Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.75196537C>A | CA381871120 | SLCO2B1 | c.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) | |
11 | g.75196537C= | CA1983218000 | SLCO2B1 | c.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=) | |
11 | g.75196537C>G | CA381871121 | SLCO2B1 | c.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) | |
11 | g.75196537C>T | CA6188400 | SLCO2B1 | c.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 |
11 | g.75196538T>A | CA475707479 | SLCO2B1 | c.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=) | |
11 | g.75196538T>C | CA475707477 | SLCO2B1 | c.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=) | |
11 | g.75196538T>G | CA475707476 | SLCO2B1 | c.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=) | |
11 | g.75196539C>A | CA381871122 | SLCO2B1 | c.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) | |
11 | g.75196539C= | CA1983218001 | SLCO2B1 | c.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=) | |
11 | g.75196539C>G | CA381871123 | SLCO2B1 | c.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) | |
11 | g.75196539C>T | CA6188401 | SLCO2B1 | c.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 |
11 | g.75196540C>A | CA381871126 | SLCO2B1 | c.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) | |
11 | g.75196540C>G | CA381871124 | SLCO2B1 | c.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) | |
11 | g.75196540C>T | CA381871125 | SLCO2B1 | c.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 |
11 | g.75196541A>C | CA475707489 | SLCO2B1 | c.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=) | |
11 | g.75196541A>G | CA475707492 | SLCO2B1 | c.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=) | |
11 | g.75196541A>T | CA475707490 | SLCO2B1 | c.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 |
11 | g.75196542A>C | CA381871127 | SLCO2B1 | c.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) | |
11 | g.75196542A>G | CA381871128 | SLCO2B1 | c.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) | |
11 | g.75196542A>T | CA381871129 | SLCO2B1 | c.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) | |
11 | g.75196543G>A | CA381871130 | SLCO2B1 | c.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) | |
11 | g.75196543G>C | CA381871131 | SLCO2B1 | c.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) | |
11 | g.75196543G>T | CA381871132 | SLCO2B1 | c.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) | |
11 | g.75196544C>A | CA381871133 | SLCO2B1 | c.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) | |
11 | g.75196544C>G | CA381871134 | SLCO2B1 | c.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) | |
11 | g.75196544C>T | CA475707501 | SLCO2B1 | c.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=) | |
11 | g.75196545T>A | CA381871135 | SLCO2B1 | c.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) | |
11 | g.75196545T>C | CA381871136 | SLCO2B1 | c.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) | |
11 | g.75196545T>G | CA381871137 | SLCO2B1 | c.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) | |
11 | g.75196546G>A | CA381871140 | SLCO2B1 | c.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) | |
11 | g.75196546G>C | CA381871139 | SLCO2B1 | c.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) | |
11 | g.75196546G= | CA1983218002 | SLCO2B1 | c.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=) | |
11 | g.75196546G>T | CA381871138 | SLCO2B1 | c.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 |
11 | g.75196547C>A | CA381871141 | SLCO2B1 | c.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) | |
11 | g.75196547C= | CA1983218003 | SLCO2B1 | c.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=) | |
11 | g.75196547C>G | CA381871142 | SLCO2B1 | c.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) | |
11 | g.75196547C>T | CA475707510 | SLCO2B1 | c.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=) | |
11 | g.75196548A= | CA1983218004 | SLCO2B1 | c.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=) | |
11 | g.75196548A>C | CA381871143 | SLCO2B1 | c.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) | |
11 | g.75196548A>G | CA6188402 | SLCO2B1 | c.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 |
11 | g.75196548A>T | CA381871144 | SLCO2B1 | c.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) | |
11 | g.75196548dup | CA600282354 | SLCO2B1 | c.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 |
11 | g.75196549T>A | CA381871147 | SLCO2B1 | c.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) | |
11 | g.75196549T>C | CA381871146 | SLCO2B1 | c.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 |
11 | g.75196549T>G | CA381871145 | SLCO2B1 | c.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) | |
11 | g.75196550G>A | CA381871148 | SLCO2B1 | c.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 |
11 | g.75196550G>C | CA381871149 | SLCO2B1 | c.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) | |
11 | g.75196550G= | CA1983218005 | SLCO2B1 | c.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=) | |
11 | g.75196550G>T | CA381871150 | SLCO2B1 | c.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 |
11 | g.75196551G>A | CA381871151 | SLCO2B1 | c.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 |