Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.75196537C>ACA381871120SLCO2B1c.1457C>A (p.Ser486Tyr)
c.1391C>A (p.Ser464Tyr)
c.776C>A (p.Ser259Tyr)
c.1025C>A (p.Ser342Tyr)
n.263C>A
n.284C>A
n.1004C>A
c.1109C>A (p.Ser370Tyr)
c.1463C>A (p.Ser488Tyr)
11g.75196537C=CA1983218000SLCO2B1c.1457C= (p.Ser486=)
c.1391C= (p.Ser464=)
c.776C= (p.Ser259=)
c.1025C= (p.Ser342=)
n.263C=
n.284C=
n.1004C=
c.1109C= (p.Ser370=)
c.1463C= (p.Ser488=)
11g.75196537C>GCA381871121SLCO2B1c.1457C>G (p.Ser486Cys)
c.1391C>G (p.Ser464Cys)
c.776C>G (p.Ser259Cys)
c.1025C>G (p.Ser342Cys)
n.263C>G
n.284C>G
n.1004C>G
c.1109C>G (p.Ser370Cys)
c.1463C>G (p.Ser488Cys)
11g.75196537C>TCA6188400SLCO2B1c.1457C>T (p.Ser486Phe)
c.1391C>T (p.Ser464Phe)
c.776C>T (p.Ser259Phe)
c.1025C>T (p.Ser342Phe)
n.263C>T
n.284C>T
n.1004C>T
c.1109C>T (p.Ser370Phe)
c.1463C>T (p.Ser488Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.75196538T>ACA475707479SLCO2B1c.1458T>A (p.Ser486=)
c.1392T>A (p.Ser464=)
c.777T>A (p.Ser259=)
c.1026T>A (p.Ser342=)
n.264T>A
n.285T>A
n.1005T>A
c.1110T>A (p.Ser370=)
c.1464T>A (p.Ser488=)
11g.75196538T>CCA475707477SLCO2B1c.1458T>C (p.Ser486=)
c.1392T>C (p.Ser464=)
c.777T>C (p.Ser259=)
c.1026T>C (p.Ser342=)
n.264T>C
n.285T>C
n.1005T>C
c.1110T>C (p.Ser370=)
c.1464T>C (p.Ser488=)
11g.75196538T>GCA475707476SLCO2B1c.1458T>G (p.Ser486=)
c.1392T>G (p.Ser464=)
c.777T>G (p.Ser259=)
c.1026T>G (p.Ser342=)
n.264T>G
n.285T>G
n.1005T>G
c.1110T>G (p.Ser370=)
c.1464T>G (p.Ser488=)
11g.75196539C>ACA381871122SLCO2B1c.1459C>A (p.Pro487Thr)
c.1393C>A (p.Pro465Thr)
c.778C>A (p.Pro260Thr)
c.1027C>A (p.Pro343Thr)
n.265C>A
n.286C>A
n.1006C>A
c.1111C>A (p.Pro371Thr)
c.1465C>A (p.Pro489Thr)
11g.75196539C=CA1983218001SLCO2B1c.1459C= (p.Pro487=)
c.1393C= (p.Pro465=)
c.778C= (p.Pro260=)
c.1027C= (p.Pro343=)
n.265C=
n.286C=
n.1006C=
c.1111C= (p.Pro371=)
c.1465C= (p.Pro489=)
11g.75196539C>GCA381871123SLCO2B1c.1459C>G (p.Pro487Ala)
c.1393C>G (p.Pro465Ala)
c.778C>G (p.Pro260Ala)
c.1027C>G (p.Pro343Ala)
n.265C>G
n.286C>G
n.1006C>G
c.1111C>G (p.Pro371Ala)
c.1465C>G (p.Pro489Ala)
11g.75196539C>TCA6188401SLCO2B1c.1459C>T (p.Pro487Ser)
c.1393C>T (p.Pro465Ser)
c.778C>T (p.Pro260Ser)
c.1027C>T (p.Pro343Ser)
n.265C>T
n.286C>T
n.1006C>T
c.1111C>T (p.Pro371Ser)
c.1465C>T (p.Pro489Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.75196540C>ACA381871126SLCO2B1c.1460C>A (p.Pro487Gln)
c.1394C>A (p.Pro465Gln)
c.779C>A (p.Pro260Gln)
c.1028C>A (p.Pro343Gln)
n.266C>A
n.287C>A
n.1007C>A
c.1112C>A (p.Pro371Gln)
c.1466C>A (p.Pro489Gln)
11g.75196540C>GCA381871124SLCO2B1c.1460C>G (p.Pro487Arg)
c.1394C>G (p.Pro465Arg)
c.779C>G (p.Pro260Arg)
c.1028C>G (p.Pro343Arg)
n.266C>G
n.287C>G
n.1007C>G
c.1112C>G (p.Pro371Arg)
c.1466C>G (p.Pro489Arg)
11g.75196540C>TCA381871125SLCO2B1c.1460C>T (p.Pro487Leu)
c.1394C>T (p.Pro465Leu)
c.779C>T (p.Pro260Leu)
c.1028C>T (p.Pro343Leu)
n.266C>T
n.287C>T
n.1007C>T
c.1112C>T (p.Pro371Leu)
c.1466C>T (p.Pro489Leu)
gnomAD v4
11g.75196541A>CCA475707489SLCO2B1c.1461A>C (p.Pro487=)
c.1395A>C (p.Pro465=)
c.780A>C (p.Pro260=)
c.1029A>C (p.Pro343=)
n.267A>C
n.288A>C
n.1008A>C
c.1113A>C (p.Pro371=)
c.1467A>C (p.Pro489=)
11g.75196541A>GCA475707492SLCO2B1c.1461A>G (p.Pro487=)
c.1395A>G (p.Pro465=)
c.780A>G (p.Pro260=)
c.1029A>G (p.Pro343=)
n.267A>G
n.288A>G
n.1008A>G
c.1113A>G (p.Pro371=)
c.1467A>G (p.Pro489=)
11g.75196541A>TCA475707490SLCO2B1c.1461A>T (p.Pro487=)
c.1395A>T (p.Pro465=)
c.780A>T (p.Pro260=)
c.1029A>T (p.Pro343=)
n.267A>T
n.288A>T
n.1008A>T
c.1113A>T (p.Pro371=)
c.1467A>T (p.Pro489=)
COSMIC
11g.75196542A>CCA381871127SLCO2B1c.1462A>C (p.Ser488Arg)
c.1396A>C (p.Ser466Arg)
c.781A>C (p.Ser261Arg)
c.1030A>C (p.Ser344Arg)
n.268A>C
n.289A>C
n.1009A>C
c.1114A>C (p.Ser372Arg)
c.1468A>C (p.Ser490Arg)
11g.75196542A>GCA381871128SLCO2B1c.1462A>G (p.Ser488Gly)
c.1396A>G (p.Ser466Gly)
c.781A>G (p.Ser261Gly)
c.1030A>G (p.Ser344Gly)
n.268A>G
n.289A>G
n.1009A>G
c.1114A>G (p.Ser372Gly)
c.1468A>G (p.Ser490Gly)
11g.75196542A>TCA381871129SLCO2B1c.1462A>T (p.Ser488Cys)
c.1396A>T (p.Ser466Cys)
c.781A>T (p.Ser261Cys)
c.1030A>T (p.Ser344Cys)
n.268A>T
n.289A>T
n.1009A>T
c.1114A>T (p.Ser372Cys)
c.1468A>T (p.Ser490Cys)
11g.75196543G>ACA381871130SLCO2B1c.1463G>A (p.Ser488Asn)
c.1397G>A (p.Ser466Asn)
c.782G>A (p.Ser261Asn)
c.1031G>A (p.Ser344Asn)
n.269G>A
n.290G>A
n.1010G>A
c.1115G>A (p.Ser372Asn)
c.1469G>A (p.Ser490Asn)
11g.75196543G>CCA381871131SLCO2B1c.1463G>C (p.Ser488Thr)
c.1397G>C (p.Ser466Thr)
c.782G>C (p.Ser261Thr)
c.1031G>C (p.Ser344Thr)
n.269G>C
n.290G>C
n.1010G>C
c.1115G>C (p.Ser372Thr)
c.1469G>C (p.Ser490Thr)
11g.75196543G>TCA381871132SLCO2B1c.1463G>T (p.Ser488Ile)
c.1397G>T (p.Ser466Ile)
c.782G>T (p.Ser261Ile)
c.1031G>T (p.Ser344Ile)
n.269G>T
n.290G>T
n.1010G>T
c.1115G>T (p.Ser372Ile)
c.1469G>T (p.Ser490Ile)
11g.75196544C>ACA381871133SLCO2B1c.1464C>A (p.Ser488Arg)
c.1398C>A (p.Ser466Arg)
c.783C>A (p.Ser261Arg)
c.1032C>A (p.Ser344Arg)
n.270C>A
n.291C>A
n.1011C>A
c.1116C>A (p.Ser372Arg)
c.1470C>A (p.Ser490Arg)
11g.75196544C>GCA381871134SLCO2B1c.1464C>G (p.Ser488Arg)
c.1398C>G (p.Ser466Arg)
c.783C>G (p.Ser261Arg)
c.1032C>G (p.Ser344Arg)
n.270C>G
n.291C>G
n.1011C>G
c.1116C>G (p.Ser372Arg)
c.1470C>G (p.Ser490Arg)
11g.75196544C>TCA475707501SLCO2B1c.1464C>T (p.Ser488=)
c.1398C>T (p.Ser466=)
c.783C>T (p.Ser261=)
c.1032C>T (p.Ser344=)
n.270C>T
n.291C>T
n.1011C>T
c.1116C>T (p.Ser372=)
c.1470C>T (p.Ser490=)
11g.75196545T>ACA381871135SLCO2B1c.1465T>A (p.Cys489Ser)
c.1399T>A (p.Cys467Ser)
c.784T>A (p.Cys262Ser)
c.1033T>A (p.Cys345Ser)
n.271T>A
n.292T>A
n.1012T>A
c.1117T>A (p.Cys373Ser)
c.1471T>A (p.Cys491Ser)
11g.75196545T>CCA381871136SLCO2B1c.1465T>C (p.Cys489Arg)
c.1399T>C (p.Cys467Arg)
c.784T>C (p.Cys262Arg)
c.1033T>C (p.Cys345Arg)
n.271T>C
n.292T>C
n.1012T>C
c.1117T>C (p.Cys373Arg)
c.1471T>C (p.Cys491Arg)
11g.75196545T>GCA381871137SLCO2B1c.1465T>G (p.Cys489Gly)
c.1399T>G (p.Cys467Gly)
c.784T>G (p.Cys262Gly)
c.1033T>G (p.Cys345Gly)
n.271T>G
n.292T>G
n.1012T>G
c.1117T>G (p.Cys373Gly)
c.1471T>G (p.Cys491Gly)
11g.75196546G>ACA381871140SLCO2B1c.1466G>A (p.Cys489Tyr)
c.1400G>A (p.Cys467Tyr)
c.785G>A (p.Cys262Tyr)
c.1034G>A (p.Cys345Tyr)
n.272G>A
n.293G>A
n.1013G>A
c.1118G>A (p.Cys373Tyr)
c.1472G>A (p.Cys491Tyr)
11g.75196546G>CCA381871139SLCO2B1c.1466G>C (p.Cys489Ser)
c.1400G>C (p.Cys467Ser)
c.785G>C (p.Cys262Ser)
c.1034G>C (p.Cys345Ser)
n.272G>C
n.293G>C
n.1013G>C
c.1118G>C (p.Cys373Ser)
c.1472G>C (p.Cys491Ser)
11g.75196546G=CA1983218002SLCO2B1c.1466G= (p.Cys489=)
c.1400G= (p.Cys467=)
c.785G= (p.Cys262=)
c.1034G= (p.Cys345=)
n.272G=
n.293G=
n.1013G=
c.1118G= (p.Cys373=)
c.1472G= (p.Cys491=)
11g.75196546G>TCA381871138SLCO2B1c.1466G>T (p.Cys489Phe)
c.1400G>T (p.Cys467Phe)
c.785G>T (p.Cys262Phe)
c.1034G>T (p.Cys345Phe)
n.272G>T
n.293G>T
n.1013G>T
c.1118G>T (p.Cys373Phe)
c.1472G>T (p.Cys491Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.75196547C>ACA381871141SLCO2B1c.1467C>A (p.Cys489Ter)
c.1401C>A (p.Cys467Ter)
c.786C>A (p.Cys262Ter)
c.1035C>A (p.Cys345Ter)
n.273C>A
n.294C>A
n.1014C>A
c.1119C>A (p.Cys373Ter)
c.1473C>A (p.Cys491Ter)
11g.75196547C=CA1983218003SLCO2B1c.1467C= (p.Cys489=)
c.1401C= (p.Cys467=)
c.786C= (p.Cys262=)
c.1035C= (p.Cys345=)
n.273C=
n.294C=
n.1014C=
c.1119C= (p.Cys373=)
c.1473C= (p.Cys491=)
11g.75196547C>GCA381871142SLCO2B1c.1467C>G (p.Cys489Trp)
c.1401C>G (p.Cys467Trp)
c.786C>G (p.Cys262Trp)
c.1035C>G (p.Cys345Trp)
n.273C>G
n.294C>G
n.1014C>G
c.1119C>G (p.Cys373Trp)
c.1473C>G (p.Cys491Trp)
11g.75196547C>TCA475707510SLCO2B1c.1467C>T (p.Cys489=)
c.1401C>T (p.Cys467=)
c.786C>T (p.Cys262=)
c.1035C>T (p.Cys345=)
n.273C>T
n.294C>T
n.1014C>T
c.1119C>T (p.Cys373=)
c.1473C>T (p.Cys491=)
11g.75196548A=CA1983218004SLCO2B1c.1468A= (p.Met490=)
c.1402A= (p.Met468=)
c.787A= (p.Met263=)
c.1036A= (p.Met346=)
n.274A=
n.295A=
n.1015A=
c.1120A= (p.Met374=)
c.1474A= (p.Met492=)
11g.75196548A>CCA381871143SLCO2B1c.1468A>C (p.Met490Leu)
c.1402A>C (p.Met468Leu)
c.787A>C (p.Met263Leu)
c.1036A>C (p.Met346Leu)
n.274A>C
n.295A>C
n.1015A>C
c.1120A>C (p.Met374Leu)
c.1474A>C (p.Met492Leu)
11g.75196548A>GCA6188402SLCO2B1c.1468A>G (p.Met490Val)
c.1402A>G (p.Met468Val)
c.787A>G (p.Met263Val)
c.1036A>G (p.Met346Val)
n.274A>G
n.295A>G
n.1015A>G
c.1120A>G (p.Met374Val)
c.1474A>G (p.Met492Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.75196548A>TCA381871144SLCO2B1c.1468A>T (p.Met490Leu)
c.1402A>T (p.Met468Leu)
c.787A>T (p.Met263Leu)
c.1036A>T (p.Met346Leu)
n.274A>T
n.295A>T
n.1015A>T
c.1120A>T (p.Met374Leu)
c.1474A>T (p.Met492Leu)
11g.75196548dupCA600282354SLCO2B1c.1468dup (p.Met490AsnfsTer12)
c.1402dup (p.Met468AsnfsTer12)
c.787dup (p.Met263AsnfsTer12)
c.1036dup (p.Met346AsnfsTer12)
n.274dup
n.295dup
n.1015dup
c.1120dup (p.Met374AsnfsTer12)
c.1474dup (p.Met492AsnfsTer12)
dbSNP gnomAD v2 gnomAD v4
11g.75196549T>ACA381871147SLCO2B1c.1469T>A (p.Met490Lys)
c.1403T>A (p.Met468Lys)
c.788T>A (p.Met263Lys)
c.1037T>A (p.Met346Lys)
n.275T>A
n.296T>A
n.1016T>A
c.1121T>A (p.Met374Lys)
c.1475T>A (p.Met492Lys)
11g.75196549T>CCA381871146SLCO2B1c.1469T>C (p.Met490Thr)
c.1403T>C (p.Met468Thr)
c.788T>C (p.Met263Thr)
c.1037T>C (p.Met346Thr)
n.275T>C
n.296T>C
n.1016T>C
c.1121T>C (p.Met374Thr)
c.1475T>C (p.Met492Thr)
gnomAD v4
11g.75196549T>GCA381871145SLCO2B1c.1469T>G (p.Met490Arg)
c.1403T>G (p.Met468Arg)
c.788T>G (p.Met263Arg)
c.1037T>G (p.Met346Arg)
n.275T>G
n.296T>G
n.1016T>G
c.1121T>G (p.Met374Arg)
c.1475T>G (p.Met492Arg)
11g.75196550G>ACA381871148SLCO2B1c.1470G>A (p.Met490Ile)
c.1404G>A (p.Met468Ile)
c.789G>A (p.Met263Ile)
c.1038G>A (p.Met346Ile)
n.276G>A
n.297G>A
n.1017G>A
c.1122G>A (p.Met374Ile)
c.1476G>A (p.Met492Ile)
dbSNP
11g.75196550G>CCA381871149SLCO2B1c.1470G>C (p.Met490Ile)
c.1404G>C (p.Met468Ile)
c.789G>C (p.Met263Ile)
c.1038G>C (p.Met346Ile)
n.276G>C
n.297G>C
n.1017G>C
c.1122G>C (p.Met374Ile)
c.1476G>C (p.Met492Ile)
11g.75196550G=CA1983218005SLCO2B1c.1470G= (p.Met490=)
c.1404G= (p.Met468=)
c.789G= (p.Met263=)
c.1038G= (p.Met346=)
n.276G=
n.297G=
n.1017G=
c.1122G= (p.Met374=)
c.1476G= (p.Met492=)
11g.75196550G>TCA381871150SLCO2B1c.1470G>T (p.Met490Ile)
c.1404G>T (p.Met468Ile)
c.789G>T (p.Met263Ile)
c.1038G>T (p.Met346Ile)
n.276G>T
n.297G>T
n.1017G>T
c.1122G>T (p.Met374Ile)
c.1476G>T (p.Met492Ile)
COSMIC
11g.75196551G>ACA381871151SLCO2B1c.1471G>A (p.Glu491Lys)
c.1405G>A (p.Glu469Lys)
c.790G>A (p.Glu264Lys)
c.1039G>A (p.Glu347Lys)
n.277G>A
n.298G>A
n.1018G>A
c.1123G>A (p.Glu375Lys)
c.1477G>A (p.Glu493Lys)
gnomAD v4

Number of alleles fetched