Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.233767886T>ACA351073045UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1025T>A (p.Leu342His)
c.1037T>A (p.Leu346His)
c.1031T>A (p.Leu344His)
c.1034T>A (p.Leu345His)
c.230T>A (p.Leu77His)
2g.233767886T>CCA351073063UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1025T>C (p.Leu342Pro)
c.1037T>C (p.Leu346Pro)
c.1031T>C (p.Leu344Pro)
c.1034T>C (p.Leu345Pro)
c.230T>C (p.Leu77Pro)
dbSNP
2g.233767886T>GCA351073067UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1025T>G (p.Leu342Arg)
c.1037T>G (p.Leu346Arg)
c.1031T>G (p.Leu344Arg)
c.1034T>G (p.Leu345Arg)
c.230T>G (p.Leu77Arg)
2g.233767886T=CA1335895087UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1025T= (p.Leu342=)
c.1037T= (p.Leu346=)
c.1031T= (p.Leu344=)
c.1034T= (p.Leu345=)
c.230T= (p.Leu77=)
2g.233767887T>ACA431857652UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1026T>A (p.Leu342=)
c.1038T>A (p.Leu346=)
c.1032T>A (p.Leu344=)
c.1035T>A (p.Leu345=)
c.231T>A (p.Leu77=)
2g.233767887T>CCA431857653UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1026T>C (p.Leu342=)
c.1038T>C (p.Leu346=)
c.1032T>C (p.Leu344=)
c.1035T>C (p.Leu345=)
c.231T>C (p.Leu77=)
2g.233767887T>GCA431857655UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1026T>G (p.Leu342=)
c.1038T>G (p.Leu346=)
c.1032T>G (p.Leu344=)
c.1035T>G (p.Leu345=)
c.231T>G (p.Leu77=)
dbSNP
2g.233767887T=CA1335895088UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1026T= (p.Leu342=)
c.1038T= (p.Leu346=)
c.1032T= (p.Leu344=)
c.1035T= (p.Leu345=)
c.231T= (p.Leu77=)
2g.233767888G>ACA2179972UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1027G>A (p.Ala343Thr)
c.1039G>A (p.Ala347Thr)
c.1033G>A (p.Ala345Thr)
c.1036G>A (p.Ala346Thr)
c.232G>A (p.Ala78Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767888G>CCA351073071UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1027G>C (p.Ala343Pro)
c.1039G>C (p.Ala347Pro)
c.1033G>C (p.Ala345Pro)
c.1036G>C (p.Ala346Pro)
c.232G>C (p.Ala78Pro)
2g.233767888G=CA1335895089UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1027G= (p.Ala343=)
c.1039G= (p.Ala347=)
c.1033G= (p.Ala345=)
c.1036G= (p.Ala346=)
c.232G= (p.Ala78=)
2g.233767888G>TCA2179971UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1027G>T (p.Ala343Ser)
c.1039G>T (p.Ala347Ser)
c.1033G>T (p.Ala345Ser)
c.1036G>T (p.Ala346Ser)
c.232G>T (p.Ala78Ser)
dbSNP ExAC gnomAD v2
2g.233767888dupCA2663717218UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1027dup (p.Ala343GlyfsTer8)
c.1039dup (p.Ala347GlyfsTer8)
c.1033dup (p.Ala345GlyfsTer8)
c.1036dup (p.Ala346GlyfsTer8)
c.232dup (p.Ala78GlyfsTer8)
gnomAD v4
2g.233767889C>ACA351073088UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1028C>A (p.Ala343Glu)
c.1040C>A (p.Ala347Glu)
c.1034C>A (p.Ala345Glu)
c.1037C>A (p.Ala346Glu)
c.233C>A (p.Ala78Glu)
gnomAD v4
2g.233767889C=CA1335895090UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1028C= (p.Ala343=)
c.1040C= (p.Ala347=)
c.1034C= (p.Ala345=)
c.1037C= (p.Ala346=)
c.233C= (p.Ala78=)
2g.233767889C>GCA351073084UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1028C>G (p.Ala343Gly)
c.1040C>G (p.Ala347Gly)
c.1034C>G (p.Ala345Gly)
c.1037C>G (p.Ala346Gly)
c.233C>G (p.Ala78Gly)
2g.233767889C>TCA2179973UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1028C>T (p.Ala343Val)
c.1040C>T (p.Ala347Val)
c.1034C>T (p.Ala345Val)
c.1037C>T (p.Ala346Val)
c.233C>T (p.Ala78Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767890G>ACA2179974UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1029G>A (p.Ala343=)
c.1041G>A (p.Ala347=)
c.1035G>A (p.Ala345=)
c.1038G>A (p.Ala346=)
c.234G>A (p.Ala78=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767890G>CCA431857667UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1029G>C (p.Ala343=)
c.1041G>C (p.Ala347=)
c.1035G>C (p.Ala345=)
c.1038G>C (p.Ala346=)
c.234G>C (p.Ala78=)
gnomAD v4
2g.233767890G=CA1335895091UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1029G= (p.Ala343=)
c.1041G= (p.Ala347=)
c.1035G= (p.Ala345=)
c.1038G= (p.Ala346=)
c.234G= (p.Ala78=)
2g.233767890G>TCA431857669UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1029G>T (p.Ala343=)
c.1041G>T (p.Ala347=)
c.1035G>T (p.Ala345=)
c.1038G>T (p.Ala346=)
c.234G>T (p.Ala78=)
dbSNP gnomAD v2 gnomAD v4
2g.233767891A>CCA351073095UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1030A>C (p.Asn344His)
c.1042A>C (p.Asn348His)
c.1036A>C (p.Asn346His)
c.1039A>C (p.Asn347His)
c.235A>C (p.Asn79His)
2g.233767891A>GCA351073093UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1030A>G (p.Asn344Asp)
c.1042A>G (p.Asn348Asp)
c.1036A>G (p.Asn346Asp)
c.1039A>G (p.Asn347Asp)
c.235A>G (p.Asn79Asp)
2g.233767891A>TCA351073094UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1030A>T (p.Asn344Tyr)
c.1042A>T (p.Asn348Tyr)
c.1036A>T (p.Asn346Tyr)
c.1039A>T (p.Asn347Tyr)
c.235A>T (p.Asn79Tyr)
2g.233767892A>CCA351073097UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1031A>C (p.Asn344Thr)
c.1043A>C (p.Asn348Thr)
c.1037A>C (p.Asn346Thr)
c.1040A>C (p.Asn347Thr)
c.236A>C (p.Asn79Thr)
2g.233767892A>GCA351073103UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1031A>G (p.Asn344Ser)
c.1043A>G (p.Asn348Ser)
c.1037A>G (p.Asn346Ser)
c.1040A>G (p.Asn347Ser)
c.236A>G (p.Asn79Ser)
2g.233767892A>TCA351073107UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1031A>T (p.Asn344Ile)
c.1043A>T (p.Asn348Ile)
c.1037A>T (p.Asn346Ile)
c.1040A>T (p.Asn347Ile)
c.236A>T (p.Asn79Ile)
2g.233767893C>ACA351073110UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1032C>A (p.Asn344Lys)
c.1044C>A (p.Asn348Lys)
c.1038C>A (p.Asn346Lys)
c.1041C>A (p.Asn347Lys)
c.237C>A (p.Asn79Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767893C=CA1335895093UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1032C= (p.Asn344=)
c.1044C= (p.Asn348=)
c.1038C= (p.Asn346=)
c.1041C= (p.Asn347=)
c.237C= (p.Asn79=)
2g.233767893C>GCA351073111UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1032C>G (p.Asn344Lys)
c.1044C>G (p.Asn348Lys)
c.1038C>G (p.Asn346Lys)
c.1041C>G (p.Asn347Lys)
c.237C>G (p.Asn79Lys)
2g.233767893C>TCA431857679UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1032C>T (p.Asn344=)
c.1044C>T (p.Asn348=)
c.1038C>T (p.Asn346=)
c.1041C>T (p.Asn347=)
c.237C>T (p.Asn79=)
2g.233767893_233767894delinsCACA1335895092UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1032_1033delinsCA (p.Asn344=)
c.1044_1045delinsCA (p.Asn348=)
c.1038_1039delinsCA (p.Asn346=)
c.1041_1042delinsCA (p.Asn347=)
c.237_238delinsCA (p.Asn79=)
2g.233767894A>CCA351073112UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1033A>C (p.Asn345His)
c.1045A>C (p.Asn349His)
c.1039A>C (p.Asn347His)
c.1042A>C (p.Asn348His)
c.238A>C (p.Asn80His)
2g.233767894A>GCA351073113UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1033A>G (p.Asn345Asp)
c.1045A>G (p.Asn349Asp)
c.1039A>G (p.Asn347Asp)
c.1042A>G (p.Asn348Asp)
c.238A>G (p.Asn80Asp)
2g.233767894A>TCA351073117UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1033A>T (p.Asn345Tyr)
c.1045A>T (p.Asn349Tyr)
c.1039A>T (p.Asn347Tyr)
c.1042A>T (p.Asn348Tyr)
c.238A>T (p.Asn80Tyr)
2g.233767895delCA2179975UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1034del (p.Asn345ThrfsTer18)
c.1046del (p.Asn349ThrfsTer18)
c.1040del (p.Asn347ThrfsTer18)
c.1043del (p.Asn348ThrfsTer18)
c.239del (p.Asn80ThrfsTer18)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767895A>CCA351073161UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1034A>C (p.Asn345Thr)
c.1046A>C (p.Asn349Thr)
c.1040A>C (p.Asn347Thr)
c.1043A>C (p.Asn348Thr)
c.239A>C (p.Asn80Thr)
2g.233767895A>GCA351073166UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1034A>G (p.Asn345Ser)
c.1046A>G (p.Asn349Ser)
c.1040A>G (p.Asn347Ser)
c.1043A>G (p.Asn348Ser)
c.239A>G (p.Asn80Ser)
2g.233767895A>TCA351073170UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1034A>T (p.Asn345Ile)
c.1046A>T (p.Asn349Ile)
c.1040A>T (p.Asn347Ile)
c.1043A>T (p.Asn348Ile)
c.239A>T (p.Asn80Ile)
2g.233767896C>ACA351073174UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1035C>A (p.Asn345Lys)
c.1047C>A (p.Asn349Lys)
c.1041C>A (p.Asn347Lys)
c.1044C>A (p.Asn348Lys)
c.240C>A (p.Asn80Lys)
2g.233767896C=CA1335895094UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1035C= (p.Asn345=)
c.1047C= (p.Asn349=)
c.1041C= (p.Asn347=)
c.1044C= (p.Asn348=)
c.240C= (p.Asn80=)
2g.233767896C>GCA351073173UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1035C>G (p.Asn345Lys)
c.1047C>G (p.Asn349Lys)
c.1041C>G (p.Asn347Lys)
c.1044C>G (p.Asn348Lys)
c.240C>G (p.Asn80Lys)
2g.233767896C>TCA431857692UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1035C>T (p.Asn345=)
c.1047C>T (p.Asn349=)
c.1041C>T (p.Asn347=)
c.1044C>T (p.Asn348=)
c.240C>T (p.Asn80=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767897A>CCA351073175UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1036A>C (p.Thr346Pro)
c.1048A>C (p.Thr350Pro)
c.1042A>C (p.Thr348Pro)
c.1045A>C (p.Thr349Pro)
c.241A>C (p.Thr81Pro)
2g.233767897A>GCA351073176UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1036A>G (p.Thr346Ala)
c.1048A>G (p.Thr350Ala)
c.1042A>G (p.Thr348Ala)
c.1045A>G (p.Thr349Ala)
c.241A>G (p.Thr81Ala)
gnomAD v4
2g.233767897A>TCA351073179UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1036A>T (p.Thr346Ser)
c.1048A>T (p.Thr350Ser)
c.1042A>T (p.Thr348Ser)
c.1045A>T (p.Thr349Ser)
c.241A>T (p.Thr81Ser)
2g.233767898C>ACA351073185UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1037C>A (p.Thr346Lys)
c.1049C>A (p.Thr350Lys)
c.1043C>A (p.Thr348Lys)
c.1046C>A (p.Thr349Lys)
c.242C>A (p.Thr81Lys)
dbSNP gnomAD v2 gnomAD v4
2g.233767898C=CA1335895095UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1037C= (p.Thr346=)
c.1049C= (p.Thr350=)
c.1043C= (p.Thr348=)
c.1046C= (p.Thr349=)
c.242C= (p.Thr81=)
2g.233767898C>GCA351073192UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1037C>G (p.Thr346Arg)
c.1049C>G (p.Thr350Arg)
c.1043C>G (p.Thr348Arg)
c.1046C>G (p.Thr349Arg)
c.242C>G (p.Thr81Arg)
2g.233767898C>TCA2179976UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1037C>T (p.Thr346Met)
c.1049C>T (p.Thr350Met)
c.1043C>T (p.Thr348Met)
c.1046C>T (p.Thr349Met)
c.242C>T (p.Thr81Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767899delCA2586965620UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1038del (p.Ile347TyrfsTer16)
c.1050del (p.Ile351TyrfsTer16)
c.1044del (p.Ile349TyrfsTer16)
c.1047del (p.Ile350TyrfsTer16)
c.243del (p.Ile82TyrfsTer16)
2g.233767899G>ACA2179977UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1038G>A (p.Thr346=)
c.1050G>A (p.Thr350=)
c.1044G>A (p.Thr348=)
c.1047G>A (p.Thr349=)
c.243G>A (p.Thr81=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767899G>CCA431857706UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1038G>C (p.Thr346=)
c.1050G>C (p.Thr350=)
c.1044G>C (p.Thr348=)
c.1047G>C (p.Thr349=)
c.243G>C (p.Thr81=)
2g.233767899G=CA1335895096UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1038G= (p.Thr346=)
c.1050G= (p.Thr350=)
c.1044G= (p.Thr348=)
c.1047G= (p.Thr349=)
c.243G= (p.Thr81=)
2g.233767899G>TCA431857704UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1038G>T (p.Thr346=)
c.1050G>T (p.Thr350=)
c.1044G>T (p.Thr348=)
c.1047G>T (p.Thr349=)
c.243G>T (p.Thr81=)
gnomAD v4
2g.233767900A>CCA351073201UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1039A>C (p.Ile347Leu)
c.1051A>C (p.Ile351Leu)
c.1045A>C (p.Ile349Leu)
c.1048A>C (p.Ile350Leu)
c.244A>C (p.Ile82Leu)
2g.233767900A>GCA351073208UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1039A>G (p.Ile347Val)
c.1051A>G (p.Ile351Val)
c.1045A>G (p.Ile349Val)
c.1048A>G (p.Ile350Val)
c.244A>G (p.Ile82Val)
2g.233767900A>TCA351073205UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1039A>T (p.Ile347Leu)
c.1051A>T (p.Ile351Leu)
c.1045A>T (p.Ile349Leu)
c.1048A>T (p.Ile350Leu)
c.244A>T (p.Ile82Leu)
2g.233767901T>ACA351073223UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1040T>A (p.Ile347Lys)
c.1052T>A (p.Ile351Lys)
c.1046T>A (p.Ile349Lys)
c.1049T>A (p.Ile350Lys)
c.245T>A (p.Ile82Lys)
2g.233767901T>CCA351073227UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1040T>C (p.Ile347Thr)
c.1052T>C (p.Ile351Thr)
c.1046T>C (p.Ile349Thr)
c.1049T>C (p.Ile350Thr)
c.245T>C (p.Ile82Thr)
gnomAD v4
2g.233767901T>GCA351073230UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1040T>G (p.Ile347Arg)
c.1052T>G (p.Ile351Arg)
c.1046T>G (p.Ile349Arg)
c.1049T>G (p.Ile350Arg)
c.245T>G (p.Ile82Arg)
2g.233767902A=CA1335895097UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1041A= (p.Ile347=)
c.1053A= (p.Ile351=)
c.1047A= (p.Ile349=)
c.1050A= (p.Ile350=)
c.246A= (p.Ile82=)
2g.233767902A>CCA431857717UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1041A>C (p.Ile347=)
c.1053A>C (p.Ile351=)
c.1047A>C (p.Ile349=)
c.1050A>C (p.Ile350=)
c.246A>C (p.Ile82=)
2g.233767902A>GCA351073235UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1041A>G (p.Ile347Met)
c.1053A>G (p.Ile351Met)
c.1047A>G (p.Ile349Met)
c.1050A>G (p.Ile350Met)
c.246A>G (p.Ile82Met)
dbSNP
2g.233767902A>TCA431857715UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1041A>T (p.Ile347=)
c.1053A>T (p.Ile351=)
c.1047A>T (p.Ile349=)
c.1050A>T (p.Ile350=)
c.246A>T (p.Ile82=)
2g.233767903C>ACA351073239UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1042C>A (p.Leu348Ile)
c.1054C>A (p.Leu352Ile)
c.1048C>A (p.Leu350Ile)
c.1051C>A (p.Leu351Ile)
c.247C>A (p.Leu83Ile)
2g.233767903C=CA1335895098UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1042C= (p.Leu348=)
c.1054C= (p.Leu352=)
c.1048C= (p.Leu350=)
c.1051C= (p.Leu351=)
c.247C= (p.Leu83=)
2g.233767903C>GCA351073261UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1042C>G (p.Leu348Val)
c.1054C>G (p.Leu352Val)
c.1048C>G (p.Leu350Val)
c.1051C>G (p.Leu351Val)
c.247C>G (p.Leu83Val)
dbSNP gnomAD v3 gnomAD v4
2g.233767903C>TCA2179978UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1042C>T (p.Leu348Phe)
c.1054C>T (p.Leu352Phe)
c.1048C>T (p.Leu350Phe)
c.1051C>T (p.Leu351Phe)
c.247C>T (p.Leu83Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767904T>ACA351073265UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1043T>A (p.Leu348His)
c.1055T>A (p.Leu352His)
c.1049T>A (p.Leu350His)
c.1052T>A (p.Leu351His)
c.248T>A (p.Leu83His)
2g.233767904T>CCA351073266UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1043T>C (p.Leu348Pro)
c.1055T>C (p.Leu352Pro)
c.1049T>C (p.Leu350Pro)
c.1052T>C (p.Leu351Pro)
c.248T>C (p.Leu83Pro)
2g.233767904T>GCA351073268UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1043T>G (p.Leu348Arg)
c.1055T>G (p.Leu352Arg)
c.1049T>G (p.Leu350Arg)
c.1052T>G (p.Leu351Arg)
c.248T>G (p.Leu83Arg)
2g.233767906_233767908delCA2663717246UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1045_1047del (p.Val349del)
c.1057_1059del (p.Val353del)
c.1051_1053del (p.Val351del)
c.1054_1056del (p.Val352del)
c.250_252del (p.Val84del)
gnomAD v4
2g.233767905T>ACA431857731UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1044T>A (p.Leu348=)
c.1056T>A (p.Leu352=)
c.1050T>A (p.Leu350=)
c.1053T>A (p.Leu351=)
c.249T>A (p.Leu83=)
2g.233767905T>CCA431857727UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1044T>C (p.Leu348=)
c.1056T>C (p.Leu352=)
c.1050T>C (p.Leu350=)
c.1053T>C (p.Leu351=)
c.249T>C (p.Leu83=)
2g.233767905T>GCA431857728UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1044T>G (p.Leu348=)
c.1056T>G (p.Leu352=)
c.1050T>G (p.Leu350=)
c.1053T>G (p.Leu351=)
c.249T>G (p.Leu83=)
2g.233767906G>ACA351073273UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1045G>A (p.Val349Ile)
c.1057G>A (p.Val353Ile)
c.1051G>A (p.Val351Ile)
c.1054G>A (p.Val352Ile)
c.250G>A (p.Val84Ile)
2g.233767906G>CCA351073274UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1045G>C (p.Val349Leu)
c.1057G>C (p.Val353Leu)
c.1051G>C (p.Val351Leu)
c.1054G>C (p.Val352Leu)
c.250G>C (p.Val84Leu)
2g.233767906G>TCA351073275UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1045G>T (p.Val349Phe)
c.1057G>T (p.Val353Phe)
c.1051G>T (p.Val351Phe)
c.1054G>T (p.Val352Phe)
c.250G>T (p.Val84Phe)
2g.233767907T>ACA351073276UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1046T>A (p.Val349Asp)
c.1058T>A (p.Val353Asp)
c.1052T>A (p.Val351Asp)
c.1055T>A (p.Val352Asp)
c.251T>A (p.Val84Asp)
2g.233767907T>CCA351073277UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1046T>C (p.Val349Ala)
c.1058T>C (p.Val353Ala)
c.1052T>C (p.Val351Ala)
c.1055T>C (p.Val352Ala)
c.251T>C (p.Val84Ala)
dbSNP
2g.233767907T>GCA351073278UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1046T>G (p.Val349Gly)
c.1058T>G (p.Val353Gly)
c.1052T>G (p.Val351Gly)
c.1055T>G (p.Val352Gly)
c.251T>G (p.Val84Gly)
2g.233767907T=CA1335895099UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1046T= (p.Val349=)
c.1058T= (p.Val353=)
c.1052T= (p.Val351=)
c.1055T= (p.Val352=)
c.251T= (p.Val84=)
2g.233767908T>ACA431857741UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1047T>A (p.Val349=)
c.1059T>A (p.Val353=)
c.1053T>A (p.Val351=)
c.1056T>A (p.Val352=)
c.252T>A (p.Val84=)
2g.233767908T>CCA431857740UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1047T>C (p.Val349=)
c.1059T>C (p.Val353=)
c.1053T>C (p.Val351=)
c.1056T>C (p.Val352=)
c.252T>C (p.Val84=)
gnomAD v4
2g.233767908T>GCA431857737UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1047T>G (p.Val349=)
c.1059T>G (p.Val353=)
c.1053T>G (p.Val351=)
c.1056T>G (p.Val352=)
c.252T>G (p.Val84=)
gnomAD v4
2g.233767909A>CCA351073280UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1048A>C (p.Lys350Gln)
c.1060A>C (p.Lys354Gln)
c.1054A>C (p.Lys352Gln)
c.1057A>C (p.Lys353Gln)
c.253A>C (p.Lys85Gln)
2g.233767909A>GCA351073283UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1048A>G (p.Lys350Glu)
c.1060A>G (p.Lys354Glu)
c.1054A>G (p.Lys352Glu)
c.1057A>G (p.Lys353Glu)
c.253A>G (p.Lys85Glu)
2g.233767909A>TCA351073285UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1048A>T (p.Lys350Ter)
c.1060A>T (p.Lys354Ter)
c.1054A>T (p.Lys352Ter)
c.1057A>T (p.Lys353Ter)
c.253A>T (p.Lys85Ter)
2g.233767910A>CCA351073291UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1049A>C (p.Lys350Thr)
c.1061A>C (p.Lys354Thr)
c.1055A>C (p.Lys352Thr)
c.1058A>C (p.Lys353Thr)
c.254A>C (p.Lys85Thr)
2g.233767910A>GCA351073289UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1049A>G (p.Lys350Arg)
c.1061A>G (p.Lys354Arg)
c.1055A>G (p.Lys352Arg)
c.1058A>G (p.Lys353Arg)
c.254A>G (p.Lys85Arg)
2g.233767910A>TCA351073290UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1049A>T (p.Lys350Met)
c.1061A>T (p.Lys354Met)
c.1055A>T (p.Lys352Met)
c.1058A>T (p.Lys353Met)
c.254A>T (p.Lys85Met)
2g.233767911G>ACA2179979UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1050G>A (p.Lys350=)
c.1062G>A (p.Lys354=)
c.1056G>A (p.Lys352=)
c.1059G>A (p.Lys353=)
c.255G>A (p.Lys85=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767911G>CCA351073295UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1050G>C (p.Lys350Asn)
c.1062G>C (p.Lys354Asn)
c.1056G>C (p.Lys352Asn)
c.1059G>C (p.Lys353Asn)
c.255G>C (p.Lys85Asn)
2g.233767911G=CA1335895100UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1050G= (p.Lys350=)
c.1062G= (p.Lys354=)
c.1056G= (p.Lys352=)
c.1059G= (p.Lys353=)
c.255G= (p.Lys85=)
2g.233767911G>TCA351073298UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1050G>T (p.Lys350Asn)
c.1062G>T (p.Lys354Asn)
c.1056G>T (p.Lys352Asn)
c.1059G>T (p.Lys353Asn)
c.255G>T (p.Lys85Asn)
2g.233767912T>ACA351073300UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1051T>A (p.Trp351Arg)
c.1063T>A (p.Trp355Arg)
c.1057T>A (p.Trp353Arg)
c.1060T>A (p.Trp354Arg)
c.256T>A (p.Trp86Arg)
ClinVar dbSNP gnomAD v4
2g.233767912T>CCA351073306UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1051T>C (p.Trp351Arg)
c.1063T>C (p.Trp355Arg)
c.1057T>C (p.Trp353Arg)
c.1060T>C (p.Trp354Arg)
c.256T>C (p.Trp86Arg)
2g.233767912T>GCA351073312UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1051T>G (p.Trp351Gly)
c.1063T>G (p.Trp355Gly)
c.1057T>G (p.Trp353Gly)
c.1060T>G (p.Trp354Gly)
c.256T>G (p.Trp86Gly)
ClinVar
2g.233767912T=CA1335895101UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1051T= (p.Trp351=)
c.1063T= (p.Trp355=)
c.1057T= (p.Trp353=)
c.1060T= (p.Trp354=)
c.256T= (p.Trp86=)
2g.233767913G>ACA351073319UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1052G>A (p.Trp351Ter)
c.1064G>A (p.Trp355Ter)
c.1058G>A (p.Trp353Ter)
c.1061G>A (p.Trp354Ter)
c.257G>A (p.Trp86Ter)
2g.233767913G>CCA351073321UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1052G>C (p.Trp351Ser)
c.1064G>C (p.Trp355Ser)
c.1058G>C (p.Trp353Ser)
c.1061G>C (p.Trp354Ser)
c.257G>C (p.Trp86Ser)
2g.233767913G>TCA351073326UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1052G>T (p.Trp351Leu)
c.1064G>T (p.Trp355Leu)
c.1058G>T (p.Trp353Leu)
c.1061G>T (p.Trp354Leu)
c.257G>T (p.Trp86Leu)
2g.233767914G>ACA351073327UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1053G>A (p.Trp351Ter)
c.1065G>A (p.Trp355Ter)
c.1059G>A (p.Trp353Ter)
c.1062G>A (p.Trp354Ter)
c.258G>A (p.Trp86Ter)
2g.233767914G>CCA351073328UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1053G>C (p.Trp351Cys)
c.1065G>C (p.Trp355Cys)
c.1059G>C (p.Trp353Cys)
c.1062G>C (p.Trp354Cys)
c.258G>C (p.Trp86Cys)
2g.233767914G>TCA351073329UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1053G>T (p.Trp351Cys)
c.1065G>T (p.Trp355Cys)
c.1059G>T (p.Trp353Cys)
c.1062G>T (p.Trp354Cys)
c.258G>T (p.Trp86Cys)
2g.233767915C>ACA351073332UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1054C>A (p.Leu352Ile)
c.1066C>A (p.Leu356Ile)
c.1060C>A (p.Leu354Ile)
c.1063C>A (p.Leu355Ile)
c.259C>A (p.Leu87Ile)
2g.233767915C>GCA351073335UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1054C>G (p.Leu352Val)
c.1066C>G (p.Leu356Val)
c.1060C>G (p.Leu354Val)
c.1063C>G (p.Leu355Val)
c.259C>G (p.Leu87Val)
2g.233767915C>TCA431857770UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1054C>T (p.Leu352=)
c.1066C>T (p.Leu356=)
c.1060C>T (p.Leu354=)
c.1063C>T (p.Leu355=)
c.259C>T (p.Leu87=)
2g.233767916T>ACA351073339UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1055T>A (p.Leu352Gln)
c.1067T>A (p.Leu356Gln)
c.1061T>A (p.Leu354Gln)
c.1064T>A (p.Leu355Gln)
c.260T>A (p.Leu87Gln)
dbSNP gnomAD v4
2g.233767916T>CCA351073348UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1055T>C (p.Leu352Pro)
c.1067T>C (p.Leu356Pro)
c.1061T>C (p.Leu354Pro)
c.1064T>C (p.Leu355Pro)
c.260T>C (p.Leu87Pro)
2g.233767916T>GCA351073344UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1055T>G (p.Leu352Arg)
c.1067T>G (p.Leu356Arg)
c.1061T>G (p.Leu354Arg)
c.1064T>G (p.Leu355Arg)
c.260T>G (p.Leu87Arg)
2g.233767916T=CA1335895102UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1055T= (p.Leu352=)
c.1067T= (p.Leu356=)
c.1061T= (p.Leu354=)
c.1064T= (p.Leu355=)
c.260T= (p.Leu87=)
2g.233767917A=CA1335895103UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1056A= (p.Leu352=)
c.1068A= (p.Leu356=)
c.1062A= (p.Leu354=)
c.1065A= (p.Leu355=)
c.261A= (p.Leu87=)
2g.233767917A>CCA431857778UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1056A>C (p.Leu352=)
c.1068A>C (p.Leu356=)
c.1062A>C (p.Leu354=)
c.1065A>C (p.Leu355=)
c.261A>C (p.Leu87=)
2g.233767917A>GCA2179980UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1056A>G (p.Leu352=)
c.1068A>G (p.Leu356=)
c.1062A>G (p.Leu354=)
c.1065A>G (p.Leu355=)
c.261A>G (p.Leu87=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767917A>TCA431857773UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1056A>T (p.Leu352=)
c.1068A>T (p.Leu356=)
c.1062A>T (p.Leu354=)
c.1065A>T (p.Leu355=)
c.261A>T (p.Leu87=)
2g.233767918C>ACA2179981UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1057C>A (p.Pro353Thr)
c.1069C>A (p.Pro357Thr)
c.1063C>A (p.Pro355Thr)
c.1066C>A (p.Pro356Thr)
c.262C>A (p.Pro88Thr)
dbSNP ExAC gnomAD v2
2g.233767918C=CA1335895104UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1057C= (p.Pro353=)
c.1069C= (p.Pro357=)
c.1063C= (p.Pro355=)
c.1066C= (p.Pro356=)
c.262C= (p.Pro88=)
2g.233767918C>GCA351073354UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1057C>G (p.Pro353Ala)
c.1069C>G (p.Pro357Ala)
c.1063C>G (p.Pro355Ala)
c.1066C>G (p.Pro356Ala)
c.262C>G (p.Pro88Ala)
2g.233767918C>TCA351073356UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1057C>T (p.Pro353Ser)
c.1069C>T (p.Pro357Ser)
c.1063C>T (p.Pro355Ser)
c.1066C>T (p.Pro356Ser)
c.262C>T (p.Pro88Ser)
2g.233767921dupCA2586965621UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1060dup (p.Gln354ProfsTer24)
c.1072dup (p.Gln358ProfsTer24)
c.1066dup (p.Gln356ProfsTer24)
c.1069dup (p.Gln357ProfsTer24)
c.265dup (p.Gln89ProfsTer24)
2g.233767919C>ACA351073360UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1058C>A (p.Pro353His)
c.1070C>A (p.Pro357His)
c.1064C>A (p.Pro355His)
c.1067C>A (p.Pro356His)
c.263C>A (p.Pro88His)
2g.233767919C>GCA351073361UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1058C>G (p.Pro353Arg)
c.1070C>G (p.Pro357Arg)
c.1064C>G (p.Pro355Arg)
c.1067C>G (p.Pro356Arg)
c.263C>G (p.Pro88Arg)
2g.233767919C>TCA351073362UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1058C>T (p.Pro353Leu)
c.1070C>T (p.Pro357Leu)
c.1064C>T (p.Pro355Leu)
c.1067C>T (p.Pro356Leu)
c.263C>T (p.Pro88Leu)
2g.233767920C>ACA2179982UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1059C>A (p.Pro353=)
c.1071C>A (p.Pro357=)
c.1065C>A (p.Pro355=)
c.1068C>A (p.Pro356=)
c.264C>A (p.Pro88=)
dbSNP ExAC gnomAD v2
2g.233767920C=CA1335895105UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1059C= (p.Pro353=)
c.1071C= (p.Pro357=)
c.1065C= (p.Pro355=)
c.1068C= (p.Pro356=)
c.264C= (p.Pro88=)
2g.233767920C>GCA431857792UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1059C>G (p.Pro353=)
c.1071C>G (p.Pro357=)
c.1065C>G (p.Pro355=)
c.1068C>G (p.Pro356=)
c.264C>G (p.Pro88=)
2g.233767920C>TCA431857796UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1059C>T (p.Pro353=)
c.1071C>T (p.Pro357=)
c.1065C>T (p.Pro355=)
c.1068C>T (p.Pro356=)
c.264C>T (p.Pro88=)
2g.233767921C>ACA351073366UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1060C>A (p.Gln354Lys)
c.1072C>A (p.Gln358Lys)
c.1066C>A (p.Gln356Lys)
c.1069C>A (p.Gln357Lys)
c.265C>A (p.Gln89Lys)
2g.233767921C=CA1335895106UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1060C= (p.Gln354=)
c.1072C= (p.Gln358=)
c.1066C= (p.Gln356=)
c.1069C= (p.Gln357=)
c.265C= (p.Gln89=)
2g.233767921C>GCA351073367UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1060C>G (p.Gln354Glu)
c.1072C>G (p.Gln358Glu)
c.1066C>G (p.Gln356Glu)
c.1069C>G (p.Gln357Glu)
c.265C>G (p.Gln89Glu)
2g.233767921C>TCA10605065UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1060C>T (p.Gln354Ter)
c.1072C>T (p.Gln358Ter)
c.1066C>T (p.Gln356Ter)
c.1069C>T (p.Gln357Ter)
c.265C>T (p.Gln89Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767922A=CA1335895107UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1061A= (p.Gln354=)
c.1073A= (p.Gln358=)
c.1067A= (p.Gln356=)
c.1070A= (p.Gln357=)
c.266A= (p.Gln89=)
2g.233767922A>CCA351073376UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1061A>C (p.Gln354Pro)
c.1073A>C (p.Gln358Pro)
c.1067A>C (p.Gln356Pro)
c.1070A>C (p.Gln357Pro)
c.266A>C (p.Gln89Pro)
dbSNP
2g.233767922A>GCA122091UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1061A>G (p.Gln354Arg)
c.1073A>G (p.Gln358Arg)
c.1067A>G (p.Gln356Arg)
c.1070A>G (p.Gln357Arg)
c.266A>G (p.Gln89Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233767922A>TCA351073373UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1061A>T (p.Gln354Leu)
c.1073A>T (p.Gln358Leu)
c.1067A>T (p.Gln356Leu)
c.1070A>T (p.Gln357Leu)
c.266A>T (p.Gln89Leu)
2g.233767923A=CA1335895108UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1062A= (p.Gln354=)
c.1074A= (p.Gln358=)
c.1068A= (p.Gln356=)
c.1071A= (p.Gln357=)
c.267A= (p.Gln89=)
2g.233767923A>CCA351073382UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1062A>C (p.Gln354His)
c.1074A>C (p.Gln358His)
c.1068A>C (p.Gln356His)
c.1071A>C (p.Gln357His)
c.267A>C (p.Gln89His)
2g.233767923A>GCA2179983UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1062A>G (p.Gln354=)
c.1074A>G (p.Gln358=)
c.1068A>G (p.Gln356=)
c.1071A>G (p.Gln357=)
c.267A>G (p.Gln89=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767923A>TCA351073383UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1062A>T (p.Gln354His)
c.1074A>T (p.Gln358His)
c.1068A>T (p.Gln356His)
c.1071A>T (p.Gln357His)
c.267A>T (p.Gln89His)
2g.233767924A>CCA351073385UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1063A>C (p.Asn355His)
c.1075A>C (p.Asn359His)
c.1069A>C (p.Asn357His)
c.1072A>C (p.Asn358His)
c.268A>C (p.Asn90His)
2g.233767924A>GCA351073387UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1063A>G (p.Asn355Asp)
c.1075A>G (p.Asn359Asp)
c.1069A>G (p.Asn357Asp)
c.1072A>G (p.Asn358Asp)
c.268A>G (p.Asn90Asp)
2g.233767924A>TCA351073396UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1063A>T (p.Asn355Tyr)
c.1075A>T (p.Asn359Tyr)
c.1069A>T (p.Asn357Tyr)
c.1072A>T (p.Asn358Tyr)
c.268A>T (p.Asn90Tyr)
2g.233767925A=CA1335895109UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1064A= (p.Asn355=)
c.1076A= (p.Asn359=)
c.1070A= (p.Asn357=)
c.1073A= (p.Asn358=)
c.269A= (p.Asn90=)
2g.233767925A>CCA10607057UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1064A>C (p.Asn355Thr)
c.1076A>C (p.Asn359Thr)
c.1070A>C (p.Asn357Thr)
c.1073A>C (p.Asn358Thr)
c.269A>C (p.Asn90Thr)
ClinVar dbSNP
2g.233767925A>GCA351073405UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1064A>G (p.Asn355Ser)
c.1076A>G (p.Asn359Ser)
c.1070A>G (p.Asn357Ser)
c.1073A>G (p.Asn358Ser)
c.269A>G (p.Asn90Ser)
dbSNP gnomAD v2 gnomAD v4
2g.233767925A>TCA351073411UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1064A>T (p.Asn355Ile)
c.1076A>T (p.Asn359Ile)
c.1070A>T (p.Asn357Ile)
c.1073A>T (p.Asn358Ile)
c.269A>T (p.Asn90Ile)
2g.233767926C>ACA351073413UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1065C>A (p.Asn355Lys)
c.1077C>A (p.Asn359Lys)
c.1071C>A (p.Asn357Lys)
c.1074C>A (p.Asn358Lys)
c.270C>A (p.Asn90Lys)
2g.233767926C=CA1335895110UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1065C= (p.Asn355=)
c.1077C= (p.Asn359=)
c.1071C= (p.Asn357=)
c.1074C= (p.Asn358=)
c.270C= (p.Asn90=)
2g.233767926C>GCA351073419UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1065C>G (p.Asn355Lys)
c.1077C>G (p.Asn359Lys)
c.1071C>G (p.Asn357Lys)
c.1074C>G (p.Asn358Lys)
c.270C>G (p.Asn90Lys)
dbSNP
2g.233767926C>TCA431857844UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1065C>T (p.Asn355=)
c.1077C>T (p.Asn359=)
c.1071C>T (p.Asn357=)
c.1074C>T (p.Asn358=)
c.270C>T (p.Asn90=)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767927G>ACA2179984UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1066G>A (p.Asp356Asn)
c.1078G>A (p.Asp360Asn)
c.1072G>A (p.Asp358Asn)
c.1075G>A (p.Asp359Asn)
c.271G>A (p.Asp91Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767927G>CCA351073428UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1066G>C (p.Asp356His)
c.1078G>C (p.Asp360His)
c.1072G>C (p.Asp358His)
c.1075G>C (p.Asp359His)
c.271G>C (p.Asp91His)
2g.233767927G=CA1335895111UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1066G= (p.Asp356=)
c.1078G= (p.Asp360=)
c.1072G= (p.Asp358=)
c.1075G= (p.Asp359=)
c.271G= (p.Asp91=)
2g.233767927G>TCA351073424UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1066G>T (p.Asp356Tyr)
c.1078G>T (p.Asp360Tyr)
c.1072G>T (p.Asp358Tyr)
c.1075G>T (p.Asp359Tyr)
c.271G>T (p.Asp91Tyr)
2g.233767928A>CCA351073432UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1067A>C (p.Asp356Ala)
c.1079A>C (p.Asp360Ala)
c.1073A>C (p.Asp358Ala)
c.1076A>C (p.Asp359Ala)
c.272A>C (p.Asp91Ala)
2g.233767928A>GCA351073440UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1067A>G (p.Asp356Gly)
c.1079A>G (p.Asp360Gly)
c.1073A>G (p.Asp358Gly)
c.1076A>G (p.Asp359Gly)
c.272A>G (p.Asp91Gly)
2g.233767928A>TCA351073453UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1067A>T (p.Asp356Val)
c.1079A>T (p.Asp360Val)
c.1073A>T (p.Asp358Val)
c.1076A>T (p.Asp359Val)
c.272A>T (p.Asp91Val)
2g.233767929T>ACA351073455UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1068T>A (p.Asp356Glu)
c.1080T>A (p.Asp360Glu)
c.1074T>A (p.Asp358Glu)
c.1077T>A (p.Asp359Glu)
c.273T>A (p.Asp91Glu)
gnomAD v4
2g.233767929T>CCA431857873UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1068T>C (p.Asp356=)
c.1080T>C (p.Asp360=)
c.1074T>C (p.Asp358=)
c.1077T>C (p.Asp359=)
c.273T>C (p.Asp91=)
gnomAD v4
2g.233767929T>GCA351073468UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1068T>G (p.Asp356Glu)
c.1080T>G (p.Asp360Glu)
c.1074T>G (p.Asp358Glu)
c.1077T>G (p.Asp359Glu)
c.273T>G (p.Asp91Glu)
2g.233767930C>ACA351073473UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1069C>A (p.Leu357Met)
c.1081C>A (p.Leu361Met)
c.1075C>A (p.Leu359Met)
c.1078C>A (p.Leu360Met)
c.274C>A (p.Leu92Met)
gnomAD v4
2g.233767930C>GCA351073476UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1069C>G (p.Leu357Val)
c.1081C>G (p.Leu361Val)
c.1075C>G (p.Leu359Val)
c.1078C>G (p.Leu360Val)
c.274C>G (p.Leu92Val)
2g.233767930C>TCA431857878UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1069C>T (p.Leu357=)
c.1081C>T (p.Leu361=)
c.1075C>T (p.Leu359=)
c.1078C>T (p.Leu360=)
c.274C>T (p.Leu92=)
2g.233767931T>ACA351073491UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1070T>A (p.Leu357Gln)
c.1082T>A (p.Leu361Gln)
c.1076T>A (p.Leu359Gln)
c.1079T>A (p.Leu360Gln)
c.275T>A (p.Leu92Gln)
2g.233767931T>CCA351073497UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1070T>C (p.Leu357Pro)
c.1082T>C (p.Leu361Pro)
c.1076T>C (p.Leu359Pro)
c.1079T>C (p.Leu360Pro)
c.275T>C (p.Leu92Pro)
2g.233767931T>GCA351073493UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1070T>G (p.Leu357Arg)
c.1082T>G (p.Leu361Arg)
c.1076T>G (p.Leu359Arg)
c.1079T>G (p.Leu360Arg)
c.275T>G (p.Leu92Arg)
2g.233767932G>ACA431857900UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1071G>A (p.Leu357=)
c.1083G>A (p.Leu361=)
c.1077G>A (p.Leu359=)
c.1080G>A (p.Leu360=)
c.276G>A (p.Leu92=)
2g.233767932G>CCA2179985UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1071G>C (p.Leu357=)
c.1083G>C (p.Leu361=)
c.1077G>C (p.Leu359=)
c.1080G>C (p.Leu360=)
c.276G>C (p.Leu92=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767932G=CA1335895112UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1071G= (p.Leu357=)
c.1083G= (p.Leu361=)
c.1077G= (p.Leu359=)
c.1080G= (p.Leu360=)
c.276G= (p.Leu92=)
2g.233767932G>TCA431857894UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1071G>T (p.Leu357=)
c.1083G>T (p.Leu361=)
c.1077G>T (p.Leu359=)
c.1080G>T (p.Leu360=)
c.276G>T (p.Leu92=)
2g.233767933C>ACA351073498UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1072C>A (p.Leu358Ile)
c.1084C>A (p.Leu362Ile)
c.1078C>A (p.Leu360Ile)
c.1081C>A (p.Leu361Ile)
c.277C>A (p.Leu93Ile)
2g.233767933C>GCA351073500UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1072C>G (p.Leu358Val)
c.1084C>G (p.Leu362Val)
c.1078C>G (p.Leu360Val)
c.1081C>G (p.Leu361Val)
c.277C>G (p.Leu93Val)
2g.233767933C>TCA351073502UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1072C>T (p.Leu358Phe)
c.1084C>T (p.Leu362Phe)
c.1078C>T (p.Leu360Phe)
c.1081C>T (p.Leu361Phe)
c.277C>T (p.Leu93Phe)
2g.233767934T>ACA351073505UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1073T>A (p.Leu358His)
c.1085T>A (p.Leu362His)
c.1079T>A (p.Leu360His)
c.1082T>A (p.Leu361His)
c.278T>A (p.Leu93His)
2g.233767934T>CCA351073511UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1073T>C (p.Leu358Pro)
c.1085T>C (p.Leu362Pro)
c.1079T>C (p.Leu360Pro)
c.1082T>C (p.Leu361Pro)
c.278T>C (p.Leu93Pro)
gnomAD v4
2g.233767934T>GCA351073508UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1073T>G (p.Leu358Arg)
c.1085T>G (p.Leu362Arg)
c.1079T>G (p.Leu360Arg)
c.1082T>G (p.Leu361Arg)
c.278T>G (p.Leu93Arg)
2g.233767935T>ACA431857923UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1074T>A (p.Leu358=)
c.1086T>A (p.Leu362=)
c.1080T>A (p.Leu360=)
c.1083T>A (p.Leu361=)
c.279T>A (p.Leu93=)
2g.233767935T>CCA431857920UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1074T>C (p.Leu358=)
c.1086T>C (p.Leu362=)
c.1080T>C (p.Leu360=)
c.1083T>C (p.Leu361=)
c.279T>C (p.Leu93=)
2g.233767935T>GCA431857918UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1074T>G (p.Leu358=)
c.1086T>G (p.Leu362=)
c.1080T>G (p.Leu360=)
c.1083T>G (p.Leu361=)
c.279T>G (p.Leu93=)
2g.233767936G>ACA2179986UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075G>A (p.Gly359Ser)
c.1087G>A (p.Gly363Ser)
c.1081G>A (p.Gly361Ser)
c.1084G>A (p.Gly362Ser)
c.280G>A (p.Gly94Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767936G>CCA351073517UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075G>C (p.Gly359Arg)
c.1087G>C (p.Gly363Arg)
c.1081G>C (p.Gly361Arg)
c.1084G>C (p.Gly362Arg)
c.280G>C (p.Gly94Arg)
2g.233767936G=CA1335895113UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075G= (p.Gly359=)
c.1087G= (p.Gly363=)
c.1081G= (p.Gly361=)
c.1084G= (p.Gly362=)
c.280G= (p.Gly94=)
2g.233767936G>TCA351073521UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075G>T (p.Gly359Cys)
c.1087G>T (p.Gly363Cys)
c.1081G>T (p.Gly361Cys)
c.1084G>T (p.Gly362Cys)
c.280G>T (p.Gly94Cys)
dbSNP
2g.233767937G>ACA351073527UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+1G>A (n.1075+1G>A)
c.1087+1G>A (n.1087+1G>A)
c.1081+1G>A (n.1081+1G>A)
c.1084+1G>A (n.1084+1G>A)
c.280+1G>A (n.280+1G>A)
2g.233767937G>CCA351073529UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+1G>C (n.1075+1G>C)
c.1087+1G>C (n.1087+1G>C)
c.1081+1G>C (n.1081+1G>C)
c.1084+1G>C (n.1084+1G>C)
c.280+1G>C (n.280+1G>C)
2g.233767937G=CA1335895114UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+1G= (n.1075+1G=)
c.1087+1G= (n.1087+1G=)
c.1081+1G= (n.1081+1G=)
c.1084+1G= (n.1084+1G=)
c.280+1G= (n.280+1G=)
2g.233767937G>TCA173821UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+1G>T (n.1075+1G>T)
c.1087+1G>T (n.1087+1G>T)
c.1081+1G>T (n.1081+1G>T)
c.1084+1G>T (n.1084+1G>T)
c.280+1G>T (n.280+1G>T)
ClinVar dbSNP gnomAD v4
2g.233767938T>ACA351073535UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+2T>A (n.1075+2T>A)
c.1087+2T>A (n.1087+2T>A)
c.1081+2T>A (n.1081+2T>A)
c.1084+2T>A (n.1084+2T>A)
c.280+2T>A (n.280+2T>A)
2g.233767938T>CCA351073543UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+2T>C (n.1075+2T>C)
c.1087+2T>C (n.1087+2T>C)
c.1081+2T>C (n.1081+2T>C)
c.1084+2T>C (n.1084+2T>C)
c.280+2T>C (n.280+2T>C)
2g.233767938T>GCA2179987UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+2T>G (n.1075+2T>G)
c.1087+2T>G (n.1087+2T>G)
c.1081+2T>G (n.1081+2T>G)
c.1084+2T>G (n.1084+2T>G)
c.280+2T>G (n.280+2T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767938T=CA1335895115UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+2T= (n.1075+2T=)
c.1087+2T= (n.1087+2T=)
c.1081+2T= (n.1081+2T=)
c.1084+2T= (n.1084+2T=)
c.280+2T= (n.280+2T=)
2g.233767939A=CA1335895116UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+3A= (n.1075+3A=)
c.1087+3A= (n.1087+3A=)
c.1081+3A= (n.1081+3A=)
c.1084+3A= (n.1084+3A=)
c.280+3A= (n.280+3A=)
2g.233767939A>GCA1335895117UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+3A>G (n.1075+3A>G)
c.1087+3A>G (n.1087+3A>G)
c.1081+3A>G (n.1081+3A>G)
c.1084+3A>G (n.1084+3A>G)
c.280+3A>G (n.280+3A>G)
dbSNP gnomAD v4
2g.233767940T>CCA540311597UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+4T>C (n.1075+4T>C)
c.1087+4T>C (n.1087+4T>C)
c.1081+4T>C (n.1081+4T>C)
c.1084+4T>C (n.1084+4T>C)
c.280+4T>C (n.280+4T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767940T=CA1335895118UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+4T= (n.1075+4T=)
c.1087+4T= (n.1087+4T=)
c.1081+4T= (n.1081+4T=)
c.1084+4T= (n.1084+4T=)
c.280+4T= (n.280+4T=)
2g.233767941G>ACA2663717270UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+5G>A (n.1075+5G>A)
c.1087+5G>A (n.1087+5G>A)
c.1081+5G>A (n.1081+5G>A)
c.1084+5G>A (n.1084+5G>A)
c.280+5G>A (n.280+5G>A)
gnomAD v4
2g.233767942T>ACA2663717271UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+6T>A (n.1075+6T>A)
c.1087+6T>A (n.1087+6T>A)
c.1081+6T>A (n.1081+6T>A)
c.1084+6T>A (n.1084+6T>A)
c.280+6T>A (n.280+6T>A)
gnomAD v4
2g.233767942T>CCA766291361UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+6T>C (n.1075+6T>C)
c.1087+6T>C (n.1087+6T>C)
c.1081+6T>C (n.1081+6T>C)
c.1084+6T>C (n.1084+6T>C)
c.280+6T>C (n.280+6T>C)
dbSNP gnomAD v3 gnomAD v4
2g.233767942T=CA1335895119UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+6T= (n.1075+6T=)
c.1087+6T= (n.1087+6T=)
c.1081+6T= (n.1081+6T=)
c.1084+6T= (n.1084+6T=)
c.280+6T= (n.280+6T=)
2g.233767943T>CCA2179988UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+7T>C (n.1075+7T>C)
c.1087+7T>C (n.1087+7T>C)
c.1081+7T>C (n.1081+7T>C)
c.1084+7T>C (n.1084+7T>C)
c.280+7T>C (n.280+7T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767943T=CA1335895120UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+7T= (n.1075+7T=)
c.1087+7T= (n.1087+7T=)
c.1081+7T= (n.1081+7T=)
c.1084+7T= (n.1084+7T=)
c.280+7T= (n.280+7T=)
2g.233767946delCA645531513UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+10del (n.1075+10del)
c.1087+10del (n.1087+10del)
c.1081+10del (n.1081+10del)
c.1084+10del (n.1084+10del)
c.280+10del (n.280+10del)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767946G>ACA540311598UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+10G>A (n.1075+10G>A)
c.1087+10G>A (n.1087+10G>A)
c.1081+10G>A (n.1081+10G>A)
c.1084+10G>A (n.1084+10G>A)
c.280+10G>A (n.280+10G>A)
dbSNP gnomAD v2 gnomAD v4
2g.233767946G=CA1335895121UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+10G= (n.1075+10G=)
c.1087+10G= (n.1087+10G=)
c.1081+10G= (n.1081+10G=)
c.1084+10G= (n.1084+10G=)
c.280+10G= (n.280+10G=)
2g.233767947C>ACA2701622373UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+11C>A (n.1075+11C>A)
c.1087+11C>A (n.1087+11C>A)
c.1081+11C>A (n.1081+11C>A)
c.1084+11C>A (n.1084+11C>A)
c.280+11C>A (n.280+11C>A)
dbSNP
2g.233767947C=CA1335895122UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+11C= (n.1075+11C=)
c.1087+11C= (n.1087+11C=)
c.1081+11C= (n.1081+11C=)
c.1084+11C= (n.1084+11C=)
c.280+11C= (n.280+11C=)
2g.233767947C>TCA2179989UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+11C>T (n.1075+11C>T)
c.1087+11C>T (n.1087+11C>T)
c.1081+11C>T (n.1081+11C>T)
c.1084+11C>T (n.1084+11C>T)
c.280+11C>T (n.280+11C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.233767948G>ACA2179990UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+12G>A (n.1075+12G>A)
c.1087+12G>A (n.1087+12G>A)
c.1081+12G>A (n.1081+12G>A)
c.1084+12G>A (n.1084+12G>A)
c.280+12G>A (n.280+12G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767948G=CA1335895123UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+12G= (n.1075+12G=)
c.1087+12G= (n.1087+12G=)
c.1081+12G= (n.1081+12G=)
c.1084+12G= (n.1084+12G=)
c.280+12G= (n.280+12G=)
2g.233767949G>ACA2179991UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+13G>A (n.1075+13G>A)
c.1087+13G>A (n.1087+13G>A)
c.1081+13G>A (n.1081+13G>A)
c.1084+13G>A (n.1084+13G>A)
c.280+13G>A (n.280+13G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767949G=CA1335895124UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+13G= (n.1075+13G=)
c.1087+13G= (n.1087+13G=)
c.1081+13G= (n.1081+13G=)
c.1084+13G= (n.1084+13G=)
c.280+13G= (n.280+13G=)
2g.233767950A=CA1335895125UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+14A= (n.1075+14A=)
c.1087+14A= (n.1087+14A=)
c.1081+14A= (n.1081+14A=)
c.1084+14A= (n.1084+14A=)
c.280+14A= (n.280+14A=)
2g.233767950A>GCA1335895126UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+14A>G (n.1075+14A>G)
c.1087+14A>G (n.1087+14A>G)
c.1081+14A>G (n.1081+14A>G)
c.1084+14A>G (n.1084+14A>G)
c.280+14A>G (n.280+14A>G)
dbSNP
2g.233767950A>TCA2663717283UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+14A>T (n.1075+14A>T)
c.1087+14A>T (n.1087+14A>T)
c.1081+14A>T (n.1081+14A>T)
c.1084+14A>T (n.1084+14A>T)
c.280+14A>T (n.280+14A>T)
gnomAD v4
2g.233767953G>ACA647643813UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+17G>A (n.1075+17G>A)
c.1087+17G>A (n.1087+17G>A)
c.1081+17G>A (n.1081+17G>A)
c.1084+17G>A (n.1084+17G>A)
c.280+17G>A (n.280+17G>A)
COSMIC
2g.233767954G>ACA2179992UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+18G>A (n.1075+18G>A)
c.1087+18G>A (n.1087+18G>A)
c.1081+18G>A (n.1081+18G>A)
c.1084+18G>A (n.1084+18G>A)
c.280+18G>A (n.280+18G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767954G=CA1335895127UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+18G= (n.1075+18G=)
c.1087+18G= (n.1087+18G=)
c.1081+18G= (n.1081+18G=)
c.1084+18G= (n.1084+18G=)
c.280+18G= (n.280+18G=)
2g.233767955A=CA1335895128UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+19A= (n.1075+19A=)
c.1087+19A= (n.1087+19A=)
c.1081+19A= (n.1081+19A=)
c.1084+19A= (n.1084+19A=)
c.280+19A= (n.280+19A=)
2g.233767955A>CCA2179993UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+19A>C (n.1075+19A>C)
c.1087+19A>C (n.1087+19A>C)
c.1081+19A>C (n.1081+19A>C)
c.1084+19A>C (n.1084+19A>C)
c.280+19A>C (n.280+19A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767955A>GCA2663717287UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+19A>G (n.1075+19A>G)
c.1087+19A>G (n.1087+19A>G)
c.1081+19A>G (n.1081+19A>G)
c.1084+19A>G (n.1084+19A>G)
c.280+19A>G (n.280+19A>G)
gnomAD v4
2g.233767956T>ACA2663717290UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+20T>A (n.1075+20T>A)
c.1087+20T>A (n.1087+20T>A)
c.1081+20T>A (n.1081+20T>A)
c.1084+20T>A (n.1084+20T>A)
c.280+20T>A (n.280+20T>A)
gnomAD v4
2g.233767956T>CCA2663717289UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+20T>C (n.1075+20T>C)
c.1087+20T>C (n.1087+20T>C)
c.1081+20T>C (n.1081+20T>C)
c.1084+20T>C (n.1084+20T>C)
c.280+20T>C (n.280+20T>C)
gnomAD v4
2g.233767956T>GCA2179994UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+20T>G (n.1075+20T>G)
c.1087+20T>G (n.1087+20T>G)
c.1081+20T>G (n.1081+20T>G)
c.1084+20T>G (n.1084+20T>G)
c.280+20T>G (n.280+20T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767956T=CA1335895129UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+20T= (n.1075+20T=)
c.1087+20T= (n.1087+20T=)
c.1081+20T= (n.1081+20T=)
c.1084+20T= (n.1084+20T=)
c.280+20T= (n.280+20T=)
2g.233767957G>ACA1335895130UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+21G>A (n.1075+21G>A)
c.1087+21G>A (n.1087+21G>A)
c.1081+21G>A (n.1081+21G>A)
c.1084+21G>A (n.1084+21G>A)
c.280+21G>A (n.280+21G>A)
dbSNP gnomAD v4
2g.233767957G=CA1335895131UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+21G= (n.1075+21G=)
c.1087+21G= (n.1087+21G=)
c.1081+21G= (n.1081+21G=)
c.1084+21G= (n.1084+21G=)
c.280+21G= (n.280+21G=)
2g.233767959A>GCA2663717291UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+23A>G (n.1075+23A>G)
c.1087+23A>G (n.1087+23A>G)
c.1081+23A>G (n.1081+23A>G)
c.1084+23A>G (n.1084+23A>G)
c.280+23A>G (n.280+23A>G)
gnomAD v4
2g.233767960T>CCA2179995UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+24T>C (n.1075+24T>C)
c.1087+24T>C (n.1087+24T>C)
c.1081+24T>C (n.1081+24T>C)
c.1084+24T>C (n.1084+24T>C)
c.280+24T>C (n.280+24T>C)
dbSNP ExAC gnomAD v4
2g.233767960T>GCA1043571257UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+24T>G (n.1075+24T>G)
c.1087+24T>G (n.1087+24T>G)
c.1081+24T>G (n.1081+24T>G)
c.1084+24T>G (n.1084+24T>G)
c.280+24T>G (n.280+24T>G)
dbSNP gnomAD v3 gnomAD v4
2g.233767960T=CA1335895132UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+24T= (n.1075+24T=)
c.1087+24T= (n.1087+24T=)
c.1081+24T= (n.1081+24T=)
c.1084+24T= (n.1084+24T=)
c.280+24T= (n.280+24T=)
2g.233767962G>ACA2577284428UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+26G>A (n.1075+26G>A)
c.1087+26G>A (n.1087+26G>A)
c.1081+26G>A (n.1081+26G>A)
c.1084+26G>A (n.1084+26G>A)
c.280+26G>A (n.280+26G>A)
gnomAD v4
2g.233767962G>CCA2179996UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+26G>C (n.1075+26G>C)
c.1087+26G>C (n.1087+26G>C)
c.1081+26G>C (n.1081+26G>C)
c.1084+26G>C (n.1084+26G>C)
c.280+26G>C (n.280+26G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767962G=CA1335895133UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+26G= (n.1075+26G=)
c.1087+26G= (n.1087+26G=)
c.1081+26G= (n.1081+26G=)
c.1084+26G= (n.1084+26G=)
c.280+26G= (n.280+26G=)
2g.233767963G>ACA2663717293UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+27G>A (n.1075+27G>A)
c.1087+27G>A (n.1087+27G>A)
c.1081+27G>A (n.1081+27G>A)
c.1084+27G>A (n.1084+27G>A)
c.280+27G>A (n.280+27G>A)
gnomAD v4
2g.233767964T>CCA2663717294UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+28T>C (n.1075+28T>C)
c.1087+28T>C (n.1087+28T>C)
c.1081+28T>C (n.1081+28T>C)
c.1084+28T>C (n.1084+28T>C)
c.280+28T>C (n.280+28T>C)
gnomAD v4
2g.233767965C=CA1335895134UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+29C= (n.1075+29C=)
c.1087+29C= (n.1087+29C=)
c.1081+29C= (n.1081+29C=)
c.1084+29C= (n.1084+29C=)
c.280+29C= (n.280+29C=)
2g.233767965C>TCA2663717295UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+29C>T (n.1075+29C>T)
c.1087+29C>T (n.1087+29C>T)
c.1081+29C>T (n.1081+29C>T)
c.1084+29C>T (n.1084+29C>T)
c.280+29C>T (n.280+29C>T)
gnomAD v4
2g.233767966A>GCA2663717296UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+30A>G (n.1075+30A>G)
c.1087+30A>G (n.1087+30A>G)
c.1081+30A>G (n.1081+30A>G)
c.1084+30A>G (n.1084+30A>G)
c.280+30A>G (n.280+30A>G)
gnomAD v4
2g.233767966_233767972dupCA1043571259UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+30_1075+36dup (n.1075+30_1075+36dup)
c.1087+30_1087+36dup (n.1087+30_1087+36dup)
c.1081+30_1081+36dup (n.1081+30_1081+36dup)
c.1084+30_1084+36dup (n.1084+30_1084+36dup)
c.280+30_280+36dup (n.280+30_280+36dup)
dbSNP gnomAD v3 gnomAD v4
2g.233767969C>TCA2577284429UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+33C>T (n.1075+33C>T)
c.1087+33C>T (n.1087+33C>T)
c.1081+33C>T (n.1081+33C>T)
c.1084+33C>T (n.1084+33C>T)
c.280+33C>T (n.280+33C>T)
2g.233767971A=CA1335895135UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+35A= (n.1075+35A=)
c.1087+35A= (n.1087+35A=)
c.1081+35A= (n.1081+35A=)
c.1084+35A= (n.1084+35A=)
c.280+35A= (n.280+35A=)
2g.233767971A>CCA2179997UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+35A>C (n.1075+35A>C)
c.1087+35A>C (n.1087+35A>C)
c.1081+35A>C (n.1081+35A>C)
c.1084+35A>C (n.1084+35A>C)
c.280+35A>C (n.280+35A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767972G>CCA766291383UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+36G>C (n.1075+36G>C)
c.1087+36G>C (n.1087+36G>C)
c.1081+36G>C (n.1081+36G>C)
c.1084+36G>C (n.1084+36G>C)
c.280+36G>C (n.280+36G>C)
dbSNP gnomAD v3 gnomAD v4
2g.233767972G=CA1335895136UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+36G= (n.1075+36G=)
c.1087+36G= (n.1087+36G=)
c.1081+36G= (n.1081+36G=)
c.1084+36G= (n.1084+36G=)
c.280+36G= (n.280+36G=)
2g.233767974G>ACA540311599UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+38G>A (n.1075+38G>A)
c.1087+38G>A (n.1087+38G>A)
c.1081+38G>A (n.1081+38G>A)
c.1084+38G>A (n.1084+38G>A)
c.280+38G>A (n.280+38G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767974G=CA1335895137UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+38G= (n.1075+38G=)
c.1087+38G= (n.1087+38G=)
c.1081+38G= (n.1081+38G=)
c.1084+38G= (n.1084+38G=)
c.280+38G= (n.280+38G=)
2g.233767974G>TCA647643815UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+38G>T (n.1075+38G>T)
c.1087+38G>T (n.1087+38G>T)
c.1081+38G>T (n.1081+38G>T)
c.1084+38G>T (n.1084+38G>T)
c.280+38G>T (n.280+38G>T)
COSMIC
2g.233767975T>ACA2179998UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+39T>A (n.1075+39T>A)
c.1087+39T>A (n.1087+39T>A)
c.1081+39T>A (n.1081+39T>A)
c.1084+39T>A (n.1084+39T>A)
c.280+39T>A (n.280+39T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767975T>GCA1335895138UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+39T>G (n.1075+39T>G)
c.1087+39T>G (n.1087+39T>G)
c.1081+39T>G (n.1081+39T>G)
c.1084+39T>G (n.1084+39T>G)
c.280+39T>G (n.280+39T>G)
dbSNP
2g.233767975T=CA1335895139UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+39T= (n.1075+39T=)
c.1087+39T= (n.1087+39T=)
c.1081+39T= (n.1081+39T=)
c.1084+39T= (n.1084+39T=)
c.280+39T= (n.280+39T=)
2g.233767976C>ACA2564611855UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+40C>A (n.1075+40C>A)
c.1087+40C>A (n.1087+40C>A)
c.1081+40C>A (n.1081+40C>A)
c.1084+40C>A (n.1084+40C>A)
c.280+40C>A (n.280+40C>A)
gnomAD v4
2g.233767976C>GCA2663717297UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+40C>G (n.1075+40C>G)
c.1087+40C>G (n.1087+40C>G)
c.1081+40C>G (n.1081+40C>G)
c.1084+40C>G (n.1084+40C>G)
c.280+40C>G (n.280+40C>G)
gnomAD v4
2g.233767977A>GCA2701894199UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+41A>G (n.1075+41A>G)
c.1087+41A>G (n.1087+41A>G)
c.1081+41A>G (n.1081+41A>G)
c.1084+41A>G (n.1084+41A>G)
c.280+41A>G (n.280+41A>G)
dbSNP
2g.233767978A>CCA2663717298UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+42A>C (n.1075+42A>C)
c.1087+42A>C (n.1087+42A>C)
c.1081+42A>C (n.1081+42A>C)
c.1084+42A>C (n.1084+42A>C)
c.280+42A>C (n.280+42A>C)
gnomAD v4
2g.233767978A>GCA2577284430UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+42A>G (n.1075+42A>G)
c.1087+42A>G (n.1087+42A>G)
c.1081+42A>G (n.1081+42A>G)
c.1084+42A>G (n.1084+42A>G)
c.280+42A>G (n.280+42A>G)
gnomAD v4
2g.233767981T>GCA2663717299UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1075+45T>G (n.1075+45T>G)
c.1087+45T>G (n.1087+45T>G)
c.1081+45T>G (n.1081+45T>G)
c.1084+45T>G (n.1084+45T>G)
c.280+45T>G (n.280+45T>G)
gnomAD v4

Number of alleles fetched