Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760391T>A | CA351065615 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6643T>A (n.856-6643T>A) c.868-6643T>A (n.868-6643T>A) c.862-6643T>A (n.862-6643T>A) c.104T>A (p.Val35Glu) c.61-6643T>A (n.61-6643T>A) c.442-6643T>A (n.442-6643T>A) | |
2 | g.233760391T>C | CA351065618 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6643T>C (n.856-6643T>C) c.868-6643T>C (n.868-6643T>C) c.862-6643T>C (n.862-6643T>C) c.104T>C (p.Val35Ala) c.61-6643T>C (n.61-6643T>C) c.442-6643T>C (n.442-6643T>C) | |
2 | g.233760391T>G | CA351065621 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6643T>G (n.856-6643T>G) c.868-6643T>G (n.868-6643T>G) c.862-6643T>G (n.862-6643T>G) c.104T>G (p.Val35Gly) c.61-6643T>G (n.61-6643T>G) c.442-6643T>G (n.442-6643T>G) | |
2 | g.233760392G>A | CA431960059 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6642G>A (n.856-6642G>A) c.868-6642G>A (n.868-6642G>A) c.862-6642G>A (n.862-6642G>A) c.105G>A (p.Val35=) c.61-6642G>A (n.61-6642G>A) c.442-6642G>A (n.442-6642G>A) | dbSNP |
2 | g.233760392G>C | CA431960057 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6642G>C (n.856-6642G>C) c.868-6642G>C (n.868-6642G>C) c.862-6642G>C (n.862-6642G>C) c.105G>C (p.Val35=) c.61-6642G>C (n.61-6642G>C) c.442-6642G>C (n.442-6642G>C) | |
2 | g.233760392G>T | CA431960060 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6642G>T (n.856-6642G>T) c.868-6642G>T (n.868-6642G>T) c.862-6642G>T (n.862-6642G>T) c.105G>T (p.Val35=) c.61-6642G>T (n.61-6642G>T) c.442-6642G>T (n.442-6642G>T) | |
2 | g.233760393G>A | CA351065623 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6641G>A (n.856-6641G>A) c.868-6641G>A (n.868-6641G>A) c.862-6641G>A (n.862-6641G>A) c.106G>A (p.Asp36Asn) c.61-6641G>A (n.61-6641G>A) c.442-6641G>A (n.442-6641G>A) | dbSNP gnomAD v4 |
2 | g.233760393G>C | CA351065626 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6641G>C (n.856-6641G>C) c.868-6641G>C (n.868-6641G>C) c.862-6641G>C (n.862-6641G>C) c.106G>C (p.Asp36His) c.61-6641G>C (n.61-6641G>C) c.442-6641G>C (n.442-6641G>C) | dbSNP |
2 | g.233760393G= | CA1335893867 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6641G= (n.856-6641G=) c.868-6641G= (n.868-6641G=) c.862-6641G= (n.862-6641G=) c.106G= (p.Asp36=) c.61-6641G= (n.61-6641G=) c.442-6641G= (n.442-6641G=) | |
2 | g.233760393G>T | CA351065628 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6641G>T (n.856-6641G>T) c.868-6641G>T (n.868-6641G>T) c.862-6641G>T (n.862-6641G>T) c.106G>T (p.Asp36Tyr) c.61-6641G>T (n.61-6641G>T) c.442-6641G>T (n.442-6641G>T) | |
2 | g.233760394A= | CA1335893868 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6640A= (n.856-6640A=) c.868-6640A= (n.868-6640A=) c.862-6640A= (n.862-6640A=) c.107A= (p.Asp36=) c.61-6640A= (n.61-6640A=) c.442-6640A= (n.442-6640A=) | |
2 | g.233760394A>C | CA351065637 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6640A>C (n.856-6640A>C) c.868-6640A>C (n.868-6640A>C) c.862-6640A>C (n.862-6640A>C) c.107A>C (p.Asp36Ala) c.61-6640A>C (n.61-6640A>C) c.442-6640A>C (n.442-6640A>C) | dbSNP |
2 | g.233760394A>G | CA351065635 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6640A>G (n.856-6640A>G) c.868-6640A>G (n.868-6640A>G) c.862-6640A>G (n.862-6640A>G) c.107A>G (p.Asp36Gly) c.61-6640A>G (n.61-6640A>G) c.442-6640A>G (n.442-6640A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760394A>T | CA351065632 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6640A>T (n.856-6640A>T) c.868-6640A>T (n.868-6640A>T) c.862-6640A>T (n.862-6640A>T) c.107A>T (p.Asp36Val) c.61-6640A>T (n.61-6640A>T) c.442-6640A>T (n.442-6640A>T) | dbSNP |
2 | g.233760395T>A | CA351065642 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6639T>A (n.856-6639T>A) c.868-6639T>A (n.868-6639T>A) c.862-6639T>A (n.862-6639T>A) c.108T>A (p.Asp36Glu) c.61-6639T>A (n.61-6639T>A) c.442-6639T>A (n.442-6639T>A) | dbSNP |
2 | g.233760395T>C | CA431960061 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6639T>C (n.856-6639T>C) c.868-6639T>C (n.868-6639T>C) c.862-6639T>C (n.862-6639T>C) c.108T>C (p.Asp36=) c.61-6639T>C (n.61-6639T>C) c.442-6639T>C (n.442-6639T>C) | |
2 | g.233760395T>G | CA351065643 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6639T>G (n.856-6639T>G) c.868-6639T>G (n.868-6639T>G) c.862-6639T>G (n.862-6639T>G) c.108T>G (p.Asp36Glu) c.61-6639T>G (n.61-6639T>G) c.442-6639T>G (n.442-6639T>G) | dbSNP |
2 | g.233760395T= | CA1335893869 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6639T= (n.856-6639T=) c.868-6639T= (n.868-6639T=) c.862-6639T= (n.862-6639T=) c.108T= (p.Asp36=) c.61-6639T= (n.61-6639T=) c.442-6639T= (n.442-6639T=) | |
2 | g.233760396G>A | CA351065647 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6638G>A (n.856-6638G>A) c.868-6638G>A (n.868-6638G>A) c.862-6638G>A (n.862-6638G>A) c.109G>A (p.Gly37Ser) c.61-6638G>A (n.61-6638G>A) c.442-6638G>A (n.442-6638G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760396G>C | CA351065648 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6638G>C (n.856-6638G>C) c.868-6638G>C (n.868-6638G>C) c.862-6638G>C (n.862-6638G>C) c.109G>C (p.Gly37Arg) c.61-6638G>C (n.61-6638G>C) c.442-6638G>C (n.442-6638G>C) | |
2 | g.233760396G= | CA1335893870 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6638G= (n.856-6638G=) c.868-6638G= (n.868-6638G=) c.862-6638G= (n.862-6638G=) c.109G= (p.Gly37=) c.61-6638G= (n.61-6638G=) c.442-6638G= (n.442-6638G=) | |
2 | g.233760396G>T | CA351065651 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6638G>T (n.856-6638G>T) c.868-6638G>T (n.868-6638G>T) c.862-6638G>T (n.862-6638G>T) c.109G>T (p.Gly37Cys) c.61-6638G>T (n.61-6638G>T) c.442-6638G>T (n.442-6638G>T) | |
2 | g.233760397G>A | CA351065654 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6637G>A (n.856-6637G>A) c.868-6637G>A (n.868-6637G>A) c.862-6637G>A (n.862-6637G>A) c.110G>A (p.Gly37Asp) c.61-6637G>A (n.61-6637G>A) c.442-6637G>A (n.442-6637G>A) | ClinVar dbSNP |
2 | g.233760397G>C | CA351065657 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6637G>C (n.856-6637G>C) c.868-6637G>C (n.868-6637G>C) c.862-6637G>C (n.862-6637G>C) c.110G>C (p.Gly37Ala) c.61-6637G>C (n.61-6637G>C) c.442-6637G>C (n.442-6637G>C) | dbSNP |
2 | g.233760397G= | CA1335893871 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6637G= (n.856-6637G=) c.868-6637G= (n.868-6637G=) c.862-6637G= (n.862-6637G=) c.110G= (p.Gly37=) c.61-6637G= (n.61-6637G=) c.442-6637G= (n.442-6637G=) | |
2 | g.233760397G>T | CA2179776 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6637G>T (n.856-6637G>T) c.868-6637G>T (n.868-6637G>T) c.862-6637G>T (n.862-6637G>T) c.110G>T (p.Gly37Val) c.61-6637G>T (n.61-6637G>T) c.442-6637G>T (n.442-6637G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760398C>A | CA67589646 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6636C>A (n.856-6636C>A) c.868-6636C>A (n.868-6636C>A) c.862-6636C>A (n.862-6636C>A) c.111C>A (p.Gly37=) c.61-6636C>A (n.61-6636C>A) c.442-6636C>A (n.442-6636C>A) | ClinVar dbSNP |
2 | g.233760398C= | CA1335893872 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6636C= (n.856-6636C=) c.868-6636C= (n.868-6636C=) c.862-6636C= (n.862-6636C=) c.111C= (p.Gly37=) c.61-6636C= (n.61-6636C=) c.442-6636C= (n.442-6636C=) | |
2 | g.233760398C>G | CA431960064 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6636C>G (n.856-6636C>G) c.868-6636C>G (n.868-6636C>G) c.862-6636C>G (n.862-6636C>G) c.111C>G (p.Gly37=) c.61-6636C>G (n.61-6636C>G) c.442-6636C>G (n.442-6636C>G) | dbSNP |
2 | g.233760398C>T | CA431960065 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6636C>T (n.856-6636C>T) c.868-6636C>T (n.868-6636C>T) c.862-6636C>T (n.862-6636C>T) c.111C>T (p.Gly37=) c.61-6636C>T (n.61-6636C>T) c.442-6636C>T (n.442-6636C>T) | dbSNP gnomAD v4 |
2 | g.233760399A>C | CA351065660 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6635A>C (n.856-6635A>C) c.868-6635A>C (n.868-6635A>C) c.862-6635A>C (n.862-6635A>C) c.112A>C (p.Ser38Arg) c.61-6635A>C (n.61-6635A>C) c.442-6635A>C (n.442-6635A>C) | |
2 | g.233760399A>G | CA351065663 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6635A>G (n.856-6635A>G) c.868-6635A>G (n.868-6635A>G) c.862-6635A>G (n.862-6635A>G) c.112A>G (p.Ser38Gly) c.61-6635A>G (n.61-6635A>G) c.442-6635A>G (n.442-6635A>G) | |
2 | g.233760399A>T | CA351065665 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6635A>T (n.856-6635A>T) c.868-6635A>T (n.868-6635A>T) c.862-6635A>T (n.862-6635A>T) c.112A>T (p.Ser38Cys) c.61-6635A>T (n.61-6635A>T) c.442-6635A>T (n.442-6635A>T) | |
2 | g.233760400G>A | CA351065668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6634G>A (n.856-6634G>A) c.868-6634G>A (n.868-6634G>A) c.862-6634G>A (n.862-6634G>A) c.113G>A (p.Ser38Asn) c.61-6634G>A (n.61-6634G>A) c.442-6634G>A (n.442-6634G>A) | dbSNP |
2 | g.233760400G>C | CA351065669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6634G>C (n.856-6634G>C) c.868-6634G>C (n.868-6634G>C) c.862-6634G>C (n.862-6634G>C) c.113G>C (p.Ser38Thr) c.61-6634G>C (n.61-6634G>C) c.442-6634G>C (n.442-6634G>C) | dbSNP |
2 | g.233760400G>T | CA351065672 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6634G>T (n.856-6634G>T) c.868-6634G>T (n.868-6634G>T) c.862-6634G>T (n.862-6634G>T) c.113G>T (p.Ser38Ile) c.61-6634G>T (n.61-6634G>T) c.442-6634G>T (n.442-6634G>T) | dbSNP |
2 | g.233760401C>A | CA351065675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6633C>A (n.856-6633C>A) c.868-6633C>A (n.868-6633C>A) c.862-6633C>A (n.862-6633C>A) c.114C>A (p.Ser38Arg) c.61-6633C>A (n.61-6633C>A) c.442-6633C>A (n.442-6633C>A) | dbSNP |
2 | g.233760401C>G | CA351065673 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6633C>G (n.856-6633C>G) c.868-6633C>G (n.868-6633C>G) c.862-6633C>G (n.862-6633C>G) c.114C>G (p.Ser38Arg) c.61-6633C>G (n.61-6633C>G) c.442-6633C>G (n.442-6633C>G) | dbSNP |
2 | g.233760401C>T | CA431960068 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6633C>T (n.856-6633C>T) c.868-6633C>T (n.868-6633C>T) c.862-6633C>T (n.862-6633C>T) c.114C>T (p.Ser38=) c.61-6633C>T (n.61-6633C>T) c.442-6633C>T (n.442-6633C>T) | dbSNP gnomAD v4 |
2 | g.233760402C>A | CA351065679 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6632C>A (n.856-6632C>A) c.868-6632C>A (n.868-6632C>A) c.862-6632C>A (n.862-6632C>A) c.115C>A (p.His39Asn) c.61-6632C>A (n.61-6632C>A) c.442-6632C>A (n.442-6632C>A) | dbSNP |
2 | g.233760402C= | CA1335893873 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6632C= (n.856-6632C=) c.868-6632C= (n.868-6632C=) c.862-6632C= (n.862-6632C=) c.115C= (p.His39=) c.61-6632C= (n.61-6632C=) c.442-6632C= (n.442-6632C=) | |
2 | g.233760402C>G | CA67589647 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6632C>G (n.856-6632C>G) c.868-6632C>G (n.868-6632C>G) c.862-6632C>G (n.862-6632C>G) c.115C>G (p.His39Asp) c.61-6632C>G (n.61-6632C>G) c.442-6632C>G (n.442-6632C>G) | dbSNP |
2 | g.233760402C>T | CA351065681 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6632C>T (n.856-6632C>T) c.868-6632C>T (n.868-6632C>T) c.862-6632C>T (n.862-6632C>T) c.115C>T (p.His39Tyr) c.61-6632C>T (n.61-6632C>T) c.442-6632C>T (n.442-6632C>T) | dbSNP |
2 | g.233760403A>C | CA351065683 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6631A>C (n.856-6631A>C) c.868-6631A>C (n.868-6631A>C) c.862-6631A>C (n.862-6631A>C) c.116A>C (p.His39Pro) c.61-6631A>C (n.61-6631A>C) c.442-6631A>C (n.442-6631A>C) | dbSNP |
2 | g.233760403A>G | CA351065687 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6631A>G (n.856-6631A>G) c.868-6631A>G (n.868-6631A>G) c.862-6631A>G (n.862-6631A>G) c.116A>G (p.His39Arg) c.61-6631A>G (n.61-6631A>G) c.442-6631A>G (n.442-6631A>G) | gnomAD v4 |
2 | g.233760403A>T | CA351065690 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6631A>T (n.856-6631A>T) c.868-6631A>T (n.868-6631A>T) c.862-6631A>T (n.862-6631A>T) c.116A>T (p.His39Leu) c.61-6631A>T (n.61-6631A>T) c.442-6631A>T (n.442-6631A>T) | dbSNP gnomAD v4 |
2 | g.233760404C>A | CA351065693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6630C>A (n.856-6630C>A) c.868-6630C>A (n.868-6630C>A) c.862-6630C>A (n.862-6630C>A) c.117C>A (p.His39Gln) c.61-6630C>A (n.61-6630C>A) c.442-6630C>A (n.442-6630C>A) | dbSNP |
2 | g.233760404C= | CA1335893874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6630C= (n.856-6630C=) c.868-6630C= (n.868-6630C=) c.862-6630C= (n.862-6630C=) c.117C= (p.His39=) c.61-6630C= (n.61-6630C=) c.442-6630C= (n.442-6630C=) | |
2 | g.233760404C>G | CA351065691 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6630C>G (n.856-6630C>G) c.868-6630C>G (n.868-6630C>G) c.862-6630C>G (n.862-6630C>G) c.117C>G (p.His39Gln) c.61-6630C>G (n.61-6630C>G) c.442-6630C>G (n.442-6630C>G) | dbSNP |
2 | g.233760404C>T | CA431960072 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6630C>T (n.856-6630C>T) c.868-6630C>T (n.868-6630C>T) c.862-6630C>T (n.862-6630C>T) c.117C>T (p.His39=) c.61-6630C>T (n.61-6630C>T) c.442-6630C>T (n.442-6630C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760405T>A | CA351065695 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6629T>A (n.856-6629T>A) c.868-6629T>A (n.868-6629T>A) c.862-6629T>A (n.862-6629T>A) c.118T>A (p.Trp40Arg) c.61-6629T>A (n.61-6629T>A) c.442-6629T>A (n.442-6629T>A) | |
2 | g.233760405T>C | CA351065698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6629T>C (n.856-6629T>C) c.868-6629T>C (n.868-6629T>C) c.862-6629T>C (n.862-6629T>C) c.118T>C (p.Trp40Arg) c.61-6629T>C (n.61-6629T>C) c.442-6629T>C (n.442-6629T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760405T>G | CA351065701 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6629T>G (n.856-6629T>G) c.868-6629T>G (n.868-6629T>G) c.862-6629T>G (n.862-6629T>G) c.118T>G (p.Trp40Gly) c.61-6629T>G (n.61-6629T>G) c.442-6629T>G (n.442-6629T>G) | |
2 | g.233760405T= | CA1335893875 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6629T= (n.856-6629T=) c.868-6629T= (n.868-6629T=) c.862-6629T= (n.862-6629T=) c.118T= (p.Trp40=) c.61-6629T= (n.61-6629T=) c.442-6629T= (n.442-6629T=) | |
2 | g.233760405_233760410del | CA2754693302 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6629_856-6624del (n.856-6629_856-6624del) c.868-6629_868-6624del (n.868-6629_868-6624del) c.862-6629_862-6624del (n.862-6629_862-6624del) c.118_123del (p.Trp40_Leu41del) c.61-6629_61-6624del (n.61-6629_61-6624del) c.442-6629_442-6624del (n.442-6629_442-6624del) | |
2 | g.233760406G>A | CA351065703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6628G>A (n.856-6628G>A) c.868-6628G>A (n.868-6628G>A) c.862-6628G>A (n.862-6628G>A) c.119G>A (p.Trp40Ter) c.61-6628G>A (n.61-6628G>A) c.442-6628G>A (n.442-6628G>A) | dbSNP |
2 | g.233760406G>C | CA351065704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6628G>C (n.856-6628G>C) c.868-6628G>C (n.868-6628G>C) c.862-6628G>C (n.862-6628G>C) c.119G>C (p.Trp40Ser) c.61-6628G>C (n.61-6628G>C) c.442-6628G>C (n.442-6628G>C) | |
2 | g.233760406G>T | CA351065707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6628G>T (n.856-6628G>T) c.868-6628G>T (n.868-6628G>T) c.862-6628G>T (n.862-6628G>T) c.119G>T (p.Trp40Leu) c.61-6628G>T (n.61-6628G>T) c.442-6628G>T (n.442-6628G>T) | dbSNP |
2 | g.233760407G>A | CA2179777 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6627G>A (n.856-6627G>A) c.868-6627G>A (n.868-6627G>A) c.862-6627G>A (n.862-6627G>A) c.120G>A (p.Trp40Ter) c.61-6627G>A (n.61-6627G>A) c.442-6627G>A (n.442-6627G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760407G>C | CA351065709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6627G>C (n.856-6627G>C) c.868-6627G>C (n.868-6627G>C) c.862-6627G>C (n.862-6627G>C) c.120G>C (p.Trp40Cys) c.61-6627G>C (n.61-6627G>C) c.442-6627G>C (n.442-6627G>C) | |
2 | g.233760407G= | CA1335893876 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6627G= (n.856-6627G=) c.868-6627G= (n.868-6627G=) c.862-6627G= (n.862-6627G=) c.120G= (p.Trp40=) c.61-6627G= (n.61-6627G=) c.442-6627G= (n.442-6627G=) | |
2 | g.233760407G>T | CA351065712 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6627G>T (n.856-6627G>T) c.868-6627G>T (n.868-6627G>T) c.862-6627G>T (n.862-6627G>T) c.120G>T (p.Trp40Cys) c.61-6627G>T (n.61-6627G>T) c.442-6627G>T (n.442-6627G>T) | |
2 | g.233760408C>A | CA351065717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6626C>A (n.856-6626C>A) c.868-6626C>A (n.868-6626C>A) c.862-6626C>A (n.862-6626C>A) c.121C>A (p.Leu41Met) c.61-6626C>A (n.61-6626C>A) c.442-6626C>A (n.442-6626C>A) | dbSNP |
2 | g.233760408C>G | CA351065719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6626C>G (n.856-6626C>G) c.868-6626C>G (n.868-6626C>G) c.862-6626C>G (n.862-6626C>G) c.121C>G (p.Leu41Val) c.61-6626C>G (n.61-6626C>G) c.442-6626C>G (n.442-6626C>G) | |
2 | g.233760408C>T | CA431960075 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6626C>T (n.856-6626C>T) c.868-6626C>T (n.868-6626C>T) c.862-6626C>T (n.862-6626C>T) c.121C>T (p.Leu41=) c.61-6626C>T (n.61-6626C>T) c.442-6626C>T (n.442-6626C>T) | |
2 | g.233760409T>A | CA351065723 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6625T>A (n.856-6625T>A) c.868-6625T>A (n.868-6625T>A) c.862-6625T>A (n.862-6625T>A) c.122T>A (p.Leu41Gln) c.61-6625T>A (n.61-6625T>A) c.442-6625T>A (n.442-6625T>A) | |
2 | g.233760409T>C | CA351065726 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6625T>C (n.856-6625T>C) c.868-6625T>C (n.868-6625T>C) c.862-6625T>C (n.862-6625T>C) c.122T>C (p.Leu41Pro) c.61-6625T>C (n.61-6625T>C) c.442-6625T>C (n.442-6625T>C) | |
2 | g.233760409T>G | CA351065727 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6625T>G (n.856-6625T>G) c.868-6625T>G (n.868-6625T>G) c.862-6625T>G (n.862-6625T>G) c.122T>G (p.Leu41Arg) c.61-6625T>G (n.61-6625T>G) c.442-6625T>G (n.442-6625T>G) | |
2 | g.233760410G>A | CA431960078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G>A (n.856-6624G>A) c.868-6624G>A (n.868-6624G>A) c.862-6624G>A (n.862-6624G>A) c.123G>A (p.Leu41=) c.61-6624G>A (n.61-6624G>A) c.442-6624G>A (n.442-6624G>A) | dbSNP |
2 | g.233760410G>C | CA431960077 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G>C (n.856-6624G>C) c.868-6624G>C (n.868-6624G>C) c.862-6624G>C (n.862-6624G>C) c.123G>C (p.Leu41=) c.61-6624G>C (n.61-6624G>C) c.442-6624G>C (n.442-6624G>C) | dbSNP |
2 | g.233760410G= | CA1335893877 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G= (n.856-6624G=) c.868-6624G= (n.868-6624G=) c.862-6624G= (n.862-6624G=) c.123G= (p.Leu41=) c.61-6624G= (n.61-6624G=) c.442-6624G= (n.442-6624G=) | |
2 | g.233760410G>T | CA431960076 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G>T (n.856-6624G>T) c.868-6624G>T (n.868-6624G>T) c.862-6624G>T (n.862-6624G>T) c.123G>T (p.Leu41=) c.61-6624G>T (n.61-6624G>T) c.442-6624G>T (n.442-6624G>T) | dbSNP |
2 | g.233760411A= | CA1335893878 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A= (n.856-6623A=) c.868-6623A= (n.868-6623A=) c.862-6623A= (n.862-6623A=) c.124A= (p.Ser42=) c.61-6623A= (n.61-6623A=) c.442-6623A= (n.442-6623A=) | |
2 | g.233760411A>C | CA351065729 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A>C (n.856-6623A>C) c.868-6623A>C (n.868-6623A>C) c.862-6623A>C (n.862-6623A>C) c.124A>C (p.Ser42Arg) c.61-6623A>C (n.61-6623A>C) c.442-6623A>C (n.442-6623A>C) | |
2 | g.233760411A>G | CA351065732 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A>G (n.856-6623A>G) c.868-6623A>G (n.868-6623A>G) c.862-6623A>G (n.862-6623A>G) c.124A>G (p.Ser42Gly) c.61-6623A>G (n.61-6623A>G) c.442-6623A>G (n.442-6623A>G) | dbSNP gnomAD v4 |
2 | g.233760411A>T | CA351065735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A>T (n.856-6623A>T) c.868-6623A>T (n.868-6623A>T) c.862-6623A>T (n.862-6623A>T) c.124A>T (p.Ser42Cys) c.61-6623A>T (n.61-6623A>T) c.442-6623A>T (n.442-6623A>T) | dbSNP |
2 | g.233760412G>A | CA2179778 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6622G>A (n.856-6622G>A) c.868-6622G>A (n.868-6622G>A) c.862-6622G>A (n.862-6622G>A) c.125G>A (p.Ser42Asn) c.61-6622G>A (n.61-6622G>A) c.442-6622G>A (n.442-6622G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760412G>C | CA351065739 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6622G>C (n.856-6622G>C) c.868-6622G>C (n.868-6622G>C) c.862-6622G>C (n.862-6622G>C) c.125G>C (p.Ser42Thr) c.61-6622G>C (n.61-6622G>C) c.442-6622G>C (n.442-6622G>C) | dbSNP |
2 | g.233760412G= | CA1335893879 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6622G= (n.856-6622G=) c.868-6622G= (n.868-6622G=) c.862-6622G= (n.862-6622G=) c.125G= (p.Ser42=) c.61-6622G= (n.61-6622G=) c.442-6622G= (n.442-6622G=) | |
2 | g.233760412G>T | CA351065742 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6622G>T (n.856-6622G>T) c.868-6622G>T (n.868-6622G>T) c.862-6622G>T (n.862-6622G>T) c.125G>T (p.Ser42Ile) c.61-6622G>T (n.61-6622G>T) c.442-6622G>T (n.442-6622G>T) | |
2 | g.233760413C>A | CA351065745 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6621C>A (n.856-6621C>A) c.868-6621C>A (n.868-6621C>A) c.862-6621C>A (n.862-6621C>A) c.126C>A (p.Ser42Arg) c.61-6621C>A (n.61-6621C>A) c.442-6621C>A (n.442-6621C>A) | dbSNP |
2 | g.233760413C>G | CA351065748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6621C>G (n.856-6621C>G) c.868-6621C>G (n.868-6621C>G) c.862-6621C>G (n.862-6621C>G) c.126C>G (p.Ser42Arg) c.61-6621C>G (n.61-6621C>G) c.442-6621C>G (n.442-6621C>G) | |
2 | g.233760413C>T | CA431960080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6621C>T (n.856-6621C>T) c.868-6621C>T (n.868-6621C>T) c.862-6621C>T (n.862-6621C>T) c.126C>T (p.Ser42=) c.61-6621C>T (n.61-6621C>T) c.442-6621C>T (n.442-6621C>T) | dbSNP COSMIC COSMIC |
2 | g.233760414A>C | CA351065755 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6620A>C (n.856-6620A>C) c.868-6620A>C (n.868-6620A>C) c.862-6620A>C (n.862-6620A>C) c.127A>C (p.Met43Leu) c.61-6620A>C (n.61-6620A>C) c.442-6620A>C (n.442-6620A>C) | |
2 | g.233760414A>G | CA351065752 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6620A>G (n.856-6620A>G) c.868-6620A>G (n.868-6620A>G) c.862-6620A>G (n.862-6620A>G) c.127A>G (p.Met43Val) c.61-6620A>G (n.61-6620A>G) c.442-6620A>G (n.442-6620A>G) | |
2 | g.233760414A>T | CA351065754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6620A>T (n.856-6620A>T) c.868-6620A>T (n.868-6620A>T) c.862-6620A>T (n.862-6620A>T) c.127A>T (p.Met43Leu) c.61-6620A>T (n.61-6620A>T) c.442-6620A>T (n.442-6620A>T) | dbSNP |
2 | g.233760415del | CA2663717381 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6619del (n.856-6619del) c.868-6619del (n.868-6619del) c.862-6619del (n.862-6619del) c.128del (p.Met43SerfsTer15) c.61-6619del (n.61-6619del) c.442-6619del (n.442-6619del) | gnomAD v4 |
2 | g.233760415T>A | CA351065765 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6619T>A (n.856-6619T>A) c.868-6619T>A (n.868-6619T>A) c.862-6619T>A (n.862-6619T>A) c.128T>A (p.Met43Lys) c.61-6619T>A (n.61-6619T>A) c.442-6619T>A (n.442-6619T>A) | dbSNP gnomAD v4 |
2 | g.233760415T>C | CA351065773 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6619T>C (n.856-6619T>C) c.868-6619T>C (n.868-6619T>C) c.862-6619T>C (n.862-6619T>C) c.128T>C (p.Met43Thr) c.61-6619T>C (n.61-6619T>C) c.442-6619T>C (n.442-6619T>C) | gnomAD v4 |
2 | g.233760415T>G | CA351065775 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6619T>G (n.856-6619T>G) c.868-6619T>G (n.868-6619T>G) c.862-6619T>G (n.862-6619T>G) c.128T>G (p.Met43Arg) c.61-6619T>G (n.61-6619T>G) c.442-6619T>G (n.442-6619T>G) | |
2 | g.233760416G>A | CA351065778 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6618G>A (n.856-6618G>A) c.868-6618G>A (n.868-6618G>A) c.862-6618G>A (n.862-6618G>A) c.129G>A (p.Met43Ile) c.61-6618G>A (n.61-6618G>A) c.442-6618G>A (n.442-6618G>A) | dbSNP gnomAD v4 |
2 | g.233760416G>C | CA351065781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6618G>C (n.856-6618G>C) c.868-6618G>C (n.868-6618G>C) c.862-6618G>C (n.862-6618G>C) c.129G>C (p.Met43Ile) c.61-6618G>C (n.61-6618G>C) c.442-6618G>C (n.442-6618G>C) | dbSNP |
2 | g.233760416G= | CA1335893880 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6618G= (n.856-6618G=) c.868-6618G= (n.868-6618G=) c.862-6618G= (n.862-6618G=) c.129G= (p.Met43=) c.61-6618G= (n.61-6618G=) c.442-6618G= (n.442-6618G=) | |
2 | g.233760416G>T | CA351065783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6618G>T (n.856-6618G>T) c.868-6618G>T (n.868-6618G>T) c.862-6618G>T (n.862-6618G>T) c.129G>T (p.Met43Ile) c.61-6618G>T (n.61-6618G>T) c.442-6618G>T (n.442-6618G>T) | |
2 | g.233760417C>A | CA351065785 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6617C>A (n.856-6617C>A) c.868-6617C>A (n.868-6617C>A) c.862-6617C>A (n.862-6617C>A) c.130C>A (p.Leu44Ile) c.61-6617C>A (n.61-6617C>A) c.442-6617C>A (n.442-6617C>A) | dbSNP |
2 | g.233760417C>G | CA351065787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6617C>G (n.856-6617C>G) c.868-6617C>G (n.868-6617C>G) c.862-6617C>G (n.862-6617C>G) c.130C>G (p.Leu44Val) c.61-6617C>G (n.61-6617C>G) c.442-6617C>G (n.442-6617C>G) | dbSNP |
2 | g.233760417C>T | CA351065791 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6617C>T (n.856-6617C>T) c.868-6617C>T (n.868-6617C>T) c.862-6617C>T (n.862-6617C>T) c.130C>T (p.Leu44Phe) c.61-6617C>T (n.61-6617C>T) c.442-6617C>T (n.442-6617C>T) | dbSNP |
2 | g.233760418_233760425del | CA2663717382 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6616_856-6609del (n.856-6616_856-6609del) c.868-6616_868-6609del (n.868-6616_868-6609del) c.862-6616_862-6609del (n.862-6616_862-6609del) c.131_138del (p.Leu44HisfsTer10) c.61-6616_61-6609del (n.61-6616_61-6609del) c.442-6616_442-6609del (n.442-6616_442-6609del) | gnomAD v4 |
2 | g.233760418T>A | CA351065795 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6616T>A (n.856-6616T>A) c.868-6616T>A (n.868-6616T>A) c.862-6616T>A (n.862-6616T>A) c.131T>A (p.Leu44His) c.61-6616T>A (n.61-6616T>A) c.442-6616T>A (n.442-6616T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760418T>C | CA351065797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6616T>C (n.856-6616T>C) c.868-6616T>C (n.868-6616T>C) c.862-6616T>C (n.862-6616T>C) c.131T>C (p.Leu44Pro) c.61-6616T>C (n.61-6616T>C) c.442-6616T>C (n.442-6616T>C) | |
2 | g.233760418T>G | CA351065798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6616T>G (n.856-6616T>G) c.868-6616T>G (n.868-6616T>G) c.862-6616T>G (n.862-6616T>G) c.131T>G (p.Leu44Arg) c.61-6616T>G (n.61-6616T>G) c.442-6616T>G (n.442-6616T>G) | |
2 | g.233760418T= | CA1335893881 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6616T= (n.856-6616T=) c.868-6616T= (n.868-6616T=) c.862-6616T= (n.862-6616T=) c.131T= (p.Leu44=) c.61-6616T= (n.61-6616T=) c.442-6616T= (n.442-6616T=) | |
2 | g.233760419T>A | CA431960087 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6615T>A (n.856-6615T>A) c.868-6615T>A (n.868-6615T>A) c.862-6615T>A (n.862-6615T>A) c.132T>A (p.Leu44=) c.61-6615T>A (n.61-6615T>A) c.442-6615T>A (n.442-6615T>A) | |
2 | g.233760419T>C | CA431960085 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6615T>C (n.856-6615T>C) c.868-6615T>C (n.868-6615T>C) c.862-6615T>C (n.862-6615T>C) c.132T>C (p.Leu44=) c.61-6615T>C (n.61-6615T>C) c.442-6615T>C (n.442-6615T>C) | |
2 | g.233760419T>G | CA431960086 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6615T>G (n.856-6615T>G) c.868-6615T>G (n.868-6615T>G) c.862-6615T>G (n.862-6615T>G) c.132T>G (p.Leu44=) c.61-6615T>G (n.61-6615T>G) c.442-6615T>G (n.442-6615T>G) | |
2 | g.233760420G>A | CA351065801 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6614G>A (n.856-6614G>A) c.868-6614G>A (n.868-6614G>A) c.862-6614G>A (n.862-6614G>A) c.133G>A (p.Gly45Arg) c.61-6614G>A (n.61-6614G>A) c.442-6614G>A (n.442-6614G>A) | dbSNP |
2 | g.233760420G>C | CA351065807 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6614G>C (n.856-6614G>C) c.868-6614G>C (n.868-6614G>C) c.862-6614G>C (n.862-6614G>C) c.133G>C (p.Gly45Arg) c.61-6614G>C (n.61-6614G>C) c.442-6614G>C (n.442-6614G>C) | dbSNP |
2 | g.233760420G= | CA1335893882 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6614G= (n.856-6614G=) c.868-6614G= (n.868-6614G=) c.862-6614G= (n.862-6614G=) c.133G= (p.Gly45=) c.61-6614G= (n.61-6614G=) c.442-6614G= (n.442-6614G=) | |
2 | g.233760420G>T | CA351065804 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6614G>T (n.856-6614G>T) c.868-6614G>T (n.868-6614G>T) c.862-6614G>T (n.862-6614G>T) c.133G>T (p.Gly45Trp) c.61-6614G>T (n.61-6614G>T) c.442-6614G>T (n.442-6614G>T) | dbSNP |
2 | g.233760421G>A | CA351065808 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6613G>A (n.856-6613G>A) c.868-6613G>A (n.868-6613G>A) c.862-6613G>A (n.862-6613G>A) c.134G>A (p.Gly45Glu) c.61-6613G>A (n.61-6613G>A) c.442-6613G>A (n.442-6613G>A) | dbSNP |
2 | g.233760421G>C | CA351065811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6613G>C (n.856-6613G>C) c.868-6613G>C (n.868-6613G>C) c.862-6613G>C (n.862-6613G>C) c.134G>C (p.Gly45Ala) c.61-6613G>C (n.61-6613G>C) c.442-6613G>C (n.442-6613G>C) | |
2 | g.233760421G>T | CA351065814 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6613G>T (n.856-6613G>T) c.868-6613G>T (n.868-6613G>T) c.862-6613G>T (n.862-6613G>T) c.134G>T (p.Gly45Val) c.61-6613G>T (n.61-6613G>T) c.442-6613G>T (n.442-6613G>T) | dbSNP |
2 | g.233760422G>A | CA431960088 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6612G>A (n.856-6612G>A) c.868-6612G>A (n.868-6612G>A) c.862-6612G>A (n.862-6612G>A) c.135G>A (p.Gly45=) c.61-6612G>A (n.61-6612G>A) c.442-6612G>A (n.442-6612G>A) | dbSNP |
2 | g.233760422G>C | CA431960089 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6612G>C (n.856-6612G>C) c.868-6612G>C (n.868-6612G>C) c.862-6612G>C (n.862-6612G>C) c.135G>C (p.Gly45=) c.61-6612G>C (n.61-6612G>C) c.442-6612G>C (n.442-6612G>C) | |
2 | g.233760422G>T | CA431960090 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6612G>T (n.856-6612G>T) c.868-6612G>T (n.868-6612G>T) c.862-6612G>T (n.862-6612G>T) c.135G>T (p.Gly45=) c.61-6612G>T (n.61-6612G>T) c.442-6612G>T (n.442-6612G>T) | |
2 | g.233760423G>A | CA351065817 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6611G>A (n.856-6611G>A) c.868-6611G>A (n.868-6611G>A) c.862-6611G>A (n.862-6611G>A) c.136G>A (p.Ala46Thr) c.61-6611G>A (n.61-6611G>A) c.442-6611G>A (n.442-6611G>A) | |
2 | g.233760423G>C | CA351065819 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6611G>C (n.856-6611G>C) c.868-6611G>C (n.868-6611G>C) c.862-6611G>C (n.862-6611G>C) c.136G>C (p.Ala46Pro) c.61-6611G>C (n.61-6611G>C) c.442-6611G>C (n.442-6611G>C) | |
2 | g.233760423G>T | CA351065822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6611G>T (n.856-6611G>T) c.868-6611G>T (n.868-6611G>T) c.862-6611G>T (n.862-6611G>T) c.136G>T (p.Ala46Ser) c.61-6611G>T (n.61-6611G>T) c.442-6611G>T (n.442-6611G>T) | |
2 | g.233760424C>A | CA351065825 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6610C>A (n.856-6610C>A) c.868-6610C>A (n.868-6610C>A) c.862-6610C>A (n.862-6610C>A) c.137C>A (p.Ala46Asp) c.61-6610C>A (n.61-6610C>A) c.442-6610C>A (n.442-6610C>A) | dbSNP |
2 | g.233760424C= | CA1335893883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6610C= (n.856-6610C=) c.868-6610C= (n.868-6610C=) c.862-6610C= (n.862-6610C=) c.137C= (p.Ala46=) c.61-6610C= (n.61-6610C=) c.442-6610C= (n.442-6610C=) | |
2 | g.233760424C>G | CA351065828 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6610C>G (n.856-6610C>G) c.868-6610C>G (n.868-6610C>G) c.862-6610C>G (n.862-6610C>G) c.137C>G (p.Ala46Gly) c.61-6610C>G (n.61-6610C>G) c.442-6610C>G (n.442-6610C>G) | dbSNP |
2 | g.233760424C>T | CA10607055 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6610C>T (n.856-6610C>T) c.868-6610C>T (n.868-6610C>T) c.862-6610C>T (n.862-6610C>T) c.137C>T (p.Ala46Val) c.61-6610C>T (n.61-6610C>T) c.442-6610C>T (n.442-6610C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760425C>A | CA431960092 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6609C>A (n.856-6609C>A) c.868-6609C>A (n.868-6609C>A) c.862-6609C>A (n.862-6609C>A) c.138C>A (p.Ala46=) c.61-6609C>A (n.61-6609C>A) c.442-6609C>A (n.442-6609C>A) | |
2 | g.233760425C= | CA1335893884 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6609C= (n.856-6609C=) c.868-6609C= (n.868-6609C=) c.862-6609C= (n.862-6609C=) c.138C= (p.Ala46=) c.61-6609C= (n.61-6609C=) c.442-6609C= (n.442-6609C=) | |
2 | g.233760425C>G | CA431960093 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6609C>G (n.856-6609C>G) c.868-6609C>G (n.868-6609C>G) c.862-6609C>G (n.862-6609C>G) c.138C>G (p.Ala46=) c.61-6609C>G (n.61-6609C>G) c.442-6609C>G (n.442-6609C>G) | |
2 | g.233760425C>T | CA10606531 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6609C>T (n.856-6609C>T) c.868-6609C>T (n.868-6609C>T) c.862-6609C>T (n.862-6609C>T) c.138C>T (p.Ala46=) c.61-6609C>T (n.61-6609C>T) c.442-6609C>T (n.442-6609C>T) | ClinVar dbSNP |
2 | g.233760426A>C | CA351065835 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6608A>C (n.856-6608A>C) c.868-6608A>C (n.868-6608A>C) c.862-6608A>C (n.862-6608A>C) c.139A>C (p.Ile47Leu) c.61-6608A>C (n.61-6608A>C) c.442-6608A>C (n.442-6608A>C) | dbSNP |
2 | g.233760426A>G | CA351065836 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6608A>G (n.856-6608A>G) c.868-6608A>G (n.868-6608A>G) c.862-6608A>G (n.862-6608A>G) c.139A>G (p.Ile47Val) c.61-6608A>G (n.61-6608A>G) c.442-6608A>G (n.442-6608A>G) | |
2 | g.233760426A>T | CA351065838 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6608A>T (n.856-6608A>T) c.868-6608A>T (n.868-6608A>T) c.862-6608A>T (n.862-6608A>T) c.139A>T (p.Ile47Phe) c.61-6608A>T (n.61-6608A>T) c.442-6608A>T (n.442-6608A>T) | dbSNP |
2 | g.233760427T>A | CA351065848 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6607T>A (n.856-6607T>A) c.868-6607T>A (n.868-6607T>A) c.862-6607T>A (n.862-6607T>A) c.140T>A (p.Ile47Asn) c.61-6607T>A (n.61-6607T>A) c.442-6607T>A (n.442-6607T>A) | |
2 | g.233760427T>C | CA351065845 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6607T>C (n.856-6607T>C) c.868-6607T>C (n.868-6607T>C) c.862-6607T>C (n.862-6607T>C) c.140T>C (p.Ile47Thr) c.61-6607T>C (n.61-6607T>C) c.442-6607T>C (n.442-6607T>C) | |
2 | g.233760427T>G | CA351065843 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6607T>G (n.856-6607T>G) c.868-6607T>G (n.868-6607T>G) c.862-6607T>G (n.862-6607T>G) c.140T>G (p.Ile47Ser) c.61-6607T>G (n.61-6607T>G) c.442-6607T>G (n.442-6607T>G) | |
2 | g.233760428C>A | CA173858 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6606C>A (n.856-6606C>A) c.868-6606C>A (n.868-6606C>A) c.862-6606C>A (n.862-6606C>A) c.141C>A (p.Ile47=) c.61-6606C>A (n.61-6606C>A) c.442-6606C>A (n.442-6606C>A) | ClinVar dbSNP |
2 | g.233760428C= | CA1335893885 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6606C= (n.856-6606C=) c.868-6606C= (n.868-6606C=) c.862-6606C= (n.862-6606C=) c.141C= (p.Ile47=) c.61-6606C= (n.61-6606C=) c.442-6606C= (n.442-6606C=) | |
2 | g.233760428C>G | CA351065852 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6606C>G (n.856-6606C>G) c.868-6606C>G (n.868-6606C>G) c.862-6606C>G (n.862-6606C>G) c.141C>G (p.Ile47Met) c.61-6606C>G (n.61-6606C>G) c.442-6606C>G (n.442-6606C>G) | |
2 | g.233760428C>T | CA173861 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6606C>T (n.856-6606C>T) c.868-6606C>T (n.868-6606C>T) c.862-6606C>T (n.862-6606C>T) c.141C>T (p.Ile47=) c.61-6606C>T (n.61-6606C>T) c.442-6606C>T (n.442-6606C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.233760429C>A | CA351065853 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6605C>A (n.856-6605C>A) c.868-6605C>A (n.868-6605C>A) c.862-6605C>A (n.862-6605C>A) c.142C>A (p.Gln48Lys) c.61-6605C>A (n.61-6605C>A) c.442-6605C>A (n.442-6605C>A) | |
2 | g.233760429C= | CA1335893886 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6605C= (n.856-6605C=) c.868-6605C= (n.868-6605C=) c.862-6605C= (n.862-6605C=) c.142C= (p.Gln48=) c.61-6605C= (n.61-6605C=) c.442-6605C= (n.442-6605C=) | |
2 | g.233760429C>G | CA2179779 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6605C>G (n.856-6605C>G) c.868-6605C>G (n.868-6605C>G) c.862-6605C>G (n.862-6605C>G) c.142C>G (p.Gln48Glu) c.61-6605C>G (n.61-6605C>G) c.442-6605C>G (n.442-6605C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760429C>T | CA351065854 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6605C>T (n.856-6605C>T) c.868-6605C>T (n.868-6605C>T) c.862-6605C>T (n.862-6605C>T) c.142C>T (p.Gln48Ter) c.61-6605C>T (n.61-6605C>T) c.442-6605C>T (n.442-6605C>T) | dbSNP |
2 | g.233760430A>C | CA351065855 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6604A>C (n.856-6604A>C) c.868-6604A>C (n.868-6604A>C) c.862-6604A>C (n.862-6604A>C) c.143A>C (p.Gln48Pro) c.61-6604A>C (n.61-6604A>C) c.442-6604A>C (n.442-6604A>C) | |
2 | g.233760430A>G | CA351065856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6604A>G (n.856-6604A>G) c.868-6604A>G (n.868-6604A>G) c.862-6604A>G (n.862-6604A>G) c.143A>G (p.Gln48Arg) c.61-6604A>G (n.61-6604A>G) c.442-6604A>G (n.442-6604A>G) | |
2 | g.233760430A>T | CA351065858 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6604A>T (n.856-6604A>T) c.868-6604A>T (n.868-6604A>T) c.862-6604A>T (n.862-6604A>T) c.143A>T (p.Gln48Leu) c.61-6604A>T (n.61-6604A>T) c.442-6604A>T (n.442-6604A>T) | |
2 | g.233760431G>A | CA431960099 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6603G>A (n.856-6603G>A) c.868-6603G>A (n.868-6603G>A) c.862-6603G>A (n.862-6603G>A) c.144G>A (p.Gln48=) c.61-6603G>A (n.61-6603G>A) c.442-6603G>A (n.442-6603G>A) | dbSNP |
2 | g.233760431G>C | CA351065860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6603G>C (n.856-6603G>C) c.868-6603G>C (n.868-6603G>C) c.862-6603G>C (n.862-6603G>C) c.144G>C (p.Gln48His) c.61-6603G>C (n.61-6603G>C) c.442-6603G>C (n.442-6603G>C) | dbSNP |
2 | g.233760431G>T | CA351065864 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6603G>T (n.856-6603G>T) c.868-6603G>T (n.868-6603G>T) c.862-6603G>T (n.862-6603G>T) c.144G>T (p.Gln48His) c.61-6603G>T (n.61-6603G>T) c.442-6603G>T (n.442-6603G>T) | |
2 | g.233760432C>A | CA351065866 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760432C= | CA1335893887 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760432C>G | CA351065868 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760432C>T | CA122074 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760433A= | CA1335893888 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760433A>C | CA351065876 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760433A>G | CA2179780 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760433A>T | CA351065874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760434G>A | CA431960101 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760434G>C | CA351065879 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760434G>T | CA351065880 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760435C>A | CA351065882 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760435C>G | CA351065883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760435C>T | CA431960102 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760436T>A | CA351065886 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760436T>C | CA351065889 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760436T>G | CA351065891 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760437G>A | CA431960104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760437G>C | CA431960105 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760437G= | CA1335893889 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760437G>T | CA431960106 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760438C>A | CA351065898 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760438C>G | CA351065895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760438C>T | CA351065897 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760439A= | CA1335893890 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760439A>C | CA351065900 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760439A>G | CA351065901 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760439A>T | CA351065905 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760440G>A | CA431960108 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760440G>C | CA351065907 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760440G= | CA1335893891 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760440G>T | CA351065910 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760441C>A | CA351065913 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760441C>G | CA351065919 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760441C>T | CA351065916 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760442A>C | CA351065922 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760442A>G | CA351065924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760442A>T | CA351065927 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760443G>A | CA2179781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760443G>C | CA351065936 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760443G= | CA1335893892 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760443G>T | CA351065938 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760444A>C | CA431960109 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760444A>G | CA351065940 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760444A>T | CA351065942 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760445G>A | CA351065944 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760445G>C | CA351065947 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760445G>T | CA351065949 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760446G>A | CA2179782 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760446G>C | CA351065957 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760446G= | CA1335893893 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760446G>T | CA351065954 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760447G>A | CA351065960 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760447G>C | CA351065962 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760447G>T | CA351065965 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760448G>A | CA351065967 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760448G>C | CA351065969 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760448G= | CA1335893894 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760448G>T | CA2179783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760449del | CA2663717383 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760449A>C | CA431960110 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760449A>G | CA431960111 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760449A>T | CA431960112 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760450C>A | CA351065977 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760450C= | CA1335893895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760450C>G | CA351065972 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760450C>T | CA351065974 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760451A>C | CA351065981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760451A>G | CA351065983 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760451A>T | CA351065985 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760451dup | CA2580066072 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760452T>A | CA351065987 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760452T>C | CA431960113 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760452T>G | CA351065988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760452T= | CA1335893896 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760453G>A | CA351065992 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760453G>C | CA67589694 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760453G= | CA1335893897 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760453G>T | CA351065991 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760454A= | CA1335893898 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760454A>C | CA2179784 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760454A>G | CA351065994 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760454A>T | CA351065996 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760455A>C | CA351065998 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760455A>G | CA431960114 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760455A>T | CA351066000 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233760456A= | CA1335893899 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233760456A>C | CA351066001 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233760456A>G | CA351066003 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6578A>G (n.856-6578A>G) c.868-6578A>G (n.868-6578A>G) c.862-6578A>G (n.862-6578A>G) c.169A>G (p.Ile57Val) c.61-6578A>G (n.61-6578A>G) c.442-6578A>G (n.442-6578A>G) | |
2 | g.233760456A>T | CA351066006 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6578A>T (n.856-6578A>T) c.868-6578A>T (n.868-6578A>T) c.862-6578A>T (n.862-6578A>T) c.169A>T (p.Ile57Leu) c.61-6578A>T (n.61-6578A>T) c.442-6578A>T (n.442-6578A>T) | dbSNP gnomAD v4 |
2 | g.233760457T>A | CA351066008 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6577T>A (n.856-6577T>A) c.868-6577T>A (n.868-6577T>A) c.862-6577T>A (n.862-6577T>A) c.170T>A (p.Ile57Lys) c.61-6577T>A (n.61-6577T>A) c.442-6577T>A (n.442-6577T>A) | dbSNP |
2 | g.233760457T>C | CA351066010 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6577T>C (n.856-6577T>C) c.868-6577T>C (n.868-6577T>C) c.862-6577T>C (n.862-6577T>C) c.170T>C (p.Ile57Thr) c.61-6577T>C (n.61-6577T>C) c.442-6577T>C (n.442-6577T>C) | |
2 | g.233760457T>G | CA351066012 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6577T>G (n.856-6577T>G) c.868-6577T>G (n.868-6577T>G) c.862-6577T>G (n.862-6577T>G) c.170T>G (p.Ile57Arg) c.61-6577T>G (n.61-6577T>G) c.442-6577T>G (n.442-6577T>G) | |
2 | g.233760458A= | CA1335893900 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6576A= (n.856-6576A=) c.868-6576A= (n.868-6576A=) c.862-6576A= (n.862-6576A=) c.171A= (p.Ile57=) c.61-6576A= (n.61-6576A=) c.442-6576A= (n.442-6576A=) | |
2 | g.233760458A>C | CA431960115 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6576A>C (n.856-6576A>C) c.868-6576A>C (n.868-6576A>C) c.862-6576A>C (n.862-6576A>C) c.171A>C (p.Ile57=) c.61-6576A>C (n.61-6576A>C) c.442-6576A>C (n.442-6576A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760458A>G | CA351066013 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6576A>G (n.856-6576A>G) c.868-6576A>G (n.868-6576A>G) c.862-6576A>G (n.862-6576A>G) c.171A>G (p.Ile57Met) c.61-6576A>G (n.61-6576A>G) c.442-6576A>G (n.442-6576A>G) | dbSNP |
2 | g.233760458A>T | CA431960116 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6576A>T (n.856-6576A>T) c.868-6576A>T (n.868-6576A>T) c.862-6576A>T (n.862-6576A>T) c.171A>T (p.Ile57=) c.61-6576A>T (n.61-6576A>T) c.442-6576A>T (n.442-6576A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760459G>A | CA351066016 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6575G>A (n.856-6575G>A) c.868-6575G>A (n.868-6575G>A) c.862-6575G>A (n.862-6575G>A) c.172G>A (p.Val58Ile) c.61-6575G>A (n.61-6575G>A) c.442-6575G>A (n.442-6575G>A) | gnomAD v4 |
2 | g.233760459G>C | CA351066019 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6575G>C (n.856-6575G>C) c.868-6575G>C (n.868-6575G>C) c.862-6575G>C (n.862-6575G>C) c.172G>C (p.Val58Leu) c.61-6575G>C (n.61-6575G>C) c.442-6575G>C (n.442-6575G>C) | dbSNP |
2 | g.233760459G>T | CA351066017 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6575G>T (n.856-6575G>T) c.868-6575G>T (n.868-6575G>T) c.862-6575G>T (n.862-6575G>T) c.172G>T (p.Val58Phe) c.61-6575G>T (n.61-6575G>T) c.442-6575G>T (n.442-6575G>T) | |
2 | g.233760460T>A | CA351066021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6574T>A (n.856-6574T>A) c.868-6574T>A (n.868-6574T>A) c.862-6574T>A (n.862-6574T>A) c.173T>A (p.Val58Asp) c.61-6574T>A (n.61-6574T>A) c.442-6574T>A (n.442-6574T>A) | dbSNP |
2 | g.233760460T>C | CA351066022 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6574T>C (n.856-6574T>C) c.868-6574T>C (n.868-6574T>C) c.862-6574T>C (n.862-6574T>C) c.173T>C (p.Val58Ala) c.61-6574T>C (n.61-6574T>C) c.442-6574T>C (n.442-6574T>C) | dbSNP gnomAD v4 |
2 | g.233760460T>G | CA351066023 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6574T>G (n.856-6574T>G) c.868-6574T>G (n.868-6574T>G) c.862-6574T>G (n.862-6574T>G) c.173T>G (p.Val58Gly) c.61-6574T>G (n.61-6574T>G) c.442-6574T>G (n.442-6574T>G) | |
2 | g.233760461T>A | CA431960118 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6573T>A (n.856-6573T>A) c.868-6573T>A (n.868-6573T>A) c.862-6573T>A (n.862-6573T>A) c.174T>A (p.Val58=) c.61-6573T>A (n.61-6573T>A) c.442-6573T>A (n.442-6573T>A) | gnomAD v4 |
2 | g.233760461T>C | CA431960117 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6573T>C (n.856-6573T>C) c.868-6573T>C (n.868-6573T>C) c.862-6573T>C (n.862-6573T>C) c.174T>C (p.Val58=) c.61-6573T>C (n.61-6573T>C) c.442-6573T>C (n.442-6573T>C) | |
2 | g.233760461T>G | CA431960119 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6573T>G (n.856-6573T>G) c.868-6573T>G (n.868-6573T>G) c.862-6573T>G (n.862-6573T>G) c.174T>G (p.Val58=) c.61-6573T>G (n.61-6573T>G) c.442-6573T>G (n.442-6573T>G) | |
2 | g.233760462G>A | CA351066024 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6572G>A (n.856-6572G>A) c.868-6572G>A (n.868-6572G>A) c.862-6572G>A (n.862-6572G>A) c.175G>A (p.Val59Ile) c.61-6572G>A (n.61-6572G>A) c.442-6572G>A (n.442-6572G>A) | dbSNP |
2 | g.233760462G>C | CA351066025 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6572G>C (n.856-6572G>C) c.868-6572G>C (n.868-6572G>C) c.862-6572G>C (n.862-6572G>C) c.175G>C (p.Val59Leu) c.61-6572G>C (n.61-6572G>C) c.442-6572G>C (n.442-6572G>C) | dbSNP |
2 | g.233760462G= | CA1335893901 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6572G= (n.856-6572G=) c.868-6572G= (n.868-6572G=) c.862-6572G= (n.862-6572G=) c.175G= (p.Val59=) c.61-6572G= (n.61-6572G=) c.442-6572G= (n.442-6572G=) | |
2 | g.233760462G>T | CA351066026 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6572G>T (n.856-6572G>T) c.868-6572G>T (n.868-6572G>T) c.862-6572G>T (n.862-6572G>T) c.175G>T (p.Val59Phe) c.61-6572G>T (n.61-6572G>T) c.442-6572G>T (n.442-6572G>T) | ClinVar dbSNP |
2 | g.233760463T>A | CA351066031 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6571T>A (n.856-6571T>A) c.868-6571T>A (n.868-6571T>A) c.862-6571T>A (n.862-6571T>A) c.176T>A (p.Val59Asp) c.61-6571T>A (n.61-6571T>A) c.442-6571T>A (n.442-6571T>A) | |
2 | g.233760463T>C | CA351066033 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6571T>C (n.856-6571T>C) c.868-6571T>C (n.868-6571T>C) c.862-6571T>C (n.862-6571T>C) c.176T>C (p.Val59Ala) c.61-6571T>C (n.61-6571T>C) c.442-6571T>C (n.442-6571T>C) | gnomAD v4 |
2 | g.233760463T>G | CA351066034 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6571T>G (n.856-6571T>G) c.868-6571T>G (n.868-6571T>G) c.862-6571T>G (n.862-6571T>G) c.176T>G (p.Val59Gly) c.61-6571T>G (n.61-6571T>G) c.442-6571T>G (n.442-6571T>G) | |
2 | g.233760464C>A | CA431960120 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6570C>A (n.856-6570C>A) c.868-6570C>A (n.868-6570C>A) c.862-6570C>A (n.862-6570C>A) c.177C>A (p.Val59=) c.61-6570C>A (n.61-6570C>A) c.442-6570C>A (n.442-6570C>A) | dbSNP |
2 | g.233760464C>G | CA431960122 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6570C>G (n.856-6570C>G) c.868-6570C>G (n.868-6570C>G) c.862-6570C>G (n.862-6570C>G) c.177C>G (p.Val59=) c.61-6570C>G (n.61-6570C>G) c.442-6570C>G (n.442-6570C>G) | dbSNP |
2 | g.233760464C>T | CA431960121 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6570C>T (n.856-6570C>T) c.868-6570C>T (n.868-6570C>T) c.862-6570C>T (n.862-6570C>T) c.177C>T (p.Val59=) c.61-6570C>T (n.61-6570C>T) c.442-6570C>T (n.442-6570C>T) | dbSNP COSMIC COSMIC |
2 | g.233760465C>A | CA351066036 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6569C>A (n.856-6569C>A) c.868-6569C>A (n.868-6569C>A) c.862-6569C>A (n.862-6569C>A) c.178C>A (p.Leu60Ile) c.61-6569C>A (n.61-6569C>A) c.442-6569C>A (n.442-6569C>A) | |
2 | g.233760465C>G | CA351066038 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6569C>G (n.856-6569C>G) c.868-6569C>G (n.868-6569C>G) c.862-6569C>G (n.862-6569C>G) c.178C>G (p.Leu60Val) c.61-6569C>G (n.61-6569C>G) c.442-6569C>G (n.442-6569C>G) | dbSNP |
2 | g.233760465C>T | CA431960123 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6569C>T (n.856-6569C>T) c.868-6569C>T (n.868-6569C>T) c.862-6569C>T (n.862-6569C>T) c.178C>T (p.Leu60=) c.61-6569C>T (n.61-6569C>T) c.442-6569C>T (n.442-6569C>T) | dbSNP |
2 | g.233760466T>A | CA351066043 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6568T>A (n.856-6568T>A) c.868-6568T>A (n.868-6568T>A) c.862-6568T>A (n.862-6568T>A) c.179T>A (p.Leu60Gln) c.61-6568T>A (n.61-6568T>A) c.442-6568T>A (n.442-6568T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760466T>C | CA2179785 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6568T>C (n.856-6568T>C) c.868-6568T>C (n.868-6568T>C) c.862-6568T>C (n.862-6568T>C) c.179T>C (p.Leu60Pro) c.61-6568T>C (n.61-6568T>C) c.442-6568T>C (n.442-6568T>C) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.233760466T>G | CA351066041 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6568T>G (n.856-6568T>G) c.868-6568T>G (n.868-6568T>G) c.862-6568T>G (n.862-6568T>G) c.179T>G (p.Leu60Arg) c.61-6568T>G (n.61-6568T>G) c.442-6568T>G (n.442-6568T>G) | |
2 | g.233760466T= | CA1335893902 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6568T= (n.856-6568T=) c.868-6568T= (n.868-6568T=) c.862-6568T= (n.862-6568T=) c.179T= (p.Leu60=) c.61-6568T= (n.61-6568T=) c.442-6568T= (n.442-6568T=) | |
2 | g.233760467A= | CA1335893903 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6567A= (n.856-6567A=) c.868-6567A= (n.868-6567A=) c.862-6567A= (n.862-6567A=) c.180A= (p.Leu60=) c.61-6567A= (n.61-6567A=) c.442-6567A= (n.442-6567A=) | |
2 | g.233760467A>C | CA431960125 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6567A>C (n.856-6567A>C) c.868-6567A>C (n.868-6567A>C) c.862-6567A>C (n.862-6567A>C) c.180A>C (p.Leu60=) c.61-6567A>C (n.61-6567A>C) c.442-6567A>C (n.442-6567A>C) | |
2 | g.233760467A>G | CA431960124 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6567A>G (n.856-6567A>G) c.868-6567A>G (n.868-6567A>G) c.862-6567A>G (n.862-6567A>G) c.180A>G (p.Leu60=) c.61-6567A>G (n.61-6567A>G) c.442-6567A>G (n.442-6567A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760467A>T | CA431960126 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6567A>T (n.856-6567A>T) c.868-6567A>T (n.868-6567A>T) c.862-6567A>T (n.862-6567A>T) c.180A>T (p.Leu60=) c.61-6567A>T (n.61-6567A>T) c.442-6567A>T (n.442-6567A>T) | dbSNP |
2 | g.233760468G>A | CA351066044 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6566G>A (n.856-6566G>A) c.868-6566G>A (n.868-6566G>A) c.862-6566G>A (n.862-6566G>A) c.181G>A (p.Ala61Thr) c.61-6566G>A (n.61-6566G>A) c.442-6566G>A (n.442-6566G>A) | dbSNP |
2 | g.233760468G>C | CA351066046 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6566G>C (n.856-6566G>C) c.868-6566G>C (n.868-6566G>C) c.862-6566G>C (n.862-6566G>C) c.181G>C (p.Ala61Pro) c.61-6566G>C (n.61-6566G>C) c.442-6566G>C (n.442-6566G>C) | dbSNP |
2 | g.233760468G>T | CA351066048 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6566G>T (n.856-6566G>T) c.868-6566G>T (n.868-6566G>T) c.862-6566G>T (n.862-6566G>T) c.181G>T (p.Ala61Ser) c.61-6566G>T (n.61-6566G>T) c.442-6566G>T (n.442-6566G>T) | |
2 | g.233760469C>A | CA351066050 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6565C>A (n.856-6565C>A) c.868-6565C>A (n.868-6565C>A) c.862-6565C>A (n.862-6565C>A) c.182C>A (p.Ala61Glu) c.61-6565C>A (n.61-6565C>A) c.442-6565C>A (n.442-6565C>A) | dbSNP gnomAD v4 |
2 | g.233760469C= | CA1335893904 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6565C= (n.856-6565C=) c.868-6565C= (n.868-6565C=) c.862-6565C= (n.862-6565C=) c.182C= (p.Ala61=) c.61-6565C= (n.61-6565C=) c.442-6565C= (n.442-6565C=) | |
2 | g.233760469C>G | CA351066052 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6565C>G (n.856-6565C>G) c.868-6565C>G (n.868-6565C>G) c.862-6565C>G (n.862-6565C>G) c.182C>G (p.Ala61Gly) c.61-6565C>G (n.61-6565C>G) c.442-6565C>G (n.442-6565C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760469C>T | CA351066053 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6565C>T (n.856-6565C>T) c.868-6565C>T (n.868-6565C>T) c.862-6565C>T (n.862-6565C>T) c.182C>T (p.Ala61Val) c.61-6565C>T (n.61-6565C>T) c.442-6565C>T (n.442-6565C>T) | dbSNP |
2 | g.233760470A>C | CA431960129 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6564A>C (n.856-6564A>C) c.868-6564A>C (n.868-6564A>C) c.862-6564A>C (n.862-6564A>C) c.183A>C (p.Ala61=) c.61-6564A>C (n.61-6564A>C) c.442-6564A>C (n.442-6564A>C) | dbSNP |
2 | g.233760470A>G | CA431960128 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6564A>G (n.856-6564A>G) c.868-6564A>G (n.868-6564A>G) c.862-6564A>G (n.862-6564A>G) c.183A>G (p.Ala61=) c.61-6564A>G (n.61-6564A>G) c.442-6564A>G (n.442-6564A>G) | dbSNP |
2 | g.233760470A>T | CA431960127 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6564A>T (n.856-6564A>T) c.868-6564A>T (n.868-6564A>T) c.862-6564A>T (n.862-6564A>T) c.183A>T (p.Ala61=) c.61-6564A>T (n.61-6564A>T) c.442-6564A>T (n.442-6564A>T) | dbSNP |
2 | g.233760471C>A | CA351066056 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6563C>A (n.856-6563C>A) c.868-6563C>A (n.868-6563C>A) c.862-6563C>A (n.862-6563C>A) c.184C>A (p.Pro62Thr) c.61-6563C>A (n.61-6563C>A) c.442-6563C>A (n.442-6563C>A) | |
2 | g.233760471C= | CA1335893905 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6563C= (n.856-6563C=) c.868-6563C= (n.868-6563C=) c.862-6563C= (n.862-6563C=) c.184C= (p.Pro62=) c.61-6563C= (n.61-6563C=) c.442-6563C= (n.442-6563C=) | |
2 | g.233760471C>G | CA351066058 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6563C>G (n.856-6563C>G) c.868-6563C>G (n.868-6563C>G) c.862-6563C>G (n.862-6563C>G) c.184C>G (p.Pro62Ala) c.61-6563C>G (n.61-6563C>G) c.442-6563C>G (n.442-6563C>G) | |
2 | g.233760471C>T | CA351066060 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6563C>T (n.856-6563C>T) c.868-6563C>T (n.868-6563C>T) c.862-6563C>T (n.862-6563C>T) c.184C>T (p.Pro62Ser) c.61-6563C>T (n.61-6563C>T) c.442-6563C>T (n.442-6563C>T) | dbSNP gnomAD v4 |
2 | g.233760472C>A | CA351066062 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6562C>A (n.856-6562C>A) c.868-6562C>A (n.868-6562C>A) c.862-6562C>A (n.862-6562C>A) c.185C>A (p.Pro62His) c.61-6562C>A (n.61-6562C>A) c.442-6562C>A (n.442-6562C>A) | |
2 | g.233760472C= | CA1335893906 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6562C= (n.856-6562C=) c.868-6562C= (n.868-6562C=) c.862-6562C= (n.862-6562C=) c.185C= (p.Pro62=) c.61-6562C= (n.61-6562C=) c.442-6562C= (n.442-6562C=) | |
2 | g.233760472C>G | CA351066064 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6562C>G (n.856-6562C>G) c.868-6562C>G (n.868-6562C>G) c.862-6562C>G (n.862-6562C>G) c.185C>G (p.Pro62Arg) c.61-6562C>G (n.61-6562C>G) c.442-6562C>G (n.442-6562C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760472C>T | CA351066066 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6562C>T (n.856-6562C>T) c.868-6562C>T (n.868-6562C>T) c.862-6562C>T (n.862-6562C>T) c.185C>T (p.Pro62Leu) c.61-6562C>T (n.61-6562C>T) c.442-6562C>T (n.442-6562C>T) | dbSNP |
2 | g.233760473T>A | CA431960131 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6561T>A (n.856-6561T>A) c.868-6561T>A (n.868-6561T>A) c.862-6561T>A (n.862-6561T>A) c.186T>A (p.Pro62=) c.61-6561T>A (n.61-6561T>A) c.442-6561T>A (n.442-6561T>A) | dbSNP |
2 | g.233760473T>C | CA431960130 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6561T>C (n.856-6561T>C) c.868-6561T>C (n.868-6561T>C) c.862-6561T>C (n.862-6561T>C) c.186T>C (p.Pro62=) c.61-6561T>C (n.61-6561T>C) c.442-6561T>C (n.442-6561T>C) | dbSNP gnomAD v4 |
2 | g.233760473T>G | CA431960133 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6561T>G (n.856-6561T>G) c.868-6561T>G (n.868-6561T>G) c.862-6561T>G (n.862-6561T>G) c.186T>G (p.Pro62=) c.61-6561T>G (n.61-6561T>G) c.442-6561T>G (n.442-6561T>G) | |
2 | g.233760474G>A | CA351066069 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6560G>A (n.856-6560G>A) c.868-6560G>A (n.868-6560G>A) c.862-6560G>A (n.862-6560G>A) c.187G>A (p.Asp63Asn) c.61-6560G>A (n.61-6560G>A) c.442-6560G>A (n.442-6560G>A) | dbSNP |
2 | g.233760474G>C | CA351066068 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6560G>C (n.856-6560G>C) c.868-6560G>C (n.868-6560G>C) c.862-6560G>C (n.862-6560G>C) c.187G>C (p.Asp63His) c.61-6560G>C (n.61-6560G>C) c.442-6560G>C (n.442-6560G>C) | dbSNP |
2 | g.233760474G>T | CA351066067 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6560G>T (n.856-6560G>T) c.868-6560G>T (n.868-6560G>T) c.862-6560G>T (n.862-6560G>T) c.187G>T (p.Asp63Tyr) c.61-6560G>T (n.61-6560G>T) c.442-6560G>T (n.442-6560G>T) | dbSNP |
2 | g.233760475_233760477dup | CA2663717385 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6559_856-6557dup (n.856-6559_856-6557dup) c.868-6559_868-6557dup (n.868-6559_868-6557dup) c.862-6559_862-6557dup (n.862-6559_862-6557dup) c.188_190dup (p.Asp63_Ala64insAsp) c.61-6559_61-6557dup (n.61-6559_61-6557dup) c.442-6559_442-6557dup (n.442-6559_442-6557dup) | gnomAD v4 |
2 | g.233760475A>C | CA351066071 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6559A>C (n.856-6559A>C) c.868-6559A>C (n.868-6559A>C) c.862-6559A>C (n.862-6559A>C) c.188A>C (p.Asp63Ala) c.61-6559A>C (n.61-6559A>C) c.442-6559A>C (n.442-6559A>C) | dbSNP |
2 | g.233760475A>G | CA351066074 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6559A>G (n.856-6559A>G) c.868-6559A>G (n.868-6559A>G) c.862-6559A>G (n.862-6559A>G) c.188A>G (p.Asp63Gly) c.61-6559A>G (n.61-6559A>G) c.442-6559A>G (n.442-6559A>G) | dbSNP |
2 | g.233760475A>T | CA351066072 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6559A>T (n.856-6559A>T) c.868-6559A>T (n.868-6559A>T) c.862-6559A>T (n.862-6559A>T) c.188A>T (p.Asp63Val) c.61-6559A>T (n.61-6559A>T) c.442-6559A>T (n.442-6559A>T) | dbSNP |
2 | g.233760476C>A | CA351066076 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6558C>A (n.856-6558C>A) c.868-6558C>A (n.868-6558C>A) c.862-6558C>A (n.862-6558C>A) c.189C>A (p.Asp63Glu) c.61-6558C>A (n.61-6558C>A) c.442-6558C>A (n.442-6558C>A) | |
2 | g.233760476C= | CA1335893907 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6558C= (n.856-6558C=) c.868-6558C= (n.868-6558C=) c.862-6558C= (n.862-6558C=) c.189C= (p.Asp63=) c.61-6558C= (n.61-6558C=) c.442-6558C= (n.442-6558C=) | |
2 | g.233760476C>G | CA351066078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6558C>G (n.856-6558C>G) c.868-6558C>G (n.868-6558C>G) c.862-6558C>G (n.862-6558C>G) c.189C>G (p.Asp63Glu) c.61-6558C>G (n.61-6558C>G) c.442-6558C>G (n.442-6558C>G) | dbSNP gnomAD v4 |
2 | g.233760476C>T | CA2179786 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6558C>T (n.856-6558C>T) c.868-6558C>T (n.868-6558C>T) c.862-6558C>T (n.862-6558C>T) c.189C>T (p.Asp63=) c.61-6558C>T (n.61-6558C>T) c.442-6558C>T (n.442-6558C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760477G>A | CA2179787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6557G>A (n.856-6557G>A) c.868-6557G>A (n.868-6557G>A) c.862-6557G>A (n.862-6557G>A) c.190G>A (p.Ala64Thr) c.61-6557G>A (n.61-6557G>A) c.442-6557G>A (n.442-6557G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760477G>C | CA351066080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6557G>C (n.856-6557G>C) c.868-6557G>C (n.868-6557G>C) c.862-6557G>C (n.862-6557G>C) c.190G>C (p.Ala64Pro) c.61-6557G>C (n.61-6557G>C) c.442-6557G>C (n.442-6557G>C) | dbSNP |
2 | g.233760477G= | CA1335893908 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6557G= (n.856-6557G=) c.868-6557G= (n.868-6557G=) c.862-6557G= (n.862-6557G=) c.190G= (p.Ala64=) c.61-6557G= (n.61-6557G=) c.442-6557G= (n.442-6557G=) | |
2 | g.233760477G>T | CA351066082 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6557G>T (n.856-6557G>T) c.868-6557G>T (n.868-6557G>T) c.862-6557G>T (n.862-6557G>T) c.190G>T (p.Ala64Ser) c.61-6557G>T (n.61-6557G>T) c.442-6557G>T (n.442-6557G>T) | dbSNP |
2 | g.233760478C>A | CA351066083 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6556C>A (n.856-6556C>A) c.868-6556C>A (n.868-6556C>A) c.862-6556C>A (n.862-6556C>A) c.191C>A (p.Ala64Asp) c.61-6556C>A (n.61-6556C>A) c.442-6556C>A (n.442-6556C>A) | |
2 | g.233760478C>G | CA351066084 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6556C>G (n.856-6556C>G) c.868-6556C>G (n.868-6556C>G) c.862-6556C>G (n.862-6556C>G) c.191C>G (p.Ala64Gly) c.61-6556C>G (n.61-6556C>G) c.442-6556C>G (n.442-6556C>G) | dbSNP |
2 | g.233760478C>T | CA351066085 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6556C>T (n.856-6556C>T) c.868-6556C>T (n.868-6556C>T) c.862-6556C>T (n.862-6556C>T) c.191C>T (p.Ala64Val) c.61-6556C>T (n.61-6556C>T) c.442-6556C>T (n.442-6556C>T) | dbSNP |
2 | g.233760479C>A | CA431960140 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6555C>A (n.856-6555C>A) c.868-6555C>A (n.868-6555C>A) c.862-6555C>A (n.862-6555C>A) c.192C>A (p.Ala64=) c.61-6555C>A (n.61-6555C>A) c.442-6555C>A (n.442-6555C>A) | |
2 | g.233760479C>G | CA431960139 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6555C>G (n.856-6555C>G) c.868-6555C>G (n.868-6555C>G) c.862-6555C>G (n.862-6555C>G) c.192C>G (p.Ala64=) c.61-6555C>G (n.61-6555C>G) c.442-6555C>G (n.442-6555C>G) | |
2 | g.233760479C>T | CA431960138 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6555C>T (n.856-6555C>T) c.868-6555C>T (n.868-6555C>T) c.862-6555C>T (n.862-6555C>T) c.192C>T (p.Ala64=) c.61-6555C>T (n.61-6555C>T) c.442-6555C>T (n.442-6555C>T) | dbSNP |
2 | g.233760480T>A | CA351066086 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6554T>A (n.856-6554T>A) c.868-6554T>A (n.868-6554T>A) c.862-6554T>A (n.862-6554T>A) c.193T>A (p.Ser65Thr) c.61-6554T>A (n.61-6554T>A) c.442-6554T>A (n.442-6554T>A) | |
2 | g.233760480T>C | CA351066087 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6554T>C (n.856-6554T>C) c.868-6554T>C (n.868-6554T>C) c.862-6554T>C (n.862-6554T>C) c.193T>C (p.Ser65Pro) c.61-6554T>C (n.61-6554T>C) c.442-6554T>C (n.442-6554T>C) | dbSNP |
2 | g.233760480T>G | CA351066088 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6554T>G (n.856-6554T>G) c.868-6554T>G (n.868-6554T>G) c.862-6554T>G (n.862-6554T>G) c.193T>G (p.Ser65Ala) c.61-6554T>G (n.61-6554T>G) c.442-6554T>G (n.442-6554T>G) | |
2 | g.233760481C>A | CA351066092 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6553C>A (n.856-6553C>A) c.868-6553C>A (n.868-6553C>A) c.862-6553C>A (n.862-6553C>A) c.194C>A (p.Ser65Ter) c.61-6553C>A (n.61-6553C>A) c.442-6553C>A (n.442-6553C>A) | COSMIC |
2 | g.233760481C= | CA1335893909 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6553C= (n.856-6553C=) c.868-6553C= (n.868-6553C=) c.862-6553C= (n.862-6553C=) c.194C= (p.Ser65=) c.61-6553C= (n.61-6553C=) c.442-6553C= (n.442-6553C=) | |
2 | g.233760481C>G | CA351066090 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6553C>G (n.856-6553C>G) c.868-6553C>G (n.868-6553C>G) c.862-6553C>G (n.862-6553C>G) c.194C>G (p.Ser65Trp) c.61-6553C>G (n.61-6553C>G) c.442-6553C>G (n.442-6553C>G) | dbSNP |
2 | g.233760481C>T | CA2179788 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6553C>T (n.856-6553C>T) c.868-6553C>T (n.868-6553C>T) c.862-6553C>T (n.862-6553C>T) c.194C>T (p.Ser65Leu) c.61-6553C>T (n.61-6553C>T) c.442-6553C>T (n.442-6553C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.233760482G>A | CA2179789 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6552G>A (n.856-6552G>A) c.868-6552G>A (n.868-6552G>A) c.862-6552G>A (n.862-6552G>A) c.195G>A (p.Ser65=) c.61-6552G>A (n.61-6552G>A) c.442-6552G>A (n.442-6552G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760482G>C | CA431960144 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6552G>C (n.856-6552G>C) c.868-6552G>C (n.868-6552G>C) c.862-6552G>C (n.862-6552G>C) c.195G>C (p.Ser65=) c.61-6552G>C (n.61-6552G>C) c.442-6552G>C (n.442-6552G>C) | dbSNP |
2 | g.233760482G= | CA1335893910 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6552G= (n.856-6552G=) c.868-6552G= (n.868-6552G=) c.862-6552G= (n.862-6552G=) c.195G= (p.Ser65=) c.61-6552G= (n.61-6552G=) c.442-6552G= (n.442-6552G=) | |
2 | g.233760482G>T | CA431960141 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6552G>T (n.856-6552G>T) c.868-6552G>T (n.868-6552G>T) c.862-6552G>T (n.862-6552G>T) c.195G>T (p.Ser65=) c.61-6552G>T (n.61-6552G>T) c.442-6552G>T (n.442-6552G>T) | COSMIC COSMIC |
2 | g.233760483T>A | CA351066095 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6551T>A (n.856-6551T>A) c.868-6551T>A (n.868-6551T>A) c.862-6551T>A (n.862-6551T>A) c.196T>A (p.Leu66Met) c.61-6551T>A (n.61-6551T>A) c.442-6551T>A (n.442-6551T>A) | dbSNP |
2 | g.233760483T>C | CA2179790 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6551T>C (n.856-6551T>C) c.868-6551T>C (n.868-6551T>C) c.862-6551T>C (n.862-6551T>C) c.196T>C (p.Leu66=) c.61-6551T>C (n.61-6551T>C) c.442-6551T>C (n.442-6551T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760483T>G | CA351066097 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6551T>G (n.856-6551T>G) c.868-6551T>G (n.868-6551T>G) c.862-6551T>G (n.862-6551T>G) c.196T>G (p.Leu66Val) c.61-6551T>G (n.61-6551T>G) c.442-6551T>G (n.442-6551T>G) | dbSNP COSMIC |
2 | g.233760483T= | CA1335893911 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6551T= (n.856-6551T=) c.868-6551T= (n.868-6551T=) c.862-6551T= (n.862-6551T=) c.196T= (p.Leu66=) c.61-6551T= (n.61-6551T=) c.442-6551T= (n.442-6551T=) | |
2 | g.233760484T>A | CA351066099 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6550T>A (n.856-6550T>A) c.868-6550T>A (n.868-6550T>A) c.862-6550T>A (n.862-6550T>A) c.197T>A (p.Leu66Ter) c.61-6550T>A (n.61-6550T>A) c.442-6550T>A (n.442-6550T>A) | |
2 | g.233760484T>C | CA351066101 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6550T>C (n.856-6550T>C) c.868-6550T>C (n.868-6550T>C) c.862-6550T>C (n.862-6550T>C) c.197T>C (p.Leu66Ser) c.61-6550T>C (n.61-6550T>C) c.442-6550T>C (n.442-6550T>C) | gnomAD v4 |
2 | g.233760484T>G | CA351066104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6550T>G (n.856-6550T>G) c.868-6550T>G (n.868-6550T>G) c.862-6550T>G (n.862-6550T>G) c.197T>G (p.Leu66Trp) c.61-6550T>G (n.61-6550T>G) c.442-6550T>G (n.442-6550T>G) | |
2 | g.233760485G>A | CA431960145 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6549G>A (n.856-6549G>A) c.868-6549G>A (n.868-6549G>A) c.862-6549G>A (n.862-6549G>A) c.198G>A (p.Leu66=) c.61-6549G>A (n.61-6549G>A) c.442-6549G>A (n.442-6549G>A) | dbSNP |
2 | g.233760485G>C | CA351066106 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6549G>C (n.856-6549G>C) c.868-6549G>C (n.868-6549G>C) c.862-6549G>C (n.862-6549G>C) c.198G>C (p.Leu66Phe) c.61-6549G>C (n.61-6549G>C) c.442-6549G>C (n.442-6549G>C) | dbSNP |
2 | g.233760485G>T | CA351066107 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6549G>T (n.856-6549G>T) c.868-6549G>T (n.868-6549G>T) c.862-6549G>T (n.862-6549G>T) c.198G>T (p.Leu66Phe) c.61-6549G>T (n.61-6549G>T) c.442-6549G>T (n.442-6549G>T) | gnomAD v4 |
2 | g.233760485_233760487del | CA2701884987 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6549_856-6547del (n.856-6549_856-6547del) c.868-6549_868-6547del (n.868-6549_868-6547del) c.862-6549_862-6547del (n.862-6549_862-6547del) c.198_200del (p.Leu66_Tyr67delinsPhe) c.61-6549_61-6547del (n.61-6549_61-6547del) c.442-6549_442-6547del (n.442-6549_442-6547del) | dbSNP |
2 | g.233760485_233760506delinsGTACATCAGAGACGGAGCATTT | CA1335893912 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6549_856-6528delinsGTACATCAGAGACGGAGCATTT (n.856-6549_856-6528delinsGTACATCAGAGACGGAGCATTT) c.868-6549_868-6528delinsGTACATCAGAGACGGAGCATTT (n.868-6549_868-6528delinsGTACATCAGAGACGGAGCATTT) c.862-6549_862-6528delinsGTACATCAGAGACGGAGCATTT (n.862-6549_862-6528delinsGTACATCAGAGACGGAGCATTT) c.198_219delinsGTACATCAGAGACGGAGCATTT (p.Leu66=) c.61-6549_61-6528delinsGTACATCAGAGACGGAGCATTT (n.61-6549_61-6528delinsGTACATCAGAGACGGAGCATTT) c.442-6549_442-6528delinsGTACATCAGAGACGGAGCATTT (n.442-6549_442-6528delinsGTACATCAGAGACGGAGCATTT) | |
2 | g.233760486T>A | CA351066109 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6548T>A (n.856-6548T>A) c.868-6548T>A (n.868-6548T>A) c.862-6548T>A (n.862-6548T>A) c.199T>A (p.Tyr67Asn) c.61-6548T>A (n.61-6548T>A) c.442-6548T>A (n.442-6548T>A) | dbSNP |
2 | g.233760486T>C | CA351066111 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6548T>C (n.856-6548T>C) c.868-6548T>C (n.868-6548T>C) c.862-6548T>C (n.862-6548T>C) c.199T>C (p.Tyr67His) c.61-6548T>C (n.61-6548T>C) c.442-6548T>C (n.442-6548T>C) | dbSNP COSMIC COSMIC |
2 | g.233760486T>G | CA351066112 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6548T>G (n.856-6548T>G) c.868-6548T>G (n.868-6548T>G) c.862-6548T>G (n.862-6548T>G) c.199T>G (p.Tyr67Asp) c.61-6548T>G (n.61-6548T>G) c.442-6548T>G (n.442-6548T>G) | dbSNP |
2 | g.233760490_233760510del | CA1335893913 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6544_856-6524del (n.856-6544_856-6524del) c.868-6544_868-6524del (n.868-6544_868-6524del) c.862-6544_862-6524del (n.862-6544_862-6524del) c.203_223del (p.Ile68_Tyr74del) c.61-6544_61-6524del (n.61-6544_61-6524del) c.442-6544_442-6524del (n.442-6544_442-6524del) | dbSNP |
2 | g.233760487A>C | CA351066117 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6547A>C (n.856-6547A>C) c.868-6547A>C (n.868-6547A>C) c.862-6547A>C (n.862-6547A>C) c.200A>C (p.Tyr67Ser) c.61-6547A>C (n.61-6547A>C) c.442-6547A>C (n.442-6547A>C) | dbSNP |
2 | g.233760487A>G | CA351066115 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6547A>G (n.856-6547A>G) c.868-6547A>G (n.868-6547A>G) c.862-6547A>G (n.862-6547A>G) c.200A>G (p.Tyr67Cys) c.61-6547A>G (n.61-6547A>G) c.442-6547A>G (n.442-6547A>G) | dbSNP gnomAD v4 |
2 | g.233760487A>T | CA351066113 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6547A>T (n.856-6547A>T) c.868-6547A>T (n.868-6547A>T) c.862-6547A>T (n.862-6547A>T) c.200A>T (p.Tyr67Phe) c.61-6547A>T (n.61-6547A>T) c.442-6547A>T (n.442-6547A>T) | ClinVar dbSNP |
2 | g.233760488C>A | CA351066121 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6546C>A (n.856-6546C>A) c.868-6546C>A (n.868-6546C>A) c.862-6546C>A (n.862-6546C>A) c.201C>A (p.Tyr67Ter) c.61-6546C>A (n.61-6546C>A) c.442-6546C>A (n.442-6546C>A) | dbSNP |
2 | g.233760488C>G | CA351066119 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6546C>G (n.856-6546C>G) c.868-6546C>G (n.868-6546C>G) c.862-6546C>G (n.862-6546C>G) c.201C>G (p.Tyr67Ter) c.61-6546C>G (n.61-6546C>G) c.442-6546C>G (n.442-6546C>G) | dbSNP |
2 | g.233760488C>T | CA431960147 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6546C>T (n.856-6546C>T) c.868-6546C>T (n.868-6546C>T) c.862-6546C>T (n.862-6546C>T) c.201C>T (p.Tyr67=) c.61-6546C>T (n.61-6546C>T) c.442-6546C>T (n.442-6546C>T) | dbSNP gnomAD v4 |
2 | g.233760489A= | CA1335893914 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6545A= (n.856-6545A=) c.868-6545A= (n.868-6545A=) c.862-6545A= (n.862-6545A=) c.202A= (p.Ile68=) c.61-6545A= (n.61-6545A=) c.442-6545A= (n.442-6545A=) | |
2 | g.233760489A>C | CA351066122 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6545A>C (n.856-6545A>C) c.868-6545A>C (n.868-6545A>C) c.862-6545A>C (n.862-6545A>C) c.202A>C (p.Ile68Leu) c.61-6545A>C (n.61-6545A>C) c.442-6545A>C (n.442-6545A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760489A>G | CA2179791 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6545A>G (n.856-6545A>G) c.868-6545A>G (n.868-6545A>G) c.862-6545A>G (n.862-6545A>G) c.202A>G (p.Ile68Val) c.61-6545A>G (n.61-6545A>G) c.442-6545A>G (n.442-6545A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760489A>T | CA351066124 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6545A>T (n.856-6545A>T) c.868-6545A>T (n.868-6545A>T) c.862-6545A>T (n.862-6545A>T) c.202A>T (p.Ile68Phe) c.61-6545A>T (n.61-6545A>T) c.442-6545A>T (n.442-6545A>T) | dbSNP |
2 | g.233760490T>A | CA351066127 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6544T>A (n.856-6544T>A) c.868-6544T>A (n.868-6544T>A) c.862-6544T>A (n.862-6544T>A) c.203T>A (p.Ile68Asn) c.61-6544T>A (n.61-6544T>A) c.442-6544T>A (n.442-6544T>A) | |
2 | g.233760490T>C | CA351066130 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6544T>C (n.856-6544T>C) c.868-6544T>C (n.868-6544T>C) c.862-6544T>C (n.862-6544T>C) c.203T>C (p.Ile68Thr) c.61-6544T>C (n.61-6544T>C) c.442-6544T>C (n.442-6544T>C) | |
2 | g.233760490T>G | CA351066132 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6544T>G (n.856-6544T>G) c.868-6544T>G (n.868-6544T>G) c.862-6544T>G (n.862-6544T>G) c.203T>G (p.Ile68Ser) c.61-6544T>G (n.61-6544T>G) c.442-6544T>G (n.442-6544T>G) | |
2 | g.233760491C>A | CA431960148 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6543C>A (n.856-6543C>A) c.868-6543C>A (n.868-6543C>A) c.862-6543C>A (n.862-6543C>A) c.204C>A (p.Ile68=) c.61-6543C>A (n.61-6543C>A) c.442-6543C>A (n.442-6543C>A) | |
2 | g.233760491C>G | CA351066134 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6543C>G (n.856-6543C>G) c.868-6543C>G (n.868-6543C>G) c.862-6543C>G (n.862-6543C>G) c.204C>G (p.Ile68Met) c.61-6543C>G (n.61-6543C>G) c.442-6543C>G (n.442-6543C>G) | dbSNP |
2 | g.233760491C>T | CA431960149 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6543C>T (n.856-6543C>T) c.868-6543C>T (n.868-6543C>T) c.862-6543C>T (n.862-6543C>T) c.204C>T (p.Ile68=) c.61-6543C>T (n.61-6543C>T) c.442-6543C>T (n.442-6543C>T) | dbSNP |