Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233767873C>A | CA431857591 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1012C>A (p.Arg338=) c.1024C>A (p.Arg342=) c.1018C>A (p.Arg340=) c.1021C>A (p.Arg341=) c.217C>A (p.Arg73=) | |
2 | g.233767873C= | CA1335895078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1012C= (p.Arg338=) c.1024C= (p.Arg342=) c.1018C= (p.Arg340=) c.1021C= (p.Arg341=) c.217C= (p.Arg73=) | |
2 | g.233767873C>G | CA351072904 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767873C>T | CA122029 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767874G>A | CA2179966 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767874G>C | CA351072912 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1013G>C (p.Arg338Pro) c.1025G>C (p.Arg342Pro) c.1019G>C (p.Arg340Pro) c.1022G>C (p.Arg341Pro) c.218G>C (p.Arg73Pro) | |
2 | g.233767874G= | CA1335895079 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1013G= (p.Arg338=) c.1025G= (p.Arg342=) c.1019G= (p.Arg340=) c.1022G= (p.Arg341=) c.218G= (p.Arg73=) | |
2 | g.233767874G>T | CA351072914 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1013G>T (p.Arg338Leu) c.1025G>T (p.Arg342Leu) c.1019G>T (p.Arg340Leu) c.1022G>T (p.Arg341Leu) c.218G>T (p.Arg73Leu) | |
2 | g.233767874_233767877delinsGACC | CA1335895080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1013_1016delinsGACC (p.Arg338=) c.1025_1028delinsGACC (p.Arg342=) c.1019_1022delinsGACC (p.Arg340=) c.1022_1025delinsGACC (p.Arg341=) c.218_221delinsGACC (p.Arg73=) | |
2 | g.233767875A>C | CA431857602 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1014A>C (p.Arg338=) c.1026A>C (p.Arg342=) c.1020A>C (p.Arg340=) c.1023A>C (p.Arg341=) c.219A>C (p.Arg73=) | |
2 | g.233767875A>G | CA431857600 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1014A>G (p.Arg338=) c.1026A>G (p.Arg342=) c.1020A>G (p.Arg340=) c.1023A>G (p.Arg341=) c.219A>G (p.Arg73=) | |
2 | g.233767875A>T | CA431857598 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1014A>T (p.Arg338=) c.1026A>T (p.Arg342=) c.1020A>T (p.Arg340=) c.1023A>T (p.Arg341=) c.219A>T (p.Arg73=) | |
2 | g.233767876_233767878del | CA540311596 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767876C>A | CA67595798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767876C= | CA1335895081 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1015C= (p.Pro339=) c.1027C= (p.Pro343=) c.1021C= (p.Pro341=) c.1024C= (p.Pro342=) c.220C= (p.Pro74=) | |
2 | g.233767876C>G | CA351072921 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1015C>G (p.Pro339Ala) c.1027C>G (p.Pro343Ala) c.1021C>G (p.Pro341Ala) c.1024C>G (p.Pro342Ala) c.220C>G (p.Pro74Ala) | |
2 | g.233767876C>T | CA351072916 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767877C>A | CA351072926 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1016C>A (p.Pro339Gln) c.1028C>A (p.Pro343Gln) c.1022C>A (p.Pro341Gln) c.1025C>A (p.Pro342Gln) c.221C>A (p.Pro74Gln) | |
2 | g.233767877C>G | CA351072929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1016C>G (p.Pro339Arg) c.1028C>G (p.Pro343Arg) c.1022C>G (p.Pro341Arg) c.1025C>G (p.Pro342Arg) c.221C>G (p.Pro74Arg) | |
2 | g.233767877C>T | CA351072941 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1016C>T (p.Pro339Leu) c.1028C>T (p.Pro343Leu) c.1022C>T (p.Pro341Leu) c.1025C>T (p.Pro342Leu) c.221C>T (p.Pro74Leu) | |
2 | g.233767878del | CA2663717204 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1017del (p.Ser340ArgfsTer23) c.1029del (p.Ser344ArgfsTer23) c.1023del (p.Ser342ArgfsTer23) c.1026del (p.Ser343ArgfsTer23) c.222del (p.Ser75ArgfsTer23) | gnomAD v4 |
2 | g.233767878A= | CA1335895082 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1017A= (p.Pro339=) c.1029A= (p.Pro343=) c.1023A= (p.Pro341=) c.1026A= (p.Pro342=) c.222A= (p.Pro74=) | |
2 | g.233767878A>C | CA431857618 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1017A>C (p.Pro339=) c.1029A>C (p.Pro343=) c.1023A>C (p.Pro341=) c.1026A>C (p.Pro342=) c.222A>C (p.Pro74=) | |
2 | g.233767878A>G | CA431857616 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767878A>T | CA2179967 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767879T>A | CA351072948 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1018T>A (p.Ser340Thr) c.1030T>A (p.Ser344Thr) c.1024T>A (p.Ser342Thr) c.1027T>A (p.Ser343Thr) c.223T>A (p.Ser75Thr) | |
2 | g.233767879T>C | CA351072950 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767879T>G | CA351072975 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1018T>G (p.Ser340Ala) c.1030T>G (p.Ser344Ala) c.1024T>G (p.Ser342Ala) c.1027T>G (p.Ser343Ala) c.223T>G (p.Ser75Ala) | |
2 | g.233767880C>A | CA2179969 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767880C= | CA1335895083 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1019C= (p.Ser340=) c.1031C= (p.Ser344=) c.1025C= (p.Ser342=) c.1028C= (p.Ser343=) c.224C= (p.Ser75=) | |
2 | g.233767880C>G | CA351072986 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767880C>T | CA2179968 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767881G>A | CA431857631 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767881G>C | CA431857633 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1020G>C (p.Ser340=) c.1032G>C (p.Ser344=) c.1026G>C (p.Ser342=) c.1029G>C (p.Ser343=) c.225G>C (p.Ser75=) | |
2 | g.233767881G= | CA1335895084 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1020G= (p.Ser340=) c.1032G= (p.Ser344=) c.1026G= (p.Ser342=) c.1029G= (p.Ser343=) c.225G= (p.Ser75=) | |
2 | g.233767881G>T | CA431857630 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767882A>C | CA351073009 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1021A>C (p.Asn341His) c.1033A>C (p.Asn345His) c.1027A>C (p.Asn343His) c.1030A>C (p.Asn344His) c.226A>C (p.Asn76His) | |
2 | g.233767882A>G | CA351073014 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1021A>G (p.Asn341Asp) c.1033A>G (p.Asn345Asp) c.1027A>G (p.Asn343Asp) c.1030A>G (p.Asn344Asp) c.226A>G (p.Asn76Asp) | |
2 | g.233767882A>T | CA351073017 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1021A>T (p.Asn341Tyr) c.1033A>T (p.Asn345Tyr) c.1027A>T (p.Asn343Tyr) c.1030A>T (p.Asn344Tyr) c.226A>T (p.Asn76Tyr) | |
2 | g.233767883A= | CA1335895085 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1022A= (p.Asn341=) c.1034A= (p.Asn345=) c.1028A= (p.Asn343=) c.1031A= (p.Asn344=) c.227A= (p.Asn76=) | |
2 | g.233767883A>C | CA351073022 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1022A>C (p.Asn341Thr) c.1034A>C (p.Asn345Thr) c.1028A>C (p.Asn343Thr) c.1031A>C (p.Asn344Thr) c.227A>C (p.Asn76Thr) | |
2 | g.233767883A>G | CA351073020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767883A>T | CA351073021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1022A>T (p.Asn341Ile) c.1034A>T (p.Asn345Ile) c.1028A>T (p.Asn343Ile) c.1031A>T (p.Asn344Ile) c.227A>T (p.Asn76Ile) | |
2 | g.233767884T>A | CA2179970 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767884T>C | CA431857644 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767884T>G | CA351073034 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1023T>G (p.Asn341Lys) c.1035T>G (p.Asn345Lys) c.1029T>G (p.Asn343Lys) c.1032T>G (p.Asn344Lys) c.228T>G (p.Asn76Lys) | |
2 | g.233767884T= | CA1335895086 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1023T= (p.Asn341=) c.1035T= (p.Asn345=) c.1029T= (p.Asn343=) c.1032T= (p.Asn344=) c.228T= (p.Asn76=) | |
2 | g.233767885C>A | CA351073037 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1024C>A (p.Leu342Ile) c.1036C>A (p.Leu346Ile) c.1030C>A (p.Leu344Ile) c.1033C>A (p.Leu345Ile) c.229C>A (p.Leu77Ile) | |
2 | g.233767885C>G | CA351073038 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1024C>G (p.Leu342Val) c.1036C>G (p.Leu346Val) c.1030C>G (p.Leu344Val) c.1033C>G (p.Leu345Val) c.229C>G (p.Leu77Val) | |
2 | g.233767885C>T | CA351073040 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1024C>T (p.Leu342Phe) c.1036C>T (p.Leu346Phe) c.1030C>T (p.Leu344Phe) c.1033C>T (p.Leu345Phe) c.229C>T (p.Leu77Phe) |