Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31536377C>ACA503600771DSG2c.1599C>A (p.Val533=)
c.1065C>A (p.Val355=)
18g.31536377C>GCA503600772DSG2c.1599C>G (p.Val533=)
c.1065C>G (p.Val355=)
18g.31536377C>TCA503600774DSG2c.1599C>T (p.Val533=)
c.1065C>T (p.Val355=)
 ClinVar
18g.31536378A>CCA402141987DSG2c.1600A>C (p.Ile534Leu)
c.1066A>C (p.Ile356Leu)
18g.31536378A>GCA402141989DSG2c.1600A>G (p.Ile534Val)
c.1066A>G (p.Ile356Val)
 gnomAD v4
18g.31536378A>TCA402141992DSG2c.1600A>T (p.Ile534Phe)
c.1066A>T (p.Ile356Phe)
18g.31536379T>ACA402141994DSG2c.1601T>A (p.Ile534Asn)
c.1067T>A (p.Ile356Asn)
 gnomAD v4
18g.31536379T>CCA402141996DSG2c.1601T>C (p.Ile534Thr)
c.1067T>C (p.Ile356Thr)
 ClinVar dbSNP
18g.31536379T>GCA402141999DSG2c.1601T>G (p.Ile534Ser)
c.1067T>G (p.Ile356Ser)
18g.31536380T>ACA503600776DSG2c.1602T>A (p.Ile534=)
c.1068T>A (p.Ile356=)
18g.31536380T>CCA503600777DSG2c.1602T>C (p.Ile534=)
c.1068T>C (p.Ile356=)
18g.31536380T>GCA402142004DSG2c.1602T>G (p.Ile534Met)
c.1068T>G (p.Ile356Met)
18g.31536381G>ACA402142008DSG2c.1603G>A (p.Asp535Asn)
c.1069G>A (p.Asp357Asn)
18g.31536381G>CCA402142019DSG2c.1603G>C (p.Asp535His)
c.1069G>C (p.Asp357His)
18g.31536381G>TCA402142007DSG2c.1603G>T (p.Asp535Tyr)
c.1069G>T (p.Asp357Tyr)
18g.31536382A>CCA402142023DSG2c.1604A>C (p.Asp535Ala)
c.1070A>C (p.Asp357Ala)
18g.31536382A>GCA402142032DSG2c.1604A>G (p.Asp535Gly)
c.1070A>G (p.Asp357Gly)
18g.31536382A>TCA402142034DSG2c.1604A>T (p.Asp535Val)
c.1070A>T (p.Asp357Val)
18g.31536383C>ACA042967DSG2c.1605C>A (p.Asp535Glu)
c.1071C>A (p.Asp357Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536383C=CA2293861991DSG2c.1605C= (p.Asp535=)
c.1071C= (p.Asp357=)
18g.31536383C>GCA042988DSG2c.1605C>G (p.Asp535Glu)
c.1071C>G (p.Asp357Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536383C>TCA503600778DSG2c.1605C>T (p.Asp535=)
c.1071C>T (p.Asp357=)
18g.31536384A>CCA402142044DSG2c.1606A>C (p.Lys536Gln)
c.1072A>C (p.Lys358Gln)
18g.31536384A>GCA402142038DSG2c.1606A>G (p.Lys536Glu)
c.1072A>G (p.Lys358Glu)
18g.31536384A>TCA402142042DSG2c.1606A>T (p.Lys536Ter)
c.1072A>T (p.Lys358Ter)
18g.31536385A>CCA402142046DSG2c.1607A>C (p.Lys536Thr)
c.1073A>C (p.Lys358Thr)
18g.31536385A>GCA402142047DSG2c.1607A>G (p.Lys536Arg)
c.1073A>G (p.Lys358Arg)
18g.31536385A>TCA402142049DSG2c.1607A>T (p.Lys536Ile)
c.1073A>T (p.Lys358Ile)
18g.31536386A>CCA402142050DSG2c.1608A>C (p.Lys536Asn)
c.1074A>C (p.Lys358Asn)
18g.31536386A>GCA503600780DSG2c.1608A>G (p.Lys536=)
c.1074A>G (p.Lys358=)
 gnomAD v4
18g.31536386A>TCA402142052DSG2c.1608A>T (p.Lys536Asn)
c.1074A>T (p.Lys358Asn)
 COSMIC
18g.31536387C>ACA402142060DSG2c.1609C>A (p.Pro537Thr)
c.1075C>A (p.Pro359Thr)
18g.31536387C=CA2293861992DSG2c.1609C= (p.Pro537=)
c.1075C= (p.Pro359=)
18g.31536387C>GCA043002DSG2c.1609C>G (p.Pro537Ala)
c.1075C>G (p.Pro359Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31536387C>TCA402142054DSG2c.1609C>T (p.Pro537Ser)
c.1075C>T (p.Pro359Ser)
18g.31536388C>ACA402142063DSG2c.1610C>A (p.Pro537Gln)
c.1076C>A (p.Pro359Gln)
 ClinVar dbSNP
18g.31536388C=CA2293861993DSG2c.1610C= (p.Pro537=)
c.1076C= (p.Pro359=)
18g.31536388C>GCA402142067DSG2c.1610C>G (p.Pro537Arg)
c.1076C>G (p.Pro359Arg)
18g.31536388C>TCA402142066DSG2c.1610C>T (p.Pro537Leu)
c.1076C>T (p.Pro359Leu)
 dbSNP gnomAD v3 gnomAD v4
18g.31536389A>CCA503600784DSG2c.1611A>C (p.Pro537=)
c.1077A>C (p.Pro359=)
18g.31536389A>GCA503600785DSG2c.1611A>G (p.Pro537=)
c.1077A>G (p.Pro359=)
18g.31536389A>TCA503600786DSG2c.1611A>T (p.Pro537=)
c.1077A>T (p.Pro359=)
18g.31536390C>ACA402142070DSG2c.1612C>A (p.Pro538Thr)
c.1078C>A (p.Pro360Thr)
18g.31536390C=CA2293861994DSG2c.1612C= (p.Pro538=)
c.1078C= (p.Pro360=)
18g.31536390C>GCA043027DSG2c.1612C>G (p.Pro538Ala)
c.1078C>G (p.Pro360Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31536390C>TCA402142071DSG2c.1612C>T (p.Pro538Ser)
c.1078C>T (p.Pro360Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31536391C>ACA402142073DSG2c.1613C>A (p.Pro538His)
c.1079C>A (p.Pro360His)
18g.31536391C=CA2293861995DSG2c.1613C= (p.Pro538=)
c.1079C= (p.Pro360=)
18g.31536391C>GCA043034DSG2c.1613C>G (p.Pro538Arg)
c.1079C>G (p.Pro360Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536391C>TCA297741605DSG2c.1613C>T (p.Pro538Leu)
c.1079C>T (p.Pro360Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
18g.31536392T>ACA503600791DSG2c.1614T>A (p.Pro538=)
c.1080T>A (p.Pro360=)
18g.31536392T>CCA503600793DSG2c.1614T>C (p.Pro538=)
c.1080T>C (p.Pro360=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.31536392T>GCA503600789DSG2c.1614T>G (p.Pro538=)
c.1080T>G (p.Pro360=)
18g.31536392T=CA2293861996DSG2c.1614T= (p.Pro538=)
c.1080T= (p.Pro360=)
18g.31536393G>ACA402142079DSG2c.1615G>A (p.Gly539Ser)
c.1081G>A (p.Gly361Ser)
18g.31536393G>CCA402142083DSG2c.1615G>C (p.Gly539Arg)
c.1081G>C (p.Gly361Arg)
18g.31536393G>TCA402142085DSG2c.1615G>T (p.Gly539Cys)
c.1081G>T (p.Gly361Cys)
18g.31536394G>ACA402142086DSG2c.1616G>A (p.Gly539Asp)
c.1082G>A (p.Gly361Asp)
 gnomAD v4
18g.31536394G>CCA402142087DSG2c.1616G>C (p.Gly539Ala)
c.1082G>C (p.Gly361Ala)
18g.31536394G>TCA402142089DSG2c.1616G>T (p.Gly539Val)
c.1082G>T (p.Gly361Val)
 gnomAD v4
18g.31536395C>ACA503600807DSG2c.1617C>A (p.Gly539=)
c.1083C>A (p.Gly361=)
18g.31536395C=CA2293861997DSG2c.1617C= (p.Gly539=)
c.1083C= (p.Gly361=)
18g.31536395C>GCA503600804DSG2c.1617C>G (p.Gly539=)
c.1083C>G (p.Gly361=)
18g.31536395C>TCA503600802DSG2c.1617C>T (p.Gly539=)
c.1083C>T (p.Gly361=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31536396A=CA2293861998DSG2c.1618A= (p.Met540=)
c.1084A= (p.Met362=)
18g.31536396A>CCA402142092DSG2c.1618A>C (p.Met540Leu)
c.1084A>C (p.Met362Leu)
18g.31536396A>GCA043040DSG2c.1618A>G (p.Met540Val)
c.1084A>G (p.Met362Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536396A>TCA402142096DSG2c.1618A>T (p.Met540Leu)
c.1084A>T (p.Met362Leu)
18g.31536397T>ACA402142099DSG2c.1619T>A (p.Met540Lys)
c.1085T>A (p.Met362Lys)
18g.31536397T>CCA402142102DSG2c.1619T>C (p.Met540Thr)
c.1085T>C (p.Met362Thr)
18g.31536397T>GCA402142100DSG2c.1619T>G (p.Met540Arg)
c.1085T>G (p.Met362Arg)
18g.31536398G>ACA402142103DSG2c.1620G>A (p.Met540Ile)
c.1086G>A (p.Met362Ile)
18g.31536398G>CCA402142105DSG2c.1620G>C (p.Met540Ile)
c.1086G>C (p.Met362Ile)
18g.31536398G>TCA402142107DSG2c.1620G>T (p.Met540Ile)
c.1086G>T (p.Met362Ile)
18g.31536399G>ACA402142108DSG2c.1621G>A (p.Ala541Thr)
c.1087G>A (p.Ala363Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31536399G>CCA402142109DSG2c.1621G>C (p.Ala541Pro)
c.1087G>C (p.Ala363Pro)
18g.31536399G=CA2293861999DSG2c.1621G= (p.Ala541=)
c.1087G= (p.Ala363=)
18g.31536399G>TCA402142110DSG2c.1621G>T (p.Ala541Ser)
c.1087G>T (p.Ala363Ser)
18g.31536400C>ACA402142112DSG2c.1622C>A (p.Ala541Glu)
c.1088C>A (p.Ala363Glu)
18g.31536400C=CA2293862000DSG2c.1622C= (p.Ala541=)
c.1088C= (p.Ala363=)
18g.31536400C>GCA043055DSG2c.1622C>G (p.Ala541Gly)
c.1088C>G (p.Ala363Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31536400C>TCA402142115DSG2c.1622C>T (p.Ala541Val)
c.1088C>T (p.Ala363Val)
18g.31536401A>CCA503600822DSG2c.1623A>C (p.Ala541=)
c.1089A>C (p.Ala363=)
18g.31536401A>GCA503600824DSG2c.1623A>G (p.Ala541=)
c.1089A>G (p.Ala363=)
 ClinVar
18g.31536401A>TCA503600826DSG2c.1623A>T (p.Ala541=)
c.1089A>T (p.Ala363=)
18g.31536402G>ACA402142119DSG2c.1624G>A (p.Glu542Lys)
c.1090G>A (p.Glu364Lys)
18g.31536402G>CCA043068DSG2c.1624G>C (p.Glu542Gln)
c.1090G>C (p.Glu364Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536402G=CA2293862001DSG2c.1624G= (p.Glu542=)
c.1090G= (p.Glu364=)
18g.31536402G>TCA402142117DSG2c.1624G>T (p.Glu542Ter)
c.1090G>T (p.Glu364Ter)
 gnomAD v4
18g.31536403A>CCA402142123DSG2c.1625A>C (p.Glu542Ala)
c.1091A>C (p.Glu364Ala)
18g.31536403A>GCA402142125DSG2c.1625A>G (p.Glu542Gly)
c.1091A>G (p.Glu364Gly)
18g.31536403A>TCA402142128DSG2c.1625A>T (p.Glu542Val)
c.1091A>T (p.Glu364Val)
18g.31536404A=CA2293862002DSG2c.1626A= (p.Glu542=)
c.1092A= (p.Glu364=)
18g.31536404A>CCA402142139DSG2c.1626A>C (p.Glu542Asp)
c.1092A>C (p.Glu364Asp)
18g.31536404A>GCA503600832DSG2c.1626A>G (p.Glu542=)
c.1092A>G (p.Glu364=)
 dbSNP gnomAD v4
18g.31536404A>TCA402142142DSG2c.1626A>T (p.Glu542Asp)
c.1092A>T (p.Glu364Asp)
18g.31536405A>CCA402142153DSG2c.1627A>C (p.Lys543Gln)
c.1093A>C (p.Lys365Gln)
18g.31536405A>GCA402142145DSG2c.1627A>G (p.Lys543Glu)
c.1093A>G (p.Lys365Glu)
18g.31536405A>TCA402142151DSG2c.1627A>T (p.Lys543Ter)
c.1093A>T (p.Lys365Ter)
18g.31536406A>CCA402142156DSG2c.1628A>C (p.Lys543Thr)
c.1094A>C (p.Lys365Thr)
18g.31536406A>GCA402142160DSG2c.1628A>G (p.Lys543Arg)
c.1094A>G (p.Lys365Arg)
18g.31536406A>TCA402142162DSG2c.1628A>T (p.Lys543Ile)
c.1094A>T (p.Lys365Ile)
18g.31536407A>CCA402142163DSG2c.1629A>C (p.Lys543Asn)
c.1095A>C (p.Lys365Asn)
18g.31536407A>GCA503600843DSG2c.1629A>G (p.Lys543=)
c.1095A>G (p.Lys365=)
18g.31536407A>TCA402142164DSG2c.1629A>T (p.Lys543Asn)
c.1095A>T (p.Lys365Asn)
18g.31536408T>ACA402142165DSG2c.1630T>A (p.Trp544Arg)
c.1096T>A (p.Trp366Arg)
18g.31536408T>CCA402142167DSG2c.1630T>C (p.Trp544Arg)
c.1096T>C (p.Trp366Arg)
18g.31536408T>GCA402142166DSG2c.1630T>G (p.Trp544Gly)
c.1096T>G (p.Trp366Gly)
 ClinVar gnomAD v4
18g.31536409G>ACA402142170DSG2c.1631G>A (p.Trp544Ter)
c.1097G>A (p.Trp366Ter)
18g.31536409G>CCA402142174DSG2c.1631G>C (p.Trp544Ser)
c.1097G>C (p.Trp366Ser)
18g.31536409G>TCA402142176DSG2c.1631G>T (p.Trp544Leu)
c.1097G>T (p.Trp366Leu)
18g.31536410G>ACA402142179DSG2c.1632G>A (p.Trp544Ter)
c.1098G>A (p.Trp366Ter)
18g.31536410G>CCA402142182DSG2c.1632G>C (p.Trp544Cys)
c.1098G>C (p.Trp366Cys)
18g.31536410G>TCA402142189DSG2c.1632G>T (p.Trp544Cys)
c.1098G>T (p.Trp366Cys)
18g.31536411A=CA2293862003DSG2c.1633A= (p.Lys545=)
c.1099A= (p.Lys367=)
18g.31536411A>CCA297741648DSG2c.1633A>C (p.Lys545Gln)
c.1099A>C (p.Lys367Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31536411A>GCA402142193DSG2c.1633A>G (p.Lys545Glu)
c.1099A>G (p.Lys367Glu)
18g.31536411A>TCA402142195DSG2c.1633A>T (p.Lys545Ter)
c.1099A>T (p.Lys367Ter)
18g.31536412A>CCA402142198DSG2c.1634A>C (p.Lys545Thr)
c.1100A>C (p.Lys367Thr)
18g.31536412A>GCA402142199DSG2c.1634A>G (p.Lys545Arg)
c.1100A>G (p.Lys367Arg)
18g.31536412A>TCA402142201DSG2c.1634A>T (p.Lys545Ile)
c.1100A>T (p.Lys367Ile)
18g.31536413A>CCA402142206DSG2c.1635A>C (p.Lys545Asn)
c.1101A>C (p.Lys367Asn)
18g.31536413A>GCA503600870DSG2c.1635A>G (p.Lys545=)
c.1101A>G (p.Lys367=)
18g.31536413A>TCA402142203DSG2c.1635A>T (p.Lys545Asn)
c.1101A>T (p.Lys367Asn)
18g.31536414A=CA2293862004DSG2c.1636A= (p.Ile546=)
c.1102A= (p.Ile368=)
18g.31536414A>CCA402142208DSG2c.1636A>C (p.Ile546Leu)
c.1102A>C (p.Ile368Leu)
18g.31536414A>GCA043073DSG2c.1636A>G (p.Ile546Val)
c.1102A>G (p.Ile368Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31536414A>TCA402142213DSG2c.1636A>T (p.Ile546Leu)
c.1102A>T (p.Ile368Leu)
18g.31536415T>ACA402142215DSG2c.1637T>A (p.Ile546Lys)
c.1103T>A (p.Ile368Lys)
18g.31536415T>CCA402142220DSG2c.1637T>C (p.Ile546Thr)
c.1103T>C (p.Ile368Thr)
18g.31536415T>GCA402142221DSG2c.1637T>G (p.Ile546Arg)
c.1103T>G (p.Ile368Arg)
18g.31536416A>CCA503600880DSG2c.1638A>C (p.Ile546=)
c.1104A>C (p.Ile368=)
18g.31536416A>GCA402142222DSG2c.1638A>G (p.Ile546Met)
c.1104A>G (p.Ile368Met)
 gnomAD v4
18g.31536416A>TCA503600881DSG2c.1638A>T (p.Ile546=)
c.1104A>T (p.Ile368=)
18g.31536417G>ACA402142226DSG2c.1639G>A (p.Ala547Thr)
c.1105G>A (p.Ala369Thr)
 ClinVar dbSNP gnomAD v4
18g.31536417G>CCA402142234DSG2c.1639G>C (p.Ala547Pro)
c.1105G>C (p.Ala369Pro)
18g.31536417G=CA2293862005DSG2c.1639G= (p.Ala547=)
c.1105G= (p.Ala369=)
18g.31536417G>TCA402142236DSG2c.1639G>T (p.Ala547Ser)
c.1105G>T (p.Ala369Ser)
18g.31536418C>ACA402142240DSG2c.1640C>A (p.Ala547Glu)
c.1106C>A (p.Ala369Glu)
18g.31536418C=CA2293862006DSG2c.1640C= (p.Ala547=)
c.1106C= (p.Ala369=)
18g.31536418C>GCA402142241DSG2c.1640C>G (p.Ala547Gly)
c.1106C>G (p.Ala369Gly)
18g.31536418C>TCA402142242DSG2c.1640C>T (p.Ala547Val)
c.1106C>T (p.Ala369Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31536419A=CA2293862007DSG2c.1641A= (p.Ala547=)
c.1107A= (p.Ala369=)
18g.31536419A>CCA297741663DSG2c.1641A>C (p.Ala547=)
c.1107A>C (p.Ala369=)
 dbSNP gnomAD v3 gnomAD v4
18g.31536419A>GCA503600887DSG2c.1641A>G (p.Ala547=)
c.1107A>G (p.Ala369=)
 dbSNP
18g.31536419A>TCA503600889DSG2c.1641A>T (p.Ala547=)
c.1107A>T (p.Ala369=)
18g.31536420C>ACA402142246DSG2c.1642C>A (p.Arg548Ser)
c.1108C>A (p.Arg370Ser)
 ClinVar
18g.31536420C=CA2293862008DSG2c.1642C= (p.Arg548=)
c.1108C= (p.Arg370=)
18g.31536420C>GCA402142244DSG2c.1642C>G (p.Arg548Gly)
c.1108C>G (p.Arg370Gly)
 ClinVar dbSNP gnomAD v4
18g.31536420C>TCA043088DSG2c.1642C>T (p.Arg548Cys)
c.1108C>T (p.Arg370Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536420_31536421insCCAAACACACA2812004069DSG2c.1642_1643insCCAAACACA (p.Arg548delinsProLysHisSer)
c.1108_1109insCCAAACACA (p.Arg370delinsProLysHisSer)
18g.31536421G>ACA021510DSG2c.1643G>A (p.Arg548His)
c.1109G>A (p.Arg370His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536421G>CCA402142250DSG2c.1643G>C (p.Arg548Pro)
c.1109G>C (p.Arg370Pro)
18g.31536421G=CA2293862009DSG2c.1643G= (p.Arg548=)
c.1109G= (p.Arg370=)
18g.31536421G>TCA043113DSG2c.1643G>T (p.Arg548Leu)
c.1109G>T (p.Arg370Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536422C>ACA503600897DSG2c.1644C>A (p.Arg548=)
c.1110C>A (p.Arg370=)
 dbSNP gnomAD v4
18g.31536422C=CA2293862010DSG2c.1644C= (p.Arg548=)
c.1110C= (p.Arg370=)
18g.31536422C>GCA503600899DSG2c.1644C>G (p.Arg548=)
c.1110C>G (p.Arg370=)
18g.31536422C>TCA503600900DSG2c.1644C>T (p.Arg548=)
c.1110C>T (p.Arg370=)
 COSMIC
18g.31536423C>ACA402142255DSG2c.1645C>A (p.Gln549Lys)
c.1111C>A (p.Gln371Lys)
18g.31536423C>GCA402142257DSG2c.1645C>G (p.Gln549Glu)
c.1111C>G (p.Gln371Glu)
18g.31536423C>TCA402142260DSG2c.1645C>T (p.Gln549Ter)
c.1111C>T (p.Gln371Ter)
18g.31536424A>CCA402142266DSG2c.1646A>C (p.Gln549Pro)
c.1112A>C (p.Gln371Pro)
18g.31536424A>GCA402142267DSG2c.1646A>G (p.Gln549Arg)
c.1112A>G (p.Gln371Arg)
18g.31536424A>TCA402142270DSG2c.1646A>T (p.Gln549Leu)
c.1112A>T (p.Gln371Leu)
18g.31536425A>CCA402142274DSG2c.1647A>C (p.Gln549His)
c.1113A>C (p.Gln371His)
18g.31536425A>GCA503600913DSG2c.1647A>G (p.Gln549=)
c.1113A>G (p.Gln371=)
18g.31536425A>TCA402142276DSG2c.1647A>T (p.Gln549His)
c.1113A>T (p.Gln371His)
18g.31536426G>ACA402142280DSG2c.1648G>A (p.Glu550Lys)
c.1114G>A (p.Glu372Lys)
 ClinVar dbSNP
18g.31536426G>CCA297741694DSG2c.1648G>C (p.Glu550Gln)
c.1114G>C (p.Glu372Gln)
 dbSNP
18g.31536426G=CA2293862011DSG2c.1648G= (p.Glu550=)
c.1114G= (p.Glu372=)
18g.31536426G>TCA402142282DSG2c.1648G>T (p.Glu550Ter)
c.1114G>T (p.Glu372Ter)
18g.31536427A>CCA402142296DSG2c.1649A>C (p.Glu550Ala)
c.1115A>C (p.Glu372Ala)
18g.31536427A>GCA402142298DSG2c.1649A>G (p.Glu550Gly)
c.1115A>G (p.Glu372Gly)
 ClinVar dbSNP gnomAD v4
18g.31536427A>TCA402142285DSG2c.1649A>T (p.Glu550Val)
c.1115A>T (p.Glu372Val)
18g.31536428A>CCA402142302DSG2c.1650A>C (p.Glu550Asp)
c.1116A>C (p.Glu372Asp)
18g.31536428A>GCA503600930DSG2c.1650A>G (p.Glu550=)
c.1116A>G (p.Glu372=)
18g.31536428A>TCA402142304DSG2c.1650A>T (p.Glu550Asp)
c.1116A>T (p.Glu372Asp)
18g.31536429A>CCA402142308DSG2c.1651A>C (p.Ser551Arg)
c.1117A>C (p.Ser373Arg)
18g.31536429A>GCA402142310DSG2c.1651A>G (p.Ser551Gly)
c.1117A>G (p.Ser373Gly)
 ClinVar
18g.31536429A>TCA402142312DSG2c.1651A>T (p.Ser551Cys)
c.1117A>T (p.Ser373Cys)
18g.31536430G>ACA402142314DSG2c.1651+1G>A (n.1651+1G>A)
c.1117+1G>A (n.1117+1G>A)
 gnomAD v4
18g.31536430G>CCA402142317DSG2c.1651+1G>C (n.1651+1G>C)
c.1117+1G>C (n.1117+1G>C)
18g.31536430G>TCA402142318DSG2c.1651+1G>T (n.1651+1G>T)
c.1117+1G>T (n.1117+1G>T)
18g.31536431T>ACA402142320DSG2c.1651+2T>A (n.1651+2T>A)
c.1117+2T>A (n.1117+2T>A)
18g.31536431T>CCA402142323DSG2c.1651+2T>C (n.1651+2T>C)
c.1117+2T>C (n.1117+2T>C)
18g.31536431T>GCA402142325DSG2c.1651+2T>G (n.1651+2T>G)
c.1117+2T>G (n.1117+2T>G)
18g.31536432_31536433insCCAGTGTGCTGCTGCAACAAAGTGAGAAAAAGCTTGGGCA2734855366DSG2c.1651+3_1651+4insCCAGTGTGCTGCTGCAACAAAGTGAGAAAAAGCTTGGG (n.1651+3_1651+4insCCAGTGTGCTGCTGCAACAAAGTGAGAAAAAGCTTGGG)
c.1117+3_1117+4insCCAGTGTGCTGCTGCAACAAAGTGAGAAAAAGCTTGGG (n.1117+3_1117+4insCCAGTGTGCTGCTGCAACAAAGTGAGAAAAAGCTTGGG)
 dbSNP
18g.31536434delCA2812004070DSG2c.1651+5del (n.1651+5del)
c.1117+5del (n.1117+5del)
18g.31536435C>TCA2576480446DSG2c.1651+6C>T (n.1651+6C>T)
c.1117+6C>T (n.1117+6C>T)
 gnomAD v4
18g.31536436A>CCA2812004071DSG2c.1651+7A>C (n.1651+7A>C)
c.1117+7A>C (n.1117+7A>C)
18g.31536442A>GCA2641406718DSG2c.1651+13A>G (n.1651+13A>G)
c.1117+13A>G (n.1117+13A>G)
 gnomAD v4
18g.31536444T>CCA043126DSG2c.1651+15T>C (n.1651+15T>C)
c.1117+15T>C (n.1117+15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536444T=CA2293862012DSG2c.1651+15T= (n.1651+15T=)
c.1117+15T= (n.1117+15T=)
18g.31536448C>ACA2641406719DSG2c.1651+19C>A (n.1651+19C>A)
c.1117+19C>A (n.1117+19C>A)
 gnomAD v4
18g.31536449T>ACA2641406720DSG2c.1651+20T>A (n.1651+20T>A)
c.1117+20T>A (n.1117+20T>A)
 gnomAD v4
18g.31536449T>CCA2641406721DSG2c.1651+20T>C (n.1651+20T>C)
c.1117+20T>C (n.1117+20T>C)
 gnomAD v4
18g.31536450A=CA2293862013DSG2c.1651+21A= (n.1651+21A=)
c.1117+21A= (n.1117+21A=)
18g.31536450A>CCA043151DSG2c.1651+21A>C (n.1651+21A>C)
c.1117+21A>C (n.1117+21A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31536450A>GCA2293862014DSG2c.1651+21A>G (n.1651+21A>G)
c.1117+21A>G (n.1117+21A>G)
 dbSNP gnomAD v4
18g.31536450A>TCA043165DSG2c.1651+21A>T (n.1651+21A>T)
c.1117+21A>T (n.1117+21A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536451C>ACA2641406722DSG2c.1651+22C>A (n.1651+22C>A)
c.1117+22C>A (n.1117+22C>A)
 gnomAD v4
18g.31536451C>TCA2641406723DSG2c.1651+22C>T (n.1651+22C>T)
c.1117+22C>T (n.1117+22C>T)
 gnomAD v4
18g.31536452A=CA2293862015DSG2c.1651+23A= (n.1651+23A=)
c.1117+23A= (n.1117+23A=)
18g.31536452A>GCA043187DSG2c.1651+23A>G (n.1651+23A>G)
c.1117+23A>G (n.1117+23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536457A=CA2293862016DSG2c.1651+28A= (n.1651+28A=)
c.1117+28A= (n.1117+28A=)
18g.31536457A>GCA043205DSG2c.1651+28A>G (n.1651+28A>G)
c.1117+28A>G (n.1117+28A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536459T>GCA629453668DSG2c.1651+30T>G (n.1651+30T>G)
c.1117+30T>G (n.1117+30T>G)
 dbSNP gnomAD v2
18g.31536459T=CA2293862017DSG2c.1651+30T= (n.1651+30T=)
c.1117+30T= (n.1117+30T=)
18g.31536460C>ACA2641406724DSG2c.1651+31C>A (n.1651+31C>A)
c.1117+31C>A (n.1117+31C>A)
 gnomAD v4
18g.31536461T>CCA2641406725DSG2c.1651+32T>C (n.1651+32T>C)
c.1117+32T>C (n.1117+32T>C)
 gnomAD v4
18g.31536462A=CA2293862018DSG2c.1651+33A= (n.1651+33A=)
c.1117+33A= (n.1117+33A=)
18g.31536462A>GCA629453669DSG2c.1651+33A>G (n.1651+33A>G)
c.1117+33A>G (n.1117+33A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31536464A=CA2293862019DSG2c.1651+35A= (n.1651+35A=)
c.1117+35A= (n.1117+35A=)
18g.31536464A>CCA988925871DSG2c.1651+35A>C (n.1651+35A>C)
c.1117+35A>C (n.1117+35A>C)
 dbSNP gnomAD v3 gnomAD v4
18g.31536467T>CCA988925874DSG2c.1651+38T>C (n.1651+38T>C)
c.1117+38T>C (n.1117+38T>C)
 dbSNP gnomAD v3 gnomAD v4
18g.31536467T=CA2293862020DSG2c.1651+38T= (n.1651+38T=)
c.1117+38T= (n.1117+38T=)
18g.31536468T>ACA2641406726DSG2c.1651+39T>A (n.1651+39T>A)
c.1117+39T>A (n.1117+39T>A)
 gnomAD v4
18g.31536468T>CCA2641406727DSG2c.1651+39T>C (n.1651+39T>C)
c.1117+39T>C (n.1117+39T>C)
 gnomAD v4
18g.31536470delCA2812004072DSG2c.1651+41del (n.1651+41del)
c.1117+41del (n.1117+41del)
18g.31536470A=CA2293862021DSG2c.1651+41A= (n.1651+41A=)
c.1117+41A= (n.1117+41A=)
18g.31536470A>CCA043216DSG2c.1651+41A>C (n.1651+41A>C)
c.1117+41A>C (n.1117+41A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536470A>GCA2641406728DSG2c.1651+41A>G (n.1651+41A>G)
c.1117+41A>G (n.1117+41A>G)
 gnomAD v4
18g.31536471G>ACA043226DSG2c.1651+42G>A (n.1651+42G>A)
c.1117+42G>A (n.1117+42G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31536471G=CA2293862022DSG2c.1651+42G= (n.1651+42G=)
c.1117+42G= (n.1117+42G=)
18g.31536472C>ACA2641406729DSG2c.1651+43C>A (n.1651+43C>A)
c.1117+43C>A (n.1117+43C>A)
 gnomAD v4
18g.31536472C>GCA2576480447DSG2c.1651+43C>G (n.1651+43C>G)
c.1117+43C>G (n.1117+43C>G)
18g.31536473A>GCA2641406730DSG2c.1651+44A>G (n.1651+44A>G)
c.1117+44A>G (n.1117+44A>G)
 gnomAD v4
18g.31536475G>ACA2293862024DSG2c.1651+46G>A (n.1651+46G>A)
c.1117+46G>A (n.1117+46G>A)
 dbSNP
18g.31536475G=CA2293862023DSG2c.1651+46G= (n.1651+46G=)
c.1117+46G= (n.1117+46G=)

Number of alleles fetched