Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760705delCA2582342832UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6329del (n.856-6329del)
c.868-6329del (n.868-6329del)
c.862-6329del (n.862-6329del)
c.418del (p.Leu140TrpfsTer10)
c.61-6329del (n.61-6329del)
c.442-6329del (n.442-6329del)
2g.233760704C>ACA431960416UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6330C>A (n.856-6330C>A)
c.868-6330C>A (n.868-6330C>A)
c.862-6330C>A (n.862-6330C>A)
c.417C>A (p.Ser139=)
c.61-6330C>A (n.61-6330C>A)
c.442-6330C>A (n.442-6330C>A)
2g.233760704C>GCA431960415UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6330C>G (n.856-6330C>G)
c.868-6330C>G (n.868-6330C>G)
c.862-6330C>G (n.862-6330C>G)
c.417C>G (p.Ser139=)
c.61-6330C>G (n.61-6330C>G)
c.442-6330C>G (n.442-6330C>G)
2g.233760704C>TCA431960414UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6330C>T (n.856-6330C>T)
c.868-6330C>T (n.868-6330C>T)
c.862-6330C>T (n.862-6330C>T)
c.417C>T (p.Ser139=)
c.61-6330C>T (n.61-6330C>T)
c.442-6330C>T (n.442-6330C>T)
2g.233760705C>ACA351066632UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6329C>A (n.856-6329C>A)
c.868-6329C>A (n.868-6329C>A)
c.862-6329C>A (n.862-6329C>A)
c.418C>A (p.Leu140Met)
c.61-6329C>A (n.61-6329C>A)
c.442-6329C>A (n.442-6329C>A)
2g.233760705C>GCA351066633UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6329C>G (n.856-6329C>G)
c.868-6329C>G (n.868-6329C>G)
c.862-6329C>G (n.862-6329C>G)
c.418C>G (p.Leu140Val)
c.61-6329C>G (n.61-6329C>G)
c.442-6329C>G (n.442-6329C>G)
2g.233760705C>TCA431960417UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6329C>T (n.856-6329C>T)
c.868-6329C>T (n.868-6329C>T)
c.862-6329C>T (n.862-6329C>T)
c.418C>T (p.Leu140=)
c.61-6329C>T (n.61-6329C>T)
c.442-6329C>T (n.442-6329C>T)
gnomAD v4
2g.233760706T>ACA351066634UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6328T>A (n.856-6328T>A)
c.868-6328T>A (n.868-6328T>A)
c.862-6328T>A (n.862-6328T>A)
c.419T>A (p.Leu140Gln)
c.61-6328T>A (n.61-6328T>A)
c.442-6328T>A (n.442-6328T>A)
2g.233760706T>CCA351066635UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6328T>C (n.856-6328T>C)
c.868-6328T>C (n.868-6328T>C)
c.862-6328T>C (n.862-6328T>C)
c.419T>C (p.Leu140Pro)
c.61-6328T>C (n.61-6328T>C)
c.442-6328T>C (n.442-6328T>C)
2g.233760706T>GCA351066636UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6328T>G (n.856-6328T>G)
c.868-6328T>G (n.868-6328T>G)
c.862-6328T>G (n.862-6328T>G)
c.419T>G (p.Leu140Arg)
c.61-6328T>G (n.61-6328T>G)
c.442-6328T>G (n.442-6328T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760706T=CA1335889354UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6328T= (n.856-6328T=)
c.868-6328T= (n.868-6328T=)
c.862-6328T= (n.862-6328T=)
c.419T= (p.Leu140=)
c.61-6328T= (n.61-6328T=)
c.442-6328T= (n.442-6328T=)
2g.233760707G>ACA67589934UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6327G>A (n.856-6327G>A)
c.868-6327G>A (n.868-6327G>A)
c.862-6327G>A (n.862-6327G>A)
c.420G>A (p.Leu140=)
c.61-6327G>A (n.61-6327G>A)
c.442-6327G>A (n.442-6327G>A)
dbSNP gnomAD v3 gnomAD v4
2g.233760707G>CCA431960419UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6327G>C (n.856-6327G>C)
c.868-6327G>C (n.868-6327G>C)
c.862-6327G>C (n.862-6327G>C)
c.420G>C (p.Leu140=)
c.61-6327G>C (n.61-6327G>C)
c.442-6327G>C (n.442-6327G>C)
2g.233760707G=CA1335889356UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6327G= (n.856-6327G=)
c.868-6327G= (n.868-6327G=)
c.862-6327G= (n.862-6327G=)
c.420G= (p.Leu140=)
c.61-6327G= (n.61-6327G=)
c.442-6327G= (n.442-6327G=)
2g.233760707G>TCA431960418UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6327G>T (n.856-6327G>T)
c.868-6327G>T (n.868-6327G>T)
c.862-6327G>T (n.862-6327G>T)
c.420G>T (p.Leu140=)
c.61-6327G>T (n.61-6327G>T)
c.442-6327G>T (n.442-6327G>T)
2g.233760708G>ACA351066637UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6326G>A (n.856-6326G>A)
c.868-6326G>A (n.868-6326G>A)
c.862-6326G>A (n.862-6326G>A)
c.421G>A (p.Ala141Thr)
c.61-6326G>A (n.61-6326G>A)
c.442-6326G>A (n.442-6326G>A)
gnomAD v4
2g.233760708G>CCA351066638UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6326G>C (n.856-6326G>C)
c.868-6326G>C (n.868-6326G>C)
c.862-6326G>C (n.862-6326G>C)
c.421G>C (p.Ala141Pro)
c.61-6326G>C (n.61-6326G>C)
c.442-6326G>C (n.442-6326G>C)
2g.233760708G>TCA351066639UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6326G>T (n.856-6326G>T)
c.868-6326G>T (n.868-6326G>T)
c.862-6326G>T (n.862-6326G>T)
c.421G>T (p.Ala141Ser)
c.61-6326G>T (n.61-6326G>T)
c.442-6326G>T (n.442-6326G>T)
2g.233760709C>ACA2179823UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6325C>A (n.856-6325C>A)
c.868-6325C>A (n.868-6325C>A)
c.862-6325C>A (n.862-6325C>A)
c.422C>A (p.Ala141Glu)
c.61-6325C>A (n.61-6325C>A)
c.442-6325C>A (n.442-6325C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760709C=CA1335889359UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6325C= (n.856-6325C=)
c.868-6325C= (n.868-6325C=)
c.862-6325C= (n.862-6325C=)
c.422C= (p.Ala141=)
c.61-6325C= (n.61-6325C=)
c.442-6325C= (n.442-6325C=)
2g.233760709C>GCA351066641UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6325C>G (n.856-6325C>G)
c.868-6325C>G (n.868-6325C>G)
c.862-6325C>G (n.862-6325C>G)
c.422C>G (p.Ala141Gly)
c.61-6325C>G (n.61-6325C>G)
c.442-6325C>G (n.442-6325C>G)
2g.233760709C>TCA351066640UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6325C>T (n.856-6325C>T)
c.868-6325C>T (n.868-6325C>T)
c.862-6325C>T (n.862-6325C>T)
c.422C>T (p.Ala141Val)
c.61-6325C>T (n.61-6325C>T)
c.442-6325C>T (n.442-6325C>T)
2g.233760710A>CCA431960420UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6324A>C (n.856-6324A>C)
c.868-6324A>C (n.868-6324A>C)
c.862-6324A>C (n.862-6324A>C)
c.423A>C (p.Ala141=)
c.61-6324A>C (n.61-6324A>C)
c.442-6324A>C (n.442-6324A>C)
2g.233760710A>GCA431960422UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6324A>G (n.856-6324A>G)
c.868-6324A>G (n.868-6324A>G)
c.862-6324A>G (n.862-6324A>G)
c.423A>G (p.Ala141=)
c.61-6324A>G (n.61-6324A>G)
c.442-6324A>G (n.442-6324A>G)
2g.233760710A>TCA431960421UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6324A>T (n.856-6324A>T)
c.868-6324A>T (n.868-6324A>T)
c.862-6324A>T (n.862-6324A>T)
c.423A>T (p.Ala141=)
c.61-6324A>T (n.61-6324A>T)
c.442-6324A>T (n.442-6324A>T)
2g.233760711G>ACA351066642UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6323G>A (n.856-6323G>A)
c.868-6323G>A (n.868-6323G>A)
c.862-6323G>A (n.862-6323G>A)
c.424G>A (p.Glu142Lys)
c.61-6323G>A (n.61-6323G>A)
c.442-6323G>A (n.442-6323G>A)
2g.233760711G>CCA351066643UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6323G>C (n.856-6323G>C)
c.868-6323G>C (n.868-6323G>C)
c.862-6323G>C (n.862-6323G>C)
c.424G>C (p.Glu142Gln)
c.61-6323G>C (n.61-6323G>C)
c.442-6323G>C (n.442-6323G>C)
2g.233760711G>TCA351066644UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6323G>T (n.856-6323G>T)
c.868-6323G>T (n.868-6323G>T)
c.862-6323G>T (n.862-6323G>T)
c.424G>T (p.Glu142Ter)
c.61-6323G>T (n.61-6323G>T)
c.442-6323G>T (n.442-6323G>T)
2g.233760712A>CCA351066645UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6322A>C (n.856-6322A>C)
c.868-6322A>C (n.868-6322A>C)
c.862-6322A>C (n.862-6322A>C)
c.425A>C (p.Glu142Ala)
c.61-6322A>C (n.61-6322A>C)
c.442-6322A>C (n.442-6322A>C)
2g.233760712A>GCA351066646UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6322A>G (n.856-6322A>G)
c.868-6322A>G (n.868-6322A>G)
c.862-6322A>G (n.862-6322A>G)
c.425A>G (p.Glu142Gly)
c.61-6322A>G (n.61-6322A>G)
c.442-6322A>G (n.442-6322A>G)
2g.233760712A>TCA351066647UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6322A>T (n.856-6322A>T)
c.868-6322A>T (n.868-6322A>T)
c.862-6322A>T (n.862-6322A>T)
c.425A>T (p.Glu142Val)
c.61-6322A>T (n.61-6322A>T)
c.442-6322A>T (n.442-6322A>T)
2g.233760713A=CA1335889362UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6321A= (n.856-6321A=)
c.868-6321A= (n.868-6321A=)
c.862-6321A= (n.862-6321A=)
c.426A= (p.Glu142=)
c.61-6321A= (n.61-6321A=)
c.442-6321A= (n.442-6321A=)
2g.233760713A>CCA351066648UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6321A>C (n.856-6321A>C)
c.868-6321A>C (n.868-6321A>C)
c.862-6321A>C (n.862-6321A>C)
c.426A>C (p.Glu142Asp)
c.61-6321A>C (n.61-6321A>C)
c.442-6321A>C (n.442-6321A>C)
2g.233760713A>GCA431960423UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6321A>G (n.856-6321A>G)
c.868-6321A>G (n.868-6321A>G)
c.862-6321A>G (n.862-6321A>G)
c.426A>G (p.Glu142=)
c.61-6321A>G (n.61-6321A>G)
c.442-6321A>G (n.442-6321A>G)
dbSNP gnomAD v3 gnomAD v4
2g.233760713A>TCA351066649UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6321A>T (n.856-6321A>T)
c.868-6321A>T (n.868-6321A>T)
c.862-6321A>T (n.862-6321A>T)
c.426A>T (p.Glu142Asp)
c.61-6321A>T (n.61-6321A>T)
c.442-6321A>T (n.442-6321A>T)
2g.233760714A>CCA351066650UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6320A>C (n.856-6320A>C)
c.868-6320A>C (n.868-6320A>C)
c.862-6320A>C (n.862-6320A>C)
c.427A>C (p.Ser143Arg)
c.61-6320A>C (n.61-6320A>C)
c.442-6320A>C (n.442-6320A>C)
2g.233760714A>GCA351066651UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6320A>G (n.856-6320A>G)
c.868-6320A>G (n.868-6320A>G)
c.862-6320A>G (n.862-6320A>G)
c.427A>G (p.Ser143Gly)
c.61-6320A>G (n.61-6320A>G)
c.442-6320A>G (n.442-6320A>G)
gnomAD v4
2g.233760714A>TCA351066652UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6320A>T (n.856-6320A>T)
c.868-6320A>T (n.868-6320A>T)
c.862-6320A>T (n.862-6320A>T)
c.427A>T (p.Ser143Cys)
c.61-6320A>T (n.61-6320A>T)
c.442-6320A>T (n.442-6320A>T)
2g.233760715G>ACA351066653UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6319G>A (n.856-6319G>A)
c.868-6319G>A (n.868-6319G>A)
c.862-6319G>A (n.862-6319G>A)
c.428G>A (p.Ser143Asn)
c.61-6319G>A (n.61-6319G>A)
c.442-6319G>A (n.442-6319G>A)
ClinVar dbSNP gnomAD v4
2g.233760715G>CCA351066654UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6319G>C (n.856-6319G>C)
c.868-6319G>C (n.868-6319G>C)
c.862-6319G>C (n.862-6319G>C)
c.428G>C (p.Ser143Thr)
c.61-6319G>C (n.61-6319G>C)
c.442-6319G>C (n.442-6319G>C)
2g.233760715G=CA1335889365UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6319G= (n.856-6319G=)
c.868-6319G= (n.868-6319G=)
c.862-6319G= (n.862-6319G=)
c.428G= (p.Ser143=)
c.61-6319G= (n.61-6319G=)
c.442-6319G= (n.442-6319G=)
2g.233760715G>TCA351066655UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6319G>T (n.856-6319G>T)
c.868-6319G>T (n.868-6319G>T)
c.862-6319G>T (n.862-6319G>T)
c.428G>T (p.Ser143Ile)
c.61-6319G>T (n.61-6319G>T)
c.442-6319G>T (n.442-6319G>T)
2g.233760716C>ACA351066656UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6318C>A (n.856-6318C>A)
c.868-6318C>A (n.868-6318C>A)
c.862-6318C>A (n.862-6318C>A)
c.429C>A (p.Ser143Arg)
c.61-6318C>A (n.61-6318C>A)
c.442-6318C>A (n.442-6318C>A)
COSMIC COSMIC
2g.233760716C=CA1335889367UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6318C= (n.856-6318C=)
c.868-6318C= (n.868-6318C=)
c.862-6318C= (n.862-6318C=)
c.429C= (p.Ser143=)
c.61-6318C= (n.61-6318C=)
c.442-6318C= (n.442-6318C=)
2g.233760716C>GCA351066657UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6318C>G (n.856-6318C>G)
c.868-6318C>G (n.868-6318C>G)
c.862-6318C>G (n.862-6318C>G)
c.429C>G (p.Ser143Arg)
c.61-6318C>G (n.61-6318C>G)
c.442-6318C>G (n.442-6318C>G)
2g.233760716C>TCA431960424UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6318C>T (n.856-6318C>T)
c.868-6318C>T (n.868-6318C>T)
c.862-6318C>T (n.862-6318C>T)
c.429C>T (p.Ser143=)
c.61-6318C>T (n.61-6318C>T)
c.442-6318C>T (n.442-6318C>T)
dbSNP gnomAD v4
2g.233760717A>CCA351066658UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6317A>C (n.856-6317A>C)
c.868-6317A>C (n.868-6317A>C)
c.862-6317A>C (n.862-6317A>C)
c.430A>C (p.Ser144Arg)
c.61-6317A>C (n.61-6317A>C)
c.442-6317A>C (n.442-6317A>C)
2g.233760717A>GCA351066659UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6317A>G (n.856-6317A>G)
c.868-6317A>G (n.868-6317A>G)
c.862-6317A>G (n.862-6317A>G)
c.430A>G (p.Ser144Gly)
c.61-6317A>G (n.61-6317A>G)
c.442-6317A>G (n.442-6317A>G)
2g.233760717A>TCA351066660UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6317A>T (n.856-6317A>T)
c.868-6317A>T (n.868-6317A>T)
c.862-6317A>T (n.862-6317A>T)
c.430A>T (p.Ser144Cys)
c.61-6317A>T (n.61-6317A>T)
c.442-6317A>T (n.442-6317A>T)
2g.233760718G>ACA351066661UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6316G>A (n.856-6316G>A)
c.868-6316G>A (n.868-6316G>A)
c.862-6316G>A (n.862-6316G>A)
c.431G>A (p.Ser144Asn)
c.61-6316G>A (n.61-6316G>A)
c.442-6316G>A (n.442-6316G>A)

Number of alleles fetched