>G (p.Ile238Met)
 ClinVar dbSNP gnomAD v4
3g.122262337A>TCA435424921CASRc.1302A>T (p.Ile434=)
c.819A>T (p.Ile273=)
c.714A>T (p.Ile238=)
3g.122262338T>ACA354153032CASRc.1303T>A (p.Tyr435Asn)
c.820T>A (p.Tyr274Asn)
c.715T>A (p.Tyr239Asn)
3g.122262338T>CCA354153033CASRc.1303T>C (p.Tyr435His)
c.820T>C (p.Tyr274His)
c.715T>C (p.Tyr239His)
 dbSNP gnomAD v2 gnomAD v4
3g.122262338T>GCA354153034CASRc.1303T>G (p.Tyr435Asp)
c.820T>G (p.Tyr274Asp)
c.715T>G (p.Tyr239Asp)
3g.122262338T=CA1397873906CASRc.1303T= (p.Tyr435=)
c.820T= (p.Tyr274=)
c.715T= (p.Tyr239=)
3g.122262339A=CA1397873909CASRc.1304A= (p.Tyr435=)
c.821A= (p.Tyr274=)
c.716A= (p.Tyr239=)
3g.122262339A>CCA354153035CASRc.1304A>C (p.Tyr435Ser)
c.821A>C (p.Tyr274Ser)
c.716A>C (p.Tyr239Ser)
 gnomAD v4
3g.122262339A>GCA354153036CASRc.1304A>G (p.Tyr435Cys)
c.821A>G (p.Tyr274Cys)
c.716A>G (p.Tyr239Cys)
 ClinVar
3g.122262339A>TCA354153037CASRc.1304A>T (p.Tyr435Phe)
c.821A>T (p.Tyr274Phe)
c.716A>T (p.Tyr239Phe)
 ClinVar dbSNP COSMIC
3g.122262340T>ACA354153038CASRc.1305T>A (p.Tyr435Ter)
c.822T>A (p.Tyr274Ter)
c.717T>A (p.Tyr239Ter)
3g.122262340T>CCA435424934CASRc.1305T>C (p.Tyr435=)
c.822T>C (p.Tyr274=)
c.717T>C (p.Tyr239=)
 ClinVar dbSNP
3g.122262340T>GCA354153039CASRc.1305T>G (p.Tyr435Ter)
c.822T>G (p.Tyr274Ter)
c.717T>G (p.Tyr239Ter)
3g.122262340T=CA1397873916CASRc.1305T= (p.Tyr435=)
c.822T= (p.Tyr274=)
c.717T= (p.Tyr239=)
3g.122262341A>CCA354153040CASRc.1306A>C (p.Thr436Pro)
c.823A>C (p.Thr275Pro)
c.718A>C (p.Thr240Pro)
3g.122262341A>GCA354153041CASRc.1306A>G (p.Thr436Ala)
c.823A>G (p.Thr275Ala)
c.718A>G (p.Thr240Ala)
3g.122262341A>TCA354153042CASRc.1306A>T (p.Thr436Ser)
c.823A>T (p.Thr275Ser)
c.718A>T (p.Thr240Ser)
3g.122262341_122262342delCA2667225082CASRc.1306_1307del (p.Thr436LeufsTer20)
c.823_824del (p.Thr275LeufsTer20)
c.718_719del (p.Thr240LeufsTer20)
 gnomAD v4
3g.122262342C>ACA354153044CASRc.1307C>A (p.Thr436Asn)
c.824C>A (p.Thr275Asn)
c.719C>A (p.Thr240Asn)
 dbSNP
3g.122262342C=CA1397873922CASRc.1307C= (p.Thr436=)
c.824C= (p.Thr275=)
c.719C= (p.Thr240=)
3g.122262342C>GCA354153045CASRc.1307C>G (p.Thr436Ser)
c.824C>G (p.Thr275Ser)
c.719C>G (p.Thr240Ser)
 ClinVar dbSNP
3g.122262342C>TCA354153043CASRc.1307C>T (p.Thr436Ile)
c.824C>T (p.Thr275Ile)
c.719C>T (p.Thr240Ile)
3g.122262343C>ACA435424941CASRc.1308C>A (p.Thr436=)
c.825C>A (p.Thr275=)
c.720C>A (p.Thr240=)
3g.122262343C>GCA435424946CASRc.1308C>G (p.Thr436=)
c.825C>G (p.Thr275=)
c.720C>G (p.Thr240=)
3g.122262343C>TCA435424949CASRc.1308C>T (p.Thr436=)
c.825C>T (p.Thr275=)
c.720C>T (p.Thr240=)
3g.122262344T>ACA354153048CASRc.1309T>A (p.Cys437Ser)
c.826T>A (p.Cys276Ser)
c.721T>A (p.Cys241Ser)
 ClinVar dbSNP
3g.122262344T>CCA354153046CASRc.1309T>C (p.Cys437Arg)
c.826T>C (p.Cys276Arg)
c.721T>C (p.Cys241Arg)
 ClinVar dbSNP
3g.122262344T>GCA354153047CASRc.1309T>G (p.Cys437Gly)
c.826T>G (p.Cys276Gly)
c.721T>G (p.Cys241Gly)
3g.122262344T=CA1397873927CASRc.1309T= (p.Cys437=)
c.826T= (p.Cys276=)
c.721T= (p.Cys241=)
3g.122262345G>ACA354153049CASRc.1310G>A (p.Cys437Tyr)
c.827G>A (p.Cys276Tyr)
c.722G>A (p.Cys241Tyr)
3g.122262345G>CCA354153050CASRc.1310G>C (p.Cys437Ser)
c.827G>C (p.Cys276Ser)
c.722G>C (p.Cys241Ser)
3g.122262345G>TCA354153053CASRc.1310G>T (p.Cys437Phe)
c.827G>T (p.Cys276Phe)
c.722G>T (p.Cys241Phe)
3g.122262346C>ACA354153056CASRc.1311C>A (p.Cys437Ter)
c.828C>A (p.Cys276Ter)
c.723C>A (p.Cys241Ter)
3g.122262346C>GCA354153058CASRc.1311C>G (p.Cys437Trp)
c.828C>G (p.Cys276Trp)
c.723C>G (p.Cys241Trp)
3g.122262346C>TCA435424956CASRc.1311C>T (p.Cys437=)
c.828C>T (p.Cys276=)
c.723C>T (p.Cys241=)
 ClinVar dbSNP
3g.122262347T>ACA354153061CASRc.1312T>A (p.Leu438Ile)
c.829T>A (p.Leu277Ile)
c.724T>A (p.Leu242Ile)
3g.122262347T>CCA435424958CASRc.1312T>C (p.Leu438=)
c.829T>C (p.Leu277=)
c.724T>C (p.Leu242=)
 ClinVar dbSNP
3g.122262347T>GCA354153063CASRc.1312T>G (p.Leu438Val)
c.829T>G (p.Leu277Val)
c.724T>G (p.Leu242Val)
3g.122262347T=CA1397873930CASRc.1312T= (p.Leu438=)
c.829T= (p.Leu277=)
c.724T= (p.Leu242=)
3g.122262348T>ACA354153066CASRc.1313T>A (p.Leu438Ter)
c.830T>A (p.Leu277Ter)
c.725T>A (p.Leu242Ter)
3g.122262348T>CCA354153068CASRc.1313T>C (p.Leu438Ser)
c.830T>C (p.Leu277Ser)
c.725T>C (p.Leu242Ser)
 ClinVar
3g.122262348T>GCA354153070CASRc.1313T>G (p.Leu438Ter)
c.830T>G (p.Leu277Ter)
c.725T>G (p.Leu242Ter)
3g.122262349A>CCA354153072CASRc.1314A>C (p.Leu438Phe)
c.831A>C (p.Leu277Phe)
c.726A>C (p.Leu242Phe)
3g.122262349A>GCA435424961CASRc.1314A>G (p.Leu438=)
c.831A>G (p.Leu277=)
c.726A>G (p.Leu242=)
3g.122262349A>TCA354153073CASRc.1314A>T (p.Leu438Phe)
c.831A>T (p.Leu277Phe)
c.726A>T (p.Leu242Phe)
3g.122262350C>ACA354153075CASRc.1315C>A (p.Pro439Thr)
c.832C>A (p.Pro278Thr)
c.727C>A (p.Pro243Thr)
 COSMIC
3g.122262350C>GCA354153078CASRc.1315C>G (p.Pro439Ala)
c.832C>G (p.Pro278Ala)
c.727C>G (p.Pro243Ala)
3g.122262350C>TCA354153076CASRc.1315C>T (p.Pro439Ser)
c.832C>T (p.Pro278Ser)
c.727C>T (p.Pro243Ser)
3g.122262351C>ACA354153081CASRc.1316C>A (p.Pro439His)
c.833C>A (p.Pro278His)
c.728C>A (p.Pro243His)
 ClinVar dbSNP
3g.122262351C=CA1397873934CASRc.1316C= (p.Pro439=)
c.833C= (p.Pro278=)
c.728C= (p.Pro243=)
3g.122262351C>GCA354153083CASRc.1316C>G (p.Pro439Arg)
c.833C>G (p.Pro278Arg)
c.728C>G (p.Pro243Arg)
3g.122262351C>TCA354153086CASRc.1316C>T (p.Pro439Leu)
c.833C>T (p.Pro278Leu)
c.728C>T (p.Pro243Leu)
3g.122262352T>ACA435424969CASRc.1317T>A (p.Pro439=)
c.834T>A (p.Pro278=)
c.729T>A (p.Pro243=)
3g.122262352T>CCA2569622CASRc.1317T>C (p.Pro439=)
c.834T>C (p.Pro278=)
c.729T>C (p.Pro243=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262352T>GCA435424973CASRc.1317T>G (p.Pro439=)
c.834T>G (p.Pro278=)
c.729T>G (p.Pro243=)
3g.122262352T=CA1397873936CASRc.1317T= (p.Pro439=)
c.834T= (p.Pro278=)
c.729T= (p.Pro243=)
3g.122262353G>ACA354153091CASRc.1318G>A (p.Gly440Arg)
c.835G>A (p.Gly279Arg)
c.730G>A (p.Gly244Arg)
3g.122262353G>CCA354153093CASRc.1318G>C (p.Gly440Arg)
c.835G>C (p.Gly279Arg)
c.730G>C (p.Gly244Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262353G=CA1397873937CASRc.1318G= (p.Gly440=)
c.835G= (p.Gly279=)
c.730G= (p.Gly244=)
3g.122262353G>TCA354153095CASRc.1318G>T (p.Gly440Trp)
c.835G>T (p.Gly279Trp)
c.730G>T (p.Gly244Trp)
3g.122262355delCA435424977CASRc.1320del (p.Arg441GlufsTer?)
c.1320del (p.Arg441GlufsTer21)
c.837del (p.Arg280GlufsTer21)
c.732del (p.Arg245GlufsTer21)
 COSMIC
3g.122262354G>ACA354153098CASRc.1319G>A (p.Gly440Glu)
c.836G>A (p.Gly279Glu)
c.731G>A (p.Gly244Glu)
 ClinVar COSMIC
3g.122262354G>CCA354153100CASRc.1319G>C (p.Gly440Ala)
c.836G>C (p.Gly279Ala)
c.731G>C (p.Gly244Ala)
3g.122262354G>TCA354153103CASRc.1319G>T (p.Gly440Val)
c.836G>T (p.Gly279Val)
c.731G>T (p.Gly244Val)
3g.122262355G>ACA435424983CASRc.1320G>A (p.Gly440=)
c.837G>A (p.Gly279=)
c.732G>A (p.Gly244=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262355G>CCA435424987CASRc.1320G>C (p.Gly440=)
c.837G>C (p.Gly279=)
c.732G>C (p.Gly244=)
3g.122262355G=CA1397873938CASRc.1320G= (p.Gly440=)
c.837G= (p.Gly279=)
c.732G= (p.Gly244=)
3g.122262355G>TCA82739119CASRc.1320G>T (p.Gly440=)
c.837G>T (p.Gly279=)
c.732G>T (p.Gly244=)
 dbSNP gnomAD v2 gnomAD v4
3g.122262356A>CCA435424988CASRc.1321A>C (p.Arg441=)
c.838A>C (p.Arg280=)
c.733A>C (p.Arg245=)
3g.122262356A>GCA354153108CASRc.1321A>G (p.Arg441Gly)
c.838A>G (p.Arg280Gly)
c.733A>G (p.Arg245Gly)
3g.122262356A>TCA354153110CASRc.1321A>T (p.Arg441Ter)
c.838A>T (p.Arg280Ter)
c.733A>T (p.Arg245Ter)
3g.122262357G>ACA354153113CASRc.1322G>A (p.Arg441Lys)
c.839G>A (p.Arg280Lys)
c.734G>A (p.Arg245Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262357G>CCA354153115CASRc.1322G>C (p.Arg441Thr)
c.839G>C (p.Arg280Thr)
c.734G>C (p.Arg245Thr)
3g.122262357G=CA1397873939CASRc.1322G= (p.Arg441=)
c.839G= (p.Arg280=)
c.734G= (p.Arg245=)
3g.122262357G>TCA354153117CASRc.1322G>T (p.Arg441Ile)
c.839G>T (p.Arg280Ile)
c.734G>T (p.Arg245Ile)
3g.122262358A>CCA354153119CASRc.1323A>C (p.Arg441Ser)
c.840A>C (p.Arg280Ser)
c.735A>C (p.Arg245Ser)
3g.122262358A>GCA435424997CASRc.1323A>G (p.Arg441=)
c.840A>G (p.Arg280=)
c.735A>G (p.Arg245=)
 ClinVar
3g.122262358A>TCA354153121CASRc.1323A>T (p.Arg441Ser)
c.840A>T (p.Arg280Ser)
c.735A>T (p.Arg245Ser)
3g.122262359G>ACA354153129CASRc.1324G>A (p.Gly442Arg)
c.841G>A (p.Gly281Arg)
c.736G>A (p.Gly246Arg)
3g.122262359G>CCA354153127CASRc.1324G>C (p.Gly442Arg)
c.841G>C (p.Gly281Arg)
c.736G>C (p.Gly246Arg)
 gnomAD v4
3g.122262359G>TCA354153124CASRc.1324G>T (p.Gly442Trp)
c.841G>T (p.Gly281Trp)
c.736G>T (p.Gly246Trp)
3g.122262360G>ACA354153133CASRc.1325G>A (p.Gly442Glu)
c.842G>A (p.Gly281Glu)
c.737G>A (p.Gly246Glu)
3g.122262360G>CCA354153135CASRc.1325G>C (p.Gly442Ala)
c.842G>C (p.Gly281Ala)
c.737G>C (p.Gly246Ala)
3g.122262360G>TCA354153137CASRc.1325G>T (p.Gly442Val)
c.842G>T (p.Gly281Val)
c.737G>T (p.Gly246Val)
3g.122262361G>ACA435425003CASRc.1326G>A (p.Gly442=)
c.843G>A (p.Gly281=)
c.738G>A (p.Gly246=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262361G>CCA435425006CASRc.1326G>C (p.Gly442=)
c.843G>C (p.Gly281=)
c.738G>C (p.Gly246=)
3g.122262361G=CA1397873940CASRc.1326G= (p.Gly442=)
c.843G= (p.Gly281=)
c.738G= (p.Gly246=)
3g.122262361G>TCA435425007CASRc.1326G>T (p.Gly442=)
c.843G>T (p.Gly281=)
c.738G>T (p.Gly246=)
3g.122262362C>ACA16611301CASRc.1327C>A (p.Leu443Ile)
c.844C>A (p.Leu282Ile)
c.739C>A (p.Leu247Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262362C=CA1397873941CASRc.1327C= (p.Leu443=)
c.844C= (p.Leu282=)
c.739C= (p.Leu247=)
3g.122262362C>GCA354153141CASRc.1327C>G (p.Leu443Val)
c.844C>G (p.Leu282Val)
c.739C>G (p.Leu247Val)
3g.122262362C>TCA82739130CASRc.1327C>T (p.Leu443Phe)
c.844C>T (p.Leu282Phe)
c.739C>T (p.Leu247Phe)
 ClinVar dbSNP gnomAD v4
3g.122262363T>ACA354153146CASRc.1328T>A (p.Leu443His)
c.845T>A (p.Leu282His)
c.740T>A (p.Leu247His)
3g.122262363T>CCA354153148CASRc.1328T>C (p.Leu443Pro)
c.845T>C (p.Leu282Pro)
c.740T>C (p.Leu247Pro)
 ClinVar dbSNP
3g.122262363T>GCA354153147CASRc.1328T>G (p.Leu443Arg)
c.845T>G (p.Leu282Arg)
c.740T>G (p.Leu247Arg)
 ClinVar
3g.122262364C>ACA435425013CASRc.1329C>A (p.Leu443=)
c.846C>A (p.Leu282=)
c.741C>A (p.Leu247=)
3g.122262364C>GCA435425015CASRc.1329C>G (p.Leu443=)
c.846C>G (p.Leu282=)
c.741C>G (p.Leu247=)
3g.122262364C>TCA435425016CASRc.1329C>T (p.Leu443=)
c.846C>T (p.Leu282=)
c.741C>T (p.Leu247=)
3g.122262365T>ACA354153150CASRc.1330T>A (p.Phe444Ile)
c.847T>A (p.Phe283Ile)
c.742T>A (p.Phe248Ile)
3g.122262365T>CCA354153152CASRc.1330T>C (p.Phe444Leu)
c.847T>C (p.Phe283Leu)
c.742T>C (p.Phe248Leu)
3g.122262365T>GCA354153154CASRc.1330T>G (p.Phe444Val)
c.847T>G (p.Phe283Val)
c.742T>G (p.Phe248Val)
3g.122262366T>ACA354153157CASRc.1331T>A (p.Phe444Tyr)
c.848T>A (p.Phe283Tyr)
c.743T>A (p.Phe248Tyr)
3g.122262366T>CCA354153159CASRc.1331T>C (p.Phe444Ser)
c.848T>C (p.Phe283Ser)
c.743T>C (p.Phe248Ser)
3g.122262366T>GCA354153161CASRc.1331T>G (p.Phe444Cys)
c.848T>G (p.Phe283Cys)
c.743T>G (p.Phe248Cys)
 ClinVar
3g.122262367C>ACA354153164CASRc.1332C>A (p.Phe444Leu)
c.849C>A (p.Phe283Leu)
c.744C>A (p.Phe248Leu)
 gnomAD v4
3g.122262367C>GCA354153166CASRc.1332C>G (p.Phe444Leu)
c.849C>G (p.Phe283Leu)
c.744C>G (p.Phe248Leu)
3g.122262367C>TCA435425023CASRc.1332C>T (p.Phe444=)
c.849C>T (p.Phe283=)
c.744C>T (p.Phe248=)
3g.122262368A=CA1397873942CASRc.1333A= (p.Thr445=)
c.850A= (p.Thr284=)
c.745A= (p.Thr249=)
3g.122262368A>CCA354153170CASRc.1333A>C (p.Thr445Pro)
c.850A>C (p.Thr284Pro)
c.745A>C (p.Thr249Pro)
 ClinVar
3g.122262368A>GCA202248CASRc.1333A>G (p.Thr445Ala)
c.850A>G (p.Thr284Ala)
c.745A>G (p.Thr249Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262368A>TCA354153174CASRc.1333A>T (p.Thr445Ser)
c.850A>T (p.Thr284Ser)
c.745A>T (p.Thr249Ser)
3g.122262369C>ACA354153181CASRc.1334C>A (p.Thr445Asn)
c.851C>A (p.Thr284Asn)
c.746C>A (p.Thr249Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262369C=CA1397873944CASRc.1334C= (p.Thr445=)
c.851C= (p.Thr284=)
c.746C= (p.Thr249=)
3g.122262369C>GCA354153178CASRc.1334C>G (p.Thr445Ser)
c.851C>G (p.Thr284Ser)
c.746C>G (p.Thr249Ser)
 ClinVar
3g.122262369C>TCA354153177CASRc.1334C>T (p.Thr445Ile)
c.851C>T (p.Thr284Ile)
c.746C>T (p.Thr249Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262370C>ACA435425027CASRc.1335C>A (p.Thr445=)
c.852C>A (p.Thr284=)
c.747C>A (p.Thr249=)
 ClinVar
3g.122262370C>GCA435425029CASRc.1335C>G (p.Thr445=)
c.852C>G (p.Thr284=)
c.747C>G (p.Thr249=)
3g.122262370C>TCA435425031CASRc.1335C>T (p.Thr445=)
c.852C>T (p.Thr284=)
c.747C>T (p.Thr249=)
 ClinVar
3g.122262371A>CCA354153184CASRc.1336A>C (p.Asn446His)
c.853A>C (p.Asn285His)
c.748A>C (p.Asn250His)
3g.122262371A>GCA354153189CASRc.1336A>G (p.Asn446Asp)
c.853A>G (p.Asn285Asp)
c.748A>G (p.Asn250Asp)
3g.122262371A>TCA354153186CASRc.1336A>T (p.Asn446Tyr)
c.853A>T (p.Asn285Tyr)
c.748A>T (p.Asn250Tyr)
3g.122262372A=CA1397873946CASRc.1337A= (p.Asn446=)
c.854A= (p.Asn285=)
c.749A= (p.Asn250=)
3g.122262372A>CCA354153193CASRc.1337A>C (p.Asn446Thr)
c.854A>C (p.Asn285Thr)
c.749A>C (p.Asn250Thr)
3g.122262372A>GCA354153195CASRc.1337A>G (p.Asn446Ser)
c.854A>G (p.Asn285Ser)
c.749A>G (p.Asn250Ser)
 ClinVar dbSNP gnomAD v4
3g.122262372A>TCA354153197CASRc.1337A>T (p.Asn446Ile)
c.854A>T (p.Asn285Ile)
c.749A>T (p.Asn250Ile)
3g.122262373T>ACA354153200CASRc.1338T>A (p.Asn446Lys)
c.855T>A (p.Asn285Lys)
c.750T>A (p.Asn250Lys)
3g.122262373T>CCA2569623CASRc.1338T>C (p.Asn446=)
c.855T>C (p.Asn285=)
c.750T>C (p.Asn250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262373T>GCA354153203CASRc.1338T>G (p.Asn446Lys)
c.855T>G (p.Asn285Lys)
c.750T>G (p.Asn250Lys)
3g.122262373T=CA1397873950CASRc.1338T= (p.Asn446=)
c.855T= (p.Asn285=)
c.750T= (p.Asn250=)
3g.122262374G>ACA354153211CASRc.1339G>A (p.Gly447Ser)
c.856G>A (p.Gly286Ser)
c.751G>A (p.Gly251Ser)
3g.122262374G>CCA354153209CASRc.1339G>C (p.Gly447Arg)
c.856G>C (p.Gly286Arg)
c.751G>C (p.Gly251Arg)
3g.122262374G>TCA354153207CASRc.1339G>T (p.Gly447Cys)
c.856G>T (p.Gly286Cys)
c.751G>T (p.Gly251Cys)
3g.122262375G>ACA2569624CASRc.1340G>A (p.Gly447Asp)
c.857G>A (p.Gly286Asp)
c.752G>A (p.Gly251Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262375G>CCA354153215CASRc.1340G>C (p.Gly447Ala)
c.857G>C (p.Gly286Ala)
c.752G>C (p.Gly251Ala)
3g.122262375G=CA1397873958CASRc.1340G= (p.Gly447=)
c.857G= (p.Gly286=)
c.752G= (p.Gly251=)
3g.122262375G>TCA354153217CASRc.1340G>T (p.Gly447Val)
c.857G>T (p.Gly286Val)
c.752G>T (p.Gly251Val)
 ClinVar
3g.122262376C>ACA435425041CASRc.1341C>A (p.Gly447=)
c.858C>A (p.Gly286=)
c.753C>A (p.Gly251=)
3g.122262376C=CA1397873963CASRc.1341C= (p.Gly447=)
c.858C= (p.Gly286=)
c.753C= (p.Gly251=)
3g.122262376C>GCA435425047CASRc.1341C>G (p.Gly447=)
c.858C>G (p.Gly286=)
c.753C>G (p.Gly251=)
3g.122262376C>TCA435425044CASRc.1341C>T (p.Gly447=)
c.858C>T (p.Gly286=)
c.753C>T (p.Gly251=)
 ClinVar dbSNP COSMIC
3g.122262377T>ACA354153220CASRc.1342T>A (p.Ser448Thr)
c.859T>A (p.Ser287Thr)
c.754T>A (p.Ser252Thr)
 ClinVar
3g.122262377T>CCA354153222CASRc.1342T>C (p.Ser448Pro)
c.859T>C (p.Ser287Pro)
c.754T>C (p.Ser252Pro)
3g.122262377T>GCA354153225CASRc.1342T>G (p.Ser448Ala)
c.859T>G (p.Ser287Ala)
c.754T>G (p.Ser252Ala)
3g.122262378C>ACA354153227CASRc.1343C>A (p.Ser448Tyr)
c.860C>A (p.Ser287Tyr)
c.755C>A (p.Ser252Tyr)
3g.122262378C>GCA354153232CASRc.1343C>G (p.Ser448Cys)
c.860C>G (p.Ser287Cys)
c.755C>G (p.Ser252Cys)
 ClinVar gnomAD v4
3g.122262378C>TCA354153230CASRc.1343C>T (p.Ser448Phe)
c.860C>T (p.Ser287Phe)
c.755C>T (p.Ser252Phe)
 gnomAD v4
3g.122262379C>ACA435425054CASRc.1344C>A (p.Ser448=)
c.861C>A (p.Ser287=)
c.756C>A (p.Ser252=)
3g.122262379C>GCA435425055CASRc.1344C>G (p.Ser448=)
c.861C>G (p.Ser287=)
c.756C>G (p.Ser252=)
3g.122262379C>TCA435425056CASRc.1344C>T (p.Ser448=)
c.861C>T (p.Ser287=)
c.756C>T (p.Ser252=)
 gnomAD v4 COSMIC
3g.122262380T>ACA354153234CASRc.1345T>A (p.Cys449Ser)
c.862T>A (p.Cys288Ser)
c.757T>A (p.Cys253Ser)
3g.122262380T>CCA354153237CASRc.1345T>C (p.Cys449Arg)
c.862T>C (p.Cys288Arg)
c.757T>C (p.Cys253Arg)
3g.122262380T>GCA354153239CASRc.1345T>G (p.Cys449Gly)
c.862T>G (p.Cys288Gly)
c.757T>G (p.Cys253Gly)
3g.122262381G>ACA354153242CASRc.1346G>A (p.Cys449Tyr)
c.863G>A (p.Cys288Tyr)
c.758G>A (p.Cys253Tyr)
3g.122262381G>CCA354153244CASRc.1346G>C (p.Cys449Ser)
c.863G>C (p.Cys288Ser)
c.758G>C (p.Cys253Ser)
3g.122262381G>TCA354153245CASRc.1346G>T (p.Cys449Phe)
c.863G>T (p.Cys288Phe)
c.758G>T (p.Cys253Phe)
3g.122262382T>ACA354153249CASRc.1347T>A (p.Cys449Ter)
c.864T>A (p.Cys288Ter)
c.759T>A (p.Cys253Ter)
3g.122262382T>CCA435425059CASRc.1347T>C (p.Cys449=)
c.864T>C (p.Cys288=)
c.759T>C (p.Cys253=)
3g.122262382T>GCA354153251CASRc.1347T>G (p.Cys449Trp)
c.864T>G (p.Cys288Trp)
c.759T>G (p.Cys253Trp)
3g.122262383G>ACA354153254CASRc.1348G>A (p.Ala450Thr)
c.865G>A (p.Ala289Thr)
c.760G>A (p.Ala254Thr)
 ClinVar
3g.122262383G>CCA354153255CASRc.1348G>C (p.Ala450Pro)
c.865G>C (p.Ala289Pro)
c.760G>C (p.Ala254Pro)
3g.122262383G>TCA354153257CASRc.1348G>T (p.Ala450Ser)
c.865G>T (p.Ala289Ser)
c.760G>T (p.Ala254Ser)
3g.122262384C>ACA354153261CASRc.1349C>A (p.Ala450Glu)
c.866C>A (p.Ala289Glu)
c.761C>A (p.Ala254Glu)
3g.122262384C=CA1397873970CASRc.1349C= (p.Ala450=)
c.866C= (p.Ala289=)
c.761C= (p.Ala254=)
3g.122262384C>GCA354153265CASRc.1349C>G (p.Ala450Gly)
c.866C>G (p.Ala289Gly)
c.761C>G (p.Ala254Gly)
 gnomAD v4
3g.122262384C>TCA354153263CASRc.1349C>T (p.Ala450Val)
c.866C>T (p.Ala289Val)
c.761C>T (p.Ala254Val)
 dbSNP gnomAD v2
3g.122262385A>CCA435425064CASRc.1350A>C (p.Ala450=)
c.867A>C (p.Ala289=)
c.762A>C (p.Ala254=)
3g.122262385A>GCA435425066CASRc.1350A>G (p.Ala450=)
c.867A>G (p.Ala289=)
c.762A>G (p.Ala254=)
3g.122262385A>TCA435425068CASRc.1350A>T (p.Ala450=)
c.867A>T (p.Ala289=)
c.762A>T (p.Ala254=)
3g.122262386G>ACA2569625CASRc.1351G>A (p.Asp451Asn)
c.868G>A (p.Asp290Asn)
c.763G>A (p.Asp255Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262386G>CCA354153268CASRc.1351G>C (p.Asp451His)
c.868G>C (p.Asp290His)
c.763G>C (p.Asp255His)
3g.122262386G=CA1397873975CASRc.1351G= (p.Asp451=)
c.868G= (p.Asp290=)
c.763G= (p.Asp255=)
3g.122262386G>TCA354153270CASRc.1351G>T (p.Asp451Tyr)
c.868G>T (p.Asp290Tyr)
c.763G>T (p.Asp255Tyr)
 ClinVar dbSNP
3g.122262387A>CCA354153274CASRc.1352A>C (p.Asp451Ala)
c.869A>C (p.Asp290Ala)
c.764A>C (p.Asp255Ala)
3g.122262387A>GCA354153276CASRc.1352A>G (p.Asp451Gly)
c.869A>G (p.Asp290Gly)
c.764A>G (p.Asp255Gly)
3g.122262387A>TCA354153278CASRc.1352A>T (p.Asp451Val)
c.869A>T (p.Asp290Val)
c.764A>T (p.Asp255Val)
 gnomAD v4
3g.122262388C>ACA354153281CASRc.1353C>A (p.Asp451Glu)
c.870C>A (p.Asp290Glu)
c.765C>A (p.Asp255Glu)
3g.122262388C=CA1397873977CASRc.1353C= (p.Asp451=)
c.870C= (p.Asp290=)
c.765C= (p.Asp255=)
3g.122262388C>GCA354153283CASRc.1353C>G (p.Asp451Glu)
c.870C>G (p.Asp290Glu)
c.765C>G (p.Asp255Glu)
3g.122262388C>TCA435425073CASRc.1353C>T (p.Asp451=)
c.870C>T (p.Asp290=)
c.765C>T (p.Asp255=)
 ClinVar dbSNP
3g.122262389A=CA1397873980CASRc.1354A= (p.Ile452=)
c.871A= (p.Ile291=)
c.766A= (p.Ile256=)
3g.122262389A>CCA354153285CASRc.1354A>C (p.Ile452Leu)
c.871A>C (p.Ile291Leu)
c.766A>C (p.Ile256Leu)
3g.122262389A>GCA2569626CASRc.1354A>G (p.Ile452Val)
c.871A>G (p.Ile291Val)
c.766A>G (p.Ile256Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262389A>TCA354153289CASRc.1354A>T (p.Ile452Phe)
c.871A>T (p.Ile291Phe)
c.766A>T (p.Ile256Phe)
 ClinVar
3g.122262390T>ACA354153297CASRc.1355T>A (p.Ile452Asn)
c.872T>A (p.Ile291Asn)
c.767T>A (p.Ile256Asn)
 ClinVar
3g.122262390T>CCA354153294CASRc.1355T>C (p.Ile452Thr)
c.872T>C (p.Ile291Thr)
c.767T>C (p.Ile256Thr)
3g.122262390T>GCA354153292CASRc.1355T>G (p.Ile452Ser)
c.872T>G (p.Ile291Ser)
c.767T>G (p.Ile256Ser)
3g.122262391C>ACA435425081CASRc.1356C>A (p.Ile452=)
c.873C>A (p.Ile291=)
c.768C>A (p.Ile256=)
 dbSNP
3g.122262391C=CA1397873984CASRc.1356C= (p.Ile452=)
c.873C= (p.Ile291=)
c.768C= (p.Ile256=)
3g.122262391C>GCA354153299CASRc.1356C>G (p.Ile452Met)
c.873C>G (p.Ile291Met)
c.768C>G (p.Ile256Met)
3g.122262391C>TCA435425084CASRc.1356C>T (p.Ile452=)
c.873C>T (p.Ile291=)
c.768C>T (p.Ile256=)

Number of alleles fetched