Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760432C>ACA351065866UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6602C>A (n.856-6602C>A)
c.868-6602C>A (n.868-6602C>A)
c.862-6602C>A (n.862-6602C>A)
c.145C>A (p.Gln49Lys)
c.61-6602C>A (n.61-6602C>A)
c.442-6602C>A (n.442-6602C>A)
dbSNP
2g.233760432C=CA1335893887UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6602C= (n.856-6602C=)
c.868-6602C= (n.868-6602C=)
c.862-6602C= (n.862-6602C=)
c.145C= (p.Gln49=)
c.61-6602C= (n.61-6602C=)
c.442-6602C= (n.442-6602C=)
2g.233760432C>GCA351065868UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6602C>G (n.856-6602C>G)
c.868-6602C>G (n.868-6602C>G)
c.862-6602C>G (n.862-6602C>G)
c.145C>G (p.Gln49Glu)
c.61-6602C>G (n.61-6602C>G)
c.442-6602C>G (n.442-6602C>G)
dbSNP
2g.233760432C>TCA122074UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6602C>T (n.856-6602C>T)
c.868-6602C>T (n.868-6602C>T)
c.862-6602C>T (n.862-6602C>T)
c.145C>T (p.Gln49Ter)
c.61-6602C>T (n.61-6602C>T)
c.442-6602C>T (n.442-6602C>T)
ClinVar dbSNP
2g.233760433A=CA1335893888UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6601A= (n.856-6601A=)
c.868-6601A= (n.868-6601A=)
c.862-6601A= (n.862-6601A=)
c.146A= (p.Gln49=)
c.61-6601A= (n.61-6601A=)
c.442-6601A= (n.442-6601A=)
2g.233760433A>CCA351065876UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6601A>C (n.856-6601A>C)
c.868-6601A>C (n.868-6601A>C)
c.862-6601A>C (n.862-6601A>C)
c.146A>C (p.Gln49Pro)
c.61-6601A>C (n.61-6601A>C)
c.442-6601A>C (n.442-6601A>C)
2g.233760433A>GCA2179780UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6601A>G (n.856-6601A>G)
c.868-6601A>G (n.868-6601A>G)
c.862-6601A>G (n.862-6601A>G)
c.146A>G (p.Gln49Arg)
c.61-6601A>G (n.61-6601A>G)
c.442-6601A>G (n.442-6601A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760433A>TCA351065874UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6601A>T (n.856-6601A>T)
c.868-6601A>T (n.868-6601A>T)
c.862-6601A>T (n.862-6601A>T)
c.146A>T (p.Gln49Leu)
c.61-6601A>T (n.61-6601A>T)
c.442-6601A>T (n.442-6601A>T)
dbSNP
2g.233760434G>ACA431960101UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6600G>A (n.856-6600G>A)
c.868-6600G>A (n.868-6600G>A)
c.862-6600G>A (n.862-6600G>A)
c.147G>A (p.Gln49=)
c.61-6600G>A (n.61-6600G>A)
c.442-6600G>A (n.442-6600G>A)
2g.233760434G>CCA351065879UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6600G>C (n.856-6600G>C)
c.868-6600G>C (n.868-6600G>C)
c.862-6600G>C (n.862-6600G>C)
c.147G>C (p.Gln49His)
c.61-6600G>C (n.61-6600G>C)
c.442-6600G>C (n.442-6600G>C)
2g.233760434G>TCA351065880UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6600G>T (n.856-6600G>T)
c.868-6600G>T (n.868-6600G>T)
c.862-6600G>T (n.862-6600G>T)
c.147G>T (p.Gln49His)
c.61-6600G>T (n.61-6600G>T)
c.442-6600G>T (n.442-6600G>T)
2g.233760435C>ACA351065882UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6599C>A (n.856-6599C>A)
c.868-6599C>A (n.868-6599C>A)
c.862-6599C>A (n.862-6599C>A)
c.148C>A (p.Leu50Met)
c.61-6599C>A (n.61-6599C>A)
c.442-6599C>A (n.442-6599C>A)
dbSNP
2g.233760435C>GCA351065883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6599C>G (n.856-6599C>G)
c.868-6599C>G (n.868-6599C>G)
c.862-6599C>G (n.862-6599C>G)
c.148C>G (p.Leu50Val)
c.61-6599C>G (n.61-6599C>G)
c.442-6599C>G (n.442-6599C>G)
dbSNP gnomAD v4
2g.233760435C>TCA431960102UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6599C>T (n.856-6599C>T)
c.868-6599C>T (n.868-6599C>T)
c.862-6599C>T (n.862-6599C>T)
c.148C>T (p.Leu50=)
c.61-6599C>T (n.61-6599C>T)
c.442-6599C>T (n.442-6599C>T)
2g.233760436T>ACA351065886UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6598T>A (n.856-6598T>A)
c.868-6598T>A (n.868-6598T>A)
c.862-6598T>A (n.862-6598T>A)
c.149T>A (p.Leu50Gln)
c.61-6598T>A (n.61-6598T>A)
c.442-6598T>A (n.442-6598T>A)
2g.233760436T>CCA351065889UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6598T>C (n.856-6598T>C)
c.868-6598T>C (n.868-6598T>C)
c.862-6598T>C (n.862-6598T>C)
c.149T>C (p.Leu50Pro)
c.61-6598T>C (n.61-6598T>C)
c.442-6598T>C (n.442-6598T>C)
2g.233760436T>GCA351065891UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6598T>G (n.856-6598T>G)
c.868-6598T>G (n.868-6598T>G)
c.862-6598T>G (n.862-6598T>G)
c.149T>G (p.Leu50Arg)
c.61-6598T>G (n.61-6598T>G)
c.442-6598T>G (n.442-6598T>G)
ClinVar dbSNP
2g.233760437G>ACA431960104UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6597G>A (n.856-6597G>A)
c.868-6597G>A (n.868-6597G>A)
c.862-6597G>A (n.862-6597G>A)
c.150G>A (p.Leu50=)
c.61-6597G>A (n.61-6597G>A)
c.442-6597G>A (n.442-6597G>A)
dbSNP gnomAD v3 gnomAD v4
2g.233760437G>CCA431960105UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6597G>C (n.856-6597G>C)
c.868-6597G>C (n.868-6597G>C)
c.862-6597G>C (n.862-6597G>C)
c.150G>C (p.Leu50=)
c.61-6597G>C (n.61-6597G>C)
c.442-6597G>C (n.442-6597G>C)
dbSNP
2g.233760437G=CA1335893889UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6597G= (n.856-6597G=)
c.868-6597G= (n.868-6597G=)
c.862-6597G= (n.862-6597G=)
c.150G= (p.Leu50=)
c.61-6597G= (n.61-6597G=)
c.442-6597G= (n.442-6597G=)
2g.233760437G>TCA431960106UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6597G>T (n.856-6597G>T)
c.868-6597G>T (n.868-6597G>T)
c.862-6597G>T (n.862-6597G>T)
c.150G>T (p.Leu50=)
c.61-6597G>T (n.61-6597G>T)
c.442-6597G>T (n.442-6597G>T)
2g.233760438C>ACA351065898UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6596C>A (n.856-6596C>A)
c.868-6596C>A (n.868-6596C>A)
c.862-6596C>A (n.862-6596C>A)
c.151C>A (p.Gln51Lys)
c.61-6596C>A (n.61-6596C>A)
c.442-6596C>A (n.442-6596C>A)
dbSNP
2g.233760438C>GCA351065895UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6596C>G (n.856-6596C>G)
c.868-6596C>G (n.868-6596C>G)
c.862-6596C>G (n.862-6596C>G)
c.151C>G (p.Gln51Glu)
c.61-6596C>G (n.61-6596C>G)
c.442-6596C>G (n.442-6596C>G)
dbSNP
2g.233760438C>TCA351065897UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6596C>T (n.856-6596C>T)
c.868-6596C>T (n.868-6596C>T)
c.862-6596C>T (n.862-6596C>T)
c.151C>T (p.Gln51Ter)
c.61-6596C>T (n.61-6596C>T)
c.442-6596C>T (n.442-6596C>T)
dbSNP
2g.233760439A=CA1335893890UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6595A= (n.856-6595A=)
c.868-6595A= (n.868-6595A=)
c.862-6595A= (n.862-6595A=)
c.152A= (p.Gln51=)
c.61-6595A= (n.61-6595A=)
c.442-6595A= (n.442-6595A=)
2g.233760439A>CCA351065900UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6595A>C (n.856-6595A>C)
c.868-6595A>C (n.868-6595A>C)
c.862-6595A>C (n.862-6595A>C)
c.152A>C (p.Gln51Pro)
c.61-6595A>C (n.61-6595A>C)
c.442-6595A>C (n.442-6595A>C)
dbSNP gnomAD v4
2g.233760439A>GCA351065901UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6595A>G (n.856-6595A>G)
c.868-6595A>G (n.868-6595A>G)
c.862-6595A>G (n.862-6595A>G)
c.152A>G (p.Gln51Arg)
c.61-6595A>G (n.61-6595A>G)
c.442-6595A>G (n.442-6595A>G)
dbSNP
2g.233760439A>TCA351065905UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6595A>T (n.856-6595A>T)
c.868-6595A>T (n.868-6595A>T)
c.862-6595A>T (n.862-6595A>T)
c.152A>T (p.Gln51Leu)
c.61-6595A>T (n.61-6595A>T)
c.442-6595A>T (n.442-6595A>T)
dbSNP
2g.233760440G>ACA431960108UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6594G>A (n.856-6594G>A)
c.868-6594G>A (n.868-6594G>A)
c.862-6594G>A (n.862-6594G>A)
c.153G>A (p.Gln51=)
c.61-6594G>A (n.61-6594G>A)
c.442-6594G>A (n.442-6594G>A)
dbSNP gnomAD v4
2g.233760440G>CCA351065907UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6594G>C (n.856-6594G>C)
c.868-6594G>C (n.868-6594G>C)
c.862-6594G>C (n.862-6594G>C)
c.153G>C (p.Gln51His)
c.61-6594G>C (n.61-6594G>C)
c.442-6594G>C (n.442-6594G>C)
dbSNP
2g.233760440G=CA1335893891UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6594G= (n.856-6594G=)
c.868-6594G= (n.868-6594G=)
c.862-6594G= (n.862-6594G=)
c.153G= (p.Gln51=)
c.61-6594G= (n.61-6594G=)
c.442-6594G= (n.442-6594G=)
2g.233760440G>TCA351065910UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6594G>T (n.856-6594G>T)
c.868-6594G>T (n.868-6594G>T)
c.862-6594G>T (n.862-6594G>T)
c.153G>T (p.Gln51His)
c.61-6594G>T (n.61-6594G>T)
c.442-6594G>T (n.442-6594G>T)
dbSNP
2g.233760441C>ACA351065913UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6593C>A (n.856-6593C>A)
c.868-6593C>A (n.868-6593C>A)
c.862-6593C>A (n.862-6593C>A)
c.154C>A (p.Gln52Lys)
c.61-6593C>A (n.61-6593C>A)
c.442-6593C>A (n.442-6593C>A)
2g.233760441C>GCA351065919UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6593C>G (n.856-6593C>G)
c.868-6593C>G (n.868-6593C>G)
c.862-6593C>G (n.862-6593C>G)
c.154C>G (p.Gln52Glu)
c.61-6593C>G (n.61-6593C>G)
c.442-6593C>G (n.442-6593C>G)
dbSNP
2g.233760441C>TCA351065916UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6593C>T (n.856-6593C>T)
c.868-6593C>T (n.868-6593C>T)
c.862-6593C>T (n.862-6593C>T)
c.154C>T (p.Gln52Ter)
c.61-6593C>T (n.61-6593C>T)
c.442-6593C>T (n.442-6593C>T)
dbSNP gnomAD v4
2g.233760442A>CCA351065922UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6592A>C (n.856-6592A>C)
c.868-6592A>C (n.868-6592A>C)
c.862-6592A>C (n.862-6592A>C)
c.155A>C (p.Gln52Pro)
c.61-6592A>C (n.61-6592A>C)
c.442-6592A>C (n.442-6592A>C)
2g.233760442A>GCA351065924UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6592A>G (n.856-6592A>G)
c.868-6592A>G (n.868-6592A>G)
c.862-6592A>G (n.862-6592A>G)
c.155A>G (p.Gln52Arg)
c.61-6592A>G (n.61-6592A>G)
c.442-6592A>G (n.442-6592A>G)
2g.233760442A>TCA351065927UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6592A>T (n.856-6592A>T)
c.868-6592A>T (n.868-6592A>T)
c.862-6592A>T (n.862-6592A>T)
c.155A>T (p.Gln52Leu)
c.61-6592A>T (n.61-6592A>T)
c.442-6592A>T (n.442-6592A>T)
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)

Number of alleles fetched