Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233767873C>ACA431857591UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1012C>A (p.Arg338=)
c.1024C>A (p.Arg342=)
c.1018C>A (p.Arg340=)
c.1021C>A (p.Arg341=)
c.217C>A (p.Arg73=)
2g.233767873C=CA1335895078UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1012C= (p.Arg338=)
c.1024C= (p.Arg342=)
c.1018C= (p.Arg340=)
c.1021C= (p.Arg341=)
c.217C= (p.Arg73=)
2g.233767873C>GCA351072904UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1012C>G (p.Arg338Gly)
c.1024C>G (p.Arg342Gly)
c.1018C>G (p.Arg340Gly)
c.1021C>G (p.Arg341Gly)
c.217C>G (p.Arg73Gly)
dbSNP gnomAD v2 gnomAD v4
2g.233767873C>TCA122029UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1012C>T (p.Arg338Ter)
c.1024C>T (p.Arg342Ter)
c.1018C>T (p.Arg340Ter)
c.1021C>T (p.Arg341Ter)
c.217C>T (p.Arg73Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767874G>ACA2179966UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1013G>A (p.Arg338Gln)
c.1025G>A (p.Arg342Gln)
c.1019G>A (p.Arg340Gln)
c.1022G>A (p.Arg341Gln)
c.218G>A (p.Arg73Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767874G>CCA351072912UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1013G>C (p.Arg338Pro)
c.1025G>C (p.Arg342Pro)
c.1019G>C (p.Arg340Pro)
c.1022G>C (p.Arg341Pro)
c.218G>C (p.Arg73Pro)
2g.233767874G=CA1335895079UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1013G= (p.Arg338=)
c.1025G= (p.Arg342=)
c.1019G= (p.Arg340=)
c.1022G= (p.Arg341=)
c.218G= (p.Arg73=)
2g.233767874G>TCA351072914UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1013G>T (p.Arg338Leu)
c.1025G>T (p.Arg342Leu)
c.1019G>T (p.Arg340Leu)
c.1022G>T (p.Arg341Leu)
c.218G>T (p.Arg73Leu)
2g.233767874_233767877delinsGACCCA1335895080UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1013_1016delinsGACC (p.Arg338=)
c.1025_1028delinsGACC (p.Arg342=)
c.1019_1022delinsGACC (p.Arg340=)
c.1022_1025delinsGACC (p.Arg341=)
c.218_221delinsGACC (p.Arg73=)
2g.233767875A>CCA431857602UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1014A>C (p.Arg338=)
c.1026A>C (p.Arg342=)
c.1020A>C (p.Arg340=)
c.1023A>C (p.Arg341=)
c.219A>C (p.Arg73=)
2g.233767875A>GCA431857600UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1014A>G (p.Arg338=)
c.1026A>G (p.Arg342=)
c.1020A>G (p.Arg340=)
c.1023A>G (p.Arg341=)
c.219A>G (p.Arg73=)
2g.233767875A>TCA431857598UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1014A>T (p.Arg338=)
c.1026A>T (p.Arg342=)
c.1020A>T (p.Arg340=)
c.1023A>T (p.Arg341=)
c.219A>T (p.Arg73=)
2g.233767876_233767878delCA540311596UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1015_1017del (p.Pro339del)
c.1027_1029del (p.Pro343del)
c.1021_1023del (p.Pro341del)
c.1024_1026del (p.Pro342del)
c.220_222del (p.Pro74del)
dbSNP gnomAD v2
2g.233767876C>ACA67595798UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1015C>A (p.Pro339Thr)
c.1027C>A (p.Pro343Thr)
c.1021C>A (p.Pro341Thr)
c.1024C>A (p.Pro342Thr)
c.220C>A (p.Pro74Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767876C=CA1335895081UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1015C= (p.Pro339=)
c.1027C= (p.Pro343=)
c.1021C= (p.Pro341=)
c.1024C= (p.Pro342=)
c.220C= (p.Pro74=)
2g.233767876C>GCA351072921UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1015C>G (p.Pro339Ala)
c.1027C>G (p.Pro343Ala)
c.1021C>G (p.Pro341Ala)
c.1024C>G (p.Pro342Ala)
c.220C>G (p.Pro74Ala)
2g.233767876C>TCA351072916UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1015C>T (p.Pro339Ser)
c.1027C>T (p.Pro343Ser)
c.1021C>T (p.Pro341Ser)
c.1024C>T (p.Pro342Ser)
c.220C>T (p.Pro74Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233767877C>ACA351072926UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1016C>A (p.Pro339Gln)
c.1028C>A (p.Pro343Gln)
c.1022C>A (p.Pro341Gln)
c.1025C>A (p.Pro342Gln)
c.221C>A (p.Pro74Gln)
2g.233767877C>GCA351072929UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1016C>G (p.Pro339Arg)
c.1028C>G (p.Pro343Arg)
c.1022C>G (p.Pro341Arg)
c.1025C>G (p.Pro342Arg)
c.221C>G (p.Pro74Arg)
2g.233767877C>TCA351072941UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1016C>T (p.Pro339Leu)
c.1028C>T (p.Pro343Leu)
c.1022C>T (p.Pro341Leu)
c.1025C>T (p.Pro342Leu)
c.221C>T (p.Pro74Leu)
2g.233767878delCA2663717204UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1017del (p.Ser340ArgfsTer23)
c.1029del (p.Ser344ArgfsTer23)
c.1023del (p.Ser342ArgfsTer23)
c.1026del (p.Ser343ArgfsTer23)
c.222del (p.Ser75ArgfsTer23)
gnomAD v4
2g.233767878A=CA1335895082UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1017A= (p.Pro339=)
c.1029A= (p.Pro343=)
c.1023A= (p.Pro341=)
c.1026A= (p.Pro342=)
c.222A= (p.Pro74=)
2g.233767878A>CCA431857618UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1017A>C (p.Pro339=)
c.1029A>C (p.Pro343=)
c.1023A>C (p.Pro341=)
c.1026A>C (p.Pro342=)
c.222A>C (p.Pro74=)
2g.233767878A>GCA431857616UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1017A>G (p.Pro339=)
c.1029A>G (p.Pro343=)
c.1023A>G (p.Pro341=)
c.1026A>G (p.Pro342=)
c.222A>G (p.Pro74=)
dbSNP gnomAD v3 gnomAD v4
2g.233767878A>TCA2179967UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1017A>T (p.Pro339=)
c.1029A>T (p.Pro343=)
c.1023A>T (p.Pro341=)
c.1026A>T (p.Pro342=)
c.222A>T (p.Pro74=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767879T>ACA351072948UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1018T>A (p.Ser340Thr)
c.1030T>A (p.Ser344Thr)
c.1024T>A (p.Ser342Thr)
c.1027T>A (p.Ser343Thr)
c.223T>A (p.Ser75Thr)
2g.233767879T>CCA351072950UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1018T>C (p.Ser340Pro)
c.1030T>C (p.Ser344Pro)
c.1024T>C (p.Ser342Pro)
c.1027T>C (p.Ser343Pro)
c.223T>C (p.Ser75Pro)
gnomAD v4
2g.233767879T>GCA351072975UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1018T>G (p.Ser340Ala)
c.1030T>G (p.Ser344Ala)
c.1024T>G (p.Ser342Ala)
c.1027T>G (p.Ser343Ala)
c.223T>G (p.Ser75Ala)
2g.233767880C>ACA2179969UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1019C>A (p.Ser340Ter)
c.1031C>A (p.Ser344Ter)
c.1025C>A (p.Ser342Ter)
c.1028C>A (p.Ser343Ter)
c.224C>A (p.Ser75Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767880C=CA1335895083UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1019C= (p.Ser340=)
c.1031C= (p.Ser344=)
c.1025C= (p.Ser342=)
c.1028C= (p.Ser343=)
c.224C= (p.Ser75=)
2g.233767880C>GCA351072986UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1019C>G (p.Ser340Trp)
c.1031C>G (p.Ser344Trp)
c.1025C>G (p.Ser342Trp)
c.1028C>G (p.Ser343Trp)
c.224C>G (p.Ser75Trp)
dbSNP gnomAD v2 gnomAD v4
2g.233767880C>TCA2179968UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1019C>T (p.Ser340Leu)
c.1031C>T (p.Ser344Leu)
c.1025C>T (p.Ser342Leu)
c.1028C>T (p.Ser343Leu)
c.224C>T (p.Ser75Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767881G>ACA431857631UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1020G>A (p.Ser340=)
c.1032G>A (p.Ser344=)
c.1026G>A (p.Ser342=)
c.1029G>A (p.Ser343=)
c.225G>A (p.Ser75=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767881G>CCA431857633UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1020G>C (p.Ser340=)
c.1032G>C (p.Ser344=)
c.1026G>C (p.Ser342=)
c.1029G>C (p.Ser343=)
c.225G>C (p.Ser75=)
2g.233767881G=CA1335895084UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1020G= (p.Ser340=)
c.1032G= (p.Ser344=)
c.1026G= (p.Ser342=)
c.1029G= (p.Ser343=)
c.225G= (p.Ser75=)
2g.233767881G>TCA431857630UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1020G>T (p.Ser340=)
c.1032G>T (p.Ser344=)
c.1026G>T (p.Ser342=)
c.1029G>T (p.Ser343=)
c.225G>T (p.Ser75=)
dbSNP
2g.233767882A>CCA351073009UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1021A>C (p.Asn341His)
c.1033A>C (p.Asn345His)
c.1027A>C (p.Asn343His)
c.1030A>C (p.Asn344His)
c.226A>C (p.Asn76His)
2g.233767882A>GCA351073014UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1021A>G (p.Asn341Asp)
c.1033A>G (p.Asn345Asp)
c.1027A>G (p.Asn343Asp)
c.1030A>G (p.Asn344Asp)
c.226A>G (p.Asn76Asp)
2g.233767882A>TCA351073017UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1021A>T (p.Asn341Tyr)
c.1033A>T (p.Asn345Tyr)
c.1027A>T (p.Asn343Tyr)
c.1030A>T (p.Asn344Tyr)
c.226A>T (p.Asn76Tyr)
2g.233767883A=CA1335895085UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1022A= (p.Asn341=)
c.1034A= (p.Asn345=)
c.1028A= (p.Asn343=)
c.1031A= (p.Asn344=)
c.227A= (p.Asn76=)
2g.233767883A>CCA351073022UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1022A>C (p.Asn341Thr)
c.1034A>C (p.Asn345Thr)
c.1028A>C (p.Asn343Thr)
c.1031A>C (p.Asn344Thr)
c.227A>C (p.Asn76Thr)
2g.233767883A>GCA351073020UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1022A>G (p.Asn341Ser)
c.1034A>G (p.Asn345Ser)
c.1028A>G (p.Asn343Ser)
c.1031A>G (p.Asn344Ser)
c.227A>G (p.Asn76Ser)
dbSNP gnomAD v2 gnomAD v4
2g.233767883A>TCA351073021UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1022A>T (p.Asn341Ile)
c.1034A>T (p.Asn345Ile)
c.1028A>T (p.Asn343Ile)
c.1031A>T (p.Asn344Ile)
c.227A>T (p.Asn76Ile)
2g.233767884T>ACA2179970UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1023T>A (p.Asn341Lys)
c.1035T>A (p.Asn345Lys)
c.1029T>A (p.Asn343Lys)
c.1032T>A (p.Asn344Lys)
c.228T>A (p.Asn76Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767884T>CCA431857644UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1023T>C (p.Asn341=)
c.1035T>C (p.Asn345=)
c.1029T>C (p.Asn343=)
c.1032T>C (p.Asn344=)
c.228T>C (p.Asn76=)
dbSNP gnomAD v3 gnomAD v4
2g.233767884T>GCA351073034UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1023T>G (p.Asn341Lys)
c.1035T>G (p.Asn345Lys)
c.1029T>G (p.Asn343Lys)
c.1032T>G (p.Asn344Lys)
c.228T>G (p.Asn76Lys)
2g.233767884T=CA1335895086UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1023T= (p.Asn341=)
c.1035T= (p.Asn345=)
c.1029T= (p.Asn343=)
c.1032T= (p.Asn344=)
c.228T= (p.Asn76=)
2g.233767885C>ACA351073037UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1024C>A (p.Leu342Ile)
c.1036C>A (p.Leu346Ile)
c.1030C>A (p.Leu344Ile)
c.1033C>A (p.Leu345Ile)
c.229C>A (p.Leu77Ile)
2g.233767885C>GCA351073038UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1024C>G (p.Leu342Val)
c.1036C>G (p.Leu346Val)
c.1030C>G (p.Leu344Val)
c.1033C>G (p.Leu345Val)
c.229C>G (p.Leu77Val)
2g.233767885C>TCA351073040UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1024C>T (p.Leu342Phe)
c.1036C>T (p.Leu346Phe)
c.1030C>T (p.Leu344Phe)
c.1033C>T (p.Leu345Phe)
c.229C>T (p.Leu77Phe)

Number of alleles fetched