Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760443G>ACA2179781UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6591G>A (n.856-6591G>A)
c.868-6591G>A (n.868-6591G>A)
c.862-6591G>A (n.862-6591G>A)
c.156G>A (p.Gln52=)
c.61-6591G>A (n.61-6591G>A)
c.442-6591G>A (n.442-6591G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760443G>CCA351065936UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6591G>C (n.856-6591G>C)
c.868-6591G>C (n.868-6591G>C)
c.862-6591G>C (n.862-6591G>C)
c.156G>C (p.Gln52His)
c.61-6591G>C (n.61-6591G>C)
c.442-6591G>C (n.442-6591G>C)
dbSNP gnomAD v4
2g.233760443G=CA1335893892UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6591G= (n.856-6591G=)
c.868-6591G= (n.868-6591G=)
c.862-6591G= (n.862-6591G=)
c.156G= (p.Gln52=)
c.61-6591G= (n.61-6591G=)
c.442-6591G= (n.442-6591G=)
2g.233760443G>TCA351065938UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6591G>T (n.856-6591G>T)
c.868-6591G>T (n.868-6591G>T)
c.862-6591G>T (n.862-6591G>T)
c.156G>T (p.Gln52His)
c.61-6591G>T (n.61-6591G>T)
c.442-6591G>T (n.442-6591G>T)
2g.233760444A>CCA431960109UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6590A>C (n.856-6590A>C)
c.868-6590A>C (n.868-6590A>C)
c.862-6590A>C (n.862-6590A>C)
c.157A>C (p.Arg53=)
c.61-6590A>C (n.61-6590A>C)
c.442-6590A>C (n.442-6590A>C)
2g.233760444A>GCA351065940UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6590A>G (n.856-6590A>G)
c.868-6590A>G (n.868-6590A>G)
c.862-6590A>G (n.862-6590A>G)
c.157A>G (p.Arg53Gly)
c.61-6590A>G (n.61-6590A>G)
c.442-6590A>G (n.442-6590A>G)
dbSNP
2g.233760444A>TCA351065942UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6590A>T (n.856-6590A>T)
c.868-6590A>T (n.868-6590A>T)
c.862-6590A>T (n.862-6590A>T)
c.157A>T (p.Arg53Trp)
c.61-6590A>T (n.61-6590A>T)
c.442-6590A>T (n.442-6590A>T)
2g.233760445G>ACA351065944UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6589G>A (n.856-6589G>A)
c.868-6589G>A (n.868-6589G>A)
c.862-6589G>A (n.862-6589G>A)
c.158G>A (p.Arg53Lys)
c.61-6589G>A (n.61-6589G>A)
c.442-6589G>A (n.442-6589G>A)
dbSNP gnomAD v4
2g.233760445G>CCA351065947UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6589G>C (n.856-6589G>C)
c.868-6589G>C (n.868-6589G>C)
c.862-6589G>C (n.862-6589G>C)
c.158G>C (p.Arg53Thr)
c.61-6589G>C (n.61-6589G>C)
c.442-6589G>C (n.442-6589G>C)
2g.233760445G>TCA351065949UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6589G>T (n.856-6589G>T)
c.868-6589G>T (n.868-6589G>T)
c.862-6589G>T (n.862-6589G>T)
c.158G>T (p.Arg53Met)
c.61-6589G>T (n.61-6589G>T)
c.442-6589G>T (n.442-6589G>T)
dbSNP
2g.233760446G>ACA2179782UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6588G>A (n.856-6588G>A)
c.868-6588G>A (n.868-6588G>A)
c.862-6588G>A (n.862-6588G>A)
c.159G>A (p.Arg53=)
c.61-6588G>A (n.61-6588G>A)
c.442-6588G>A (n.442-6588G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760446G>CCA351065957UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6588G>C (n.856-6588G>C)
c.868-6588G>C (n.868-6588G>C)
c.862-6588G>C (n.862-6588G>C)
c.159G>C (p.Arg53Ser)
c.61-6588G>C (n.61-6588G>C)
c.442-6588G>C (n.442-6588G>C)
2g.233760446G=CA1335893893UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6588G= (n.856-6588G=)
c.868-6588G= (n.868-6588G=)
c.862-6588G= (n.862-6588G=)
c.159G= (p.Arg53=)
c.61-6588G= (n.61-6588G=)
c.442-6588G= (n.442-6588G=)
2g.233760446G>TCA351065954UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6588G>T (n.856-6588G>T)
c.868-6588G>T (n.868-6588G>T)
c.862-6588G>T (n.862-6588G>T)
c.159G>T (p.Arg53Ser)
c.61-6588G>T (n.61-6588G>T)
c.442-6588G>T (n.442-6588G>T)
dbSNP gnomAD v2 gnomAD v4
2g.233760447G>ACA351065960UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6587G>A (n.856-6587G>A)
c.868-6587G>A (n.868-6587G>A)
c.862-6587G>A (n.862-6587G>A)
c.160G>A (p.Gly54Arg)
c.61-6587G>A (n.61-6587G>A)
c.442-6587G>A (n.442-6587G>A)
dbSNP
2g.233760447G>CCA351065962UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6587G>C (n.856-6587G>C)
c.868-6587G>C (n.868-6587G>C)
c.862-6587G>C (n.862-6587G>C)
c.160G>C (p.Gly54Arg)
c.61-6587G>C (n.61-6587G>C)
c.442-6587G>C (n.442-6587G>C)
dbSNP
2g.233760447G>TCA351065965UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6587G>T (n.856-6587G>T)
c.868-6587G>T (n.868-6587G>T)
c.862-6587G>T (n.862-6587G>T)
c.160G>T (p.Gly54Ter)
c.61-6587G>T (n.61-6587G>T)
c.442-6587G>T (n.442-6587G>T)
dbSNP
2g.233760448G>ACA351065967UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6586G>A (n.856-6586G>A)
c.868-6586G>A (n.868-6586G>A)
c.862-6586G>A (n.862-6586G>A)
c.161G>A (p.Gly54Glu)
c.61-6586G>A (n.61-6586G>A)
c.442-6586G>A (n.442-6586G>A)
dbSNP
2g.233760448G>CCA351065969UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6586G>C (n.856-6586G>C)
c.868-6586G>C (n.868-6586G>C)
c.862-6586G>C (n.862-6586G>C)
c.161G>C (p.Gly54Ala)
c.61-6586G>C (n.61-6586G>C)
c.442-6586G>C (n.442-6586G>C)
dbSNP
2g.233760448G=CA1335893894UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6586G= (n.856-6586G=)
c.868-6586G= (n.868-6586G=)
c.862-6586G= (n.862-6586G=)
c.161G= (p.Gly54=)
c.61-6586G= (n.61-6586G=)
c.442-6586G= (n.442-6586G=)
2g.233760448G>TCA2179783UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6586G>T (n.856-6586G>T)
c.868-6586G>T (n.868-6586G>T)
c.862-6586G>T (n.862-6586G>T)
c.161G>T (p.Gly54Val)
c.61-6586G>T (n.61-6586G>T)
c.442-6586G>T (n.442-6586G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760449delCA2663717383UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6585del (n.856-6585del)
c.868-6585del (n.868-6585del)
c.862-6585del (n.862-6585del)
c.162del (p.His55MetfsTer3)
c.61-6585del (n.61-6585del)
c.442-6585del (n.442-6585del)
gnomAD v4
2g.233760449A>CCA431960110UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6585A>C (n.856-6585A>C)
c.868-6585A>C (n.868-6585A>C)
c.862-6585A>C (n.862-6585A>C)
c.162A>C (p.Gly54=)
c.61-6585A>C (n.61-6585A>C)
c.442-6585A>C (n.442-6585A>C)
2g.233760449A>GCA431960111UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6585A>G (n.856-6585A>G)
c.868-6585A>G (n.868-6585A>G)
c.862-6585A>G (n.862-6585A>G)
c.162A>G (p.Gly54=)
c.61-6585A>G (n.61-6585A>G)
c.442-6585A>G (n.442-6585A>G)
2g.233760449A>TCA431960112UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6585A>T (n.856-6585A>T)
c.868-6585A>T (n.868-6585A>T)
c.862-6585A>T (n.862-6585A>T)
c.162A>T (p.Gly54=)
c.61-6585A>T (n.61-6585A>T)
c.442-6585A>T (n.442-6585A>T)
dbSNP
2g.233760450C>ACA351065977UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6584C>A (n.856-6584C>A)
c.868-6584C>A (n.868-6584C>A)
c.862-6584C>A (n.862-6584C>A)
c.163C>A (p.His55Asn)
c.61-6584C>A (n.61-6584C>A)
c.442-6584C>A (n.442-6584C>A)
2g.233760450C=CA1335893895UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6584C= (n.856-6584C=)
c.868-6584C= (n.868-6584C=)
c.862-6584C= (n.862-6584C=)
c.163C= (p.His55=)
c.61-6584C= (n.61-6584C=)
c.442-6584C= (n.442-6584C=)
2g.233760450C>GCA351065972UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6584C>G (n.856-6584C>G)
c.868-6584C>G (n.868-6584C>G)
c.862-6584C>G (n.862-6584C>G)
c.163C>G (p.His55Asp)
c.61-6584C>G (n.61-6584C>G)
c.442-6584C>G (n.442-6584C>G)
dbSNP
2g.233760450C>TCA351065974UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6584C>T (n.856-6584C>T)
c.868-6584C>T (n.868-6584C>T)
c.862-6584C>T (n.862-6584C>T)
c.163C>T (p.His55Tyr)
c.61-6584C>T (n.61-6584C>T)
c.442-6584C>T (n.442-6584C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760451A>CCA351065981UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6583A>C (n.856-6583A>C)
c.868-6583A>C (n.868-6583A>C)
c.862-6583A>C (n.862-6583A>C)
c.164A>C (p.His55Pro)
c.61-6583A>C (n.61-6583A>C)
c.442-6583A>C (n.442-6583A>C)
2g.233760451A>GCA351065983UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6583A>G (n.856-6583A>G)
c.868-6583A>G (n.868-6583A>G)
c.862-6583A>G (n.862-6583A>G)
c.164A>G (p.His55Arg)
c.61-6583A>G (n.61-6583A>G)
c.442-6583A>G (n.442-6583A>G)
ClinVar
2g.233760451A>TCA351065985UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6583A>T (n.856-6583A>T)
c.868-6583A>T (n.868-6583A>T)
c.862-6583A>T (n.862-6583A>T)
c.164A>T (p.His55Leu)
c.61-6583A>T (n.61-6583A>T)
c.442-6583A>T (n.442-6583A>T)
2g.233760451dupCA2580066072UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6583dup (n.856-6583dup)
c.868-6583dup (n.868-6583dup)
c.862-6583dup (n.862-6583dup)
c.164dup (p.His55GlnfsTer2)
c.61-6583dup (n.61-6583dup)
c.442-6583dup (n.442-6583dup)
ClinVar gnomAD v4
2g.233760452T>ACA351065987UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6582T>A (n.856-6582T>A)
c.868-6582T>A (n.868-6582T>A)
c.862-6582T>A (n.862-6582T>A)
c.165T>A (p.His55Gln)
c.61-6582T>A (n.61-6582T>A)
c.442-6582T>A (n.442-6582T>A)
dbSNP gnomAD v4
2g.233760452T>CCA431960113UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6582T>C (n.856-6582T>C)
c.868-6582T>C (n.868-6582T>C)
c.862-6582T>C (n.862-6582T>C)
c.165T>C (p.His55=)
c.61-6582T>C (n.61-6582T>C)
c.442-6582T>C (n.442-6582T>C)
dbSNP
2g.233760452T>GCA351065988UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6582T>G (n.856-6582T>G)
c.868-6582T>G (n.868-6582T>G)
c.862-6582T>G (n.862-6582T>G)
c.165T>G (p.His55Gln)
c.61-6582T>G (n.61-6582T>G)
c.442-6582T>G (n.442-6582T>G)
2g.233760452T=CA1335893896UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6582T= (n.856-6582T=)
c.868-6582T= (n.868-6582T=)
c.862-6582T= (n.862-6582T=)
c.165T= (p.His55=)
c.61-6582T= (n.61-6582T=)
c.442-6582T= (n.442-6582T=)
2g.233760453G>ACA351065992UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6581G>A (n.856-6581G>A)
c.868-6581G>A (n.868-6581G>A)
c.862-6581G>A (n.862-6581G>A)
c.166G>A (p.Glu56Lys)
c.61-6581G>A (n.61-6581G>A)
c.442-6581G>A (n.442-6581G>A)
2g.233760453G>CCA67589694UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6581G>C (n.856-6581G>C)
c.868-6581G>C (n.868-6581G>C)
c.862-6581G>C (n.862-6581G>C)
c.166G>C (p.Glu56Gln)
c.61-6581G>C (n.61-6581G>C)
c.442-6581G>C (n.442-6581G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760453G=CA1335893897UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6581G= (n.856-6581G=)
c.868-6581G= (n.868-6581G=)
c.862-6581G= (n.862-6581G=)
c.166G= (p.Glu56=)
c.61-6581G= (n.61-6581G=)
c.442-6581G= (n.442-6581G=)
2g.233760453G>TCA351065991UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6581G>T (n.856-6581G>T)
c.868-6581G>T (n.868-6581G>T)
c.862-6581G>T (n.862-6581G>T)
c.166G>T (p.Glu56Ter)
c.61-6581G>T (n.61-6581G>T)
c.442-6581G>T (n.442-6581G>T)
2g.233760454A=CA1335893898UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6580A= (n.856-6580A=)
c.868-6580A= (n.868-6580A=)
c.862-6580A= (n.862-6580A=)
c.167A= (p.Glu56=)
c.61-6580A= (n.61-6580A=)
c.442-6580A= (n.442-6580A=)
2g.233760454A>CCA2179784UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6580A>C (n.856-6580A>C)
c.868-6580A>C (n.868-6580A>C)
c.862-6580A>C (n.862-6580A>C)
c.167A>C (p.Glu56Ala)
c.61-6580A>C (n.61-6580A>C)
c.442-6580A>C (n.442-6580A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760454A>GCA351065994UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6580A>G (n.856-6580A>G)
c.868-6580A>G (n.868-6580A>G)
c.862-6580A>G (n.862-6580A>G)
c.167A>G (p.Glu56Gly)
c.61-6580A>G (n.61-6580A>G)
c.442-6580A>G (n.442-6580A>G)
dbSNP
2g.233760454A>TCA351065996UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6580A>T (n.856-6580A>T)
c.868-6580A>T (n.868-6580A>T)
c.862-6580A>T (n.862-6580A>T)
c.167A>T (p.Glu56Val)
c.61-6580A>T (n.61-6580A>T)
c.442-6580A>T (n.442-6580A>T)
2g.233760455A>CCA351065998UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6579A>C (n.856-6579A>C)
c.868-6579A>C (n.868-6579A>C)
c.862-6579A>C (n.862-6579A>C)
c.168A>C (p.Glu56Asp)
c.61-6579A>C (n.61-6579A>C)
c.442-6579A>C (n.442-6579A>C)
2g.233760455A>GCA431960114UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6579A>G (n.856-6579A>G)
c.868-6579A>G (n.868-6579A>G)
c.862-6579A>G (n.862-6579A>G)
c.168A>G (p.Glu56=)
c.61-6579A>G (n.61-6579A>G)
c.442-6579A>G (n.442-6579A>G)
2g.233760455A>TCA351066000UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6579A>T (n.856-6579A>T)
c.868-6579A>T (n.868-6579A>T)
c.862-6579A>T (n.862-6579A>T)
c.168A>T (p.Glu56Asp)
c.61-6579A>T (n.61-6579A>T)
c.442-6579A>T (n.442-6579A>T)
dbSNP gnomAD v4
2g.233760456A=CA1335893899UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6578A= (n.856-6578A=)
c.868-6578A= (n.868-6578A=)
c.862-6578A= (n.862-6578A=)
c.169A= (p.Ile57=)
c.61-6578A= (n.61-6578A=)
c.442-6578A= (n.442-6578A=)
2g.233760456A>CCA351066001UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6578A>C (n.856-6578A>C)
c.868-6578A>C (n.868-6578A>C)
c.862-6578A>C (n.862-6578A>C)
c.169A>C (p.Ile57Leu)
c.61-6578A>C (n.61-6578A>C)
c.442-6578A>C (n.442-6578A>C)

Number of alleles fetched