Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.233760702T>A | CA351066626 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6332T>A (n.856-6332T>A) c.868-6332T>A (n.868-6332T>A) c.862-6332T>A (n.862-6332T>A) c.415T>A (p.Ser139Thr) c.61-6332T>A (n.61-6332T>A) c.442-6332T>A (n.442-6332T>A) | |
2 | g.233760702T>C | CA351066627 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6332T>C (n.856-6332T>C) c.868-6332T>C (n.868-6332T>C) c.862-6332T>C (n.862-6332T>C) c.415T>C (p.Ser139Pro) c.61-6332T>C (n.61-6332T>C) c.442-6332T>C (n.442-6332T>C) | |
2 | g.233760702T>G | CA351066628 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6332T>G (n.856-6332T>G) c.868-6332T>G (n.868-6332T>G) c.862-6332T>G (n.862-6332T>G) c.415T>G (p.Ser139Ala) c.61-6332T>G (n.61-6332T>G) c.442-6332T>G (n.442-6332T>G) | |
2 | g.233760703C>A | CA351066629 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6331C>A (n.856-6331C>A) c.868-6331C>A (n.868-6331C>A) c.862-6331C>A (n.862-6331C>A) c.416C>A (p.Ser139Tyr) c.61-6331C>A (n.61-6331C>A) c.442-6331C>A (n.442-6331C>A) | |
2 | g.233760703C>G | CA351066630 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6331C>G (n.856-6331C>G) c.868-6331C>G (n.868-6331C>G) c.862-6331C>G (n.862-6331C>G) c.416C>G (p.Ser139Cys) c.61-6331C>G (n.61-6331C>G) c.442-6331C>G (n.442-6331C>G) | |
2 | g.233760703C>T | CA351066631 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6331C>T (n.856-6331C>T) c.868-6331C>T (n.868-6331C>T) c.862-6331C>T (n.862-6331C>T) c.416C>T (p.Ser139Phe) c.61-6331C>T (n.61-6331C>T) c.442-6331C>T (n.442-6331C>T) | gnomAD v4 |
2 | g.233760705del | CA2582342832 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329del (n.856-6329del) c.868-6329del (n.868-6329del) c.862-6329del (n.862-6329del) c.418del (p.Leu140TrpfsTer10) c.61-6329del (n.61-6329del) c.442-6329del (n.442-6329del) | ClinVar |
2 | g.233760704C>A | CA431960416 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6330C>A (n.856-6330C>A) c.868-6330C>A (n.868-6330C>A) c.862-6330C>A (n.862-6330C>A) c.417C>A (p.Ser139=) c.61-6330C>A (n.61-6330C>A) c.442-6330C>A (n.442-6330C>A) | |
2 | g.233760704C>G | CA431960415 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6330C>G (n.856-6330C>G) c.868-6330C>G (n.868-6330C>G) c.862-6330C>G (n.862-6330C>G) c.417C>G (p.Ser139=) c.61-6330C>G (n.61-6330C>G) c.442-6330C>G (n.442-6330C>G) | |
2 | g.233760704C>T | CA431960414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6330C>T (n.856-6330C>T) c.868-6330C>T (n.868-6330C>T) c.862-6330C>T (n.862-6330C>T) c.417C>T (p.Ser139=) c.61-6330C>T (n.61-6330C>T) c.442-6330C>T (n.442-6330C>T) | |
2 | g.233760705C>A | CA351066632 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329C>A (n.856-6329C>A) c.868-6329C>A (n.868-6329C>A) c.862-6329C>A (n.862-6329C>A) c.418C>A (p.Leu140Met) c.61-6329C>A (n.61-6329C>A) c.442-6329C>A (n.442-6329C>A) | |
2 | g.233760705C>G | CA351066633 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329C>G (n.856-6329C>G) c.868-6329C>G (n.868-6329C>G) c.862-6329C>G (n.862-6329C>G) c.418C>G (p.Leu140Val) c.61-6329C>G (n.61-6329C>G) c.442-6329C>G (n.442-6329C>G) | |
2 | g.233760705C>T | CA431960417 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329C>T (n.856-6329C>T) c.868-6329C>T (n.868-6329C>T) c.862-6329C>T (n.862-6329C>T) c.418C>T (p.Leu140=) c.61-6329C>T (n.61-6329C>T) c.442-6329C>T (n.442-6329C>T) | gnomAD v4 |
2 | g.233760706T>A | CA351066634 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T>A (n.856-6328T>A) c.868-6328T>A (n.868-6328T>A) c.862-6328T>A (n.862-6328T>A) c.419T>A (p.Leu140Gln) c.61-6328T>A (n.61-6328T>A) c.442-6328T>A (n.442-6328T>A) | |
2 | g.233760706T>C | CA351066635 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T>C (n.856-6328T>C) c.868-6328T>C (n.868-6328T>C) c.862-6328T>C (n.862-6328T>C) c.419T>C (p.Leu140Pro) c.61-6328T>C (n.61-6328T>C) c.442-6328T>C (n.442-6328T>C) | |
2 | g.233760706T>G | CA351066636 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T>G (n.856-6328T>G) c.868-6328T>G (n.868-6328T>G) c.862-6328T>G (n.862-6328T>G) c.419T>G (p.Leu140Arg) c.61-6328T>G (n.61-6328T>G) c.442-6328T>G (n.442-6328T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760706T= | CA1335889354 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T= (n.856-6328T=) c.868-6328T= (n.868-6328T=) c.862-6328T= (n.862-6328T=) c.419T= (p.Leu140=) c.61-6328T= (n.61-6328T=) c.442-6328T= (n.442-6328T=) | |
2 | g.233760707G>A | CA67589934 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G>A (n.856-6327G>A) c.868-6327G>A (n.868-6327G>A) c.862-6327G>A (n.862-6327G>A) c.420G>A (p.Leu140=) c.61-6327G>A (n.61-6327G>A) c.442-6327G>A (n.442-6327G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760707G>C | CA431960419 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G>C (n.856-6327G>C) c.868-6327G>C (n.868-6327G>C) c.862-6327G>C (n.862-6327G>C) c.420G>C (p.Leu140=) c.61-6327G>C (n.61-6327G>C) c.442-6327G>C (n.442-6327G>C) | |
2 | g.233760707G= | CA1335889356 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G= (n.856-6327G=) c.868-6327G= (n.868-6327G=) c.862-6327G= (n.862-6327G=) c.420G= (p.Leu140=) c.61-6327G= (n.61-6327G=) c.442-6327G= (n.442-6327G=) | |
2 | g.233760707G>T | CA431960418 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G>T (n.856-6327G>T) c.868-6327G>T (n.868-6327G>T) c.862-6327G>T (n.862-6327G>T) c.420G>T (p.Leu140=) c.61-6327G>T (n.61-6327G>T) c.442-6327G>T (n.442-6327G>T) | |
2 | g.233760708G>A | CA351066637 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6326G>A (n.856-6326G>A) c.868-6326G>A (n.868-6326G>A) c.862-6326G>A (n.862-6326G>A) c.421G>A (p.Ala141Thr) c.61-6326G>A (n.61-6326G>A) c.442-6326G>A (n.442-6326G>A) | gnomAD v4 |
2 | g.233760708G>C | CA351066638 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6326G>C (n.856-6326G>C) c.868-6326G>C (n.868-6326G>C) c.862-6326G>C (n.862-6326G>C) c.421G>C (p.Ala141Pro) c.61-6326G>C (n.61-6326G>C) c.442-6326G>C (n.442-6326G>C) | |
2 | g.233760708G>T | CA351066639 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6326G>T (n.856-6326G>T) c.868-6326G>T (n.868-6326G>T) c.862-6326G>T (n.862-6326G>T) c.421G>T (p.Ala141Ser) c.61-6326G>T (n.61-6326G>T) c.442-6326G>T (n.442-6326G>T) | |
2 | g.233760709C>A | CA2179823 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C>A (n.856-6325C>A) c.868-6325C>A (n.868-6325C>A) c.862-6325C>A (n.862-6325C>A) c.422C>A (p.Ala141Glu) c.61-6325C>A (n.61-6325C>A) c.442-6325C>A (n.442-6325C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760709C= | CA1335889359 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C= (n.856-6325C=) c.868-6325C= (n.868-6325C=) c.862-6325C= (n.862-6325C=) c.422C= (p.Ala141=) c.61-6325C= (n.61-6325C=) c.442-6325C= (n.442-6325C=) | |
2 | g.233760709C>G | CA351066641 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C>G (n.856-6325C>G) c.868-6325C>G (n.868-6325C>G) c.862-6325C>G (n.862-6325C>G) c.422C>G (p.Ala141Gly) c.61-6325C>G (n.61-6325C>G) c.442-6325C>G (n.442-6325C>G) | |
2 | g.233760709C>T | CA351066640 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C>T (n.856-6325C>T) c.868-6325C>T (n.868-6325C>T) c.862-6325C>T (n.862-6325C>T) c.422C>T (p.Ala141Val) c.61-6325C>T (n.61-6325C>T) c.442-6325C>T (n.442-6325C>T) | |
2 | g.233760710A>C | CA431960420 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6324A>C (n.856-6324A>C) c.868-6324A>C (n.868-6324A>C) c.862-6324A>C (n.862-6324A>C) c.423A>C (p.Ala141=) c.61-6324A>C (n.61-6324A>C) c.442-6324A>C (n.442-6324A>C) | |
2 | g.233760710A>G | CA431960422 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6324A>G (n.856-6324A>G) c.868-6324A>G (n.868-6324A>G) c.862-6324A>G (n.862-6324A>G) c.423A>G (p.Ala141=) c.61-6324A>G (n.61-6324A>G) c.442-6324A>G (n.442-6324A>G) | |
2 | g.233760710A>T | CA431960421 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6324A>T (n.856-6324A>T) c.868-6324A>T (n.868-6324A>T) c.862-6324A>T (n.862-6324A>T) c.423A>T (p.Ala141=) c.61-6324A>T (n.61-6324A>T) c.442-6324A>T (n.442-6324A>T) | |
2 | g.233760711G>A | CA351066642 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6323G>A (n.856-6323G>A) c.868-6323G>A (n.868-6323G>A) c.862-6323G>A (n.862-6323G>A) c.424G>A (p.Glu142Lys) c.61-6323G>A (n.61-6323G>A) c.442-6323G>A (n.442-6323G>A) | |
2 | g.233760711G>C | CA351066643 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6323G>C (n.856-6323G>C) c.868-6323G>C (n.868-6323G>C) c.862-6323G>C (n.862-6323G>C) c.424G>C (p.Glu142Gln) c.61-6323G>C (n.61-6323G>C) c.442-6323G>C (n.442-6323G>C) | |
2 | g.233760711G>T | CA351066644 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6323G>T (n.856-6323G>T) c.868-6323G>T (n.868-6323G>T) c.862-6323G>T (n.862-6323G>T) c.424G>T (p.Glu142Ter) c.61-6323G>T (n.61-6323G>T) c.442-6323G>T (n.442-6323G>T) | |
2 | g.233760712A>C | CA351066645 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6322A>C (n.856-6322A>C) c.868-6322A>C (n.868-6322A>C) c.862-6322A>C (n.862-6322A>C) c.425A>C (p.Glu142Ala) c.61-6322A>C (n.61-6322A>C) c.442-6322A>C (n.442-6322A>C) | |
2 | g.233760712A>G | CA351066646 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6322A>G (n.856-6322A>G) c.868-6322A>G (n.868-6322A>G) c.862-6322A>G (n.862-6322A>G) c.425A>G (p.Glu142Gly) c.61-6322A>G (n.61-6322A>G) c.442-6322A>G (n.442-6322A>G) | |
2 | g.233760712A>T | CA351066647 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6322A>T (n.856-6322A>T) c.868-6322A>T (n.868-6322A>T) c.862-6322A>T (n.862-6322A>T) c.425A>T (p.Glu142Val) c.61-6322A>T (n.61-6322A>T) c.442-6322A>T (n.442-6322A>T) | |
2 | g.233760713A= | CA1335889362 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A= (n.856-6321A=) c.868-6321A= (n.868-6321A=) c.862-6321A= (n.862-6321A=) c.426A= (p.Glu142=) c.61-6321A= (n.61-6321A=) c.442-6321A= (n.442-6321A=) | |
2 | g.233760713A>C | CA351066648 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A>C (n.856-6321A>C) c.868-6321A>C (n.868-6321A>C) c.862-6321A>C (n.862-6321A>C) c.426A>C (p.Glu142Asp) c.61-6321A>C (n.61-6321A>C) c.442-6321A>C (n.442-6321A>C) | |
2 | g.233760713A>G | CA431960423 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A>G (n.856-6321A>G) c.868-6321A>G (n.868-6321A>G) c.862-6321A>G (n.862-6321A>G) c.426A>G (p.Glu142=) c.61-6321A>G (n.61-6321A>G) c.442-6321A>G (n.442-6321A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760713A>T | CA351066649 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A>T (n.856-6321A>T) c.868-6321A>T (n.868-6321A>T) c.862-6321A>T (n.862-6321A>T) c.426A>T (p.Glu142Asp) c.61-6321A>T (n.61-6321A>T) c.442-6321A>T (n.442-6321A>T) | |
2 | g.233760714A>C | CA351066650 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6320A>C (n.856-6320A>C) c.868-6320A>C (n.868-6320A>C) c.862-6320A>C (n.862-6320A>C) c.427A>C (p.Ser143Arg) c.61-6320A>C (n.61-6320A>C) c.442-6320A>C (n.442-6320A>C) | |
2 | g.233760714A>G | CA351066651 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6320A>G (n.856-6320A>G) c.868-6320A>G (n.868-6320A>G) c.862-6320A>G (n.862-6320A>G) c.427A>G (p.Ser143Gly) c.61-6320A>G (n.61-6320A>G) c.442-6320A>G (n.442-6320A>G) | gnomAD v4 |
2 | g.233760714A>T | CA351066652 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6320A>T (n.856-6320A>T) c.868-6320A>T (n.868-6320A>T) c.862-6320A>T (n.862-6320A>T) c.427A>T (p.Ser143Cys) c.61-6320A>T (n.61-6320A>T) c.442-6320A>T (n.442-6320A>T) | |
2 | g.233760715G>A | CA351066653 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G>A (n.856-6319G>A) c.868-6319G>A (n.868-6319G>A) c.862-6319G>A (n.862-6319G>A) c.428G>A (p.Ser143Asn) c.61-6319G>A (n.61-6319G>A) c.442-6319G>A (n.442-6319G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.233760715G>C | CA351066654 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G>C (n.856-6319G>C) c.868-6319G>C (n.868-6319G>C) c.862-6319G>C (n.862-6319G>C) c.428G>C (p.Ser143Thr) c.61-6319G>C (n.61-6319G>C) c.442-6319G>C (n.442-6319G>C) | |
2 | g.233760715G= | CA1335889365 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G= (n.856-6319G=) c.868-6319G= (n.868-6319G=) c.862-6319G= (n.862-6319G=) c.428G= (p.Ser143=) c.61-6319G= (n.61-6319G=) c.442-6319G= (n.442-6319G=) | |
2 | g.233760715G>T | CA351066655 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G>T (n.856-6319G>T) c.868-6319G>T (n.868-6319G>T) c.862-6319G>T (n.862-6319G>T) c.428G>T (p.Ser143Ile) c.61-6319G>T (n.61-6319G>T) c.442-6319G>T (n.442-6319G>T) | |
2 | g.233760716C>A | CA351066656 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C>A (n.856-6318C>A) c.868-6318C>A (n.868-6318C>A) c.862-6318C>A (n.862-6318C>A) c.429C>A (p.Ser143Arg) c.61-6318C>A (n.61-6318C>A) c.442-6318C>A (n.442-6318C>A) | COSMIC COSMIC |
2 | g.233760716C= | CA1335889367 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C= (n.856-6318C=) c.868-6318C= (n.868-6318C=) c.862-6318C= (n.862-6318C=) c.429C= (p.Ser143=) c.61-6318C= (n.61-6318C=) c.442-6318C= (n.442-6318C=) | |
2 | g.233760716C>G | CA351066657 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C>G (n.856-6318C>G) c.868-6318C>G (n.868-6318C>G) c.862-6318C>G (n.862-6318C>G) c.429C>G (p.Ser143Arg) c.61-6318C>G (n.61-6318C>G) c.442-6318C>G (n.442-6318C>G) | |
2 | g.233760716C>T | CA431960424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C>T (n.856-6318C>T) c.868-6318C>T (n.868-6318C>T) c.862-6318C>T (n.862-6318C>T) c.429C>T (p.Ser143=) c.61-6318C>T (n.61-6318C>T) c.442-6318C>T (n.442-6318C>T) | dbSNP gnomAD v4 |
2 | g.233760717A>C | CA351066658 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6317A>C (n.856-6317A>C) c.868-6317A>C (n.868-6317A>C) c.862-6317A>C (n.862-6317A>C) c.430A>C (p.Ser144Arg) c.61-6317A>C (n.61-6317A>C) c.442-6317A>C (n.442-6317A>C) | |
2 | g.233760717A>G | CA351066659 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6317A>G (n.856-6317A>G) c.868-6317A>G (n.868-6317A>G) c.862-6317A>G (n.862-6317A>G) c.430A>G (p.Ser144Gly) c.61-6317A>G (n.61-6317A>G) c.442-6317A>G (n.442-6317A>G) | |
2 | g.233760717A>T | CA351066660 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6317A>T (n.856-6317A>T) c.868-6317A>T (n.868-6317A>T) c.862-6317A>T (n.862-6317A>T) c.430A>T (p.Ser144Cys) c.61-6317A>T (n.61-6317A>T) c.442-6317A>T (n.442-6317A>T) | |
2 | g.233760718G>A | CA351066661 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G>A (n.856-6316G>A) c.868-6316G>A (n.868-6316G>A) c.862-6316G>A (n.862-6316G>A) c.431G>A (p.Ser144Asn) c.61-6316G>A (n.61-6316G>A) c.442-6316G>A (n.442-6316G>A) | |
2 | g.233760718G>C | CA351066662 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G>C (n.856-6316G>C) c.868-6316G>C (n.868-6316G>C) c.862-6316G>C (n.862-6316G>C) c.431G>C (p.Ser144Thr) c.61-6316G>C (n.61-6316G>C) c.442-6316G>C (n.442-6316G>C) | |
2 | g.233760718G= | CA1335889369 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G= (n.856-6316G=) c.868-6316G= (n.868-6316G=) c.862-6316G= (n.862-6316G=) c.431G= (p.Ser144=) c.61-6316G= (n.61-6316G=) c.442-6316G= (n.442-6316G=) | |
2 | g.233760718G>T | CA351066663 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G>T (n.856-6316G>T) c.868-6316G>T (n.868-6316G>T) c.862-6316G>T (n.862-6316G>T) c.431G>T (p.Ser144Ile) c.61-6316G>T (n.61-6316G>T) c.442-6316G>T (n.442-6316G>T) | dbSNP |
2 | g.233760719C>A | CA351066664 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>A (n.856-6315C>A) c.868-6315C>A (n.868-6315C>A) c.862-6315C>A (n.862-6315C>A) c.432C>A (p.Ser144Arg) c.61-6315C>A (n.61-6315C>A) c.442-6315C>A (n.442-6315C>A) | gnomAD v4 |
2 | g.233760719C>G | CA351066665 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>G (n.856-6315C>G) c.868-6315C>G (n.868-6315C>G) c.862-6315C>G (n.862-6315C>G) c.432C>G (p.Ser144Arg) c.61-6315C>G (n.61-6315C>G) c.442-6315C>G (n.442-6315C>G) | |
2 | g.233760719C>T | CA431960425 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>T (n.856-6315C>T) c.868-6315C>T (n.868-6315C>T) c.862-6315C>T (n.862-6315C>T) c.432C>T (p.Ser144=) c.61-6315C>T (n.61-6315C>T) c.442-6315C>T (n.442-6315C>T) | |
2 | g.233760720T>A | CA351066666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>A (n.856-6314T>A) c.868-6314T>A (n.868-6314T>A) c.862-6314T>A (n.862-6314T>A) c.433T>A (p.Phe145Ile) c.61-6314T>A (n.61-6314T>A) c.442-6314T>A (n.442-6314T>A) | |
2 | g.233760720T>C | CA351066667 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>C (n.856-6314T>C) c.868-6314T>C (n.868-6314T>C) c.862-6314T>C (n.862-6314T>C) c.433T>C (p.Phe145Leu) c.61-6314T>C (n.61-6314T>C) c.442-6314T>C (n.442-6314T>C) | |
2 | g.233760720T>G | CA351066668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>G (n.856-6314T>G) c.868-6314T>G (n.868-6314T>G) c.862-6314T>G (n.862-6314T>G) c.433T>G (p.Phe145Val) c.61-6314T>G (n.61-6314T>G) c.442-6314T>G (n.442-6314T>G) | COSMIC |
2 | g.233760721T>A | CA351066669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>A (n.856-6313T>A) c.868-6313T>A (n.868-6313T>A) c.862-6313T>A (n.862-6313T>A) c.434T>A (p.Phe145Tyr) c.61-6313T>A (n.61-6313T>A) c.442-6313T>A (n.442-6313T>A) | |
2 | g.233760721T>C | CA351066671 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>C (n.856-6313T>C) c.868-6313T>C (n.868-6313T>C) c.862-6313T>C (n.862-6313T>C) c.434T>C (p.Phe145Ser) c.61-6313T>C (n.61-6313T>C) c.442-6313T>C (n.442-6313T>C) | |
2 | g.233760721T>G | CA351066670 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>G (n.856-6313T>G) c.868-6313T>G (n.868-6313T>G) c.862-6313T>G (n.862-6313T>G) c.434T>G (p.Phe145Cys) c.61-6313T>G (n.61-6313T>G) c.442-6313T>G (n.442-6313T>G) | |
2 | g.233760722T>A | CA351066672 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>A (n.856-6312T>A) c.868-6312T>A (n.868-6312T>A) c.862-6312T>A (n.862-6312T>A) c.435T>A (p.Phe145Leu) c.61-6312T>A (n.61-6312T>A) c.442-6312T>A (n.442-6312T>A) | |
2 | g.233760722T>C | CA431960426 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>C (n.856-6312T>C) c.868-6312T>C (n.868-6312T>C) c.862-6312T>C (n.862-6312T>C) c.435T>C (p.Phe145=) c.61-6312T>C (n.61-6312T>C) c.442-6312T>C (n.442-6312T>C) | |
2 | g.233760722T>G | CA351066673 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>G (n.856-6312T>G) c.868-6312T>G (n.868-6312T>G) c.862-6312T>G (n.862-6312T>G) c.435T>G (p.Phe145Leu) c.61-6312T>G (n.61-6312T>G) c.442-6312T>G (n.442-6312T>G) | |
2 | g.233760723G>A | CA351066674 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>A (n.856-6311G>A) c.868-6311G>A (n.868-6311G>A) c.862-6311G>A (n.862-6311G>A) c.436G>A (p.Asp146Asn) c.61-6311G>A (n.61-6311G>A) c.442-6311G>A (n.442-6311G>A) | |
2 | g.233760723G>C | CA351066675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>C (n.856-6311G>C) c.868-6311G>C (n.868-6311G>C) c.862-6311G>C (n.862-6311G>C) c.436G>C (p.Asp146His) c.61-6311G>C (n.61-6311G>C) c.442-6311G>C (n.442-6311G>C) | |
2 | g.233760723G>T | CA351066676 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>T (n.856-6311G>T) c.868-6311G>T (n.868-6311G>T) c.862-6311G>T (n.862-6311G>T) c.436G>T (p.Asp146Tyr) c.61-6311G>T (n.61-6311G>T) c.442-6311G>T (n.442-6311G>T) | |
2 | g.233760724A>C | CA351066677 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>C (n.856-6310A>C) c.868-6310A>C (n.868-6310A>C) c.862-6310A>C (n.862-6310A>C) c.437A>C (p.Asp146Ala) c.61-6310A>C (n.61-6310A>C) c.442-6310A>C (n.442-6310A>C) | |
2 | g.233760724A>G | CA351066678 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>G (n.856-6310A>G) c.868-6310A>G (n.868-6310A>G) c.862-6310A>G (n.862-6310A>G) c.437A>G (p.Asp146Gly) c.61-6310A>G (n.61-6310A>G) c.442-6310A>G (n.442-6310A>G) | |
2 | g.233760724A>T | CA351066679 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>T (n.856-6310A>T) c.868-6310A>T (n.868-6310A>T) c.862-6310A>T (n.862-6310A>T) c.437A>T (p.Asp146Val) c.61-6310A>T (n.61-6310A>T) c.442-6310A>T (n.442-6310A>T) | |
2 | g.233760725T>A | CA351066680 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>A (n.856-6309T>A) c.868-6309T>A (n.868-6309T>A) c.862-6309T>A (n.862-6309T>A) c.438T>A (p.Asp146Glu) c.61-6309T>A (n.61-6309T>A) c.442-6309T>A (n.442-6309T>A) | |
2 | g.233760725T>C | CA431960427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>C (n.856-6309T>C) c.868-6309T>C (n.868-6309T>C) c.862-6309T>C (n.862-6309T>C) c.438T>C (p.Asp146=) c.61-6309T>C (n.61-6309T>C) c.442-6309T>C (n.442-6309T>C) | |
2 | g.233760725T>G | CA351066681 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>G (n.856-6309T>G) c.868-6309T>G (n.868-6309T>G) c.862-6309T>G (n.862-6309T>G) c.438T>G (p.Asp146Glu) c.61-6309T>G (n.61-6309T>G) c.442-6309T>G (n.442-6309T>G) | |
2 | g.233760726G>A | CA351066682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>A (n.856-6308G>A) c.868-6308G>A (n.868-6308G>A) c.862-6308G>A (n.862-6308G>A) c.439G>A (p.Val147Ile) c.61-6308G>A (n.61-6308G>A) c.442-6308G>A (n.442-6308G>A) | |
2 | g.233760726G>C | CA351066683 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>C (n.856-6308G>C) c.868-6308G>C (n.868-6308G>C) c.862-6308G>C (n.862-6308G>C) c.439G>C (p.Val147Leu) c.61-6308G>C (n.61-6308G>C) c.442-6308G>C (n.442-6308G>C) | |
2 | g.233760726G>T | CA351066684 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>T (n.856-6308G>T) c.868-6308G>T (n.868-6308G>T) c.862-6308G>T (n.862-6308G>T) c.439G>T (p.Val147Phe) c.61-6308G>T (n.61-6308G>T) c.442-6308G>T (n.442-6308G>T) | |
2 | g.233760727T>A | CA351066687 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>A (n.856-6307T>A) c.868-6307T>A (n.868-6307T>A) c.862-6307T>A (n.862-6307T>A) c.440T>A (p.Val147Asp) c.61-6307T>A (n.61-6307T>A) c.442-6307T>A (n.442-6307T>A) | |
2 | g.233760727T>C | CA351066685 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>C (n.856-6307T>C) c.868-6307T>C (n.868-6307T>C) c.862-6307T>C (n.862-6307T>C) c.440T>C (p.Val147Ala) c.61-6307T>C (n.61-6307T>C) c.442-6307T>C (n.442-6307T>C) | |
2 | g.233760727T>G | CA351066686 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>G (n.856-6307T>G) c.868-6307T>G (n.868-6307T>G) c.862-6307T>G (n.862-6307T>G) c.440T>G (p.Val147Gly) c.61-6307T>G (n.61-6307T>G) c.442-6307T>G (n.442-6307T>G) | gnomAD v4 |
2 | g.233760728C>A | CA431960429 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C>A (n.856-6306C>A) c.868-6306C>A (n.868-6306C>A) c.862-6306C>A (n.862-6306C>A) c.441C>A (p.Val147=) c.61-6306C>A (n.61-6306C>A) c.442-6306C>A (n.442-6306C>A) | COSMIC |
2 | g.233760728C= | CA1335889371 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C= (n.856-6306C=) c.868-6306C= (n.868-6306C=) c.862-6306C= (n.862-6306C=) c.441C= (p.Val147=) c.61-6306C= (n.61-6306C=) c.442-6306C= (n.442-6306C=) | |
2 | g.233760728C>G | CA431960428 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C>G (n.856-6306C>G) c.868-6306C>G (n.868-6306C>G) c.862-6306C>G (n.862-6306C>G) c.441C>G (p.Val147=) c.61-6306C>G (n.61-6306C>G) c.442-6306C>G (n.442-6306C>G) | |
2 | g.233760728C>T | CA431960430 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C>T (n.856-6306C>T) c.868-6306C>T (n.868-6306C>T) c.862-6306C>T (n.862-6306C>T) c.441C>T (p.Val147=) c.61-6306C>T (n.61-6306C>T) c.442-6306C>T (n.442-6306C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760729A= | CA1335889373 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A= (n.856-6305A=) c.868-6305A= (n.868-6305A=) c.862-6305A= (n.862-6305A=) c.442A= (p.Met148=) c.61-6305A= (n.61-6305A=) c.442-6305A= (n.442-6305A=) | |
2 | g.233760729A>C | CA351066688 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>C (n.856-6305A>C) c.868-6305A>C (n.868-6305A>C) c.862-6305A>C (n.862-6305A>C) c.442A>C (p.Met148Leu) c.61-6305A>C (n.61-6305A>C) c.442-6305A>C (n.442-6305A>C) | |
2 | g.233760729A>G | CA351066689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>G (n.856-6305A>G) c.868-6305A>G (n.868-6305A>G) c.862-6305A>G (n.862-6305A>G) c.442A>G (p.Met148Val) c.61-6305A>G (n.61-6305A>G) c.442-6305A>G (n.442-6305A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760729A>T | CA351066690 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>T (n.856-6305A>T) c.868-6305A>T (n.868-6305A>T) c.862-6305A>T (n.862-6305A>T) c.442A>T (p.Met148Leu) c.61-6305A>T (n.61-6305A>T) c.442-6305A>T (n.442-6305A>T) | |
2 | g.233760730T>A | CA351066691 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>A (n.856-6304T>A) c.868-6304T>A (n.868-6304T>A) c.862-6304T>A (n.862-6304T>A) c.443T>A (p.Met148Lys) c.61-6304T>A (n.61-6304T>A) c.442-6304T>A (n.442-6304T>A) | |
2 | g.233760730T>C | CA351066692 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>C (n.856-6304T>C) c.868-6304T>C (n.868-6304T>C) c.862-6304T>C (n.862-6304T>C) c.443T>C (p.Met148Thr) c.61-6304T>C (n.61-6304T>C) c.442-6304T>C (n.442-6304T>C) | |
2 | g.233760730T>G | CA351066693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>G (n.856-6304T>G) c.868-6304T>G (n.868-6304T>G) c.862-6304T>G (n.862-6304T>G) c.443T>G (p.Met148Arg) c.61-6304T>G (n.61-6304T>G) c.442-6304T>G (n.442-6304T>G) | |
2 | g.233760731G>A | CA351066694 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>A (n.856-6303G>A) c.868-6303G>A (n.868-6303G>A) c.862-6303G>A (n.862-6303G>A) c.444G>A (p.Met148Ile) c.61-6303G>A (n.61-6303G>A) c.442-6303G>A (n.442-6303G>A) | |
2 | g.233760731G>C | CA351066695 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>C (n.856-6303G>C) c.868-6303G>C (n.868-6303G>C) c.862-6303G>C (n.862-6303G>C) c.444G>C (p.Met148Ile) c.61-6303G>C (n.61-6303G>C) c.442-6303G>C (n.442-6303G>C) | |
2 | g.233760731G>T | CA351066696 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>T (n.856-6303G>T) c.868-6303G>T (n.868-6303G>T) c.862-6303G>T (n.862-6303G>T) c.444G>T (p.Met148Ile) c.61-6303G>T (n.61-6303G>T) c.442-6303G>T (n.442-6303G>T) | |
2 | g.233760732C>A | CA351066697 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>A (n.856-6302C>A) c.868-6302C>A (n.868-6302C>A) c.862-6302C>A (n.862-6302C>A) c.445C>A (p.Leu149Met) c.61-6302C>A (n.61-6302C>A) c.442-6302C>A (n.442-6302C>A) | |
2 | g.233760732C>G | CA351066698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>G (n.856-6302C>G) c.868-6302C>G (n.868-6302C>G) c.862-6302C>G (n.862-6302C>G) c.445C>G (p.Leu149Val) c.61-6302C>G (n.61-6302C>G) c.442-6302C>G (n.442-6302C>G) | |
2 | g.233760732C>T | CA431960431 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>T (n.856-6302C>T) c.868-6302C>T (n.868-6302C>T) c.862-6302C>T (n.862-6302C>T) c.445C>T (p.Leu149=) c.61-6302C>T (n.61-6302C>T) c.442-6302C>T (n.442-6302C>T) | |
2 | g.233760733T>A | CA351066700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>A (n.856-6301T>A) c.868-6301T>A (n.868-6301T>A) c.862-6301T>A (n.862-6301T>A) c.446T>A (p.Leu149Gln) c.61-6301T>A (n.61-6301T>A) c.442-6301T>A (n.442-6301T>A) | |
2 | g.233760733T>C | CA351066701 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>C (n.856-6301T>C) c.868-6301T>C (n.868-6301T>C) c.862-6301T>C (n.862-6301T>C) c.446T>C (p.Leu149Pro) c.61-6301T>C (n.61-6301T>C) c.442-6301T>C (n.442-6301T>C) | |
2 | g.233760733T>G | CA351066699 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>G (n.856-6301T>G) c.868-6301T>G (n.868-6301T>G) c.862-6301T>G (n.862-6301T>G) c.446T>G (p.Leu149Arg) c.61-6301T>G (n.61-6301T>G) c.442-6301T>G (n.442-6301T>G) | gnomAD v4 |
2 | g.233760733_233760741delinsTGACGGACC | CA1335889375 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301_856-6293delinsTGACGGACC (n.856-6301_856-6293delinsTGACGGACC) c.868-6301_868-6293delinsTGACGGACC (n.868-6301_868-6293delinsTGACGGACC) c.862-6301_862-6293delinsTGACGGACC (n.862-6301_862-6293delinsTGACGGACC) c.446_454delinsTGACGGACC (p.Leu149=) c.61-6301_61-6293delinsTGACGGACC (n.61-6301_61-6293delinsTGACGGACC) c.442-6301_442-6293delinsTGACGGACC (n.442-6301_442-6293delinsTGACGGACC) | |
2 | g.233760734G>A | CA431960432 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G>A (n.856-6300G>A) c.868-6300G>A (n.868-6300G>A) c.862-6300G>A (n.862-6300G>A) c.447G>A (p.Leu149=) c.61-6300G>A (n.61-6300G>A) c.442-6300G>A (n.442-6300G>A) | |
2 | g.233760734G>C | CA431960434 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G>C (n.856-6300G>C) c.868-6300G>C (n.868-6300G>C) c.862-6300G>C (n.862-6300G>C) c.447G>C (p.Leu149=) c.61-6300G>C (n.61-6300G>C) c.442-6300G>C (n.442-6300G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760734G= | CA1335889376 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G= (n.856-6300G=) c.868-6300G= (n.868-6300G=) c.862-6300G= (n.862-6300G=) c.447G= (p.Leu149=) c.61-6300G= (n.61-6300G=) c.442-6300G= (n.442-6300G=) | |
2 | g.233760734G>T | CA431960433 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G>T (n.856-6300G>T) c.868-6300G>T (n.868-6300G>T) c.862-6300G>T (n.862-6300G>T) c.447G>T (p.Leu149=) c.61-6300G>T (n.61-6300G>T) c.442-6300G>T (n.442-6300G>T) | |
2 | g.233760734_233760741del | CA1335889377 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300_856-6293del (n.856-6300_856-6293del) c.868-6300_868-6293del (n.868-6300_868-6293del) c.862-6300_862-6293del (n.862-6300_862-6293del) c.447_454del (p.Thr150PhefsTer?) c.61-6300_61-6293del (n.61-6300_61-6293del) c.442-6300_442-6293del (n.442-6300_442-6293del) | dbSNP |
2 | g.233760735A>C | CA351066702 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6299A>C (n.856-6299A>C) c.868-6299A>C (n.868-6299A>C) c.862-6299A>C (n.862-6299A>C) c.448A>C (p.Thr150Pro) c.61-6299A>C (n.61-6299A>C) c.442-6299A>C (n.442-6299A>C) | |
2 | g.233760735A>G | CA351066703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6299A>G (n.856-6299A>G) c.868-6299A>G (n.868-6299A>G) c.862-6299A>G (n.862-6299A>G) c.448A>G (p.Thr150Ala) c.61-6299A>G (n.61-6299A>G) c.442-6299A>G (n.442-6299A>G) | |
2 | g.233760735A>T | CA351066704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6299A>T (n.856-6299A>T) c.868-6299A>T (n.868-6299A>T) c.862-6299A>T (n.862-6299A>T) c.448A>T (p.Thr150Ser) c.61-6299A>T (n.61-6299A>T) c.442-6299A>T (n.442-6299A>T) | |
2 | g.233760736C>A | CA351066705 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C>A (n.856-6298C>A) c.868-6298C>A (n.868-6298C>A) c.862-6298C>A (n.862-6298C>A) c.449C>A (p.Thr150Lys) c.61-6298C>A (n.61-6298C>A) c.442-6298C>A (n.442-6298C>A) | |
2 | g.233760736C= | CA1335889380 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C= (n.856-6298C=) c.868-6298C= (n.868-6298C=) c.862-6298C= (n.862-6298C=) c.449C= (p.Thr150=) c.61-6298C= (n.61-6298C=) c.442-6298C= (n.442-6298C=) | |
2 | g.233760736C>G | CA2179824 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C>G (n.856-6298C>G) c.868-6298C>G (n.868-6298C>G) c.862-6298C>G (n.862-6298C>G) c.449C>G (p.Thr150Arg) c.61-6298C>G (n.61-6298C>G) c.442-6298C>G (n.442-6298C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760736C>T | CA2179825 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C>T (n.856-6298C>T) c.868-6298C>T (n.868-6298C>T) c.862-6298C>T (n.862-6298C>T) c.449C>T (p.Thr150Met) c.61-6298C>T (n.61-6298C>T) c.442-6298C>T (n.442-6298C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.233760737G>A | CA2179826 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G>A (n.856-6297G>A) c.868-6297G>A (n.868-6297G>A) c.862-6297G>A (n.862-6297G>A) c.450G>A (p.Thr150=) c.61-6297G>A (n.61-6297G>A) c.442-6297G>A (n.442-6297G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760737G>C | CA431960436 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G>C (n.856-6297G>C) c.868-6297G>C (n.868-6297G>C) c.862-6297G>C (n.862-6297G>C) c.450G>C (p.Thr150=) c.61-6297G>C (n.61-6297G>C) c.442-6297G>C (n.442-6297G>C) | |
2 | g.233760737G= | CA1335889383 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G= (n.856-6297G=) c.868-6297G= (n.868-6297G=) c.862-6297G= (n.862-6297G=) c.450G= (p.Thr150=) c.61-6297G= (n.61-6297G=) c.442-6297G= (n.442-6297G=) | |
2 | g.233760737G>T | CA431960435 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G>T (n.856-6297G>T) c.868-6297G>T (n.868-6297G>T) c.862-6297G>T (n.862-6297G>T) c.450G>T (p.Thr150=) c.61-6297G>T (n.61-6297G>T) c.442-6297G>T (n.442-6297G>T) | |
2 | g.233760738G>A | CA351066706 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6296G>A (n.856-6296G>A) c.868-6296G>A (n.868-6296G>A) c.862-6296G>A (n.862-6296G>A) c.451G>A (p.Asp151Asn) c.61-6296G>A (n.61-6296G>A) c.442-6296G>A (n.442-6296G>A) | COSMIC |
2 | g.233760738G>C | CA351066707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6296G>C (n.856-6296G>C) c.868-6296G>C (n.868-6296G>C) c.862-6296G>C (n.862-6296G>C) c.451G>C (p.Asp151His) c.61-6296G>C (n.61-6296G>C) c.442-6296G>C (n.442-6296G>C) | |
2 | g.233760738G>T | CA351066708 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6296G>T (n.856-6296G>T) c.868-6296G>T (n.868-6296G>T) c.862-6296G>T (n.862-6296G>T) c.451G>T (p.Asp151Tyr) c.61-6296G>T (n.61-6296G>T) c.442-6296G>T (n.442-6296G>T) | |
2 | g.233760739A= | CA1335889385 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A= (n.856-6295A=) c.868-6295A= (n.868-6295A=) c.862-6295A= (n.862-6295A=) c.452A= (p.Asp151=) c.61-6295A= (n.61-6295A=) c.442-6295A= (n.442-6295A=) | |
2 | g.233760739A>C | CA351066709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A>C (n.856-6295A>C) c.868-6295A>C (n.868-6295A>C) c.862-6295A>C (n.862-6295A>C) c.452A>C (p.Asp151Ala) c.61-6295A>C (n.61-6295A>C) c.442-6295A>C (n.442-6295A>C) | gnomAD v4 |
2 | g.233760739A>G | CA351066710 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A>G (n.856-6295A>G) c.868-6295A>G (n.868-6295A>G) c.862-6295A>G (n.862-6295A>G) c.452A>G (p.Asp151Gly) c.61-6295A>G (n.61-6295A>G) c.442-6295A>G (n.442-6295A>G) | dbSNP |
2 | g.233760739A>T | CA351066711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A>T (n.856-6295A>T) c.868-6295A>T (n.868-6295A>T) c.862-6295A>T (n.862-6295A>T) c.452A>T (p.Asp151Val) c.61-6295A>T (n.61-6295A>T) c.442-6295A>T (n.442-6295A>T) | |
2 | g.233760740C>A | CA351066712 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6294C>A (n.856-6294C>A) c.868-6294C>A (n.868-6294C>A) c.862-6294C>A (n.862-6294C>A) c.453C>A (p.Asp151Glu) c.61-6294C>A (n.61-6294C>A) c.442-6294C>A (n.442-6294C>A) | |
2 | g.233760740C>G | CA351066713 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6294C>G (n.856-6294C>G) c.868-6294C>G (n.868-6294C>G) c.862-6294C>G (n.862-6294C>G) c.453C>G (p.Asp151Glu) c.61-6294C>G (n.61-6294C>G) c.442-6294C>G (n.442-6294C>G) | |
2 | g.233760740C>T | CA431960437 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6294C>T (n.856-6294C>T) c.868-6294C>T (n.868-6294C>T) c.862-6294C>T (n.862-6294C>T) c.453C>T (p.Asp151=) c.61-6294C>T (n.61-6294C>T) c.442-6294C>T (n.442-6294C>T) | dbSNP gnomAD v4 |
2 | g.233760741C>A | CA351066714 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6293C>A (n.856-6293C>A) c.868-6293C>A (n.868-6293C>A) c.862-6293C>A (n.862-6293C>A) c.454C>A (p.Pro152Thr) c.61-6293C>A (n.61-6293C>A) c.442-6293C>A (n.442-6293C>A) | |
2 | g.233760741C>G | CA351066715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6293C>G (n.856-6293C>G) c.868-6293C>G (n.868-6293C>G) c.862-6293C>G (n.862-6293C>G) c.454C>G (p.Pro152Ala) c.61-6293C>G (n.61-6293C>G) c.442-6293C>G (n.442-6293C>G) | gnomAD v4 |
2 | g.233760741C>T | CA351066716 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6293C>T (n.856-6293C>T) c.868-6293C>T (n.868-6293C>T) c.862-6293C>T (n.862-6293C>T) c.454C>T (p.Pro152Ser) c.61-6293C>T (n.61-6293C>T) c.442-6293C>T (n.442-6293C>T) | |
2 | g.233760742C>A | CA2179827 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C>A (n.856-6292C>A) c.868-6292C>A (n.868-6292C>A) c.862-6292C>A (n.862-6292C>A) c.455C>A (p.Pro152His) c.61-6292C>A (n.61-6292C>A) c.442-6292C>A (n.442-6292C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760742C= | CA1335889387 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C= (n.856-6292C=) c.868-6292C= (n.868-6292C=) c.862-6292C= (n.862-6292C=) c.455C= (p.Pro152=) c.61-6292C= (n.61-6292C=) c.442-6292C= (n.442-6292C=) | |
2 | g.233760742C>G | CA67589971 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C>G (n.856-6292C>G) c.868-6292C>G (n.868-6292C>G) c.862-6292C>G (n.862-6292C>G) c.455C>G (p.Pro152Arg) c.61-6292C>G (n.61-6292C>G) c.442-6292C>G (n.442-6292C>G) | dbSNP |
2 | g.233760742C>T | CA351066717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C>T (n.856-6292C>T) c.868-6292C>T (n.868-6292C>T) c.862-6292C>T (n.862-6292C>T) c.455C>T (p.Pro152Leu) c.61-6292C>T (n.61-6292C>T) c.442-6292C>T (n.442-6292C>T) | gnomAD v4 |
2 | g.233760743T>A | CA431960438 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6291T>A (n.856-6291T>A) c.868-6291T>A (n.868-6291T>A) c.862-6291T>A (n.862-6291T>A) c.456T>A (p.Pro152=) c.61-6291T>A (n.61-6291T>A) c.442-6291T>A (n.442-6291T>A) | |
2 | g.233760743T>C | CA67589976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6291T>C (n.856-6291T>C) c.868-6291T>C (n.868-6291T>C) c.862-6291T>C (n.862-6291T>C) c.456T>C (p.Pro152=) c.61-6291T>C (n.61-6291T>C) c.442-6291T>C (n.442-6291T>C) | dbSNP |
2 | g.233760743T>G | CA431960439 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6291T>G (n.856-6291T>G) c.868-6291T>G (n.868-6291T>G) c.862-6291T>G (n.862-6291T>G) c.456T>G (p.Pro152=) c.61-6291T>G (n.61-6291T>G) c.442-6291T>G (n.442-6291T>G) | |
2 | g.233760743T= | CA1335889389 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6291T= (n.856-6291T=) c.868-6291T= (n.868-6291T=) c.862-6291T= (n.862-6291T=) c.456T= (p.Pro152=) c.61-6291T= (n.61-6291T=) c.442-6291T= (n.442-6291T=) | |
2 | g.233760744T>A | CA351066718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6290T>A (n.856-6290T>A) c.868-6290T>A (n.868-6290T>A) c.862-6290T>A (n.862-6290T>A) c.457T>A (p.Phe153Ile) c.61-6290T>A (n.61-6290T>A) c.442-6290T>A (n.442-6290T>A) | |
2 | g.233760744T>C | CA351066719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6290T>C (n.856-6290T>C) c.868-6290T>C (n.868-6290T>C) c.862-6290T>C (n.862-6290T>C) c.457T>C (p.Phe153Leu) c.61-6290T>C (n.61-6290T>C) c.442-6290T>C (n.442-6290T>C) | |
2 | g.233760744T>G | CA351066720 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6290T>G (n.856-6290T>G) c.868-6290T>G (n.868-6290T>G) c.862-6290T>G (n.862-6290T>G) c.457T>G (p.Phe153Val) c.61-6290T>G (n.61-6290T>G) c.442-6290T>G (n.442-6290T>G) | |
2 | g.233760745T>A | CA351066721 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6289T>A (n.856-6289T>A) c.868-6289T>A (n.868-6289T>A) c.862-6289T>A (n.862-6289T>A) c.458T>A (p.Phe153Tyr) c.61-6289T>A (n.61-6289T>A) c.442-6289T>A (n.442-6289T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760745T>C | CA351066722 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6289T>C (n.856-6289T>C) c.868-6289T>C (n.868-6289T>C) c.862-6289T>C (n.862-6289T>C) c.458T>C (p.Phe153Ser) c.61-6289T>C (n.61-6289T>C) c.442-6289T>C (n.442-6289T>C) | |
2 | g.233760745T>G | CA351066723 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6289T>G (n.856-6289T>G) c.868-6289T>G (n.868-6289T>G) c.862-6289T>G (n.862-6289T>G) c.458T>G (p.Phe153Cys) c.61-6289T>G (n.61-6289T>G) c.442-6289T>G (n.442-6289T>G) | |
2 | g.233760745T= | CA1335889391 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6289T= (n.856-6289T=) c.868-6289T= (n.868-6289T=) c.862-6289T= (n.862-6289T=) c.458T= (p.Phe153=) c.61-6289T= (n.61-6289T=) c.442-6289T= (n.442-6289T=) | |
2 | g.233760746C>A | CA67589988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6288C>A (n.856-6288C>A) c.868-6288C>A (n.868-6288C>A) c.862-6288C>A (n.862-6288C>A) c.459C>A (p.Phe153Leu) c.61-6288C>A (n.61-6288C>A) c.442-6288C>A (n.442-6288C>A) | dbSNP |
2 | g.233760746C= | CA1335889393 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6288C= (n.856-6288C=) c.868-6288C= (n.868-6288C=) c.862-6288C= (n.862-6288C=) c.459C= (p.Phe153=) c.61-6288C= (n.61-6288C=) c.442-6288C= (n.442-6288C=) | |
2 | g.233760746C>G | CA351066724 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6288C>G (n.856-6288C>G) c.868-6288C>G (n.868-6288C>G) c.862-6288C>G (n.862-6288C>G) c.459C>G (p.Phe153Leu) c.61-6288C>G (n.61-6288C>G) c.442-6288C>G (n.442-6288C>G) | dbSNP |
2 | g.233760746C>T | CA431960440 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6288C>T (n.856-6288C>T) c.868-6288C>T (n.868-6288C>T) c.862-6288C>T (n.862-6288C>T) c.459C>T (p.Phe153=) c.61-6288C>T (n.61-6288C>T) c.442-6288C>T (n.442-6288C>T) | |
2 | g.233760747C>A | CA351066725 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6287C>A (n.856-6287C>A) c.868-6287C>A (n.868-6287C>A) c.862-6287C>A (n.862-6287C>A) c.460C>A (p.Leu154Ile) c.61-6287C>A (n.61-6287C>A) c.442-6287C>A (n.442-6287C>A) | |
2 | g.233760747C>G | CA351066727 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6287C>G (n.856-6287C>G) c.868-6287C>G (n.868-6287C>G) c.862-6287C>G (n.862-6287C>G) c.460C>G (p.Leu154Val) c.61-6287C>G (n.61-6287C>G) c.442-6287C>G (n.442-6287C>G) | |
2 | g.233760747C>T | CA351066726 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6287C>T (n.856-6287C>T) c.868-6287C>T (n.868-6287C>T) c.862-6287C>T (n.862-6287C>T) c.460C>T (p.Leu154Phe) c.61-6287C>T (n.61-6287C>T) c.442-6287C>T (n.442-6287C>T) | |
2 | g.233760748T>A | CA351066728 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6286T>A (n.856-6286T>A) c.868-6286T>A (n.868-6286T>A) c.862-6286T>A (n.862-6286T>A) c.461T>A (p.Leu154His) c.61-6286T>A (n.61-6286T>A) c.442-6286T>A (n.442-6286T>A) | |
2 | g.233760748T>C | CA351066730 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6286T>C (n.856-6286T>C) c.868-6286T>C (n.868-6286T>C) c.862-6286T>C (n.862-6286T>C) c.461T>C (p.Leu154Pro) c.61-6286T>C (n.61-6286T>C) c.442-6286T>C (n.442-6286T>C) | |
2 | g.233760748T>G | CA351066729 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6286T>G (n.856-6286T>G) c.868-6286T>G (n.868-6286T>G) c.862-6286T>G (n.862-6286T>G) c.461T>G (p.Leu154Arg) c.61-6286T>G (n.61-6286T>G) c.442-6286T>G (n.442-6286T>G) | |
2 | g.233760749T>A | CA431960442 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6285T>A (n.856-6285T>A) c.868-6285T>A (n.868-6285T>A) c.862-6285T>A (n.862-6285T>A) c.462T>A (p.Leu154=) c.61-6285T>A (n.61-6285T>A) c.442-6285T>A (n.442-6285T>A) | |
2 | g.233760749T>C | CA431960443 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6285T>C (n.856-6285T>C) c.868-6285T>C (n.868-6285T>C) c.862-6285T>C (n.862-6285T>C) c.462T>C (p.Leu154=) c.61-6285T>C (n.61-6285T>C) c.442-6285T>C (n.442-6285T>C) | |
2 | g.233760749T>G | CA431960441 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6285T>G (n.856-6285T>G) c.868-6285T>G (n.868-6285T>G) c.862-6285T>G (n.862-6285T>G) c.462T>G (p.Leu154=) c.61-6285T>G (n.61-6285T>G) c.442-6285T>G (n.442-6285T>G) |