Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233766992delCA2577284395UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-42del (n.856-42del)
c.868-42del (n.868-42del)
c.862-42del (n.862-42del)
c.865-42del (n.865-42del)
c.61-42del (n.61-42del)
c.442-42del (n.442-42del)
2g.233766993T>CCA2663716488UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-41T>C (n.856-41T>C)
c.868-41T>C (n.868-41T>C)
c.862-41T>C (n.862-41T>C)
c.865-41T>C (n.865-41T>C)
c.61-41T>C (n.61-41T>C)
c.442-41T>C (n.442-41T>C)
gnomAD v4
2g.233766994A>GCA2577284396UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-40A>G (n.856-40A>G)
c.868-40A>G (n.868-40A>G)
c.862-40A>G (n.862-40A>G)
c.865-40A>G (n.865-40A>G)
c.61-40A>G (n.61-40A>G)
c.442-40A>G (n.442-40A>G)
2g.233766995T>CCA2663716490UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-39T>C (n.856-39T>C)
c.868-39T>C (n.868-39T>C)
c.862-39T>C (n.862-39T>C)
c.865-39T>C (n.865-39T>C)
c.61-39T>C (n.61-39T>C)
c.442-39T>C (n.442-39T>C)
gnomAD v4
2g.233767004delCA2577284397UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-30del (n.856-30del)
c.868-30del (n.868-30del)
c.862-30del (n.862-30del)
c.865-30del (n.865-30del)
c.61-30del (n.61-30del)
c.442-30del (n.442-30del)
gnomAD v4
2g.233767000A=CA1335894674UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-34A= (n.856-34A=)
c.868-34A= (n.868-34A=)
c.862-34A= (n.862-34A=)
c.865-34A= (n.865-34A=)
c.61-34A= (n.61-34A=)
c.442-34A= (n.442-34A=)
2g.233767000A>CCA2179915UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-34A>C (n.856-34A>C)
c.868-34A>C (n.868-34A>C)
c.862-34A>C (n.862-34A>C)
c.865-34A>C (n.865-34A>C)
c.61-34A>C (n.61-34A>C)
c.442-34A>C (n.442-34A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767000A>GCA2663716494UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-34A>G (n.856-34A>G)
c.868-34A>G (n.868-34A>G)
c.862-34A>G (n.862-34A>G)
c.865-34A>G (n.865-34A>G)
c.61-34A>G (n.61-34A>G)
c.442-34A>G (n.442-34A>G)
gnomAD v4
2g.233767001A>GCA2607617184UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-33A>G (n.856-33A>G)
c.868-33A>G (n.868-33A>G)
c.862-33A>G (n.862-33A>G)
c.865-33A>G (n.865-33A>G)
c.61-33A>G (n.61-33A>G)
c.442-33A>G (n.442-33A>G)
dbSNP gnomAD v3 gnomAD v4
2g.233767002A>CCA2541303759UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-32A>C (n.856-32A>C)
c.868-32A>C (n.868-32A>C)
c.862-32A>C (n.862-32A>C)
c.865-32A>C (n.865-32A>C)
c.61-32A>C (n.61-32A>C)
c.442-32A>C (n.442-32A>C)
gnomAD v4
2g.233767005T>ACA2663716497UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-29T>A (n.856-29T>A)
c.868-29T>A (n.868-29T>A)
c.862-29T>A (n.862-29T>A)
c.865-29T>A (n.865-29T>A)
c.61-29T>A (n.61-29T>A)
c.442-29T>A (n.442-29T>A)
gnomAD v4
2g.233767005T>CCA2663716499UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-29T>C (n.856-29T>C)
c.868-29T>C (n.868-29T>C)
c.862-29T>C (n.862-29T>C)
c.865-29T>C (n.865-29T>C)
c.61-29T>C (n.61-29T>C)
c.442-29T>C (n.442-29T>C)
gnomAD v4
2g.233767005_233767009delinsTTAACCA1335894675UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-29_856-25delinsTTAAC (n.856-29_856-25delinsTTAAC)
c.868-29_868-25delinsTTAAC (n.868-29_868-25delinsTTAAC)
c.862-29_862-25delinsTTAAC (n.862-29_862-25delinsTTAAC)
c.865-29_865-25delinsTTAAC (n.865-29_865-25delinsTTAAC)
c.61-29_61-25delinsTTAAC (n.61-29_61-25delinsTTAAC)
c.442-29_442-25delinsTTAAC (n.442-29_442-25delinsTTAAC)
2g.233767007_233767010delCA2179916UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-27_856-24del (n.856-27_856-24del)
c.868-27_868-24del (n.868-27_868-24del)
c.862-27_862-24del (n.862-27_862-24del)
c.865-27_865-24del (n.865-27_865-24del)
c.61-27_61-24del (n.61-27_61-24del)
c.442-27_442-24del (n.442-27_442-24del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767007A>TCA2663716501UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-27A>T (n.856-27A>T)
c.868-27A>T (n.868-27A>T)
c.862-27A>T (n.862-27A>T)
c.865-27A>T (n.865-27A>T)
c.61-27A>T (n.61-27A>T)
c.442-27A>T (n.442-27A>T)
gnomAD v4
2g.233767008A=CA1335894676UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-26A= (n.856-26A=)
c.868-26A= (n.868-26A=)
c.862-26A= (n.862-26A=)
c.865-26A= (n.865-26A=)
c.61-26A= (n.61-26A=)
c.442-26A= (n.442-26A=)
2g.233767008A>CCA67595028UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-26A>C (n.856-26A>C)
c.868-26A>C (n.868-26A>C)
c.862-26A>C (n.862-26A>C)
c.865-26A>C (n.865-26A>C)
c.61-26A>C (n.61-26A>C)
c.442-26A>C (n.442-26A>C)
dbSNP
2g.233767010T>ACA1335894678UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-24T>A (n.856-24T>A)
c.868-24T>A (n.868-24T>A)
c.862-24T>A (n.862-24T>A)
c.865-24T>A (n.865-24T>A)
c.61-24T>A (n.61-24T>A)
c.442-24T>A (n.442-24T>A)
dbSNP
2g.233767010T=CA1335894677UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-24T= (n.856-24T=)
c.868-24T= (n.868-24T=)
c.862-24T= (n.862-24T=)
c.865-24T= (n.865-24T=)
c.61-24T= (n.61-24T=)
c.442-24T= (n.442-24T=)
2g.233767013A>CCA2663716502UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-21A>C (n.856-21A>C)
c.868-21A>C (n.868-21A>C)
c.862-21A>C (n.862-21A>C)
c.865-21A>C (n.865-21A>C)
c.61-21A>C (n.61-21A>C)
c.442-21A>C (n.442-21A>C)
gnomAD v4
2g.233767014A=CA1335894679UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-20A= (n.856-20A=)
c.868-20A= (n.868-20A=)
c.862-20A= (n.862-20A=)
c.865-20A= (n.865-20A=)
c.61-20A= (n.61-20A=)
c.442-20A= (n.442-20A=)
2g.233767014A>CCA540071979UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-20A>C (n.856-20A>C)
c.868-20A>C (n.868-20A>C)
c.862-20A>C (n.862-20A>C)
c.865-20A>C (n.865-20A>C)
c.61-20A>C (n.61-20A>C)
c.442-20A>C (n.442-20A>C)
dbSNP gnomAD v2 gnomAD v4
2g.233767015A=CA1335894682UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-19A= (n.856-19A=)
c.868-19A= (n.868-19A=)
c.862-19A= (n.862-19A=)
c.865-19A= (n.865-19A=)
c.61-19A= (n.61-19A=)
c.442-19A= (n.442-19A=)
2g.233767015A>GCA1335894681UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-19A>G (n.856-19A>G)
c.868-19A>G (n.868-19A>G)
c.862-19A>G (n.862-19A>G)
c.865-19A>G (n.865-19A>G)
c.61-19A>G (n.61-19A>G)
c.442-19A>G (n.442-19A>G)
dbSNP gnomAD v4
2g.233767015A>TCA1335894680UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-19A>T (n.856-19A>T)
c.868-19A>T (n.868-19A>T)
c.862-19A>T (n.862-19A>T)
c.865-19A>T (n.865-19A>T)
c.61-19A>T (n.61-19A>T)
c.442-19A>T (n.442-19A>T)
dbSNP
2g.233767016T>ACA2179917UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-18T>A (n.856-18T>A)
c.868-18T>A (n.868-18T>A)
c.862-18T>A (n.862-18T>A)
c.865-18T>A (n.865-18T>A)
c.61-18T>A (n.61-18T>A)
c.442-18T>A (n.442-18T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767016T=CA1335894683UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-18T= (n.856-18T=)
c.868-18T= (n.868-18T=)
c.862-18T= (n.862-18T=)
c.865-18T= (n.865-18T=)
c.61-18T= (n.61-18T=)
c.442-18T= (n.442-18T=)
2g.233767017T>GCA2179918UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-17T>G (n.856-17T>G)
c.868-17T>G (n.868-17T>G)
c.862-17T>G (n.862-17T>G)
c.865-17T>G (n.865-17T>G)
c.61-17T>G (n.61-17T>G)
c.442-17T>G (n.442-17T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767017T=CA1335894684UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-17T= (n.856-17T=)
c.868-17T= (n.868-17T=)
c.862-17T= (n.862-17T=)
c.865-17T= (n.865-17T=)
c.61-17T= (n.61-17T=)
c.442-17T= (n.442-17T=)
2g.233767018T>GCA1335894686UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-16T>G (n.856-16T>G)
c.868-16T>G (n.868-16T>G)
c.862-16T>G (n.862-16T>G)
c.865-16T>G (n.865-16T>G)
c.61-16T>G (n.61-16T>G)
c.442-16T>G (n.442-16T>G)
dbSNP gnomAD v4
2g.233767018T=CA1335894685UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-16T= (n.856-16T=)
c.868-16T= (n.868-16T=)
c.862-16T= (n.862-16T=)
c.865-16T= (n.865-16T=)
c.61-16T= (n.61-16T=)
c.442-16T= (n.442-16T=)
2g.233767022T>GCA540071980UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-12T>G (n.856-12T>G)
c.868-12T>G (n.868-12T>G)
c.862-12T>G (n.862-12T>G)
c.865-12T>G (n.865-12T>G)
c.61-12T>G (n.61-12T>G)
c.442-12T>G (n.442-12T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767022T=CA1335894687UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-12T= (n.856-12T=)
c.868-12T= (n.868-12T=)
c.862-12T= (n.862-12T=)
c.865-12T= (n.865-12T=)
c.61-12T= (n.61-12T=)
c.442-12T= (n.442-12T=)
2g.233767025T>GCA540071981UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-9T>G (n.856-9T>G)
c.868-9T>G (n.868-9T>G)
c.862-9T>G (n.862-9T>G)
c.865-9T>G (n.865-9T>G)
c.61-9T>G (n.61-9T>G)
c.442-9T>G (n.442-9T>G)
dbSNP gnomAD v2 gnomAD v4
2g.233767025T=CA1335894688UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-9T= (n.856-9T=)
c.868-9T= (n.868-9T=)
c.862-9T= (n.862-9T=)
c.865-9T= (n.865-9T=)
c.61-9T= (n.61-9T=)
c.442-9T= (n.442-9T=)
2g.233767027G>ACA2179919UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-7G>A (n.856-7G>A)
c.868-7G>A (n.868-7G>A)
c.862-7G>A (n.862-7G>A)
c.865-7G>A (n.865-7G>A)
c.61-7G>A (n.61-7G>A)
c.442-7G>A (n.442-7G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767027G=CA1335894689UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-7G= (n.856-7G=)
c.868-7G= (n.868-7G=)
c.862-7G= (n.862-7G=)
c.865-7G= (n.865-7G=)
c.61-7G= (n.61-7G=)
c.442-7G= (n.442-7G=)
2g.233767030C>TCA2577284398UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-4C>T (n.856-4C>T)
c.868-4C>T (n.868-4C>T)
c.862-4C>T (n.862-4C>T)
c.865-4C>T (n.865-4C>T)
c.61-4C>T (n.61-4C>T)
c.442-4C>T (n.442-4C>T)
2g.233767032A>CCA351071572UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-2A>C (n.856-2A>C)
c.868-2A>C (n.868-2A>C)
c.862-2A>C (n.862-2A>C)
c.865-2A>C (n.865-2A>C)
c.61-2A>C (n.61-2A>C)
c.442-2A>C (n.442-2A>C)
2g.233767032A>GCA351071570UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-2A>G (n.856-2A>G)
c.868-2A>G (n.868-2A>G)
c.862-2A>G (n.862-2A>G)
c.865-2A>G (n.865-2A>G)
c.61-2A>G (n.61-2A>G)
c.442-2A>G (n.442-2A>G)
2g.233767032A>TCA351071568UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-2A>T (n.856-2A>T)
c.868-2A>T (n.868-2A>T)
c.862-2A>T (n.862-2A>T)
c.865-2A>T (n.865-2A>T)
c.61-2A>T (n.61-2A>T)
c.442-2A>T (n.442-2A>T)
2g.233767033G>ACA351071573UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-1G>A (n.856-1G>A)
c.868-1G>A (n.868-1G>A)
c.862-1G>A (n.862-1G>A)
c.865-1G>A (n.865-1G>A)
c.61-1G>A (n.61-1G>A)
c.442-1G>A (n.442-1G>A)
dbSNP gnomAD v2 gnomAD v4
2g.233767033G>CCA351071574UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-1G>C (n.856-1G>C)
c.868-1G>C (n.868-1G>C)
c.862-1G>C (n.862-1G>C)
c.865-1G>C (n.865-1G>C)
c.61-1G>C (n.61-1G>C)
c.442-1G>C (n.442-1G>C)
2g.233767033G=CA1335894690UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-1G= (n.856-1G=)
c.868-1G= (n.868-1G=)
c.862-1G= (n.862-1G=)
c.865-1G= (n.865-1G=)
c.61-1G= (n.61-1G=)
c.442-1G= (n.442-1G=)
2g.233767033G>TCA351071575UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-1G>T (n.856-1G>T)
c.868-1G>T (n.868-1G>T)
c.862-1G>T (n.862-1G>T)
c.865-1G>T (n.865-1G>T)
c.61-1G>T (n.61-1G>T)
c.442-1G>T (n.442-1G>T)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767034G>ACA351071578UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856G>A (p.Glu286Lys)
c.868G>A (p.Glu290Lys)
c.862G>A (p.Glu288Lys)
c.865G>A (p.Glu289Lys)
c.61G>A (p.Glu21Lys)
c.442G>A (n.442G>A)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767034G>CCA351071583UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856G>C (p.Glu286Gln)
c.868G>C (p.Glu290Gln)
c.862G>C (p.Glu288Gln)
c.865G>C (p.Glu289Gln)
c.61G>C (p.Glu21Gln)
c.442G>C (n.442G>C)
2g.233767034G=CA1335894691UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856G= (p.Glu286=)
c.868G= (p.Glu290=)
c.862G= (p.Glu288=)
c.865G= (p.Glu289=)
c.61G= (p.Glu21=)
c.442G= (n.442G=)
2g.233767034G>TCA351071584UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856G>T (p.Glu286Ter)
c.868G>T (p.Glu290Ter)
c.862G>T (p.Glu288Ter)
c.865G>T (p.Glu289Ter)
c.61G>T (p.Glu21Ter)
c.442G>T (n.442G>T)
2g.233767035A=CA1335894692UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.857A= (p.Glu286=)
c.869A= (p.Glu290=)
c.863A= (p.Glu288=)
c.866A= (p.Glu289=)
c.62A= (p.Glu21=)
c.443A= (n.443A=)

Number of alleles fetched