Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760601T>A | CA351066403 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6433T>A (n.856-6433T>A) c.868-6433T>A (n.868-6433T>A) c.862-6433T>A (n.862-6433T>A) c.314T>A (p.Phe105Tyr) c.61-6433T>A (n.61-6433T>A) c.442-6433T>A (n.442-6433T>A) | |
2 | g.233760601T>C | CA351066405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6433T>C (n.856-6433T>C) c.868-6433T>C (n.868-6433T>C) c.862-6433T>C (n.862-6433T>C) c.314T>C (p.Phe105Ser) c.61-6433T>C (n.61-6433T>C) c.442-6433T>C (n.442-6433T>C) | |
2 | g.233760601T>G | CA351066404 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6433T>G (n.856-6433T>G) c.868-6433T>G (n.868-6433T>G) c.862-6433T>G (n.862-6433T>G) c.314T>G (p.Phe105Cys) c.61-6433T>G (n.61-6433T>G) c.442-6433T>G (n.442-6433T>G) | |
2 | g.233760602C>A | CA351066406 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6432C>A (n.856-6432C>A) c.868-6432C>A (n.868-6432C>A) c.862-6432C>A (n.862-6432C>A) c.315C>A (p.Phe105Leu) c.61-6432C>A (n.61-6432C>A) c.442-6432C>A (n.442-6432C>A) | dbSNP |
2 | g.233760602C>G | CA351066407 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6432C>G (n.856-6432C>G) c.868-6432C>G (n.868-6432C>G) c.862-6432C>G (n.862-6432C>G) c.315C>G (p.Phe105Leu) c.61-6432C>G (n.61-6432C>G) c.442-6432C>G (n.442-6432C>G) | dbSNP |
2 | g.233760602C>T | CA431960299 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6432C>T (n.856-6432C>T) c.868-6432C>T (n.868-6432C>T) c.862-6432C>T (n.862-6432C>T) c.315C>T (p.Phe105=) c.61-6432C>T (n.61-6432C>T) c.442-6432C>T (n.442-6432C>T) | |
2 | g.233760603C>A | CA351066408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6431C>A (n.856-6431C>A) c.868-6431C>A (n.868-6431C>A) c.862-6431C>A (n.862-6431C>A) c.316C>A (p.Leu106Met) c.61-6431C>A (n.61-6431C>A) c.442-6431C>A (n.442-6431C>A) | |
2 | g.233760603C>G | CA351066409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6431C>G (n.856-6431C>G) c.868-6431C>G (n.868-6431C>G) c.862-6431C>G (n.862-6431C>G) c.316C>G (p.Leu106Val) c.61-6431C>G (n.61-6431C>G) c.442-6431C>G (n.442-6431C>G) | |
2 | g.233760603C>T | CA431960302 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6431C>T (n.856-6431C>T) c.868-6431C>T (n.868-6431C>T) c.862-6431C>T (n.862-6431C>T) c.316C>T (p.Leu106=) c.61-6431C>T (n.61-6431C>T) c.442-6431C>T (n.442-6431C>T) | gnomAD v4 |
2 | g.233760604T>A | CA351066410 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6430T>A (n.856-6430T>A) c.868-6430T>A (n.868-6430T>A) c.862-6430T>A (n.862-6430T>A) c.317T>A (p.Leu106Gln) c.61-6430T>A (n.61-6430T>A) c.442-6430T>A (n.442-6430T>A) | dbSNP |
2 | g.233760604T>C | CA351066411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6430T>C (n.856-6430T>C) c.868-6430T>C (n.868-6430T>C) c.862-6430T>C (n.862-6430T>C) c.317T>C (p.Leu106Pro) c.61-6430T>C (n.61-6430T>C) c.442-6430T>C (n.442-6430T>C) | |
2 | g.233760604T>G | CA351066412 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6430T>G (n.856-6430T>G) c.868-6430T>G (n.868-6430T>G) c.862-6430T>G (n.862-6430T>G) c.317T>G (p.Leu106Arg) c.61-6430T>G (n.61-6430T>G) c.442-6430T>G (n.442-6430T>G) | |
2 | g.233760605G>A | CA431960304 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6429G>A (n.856-6429G>A) c.868-6429G>A (n.868-6429G>A) c.862-6429G>A (n.862-6429G>A) c.318G>A (p.Leu106=) c.61-6429G>A (n.61-6429G>A) c.442-6429G>A (n.442-6429G>A) | dbSNP |
2 | g.233760605G>C | CA431960305 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6429G>C (n.856-6429G>C) c.868-6429G>C (n.868-6429G>C) c.862-6429G>C (n.862-6429G>C) c.318G>C (p.Leu106=) c.61-6429G>C (n.61-6429G>C) c.442-6429G>C (n.442-6429G>C) | |
2 | g.233760605G>T | CA431960306 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6429G>T (n.856-6429G>T) c.868-6429G>T (n.868-6429G>T) c.862-6429G>T (n.862-6429G>T) c.318G>T (p.Leu106=) c.61-6429G>T (n.61-6429G>T) c.442-6429G>T (n.442-6429G>T) | |
2 | g.233760606C>A | CA351066413 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6428C>A (n.856-6428C>A) c.868-6428C>A (n.868-6428C>A) c.862-6428C>A (n.862-6428C>A) c.319C>A (p.Gln107Lys) c.61-6428C>A (n.61-6428C>A) c.442-6428C>A (n.442-6428C>A) | dbSNP |
2 | g.233760606C>G | CA351066414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6428C>G (n.856-6428C>G) c.868-6428C>G (n.868-6428C>G) c.862-6428C>G (n.862-6428C>G) c.319C>G (p.Gln107Glu) c.61-6428C>G (n.61-6428C>G) c.442-6428C>G (n.442-6428C>G) | dbSNP |
2 | g.233760606C>T | CA351066415 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6428C>T (n.856-6428C>T) c.868-6428C>T (n.868-6428C>T) c.862-6428C>T (n.862-6428C>T) c.319C>T (p.Gln107Ter) c.61-6428C>T (n.61-6428C>T) c.442-6428C>T (n.442-6428C>T) | dbSNP |
2 | g.233760607A>C | CA351066416 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6427A>C (n.856-6427A>C) c.868-6427A>C (n.868-6427A>C) c.862-6427A>C (n.862-6427A>C) c.320A>C (p.Gln107Pro) c.61-6427A>C (n.61-6427A>C) c.442-6427A>C (n.442-6427A>C) | |
2 | g.233760607A>G | CA351066418 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6427A>G (n.856-6427A>G) c.868-6427A>G (n.868-6427A>G) c.862-6427A>G (n.862-6427A>G) c.320A>G (p.Gln107Arg) c.61-6427A>G (n.61-6427A>G) c.442-6427A>G (n.442-6427A>G) | |
2 | g.233760607A>T | CA351066417 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6427A>T (n.856-6427A>T) c.868-6427A>T (n.868-6427A>T) c.862-6427A>T (n.862-6427A>T) c.320A>T (p.Gln107Leu) c.61-6427A>T (n.61-6427A>T) c.442-6427A>T (n.442-6427A>T) | |
2 | g.233760608G>A | CA431960308 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6426G>A (n.856-6426G>A) c.868-6426G>A (n.868-6426G>A) c.862-6426G>A (n.862-6426G>A) c.321G>A (p.Gln107=) c.61-6426G>A (n.61-6426G>A) c.442-6426G>A (n.442-6426G>A) | dbSNP |
2 | g.233760608G>C | CA351066419 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6426G>C (n.856-6426G>C) c.868-6426G>C (n.868-6426G>C) c.862-6426G>C (n.862-6426G>C) c.321G>C (p.Gln107His) c.61-6426G>C (n.61-6426G>C) c.442-6426G>C (n.442-6426G>C) | |
2 | g.233760608G>T | CA351066420 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6426G>T (n.856-6426G>T) c.868-6426G>T (n.868-6426G>T) c.862-6426G>T (n.862-6426G>T) c.321G>T (p.Gln107His) c.61-6426G>T (n.61-6426G>T) c.442-6426G>T (n.442-6426G>T) | |
2 | g.233760609C>A | CA351066421 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6425C>A (n.856-6425C>A) c.868-6425C>A (n.868-6425C>A) c.862-6425C>A (n.862-6425C>A) c.322C>A (p.Arg108Ser) c.61-6425C>A (n.61-6425C>A) c.442-6425C>A (n.442-6425C>A) | |
2 | g.233760609C= | CA1335889251 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6425C= (n.856-6425C=) c.868-6425C= (n.868-6425C=) c.862-6425C= (n.862-6425C=) c.322C= (p.Arg108=) c.61-6425C= (n.61-6425C=) c.442-6425C= (n.442-6425C=) | |
2 | g.233760609C>G | CA351066422 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6425C>G (n.856-6425C>G) c.868-6425C>G (n.868-6425C>G) c.862-6425C>G (n.862-6425C>G) c.322C>G (p.Arg108Gly) c.61-6425C>G (n.61-6425C>G) c.442-6425C>G (n.442-6425C>G) | |
2 | g.233760609C>T | CA173874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6425C>T (n.856-6425C>T) c.868-6425C>T (n.868-6425C>T) c.862-6425C>T (n.862-6425C>T) c.322C>T (p.Arg108Cys) c.61-6425C>T (n.61-6425C>T) c.442-6425C>T (n.442-6425C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760610G>A | CA351066425 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6424G>A (n.856-6424G>A) c.868-6424G>A (n.868-6424G>A) c.862-6424G>A (n.862-6424G>A) c.323G>A (p.Arg108His) c.61-6424G>A (n.61-6424G>A) c.442-6424G>A (n.442-6424G>A) | gnomAD v4 COSMIC |
2 | g.233760610G>C | CA351066424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6424G>C (n.856-6424G>C) c.868-6424G>C (n.868-6424G>C) c.862-6424G>C (n.862-6424G>C) c.323G>C (p.Arg108Pro) c.61-6424G>C (n.61-6424G>C) c.442-6424G>C (n.442-6424G>C) | gnomAD v4 |
2 | g.233760610G= | CA1335889254 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6424G= (n.856-6424G=) c.868-6424G= (n.868-6424G=) c.862-6424G= (n.862-6424G=) c.323G= (p.Arg108=) c.61-6424G= (n.61-6424G=) c.442-6424G= (n.442-6424G=) | |
2 | g.233760610G>T | CA351066423 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6424G>T (n.856-6424G>T) c.868-6424G>T (n.868-6424G>T) c.862-6424G>T (n.862-6424G>T) c.323G>T (p.Arg108Leu) c.61-6424G>T (n.61-6424G>T) c.442-6424G>T (n.442-6424G>T) | dbSNP gnomAD v4 |
2 | g.233760611T>A | CA431960313 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6423T>A (n.856-6423T>A) c.868-6423T>A (n.868-6423T>A) c.862-6423T>A (n.862-6423T>A) c.324T>A (p.Arg108=) c.61-6423T>A (n.61-6423T>A) c.442-6423T>A (n.442-6423T>A) | |
2 | g.233760611T>C | CA431960314 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6423T>C (n.856-6423T>C) c.868-6423T>C (n.868-6423T>C) c.862-6423T>C (n.862-6423T>C) c.324T>C (p.Arg108=) c.61-6423T>C (n.61-6423T>C) c.442-6423T>C (n.442-6423T>C) | |
2 | g.233760611T>G | CA431960312 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6423T>G (n.856-6423T>G) c.868-6423T>G (n.868-6423T>G) c.862-6423T>G (n.862-6423T>G) c.324T>G (p.Arg108=) c.61-6423T>G (n.61-6423T>G) c.442-6423T>G (n.442-6423T>G) | |
2 | g.233760612G>A | CA351066426 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6422G>A (n.856-6422G>A) c.868-6422G>A (n.868-6422G>A) c.862-6422G>A (n.862-6422G>A) c.325G>A (p.Val109Met) c.61-6422G>A (n.61-6422G>A) c.442-6422G>A (n.442-6422G>A) | COSMIC COSMIC |
2 | g.233760612G>C | CA351066427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6422G>C (n.856-6422G>C) c.868-6422G>C (n.868-6422G>C) c.862-6422G>C (n.862-6422G>C) c.325G>C (p.Val109Leu) c.61-6422G>C (n.61-6422G>C) c.442-6422G>C (n.442-6422G>C) | gnomAD v4 |
2 | g.233760612G>T | CA351066428 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6422G>T (n.856-6422G>T) c.868-6422G>T (n.868-6422G>T) c.862-6422G>T (n.862-6422G>T) c.325G>T (p.Val109Leu) c.61-6422G>T (n.61-6422G>T) c.442-6422G>T (n.442-6422G>T) | |
2 | g.233760613T>A | CA351066429 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6421T>A (n.856-6421T>A) c.868-6421T>A (n.868-6421T>A) c.862-6421T>A (n.862-6421T>A) c.326T>A (p.Val109Glu) c.61-6421T>A (n.61-6421T>A) c.442-6421T>A (n.442-6421T>A) | |
2 | g.233760613T>C | CA2179806 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6421T>C (n.856-6421T>C) c.868-6421T>C (n.868-6421T>C) c.862-6421T>C (n.862-6421T>C) c.326T>C (p.Val109Ala) c.61-6421T>C (n.61-6421T>C) c.442-6421T>C (n.442-6421T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760613T>G | CA351066430 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6421T>G (n.856-6421T>G) c.868-6421T>G (n.868-6421T>G) c.862-6421T>G (n.862-6421T>G) c.326T>G (p.Val109Gly) c.61-6421T>G (n.61-6421T>G) c.442-6421T>G (n.442-6421T>G) | |
2 | g.233760613T= | CA1335889257 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6421T= (n.856-6421T=) c.868-6421T= (n.868-6421T=) c.862-6421T= (n.862-6421T=) c.326T= (p.Val109=) c.61-6421T= (n.61-6421T=) c.442-6421T= (n.442-6421T=) | |
2 | g.233760614G>A | CA431960316 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6420G>A (n.856-6420G>A) c.868-6420G>A (n.868-6420G>A) c.862-6420G>A (n.862-6420G>A) c.327G>A (p.Val109=) c.61-6420G>A (n.61-6420G>A) c.442-6420G>A (n.442-6420G>A) | |
2 | g.233760614G>C | CA431960317 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6420G>C (n.856-6420G>C) c.868-6420G>C (n.868-6420G>C) c.862-6420G>C (n.862-6420G>C) c.327G>C (p.Val109=) c.61-6420G>C (n.61-6420G>C) c.442-6420G>C (n.442-6420G>C) | |
2 | g.233760614G>T | CA431960315 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6420G>T (n.856-6420G>T) c.868-6420G>T (n.868-6420G>T) c.862-6420G>T (n.862-6420G>T) c.327G>T (p.Val109=) c.61-6420G>T (n.61-6420G>T) c.442-6420G>T (n.442-6420G>T) | |
2 | g.233760615A>C | CA351066433 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6419A>C (n.856-6419A>C) c.868-6419A>C (n.868-6419A>C) c.862-6419A>C (n.862-6419A>C) c.328A>C (p.Ile110Leu) c.61-6419A>C (n.61-6419A>C) c.442-6419A>C (n.442-6419A>C) | |
2 | g.233760615A>G | CA351066431 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6419A>G (n.856-6419A>G) c.868-6419A>G (n.868-6419A>G) c.862-6419A>G (n.862-6419A>G) c.328A>G (p.Ile110Val) c.61-6419A>G (n.61-6419A>G) c.442-6419A>G (n.442-6419A>G) | |
2 | g.233760615A>T | CA351066432 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6419A>T (n.856-6419A>T) c.868-6419A>T (n.868-6419A>T) c.862-6419A>T (n.862-6419A>T) c.328A>T (p.Ile110Phe) c.61-6419A>T (n.61-6419A>T) c.442-6419A>T (n.442-6419A>T) | |
2 | g.233760616T>A | CA351066434 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6418T>A (n.856-6418T>A) c.868-6418T>A (n.868-6418T>A) c.862-6418T>A (n.862-6418T>A) c.329T>A (p.Ile110Asn) c.61-6418T>A (n.61-6418T>A) c.442-6418T>A (n.442-6418T>A) | |
2 | g.233760616T>C | CA351066435 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6418T>C (n.856-6418T>C) c.868-6418T>C (n.868-6418T>C) c.862-6418T>C (n.862-6418T>C) c.329T>C (p.Ile110Thr) c.61-6418T>C (n.61-6418T>C) c.442-6418T>C (n.442-6418T>C) | |
2 | g.233760616T>G | CA351066436 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6418T>G (n.856-6418T>G) c.868-6418T>G (n.868-6418T>G) c.862-6418T>G (n.862-6418T>G) c.329T>G (p.Ile110Ser) c.61-6418T>G (n.61-6418T>G) c.442-6418T>G (n.442-6418T>G) | |
2 | g.233760617C>A | CA431960322 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6417C>A (n.856-6417C>A) c.868-6417C>A (n.868-6417C>A) c.862-6417C>A (n.862-6417C>A) c.330C>A (p.Ile110=) c.61-6417C>A (n.61-6417C>A) c.442-6417C>A (n.442-6417C>A) | |
2 | g.233760617C>G | CA351066437 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6417C>G (n.856-6417C>G) c.868-6417C>G (n.868-6417C>G) c.862-6417C>G (n.862-6417C>G) c.330C>G (p.Ile110Met) c.61-6417C>G (n.61-6417C>G) c.442-6417C>G (n.442-6417C>G) | |
2 | g.233760617C>T | CA431960323 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6417C>T (n.856-6417C>T) c.868-6417C>T (n.868-6417C>T) c.862-6417C>T (n.862-6417C>T) c.330C>T (p.Ile110=) c.61-6417C>T (n.61-6417C>T) c.442-6417C>T (n.442-6417C>T) | COSMIC COSMIC |
2 | g.233760618A= | CA1335889259 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6416A= (n.856-6416A=) c.868-6416A= (n.868-6416A=) c.862-6416A= (n.862-6416A=) c.331A= (p.Lys111=) c.61-6416A= (n.61-6416A=) c.442-6416A= (n.442-6416A=) | |
2 | g.233760618A>C | CA67589794 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6416A>C (n.856-6416A>C) c.868-6416A>C (n.868-6416A>C) c.862-6416A>C (n.862-6416A>C) c.331A>C (p.Lys111Gln) c.61-6416A>C (n.61-6416A>C) c.442-6416A>C (n.442-6416A>C) | dbSNP gnomAD v4 |
2 | g.233760618A>G | CA351066438 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6416A>G (n.856-6416A>G) c.868-6416A>G (n.868-6416A>G) c.862-6416A>G (n.862-6416A>G) c.331A>G (p.Lys111Glu) c.61-6416A>G (n.61-6416A>G) c.442-6416A>G (n.442-6416A>G) | |
2 | g.233760618A>T | CA351066439 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6416A>T (n.856-6416A>T) c.868-6416A>T (n.868-6416A>T) c.862-6416A>T (n.862-6416A>T) c.331A>T (p.Lys111Ter) c.61-6416A>T (n.61-6416A>T) c.442-6416A>T (n.442-6416A>T) | |
2 | g.233760619A>C | CA351066440 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6415A>C (n.856-6415A>C) c.868-6415A>C (n.868-6415A>C) c.862-6415A>C (n.862-6415A>C) c.332A>C (p.Lys111Thr) c.61-6415A>C (n.61-6415A>C) c.442-6415A>C (n.442-6415A>C) | |
2 | g.233760619A>G | CA351066441 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6415A>G (n.856-6415A>G) c.868-6415A>G (n.868-6415A>G) c.862-6415A>G (n.862-6415A>G) c.332A>G (p.Lys111Arg) c.61-6415A>G (n.61-6415A>G) c.442-6415A>G (n.442-6415A>G) | gnomAD v4 |
2 | g.233760619A>T | CA351066442 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6415A>T (n.856-6415A>T) c.868-6415A>T (n.868-6415A>T) c.862-6415A>T (n.862-6415A>T) c.332A>T (p.Lys111Ile) c.61-6415A>T (n.61-6415A>T) c.442-6415A>T (n.442-6415A>T) | |
2 | g.233760620A>C | CA351066443 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6414A>C (n.856-6414A>C) c.868-6414A>C (n.868-6414A>C) c.862-6414A>C (n.862-6414A>C) c.333A>C (p.Lys111Asn) c.61-6414A>C (n.61-6414A>C) c.442-6414A>C (n.442-6414A>C) | |
2 | g.233760620A>G | CA431960328 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6414A>G (n.856-6414A>G) c.868-6414A>G (n.868-6414A>G) c.862-6414A>G (n.862-6414A>G) c.333A>G (p.Lys111=) c.61-6414A>G (n.61-6414A>G) c.442-6414A>G (n.442-6414A>G) | |
2 | g.233760620A>T | CA351066444 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6414A>T (n.856-6414A>T) c.868-6414A>T (n.868-6414A>T) c.862-6414A>T (n.862-6414A>T) c.333A>T (p.Lys111Asn) c.61-6414A>T (n.61-6414A>T) c.442-6414A>T (n.442-6414A>T) | |
2 | g.233760621A>C | CA351066445 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6413A>C (n.856-6413A>C) c.868-6413A>C (n.868-6413A>C) c.862-6413A>C (n.862-6413A>C) c.334A>C (p.Thr112Pro) c.61-6413A>C (n.61-6413A>C) c.442-6413A>C (n.442-6413A>C) | |
2 | g.233760621A>G | CA351066447 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6413A>G (n.856-6413A>G) c.868-6413A>G (n.868-6413A>G) c.862-6413A>G (n.862-6413A>G) c.334A>G (p.Thr112Ala) c.61-6413A>G (n.61-6413A>G) c.442-6413A>G (n.442-6413A>G) | gnomAD v4 |
2 | g.233760621A>T | CA351066446 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6413A>T (n.856-6413A>T) c.868-6413A>T (n.868-6413A>T) c.862-6413A>T (n.862-6413A>T) c.334A>T (p.Thr112Ser) c.61-6413A>T (n.61-6413A>T) c.442-6413A>T (n.442-6413A>T) | |
2 | g.233760622C>A | CA351066448 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6412C>A (n.856-6412C>A) c.868-6412C>A (n.868-6412C>A) c.862-6412C>A (n.862-6412C>A) c.335C>A (p.Thr112Lys) c.61-6412C>A (n.61-6412C>A) c.442-6412C>A (n.442-6412C>A) | |
2 | g.233760622C= | CA1335889262 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6412C= (n.856-6412C=) c.868-6412C= (n.868-6412C=) c.862-6412C= (n.862-6412C=) c.335C= (p.Thr112=) c.61-6412C= (n.61-6412C=) c.442-6412C= (n.442-6412C=) | |
2 | g.233760622C>G | CA2179807 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6412C>G (n.856-6412C>G) c.868-6412C>G (n.868-6412C>G) c.862-6412C>G (n.862-6412C>G) c.335C>G (p.Thr112Arg) c.61-6412C>G (n.61-6412C>G) c.442-6412C>G (n.442-6412C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760622C>T | CA351066449 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6412C>T (n.856-6412C>T) c.868-6412C>T (n.868-6412C>T) c.862-6412C>T (n.862-6412C>T) c.335C>T (p.Thr112Ile) c.61-6412C>T (n.61-6412C>T) c.442-6412C>T (n.442-6412C>T) | |
2 | g.233760623A= | CA1335889264 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6411A= (n.856-6411A=) c.868-6411A= (n.868-6411A=) c.862-6411A= (n.862-6411A=) c.336A= (p.Thr112=) c.61-6411A= (n.61-6411A=) c.442-6411A= (n.442-6411A=) | |
2 | g.233760623A>C | CA431960335 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6411A>C (n.856-6411A>C) c.868-6411A>C (n.868-6411A>C) c.862-6411A>C (n.862-6411A>C) c.336A>C (p.Thr112=) c.61-6411A>C (n.61-6411A>C) c.442-6411A>C (n.442-6411A>C) | |
2 | g.233760623A>G | CA2179808 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6411A>G (n.856-6411A>G) c.868-6411A>G (n.868-6411A>G) c.862-6411A>G (n.862-6411A>G) c.336A>G (p.Thr112=) c.61-6411A>G (n.61-6411A>G) c.442-6411A>G (n.442-6411A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760623A>T | CA431960334 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6411A>T (n.856-6411A>T) c.868-6411A>T (n.868-6411A>T) c.862-6411A>T (n.862-6411A>T) c.336A>T (p.Thr112=) c.61-6411A>T (n.61-6411A>T) c.442-6411A>T (n.442-6411A>T) | |
2 | g.233760624T>A | CA351066450 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6410T>A (n.856-6410T>A) c.868-6410T>A (n.868-6410T>A) c.862-6410T>A (n.862-6410T>A) c.337T>A (p.Tyr113Asn) c.61-6410T>A (n.61-6410T>A) c.442-6410T>A (n.442-6410T>A) | |
2 | g.233760624T>C | CA351066451 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6410T>C (n.856-6410T>C) c.868-6410T>C (n.868-6410T>C) c.862-6410T>C (n.862-6410T>C) c.337T>C (p.Tyr113His) c.61-6410T>C (n.61-6410T>C) c.442-6410T>C (n.442-6410T>C) | |
2 | g.233760624T>G | CA351066452 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6410T>G (n.856-6410T>G) c.868-6410T>G (n.868-6410T>G) c.862-6410T>G (n.862-6410T>G) c.337T>G (p.Tyr113Asp) c.61-6410T>G (n.61-6410T>G) c.442-6410T>G (n.442-6410T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760624T= | CA1335889266 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6410T= (n.856-6410T=) c.868-6410T= (n.868-6410T=) c.862-6410T= (n.862-6410T=) c.337T= (p.Tyr113=) c.61-6410T= (n.61-6410T=) c.442-6410T= (n.442-6410T=) | |
2 | g.233760625A>C | CA351066453 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6409A>C (n.856-6409A>C) c.868-6409A>C (n.868-6409A>C) c.862-6409A>C (n.862-6409A>C) c.338A>C (p.Tyr113Ser) c.61-6409A>C (n.61-6409A>C) c.442-6409A>C (n.442-6409A>C) | |
2 | g.233760625A>G | CA351066454 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6409A>G (n.856-6409A>G) c.868-6409A>G (n.868-6409A>G) c.862-6409A>G (n.862-6409A>G) c.338A>G (p.Tyr113Cys) c.61-6409A>G (n.61-6409A>G) c.442-6409A>G (n.442-6409A>G) | |
2 | g.233760625A>T | CA351066455 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6409A>T (n.856-6409A>T) c.868-6409A>T (n.868-6409A>T) c.862-6409A>T (n.862-6409A>T) c.338A>T (p.Tyr113Phe) c.61-6409A>T (n.61-6409A>T) c.442-6409A>T (n.442-6409A>T) | |
2 | g.233760626C>A | CA351066456 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C>A (n.856-6408C>A) c.868-6408C>A (n.868-6408C>A) c.862-6408C>A (n.862-6408C>A) c.339C>A (p.Tyr113Ter) c.61-6408C>A (n.61-6408C>A) c.442-6408C>A (n.442-6408C>A) | dbSNP |
2 | g.233760626C= | CA1335889268 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C= (n.856-6408C=) c.868-6408C= (n.868-6408C=) c.862-6408C= (n.862-6408C=) c.339C= (p.Tyr113=) c.61-6408C= (n.61-6408C=) c.442-6408C= (n.442-6408C=) | |
2 | g.233760626C>G | CA351066457 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C>G (n.856-6408C>G) c.868-6408C>G (n.868-6408C>G) c.862-6408C>G (n.862-6408C>G) c.339C>G (p.Tyr113Ter) c.61-6408C>G (n.61-6408C>G) c.442-6408C>G (n.442-6408C>G) | |
2 | g.233760626C>T | CA431960338 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C>T (n.856-6408C>T) c.868-6408C>T (n.868-6408C>T) c.862-6408C>T (n.862-6408C>T) c.339C>T (p.Tyr113=) c.61-6408C>T (n.61-6408C>T) c.442-6408C>T (n.442-6408C>T) | |
2 | g.233760627A>C | CA351066460 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6407A>C (n.856-6407A>C) c.868-6407A>C (n.868-6407A>C) c.862-6407A>C (n.862-6407A>C) c.340A>C (p.Lys114Gln) c.61-6407A>C (n.61-6407A>C) c.442-6407A>C (n.442-6407A>C) | |
2 | g.233760627A>G | CA351066458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6407A>G (n.856-6407A>G) c.868-6407A>G (n.868-6407A>G) c.862-6407A>G (n.862-6407A>G) c.340A>G (p.Lys114Glu) c.61-6407A>G (n.61-6407A>G) c.442-6407A>G (n.442-6407A>G) | |
2 | g.233760627A>T | CA351066459 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6407A>T (n.856-6407A>T) c.868-6407A>T (n.868-6407A>T) c.862-6407A>T (n.862-6407A>T) c.340A>T (p.Lys114Ter) c.61-6407A>T (n.61-6407A>T) c.442-6407A>T (n.442-6407A>T) | |
2 | g.233760628A>C | CA351066461 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6406A>C (n.856-6406A>C) c.868-6406A>C (n.868-6406A>C) c.862-6406A>C (n.862-6406A>C) c.341A>C (p.Lys114Thr) c.61-6406A>C (n.61-6406A>C) c.442-6406A>C (n.442-6406A>C) | |
2 | g.233760628A>G | CA351066462 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6406A>G (n.856-6406A>G) c.868-6406A>G (n.868-6406A>G) c.862-6406A>G (n.862-6406A>G) c.341A>G (p.Lys114Arg) c.61-6406A>G (n.61-6406A>G) c.442-6406A>G (n.442-6406A>G) | |
2 | g.233760628A>T | CA351066463 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6406A>T (n.856-6406A>T) c.868-6406A>T (n.868-6406A>T) c.862-6406A>T (n.862-6406A>T) c.341A>T (p.Lys114Met) c.61-6406A>T (n.61-6406A>T) c.442-6406A>T (n.442-6406A>T) | COSMIC COSMIC |
2 | g.233760629G>A | CA431960339 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G>A (n.856-6405G>A) c.868-6405G>A (n.868-6405G>A) c.862-6405G>A (n.862-6405G>A) c.342G>A (p.Lys114=) c.61-6405G>A (n.61-6405G>A) c.442-6405G>A (n.442-6405G>A) | gnomAD v4 |
2 | g.233760629G>C | CA351066464 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G>C (n.856-6405G>C) c.868-6405G>C (n.868-6405G>C) c.862-6405G>C (n.862-6405G>C) c.342G>C (p.Lys114Asn) c.61-6405G>C (n.61-6405G>C) c.442-6405G>C (n.442-6405G>C) | gnomAD v4 |
2 | g.233760629G= | CA1335889269 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G= (n.856-6405G=) c.868-6405G= (n.868-6405G=) c.862-6405G= (n.862-6405G=) c.342G= (p.Lys114=) c.61-6405G= (n.61-6405G=) c.442-6405G= (n.442-6405G=) | |
2 | g.233760629G>T | CA351066465 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G>T (n.856-6405G>T) c.868-6405G>T (n.868-6405G>T) c.862-6405G>T (n.862-6405G>T) c.342G>T (p.Lys114Asn) c.61-6405G>T (n.61-6405G>T) c.442-6405G>T (n.442-6405G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760630A= | CA1335889271 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6404A= (n.856-6404A=) c.868-6404A= (n.868-6404A=) c.862-6404A= (n.862-6404A=) c.343A= (p.Lys115=) c.61-6404A= (n.61-6404A=) c.442-6404A= (n.442-6404A=) | |
2 | g.233760630A>C | CA351066466 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6404A>C (n.856-6404A>C) c.868-6404A>C (n.868-6404A>C) c.862-6404A>C (n.862-6404A>C) c.343A>C (p.Lys115Gln) c.61-6404A>C (n.61-6404A>C) c.442-6404A>C (n.442-6404A>C) | |
2 | g.233760630A>G | CA2179809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6404A>G (n.856-6404A>G) c.868-6404A>G (n.868-6404A>G) c.862-6404A>G (n.862-6404A>G) c.343A>G (p.Lys115Glu) c.61-6404A>G (n.61-6404A>G) c.442-6404A>G (n.442-6404A>G) | dbSNP ExAC gnomAD v4 |
2 | g.233760630A>T | CA351066467 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6404A>T (n.856-6404A>T) c.868-6404A>T (n.868-6404A>T) c.862-6404A>T (n.862-6404A>T) c.343A>T (p.Lys115Ter) c.61-6404A>T (n.61-6404A>T) c.442-6404A>T (n.442-6404A>T) | |
2 | g.233760631A>C | CA351066468 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6403A>C (n.856-6403A>C) c.868-6403A>C (n.868-6403A>C) c.862-6403A>C (n.862-6403A>C) c.344A>C (p.Lys115Thr) c.61-6403A>C (n.61-6403A>C) c.442-6403A>C (n.442-6403A>C) | |
2 | g.233760631A>G | CA351066469 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6403A>G (n.856-6403A>G) c.868-6403A>G (n.868-6403A>G) c.862-6403A>G (n.862-6403A>G) c.344A>G (p.Lys115Arg) c.61-6403A>G (n.61-6403A>G) c.442-6403A>G (n.442-6403A>G) | |
2 | g.233760631A>T | CA351066470 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6403A>T (n.856-6403A>T) c.868-6403A>T (n.868-6403A>T) c.862-6403A>T (n.862-6403A>T) c.344A>T (p.Lys115Ile) c.61-6403A>T (n.61-6403A>T) c.442-6403A>T (n.442-6403A>T) | |
2 | g.233760632A= | CA1335889273 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6402A= (n.856-6402A=) c.868-6402A= (n.868-6402A=) c.862-6402A= (n.862-6402A=) c.345A= (p.Lys115=) c.61-6402A= (n.61-6402A=) c.442-6402A= (n.442-6402A=) | |
2 | g.233760632A>C | CA2179810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6402A>C (n.856-6402A>C) c.868-6402A>C (n.868-6402A>C) c.862-6402A>C (n.862-6402A>C) c.345A>C (p.Lys115Asn) c.61-6402A>C (n.61-6402A>C) c.442-6402A>C (n.442-6402A>C) | dbSNP ExAC |
2 | g.233760632A>G | CA431960342 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6402A>G (n.856-6402A>G) c.868-6402A>G (n.868-6402A>G) c.862-6402A>G (n.862-6402A>G) c.345A>G (p.Lys115=) c.61-6402A>G (n.61-6402A>G) c.442-6402A>G (n.442-6402A>G) | |
2 | g.233760632A>T | CA351066471 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6402A>T (n.856-6402A>T) c.868-6402A>T (n.868-6402A>T) c.862-6402A>T (n.862-6402A>T) c.345A>T (p.Lys115Asn) c.61-6402A>T (n.61-6402A>T) c.442-6402A>T (n.442-6402A>T) | dbSNP gnomAD v2 |
2 | g.233760633A= | CA1335889275 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6401A= (n.856-6401A=) c.868-6401A= (n.868-6401A=) c.862-6401A= (n.862-6401A=) c.346A= (p.Ile116=) c.61-6401A= (n.61-6401A=) c.442-6401A= (n.442-6401A=) | |
2 | g.233760633A>C | CA351066472 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6401A>C (n.856-6401A>C) c.868-6401A>C (n.868-6401A>C) c.862-6401A>C (n.862-6401A>C) c.346A>C (p.Ile116Leu) c.61-6401A>C (n.61-6401A>C) c.442-6401A>C (n.442-6401A>C) | |
2 | g.233760633A>G | CA351066474 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6401A>G (n.856-6401A>G) c.868-6401A>G (n.868-6401A>G) c.862-6401A>G (n.862-6401A>G) c.346A>G (p.Ile116Val) c.61-6401A>G (n.61-6401A>G) c.442-6401A>G (n.442-6401A>G) | dbSNP |
2 | g.233760633A>T | CA351066473 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6401A>T (n.856-6401A>T) c.868-6401A>T (n.868-6401A>T) c.862-6401A>T (n.862-6401A>T) c.346A>T (p.Ile116Leu) c.61-6401A>T (n.61-6401A>T) c.442-6401A>T (n.442-6401A>T) | |
2 | g.233760634T>A | CA67589812 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6400T>A (n.856-6400T>A) c.868-6400T>A (n.868-6400T>A) c.862-6400T>A (n.862-6400T>A) c.347T>A (p.Ile116Lys) c.61-6400T>A (n.61-6400T>A) c.442-6400T>A (n.442-6400T>A) | dbSNP gnomAD v2 COSMIC |
2 | g.233760634T>C | CA351066475 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6400T>C (n.856-6400T>C) c.868-6400T>C (n.868-6400T>C) c.862-6400T>C (n.862-6400T>C) c.347T>C (p.Ile116Thr) c.61-6400T>C (n.61-6400T>C) c.442-6400T>C (n.442-6400T>C) | |
2 | g.233760634T>G | CA351066476 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6400T>G (n.856-6400T>G) c.868-6400T>G (n.868-6400T>G) c.862-6400T>G (n.862-6400T>G) c.347T>G (p.Ile116Arg) c.61-6400T>G (n.61-6400T>G) c.442-6400T>G (n.442-6400T>G) | |
2 | g.233760634T= | CA1335889278 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6400T= (n.856-6400T=) c.868-6400T= (n.868-6400T=) c.862-6400T= (n.862-6400T=) c.347T= (p.Ile116=) c.61-6400T= (n.61-6400T=) c.442-6400T= (n.442-6400T=) | |
2 | g.233760635A= | CA1335889284 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6399A= (n.856-6399A=) c.868-6399A= (n.868-6399A=) c.862-6399A= (n.862-6399A=) c.348A= (p.Ile116=) c.61-6399A= (n.61-6399A=) c.442-6399A= (n.442-6399A=) | |
2 | g.233760635A>C | CA431960344 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6399A>C (n.856-6399A>C) c.868-6399A>C (n.868-6399A>C) c.862-6399A>C (n.862-6399A>C) c.348A>C (p.Ile116=) c.61-6399A>C (n.61-6399A>C) c.442-6399A>C (n.442-6399A>C) | |
2 | g.233760635A>G | CA351066477 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6399A>G (n.856-6399A>G) c.868-6399A>G (n.868-6399A>G) c.862-6399A>G (n.862-6399A>G) c.348A>G (p.Ile116Met) c.61-6399A>G (n.61-6399A>G) c.442-6399A>G (n.442-6399A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760635A>T | CA431960345 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6399A>T (n.856-6399A>T) c.868-6399A>T (n.868-6399A>T) c.862-6399A>T (n.862-6399A>T) c.348A>T (p.Ile116=) c.61-6399A>T (n.61-6399A>T) c.442-6399A>T (n.442-6399A>T) | |
2 | g.233760640dup | CA2179811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6394dup (n.856-6394dup) c.868-6394dup (n.868-6394dup) c.862-6394dup (n.862-6394dup) c.353dup (p.Asp119GlyfsTer28) c.61-6394dup (n.61-6394dup) c.442-6394dup (n.442-6394dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760640del | CA2577284378 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6394del (n.856-6394del) c.868-6394del (n.868-6394del) c.862-6394del (n.862-6394del) c.353del (p.Lys118ArgfsTer?) c.61-6394del (n.61-6394del) c.442-6394del (n.442-6394del) | |
2 | g.233760636A= | CA1335889286 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6398A= (n.856-6398A=) c.868-6398A= (n.868-6398A=) c.862-6398A= (n.862-6398A=) c.349A= (p.Lys117=) c.61-6398A= (n.61-6398A=) c.442-6398A= (n.442-6398A=) | |
2 | g.233760636A>C | CA351066478 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6398A>C (n.856-6398A>C) c.868-6398A>C (n.868-6398A>C) c.862-6398A>C (n.862-6398A>C) c.349A>C (p.Lys117Gln) c.61-6398A>C (n.61-6398A>C) c.442-6398A>C (n.442-6398A>C) | |
2 | g.233760636A>G | CA351066479 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6398A>G (n.856-6398A>G) c.868-6398A>G (n.868-6398A>G) c.862-6398A>G (n.862-6398A>G) c.349A>G (p.Lys117Glu) c.61-6398A>G (n.61-6398A>G) c.442-6398A>G (n.442-6398A>G) | dbSNP gnomAD v4 |
2 | g.233760636A>T | CA351066480 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6398A>T (n.856-6398A>T) c.868-6398A>T (n.868-6398A>T) c.862-6398A>T (n.862-6398A>T) c.349A>T (p.Lys117Ter) c.61-6398A>T (n.61-6398A>T) c.442-6398A>T (n.442-6398A>T) | |
2 | g.233760637A= | CA1335889288 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6397A= (n.856-6397A=) c.868-6397A= (n.868-6397A=) c.862-6397A= (n.862-6397A=) c.350A= (p.Lys117=) c.61-6397A= (n.61-6397A=) c.442-6397A= (n.442-6397A=) | |
2 | g.233760637A>C | CA351066481 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6397A>C (n.856-6397A>C) c.868-6397A>C (n.868-6397A>C) c.862-6397A>C (n.862-6397A>C) c.350A>C (p.Lys117Thr) c.61-6397A>C (n.61-6397A>C) c.442-6397A>C (n.442-6397A>C) | COSMIC |
2 | g.233760637A>G | CA351066482 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6397A>G (n.856-6397A>G) c.868-6397A>G (n.868-6397A>G) c.862-6397A>G (n.862-6397A>G) c.350A>G (p.Lys117Arg) c.61-6397A>G (n.61-6397A>G) c.442-6397A>G (n.442-6397A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760637A>T | CA351066483 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6397A>T (n.856-6397A>T) c.868-6397A>T (n.868-6397A>T) c.862-6397A>T (n.862-6397A>T) c.350A>T (p.Lys117Ile) c.61-6397A>T (n.61-6397A>T) c.442-6397A>T (n.442-6397A>T) | |
2 | g.233760638A= | CA1335889290 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6396A= (n.856-6396A=) c.868-6396A= (n.868-6396A=) c.862-6396A= (n.862-6396A=) c.351A= (p.Lys117=) c.61-6396A= (n.61-6396A=) c.442-6396A= (n.442-6396A=) | |
2 | g.233760638A>C | CA2179812 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6396A>C (n.856-6396A>C) c.868-6396A>C (n.868-6396A>C) c.862-6396A>C (n.862-6396A>C) c.351A>C (p.Lys117Asn) c.61-6396A>C (n.61-6396A>C) c.442-6396A>C (n.442-6396A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760638A>G | CA431960347 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6396A>G (n.856-6396A>G) c.868-6396A>G (n.868-6396A>G) c.862-6396A>G (n.862-6396A>G) c.351A>G (p.Lys117=) c.61-6396A>G (n.61-6396A>G) c.442-6396A>G (n.442-6396A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760638A>T | CA351066484 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6396A>T (n.856-6396A>T) c.868-6396A>T (n.868-6396A>T) c.862-6396A>T (n.862-6396A>T) c.351A>T (p.Lys117Asn) c.61-6396A>T (n.61-6396A>T) c.442-6396A>T (n.442-6396A>T) | |
2 | g.233760639A>C | CA351066487 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6395A>C (n.856-6395A>C) c.868-6395A>C (n.868-6395A>C) c.862-6395A>C (n.862-6395A>C) c.352A>C (p.Lys118Gln) c.61-6395A>C (n.61-6395A>C) c.442-6395A>C (n.442-6395A>C) | |
2 | g.233760639A>G | CA351066486 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6395A>G (n.856-6395A>G) c.868-6395A>G (n.868-6395A>G) c.862-6395A>G (n.862-6395A>G) c.352A>G (p.Lys118Glu) c.61-6395A>G (n.61-6395A>G) c.442-6395A>G (n.442-6395A>G) | gnomAD v4 |
2 | g.233760639A>T | CA351066485 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6395A>T (n.856-6395A>T) c.868-6395A>T (n.868-6395A>T) c.862-6395A>T (n.862-6395A>T) c.352A>T (p.Lys118Ter) c.61-6395A>T (n.61-6395A>T) c.442-6395A>T (n.442-6395A>T) | |
2 | g.233760640A>C | CA351066488 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6394A>C (n.856-6394A>C) c.868-6394A>C (n.868-6394A>C) c.862-6394A>C (n.862-6394A>C) c.353A>C (p.Lys118Thr) c.61-6394A>C (n.61-6394A>C) c.442-6394A>C (n.442-6394A>C) | |
2 | g.233760640A>G | CA351066489 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6394A>G (n.856-6394A>G) c.868-6394A>G (n.868-6394A>G) c.862-6394A>G (n.862-6394A>G) c.353A>G (p.Lys118Arg) c.61-6394A>G (n.61-6394A>G) c.442-6394A>G (n.442-6394A>G) | |
2 | g.233760640A>T | CA351066490 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6394A>T (n.856-6394A>T) c.868-6394A>T (n.868-6394A>T) c.862-6394A>T (n.862-6394A>T) c.353A>T (p.Lys118Met) c.61-6394A>T (n.61-6394A>T) c.442-6394A>T (n.442-6394A>T) | |
2 | g.233760641G>A | CA431960349 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6393G>A (n.856-6393G>A) c.868-6393G>A (n.868-6393G>A) c.862-6393G>A (n.862-6393G>A) c.354G>A (p.Lys118=) c.61-6393G>A (n.61-6393G>A) c.442-6393G>A (n.442-6393G>A) | |
2 | g.233760641G>C | CA351066491 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6393G>C (n.856-6393G>C) c.868-6393G>C (n.868-6393G>C) c.862-6393G>C (n.862-6393G>C) c.354G>C (p.Lys118Asn) c.61-6393G>C (n.61-6393G>C) c.442-6393G>C (n.442-6393G>C) | |
2 | g.233760641G= | CA1335889292 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6393G= (n.856-6393G=) c.868-6393G= (n.868-6393G=) c.862-6393G= (n.862-6393G=) c.354G= (p.Lys118=) c.61-6393G= (n.61-6393G=) c.442-6393G= (n.442-6393G=) | |
2 | g.233760641G>T | CA2179813 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6393G>T (n.856-6393G>T) c.868-6393G>T (n.868-6393G>T) c.862-6393G>T (n.862-6393G>T) c.354G>T (p.Lys118Asn) c.61-6393G>T (n.61-6393G>T) c.442-6393G>T (n.442-6393G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760642G>A | CA351066492 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6392G>A (n.856-6392G>A) c.868-6392G>A (n.868-6392G>A) c.862-6392G>A (n.862-6392G>A) c.355G>A (p.Asp119Asn) c.61-6392G>A (n.61-6392G>A) c.442-6392G>A (n.442-6392G>A) | ClinVar |
2 | g.233760642G>C | CA351066493 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6392G>C (n.856-6392G>C) c.868-6392G>C (n.868-6392G>C) c.862-6392G>C (n.862-6392G>C) c.355G>C (p.Asp119His) c.61-6392G>C (n.61-6392G>C) c.442-6392G>C (n.442-6392G>C) | |
2 | g.233760642G>T | CA351066494 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6392G>T (n.856-6392G>T) c.868-6392G>T (n.868-6392G>T) c.862-6392G>T (n.862-6392G>T) c.355G>T (p.Asp119Tyr) c.61-6392G>T (n.61-6392G>T) c.442-6392G>T (n.442-6392G>T) | |
2 | g.233760643A= | CA1335889294 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6391A= (n.856-6391A=) c.868-6391A= (n.868-6391A=) c.862-6391A= (n.862-6391A=) c.356A= (p.Asp119=) c.61-6391A= (n.61-6391A=) c.442-6391A= (n.442-6391A=) | |
2 | g.233760643A>C | CA351066495 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6391A>C (n.856-6391A>C) c.868-6391A>C (n.868-6391A>C) c.862-6391A>C (n.862-6391A>C) c.356A>C (p.Asp119Ala) c.61-6391A>C (n.61-6391A>C) c.442-6391A>C (n.442-6391A>C) | |
2 | g.233760643A>G | CA2179814 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6391A>G (n.856-6391A>G) c.868-6391A>G (n.868-6391A>G) c.862-6391A>G (n.862-6391A>G) c.356A>G (p.Asp119Gly) c.61-6391A>G (n.61-6391A>G) c.442-6391A>G (n.442-6391A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.233760643A>T | CA351066496 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6391A>T (n.856-6391A>T) c.868-6391A>T (n.868-6391A>T) c.862-6391A>T (n.862-6391A>T) c.356A>T (p.Asp119Val) c.61-6391A>T (n.61-6391A>T) c.442-6391A>T (n.442-6391A>T) | |
2 | g.233760644C>A | CA351066497 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6390C>A (n.856-6390C>A) c.868-6390C>A (n.868-6390C>A) c.862-6390C>A (n.862-6390C>A) c.357C>A (p.Asp119Glu) c.61-6390C>A (n.61-6390C>A) c.442-6390C>A (n.442-6390C>A) | |
2 | g.233760644C>G | CA351066498 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6390C>G (n.856-6390C>G) c.868-6390C>G (n.868-6390C>G) c.862-6390C>G (n.862-6390C>G) c.357C>G (p.Asp119Glu) c.61-6390C>G (n.61-6390C>G) c.442-6390C>G (n.442-6390C>G) | |
2 | g.233760644C>T | CA431960379 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6390C>T (n.856-6390C>T) c.868-6390C>T (n.868-6390C>T) c.862-6390C>T (n.862-6390C>T) c.357C>T (p.Asp119=) c.61-6390C>T (n.61-6390C>T) c.442-6390C>T (n.442-6390C>T) | |
2 | g.233760646_233760647del | CA2586965606 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6388_856-6387del (n.856-6388_856-6387del) c.868-6388_868-6387del (n.868-6388_868-6387del) c.862-6388_862-6387del (n.862-6388_862-6387del) c.359_360del (p.Ser120CysfsTer26) c.61-6388_61-6387del (n.61-6388_61-6387del) c.442-6388_442-6387del (n.442-6388_442-6387del) | gnomAD v4 |
2 | g.233760645T>A | CA2179815 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6389T>A (n.856-6389T>A) c.868-6389T>A (n.868-6389T>A) c.862-6389T>A (n.862-6389T>A) c.358T>A (p.Ser120Thr) c.61-6389T>A (n.61-6389T>A) c.442-6389T>A (n.442-6389T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760645T>C | CA351066500 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6389T>C (n.856-6389T>C) c.868-6389T>C (n.868-6389T>C) c.862-6389T>C (n.862-6389T>C) c.358T>C (p.Ser120Pro) c.61-6389T>C (n.61-6389T>C) c.442-6389T>C (n.442-6389T>C) | ClinVar dbSNP |
2 | g.233760645T>G | CA351066499 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6389T>G (n.856-6389T>G) c.868-6389T>G (n.868-6389T>G) c.862-6389T>G (n.862-6389T>G) c.358T>G (p.Ser120Ala) c.61-6389T>G (n.61-6389T>G) c.442-6389T>G (n.442-6389T>G) | |
2 | g.233760645T= | CA1335889296 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6389T= (n.856-6389T=) c.868-6389T= (n.868-6389T=) c.862-6389T= (n.862-6389T=) c.358T= (p.Ser120=) c.61-6389T= (n.61-6389T=) c.442-6389T= (n.442-6389T=) | |
2 | g.233760646C>A | CA351066501 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6388C>A (n.856-6388C>A) c.868-6388C>A (n.868-6388C>A) c.862-6388C>A (n.862-6388C>A) c.359C>A (p.Ser120Tyr) c.61-6388C>A (n.61-6388C>A) c.442-6388C>A (n.442-6388C>A) | |
2 | g.233760646C>G | CA351066502 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6388C>G (n.856-6388C>G) c.868-6388C>G (n.868-6388C>G) c.862-6388C>G (n.862-6388C>G) c.359C>G (p.Ser120Cys) c.61-6388C>G (n.61-6388C>G) c.442-6388C>G (n.442-6388C>G) | |
2 | g.233760646C>T | CA351066503 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6388C>T (n.856-6388C>T) c.868-6388C>T (n.868-6388C>T) c.862-6388C>T (n.862-6388C>T) c.359C>T (p.Ser120Phe) c.61-6388C>T (n.61-6388C>T) c.442-6388C>T (n.442-6388C>T) | |
2 | g.233760647T>A | CA431960380 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6387T>A (n.856-6387T>A) c.868-6387T>A (n.868-6387T>A) c.862-6387T>A (n.862-6387T>A) c.360T>A (p.Ser120=) c.61-6387T>A (n.61-6387T>A) c.442-6387T>A (n.442-6387T>A) | |
2 | g.233760647T>C | CA431960381 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6387T>C (n.856-6387T>C) c.868-6387T>C (n.868-6387T>C) c.862-6387T>C (n.862-6387T>C) c.360T>C (p.Ser120=) c.61-6387T>C (n.61-6387T>C) c.442-6387T>C (n.442-6387T>C) | |
2 | g.233760647T>G | CA431960382 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6387T>G (n.856-6387T>G) c.868-6387T>G (n.868-6387T>G) c.862-6387T>G (n.862-6387T>G) c.360T>G (p.Ser120=) c.61-6387T>G (n.61-6387T>G) c.442-6387T>G (n.442-6387T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760647T= | CA1335889298 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6387T= (n.856-6387T=) c.868-6387T= (n.868-6387T=) c.862-6387T= (n.862-6387T=) c.360T= (p.Ser120=) c.61-6387T= (n.61-6387T=) c.442-6387T= (n.442-6387T=) | |
2 | g.233760648G>A | CA351066504 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6386G>A (n.856-6386G>A) c.868-6386G>A (n.868-6386G>A) c.862-6386G>A (n.862-6386G>A) c.361G>A (p.Ala121Thr) c.61-6386G>A (n.61-6386G>A) c.442-6386G>A (n.442-6386G>A) | |
2 | g.233760648G>C | CA351066505 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6386G>C (n.856-6386G>C) c.868-6386G>C (n.868-6386G>C) c.862-6386G>C (n.862-6386G>C) c.361G>C (p.Ala121Pro) c.61-6386G>C (n.61-6386G>C) c.442-6386G>C (n.442-6386G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.233760648G= | CA1335889301 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6386G= (n.856-6386G=) c.868-6386G= (n.868-6386G=) c.862-6386G= (n.862-6386G=) c.361G= (p.Ala121=) c.61-6386G= (n.61-6386G=) c.442-6386G= (n.442-6386G=) | |
2 | g.233760648G>T | CA351066506 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6386G>T (n.856-6386G>T) c.868-6386G>T (n.868-6386G>T) c.862-6386G>T (n.862-6386G>T) c.361G>T (p.Ala121Ser) c.61-6386G>T (n.61-6386G>T) c.442-6386G>T (n.442-6386G>T) | |
2 | g.233760649C>A | CA351066507 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6385C>A (n.856-6385C>A) c.868-6385C>A (n.868-6385C>A) c.862-6385C>A (n.862-6385C>A) c.362C>A (p.Ala121Asp) c.61-6385C>A (n.61-6385C>A) c.442-6385C>A (n.442-6385C>A) | |
2 | g.233760649C>G | CA351066508 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6385C>G (n.856-6385C>G) c.868-6385C>G (n.868-6385C>G) c.862-6385C>G (n.862-6385C>G) c.362C>G (p.Ala121Gly) c.61-6385C>G (n.61-6385C>G) c.442-6385C>G (n.442-6385C>G) | |
2 | g.233760649C>T | CA351066509 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6385C>T (n.856-6385C>T) c.868-6385C>T (n.868-6385C>T) c.862-6385C>T (n.862-6385C>T) c.362C>T (p.Ala121Val) c.61-6385C>T (n.61-6385C>T) c.442-6385C>T (n.442-6385C>T) | gnomAD v4 |
2 | g.233760650T>A | CA431960385 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6384T>A (n.856-6384T>A) c.868-6384T>A (n.868-6384T>A) c.862-6384T>A (n.862-6384T>A) c.363T>A (p.Ala121=) c.61-6384T>A (n.61-6384T>A) c.442-6384T>A (n.442-6384T>A) | |
2 | g.233760650T>C | CA431960384 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6384T>C (n.856-6384T>C) c.868-6384T>C (n.868-6384T>C) c.862-6384T>C (n.862-6384T>C) c.363T>C (p.Ala121=) c.61-6384T>C (n.61-6384T>C) c.442-6384T>C (n.442-6384T>C) | |
2 | g.233760650T>G | CA431960383 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6384T>G (n.856-6384T>G) c.868-6384T>G (n.868-6384T>G) c.862-6384T>G (n.862-6384T>G) c.363T>G (p.Ala121=) c.61-6384T>G (n.61-6384T>G) c.442-6384T>G (n.442-6384T>G) | |
2 | g.233760651A= | CA1335889303 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6383A= (n.856-6383A=) c.868-6383A= (n.868-6383A=) c.862-6383A= (n.862-6383A=) c.364A= (p.Met122=) c.61-6383A= (n.61-6383A=) c.442-6383A= (n.442-6383A=) | |
2 | g.233760651A>C | CA351066510 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6383A>C (n.856-6383A>C) c.868-6383A>C (n.868-6383A>C) c.862-6383A>C (n.862-6383A>C) c.364A>C (p.Met122Leu) c.61-6383A>C (n.61-6383A>C) c.442-6383A>C (n.442-6383A>C) | |
2 | g.233760651A>G | CA351066511 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6383A>G (n.856-6383A>G) c.868-6383A>G (n.868-6383A>G) c.862-6383A>G (n.862-6383A>G) c.364A>G (p.Met122Val) c.61-6383A>G (n.61-6383A>G) c.442-6383A>G (n.442-6383A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760651A>T | CA351066512 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6383A>T (n.856-6383A>T) c.868-6383A>T (n.868-6383A>T) c.862-6383A>T (n.862-6383A>T) c.364A>T (p.Met122Leu) c.61-6383A>T (n.61-6383A>T) c.442-6383A>T (n.442-6383A>T) | |
2 | g.233760652T>A | CA351066515 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6382T>A (n.856-6382T>A) c.868-6382T>A (n.868-6382T>A) c.862-6382T>A (n.862-6382T>A) c.365T>A (p.Met122Lys) c.61-6382T>A (n.61-6382T>A) c.442-6382T>A (n.442-6382T>A) | |
2 | g.233760652T>C | CA351066513 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6382T>C (n.856-6382T>C) c.868-6382T>C (n.868-6382T>C) c.862-6382T>C (n.862-6382T>C) c.365T>C (p.Met122Thr) c.61-6382T>C (n.61-6382T>C) c.442-6382T>C (n.442-6382T>C) | |
2 | g.233760652T>G | CA351066514 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6382T>G (n.856-6382T>G) c.868-6382T>G (n.868-6382T>G) c.862-6382T>G (n.862-6382T>G) c.365T>G (p.Met122Arg) c.61-6382T>G (n.61-6382T>G) c.442-6382T>G (n.442-6382T>G) | |
2 | g.233760653G>A | CA351066516 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6381G>A (n.856-6381G>A) c.868-6381G>A (n.868-6381G>A) c.862-6381G>A (n.862-6381G>A) c.366G>A (p.Met122Ile) c.61-6381G>A (n.61-6381G>A) c.442-6381G>A (n.442-6381G>A) | |
2 | g.233760653G>C | CA351066517 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6381G>C (n.856-6381G>C) c.868-6381G>C (n.868-6381G>C) c.862-6381G>C (n.862-6381G>C) c.366G>C (p.Met122Ile) c.61-6381G>C (n.61-6381G>C) c.442-6381G>C (n.442-6381G>C) | |
2 | g.233760653G>T | CA351066518 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6381G>T (n.856-6381G>T) c.868-6381G>T (n.868-6381G>T) c.862-6381G>T (n.862-6381G>T) c.366G>T (p.Met122Ile) c.61-6381G>T (n.61-6381G>T) c.442-6381G>T (n.442-6381G>T) | |
2 | g.233760654C>A | CA351066519 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6380C>A (n.856-6380C>A) c.868-6380C>A (n.868-6380C>A) c.862-6380C>A (n.862-6380C>A) c.367C>A (p.Leu123Ile) c.61-6380C>A (n.61-6380C>A) c.442-6380C>A (n.442-6380C>A) | |
2 | g.233760654C= | CA1335889305 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6380C= (n.856-6380C=) c.868-6380C= (n.868-6380C=) c.862-6380C= (n.862-6380C=) c.367C= (p.Leu123=) c.61-6380C= (n.61-6380C=) c.442-6380C= (n.442-6380C=) | |
2 | g.233760654C>G | CA351066520 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6380C>G (n.856-6380C>G) c.868-6380C>G (n.868-6380C>G) c.862-6380C>G (n.862-6380C>G) c.367C>G (p.Leu123Val) c.61-6380C>G (n.61-6380C>G) c.442-6380C>G (n.442-6380C>G) | |
2 | g.233760654C>T | CA351066521 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6380C>T (n.856-6380C>T) c.868-6380C>T (n.868-6380C>T) c.862-6380C>T (n.862-6380C>T) c.367C>T (p.Leu123Phe) c.61-6380C>T (n.61-6380C>T) c.442-6380C>T (n.442-6380C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760655T>A | CA351066522 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6379T>A (n.856-6379T>A) c.868-6379T>A (n.868-6379T>A) c.862-6379T>A (n.862-6379T>A) c.368T>A (p.Leu123His) c.61-6379T>A (n.61-6379T>A) c.442-6379T>A (n.442-6379T>A) | |
2 | g.233760655T>C | CA351066523 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6379T>C (n.856-6379T>C) c.868-6379T>C (n.868-6379T>C) c.862-6379T>C (n.862-6379T>C) c.368T>C (p.Leu123Pro) c.61-6379T>C (n.61-6379T>C) c.442-6379T>C (n.442-6379T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760655T>G | CA351066524 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6379T>G (n.856-6379T>G) c.868-6379T>G (n.868-6379T>G) c.862-6379T>G (n.862-6379T>G) c.368T>G (p.Leu123Arg) c.61-6379T>G (n.61-6379T>G) c.442-6379T>G (n.442-6379T>G) | |
2 | g.233760655T= | CA1335889308 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6379T= (n.856-6379T=) c.868-6379T= (n.868-6379T=) c.862-6379T= (n.862-6379T=) c.368T= (p.Leu123=) c.61-6379T= (n.61-6379T=) c.442-6379T= (n.442-6379T=) | |
2 | g.233760656T>A | CA431960388 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6378T>A (n.856-6378T>A) c.868-6378T>A (n.868-6378T>A) c.862-6378T>A (n.862-6378T>A) c.369T>A (p.Leu123=) c.61-6378T>A (n.61-6378T>A) c.442-6378T>A (n.442-6378T>A) | |
2 | g.233760656T>C | CA431960386 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6378T>C (n.856-6378T>C) c.868-6378T>C (n.868-6378T>C) c.862-6378T>C (n.862-6378T>C) c.369T>C (p.Leu123=) c.61-6378T>C (n.61-6378T>C) c.442-6378T>C (n.442-6378T>C) | dbSNP |
2 | g.233760656T>G | CA431960387 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6378T>G (n.856-6378T>G) c.868-6378T>G (n.868-6378T>G) c.862-6378T>G (n.862-6378T>G) c.369T>G (p.Leu123=) c.61-6378T>G (n.61-6378T>G) c.442-6378T>G (n.442-6378T>G) | |
2 | g.233760657T>A | CA351066525 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6377T>A (n.856-6377T>A) c.868-6377T>A (n.868-6377T>A) c.862-6377T>A (n.862-6377T>A) c.370T>A (p.Leu124Met) c.61-6377T>A (n.61-6377T>A) c.442-6377T>A (n.442-6377T>A) | |
2 | g.233760657T>C | CA431960389 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6377T>C (n.856-6377T>C) c.868-6377T>C (n.868-6377T>C) c.862-6377T>C (n.862-6377T>C) c.370T>C (p.Leu124=) c.61-6377T>C (n.61-6377T>C) c.442-6377T>C (n.442-6377T>C) | |
2 | g.233760657T>G | CA351066526 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6377T>G (n.856-6377T>G) c.868-6377T>G (n.868-6377T>G) c.862-6377T>G (n.862-6377T>G) c.370T>G (p.Leu124Val) c.61-6377T>G (n.61-6377T>G) c.442-6377T>G (n.442-6377T>G) | gnomAD v4 |
2 | g.233760658T>A | CA351066529 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6376T>A (n.856-6376T>A) c.868-6376T>A (n.868-6376T>A) c.862-6376T>A (n.862-6376T>A) c.371T>A (p.Leu124Ter) c.61-6376T>A (n.61-6376T>A) c.442-6376T>A (n.442-6376T>A) | |
2 | g.233760658T>C | CA351066528 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6376T>C (n.856-6376T>C) c.868-6376T>C (n.868-6376T>C) c.862-6376T>C (n.862-6376T>C) c.371T>C (p.Leu124Ser) c.61-6376T>C (n.61-6376T>C) c.442-6376T>C (n.442-6376T>C) | |
2 | g.233760658T>G | CA351066527 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6376T>G (n.856-6376T>G) c.868-6376T>G (n.868-6376T>G) c.862-6376T>G (n.862-6376T>G) c.371T>G (p.Leu124Trp) c.61-6376T>G (n.61-6376T>G) c.442-6376T>G (n.442-6376T>G) | |
2 | g.233760659G>A | CA67589842 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6375G>A (n.856-6375G>A) c.868-6375G>A (n.868-6375G>A) c.862-6375G>A (n.862-6375G>A) c.372G>A (p.Leu124=) c.61-6375G>A (n.61-6375G>A) c.442-6375G>A (n.442-6375G>A) | dbSNP |
2 | g.233760659G>C | CA351066530 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6375G>C (n.856-6375G>C) c.868-6375G>C (n.868-6375G>C) c.862-6375G>C (n.862-6375G>C) c.372G>C (p.Leu124Phe) c.61-6375G>C (n.61-6375G>C) c.442-6375G>C (n.442-6375G>C) | |
2 | g.233760659G= | CA1335889310 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6375G= (n.856-6375G=) c.868-6375G= (n.868-6375G=) c.862-6375G= (n.862-6375G=) c.372G= (p.Leu124=) c.61-6375G= (n.61-6375G=) c.442-6375G= (n.442-6375G=) | |
2 | g.233760659G>T | CA2179816 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6375G>T (n.856-6375G>T) c.868-6375G>T (n.868-6375G>T) c.862-6375G>T (n.862-6375G>T) c.372G>T (p.Leu124Phe) c.61-6375G>T (n.61-6375G>T) c.442-6375G>T (n.442-6375G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760660T>A | CA351066531 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6374T>A (n.856-6374T>A) c.868-6374T>A (n.868-6374T>A) c.862-6374T>A (n.862-6374T>A) c.373T>A (p.Ser125Thr) c.61-6374T>A (n.61-6374T>A) c.442-6374T>A (n.442-6374T>A) | |
2 | g.233760660T>C | CA351066532 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6374T>C (n.856-6374T>C) c.868-6374T>C (n.868-6374T>C) c.862-6374T>C (n.862-6374T>C) c.373T>C (p.Ser125Pro) c.61-6374T>C (n.61-6374T>C) c.442-6374T>C (n.442-6374T>C) | gnomAD v4 |
2 | g.233760660T>G | CA351066533 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6374T>G (n.856-6374T>G) c.868-6374T>G (n.868-6374T>G) c.862-6374T>G (n.862-6374T>G) c.373T>G (p.Ser125Ala) c.61-6374T>G (n.61-6374T>G) c.442-6374T>G (n.442-6374T>G) | |
2 | g.233760661C>A | CA351066534 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6373C>A (n.856-6373C>A) c.868-6373C>A (n.868-6373C>A) c.862-6373C>A (n.862-6373C>A) c.374C>A (p.Ser125Tyr) c.61-6373C>A (n.61-6373C>A) c.442-6373C>A (n.442-6373C>A) | |
2 | g.233760661C>G | CA351066535 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6373C>G (n.856-6373C>G) c.868-6373C>G (n.868-6373C>G) c.862-6373C>G (n.862-6373C>G) c.374C>G (p.Ser125Cys) c.61-6373C>G (n.61-6373C>G) c.442-6373C>G (n.442-6373C>G) | |
2 | g.233760661C>T | CA351066536 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6373C>T (n.856-6373C>T) c.868-6373C>T (n.868-6373C>T) c.862-6373C>T (n.862-6373C>T) c.374C>T (p.Ser125Phe) c.61-6373C>T (n.61-6373C>T) c.442-6373C>T (n.442-6373C>T) | |
2 | g.233760662T>A | CA431960391 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6372T>A (n.856-6372T>A) c.868-6372T>A (n.868-6372T>A) c.862-6372T>A (n.862-6372T>A) c.375T>A (p.Ser125=) c.61-6372T>A (n.61-6372T>A) c.442-6372T>A (n.442-6372T>A) | |
2 | g.233760662T>C | CA431960390 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6372T>C (n.856-6372T>C) c.868-6372T>C (n.868-6372T>C) c.862-6372T>C (n.862-6372T>C) c.375T>C (p.Ser125=) c.61-6372T>C (n.61-6372T>C) c.442-6372T>C (n.442-6372T>C) | |
2 | g.233760662T>G | CA431960392 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6372T>G (n.856-6372T>G) c.868-6372T>G (n.868-6372T>G) c.862-6372T>G (n.862-6372T>G) c.375T>G (p.Ser125=) c.61-6372T>G (n.61-6372T>G) c.442-6372T>G (n.442-6372T>G) | |
2 | g.233760663G>A | CA351066537 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6371G>A (n.856-6371G>A) c.868-6371G>A (n.868-6371G>A) c.862-6371G>A (n.862-6371G>A) c.376G>A (p.Gly126Ser) c.61-6371G>A (n.61-6371G>A) c.442-6371G>A (n.442-6371G>A) | gnomAD v4 |
2 | g.233760663G>C | CA351066538 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6371G>C (n.856-6371G>C) c.868-6371G>C (n.868-6371G>C) c.862-6371G>C (n.862-6371G>C) c.376G>C (p.Gly126Arg) c.61-6371G>C (n.61-6371G>C) c.442-6371G>C (n.442-6371G>C) | |
2 | g.233760663G>T | CA351066539 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6371G>T (n.856-6371G>T) c.868-6371G>T (n.868-6371G>T) c.862-6371G>T (n.862-6371G>T) c.376G>T (p.Gly126Cys) c.61-6371G>T (n.61-6371G>T) c.442-6371G>T (n.442-6371G>T) | |
2 | g.233760664G>A | CA351066540 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6370G>A (n.856-6370G>A) c.868-6370G>A (n.868-6370G>A) c.862-6370G>A (n.862-6370G>A) c.377G>A (p.Gly126Asp) c.61-6370G>A (n.61-6370G>A) c.442-6370G>A (n.442-6370G>A) | |
2 | g.233760664G>C | CA351066541 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6370G>C (n.856-6370G>C) c.868-6370G>C (n.868-6370G>C) c.862-6370G>C (n.862-6370G>C) c.377G>C (p.Gly126Ala) c.61-6370G>C (n.61-6370G>C) c.442-6370G>C (n.442-6370G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760664G= | CA1335889313 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6370G= (n.856-6370G=) c.868-6370G= (n.868-6370G=) c.862-6370G= (n.862-6370G=) c.377G= (p.Gly126=) c.61-6370G= (n.61-6370G=) c.442-6370G= (n.442-6370G=) | |
2 | g.233760664G>T | CA351066542 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6370G>T (n.856-6370G>T) c.868-6370G>T (n.868-6370G>T) c.862-6370G>T (n.862-6370G>T) c.377G>T (p.Gly126Val) c.61-6370G>T (n.61-6370G>T) c.442-6370G>T (n.442-6370G>T) | gnomAD v4 |
2 | g.233760665C>A | CA431960394 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6369C>A (n.856-6369C>A) c.868-6369C>A (n.868-6369C>A) c.862-6369C>A (n.862-6369C>A) c.378C>A (p.Gly126=) c.61-6369C>A (n.61-6369C>A) c.442-6369C>A (n.442-6369C>A) | |
2 | g.233760665C= | CA1335889315 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6369C= (n.856-6369C=) c.868-6369C= (n.868-6369C=) c.862-6369C= (n.862-6369C=) c.378C= (p.Gly126=) c.61-6369C= (n.61-6369C=) c.442-6369C= (n.442-6369C=) | |
2 | g.233760665C>G | CA431960393 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6369C>G (n.856-6369C>G) c.868-6369C>G (n.868-6369C>G) c.862-6369C>G (n.862-6369C>G) c.378C>G (p.Gly126=) c.61-6369C>G (n.61-6369C>G) c.442-6369C>G (n.442-6369C>G) | |
2 | g.233760665C>T | CA2179817 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6369C>T (n.856-6369C>T) c.868-6369C>T (n.868-6369C>T) c.862-6369C>T (n.862-6369C>T) c.378C>T (p.Gly126=) c.61-6369C>T (n.61-6369C>T) c.442-6369C>T (n.442-6369C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760666T>A | CA351066545 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6368T>A (n.856-6368T>A) c.868-6368T>A (n.868-6368T>A) c.862-6368T>A (n.862-6368T>A) c.379T>A (p.Cys127Ser) c.61-6368T>A (n.61-6368T>A) c.442-6368T>A (n.442-6368T>A) | |
2 | g.233760666T>C | CA351066543 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6368T>C (n.856-6368T>C) c.868-6368T>C (n.868-6368T>C) c.862-6368T>C (n.862-6368T>C) c.379T>C (p.Cys127Arg) c.61-6368T>C (n.61-6368T>C) c.442-6368T>C (n.442-6368T>C) | |
2 | g.233760666T>G | CA351066544 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6368T>G (n.856-6368T>G) c.868-6368T>G (n.868-6368T>G) c.862-6368T>G (n.862-6368T>G) c.379T>G (p.Cys127Gly) c.61-6368T>G (n.61-6368T>G) c.442-6368T>G (n.442-6368T>G) | |
2 | g.233760667G>A | CA351066546 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6367G>A (n.856-6367G>A) c.868-6367G>A (n.868-6367G>A) c.862-6367G>A (n.862-6367G>A) c.380G>A (p.Cys127Tyr) c.61-6367G>A (n.61-6367G>A) c.442-6367G>A (n.442-6367G>A) | |
2 | g.233760667G>C | CA67589862 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6367G>C (n.856-6367G>C) c.868-6367G>C (n.868-6367G>C) c.862-6367G>C (n.862-6367G>C) c.380G>C (p.Cys127Ser) c.61-6367G>C (n.61-6367G>C) c.442-6367G>C (n.442-6367G>C) | dbSNP |
2 | g.233760667G= | CA1335889317 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6367G= (n.856-6367G=) c.868-6367G= (n.868-6367G=) c.862-6367G= (n.862-6367G=) c.380G= (p.Cys127=) c.61-6367G= (n.61-6367G=) c.442-6367G= (n.442-6367G=) | |
2 | g.233760667G>T | CA351066547 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6367G>T (n.856-6367G>T) c.868-6367G>T (n.868-6367G>T) c.862-6367G>T (n.862-6367G>T) c.380G>T (p.Cys127Phe) c.61-6367G>T (n.61-6367G>T) c.442-6367G>T (n.442-6367G>T) | |
2 | g.233760667_233760668insGG | CA2499215796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6367_856-6366insGG (n.856-6367_856-6366insGG) c.868-6367_868-6366insGG (n.868-6367_868-6366insGG) c.862-6367_862-6366insGG (n.862-6367_862-6366insGG) c.380_381insGG (p.Cys127TrpfsTer24) c.61-6367_61-6366insGG (n.61-6367_61-6366insGG) c.442-6367_442-6366insGG (n.442-6367_442-6366insGG) | ClinVar dbSNP |
2 | g.233760668T>A | CA351066548 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6366T>A (n.856-6366T>A) c.868-6366T>A (n.868-6366T>A) c.862-6366T>A (n.862-6366T>A) c.381T>A (p.Cys127Ter) c.61-6366T>A (n.61-6366T>A) c.442-6366T>A (n.442-6366T>A) | |
2 | g.233760668T>C | CA431960395 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6366T>C (n.856-6366T>C) c.868-6366T>C (n.868-6366T>C) c.862-6366T>C (n.862-6366T>C) c.381T>C (p.Cys127=) c.61-6366T>C (n.61-6366T>C) c.442-6366T>C (n.442-6366T>C) | gnomAD v4 |
2 | g.233760668T>G | CA351066549 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6366T>G (n.856-6366T>G) c.868-6366T>G (n.868-6366T>G) c.862-6366T>G (n.862-6366T>G) c.381T>G (p.Cys127Trp) c.61-6366T>G (n.61-6366T>G) c.442-6366T>G (n.442-6366T>G) | |
2 | g.233760669T>A | CA351066550 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6365T>A (n.856-6365T>A) c.868-6365T>A (n.868-6365T>A) c.862-6365T>A (n.862-6365T>A) c.382T>A (p.Ser128Thr) c.61-6365T>A (n.61-6365T>A) c.442-6365T>A (n.442-6365T>A) | |
2 | g.233760669T>C | CA351066551 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6365T>C (n.856-6365T>C) c.868-6365T>C (n.868-6365T>C) c.862-6365T>C (n.862-6365T>C) c.382T>C (p.Ser128Pro) c.61-6365T>C (n.61-6365T>C) c.442-6365T>C (n.442-6365T>C) | |
2 | g.233760669T>G | CA351066552 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6365T>G (n.856-6365T>G) c.868-6365T>G (n.868-6365T>G) c.862-6365T>G (n.862-6365T>G) c.382T>G (p.Ser128Ala) c.61-6365T>G (n.61-6365T>G) c.442-6365T>G (n.442-6365T>G) | |
2 | g.233760670C>A | CA351066553 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6364C>A (n.856-6364C>A) c.868-6364C>A (n.868-6364C>A) c.862-6364C>A (n.862-6364C>A) c.383C>A (p.Ser128Tyr) c.61-6364C>A (n.61-6364C>A) c.442-6364C>A (n.442-6364C>A) | |
2 | g.233760670C>G | CA351066554 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6364C>G (n.856-6364C>G) c.868-6364C>G (n.868-6364C>G) c.862-6364C>G (n.862-6364C>G) c.383C>G (p.Ser128Cys) c.61-6364C>G (n.61-6364C>G) c.442-6364C>G (n.442-6364C>G) | |
2 | g.233760670C>T | CA351066555 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6364C>T (n.856-6364C>T) c.868-6364C>T (n.868-6364C>T) c.862-6364C>T (n.862-6364C>T) c.383C>T (p.Ser128Phe) c.61-6364C>T (n.61-6364C>T) c.442-6364C>T (n.442-6364C>T) | gnomAD v4 |
2 | g.233760671C>A | CA431960396 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6363C>A (n.856-6363C>A) c.868-6363C>A (n.868-6363C>A) c.862-6363C>A (n.862-6363C>A) c.384C>A (p.Ser128=) c.61-6363C>A (n.61-6363C>A) c.442-6363C>A (n.442-6363C>A) | |
2 | g.233760671C>G | CA431960398 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6363C>G (n.856-6363C>G) c.868-6363C>G (n.868-6363C>G) c.862-6363C>G (n.862-6363C>G) c.384C>G (p.Ser128=) c.61-6363C>G (n.61-6363C>G) c.442-6363C>G (n.442-6363C>G) | |
2 | g.233760671C>T | CA431960397 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6363C>T (n.856-6363C>T) c.868-6363C>T (n.868-6363C>T) c.862-6363C>T (n.862-6363C>T) c.384C>T (p.Ser128=) c.61-6363C>T (n.61-6363C>T) c.442-6363C>T (n.442-6363C>T) | gnomAD v4 |
2 | g.233760672C>A | CA351066558 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6362C>A (n.856-6362C>A) c.868-6362C>A (n.868-6362C>A) c.862-6362C>A (n.862-6362C>A) c.385C>A (p.His129Asn) c.61-6362C>A (n.61-6362C>A) c.442-6362C>A (n.442-6362C>A) | |
2 | g.233760672C= | CA1335889320 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6362C= (n.856-6362C=) c.868-6362C= (n.868-6362C=) c.862-6362C= (n.862-6362C=) c.385C= (p.His129=) c.61-6362C= (n.61-6362C=) c.442-6362C= (n.442-6362C=) | |
2 | g.233760672C>G | CA351066557 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6362C>G (n.856-6362C>G) c.868-6362C>G (n.868-6362C>G) c.862-6362C>G (n.862-6362C>G) c.385C>G (p.His129Asp) c.61-6362C>G (n.61-6362C>G) c.442-6362C>G (n.442-6362C>G) | |
2 | g.233760672C>T | CA351066556 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6362C>T (n.856-6362C>T) c.868-6362C>T (n.868-6362C>T) c.862-6362C>T (n.862-6362C>T) c.385C>T (p.His129Tyr) c.61-6362C>T (n.61-6362C>T) c.442-6362C>T (n.442-6362C>T) | dbSNP |
2 | g.233760673A= | CA1335889322 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6361A= (n.856-6361A=) c.868-6361A= (n.868-6361A=) c.862-6361A= (n.862-6361A=) c.386A= (p.His129=) c.61-6361A= (n.61-6361A=) c.442-6361A= (n.442-6361A=) | |
2 | g.233760673A>C | CA351066559 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6361A>C (n.856-6361A>C) c.868-6361A>C (n.868-6361A>C) c.862-6361A>C (n.862-6361A>C) c.386A>C (p.His129Pro) c.61-6361A>C (n.61-6361A>C) c.442-6361A>C (n.442-6361A>C) | |
2 | g.233760673A>G | CA351066560 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6361A>G (n.856-6361A>G) c.868-6361A>G (n.868-6361A>G) c.862-6361A>G (n.862-6361A>G) c.386A>G (p.His129Arg) c.61-6361A>G (n.61-6361A>G) c.442-6361A>G (n.442-6361A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.233760673A>T | CA351066561 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6361A>T (n.856-6361A>T) c.868-6361A>T (n.868-6361A>T) c.862-6361A>T (n.862-6361A>T) c.386A>T (p.His129Leu) c.61-6361A>T (n.61-6361A>T) c.442-6361A>T (n.442-6361A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760674C>A | CA351066562 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6360C>A (n.856-6360C>A) c.868-6360C>A (n.868-6360C>A) c.862-6360C>A (n.862-6360C>A) c.387C>A (p.His129Gln) c.61-6360C>A (n.61-6360C>A) c.442-6360C>A (n.442-6360C>A) | |
2 | g.233760674C= | CA1335889325 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6360C= (n.856-6360C=) c.868-6360C= (n.868-6360C=) c.862-6360C= (n.862-6360C=) c.387C= (p.His129=) c.61-6360C= (n.61-6360C=) c.442-6360C= (n.442-6360C=) | |
2 | g.233760674C>G | CA351066563 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6360C>G (n.856-6360C>G) c.868-6360C>G (n.868-6360C>G) c.862-6360C>G (n.862-6360C>G) c.387C>G (p.His129Gln) c.61-6360C>G (n.61-6360C>G) c.442-6360C>G (n.442-6360C>G) | ClinVar dbSNP |
2 | g.233760674C>T | CA431960399 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6360C>T (n.856-6360C>T) c.868-6360C>T (n.868-6360C>T) c.862-6360C>T (n.862-6360C>T) c.387C>T (p.His129=) c.61-6360C>T (n.61-6360C>T) c.442-6360C>T (n.442-6360C>T) | |
2 | g.233760675T>A | CA351066564 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6359T>A (n.856-6359T>A) c.868-6359T>A (n.868-6359T>A) c.862-6359T>A (n.862-6359T>A) c.388T>A (p.Leu130Ile) c.61-6359T>A (n.61-6359T>A) c.442-6359T>A (n.442-6359T>A) | |
2 | g.233760675T>C | CA431960400 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6359T>C (n.856-6359T>C) c.868-6359T>C (n.868-6359T>C) c.862-6359T>C (n.862-6359T>C) c.388T>C (p.Leu130=) c.61-6359T>C (n.61-6359T>C) c.442-6359T>C (n.442-6359T>C) | |
2 | g.233760675T>G | CA351066565 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6359T>G (n.856-6359T>G) c.868-6359T>G (n.868-6359T>G) c.862-6359T>G (n.862-6359T>G) c.388T>G (p.Leu130Val) c.61-6359T>G (n.61-6359T>G) c.442-6359T>G (n.442-6359T>G) | |
2 | g.233760676dup | CA2499215797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6358dup (n.856-6358dup) c.868-6358dup (n.868-6358dup) c.862-6358dup (n.862-6358dup) c.389dup (p.Leu130PhefsTer17) c.61-6358dup (n.61-6358dup) c.442-6358dup (n.442-6358dup) | ClinVar dbSNP |
2 | g.233760676T>A | CA351066566 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6358T>A (n.856-6358T>A) c.868-6358T>A (n.868-6358T>A) c.862-6358T>A (n.862-6358T>A) c.389T>A (p.Leu130Ter) c.61-6358T>A (n.61-6358T>A) c.442-6358T>A (n.442-6358T>A) | |
2 | g.233760676T>C | CA351066568 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6358T>C (n.856-6358T>C) c.868-6358T>C (n.868-6358T>C) c.862-6358T>C (n.862-6358T>C) c.389T>C (p.Leu130Ser) c.61-6358T>C (n.61-6358T>C) c.442-6358T>C (n.442-6358T>C) | |
2 | g.233760676T>G | CA351066567 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6358T>G (n.856-6358T>G) c.868-6358T>G (n.868-6358T>G) c.862-6358T>G (n.862-6358T>G) c.389T>G (p.Leu130Ter) c.61-6358T>G (n.61-6358T>G) c.442-6358T>G (n.442-6358T>G) | |
2 | g.233760677A= | CA1335889328 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6357A= (n.856-6357A=) c.868-6357A= (n.868-6357A=) c.862-6357A= (n.862-6357A=) c.390A= (p.Leu130=) c.61-6357A= (n.61-6357A=) c.442-6357A= (n.442-6357A=) | |
2 | g.233760677A>C | CA351066569 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6357A>C (n.856-6357A>C) c.868-6357A>C (n.868-6357A>C) c.862-6357A>C (n.862-6357A>C) c.390A>C (p.Leu130Phe) c.61-6357A>C (n.61-6357A>C) c.442-6357A>C (n.442-6357A>C) | |
2 | g.233760677A>G | CA431960401 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6357A>G (n.856-6357A>G) c.868-6357A>G (n.868-6357A>G) c.862-6357A>G (n.862-6357A>G) c.390A>G (p.Leu130=) c.61-6357A>G (n.61-6357A>G) c.442-6357A>G (n.442-6357A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760677A>T | CA2179818 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6357A>T (n.856-6357A>T) c.868-6357A>T (n.868-6357A>T) c.862-6357A>T (n.862-6357A>T) c.390A>T (p.Leu130Phe) c.61-6357A>T (n.61-6357A>T) c.442-6357A>T (n.442-6357A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760677dup | CA2577284379 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6357dup (n.856-6357dup) c.868-6357dup (n.868-6357dup) c.862-6357dup (n.862-6357dup) c.390dup (p.Leu131ThrfsTer16) c.61-6357dup (n.61-6357dup) c.442-6357dup (n.442-6357dup) | |
2 | g.233760678C>A | CA351066570 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6356C>A (n.856-6356C>A) c.868-6356C>A (n.868-6356C>A) c.862-6356C>A (n.862-6356C>A) c.391C>A (p.Leu131Met) c.61-6356C>A (n.61-6356C>A) c.442-6356C>A (n.442-6356C>A) | |
2 | g.233760678C>G | CA351066571 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6356C>G (n.856-6356C>G) c.868-6356C>G (n.868-6356C>G) c.862-6356C>G (n.862-6356C>G) c.391C>G (p.Leu131Val) c.61-6356C>G (n.61-6356C>G) c.442-6356C>G (n.442-6356C>G) | |
2 | g.233760678C>T | CA431960402 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6356C>T (n.856-6356C>T) c.868-6356C>T (n.868-6356C>T) c.862-6356C>T (n.862-6356C>T) c.391C>T (p.Leu131=) c.61-6356C>T (n.61-6356C>T) c.442-6356C>T (n.442-6356C>T) | |
2 | g.233760679T>A | CA351066572 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6355T>A (n.856-6355T>A) c.868-6355T>A (n.868-6355T>A) c.862-6355T>A (n.862-6355T>A) c.392T>A (p.Leu131Gln) c.61-6355T>A (n.61-6355T>A) c.442-6355T>A (n.442-6355T>A) | |
2 | g.233760679T>C | CA351066574 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6355T>C (n.856-6355T>C) c.868-6355T>C (n.868-6355T>C) c.862-6355T>C (n.862-6355T>C) c.392T>C (p.Leu131Pro) c.61-6355T>C (n.61-6355T>C) c.442-6355T>C (n.442-6355T>C) | |
2 | g.233760679T>G | CA351066573 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6355T>G (n.856-6355T>G) c.868-6355T>G (n.868-6355T>G) c.862-6355T>G (n.862-6355T>G) c.392T>G (p.Leu131Arg) c.61-6355T>G (n.61-6355T>G) c.442-6355T>G (n.442-6355T>G) | dbSNP |
2 | g.233760679T= | CA1335889330 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6355T= (n.856-6355T=) c.868-6355T= (n.868-6355T=) c.862-6355T= (n.862-6355T=) c.392T= (p.Leu131=) c.61-6355T= (n.61-6355T=) c.442-6355T= (n.442-6355T=) | |
2 | g.233760680G>A | CA431960405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6354G>A (n.856-6354G>A) c.868-6354G>A (n.868-6354G>A) c.862-6354G>A (n.862-6354G>A) c.393G>A (p.Leu131=) c.61-6354G>A (n.61-6354G>A) c.442-6354G>A (n.442-6354G>A) | gnomAD v4 |
2 | g.233760680G>C | CA431960404 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6354G>C (n.856-6354G>C) c.868-6354G>C (n.868-6354G>C) c.862-6354G>C (n.862-6354G>C) c.393G>C (p.Leu131=) c.61-6354G>C (n.61-6354G>C) c.442-6354G>C (n.442-6354G>C) | |
2 | g.233760680G>T | CA431960403 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6354G>T (n.856-6354G>T) c.868-6354G>T (n.868-6354G>T) c.862-6354G>T (n.862-6354G>T) c.393G>T (p.Leu131=) c.61-6354G>T (n.61-6354G>T) c.442-6354G>T (n.442-6354G>T) | |
2 | g.233760681C>A | CA2179819 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6353C>A (n.856-6353C>A) c.868-6353C>A (n.868-6353C>A) c.862-6353C>A (n.862-6353C>A) c.394C>A (p.His132Asn) c.61-6353C>A (n.61-6353C>A) c.442-6353C>A (n.442-6353C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760681C= | CA1335889334 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6353C= (n.856-6353C=) c.868-6353C= (n.868-6353C=) c.862-6353C= (n.862-6353C=) c.394C= (p.His132=) c.61-6353C= (n.61-6353C=) c.442-6353C= (n.442-6353C=) | |
2 | g.233760681C>G | CA351066575 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6353C>G (n.856-6353C>G) c.868-6353C>G (n.868-6353C>G) c.862-6353C>G (n.862-6353C>G) c.394C>G (p.His132Asp) c.61-6353C>G (n.61-6353C>G) c.442-6353C>G (n.442-6353C>G) | |
2 | g.233760681C>T | CA351066576 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6353C>T (n.856-6353C>T) c.868-6353C>T (n.868-6353C>T) c.862-6353C>T (n.862-6353C>T) c.394C>T (p.His132Tyr) c.61-6353C>T (n.61-6353C>T) c.442-6353C>T (n.442-6353C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760681_233760684delinsCACA | CA1335889333 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6353_856-6350delinsCACA (n.856-6353_856-6350delinsCACA) c.868-6353_868-6350delinsCACA (n.868-6353_868-6350delinsCACA) c.862-6353_862-6350delinsCACA (n.862-6353_862-6350delinsCACA) c.394_397delinsCACA (p.His132=) c.61-6353_61-6350delinsCACA (n.61-6353_61-6350delinsCACA) c.442-6353_442-6350delinsCACA (n.442-6353_442-6350delinsCACA) | |
2 | g.233760682A>C | CA351066577 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6352A>C (n.856-6352A>C) c.868-6352A>C (n.868-6352A>C) c.862-6352A>C (n.862-6352A>C) c.395A>C (p.His132Pro) c.61-6352A>C (n.61-6352A>C) c.442-6352A>C (n.442-6352A>C) | |
2 | g.233760682A>G | CA351066578 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6352A>G (n.856-6352A>G) c.868-6352A>G (n.868-6352A>G) c.862-6352A>G (n.862-6352A>G) c.395A>G (p.His132Arg) c.61-6352A>G (n.61-6352A>G) c.442-6352A>G (n.442-6352A>G) | ClinVar gnomAD v4 |
2 | g.233760682A>T | CA351066579 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6352A>T (n.856-6352A>T) c.868-6352A>T (n.868-6352A>T) c.862-6352A>T (n.862-6352A>T) c.395A>T (p.His132Leu) c.61-6352A>T (n.61-6352A>T) c.442-6352A>T (n.442-6352A>T) | |
2 | g.233760686_233760688del | CA1043554810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6348_856-6346del (n.856-6348_856-6346del) c.868-6348_868-6346del (n.868-6348_868-6346del) c.862-6348_862-6346del (n.862-6348_862-6346del) c.399_401del (p.Asn133del) c.61-6348_61-6346del (n.61-6348_61-6346del) c.442-6348_442-6346del (n.442-6348_442-6346del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760683_233760688del | CA2580066074 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6351_856-6346del (n.856-6351_856-6346del) c.868-6351_868-6346del (n.868-6351_868-6346del) c.862-6351_862-6346del (n.862-6351_862-6346del) c.396_401del (p.His132_Lys134delinsGln) c.61-6351_61-6346del (n.61-6351_61-6346del) c.442-6351_442-6346del (n.442-6351_442-6346del) | ClinVar |
2 | g.233760683C>A | CA351066580 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6351C>A (n.856-6351C>A) c.868-6351C>A (n.868-6351C>A) c.862-6351C>A (n.862-6351C>A) c.396C>A (p.His132Gln) c.61-6351C>A (n.61-6351C>A) c.442-6351C>A (n.442-6351C>A) | |
2 | g.233760683C>G | CA351066581 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6351C>G (n.856-6351C>G) c.868-6351C>G (n.868-6351C>G) c.862-6351C>G (n.862-6351C>G) c.396C>G (p.His132Gln) c.61-6351C>G (n.61-6351C>G) c.442-6351C>G (n.442-6351C>G) | gnomAD v4 |
2 | g.233760683C>T | CA431960406 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6351C>T (n.856-6351C>T) c.868-6351C>T (n.868-6351C>T) c.862-6351C>T (n.862-6351C>T) c.396C>T (p.His132=) c.61-6351C>T (n.61-6351C>T) c.442-6351C>T (n.442-6351C>T) | |
2 | g.233760684A>C | CA351066582 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6350A>C (n.856-6350A>C) c.868-6350A>C (n.868-6350A>C) c.862-6350A>C (n.862-6350A>C) c.397A>C (p.Asn133His) c.61-6350A>C (n.61-6350A>C) c.442-6350A>C (n.442-6350A>C) | |
2 | g.233760684A>G | CA351066583 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6350A>G (n.856-6350A>G) c.868-6350A>G (n.868-6350A>G) c.862-6350A>G (n.862-6350A>G) c.397A>G (p.Asn133Asp) c.61-6350A>G (n.61-6350A>G) c.442-6350A>G (n.442-6350A>G) | gnomAD v4 |
2 | g.233760684A>T | CA351066584 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6350A>T (n.856-6350A>T) c.868-6350A>T (n.868-6350A>T) c.862-6350A>T (n.862-6350A>T) c.397A>T (p.Asn133Tyr) c.61-6350A>T (n.61-6350A>T) c.442-6350A>T (n.442-6350A>T) | |
2 | g.233760685A= | CA1335889337 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6349A= (n.856-6349A=) c.868-6349A= (n.868-6349A=) c.862-6349A= (n.862-6349A=) c.398A= (p.Asn133=) c.61-6349A= (n.61-6349A=) c.442-6349A= (n.442-6349A=) | |
2 | g.233760685A>C | CA351066585 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6349A>C (n.856-6349A>C) c.868-6349A>C (n.868-6349A>C) c.862-6349A>C (n.862-6349A>C) c.398A>C (p.Asn133Thr) c.61-6349A>C (n.61-6349A>C) c.442-6349A>C (n.442-6349A>C) | |
2 | g.233760685A>G | CA2179820 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6349A>G (n.856-6349A>G) c.868-6349A>G (n.868-6349A>G) c.862-6349A>G (n.862-6349A>G) c.398A>G (p.Asn133Ser) c.61-6349A>G (n.61-6349A>G) c.442-6349A>G (n.442-6349A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760685A>T | CA351066586 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6349A>T (n.856-6349A>T) c.868-6349A>T (n.868-6349A>T) c.862-6349A>T (n.862-6349A>T) c.398A>T (p.Asn133Ile) c.61-6349A>T (n.61-6349A>T) c.442-6349A>T (n.442-6349A>T) | |
2 | g.233760686C>A | CA351066587 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6348C>A (n.856-6348C>A) c.868-6348C>A (n.868-6348C>A) c.862-6348C>A (n.862-6348C>A) c.399C>A (p.Asn133Lys) c.61-6348C>A (n.61-6348C>A) c.442-6348C>A (n.442-6348C>A) | |
2 | g.233760686C= | CA1335889340 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6348C= (n.856-6348C=) c.868-6348C= (n.868-6348C=) c.862-6348C= (n.862-6348C=) c.399C= (p.Asn133=) c.61-6348C= (n.61-6348C=) c.442-6348C= (n.442-6348C=) | |
2 | g.233760686C>G | CA351066588 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6348C>G (n.856-6348C>G) c.868-6348C>G (n.868-6348C>G) c.862-6348C>G (n.862-6348C>G) c.399C>G (p.Asn133Lys) c.61-6348C>G (n.61-6348C>G) c.442-6348C>G (n.442-6348C>G) | ClinVar dbSNP gnomAD v4 |
2 | g.233760686C>T | CA431960407 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6348C>T (n.856-6348C>T) c.868-6348C>T (n.868-6348C>T) c.862-6348C>T (n.862-6348C>T) c.399C>T (p.Asn133=) c.61-6348C>T (n.61-6348C>T) c.442-6348C>T (n.442-6348C>T) | gnomAD v4 |
2 | g.233760687A>C | CA351066589 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6347A>C (n.856-6347A>C) c.868-6347A>C (n.868-6347A>C) c.862-6347A>C (n.862-6347A>C) c.400A>C (p.Lys134Gln) c.61-6347A>C (n.61-6347A>C) c.442-6347A>C (n.442-6347A>C) | gnomAD v4 |
2 | g.233760687A>G | CA351066591 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6347A>G (n.856-6347A>G) c.868-6347A>G (n.868-6347A>G) c.862-6347A>G (n.862-6347A>G) c.400A>G (p.Lys134Glu) c.61-6347A>G (n.61-6347A>G) c.442-6347A>G (n.442-6347A>G) | |
2 | g.233760687A>T | CA351066590 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6347A>T (n.856-6347A>T) c.868-6347A>T (n.868-6347A>T) c.862-6347A>T (n.862-6347A>T) c.400A>T (p.Lys134Ter) c.61-6347A>T (n.61-6347A>T) c.442-6347A>T (n.442-6347A>T) | |
2 | g.233760688A>C | CA351066592 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6346A>C (n.856-6346A>C) c.868-6346A>C (n.868-6346A>C) c.862-6346A>C (n.862-6346A>C) c.401A>C (p.Lys134Thr) c.61-6346A>C (n.61-6346A>C) c.442-6346A>C (n.442-6346A>C) | |
2 | g.233760688A>G | CA351066594 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6346A>G (n.856-6346A>G) c.868-6346A>G (n.868-6346A>G) c.862-6346A>G (n.862-6346A>G) c.401A>G (p.Lys134Arg) c.61-6346A>G (n.61-6346A>G) c.442-6346A>G (n.442-6346A>G) | |
2 | g.233760688A>T | CA351066593 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6346A>T (n.856-6346A>T) c.868-6346A>T (n.868-6346A>T) c.862-6346A>T (n.862-6346A>T) c.401A>T (p.Lys134Met) c.61-6346A>T (n.61-6346A>T) c.442-6346A>T (n.442-6346A>T) | |
2 | g.233760689G>A | CA431960408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6345G>A (n.856-6345G>A) c.868-6345G>A (n.868-6345G>A) c.862-6345G>A (n.862-6345G>A) c.402G>A (p.Lys134=) c.61-6345G>A (n.61-6345G>A) c.442-6345G>A (n.442-6345G>A) | |
2 | g.233760689G>C | CA351066595 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6345G>C (n.856-6345G>C) c.868-6345G>C (n.868-6345G>C) c.862-6345G>C (n.862-6345G>C) c.402G>C (p.Lys134Asn) c.61-6345G>C (n.61-6345G>C) c.442-6345G>C (n.442-6345G>C) | |
2 | g.233760689G>T | CA351066596 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6345G>T (n.856-6345G>T) c.868-6345G>T (n.868-6345G>T) c.862-6345G>T (n.862-6345G>T) c.402G>T (p.Lys134Asn) c.61-6345G>T (n.61-6345G>T) c.442-6345G>T (n.442-6345G>T) | |
2 | g.233760690G>A | CA351066597 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6344G>A (n.856-6344G>A) c.868-6344G>A (n.868-6344G>A) c.862-6344G>A (n.862-6344G>A) c.403G>A (p.Glu135Lys) c.61-6344G>A (n.61-6344G>A) c.442-6344G>A (n.442-6344G>A) | |
2 | g.233760690G>C | CA351066599 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6344G>C (n.856-6344G>C) c.868-6344G>C (n.868-6344G>C) c.862-6344G>C (n.862-6344G>C) c.403G>C (p.Glu135Gln) c.61-6344G>C (n.61-6344G>C) c.442-6344G>C (n.442-6344G>C) | |
2 | g.233760690G>T | CA351066598 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6344G>T (n.856-6344G>T) c.868-6344G>T (n.868-6344G>T) c.862-6344G>T (n.862-6344G>T) c.403G>T (p.Glu135Ter) c.61-6344G>T (n.61-6344G>T) c.442-6344G>T (n.442-6344G>T) | |
2 | g.233760691A>C | CA351066600 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6343A>C (n.856-6343A>C) c.868-6343A>C (n.868-6343A>C) c.862-6343A>C (n.862-6343A>C) c.404A>C (p.Glu135Ala) c.61-6343A>C (n.61-6343A>C) c.442-6343A>C (n.442-6343A>C) | |
2 | g.233760691A>G | CA351066602 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6343A>G (n.856-6343A>G) c.868-6343A>G (n.868-6343A>G) c.862-6343A>G (n.862-6343A>G) c.404A>G (p.Glu135Gly) c.61-6343A>G (n.61-6343A>G) c.442-6343A>G (n.442-6343A>G) | |
2 | g.233760691A>T | CA351066601 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6343A>T (n.856-6343A>T) c.868-6343A>T (n.868-6343A>T) c.862-6343A>T (n.862-6343A>T) c.404A>T (p.Glu135Val) c.61-6343A>T (n.61-6343A>T) c.442-6343A>T (n.442-6343A>T) | |
2 | g.233760692G>A | CA2179821 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6342G>A (n.856-6342G>A) c.868-6342G>A (n.868-6342G>A) c.862-6342G>A (n.862-6342G>A) c.405G>A (p.Glu135=) c.61-6342G>A (n.61-6342G>A) c.442-6342G>A (n.442-6342G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760692G>C | CA351066604 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6342G>C (n.856-6342G>C) c.868-6342G>C (n.868-6342G>C) c.862-6342G>C (n.862-6342G>C) c.405G>C (p.Glu135Asp) c.61-6342G>C (n.61-6342G>C) c.442-6342G>C (n.442-6342G>C) | |
2 | g.233760692G= | CA1335889343 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6342G= (n.856-6342G=) c.868-6342G= (n.868-6342G=) c.862-6342G= (n.862-6342G=) c.405G= (p.Glu135=) c.61-6342G= (n.61-6342G=) c.442-6342G= (n.442-6342G=) | |
2 | g.233760692G>T | CA351066603 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6342G>T (n.856-6342G>T) c.868-6342G>T (n.868-6342G>T) c.862-6342G>T (n.862-6342G>T) c.405G>T (p.Glu135Asp) c.61-6342G>T (n.61-6342G>T) c.442-6342G>T (n.442-6342G>T) | |
2 | g.233760693C>A | CA351066605 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6341C>A (n.856-6341C>A) c.868-6341C>A (n.868-6341C>A) c.862-6341C>A (n.862-6341C>A) c.406C>A (p.Leu136Ile) c.61-6341C>A (n.61-6341C>A) c.442-6341C>A (n.442-6341C>A) | |
2 | g.233760693C= | CA1335889345 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6341C= (n.856-6341C=) c.868-6341C= (n.868-6341C=) c.862-6341C= (n.862-6341C=) c.406C= (p.Leu136=) c.61-6341C= (n.61-6341C=) c.442-6341C= (n.442-6341C=) | |
2 | g.233760693C>G | CA351066607 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6341C>G (n.856-6341C>G) c.868-6341C>G (n.868-6341C>G) c.862-6341C>G (n.862-6341C>G) c.406C>G (p.Leu136Val) c.61-6341C>G (n.61-6341C>G) c.442-6341C>G (n.442-6341C>G) | COSMIC |
2 | g.233760693C>T | CA351066606 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6341C>T (n.856-6341C>T) c.868-6341C>T (n.868-6341C>T) c.862-6341C>T (n.862-6341C>T) c.406C>T (p.Leu136Phe) c.61-6341C>T (n.61-6341C>T) c.442-6341C>T (n.442-6341C>T) | dbSNP gnomAD v4 |
2 | g.233760694T>A | CA351066608 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6340T>A (n.856-6340T>A) c.868-6340T>A (n.868-6340T>A) c.862-6340T>A (n.862-6340T>A) c.407T>A (p.Leu136His) c.61-6340T>A (n.61-6340T>A) c.442-6340T>A (n.442-6340T>A) | |
2 | g.233760694T>C | CA351066610 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6340T>C (n.856-6340T>C) c.868-6340T>C (n.868-6340T>C) c.862-6340T>C (n.862-6340T>C) c.407T>C (p.Leu136Pro) c.61-6340T>C (n.61-6340T>C) c.442-6340T>C (n.442-6340T>C) | |
2 | g.233760694T>G | CA351066609 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6340T>G (n.856-6340T>G) c.868-6340T>G (n.868-6340T>G) c.862-6340T>G (n.862-6340T>G) c.407T>G (p.Leu136Arg) c.61-6340T>G (n.61-6340T>G) c.442-6340T>G (n.442-6340T>G) | |
2 | g.233760695C>A | CA431960409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6339C>A (n.856-6339C>A) c.868-6339C>A (n.868-6339C>A) c.862-6339C>A (n.862-6339C>A) c.408C>A (p.Leu136=) c.61-6339C>A (n.61-6339C>A) c.442-6339C>A (n.442-6339C>A) | |
2 | g.233760695C>G | CA431960410 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6339C>G (n.856-6339C>G) c.868-6339C>G (n.868-6339C>G) c.862-6339C>G (n.862-6339C>G) c.408C>G (p.Leu136=) c.61-6339C>G (n.61-6339C>G) c.442-6339C>G (n.442-6339C>G) | |
2 | g.233760695C>T | CA431960411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6339C>T (n.856-6339C>T) c.868-6339C>T (n.868-6339C>T) c.862-6339C>T (n.862-6339C>T) c.408C>T (p.Leu136=) c.61-6339C>T (n.61-6339C>T) c.442-6339C>T (n.442-6339C>T) | gnomAD v4 |
2 | g.233760696A= | CA1335889347 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6338A= (n.856-6338A=) c.868-6338A= (n.868-6338A=) c.862-6338A= (n.862-6338A=) c.409A= (p.Met137=) c.61-6338A= (n.61-6338A=) c.442-6338A= (n.442-6338A=) | |
2 | g.233760696A>C | CA351066611 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6338A>C (n.856-6338A>C) c.868-6338A>C (n.868-6338A>C) c.862-6338A>C (n.862-6338A>C) c.409A>C (p.Met137Leu) c.61-6338A>C (n.61-6338A>C) c.442-6338A>C (n.442-6338A>C) | dbSNP gnomAD v4 |
2 | g.233760696A>G | CA351066613 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6338A>G (n.856-6338A>G) c.868-6338A>G (n.868-6338A>G) c.862-6338A>G (n.862-6338A>G) c.409A>G (p.Met137Val) c.61-6338A>G (n.61-6338A>G) c.442-6338A>G (n.442-6338A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760696A>T | CA351066612 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6338A>T (n.856-6338A>T) c.868-6338A>T (n.868-6338A>T) c.862-6338A>T (n.862-6338A>T) c.409A>T (p.Met137Leu) c.61-6338A>T (n.61-6338A>T) c.442-6338A>T (n.442-6338A>T) | |
2 | g.233760697T>A | CA351066614 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6337T>A (n.856-6337T>A) c.868-6337T>A (n.868-6337T>A) c.862-6337T>A (n.862-6337T>A) c.410T>A (p.Met137Lys) c.61-6337T>A (n.61-6337T>A) c.442-6337T>A (n.442-6337T>A) | |
2 | g.233760697T>C | CA351066615 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6337T>C (n.856-6337T>C) c.868-6337T>C (n.868-6337T>C) c.862-6337T>C (n.862-6337T>C) c.410T>C (p.Met137Thr) c.61-6337T>C (n.61-6337T>C) c.442-6337T>C (n.442-6337T>C) | dbSNP gnomAD v4 |
2 | g.233760697T>G | CA351066616 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6337T>G (n.856-6337T>G) c.868-6337T>G (n.868-6337T>G) c.862-6337T>G (n.862-6337T>G) c.410T>G (p.Met137Arg) c.61-6337T>G (n.61-6337T>G) c.442-6337T>G (n.442-6337T>G) | |
2 | g.233760697T= | CA1335889349 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6337T= (n.856-6337T=) c.868-6337T= (n.868-6337T=) c.862-6337T= (n.862-6337T=) c.410T= (p.Met137=) c.61-6337T= (n.61-6337T=) c.442-6337T= (n.442-6337T=) | |
2 | g.233760698G>A | CA351066617 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6336G>A (n.856-6336G>A) c.868-6336G>A (n.868-6336G>A) c.862-6336G>A (n.862-6336G>A) c.411G>A (p.Met137Ile) c.61-6336G>A (n.61-6336G>A) c.442-6336G>A (n.442-6336G>A) | |
2 | g.233760698G>C | CA351066618 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6336G>C (n.856-6336G>C) c.868-6336G>C (n.868-6336G>C) c.862-6336G>C (n.862-6336G>C) c.411G>C (p.Met137Ile) c.61-6336G>C (n.61-6336G>C) c.442-6336G>C (n.442-6336G>C) | |
2 | g.233760698G>T | CA351066619 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6336G>T (n.856-6336G>T) c.868-6336G>T (n.868-6336G>T) c.862-6336G>T (n.862-6336G>T) c.411G>T (p.Met137Ile) c.61-6336G>T (n.61-6336G>T) c.442-6336G>T (n.442-6336G>T) | |
2 | g.233760699G>A | CA351066620 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6335G>A (n.856-6335G>A) c.868-6335G>A (n.868-6335G>A) c.862-6335G>A (n.862-6335G>A) c.412G>A (p.Ala138Thr) c.61-6335G>A (n.61-6335G>A) c.442-6335G>A (n.442-6335G>A) | |
2 | g.233760699G>C | CA351066621 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6335G>C (n.856-6335G>C) c.868-6335G>C (n.868-6335G>C) c.862-6335G>C (n.862-6335G>C) c.412G>C (p.Ala138Pro) c.61-6335G>C (n.61-6335G>C) c.442-6335G>C (n.442-6335G>C) | |
2 | g.233760699G>T | CA351066622 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6335G>T (n.856-6335G>T) c.868-6335G>T (n.868-6335G>T) c.862-6335G>T (n.862-6335G>T) c.412G>T (p.Ala138Ser) c.61-6335G>T (n.61-6335G>T) c.442-6335G>T (n.442-6335G>T) | |
2 | g.233760700C>A | CA351066623 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6334C>A (n.856-6334C>A) c.868-6334C>A (n.868-6334C>A) c.862-6334C>A (n.862-6334C>A) c.413C>A (p.Ala138Asp) c.61-6334C>A (n.61-6334C>A) c.442-6334C>A (n.442-6334C>A) | |
2 | g.233760700C>G | CA351066624 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6334C>G (n.856-6334C>G) c.868-6334C>G (n.868-6334C>G) c.862-6334C>G (n.862-6334C>G) c.413C>G (p.Ala138Gly) c.61-6334C>G (n.61-6334C>G) c.442-6334C>G (n.442-6334C>G) | |
2 | g.233760700C>T | CA351066625 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6334C>T (n.856-6334C>T) c.868-6334C>T (n.868-6334C>T) c.862-6334C>T (n.862-6334C>T) c.413C>T (p.Ala138Val) c.61-6334C>T (n.61-6334C>T) c.442-6334C>T (n.442-6334C>T) | gnomAD v4 |
2 | g.233760701C>A | CA431960412 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6333C>A (n.856-6333C>A) c.868-6333C>A (n.868-6333C>A) c.862-6333C>A (n.862-6333C>A) c.414C>A (p.Ala138=) c.61-6333C>A (n.61-6333C>A) c.442-6333C>A (n.442-6333C>A) | |
2 | g.233760701C= | CA1335889353 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6333C= (n.856-6333C=) c.868-6333C= (n.868-6333C=) c.862-6333C= (n.862-6333C=) c.414C= (p.Ala138=) c.61-6333C= (n.61-6333C=) c.442-6333C= (n.442-6333C=) | |
2 | g.233760701C>G | CA2179822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6333C>G (n.856-6333C>G) c.868-6333C>G (n.868-6333C>G) c.862-6333C>G (n.862-6333C>G) c.414C>G (p.Ala138=) c.61-6333C>G (n.61-6333C>G) c.442-6333C>G (n.442-6333C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760701C>T | CA431960413 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6333C>T (n.856-6333C>T) c.868-6333C>T (n.868-6333C>T) c.862-6333C>T (n.862-6333C>T) c.414C>T (p.Ala138=) c.61-6333C>T (n.61-6333C>T) c.442-6333C>T (n.442-6333C>T) | dbSNP gnomAD v2 gnomAD v4 |