Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.132340571A>CCA360812754MIR3936HG,SLC22A4c.1451A>C (p.Tyr484Ser)
n.561-5645T>G
c.923A>C (p.Tyr308Ser)
c.1175A>C (p.Tyr392Ser)
5g.132340571A>GCA360812757MIR3936HG,SLC22A4c.1451A>G (p.Tyr484Cys)
n.561-5645T>C
c.923A>G (p.Tyr308Cys)
c.1175A>G (p.Tyr392Cys)
5g.132340571A>TCA360812760MIR3936HG,SLC22A4c.1451A>T (p.Tyr484Phe)
n.561-5645T>A
c.923A>T (p.Tyr308Phe)
c.1175A>T (p.Tyr392Phe)
5g.132340572C>ACA360812762MIR3936HG,SLC22A4c.1452C>A (p.Tyr484Ter)
n.561-5646G>T
c.924C>A (p.Tyr308Ter)
c.1176C>A (p.Tyr392Ter)
 gnomAD v4
5g.132340572C>GCA360812765MIR3936HG,SLC22A4c.1452C>G (p.Tyr484Ter)
n.561-5646G>C
c.924C>G (p.Tyr308Ter)
c.1176C>G (p.Tyr392Ter)
5g.132340572C>TCA446339885MIR3936HG,SLC22A4c.1452C>T (p.Tyr484=)
n.561-5646G>A
c.924C>T (p.Tyr308=)
c.1176C>T (p.Tyr392=)
5g.132340572_132340573insCCTTCA2675193386MIR3936HG,SLC22A4c.1452_1453insCCTT (p.Asn485ProfsTer2)
n.561-5647_561-5646insAAGG
c.924_925insCCTT (p.Asn309ProfsTer2)
c.1176_1177insCCTT (p.Asn393ProfsTer2)
 gnomAD v4
5g.132340573A>CCA360812771MIR3936HG,SLC22A4c.1453A>C (p.Asn485His)
n.561-5647T>G
c.925A>C (p.Asn309His)
c.1177A>C (p.Asn393His)
5g.132340573A>GCA360812767MIR3936HG,SLC22A4c.1453A>G (p.Asn485Asp)
n.561-5647T>C
c.925A>G (p.Asn309Asp)
c.1177A>G (p.Asn393Asp)
5g.132340573A>TCA360812766MIR3936HG,SLC22A4c.1453A>T (p.Asn485Tyr)
n.561-5647T>A
c.925A>T (p.Asn309Tyr)
c.1177A>T (p.Asn393Tyr)
5g.132340573_132340574insCCA2675193387MIR3936HG,SLC22A4c.1453_1454insC (p.Asn485ThrfsTer11)
n.561-5648_561-5647insG
c.925_926insC (p.Asn309ThrfsTer11)
c.1177_1178insC (p.Asn393ThrfsTer11)
 gnomAD v4
5g.132340574A>CCA360812776MIR3936HG,SLC22A4c.1454A>C (p.Asn485Thr)
n.561-5648T>G
c.926A>C (p.Asn309Thr)
c.1178A>C (p.Asn393Thr)
5g.132340574A>GCA360812784MIR3936HG,SLC22A4c.1454A>G (p.Asn485Ser)
n.561-5648T>C
c.926A>G (p.Asn309Ser)
c.1178A>G (p.Asn393Ser)
5g.132340574A>TCA360812787MIR3936HG,SLC22A4c.1454A>T (p.Asn485Ile)
n.561-5648T>A
c.926A>T (p.Asn309Ile)
c.1178A>T (p.Asn393Ile)
5g.132340574_132340575insTTCA2675193388MIR3936HG,SLC22A4c.1454_1455insTT (p.Arg486SerfsTer12)
n.561-5649_561-5648insAA
c.926_927insTT (p.Arg310SerfsTer12)
c.1178_1179insTT (p.Arg394SerfsTer12)
 gnomAD v4
5g.132340575C>ACA3403698MIR3936HG,SLC22A4c.1455C>A (p.Asn485Lys)
n.561-5649G>T
c.927C>A (p.Asn309Lys)
c.1179C>A (p.Asn393Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132340575C=CA1583125005MIR3936HG,SLC22A4c.1455C= (p.Asn485=)
n.561-5649G=
c.927C= (p.Asn309=)
c.1179C= (p.Asn393=)
5g.132340575C>GCA360812795MIR3936HG,SLC22A4c.1455C>G (p.Asn485Lys)
n.561-5649G>C
c.927C>G (p.Asn309Lys)
c.1179C>G (p.Asn393Lys)
 gnomAD v4
5g.132340575C>TCA446339907MIR3936HG,SLC22A4c.1455C>T (p.Asn485=)
n.561-5649G>A
c.927C>T (p.Asn309=)
c.1179C>T (p.Asn393=)
 gnomAD v4
5g.132340576A>CCA446339916MIR3936HG,SLC22A4c.1456A>C (p.Arg486=)
n.561-5650T>G
c.928A>C (p.Arg310=)
c.1180A>C (p.Arg394=)
5g.132340576A>GCA360812798MIR3936HG,SLC22A4c.1456A>G (p.Arg486Gly)
n.561-5650T>C
c.928A>G (p.Arg310Gly)
c.1180A>G (p.Arg394Gly)
5g.132340576A>TCA360812803MIR3936HG,SLC22A4c.1456A>T (p.Arg486Ter)
n.561-5650T>A
c.928A>T (p.Arg310Ter)
c.1180A>T (p.Arg394Ter)
5g.132340577G>ACA360812807MIR3936HG,SLC22A4c.1457G>A (p.Arg486Lys)
n.561-5651C>T
c.929G>A (p.Arg310Lys)
c.1181G>A (p.Arg394Lys)
5g.132340577G>CCA360812809MIR3936HG,SLC22A4c.1457G>C (p.Arg486Thr)
n.561-5651C>G
c.929G>C (p.Arg310Thr)
c.1181G>C (p.Arg394Thr)
 gnomAD v4
5g.132340577G>TCA360812811MIR3936HG,SLC22A4c.1457G>T (p.Arg486Ile)
n.561-5651C>A
c.929G>T (p.Arg310Ile)
c.1181G>T (p.Arg394Ile)
5g.132340578A=CA1583125006MIR3936HG,SLC22A4c.1458A= (p.Arg486=)
n.561-5652T=
c.930A= (p.Arg310=)
c.1182A= (p.Arg394=)
5g.132340578A>CCA360812814MIR3936HG,SLC22A4c.1458A>C (p.Arg486Ser)
n.561-5652T>G
c.930A>C (p.Arg310Ser)
c.1182A>C (p.Arg394Ser)
 gnomAD v4
5g.132340578A>GCA446339921MIR3936HG,SLC22A4c.1458A>G (p.Arg486=)
n.561-5652T>C
c.930A>G (p.Arg310=)
c.1182A>G (p.Arg394=)
 dbSNP
5g.132340578A>TCA360812817MIR3936HG,SLC22A4c.1458A>T (p.Arg486Ser)
n.561-5652T>A
c.930A>T (p.Arg310Ser)
c.1182A>T (p.Arg394Ser)
5g.132340579A>CCA360812822MIR3936HG,SLC22A4c.1459A>C (p.Met487Leu)
n.561-5653T>G
c.931A>C (p.Met311Leu)
c.1183A>C (p.Met395Leu)
5g.132340579A>GCA360812825MIR3936HG,SLC22A4c.1459A>G (p.Met487Val)
n.561-5653T>C
c.931A>G (p.Met311Val)
c.1183A>G (p.Met395Val)
5g.132340579A>TCA360812821MIR3936HG,SLC22A4c.1459A>T (p.Met487Leu)
n.561-5653T>A
c.931A>T (p.Met311Leu)
c.1183A>T (p.Met395Leu)
5g.132340580T>ACA360812828MIR3936HG,SLC22A4c.1460T>A (p.Met487Lys)
n.561-5654A>T
c.932T>A (p.Met311Lys)
c.1184T>A (p.Met395Lys)
5g.132340580T>CCA3403699MIR3936HG,SLC22A4c.1460T>C (p.Met487Thr)
n.561-5654A>G
c.932T>C (p.Met311Thr)
c.1184T>C (p.Met395Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340580T>GCA360812827MIR3936HG,SLC22A4c.1460T>G (p.Met487Arg)
n.561-5654A>C
c.932T>G (p.Met311Arg)
c.1184T>G (p.Met395Arg)
5g.132340580T=CA1583125007MIR3936HG,SLC22A4c.1460T= (p.Met487=)
n.561-5654A=
c.932T= (p.Met311=)
c.1184T= (p.Met395=)
5g.132340581G>ACA360812830MIR3936HG,SLC22A4c.1461G>A (p.Met487Ile)
n.561-5655C>T
c.933G>A (p.Met311Ile)
c.1185G>A (p.Met395Ile)
5g.132340581G>CCA360812833MIR3936HG,SLC22A4c.1461G>C (p.Met487Ile)
n.561-5655C>G
c.933G>C (p.Met311Ile)
c.1185G>C (p.Met395Ile)
5g.132340581G>TCA360812835MIR3936HG,SLC22A4c.1461G>T (p.Met487Ile)
n.561-5655C>A
c.933G>T (p.Met311Ile)
c.1185G>T (p.Met395Ile)
5g.132340582C>ACA360812837MIR3936HG,SLC22A4c.1462C>A (p.Leu488Met)
n.561-5656G>T
c.934C>A (p.Leu312Met)
c.1186C>A (p.Leu396Met)
5g.132340582C>GCA360812851MIR3936HG,SLC22A4c.1462C>G (p.Leu488Val)
n.561-5656G>C
c.934C>G (p.Leu312Val)
c.1186C>G (p.Leu396Val)
 gnomAD v4
5g.132340582C>TCA446339948MIR3936HG,SLC22A4c.1462C>T (p.Leu488=)
n.561-5656G>A
c.934C>T (p.Leu312=)
c.1186C>T (p.Leu396=)
5g.132340583T>ACA360812855MIR3936HG,SLC22A4c.1463T>A (p.Leu488Gln)
n.561-5657A>T
c.935T>A (p.Leu312Gln)
c.1187T>A (p.Leu396Gln)
5g.132340583T>CCA360812859MIR3936HG,SLC22A4c.1463T>C (p.Leu488Pro)
n.561-5657A>G
c.935T>C (p.Leu312Pro)
c.1187T>C (p.Leu396Pro)
 dbSNP gnomAD v4
5g.132340583T>GCA360812862MIR3936HG,SLC22A4c.1463T>G (p.Leu488Arg)
n.561-5657A>C
c.935T>G (p.Leu312Arg)
c.1187T>G (p.Leu396Arg)
5g.132340583T=CA1583125008MIR3936HG,SLC22A4c.1463T= (p.Leu488=)
n.561-5657A=
c.935T= (p.Leu312=)
c.1187T= (p.Leu396=)
5g.132340584G>ACA446339954MIR3936HG,SLC22A4c.1464G>A (p.Leu488=)
n.561-5658C>T
c.936G>A (p.Leu312=)
c.1188G>A (p.Leu396=)
 dbSNP gnomAD v4
5g.132340584G>CCA446339955MIR3936HG,SLC22A4c.1464G>C (p.Leu488=)
n.561-5658C>G
c.936G>C (p.Leu312=)
c.1188G>C (p.Leu396=)
5g.132340584G=CA1583125009MIR3936HG,SLC22A4c.1464G= (p.Leu488=)
n.561-5658C=
c.936G= (p.Leu312=)
c.1188G= (p.Leu396=)
5g.132340584G>TCA446339956MIR3936HG,SLC22A4c.1464G>T (p.Leu488=)
n.561-5658C>A
c.936G>T (p.Leu312=)
c.1188G>T (p.Leu396=)
5g.132340585C>ACA360812866MIR3936HG,SLC22A4c.1465C>A (p.Pro489Thr)
n.561-5659G>T
c.937C>A (p.Pro313Thr)
c.1189C>A (p.Pro397Thr)
5g.132340585C>GCA360812867MIR3936HG,SLC22A4c.1465C>G (p.Pro489Ala)
n.561-5659G>C
c.937C>G (p.Pro313Ala)
c.1189C>G (p.Pro397Ala)
5g.132340585C>TCA360812870MIR3936HG,SLC22A4c.1465C>T (p.Pro489Ser)
n.561-5659G>A
c.937C>T (p.Pro313Ser)
c.1189C>T (p.Pro397Ser)
 gnomAD v4
5g.132340586C>ACA360812875MIR3936HG,SLC22A4c.1466C>A (p.Pro489His)
n.561-5660G>T
c.938C>A (p.Pro313His)
c.1190C>A (p.Pro397His)
5g.132340586C>GCA360812879MIR3936HG,SLC22A4c.1466C>G (p.Pro489Arg)
n.561-5660G>C
c.938C>G (p.Pro313Arg)
c.1190C>G (p.Pro397Arg)
5g.132340586C>TCA360812878MIR3936HG,SLC22A4c.1466C>T (p.Pro489Leu)
n.561-5660G>A
c.938C>T (p.Pro313Leu)
c.1190C>T (p.Pro397Leu)
5g.132340587C>ACA446339970MIR3936HG,SLC22A4c.1467C>A (p.Pro489=)
n.561-5661G>T
c.939C>A (p.Pro313=)
c.1191C>A (p.Pro397=)
 dbSNP gnomAD v2 gnomAD v4
5g.132340587C=CA1583125010MIR3936HG,SLC22A4c.1467C= (p.Pro489=)
n.561-5661G=
c.939C= (p.Pro313=)
c.1191C= (p.Pro397=)
5g.132340587C>GCA446339972MIR3936HG,SLC22A4c.1467C>G (p.Pro489=)
n.561-5661G>C
c.939C>G (p.Pro313=)
c.1191C>G (p.Pro397=)
 dbSNP gnomAD v2 gnomAD v4
5g.132340587C>TCA446339971MIR3936HG,SLC22A4c.1467C>T (p.Pro489=)
n.561-5661G>A
c.939C>T (p.Pro313=)
c.1191C>T (p.Pro397=)
5g.132340588T>ACA360812882MIR3936HG,SLC22A4c.1468T>A (p.Tyr490Asn)
n.561-5662A>T
c.940T>A (p.Tyr314Asn)
c.1192T>A (p.Tyr398Asn)
5g.132340588T>CCA360812883MIR3936HG,SLC22A4c.1468T>C (p.Tyr490His)
n.561-5662A>G
c.940T>C (p.Tyr314His)
c.1192T>C (p.Tyr398His)
5g.132340588T>GCA360812884MIR3936HG,SLC22A4c.1468T>G (p.Tyr490Asp)
n.561-5662A>C
c.940T>G (p.Tyr314Asp)
c.1192T>G (p.Tyr398Asp)
5g.132340589A>CCA360812888MIR3936HG,SLC22A4c.1469A>C (p.Tyr490Ser)
n.561-5663T>G
c.941A>C (p.Tyr314Ser)
c.1193A>C (p.Tyr398Ser)
5g.132340589A>GCA360812889MIR3936HG,SLC22A4c.1469A>G (p.Tyr490Cys)
n.561-5663T>C
c.941A>G (p.Tyr314Cys)
c.1193A>G (p.Tyr398Cys)
 gnomAD v4
5g.132340589A>TCA360812903MIR3936HG,SLC22A4c.1469A>T (p.Tyr490Phe)
n.561-5663T>A
c.941A>T (p.Tyr314Phe)
c.1193A>T (p.Tyr398Phe)
5g.132340590C>ACA360812904MIR3936HG,SLC22A4c.1470C>A (p.Tyr490Ter)
n.561-5664G>T
c.942C>A (p.Tyr314Ter)
c.1194C>A (p.Tyr398Ter)
5g.132340590C>GCA360812906MIR3936HG,SLC22A4c.1470C>G (p.Tyr490Ter)
n.561-5664G>C
c.942C>G (p.Tyr314Ter)
c.1194C>G (p.Tyr398Ter)
5g.132340590C>TCA446339993MIR3936HG,SLC22A4c.1470C>T (p.Tyr490=)
n.561-5664G>A
c.942C>T (p.Tyr314=)
c.1194C>T (p.Tyr398=)
 gnomAD v4
5g.132340591A=CA1583125011MIR3936HG,SLC22A4c.1471A= (p.Ile491=)
n.561-5665T=
c.943A= (p.Ile315=)
c.1195A= (p.Ile399=)
5g.132340591A>CCA360812908MIR3936HG,SLC22A4c.1471A>C (p.Ile491Leu)
n.561-5665T>G
c.943A>C (p.Ile315Leu)
c.1195A>C (p.Ile399Leu)
5g.132340591A>GCA3403700MIR3936HG,SLC22A4c.1471A>G (p.Ile491Val)
n.561-5665T>C
c.943A>G (p.Ile315Val)
c.1195A>G (p.Ile399Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340591A>TCA360812911MIR3936HG,SLC22A4c.1471A>T (p.Ile491Phe)
n.561-5665T>A
c.943A>T (p.Ile315Phe)
c.1195A>T (p.Ile399Phe)
5g.132340592T>ACA360812913MIR3936HG,SLC22A4c.1472T>A (p.Ile491Asn)
n.561-5666A>T
c.944T>A (p.Ile315Asn)
c.1196T>A (p.Ile399Asn)
5g.132340592T>CCA360812915MIR3936HG,SLC22A4c.1472T>C (p.Ile491Thr)
n.561-5666A>G
c.944T>C (p.Ile315Thr)
c.1196T>C (p.Ile399Thr)
5g.132340592T>GCA360812912MIR3936HG,SLC22A4c.1472T>G (p.Ile491Ser)
n.561-5666A>C
c.944T>G (p.Ile315Ser)
c.1196T>G (p.Ile399Ser)
5g.132340593C>ACA446340008MIR3936HG,SLC22A4c.1473C>A (p.Ile491=)
n.561-5667G>T
c.945C>A (p.Ile315=)
c.1197C>A (p.Ile399=)
5g.132340593C=CA1583125012MIR3936HG,SLC22A4c.1473C= (p.Ile491=)
n.561-5667G=
c.945C= (p.Ile315=)
c.1197C= (p.Ile399=)
5g.132340593C>GCA360812917MIR3936HG,SLC22A4c.1473C>G (p.Ile491Met)
n.561-5667G>C
c.945C>G (p.Ile315Met)
c.1197C>G (p.Ile399Met)
5g.132340593C>TCA3403701MIR3936HG,SLC22A4c.1473C>T (p.Ile491=)
n.561-5667G>A
c.945C>T (p.Ile315=)
c.1197C>T (p.Ile399=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340594G>ACA3403702MIR3936HG,SLC22A4c.1474G>A (p.Val492Ile)
n.561-5668C>T
c.946G>A (p.Val316Ile)
c.1198G>A (p.Val400Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340594G>CCA360812924MIR3936HG,SLC22A4c.1474G>C (p.Val492Leu)
n.561-5668C>G
c.946G>C (p.Val316Leu)
c.1198G>C (p.Val400Leu)
5g.132340594G=CA1583125013MIR3936HG,SLC22A4c.1474G= (p.Val492=)
n.561-5668C=
c.946G= (p.Val316=)
c.1198G= (p.Val400=)
5g.132340594G>TCA360812928MIR3936HG,SLC22A4c.1474G>T (p.Val492Phe)
n.561-5668C>A
c.946G>T (p.Val316Phe)
c.1198G>T (p.Val400Phe)
5g.132340595T>ACA3403703MIR3936HG,SLC22A4c.1475T>A (p.Val492Asp)
n.561-5669A>T
c.947T>A (p.Val316Asp)
c.1199T>A (p.Val400Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132340595T>CCA360812931MIR3936HG,SLC22A4c.1475T>C (p.Val492Ala)
n.561-5669A>G
c.947T>C (p.Val316Ala)
c.1199T>C (p.Val400Ala)
5g.132340595T>GCA360812933MIR3936HG,SLC22A4c.1475T>G (p.Val492Gly)
n.561-5669A>C
c.947T>G (p.Val316Gly)
c.1199T>G (p.Val400Gly)
5g.132340595T=CA1583125014MIR3936HG,SLC22A4c.1475T= (p.Val492=)
n.561-5669A=
c.947T= (p.Val316=)
c.1199T= (p.Val400=)
5g.132340596C>ACA446340026MIR3936HG,SLC22A4c.1476C>A (p.Val492=)
n.561-5670G>T
c.948C>A (p.Val316=)
c.1200C>A (p.Val400=)
 dbSNP gnomAD v4
5g.132340596C=CA1583125015MIR3936HG,SLC22A4c.1476C= (p.Val492=)
n.561-5670G=
c.948C= (p.Val316=)
c.1200C= (p.Val400=)
5g.132340596C>GCA446340028MIR3936HG,SLC22A4c.1476C>G (p.Val492=)
n.561-5670G>C
c.948C>G (p.Val316=)
c.1200C>G (p.Val400=)
5g.132340596C>TCA3403704MIR3936HG,SLC22A4c.1476C>T (p.Val492=)
n.561-5670G>A
c.948C>T (p.Val316=)
c.1200C>T (p.Val400=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340597A=CA1583125016MIR3936HG,SLC22A4c.1477A= (p.Met493=)
n.561-5671T=
c.949A= (p.Met317=)
c.1201A= (p.Met401=)
5g.132340597A>CCA360812942MIR3936HG,SLC22A4c.1477A>C (p.Met493Leu)
n.561-5671T>G
c.949A>C (p.Met317Leu)
c.1201A>C (p.Met401Leu)
5g.132340597A>GCA360812945MIR3936HG,SLC22A4c.1477A>G (p.Met493Val)
n.561-5671T>C
c.949A>G (p.Met317Val)
c.1201A>G (p.Met401Val)
5g.132340597A>TCA360812949MIR3936HG,SLC22A4c.1477A>T (p.Met493Leu)
n.561-5671T>A
c.949A>T (p.Met317Leu)
c.1201A>T (p.Met401Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.132340598T>ACA360812951MIR3936HG,SLC22A4c.1478T>A (p.Met493Lys)
n.561-5672A>T
c.950T>A (p.Met317Lys)
c.1202T>A (p.Met401Lys)
5g.132340598T>CCA3403705MIR3936HG,SLC22A4c.1478T>C (p.Met493Thr)
n.561-5672A>G
c.950T>C (p.Met317Thr)
c.1202T>C (p.Met401Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340598T>GCA360812950MIR3936HG,SLC22A4c.1478T>G (p.Met493Arg)
n.561-5672A>C
c.950T>G (p.Met317Arg)
c.1202T>G (p.Met401Arg)
5g.132340598T=CA1583125017MIR3936HG,SLC22A4c.1478T= (p.Met493=)
n.561-5672A=
c.950T= (p.Met317=)
c.1202T= (p.Met401=)
5g.132340599G>ACA360812954MIR3936HG,SLC22A4c.1479G>A (p.Met493Ile)
n.561-5673C>T
c.951G>A (p.Met317Ile)
c.1203G>A (p.Met401Ile)
5g.132340599G>CCA360812957MIR3936HG,SLC22A4c.1479G>C (p.Met493Ile)
n.561-5673C>G
c.951G>C (p.Met317Ile)
c.1203G>C (p.Met401Ile)
 gnomAD v4
5g.132340599G>TCA360812958MIR3936HG,SLC22A4c.1479G>T (p.Met493Ile)
n.561-5673C>A
c.951G>T (p.Met317Ile)
c.1203G>T (p.Met401Ile)
5g.132340600G>ACA360812964MIR3936HG,SLC22A4c.1480G>A (p.Gly494Ser)
n.561-5674C>T
c.952G>A (p.Gly318Ser)
c.1204G>A (p.Gly402Ser)
 dbSNP
5g.132340600G>CCA360812965MIR3936HG,SLC22A4c.1480G>C (p.Gly494Arg)
n.561-5674C>G
c.952G>C (p.Gly318Arg)
c.1204G>C (p.Gly402Arg)
5g.132340600G=CA1583125018MIR3936HG,SLC22A4c.1480G= (p.Gly494=)
n.561-5674C=
c.952G= (p.Gly318=)
c.1204G= (p.Gly402=)
5g.132340600G>TCA360812968MIR3936HG,SLC22A4c.1480G>T (p.Gly494Cys)
n.561-5674C>A
c.952G>T (p.Gly318Cys)
c.1204G>T (p.Gly402Cys)
5g.132340601G>ACA360812981MIR3936HG,SLC22A4c.1481G>A (p.Gly494Asp)
n.561-5675C>T
c.953G>A (p.Gly318Asp)
c.1205G>A (p.Gly402Asp)
5g.132340601G>CCA360812972MIR3936HG,SLC22A4c.1481G>C (p.Gly494Ala)
n.561-5675C>G
c.953G>C (p.Gly318Ala)
c.1205G>C (p.Gly402Ala)
 dbSNP
5g.132340601G=CA1583125019MIR3936HG,SLC22A4c.1481G= (p.Gly494=)
n.561-5675C=
c.953G= (p.Gly318=)
c.1205G= (p.Gly402=)
5g.132340601G>TCA360812978MIR3936HG,SLC22A4c.1481G>T (p.Gly494Val)
n.561-5675C>A
c.953G>T (p.Gly318Val)
c.1205G>T (p.Gly402Val)
 gnomAD v4
5g.132340602T>ACA446340075MIR3936HG,SLC22A4c.1482T>A (p.Gly494=)
n.561-5676A>T
c.954T>A (p.Gly318=)
c.1206T>A (p.Gly402=)
5g.132340602T>CCA446340078MIR3936HG,SLC22A4c.1482T>C (p.Gly494=)
n.561-5676A>G
c.954T>C (p.Gly318=)
c.1206T>C (p.Gly402=)
 gnomAD v4
5g.132340602T>GCA446340082MIR3936HG,SLC22A4c.1482T>G (p.Gly494=)
n.561-5676A>C
c.954T>G (p.Gly318=)
c.1206T>G (p.Gly402=)
 dbSNP gnomAD v3 gnomAD v4
5g.132340602T=CA1583125020MIR3936HG,SLC22A4c.1482T= (p.Gly494=)
n.561-5676A=
c.954T= (p.Gly318=)
c.1206T= (p.Gly402=)
5g.132340603A>CCA360812987MIR3936HG,SLC22A4c.1483A>C (p.Ser495Arg)
n.561-5677T>G
c.955A>C (p.Ser319Arg)
c.1207A>C (p.Ser403Arg)
5g.132340603A>GCA360812988MIR3936HG,SLC22A4c.1483A>G (p.Ser495Gly)
n.561-5677T>C
c.955A>G (p.Ser319Gly)
c.1207A>G (p.Ser403Gly)
5g.132340603A>TCA360812991MIR3936HG,SLC22A4c.1483A>T (p.Ser495Cys)
n.561-5677T>A
c.955A>T (p.Ser319Cys)
c.1207A>T (p.Ser403Cys)
5g.132340604G>ACA360812993MIR3936HG,SLC22A4c.1484G>A (p.Ser495Asn)
n.561-5678C>T
c.956G>A (p.Ser319Asn)
c.1208G>A (p.Ser403Asn)
5g.132340604G>CCA360812994MIR3936HG,SLC22A4c.1484G>C (p.Ser495Thr)
n.561-5678C>G
c.956G>C (p.Ser319Thr)
c.1208G>C (p.Ser403Thr)
5g.132340604G>TCA360812995MIR3936HG,SLC22A4c.1484G>T (p.Ser495Ile)
n.561-5678C>A
c.956G>T (p.Ser319Ile)
c.1208G>T (p.Ser403Ile)
5g.132340605T>ACA360812997MIR3936HG,SLC22A4c.1485T>A (p.Ser495Arg)
n.561-5679A>T
c.957T>A (p.Ser319Arg)
c.1209T>A (p.Ser403Arg)
5g.132340605T>CCA446340097MIR3936HG,SLC22A4c.1485T>C (p.Ser495=)
n.561-5679A>G
c.957T>C (p.Ser319=)
c.1209T>C (p.Ser403=)
 gnomAD v4
5g.132340605T>GCA360812998MIR3936HG,SLC22A4c.1485T>G (p.Ser495Arg)
n.561-5679A>C
c.957T>G (p.Ser319Arg)
c.1209T>G (p.Ser403Arg)
5g.132340606C>ACA360813002MIR3936HG,SLC22A4c.1486C>A (p.Leu496Met)
n.561-5680G>T
c.958C>A (p.Leu320Met)
c.1210C>A (p.Leu404Met)
5g.132340606C>GCA360813004MIR3936HG,SLC22A4c.1486C>G (p.Leu496Val)
n.561-5680G>C
c.958C>G (p.Leu320Val)
c.1210C>G (p.Leu404Val)
5g.132340606C>TCA446340107MIR3936HG,SLC22A4c.1486C>T (p.Leu496=)
n.561-5680G>A
c.958C>T (p.Leu320=)
c.1210C>T (p.Leu404=)
5g.132340607T>ACA360813007MIR3936HG,SLC22A4c.1487T>A (p.Leu496Gln)
n.561-5681A>T
c.959T>A (p.Leu320Gln)
c.1211T>A (p.Leu404Gln)
5g.132340607T>CCA360813010MIR3936HG,SLC22A4c.1487T>C (p.Leu496Pro)
n.561-5681A>G
c.959T>C (p.Leu320Pro)
c.1211T>C (p.Leu404Pro)
5g.132340607T>GCA360813018MIR3936HG,SLC22A4c.1487T>G (p.Leu496Arg)
n.561-5681A>C
c.959T>G (p.Leu320Arg)
c.1211T>G (p.Leu404Arg)
5g.132340608G>ACA446340129MIR3936HG,SLC22A4c.1488G>A (p.Leu496=)
n.561-5682C>T
c.960G>A (p.Leu320=)
c.1212G>A (p.Leu404=)
5g.132340608G>CCA446340127MIR3936HG,SLC22A4c.1488G>C (p.Leu496=)
n.561-5682C>G
c.960G>C (p.Leu320=)
c.1212G>C (p.Leu404=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132340608G=CA1583125021MIR3936HG,SLC22A4c.1488G= (p.Leu496=)
n.561-5682C=
c.960G= (p.Leu320=)
c.1212G= (p.Leu404=)
5g.132340608G>TCA446340125MIR3936HG,SLC22A4c.1488G>T (p.Leu496=)
n.561-5682C>A
c.960G>T (p.Leu320=)
c.1212G>T (p.Leu404=)
5g.132340609A>CCA360813021MIR3936HG,SLC22A4c.1489A>C (p.Thr497Pro)
n.561-5683T>G
c.961A>C (p.Thr321Pro)
c.1213A>C (p.Thr405Pro)
5g.132340609A>GCA360813024MIR3936HG,SLC22A4c.1489A>G (p.Thr497Ala)
n.561-5683T>C
c.961A>G (p.Thr321Ala)
c.1213A>G (p.Thr405Ala)
5g.132340609A>TCA360813026MIR3936HG,SLC22A4c.1489A>T (p.Thr497Ser)
n.561-5683T>A
c.961A>T (p.Thr321Ser)
c.1213A>T (p.Thr405Ser)
5g.132340610C>ACA360813031MIR3936HG,SLC22A4c.1490C>A (p.Thr497Asn)
n.561-5684G>T
c.962C>A (p.Thr321Asn)
c.1214C>A (p.Thr405Asn)
 dbSNP gnomAD v4
5g.132340610C=CA1583125022MIR3936HG,SLC22A4c.1490C= (p.Thr497=)
n.561-5684G=
c.962C= (p.Thr321=)
c.1214C= (p.Thr405=)
5g.132340610C>GCA360813033MIR3936HG,SLC22A4c.1490C>G (p.Thr497Ser)
n.561-5684G>C
c.962C>G (p.Thr321Ser)
c.1214C>G (p.Thr405Ser)
5g.132340610C>TCA360813037MIR3936HG,SLC22A4c.1490C>T (p.Thr497Ile)
n.561-5684G>A
c.962C>T (p.Thr321Ile)
c.1214C>T (p.Thr405Ile)
5g.132340611delCA2578401905MIR3936HG,SLC22A4c.1491del (p.Val498SerfsTer2)
n.561-5685del
c.963del (p.Val322SerfsTer2)
c.1215del (p.Val406SerfsTer2)
 gnomAD v4
5g.132340611T>ACA446340167MIR3936HG,SLC22A4c.1491T>A (p.Thr497=)
n.561-5685A>T
c.963T>A (p.Thr321=)
c.1215T>A (p.Thr405=)
5g.132340611T>CCA446340164MIR3936HG,SLC22A4c.1491T>C (p.Thr497=)
n.561-5685A>G
c.963T>C (p.Thr321=)
c.1215T>C (p.Thr405=)
5g.132340611T>GCA446340154MIR3936HG,SLC22A4c.1491T>G (p.Thr497=)
n.561-5685A>C
c.963T>G (p.Thr321=)
c.1215T>G (p.Thr405=)
5g.132340612G>ACA3403706MIR3936HG,SLC22A4c.1492G>A (p.Val498Ile)
n.561-5686C>T
c.964G>A (p.Val322Ile)
c.1216G>A (p.Val406Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340612G>CCA360813042MIR3936HG,SLC22A4c.1492G>C (p.Val498Leu)
n.561-5686C>G
c.964G>C (p.Val322Leu)
c.1216G>C (p.Val406Leu)
5g.132340612G=CA1583125023MIR3936HG,SLC22A4c.1492G= (p.Val498=)
n.561-5686C=
c.964G= (p.Val322=)
c.1216G= (p.Val406=)
5g.132340612G>TCA360813045MIR3936HG,SLC22A4c.1492G>T (p.Val498Phe)
n.561-5686C>A
c.964G>T (p.Val322Phe)
c.1216G>T (p.Val406Phe)
5g.132340613T>ACA360813051MIR3936HG,SLC22A4c.1493T>A (p.Val498Asp)
n.561-5687A>T
c.965T>A (p.Val322Asp)
c.1217T>A (p.Val406Asp)
5g.132340613T>CCA3403707MIR3936HG,SLC22A4c.1493T>C (p.Val498Ala)
n.561-5687A>G
c.965T>C (p.Val322Ala)
c.1217T>C (p.Val406Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132340613T>GCA360813050MIR3936HG,SLC22A4c.1493T>G (p.Val498Gly)
n.561-5687A>C
c.965T>G (p.Val322Gly)
c.1217T>G (p.Val406Gly)
5g.132340613T=CA1583125024MIR3936HG,SLC22A4c.1493T= (p.Val498=)
n.561-5687A=
c.965T= (p.Val322=)
c.1217T= (p.Val406=)
5g.132340614C>ACA446340185MIR3936HG,SLC22A4c.1494C>A (p.Val498=)
n.561-5688G>T
c.966C>A (p.Val322=)
c.1218C>A (p.Val406=)
5g.132340614C>GCA446340190MIR3936HG,SLC22A4c.1494C>G (p.Val498=)
n.561-5688G>C
c.966C>G (p.Val322=)
c.1218C>G (p.Val406=)
5g.132340614C>TCA446340188MIR3936HG,SLC22A4c.1494C>T (p.Val498=)
n.561-5688G>A
c.966C>T (p.Val322=)
c.1218C>T (p.Val406=)
5g.132340615C>ACA360813054MIR3936HG,SLC22A4c.1495C>A (p.Leu499Met)
n.561-5689G>T
c.967C>A (p.Leu323Met)
c.1219C>A (p.Leu407Met)
5g.132340615C>GCA360813056MIR3936HG,SLC22A4c.1495C>G (p.Leu499Val)
n.561-5689G>C
c.967C>G (p.Leu323Val)
c.1219C>G (p.Leu407Val)
5g.132340615C>TCA446340204MIR3936HG,SLC22A4c.1495C>T (p.Leu499=)
n.561-5689G>A
c.967C>T (p.Leu323=)
c.1219C>T (p.Leu407=)
5g.132340616T>ACA360813058MIR3936HG,SLC22A4c.1496T>A (p.Leu499Gln)
n.561-5690A>T
c.968T>A (p.Leu323Gln)
c.1220T>A (p.Leu407Gln)
5g.132340616T>CCA360813060MIR3936HG,SLC22A4c.1496T>C (p.Leu499Pro)
n.561-5690A>G
c.968T>C (p.Leu323Pro)
c.1220T>C (p.Leu407Pro)
5g.132340616T>GCA360813063MIR3936HG,SLC22A4c.1496T>G (p.Leu499Arg)
n.561-5690A>C
c.968T>G (p.Leu323Arg)
c.1220T>G (p.Leu407Arg)
5g.132340617G>ACA446340214MIR3936HG,SLC22A4c.1497G>A (p.Leu499=)
n.561-5691C>T
c.969G>A (p.Leu323=)
c.1221G>A (p.Leu407=)
5g.132340617G>CCA446340215MIR3936HG,SLC22A4c.1497G>C (p.Leu499=)
n.561-5691C>G
c.969G>C (p.Leu323=)
c.1221G>C (p.Leu407=)
 COSMIC
5g.132340617G>TCA446340216MIR3936HG,SLC22A4c.1497G>T (p.Leu499=)
n.561-5691C>A
c.969G>T (p.Leu323=)
c.1221G>T (p.Leu407=)
5g.132340618A>CCA360813066MIR3936HG,SLC22A4c.1498A>C (p.Ile500Leu)
n.561-5692T>G
c.970A>C (p.Ile324Leu)
c.1222A>C (p.Ile408Leu)
5g.132340618A>GCA360813072MIR3936HG,SLC22A4c.1498A>G (p.Ile500Val)
n.561-5692T>C
c.970A>G (p.Ile324Val)
c.1222A>G (p.Ile408Val)
5g.132340618A>TCA360813075MIR3936HG,SLC22A4c.1498A>T (p.Ile500Phe)
n.561-5692T>A
c.970A>T (p.Ile324Phe)
c.1222A>T (p.Ile408Phe)
5g.132340619T>ACA360813080MIR3936HG,SLC22A4c.1499T>A (p.Ile500Asn)
n.561-5693A>T
c.971T>A (p.Ile324Asn)
c.1223T>A (p.Ile408Asn)
 dbSNP gnomAD v2 gnomAD v4
5g.132340619T>CCA360813082MIR3936HG,SLC22A4c.1499T>C (p.Ile500Thr)
n.561-5693A>G
c.971T>C (p.Ile324Thr)
c.1223T>C (p.Ile408Thr)
 gnomAD v4
5g.132340619T>GCA360813085MIR3936HG,SLC22A4c.1499T>G (p.Ile500Ser)
n.561-5693A>C
c.971T>G (p.Ile324Ser)
c.1223T>G (p.Ile408Ser)
5g.132340619T=CA1583125025MIR3936HG,SLC22A4c.1499T= (p.Ile500=)
n.561-5693A=
c.971T= (p.Ile324=)
c.1223T= (p.Ile408=)
5g.132340620T>ACA446340230MIR3936HG,SLC22A4c.1500T>A (p.Ile500=)
n.561-5694A>T
c.972T>A (p.Ile324=)
c.1224T>A (p.Ile408=)
5g.132340620T>CCA3403708MIR3936HG,SLC22A4c.1500T>C (p.Ile500=)
n.561-5694A>G
c.972T>C (p.Ile324=)
c.1224T>C (p.Ile408=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340620T>GCA360813090MIR3936HG,SLC22A4c.1500T>G (p.Ile500Met)
n.561-5694A>C
c.972T>G (p.Ile324Met)
c.1224T>G (p.Ile408Met)
 gnomAD v4
5g.132340620T=CA1583125026MIR3936HG,SLC22A4c.1500T= (p.Ile500=)
n.561-5694A=
c.972T= (p.Ile324=)
c.1224T= (p.Ile408=)
5g.132340621G>ACA360813098MIR3936HG,SLC22A4c.1501G>A (p.Gly501Arg)
n.561-5695C>T
c.973G>A (p.Gly325Arg)
c.1225G>A (p.Gly409Arg)
5g.132340621G>CCA360813097MIR3936HG,SLC22A4c.1501G>C (p.Gly501Arg)
n.561-5695C>G
c.973G>C (p.Gly325Arg)
c.1225G>C (p.Gly409Arg)
5g.132340621G>TCA360813094MIR3936HG,SLC22A4c.1501G>T (p.Gly501Ter)
n.561-5695C>A
c.973G>T (p.Gly325Ter)
c.1225G>T (p.Gly409Ter)
5g.132340622G>ACA360813099MIR3936HG,SLC22A4c.1502G>A (p.Gly501Glu)
n.561-5696C>T
c.974G>A (p.Gly325Glu)
c.1226G>A (p.Gly409Glu)
 COSMIC
5g.132340622G>CCA360813100MIR3936HG,SLC22A4c.1502G>C (p.Gly501Ala)
n.561-5696C>G
c.974G>C (p.Gly325Ala)
c.1226G>C (p.Gly409Ala)
5g.132340622G>TCA360813103MIR3936HG,SLC22A4c.1502G>T (p.Gly501Val)
n.561-5696C>A
c.974G>T (p.Gly325Val)
c.1226G>T (p.Gly409Val)
5g.132340623A>CCA446340258MIR3936HG,SLC22A4c.1503A>C (p.Gly501=)
n.561-5697T>G
c.975A>C (p.Gly325=)
c.1227A>C (p.Gly409=)
 gnomAD v4
5g.132340623A>GCA446340260MIR3936HG,SLC22A4c.1503A>G (p.Gly501=)
n.561-5697T>C
c.975A>G (p.Gly325=)
c.1227A>G (p.Gly409=)
5g.132340623A>TCA446340263MIR3936HG,SLC22A4c.1503A>T (p.Gly501=)
n.561-5697T>A
c.975A>T (p.Gly325=)
c.1227A>T (p.Gly409=)
5g.132340624A>CCA360813107MIR3936HG,SLC22A4c.1504A>C (p.Ile502Leu)
n.561-5698T>G
c.976A>C (p.Ile326Leu)
c.1228A>C (p.Ile410Leu)
5g.132340624A>GCA360813111MIR3936HG,SLC22A4c.1504A>G (p.Ile502Val)
n.561-5698T>C
c.976A>G (p.Ile326Val)
c.1228A>G (p.Ile410Val)
 gnomAD v4
5g.132340624A>TCA360813113MIR3936HG,SLC22A4c.1504A>T (p.Ile502Phe)
n.561-5698T>A
c.976A>T (p.Ile326Phe)
c.1228A>T (p.Ile410Phe)
5g.132340625T>ACA360813130MIR3936HG,SLC22A4c.1505T>A (p.Ile502Asn)
n.561-5699A>T
c.977T>A (p.Ile326Asn)
c.1229T>A (p.Ile410Asn)
 gnomAD v4
5g.132340625T>CCA3403709MIR3936HG,SLC22A4c.1505T>C (p.Ile502Thr)
n.561-5699A>G
c.977T>C (p.Ile326Thr)
c.1229T>C (p.Ile410Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340625T>GCA360813120MIR3936HG,SLC22A4c.1505T>G (p.Ile502Ser)
n.561-5699A>C
c.977T>G (p.Ile326Ser)
c.1229T>G (p.Ile410Ser)
5g.132340625T=CA1583125027MIR3936HG,SLC22A4c.1505T= (p.Ile502=)
n.561-5699A=
c.977T= (p.Ile326=)
c.1229T= (p.Ile410=)
5g.132340626C>ACA3403710MIR3936HG,SLC22A4c.1506C>A (p.Ile502=)
n.561-5700G>T
c.978C>A (p.Ile326=)
c.1230C>A (p.Ile410=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340626C=CA1583125028MIR3936HG,SLC22A4c.1506C= (p.Ile502=)
n.561-5700G=
c.978C= (p.Ile326=)
c.1230C= (p.Ile410=)
5g.132340626C>GCA360813138MIR3936HG,SLC22A4c.1506C>G (p.Ile502Met)
n.561-5700G>C
c.978C>G (p.Ile326Met)
c.1230C>G (p.Ile410Met)
5g.132340626C>TCA446340275MIR3936HG,SLC22A4c.1506C>T (p.Ile502=)
n.561-5700G>A
c.978C>T (p.Ile326=)
c.1230C>T (p.Ile410=)
5g.132340627C>ACA360813144MIR3936HG,SLC22A4c.1507C>A (p.Leu503Ile)
n.561-5701G>T
c.979C>A (p.Leu327Ile)
c.1231C>A (p.Leu411Ile)
5g.132340627C=CA1583125029MIR3936HG,SLC22A4c.1507C= (p.Leu503=)
n.561-5701G=
c.979C= (p.Leu327=)
c.1231C= (p.Leu411=)
5g.132340627C>GCA360813145MIR3936HG,SLC22A4c.1507C>G (p.Leu503Val)
n.561-5701G>C
c.979C>G (p.Leu327Val)
c.1231C>G (p.Leu411Val)
5g.132340627C>TCA117718MIR3936HG,SLC22A4c.1507C>T (p.Leu503Phe)
n.561-5701G>A
c.979C>T (p.Leu327Phe)
c.1231C>T (p.Leu411Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340628T>ACA360813146MIR3936HG,SLC22A4c.1508T>A (p.Leu503His)
n.561-5702A>T
c.980T>A (p.Leu327His)
c.1232T>A (p.Leu411His)
5g.132340628T>CCA360813148MIR3936HG,SLC22A4c.1508T>C (p.Leu503Pro)
n.561-5702A>G
c.980T>C (p.Leu327Pro)
c.1232T>C (p.Leu411Pro)
5g.132340628T>GCA360813147MIR3936HG,SLC22A4c.1508T>G (p.Leu503Arg)
n.561-5702A>C
c.980T>G (p.Leu327Arg)
c.1232T>G (p.Leu411Arg)
5g.132340629C>ACA3403711MIR3936HG,SLC22A4c.1509C>A (p.Leu503=)
n.561-5703G>T
c.981C>A (p.Leu327=)
c.1233C>A (p.Leu411=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.132340629C=CA1583125030MIR3936HG,SLC22A4c.1509C= (p.Leu503=)
n.561-5703G=
c.981C= (p.Leu327=)
c.1233C= (p.Leu411=)
5g.132340629C>GCA446340307MIR3936HG,SLC22A4c.1509C>G (p.Leu503=)
n.561-5703G>C
c.981C>G (p.Leu327=)
c.1233C>G (p.Leu411=)
5g.132340629C>TCA446340315MIR3936HG,SLC22A4c.1509C>T (p.Leu503=)
n.561-5703G>A
c.981C>T (p.Leu327=)
c.1233C>T (p.Leu411=)
 gnomAD v4
5g.132340630A>CCA360813150MIR3936HG,SLC22A4c.1510A>C (p.Thr504Pro)
n.561-5704T>G
c.982A>C (p.Thr328Pro)
c.1234A>C (p.Thr412Pro)
5g.132340630A>GCA360813155MIR3936HG,SLC22A4c.1510A>G (p.Thr504Ala)
n.561-5704T>C
c.982A>G (p.Thr328Ala)
c.1234A>G (p.Thr412Ala)
5g.132340630A>TCA360813159MIR3936HG,SLC22A4c.1510A>T (p.Thr504Ser)
n.561-5704T>A
c.982A>T (p.Thr328Ser)
c.1234A>T (p.Thr412Ser)
5g.132340631C>ACA360813162MIR3936HG,SLC22A4c.1511C>A (p.Thr504Asn)
n.561-5705G>T
c.983C>A (p.Thr328Asn)
c.1235C>A (p.Thr412Asn)
5g.132340631C=CA1583125031MIR3936HG,SLC22A4c.1511C= (p.Thr504=)
n.561-5705G=
c.983C= (p.Thr328=)
c.1235C= (p.Thr412=)
5g.132340631C>GCA360813166MIR3936HG,SLC22A4c.1511C>G (p.Thr504Ser)
n.561-5705G>C
c.983C>G (p.Thr328Ser)
c.1235C>G (p.Thr412Ser)
 gnomAD v4
5g.132340631C>TCA360813172MIR3936HG,SLC22A4c.1511C>T (p.Thr504Ile)
n.561-5705G>A
c.983C>T (p.Thr328Ile)
c.1235C>T (p.Thr412Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.132340632C>ACA446340332MIR3936HG,SLC22A4c.1512C>A (p.Thr504=)
n.561-5706G>T
c.984C>A (p.Thr328=)
c.1236C>A (p.Thr412=)
5g.132340632C>GCA446340335MIR3936HG,SLC22A4c.1512C>G (p.Thr504=)
n.561-5706G>C
c.984C>G (p.Thr328=)
c.1236C>G (p.Thr412=)
 gnomAD v4
5g.132340632C>TCA446340338MIR3936HG,SLC22A4c.1512C>T (p.Thr504=)
n.561-5706G>A
c.984C>T (p.Thr328=)
c.1236C>T (p.Thr412=)
5g.132340633C>ACA360813176MIR3936HG,SLC22A4c.1513C>A (p.Leu505Ile)
n.561-5707G>T
c.985C>A (p.Leu329Ile)
c.1237C>A (p.Leu413Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.132340633C=CA1583125033MIR3936HG,SLC22A4c.1513C= (p.Leu505=)
n.561-5707G=
c.985C= (p.Leu329=)
c.1237C= (p.Leu413=)
5g.132340633C>GCA360813179MIR3936HG,SLC22A4c.1513C>G (p.Leu505Val)
n.561-5707G>C
c.985C>G (p.Leu329Val)
c.1237C>G (p.Leu413Val)
5g.132340633C>TCA360813180MIR3936HG,SLC22A4c.1513C>T (p.Leu505Phe)
n.561-5707G>A
c.985C>T (p.Leu329Phe)
c.1237C>T (p.Leu413Phe)
 gnomAD v4
5g.132340633_132340634delinsCTCA1583125032MIR3936HG,SLC22A4c.1513_1514delinsCT (p.Leu505=)
n.561-5708_561-5707delinsAG
c.985_986delinsCT (p.Leu329=)
c.1237_1238delinsCT (p.Leu413=)
5g.132340634T>ACA360813188MIR3936HG,SLC22A4c.1514T>A (p.Leu505His)
n.561-5708A>T
c.986T>A (p.Leu329His)
c.1238T>A (p.Leu413His)
5g.132340634T>CCA360813189MIR3936HG,SLC22A4c.1514T>C (p.Leu505Pro)
n.561-5708A>G
c.986T>C (p.Leu329Pro)
c.1238T>C (p.Leu413Pro)
 dbSNP gnomAD v3 gnomAD v4
5g.132340634T>GCA360813187MIR3936HG,SLC22A4c.1514T>G (p.Leu505Arg)
n.561-5708A>C
c.986T>G (p.Leu329Arg)
c.1238T>G (p.Leu413Arg)
 gnomAD v4
5g.132340634T=CA1583125034MIR3936HG,SLC22A4c.1514T= (p.Leu505=)
n.561-5708A=
c.986T= (p.Leu329=)
c.1238T= (p.Leu413=)
5g.132340640dupCA3403713MIR3936HG,SLC22A4c.1520dup (p.Glu509Ter)
n.561-5708dup
c.992dup (p.Glu333Ter)
c.1244dup (p.Glu417Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.132340640delCA3403712MIR3936HG,SLC22A4c.1520del (p.Phe507SerfsTer7)
n.561-5708del
c.992del (p.Phe331SerfsTer7)
c.1244del (p.Phe415SerfsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.132340635T>ACA446340363MIR3936HG,SLC22A4c.1515T>A (p.Leu505=)
n.561-5709A>T
c.987T>A (p.Leu329=)
c.1239T>A (p.Leu413=)
5g.132340635T>CCA446340366MIR3936HG,SLC22A4c.1515T>C (p.Leu505=)
n.561-5709A>G
c.987T>C (p.Leu329=)
c.1239T>C (p.Leu413=)
5g.132340635T>GCA446340367MIR3936HG,SLC22A4c.1515T>G (p.Leu505=)
n.561-5709A>C
c.987T>G (p.Leu329=)
c.1239T>G (p.Leu413=)
5g.132340636T>ACA360813193MIR3936HG,SLC22A4c.1516T>A (p.Phe506Ile)
n.561-5710A>T
c.988T>A (p.Phe330Ile)
c.1240T>A (p.Phe414Ile)
5g.132340636T>CCA360813196MIR3936HG,SLC22A4c.1516T>C (p.Phe506Leu)
n.561-5710A>G
c.988T>C (p.Phe330Leu)
c.1240T>C (p.Phe414Leu)
5g.132340636T>GCA360813198MIR3936HG,SLC22A4c.1516T>G (p.Phe506Val)
n.561-5710A>C
c.988T>G (p.Phe330Val)
c.1240T>G (p.Phe414Val)
5g.132340637T>ACA360813200MIR3936HG,SLC22A4c.1517T>A (p.Phe506Tyr)
n.561-5711A>T
c.989T>A (p.Phe330Tyr)
c.1241T>A (p.Phe414Tyr)
5g.132340637T>CCA360813201MIR3936HG,SLC22A4c.1517T>C (p.Phe506Ser)
n.561-5711A>G
c.989T>C (p.Phe330Ser)
c.1241T>C (p.Phe414Ser)
5g.132340637T>GCA360813206MIR3936HG,SLC22A4c.1517T>G (p.Phe506Cys)
n.561-5711A>C
c.989T>G (p.Phe330Cys)
c.1241T>G (p.Phe414Cys)
5g.132340638T>ACA360813207MIR3936HG,SLC22A4c.1518T>A (p.Phe506Leu)
n.561-5712A>T
c.990T>A (p.Phe330Leu)
c.1242T>A (p.Phe414Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.132340638T>CCA446340387MIR3936HG,SLC22A4c.1518T>C (p.Phe506=)
n.561-5712A>G
c.990T>C (p.Phe330=)
c.1242T>C (p.Phe414=)
 dbSNP gnomAD v2 gnomAD v4
5g.132340638T>GCA360813208MIR3936HG,SLC22A4c.1518T>G (p.Phe506Leu)
n.561-5712A>C
c.990T>G (p.Phe330Leu)
c.1242T>G (p.Phe414Leu)
5g.132340638T=CA1583125035MIR3936HG,SLC22A4c.1518T= (p.Phe506=)
n.561-5712A=
c.990T= (p.Phe330=)
c.1242T= (p.Phe414=)
5g.132340639T>ACA360813210MIR3936HG,SLC22A4c.1519T>A (p.Phe507Ile)
n.561-5713A>T
c.991T>A (p.Phe331Ile)
c.1243T>A (p.Phe415Ile)
5g.132340639T>CCA360813212MIR3936HG,SLC22A4c.1519T>C (p.Phe507Leu)
n.561-5713A>G
c.991T>C (p.Phe331Leu)
c.1243T>C (p.Phe415Leu)
 gnomAD v4
5g.132340639T>GCA360813215MIR3936HG,SLC22A4c.1519T>G (p.Phe507Val)
n.561-5713A>C
c.991T>G (p.Phe331Val)
c.1243T>G (p.Phe415Val)
5g.132340640T>ACA360813219MIR3936HG,SLC22A4c.1520T>A (p.Phe507Tyr)
n.561-5714A>T
c.992T>A (p.Phe331Tyr)
c.1244T>A (p.Phe415Tyr)
5g.132340640T>CCA3403714MIR3936HG,SLC22A4c.1520T>C (p.Phe507Ser)
n.561-5714A>G
c.992T>C (p.Phe331Ser)
c.1244T>C (p.Phe415Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132340640T>GCA360813221MIR3936HG,SLC22A4c.1520T>G (p.Phe507Cys)
n.561-5714A>C
c.992T>G (p.Phe331Cys)
c.1244T>G (p.Phe415Cys)
5g.132340640T=CA1583125036MIR3936HG,SLC22A4c.1520T= (p.Phe507=)
n.561-5714A=
c.992T= (p.Phe331=)
c.1244T= (p.Phe415=)
5g.132340641C>ACA360813225MIR3936HG,SLC22A4c.1521C>A (p.Phe507Leu)
n.561-5715G>T
c.993C>A (p.Phe331Leu)
c.1245C>A (p.Phe415Leu)
5g.132340641C>GCA360813226MIR3936HG,SLC22A4c.1521C>G (p.Phe507Leu)
n.561-5715G>C
c.993C>G (p.Phe331Leu)
c.1245C>G (p.Phe415Leu)
5g.132340641C>TCA446340408MIR3936HG,SLC22A4c.1521C>T (p.Phe507=)
n.561-5715G>A
c.993C>T (p.Phe331=)
c.1245C>T (p.Phe415=)
5g.132340643dupCA2768422476MIR3936HG,SLC22A4c.1523dup (p.Glu509Ter)
n.561-5715dup
c.995dup (p.Glu333Ter)
c.1247dup (p.Glu417Ter)
5g.132340643delCA2675193389MIR3936HG,SLC22A4c.1523del (p.Pro508LeufsTer6)
n.561-5715del
c.995del (p.Pro332LeufsTer6)
c.1247del (p.Pro416LeufsTer6)
 gnomAD v4
5g.132340641_132340649delCA2768422477MIR3936HG,SLC22A4c.1521_1529del (p.Pro508_Ser510del)
n.561-5723_561-5715del
c.993_1001del (p.Pro332_Ser334del)
c.1245_1253del (p.Pro416_Ser418del)
5g.132340642C>ACA360813228MIR3936HG,SLC22A4c.1522C>A (p.Pro508Thr)
n.561-5716G>T
c.994C>A (p.Pro332Thr)
c.1246C>A (p.Pro416Thr)
5g.132340642C=CA1583125037MIR3936HG,SLC22A4c.1522C= (p.Pro508=)
n.561-5716G=
c.994C= (p.Pro332=)
c.1246C= (p.Pro416=)
5g.132340642C>GCA360813230MIR3936HG,SLC22A4c.1522C>G (p.Pro508Ala)
n.561-5716G>C
c.994C>G (p.Pro332Ala)
c.1246C>G (p.Pro416Ala)
5g.132340642C>TCA360813231MIR3936HG,SLC22A4c.1522C>T (p.Pro508Ser)
n.561-5716G>A
c.994C>T (p.Pro332Ser)
c.1246C>T (p.Pro416Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.132340643C>ACA360813232MIR3936HG,SLC22A4c.1523C>A (p.Pro508His)
n.561-5717G>T
c.995C>A (p.Pro332His)
c.1247C>A (p.Pro416His)
 gnomAD v4
5g.132340643C>GCA360813237MIR3936HG,SLC22A4c.1523C>G (p.Pro508Arg)
n.561-5717G>C
c.995C>G (p.Pro332Arg)
c.1247C>G (p.Pro416Arg)
5g.132340643C>TCA360813241MIR3936HG,SLC22A4c.1523C>T (p.Pro508Leu)
n.561-5717G>A
c.995C>T (p.Pro332Leu)
c.1247C>T (p.Pro416Leu)
5g.132340644delCA2675193390MIR3936HG,SLC22A4c.1524del (p.Glu509LysfsTer5)
n.561-5718del
c.996del (p.Glu333LysfsTer5)
c.1248del (p.Glu417LysfsTer5)
 gnomAD v4
5g.132340644T>ACA446340417MIR3936HG,SLC22A4c.1524T>A (p.Pro508=)
n.561-5718A>T
c.996T>A (p.Pro332=)
c.1248T>A (p.Pro416=)
5g.132340644T>CCA446340428MIR3936HG,SLC22A4c.1524T>C (p.Pro508=)
n.561-5718A>G
c.996T>C (p.Pro332=)
c.1248T>C (p.Pro416=)
5g.132340644T>GCA446340431MIR3936HG,SLC22A4c.1524T>G (p.Pro508=)
n.561-5718A>C
c.996T>G (p.Pro332=)
c.1248T>G (p.Pro416=)
5g.132340645delCA2578401906MIR3936HG,SLC22A4c.1525del (p.Glu509LysfsTer5)
n.561-5719del
c.997del (p.Glu333LysfsTer5)
c.1249del (p.Glu417LysfsTer5)
5g.132340645G>ACA360813244MIR3936HG,SLC22A4c.1525G>A (p.Glu509Lys)
n.561-5719C>T
c.997G>A (p.Glu333Lys)
c.1249G>A (p.Glu417Lys)
5g.132340645G>CCA360813247MIR3936HG,SLC22A4c.1525G>C (p.Glu509Gln)
n.561-5719C>G
c.997G>C (p.Glu333Gln)
c.1249G>C (p.Glu417Gln)
 gnomAD v4
5g.132340645G>TCA360813250MIR3936HG,SLC22A4c.1525G>T (p.Glu509Ter)
n.561-5719C>A
c.997G>T (p.Glu333Ter)
c.1249G>T (p.Glu417Ter)
5g.132340646A=CA1583125038MIR3936HG,SLC22A4c.1526A= (p.Glu509=)
n.561-5720T=
c.998A= (p.Glu333=)
c.1250A= (p.Glu417=)
5g.132340646A>CCA360813253MIR3936HG,SLC22A4c.1526A>C (p.Glu509Ala)
n.561-5720T>G
c.998A>C (p.Glu333Ala)
c.1250A>C (p.Glu417Ala)
5g.132340646A>GCA360813261MIR3936HG,SLC22A4c.1526A>G (p.Glu509Gly)
n.561-5720T>C
c.998A>G (p.Glu333Gly)
c.1250A>G (p.Glu417Gly)
5g.132340646A>TCA3403715MIR3936HG,SLC22A4c.1526A>T (p.Glu509Val)
n.561-5720T>A
c.998A>T (p.Glu333Val)
c.1250A>T (p.Glu417Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132340647A>CCA360813269MIR3936HG,SLC22A4c.1527A>C (p.Glu509Asp)
n.561-5721T>G
c.999A>C (p.Glu333Asp)
c.1251A>C (p.Glu417Asp)
5g.132340647A>GCA446340456MIR3936HG,SLC22A4c.1527A>G (p.Glu509=)
n.561-5721T>C
c.999A>G (p.Glu333=)
c.1251A>G (p.Glu417=)
5g.132340647A>TCA360813268MIR3936HG,SLC22A4c.1527A>T (p.Glu509Asp)
n.561-5721T>A
c.999A>T (p.Glu333Asp)
c.1251A>T (p.Glu417Asp)
5g.132340648A>CCA360813270MIR3936HG,SLC22A4c.1528A>C (p.Ser510Arg)
n.561-5722T>G
c.1000A>C (p.Ser334Arg)
c.1252A>C (p.Ser418Arg)
5g.132340648A>GCA360813271MIR3936HG,SLC22A4c.1528A>G (p.Ser510Gly)
n.561-5722T>C
c.1000A>G (p.Ser334Gly)
c.1252A>G (p.Ser418Gly)
5g.132340648A>TCA360813274MIR3936HG,SLC22A4c.1528A>T (p.Ser510Cys)
n.561-5722T>A
c.1000A>T (p.Ser334Cys)
c.1252A>T (p.Ser418Cys)
5g.132340649G>ACA360813276MIR3936HG,SLC22A4c.1529G>A (p.Ser510Asn)
n.561-5723C>T
c.1001G>A (p.Ser334Asn)
c.1253G>A (p.Ser418Asn)
5g.132340649G>CCA360813281MIR3936HG,SLC22A4c.1529G>C (p.Ser510Thr)
n.561-5723C>G
c.1001G>C (p.Ser334Thr)
c.1253G>C (p.Ser418Thr)
5g.132340649G=CA1583125039MIR3936HG,SLC22A4c.1529G= (p.Ser510=)
n.561-5723C=
c.1001G= (p.Ser334=)
c.1253G= (p.Ser418=)
5g.132340649G>TCA360813283MIR3936HG,SLC22A4c.1529G>T (p.Ser510Ile)
n.561-5723C>A
c.1001G>T (p.Ser334Ile)
c.1253G>T (p.Ser418Ile)
5g.132340650T>ACA360813284MIR3936HG,SLC22A4c.1530T>A (p.Ser510Arg)
n.561-5724A>T
c.1002T>A (p.Ser334Arg)
c.1254T>A (p.Ser418Arg)
5g.132340650T>CCA446340475MIR3936HG,SLC22A4c.1530T>C (p.Ser510=)
n.561-5724A>G
c.1002T>C (p.Ser334=)
c.1254T>C (p.Ser418=)
5g.132340650T>GCA360813285MIR3936HG,SLC22A4c.1530T>G (p.Ser510Arg)
n.561-5724A>C
c.1002T>G (p.Ser334Arg)
c.1254T>G (p.Ser418Arg)
5g.132340652_132340653insTTTTTCA2768422480MIR3936HG,SLC22A4c.1532_1533insTTTTT (p.Leu511PhefsTer5)
n.561-5724_561-5723insAAAAA
c.1004_1005insTTTTT (p.Leu335PhefsTer5)
c.1256_1257insTTTTT (p.Leu419PhefsTer5)
5g.132340652_132340653insTTTTTTTTCA2768422481MIR3936HG,SLC22A4c.1532_1533insTTTTTTTT (p.Leu511PhefsTer6)
n.561-5724_561-5723insAAAAAAAA
c.1004_1005insTTTTTTTT (p.Leu335PhefsTer6)
c.1256_1257insTTTTTTTT (p.Leu419PhefsTer6)
5g.132340652_132340653insTTTTTTTTTCA562764491MIR3936HG,SLC22A4c.1532_1533insTTTTTTTTT (p.Ser510_Leu511insPhePhePhe)
n.561-5724_561-5723insAAAAAAAAA
c.1004_1005insTTTTTTTTT (p.Ser334_Leu335insPhePhePhe)
c.1256_1257insTTTTTTTTT (p.Ser418_Leu419insPhePhePhe)
 dbSNP gnomAD v2
5g.132340651T>ACA360813286MIR3936HG,SLC22A4c.1531T>A (p.Leu511Met)
n.561-5725A>T
c.1003T>A (p.Leu335Met)
c.1255T>A (p.Leu419Met)
5g.132340651T>CCA446340479MIR3936HG,SLC22A4c.1531T>C (p.Leu511=)
n.561-5725A>G
c.1003T>C (p.Leu335=)
c.1255T>C (p.Leu419=)
5g.132340651T>GCA360813287MIR3936HG,SLC22A4c.1531T>G (p.Leu511Val)
n.561-5725A>C
c.1003T>G (p.Leu335Val)
c.1255T>G (p.Leu419Val)
5g.132340652T>ACA360813290MIR3936HG,SLC22A4c.1532T>A (p.Leu511Ter)
n.561-5726A>T
c.1004T>A (p.Leu335Ter)
c.1256T>A (p.Leu419Ter)
5g.132340652T>CCA360813291MIR3936HG,SLC22A4c.1532T>C (p.Leu511Ser)
n.561-5726A>G
c.1004T>C (p.Leu335Ser)
c.1256T>C (p.Leu419Ser)
5g.132340652T>GCA360813296MIR3936HG,SLC22A4c.1532T>G (p.Leu511Trp)
n.561-5726A>C
c.1004T>G (p.Leu335Trp)
c.1256T>G (p.Leu419Trp)
5g.132340653G>ACA446340486MIR3936HG,SLC22A4c.1533G>A (p.Leu511=)
n.561-5727C>T
c.1005G>A (p.Leu335=)
c.1257G>A (p.Leu419=)
5g.132340653G>CCA360813299MIR3936HG,SLC22A4c.1533G>C (p.Leu511Phe)
n.561-5727C>G
c.1005G>C (p.Leu335Phe)
c.1257G>C (p.Leu419Phe)
5g.132340653G>TCA360813303MIR3936HG,SLC22A4c.1533G>T (p.Leu511Phe)
n.561-5727C>A
c.1005G>T (p.Leu335Phe)
c.1257G>T (p.Leu419Phe)
5g.132340654G>ACA360813304MIR3936HG,SLC22A4c.1534G>A (p.Gly512Arg)
n.561-5728C>T
c.1006G>A (p.Gly336Arg)
c.1258G>A (p.Gly420Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.132340654G>CCA360813309MIR3936HG,SLC22A4c.1534G>C (p.Gly512Arg)
n.561-5728C>G
c.1006G>C (p.Gly336Arg)
c.1258G>C (p.Gly420Arg)
 dbSNP
5g.132340654G=CA1583125040MIR3936HG,SLC22A4c.1534G= (p.Gly512=)
n.561-5728C=
c.1006G= (p.Gly336=)
c.1258G= (p.Gly420=)
5g.132340654G>TCA360813306MIR3936HG,SLC22A4c.1534G>T (p.Gly512Ter)
n.561-5728C>A
c.1006G>T (p.Gly336Ter)
c.1258G>T (p.Gly420Ter)
5g.132340655G>ACA360813311MIR3936HG,SLC22A4c.1535G>A (p.Gly512Glu)
n.561-5729C>T
c.1007G>A (p.Gly336Glu)
c.1259G>A (p.Gly420Glu)
5g.132340655G>CCA360813312MIR3936HG,SLC22A4c.1535G>C (p.Gly512Ala)
n.561-5729C>G
c.1007G>C (p.Gly336Ala)
c.1259G>C (p.Gly420Ala)
5g.132340655G>TCA360813313MIR3936HG,SLC22A4c.1535G>T (p.Gly512Val)
n.561-5729C>A
c.1007G>T (p.Gly336Val)
c.1259G>T (p.Gly420Val)
5g.132340656A=CA1583125041MIR3936HG,SLC22A4c.1536A= (p.Gly512=)
n.561-5730T=
c.1008A= (p.Gly336=)
c.1260A= (p.Gly420=)
5g.132340656A>CCA446340507MIR3936HG,SLC22A4c.1536A>C (p.Gly512=)
n.561-5730T>G
c.1008A>C (p.Gly336=)
c.1260A>C (p.Gly420=)
5g.132340656A>GCA446340509MIR3936HG,SLC22A4c.1536A>G (p.Gly512=)
n.561-5730T>C
c.1008A>G (p.Gly336=)
c.1260A>G (p.Gly420=)
5g.132340656A>TCA446340511MIR3936HG,SLC22A4c.1536A>T (p.Gly512=)
n.561-5730T>A
c.1008A>T (p.Gly336=)
c.1260A>T (p.Gly420=)
 dbSNP gnomAD v2 gnomAD v4
5g.132340657A>CCA360813315MIR3936HG,SLC22A4c.1537A>C (p.Met513Leu)
n.561-5731T>G
c.1009A>C (p.Met337Leu)
c.1261A>C (p.Met421Leu)
5g.132340657A>GCA360813317MIR3936HG,SLC22A4c.1537A>G (p.Met513Val)
n.561-5731T>C
c.1009A>G (p.Met337Val)
c.1261A>G (p.Met421Val)
5g.132340657A>TCA360813321MIR3936HG,SLC22A4c.1537A>T (p.Met513Leu)
n.561-5731T>A
c.1009A>T (p.Met337Leu)
c.1261A>T (p.Met421Leu)
5g.132340658T>ACA360813327MIR3936HG,SLC22A4c.1538T>A (p.Met513Lys)
n.561-5732A>T
c.1010T>A (p.Met337Lys)
c.1262T>A (p.Met421Lys)
5g.132340658T>CCA360813332MIR3936HG,SLC22A4c.1538T>C (p.Met513Thr)
n.561-5732A>G
c.1010T>C (p.Met337Thr)
c.1262T>C (p.Met421Thr)
5g.132340658T>GCA360813335MIR3936HG,SLC22A4c.1538T>G (p.Met513Arg)
n.561-5732A>C
c.1010T>G (p.Met337Arg)
c.1262T>G (p.Met421Arg)
5g.132340659delCA2675193391MIR3936HG,SLC22A4c.1539del (p.Met513IlefsTer7)
n.561-5733del
c.1011del (p.Met337IlefsTer7)
c.1263del (p.Met421IlefsTer7)
 gnomAD v4
5g.132340659G>ACA360813343MIR3936HG,SLC22A4c.1539G>A (p.Met513Ile)
n.561-5733C>T
c.1011G>A (p.Met337Ile)
c.1263G>A (p.Met421Ile)
5g.132340659G>CCA360813344MIR3936HG,SLC22A4c.1539G>C (p.Met513Ile)
n.561-5733C>G
c.1011G>C (p.Met337Ile)
c.1263G>C (p.Met421Ile)
5g.132340659G>TCA360813345MIR3936HG,SLC22A4c.1539G>T (p.Met513Ile)
n.561-5733C>A
c.1011G>T (p.Met337Ile)
c.1263G>T (p.Met421Ile)
 dbSNP gnomAD v4
5g.132340660A>CCA360813353MIR3936HG,SLC22A4c.1540A>C (p.Thr514Pro)
n.561-5734T>G
c.1012A>C (p.Thr338Pro)
c.1264A>C (p.Thr422Pro)
5g.132340660A>GCA360813350MIR3936HG,SLC22A4c.1540A>G (p.Thr514Ala)
n.561-5734T>C
c.1012A>G (p.Thr338Ala)
c.1264A>G (p.Thr422Ala)
5g.132340660A>TCA360813348MIR3936HG,SLC22A4c.1540A>T (p.Thr514Ser)
n.561-5734T>A
c.1012A>T (p.Thr338Ser)
c.1264A>T (p.Thr422Ser)
5g.132340661C>ACA360813356MIR3936HG,SLC22A4c.1541C>A (p.Thr514Asn)
n.561-5735G>T
c.1013C>A (p.Thr338Asn)
c.1265C>A (p.Thr422Asn)
5g.132340661C>GCA360813360MIR3936HG,SLC22A4c.1541C>G (p.Thr514Ser)
n.561-5735G>C
c.1013C>G (p.Thr338Ser)
c.1265C>G (p.Thr422Ser)
5g.132340661C>TCA360813359MIR3936HG,SLC22A4c.1541C>T (p.Thr514Ile)
n.561-5735G>A
c.1013C>T (p.Thr338Ile)
c.1265C>T (p.Thr422Ile)
5g.132340662T>ACA446340558MIR3936HG,SLC22A4c.1542T>A (p.Thr514=)
n.561-5736A>T
c.1014T>A (p.Thr338=)
c.1266T>A (p.Thr422=)
5g.132340662T>CCA127207320MIR3936HG,SLC22A4c.1542T>C (p.Thr514=)
n.561-5736A>G
c.1014T>C (p.Thr338=)
c.1266T>C (p.Thr422=)
 dbSNP gnomAD v3 gnomAD v4
5g.132340662T>GCA446340568MIR3936HG,SLC22A4c.1542T>G (p.Thr514=)
n.561-5736A>C
c.1014T>G (p.Thr338=)
c.1266T>G (p.Thr422=)
 gnomAD v4
5g.132340662T=CA1583125042MIR3936HG,SLC22A4c.1542T= (p.Thr514=)
n.561-5736A=
c.1014T= (p.Thr338=)
c.1266T= (p.Thr422=)
5g.132340663C>ACA127207340MIR3936HG,SLC22A4c.1543C>A (p.Leu515Ile)
n.561-5737G>T
c.1015C>A (p.Leu339Ile)
c.1267C>A (p.Leu423Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.132340663C=CA1583125043MIR3936HG,SLC22A4c.1543C= (p.Leu515=)
n.561-5737G=
c.1015C= (p.Leu339=)
c.1267C= (p.Leu423=)
5g.132340663C>GCA360813363MIR3936HG,SLC22A4c.1543C>G (p.Leu515Val)
n.561-5737G>C
c.1015C>G (p.Leu339Val)
c.1267C>G (p.Leu423Val)
 gnomAD v4
5g.132340663C>TCA3403716MIR3936HG,SLC22A4c.1543C>T (p.Leu515Phe)
n.561-5737G>A
c.1015C>T (p.Leu339Phe)
c.1267C>T (p.Leu423Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132340664T>ACA360813366MIR3936HG,SLC22A4c.1544T>A (p.Leu515His)
n.561-5738A>T
c.1016T>A (p.Leu339His)
c.1268T>A (p.Leu423His)
5g.132340664T>CCA360813369MIR3936HG,SLC22A4c.1544T>C (p.Leu515Pro)
n.561-5738A>G
c.1016T>C (p.Leu339Pro)
c.1268T>C (p.Leu423Pro)
 gnomAD v4
5g.132340664T>GCA360813371MIR3936HG,SLC22A4c.1544T>G (p.Leu515Arg)
n.561-5738A>C
c.1016T>G (p.Leu339Arg)
c.1268T>G (p.Leu423Arg)
5g.132340665T>ACA446340584MIR3936HG,SLC22A4c.1545T>A (p.Leu515=)
n.561-5739A>T
c.1017T>A (p.Leu339=)
c.1269T>A (p.Leu423=)
5g.132340665T>CCA446340586MIR3936HG,SLC22A4c.1545T>C (p.Leu515=)
n.561-5739A>G
c.1017T>C (p.Leu339=)
c.1269T>C (p.Leu423=)
5g.132340665T>GCA446340598MIR3936HG,SLC22A4c.1545T>G (p.Leu515=)
n.561-5739A>C
c.1017T>G (p.Leu339=)
c.1269T>G (p.Leu423=)
5g.132340666C>ACA360813374MIR3936HG,SLC22A4c.1546C>A (p.Pro516Thr)
n.561-5740G>T
c.1018C>A (p.Pro340Thr)
c.1270C>A (p.Pro424Thr)
5g.132340666C=CA1583125044MIR3936HG,SLC22A4c.1546C= (p.Pro516=)
n.561-5740G=
c.1018C= (p.Pro340=)
c.1270C= (p.Pro424=)
5g.132340666C>GCA360813375MIR3936HG,SLC22A4c.1546C>G (p.Pro516Ala)
n.561-5740G>C
c.1018C>G (p.Pro340Ala)
c.1270C>G (p.Pro424Ala)
5g.132340666C>TCA360813376MIR3936HG,SLC22A4c.1546C>T (p.Pro516Ser)
n.561-5740G>A
c.1018C>T (p.Pro340Ser)
c.1270C>T (p.Pro424Ser)
 dbSNP COSMIC
5g.132340667C>ACA360813379MIR3936HG,SLC22A4c.1547C>A (p.Pro516Gln)
n.561-5741G>T
c.1019C>A (p.Pro340Gln)
c.1271C>A (p.Pro424Gln)
5g.132340667C>GCA360813381MIR3936HG,SLC22A4c.1547C>G (p.Pro516Arg)
n.561-5741G>C
c.1019C>G (p.Pro340Arg)
c.1271C>G (p.Pro424Arg)
5g.132340667C>TCA360813383MIR3936HG,SLC22A4c.1547C>T (p.Pro516Leu)
n.561-5741G>A
c.1019C>T (p.Pro340Leu)
c.1271C>T (p.Pro424Leu)
5g.132340668A>CCA446340617MIR3936HG,SLC22A4c.1548A>C (p.Pro516=)
n.561-5742T>G
c.1020A>C (p.Pro340=)
c.1272A>C (p.Pro424=)
5g.132340668A>GCA446340620MIR3936HG,SLC22A4c.1548A>G (p.Pro516=)
n.561-5742T>C
c.1020A>G (p.Pro340=)
c.1272A>G (p.Pro424=)
5g.132340668A>TCA446340622MIR3936HG,SLC22A4c.1548A>T (p.Pro516=)
n.561-5742T>A
c.1020A>T (p.Pro340=)
c.1272A>T (p.Pro424=)
5g.132340669G>ACA360813389MIR3936HG,SLC22A4c.1549G>A (p.Glu517Lys)
n.561-5743C>T
c.1021G>A (p.Glu341Lys)
c.1273G>A (p.Glu425Lys)
5g.132340669G>CCA360813392MIR3936HG,SLC22A4c.1549G>C (p.Glu517Gln)
n.561-5743C>G
c.1021G>C (p.Glu341Gln)
c.1273G>C (p.Glu425Gln)
5g.132340669G>TCA360813391MIR3936HG,SLC22A4c.1549G>T (p.Glu517Ter)
n.561-5743C>A
c.1021G>T (p.Glu341Ter)
c.1273G>T (p.Glu425Ter)
5g.132340670A>CCA360813395MIR3936HG,SLC22A4c.1550A>C (p.Glu517Ala)
n.561-5744T>G
c.1022A>C (p.Glu341Ala)
c.1274A>C (p.Glu425Ala)
 COSMIC
5g.132340670A>GCA360813398MIR3936HG,SLC22A4c.1550A>G (p.Glu517Gly)
n.561-5744T>C
c.1022A>G (p.Glu341Gly)
c.1274A>G (p.Glu425Gly)
5g.132340670A>TCA360813400MIR3936HG,SLC22A4c.1550A>T (p.Glu517Val)
n.561-5744T>A
c.1022A>T (p.Glu341Val)
c.1274A>T (p.Glu425Val)
 gnomAD v4
5g.132340671A>CCA360813401MIR3936HG,SLC22A4c.1551A>C (p.Glu517Asp)
n.561-5745T>G
c.1023A>C (p.Glu341Asp)
c.1275A>C (p.Glu425Asp)
5g.132340671A>GCA446340646MIR3936HG,SLC22A4c.1551A>G (p.Glu517=)
n.561-5745T>C
c.1023A>G (p.Glu341=)
c.1275A>G (p.Glu425=)
 ClinVar
5g.132340671A>TCA360813402MIR3936HG,SLC22A4c.1551A>T (p.Glu517Asp)
n.561-5745T>A
c.1023A>T (p.Glu341Asp)
c.1275A>T (p.Glu425Asp)

Number of alleles fetched