Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760894_233760918delinsCACATGACCTTCCTGCAGCGGGTGA | CA1335889643 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6140_856-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.856-6140_856-6116delinsCACATGACCTTCCTGCAGCGGGTGA) c.868-6140_868-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.868-6140_868-6116delinsCACATGACCTTCCTGCAGCGGGTGA) c.862-6140_862-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.862-6140_862-6116delinsCACATGACCTTCCTGCAGCGGGTGA) c.607_631delinsCACATGACCTTCCTGCAGCGGGTGA (p.His203=) c.61-6140_61-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.61-6140_61-6116delinsCACATGACCTTCCTGCAGCGGGTGA) c.442-6140_442-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.442-6140_442-6116delinsCACATGACCTTCCTGCAGCGGGTGA) | |
2 | g.233760896_233760919del | CA645372713 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6138_856-6115del (n.856-6138_856-6115del) c.868-6138_868-6115del (n.868-6138_868-6115del) c.862-6138_862-6115del (n.862-6138_862-6115del) c.609_632del (p.His203_Lys211delinsGln) c.61-6138_61-6115del (n.61-6138_61-6115del) c.442-6138_442-6115del (n.442-6138_442-6115del) | ClinVar dbSNP gnomAD v4 |
2 | g.233760899G>A | CA351067388 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6135G>A (n.856-6135G>A) c.868-6135G>A (n.868-6135G>A) c.862-6135G>A (n.862-6135G>A) c.612G>A (p.Met204Ile) c.61-6135G>A (n.61-6135G>A) c.442-6135G>A (n.442-6135G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760899G>C | CA351067386 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6135G>C (n.856-6135G>C) c.868-6135G>C (n.868-6135G>C) c.862-6135G>C (n.862-6135G>C) c.612G>C (p.Met204Ile) c.61-6135G>C (n.61-6135G>C) c.442-6135G>C (n.442-6135G>C) | |
2 | g.233760899G= | CA1335889655 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6135G= (n.856-6135G=) c.868-6135G= (n.868-6135G=) c.862-6135G= (n.862-6135G=) c.612G= (p.Met204=) c.61-6135G= (n.61-6135G=) c.442-6135G= (n.442-6135G=) | |
2 | g.233760899G>T | CA351067384 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6135G>T (n.856-6135G>T) c.868-6135G>T (n.868-6135G>T) c.862-6135G>T (n.862-6135G>T) c.612G>T (p.Met204Ile) c.61-6135G>T (n.61-6135G>T) c.442-6135G>T (n.442-6135G>T) | |
2 | g.233760900A>C | CA351067390 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6134A>C (n.856-6134A>C) c.868-6134A>C (n.868-6134A>C) c.862-6134A>C (n.862-6134A>C) c.613A>C (p.Thr205Pro) c.61-6134A>C (n.61-6134A>C) c.442-6134A>C (n.442-6134A>C) | |
2 | g.233760900A>G | CA351067392 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6134A>G (n.856-6134A>G) c.868-6134A>G (n.868-6134A>G) c.862-6134A>G (n.862-6134A>G) c.613A>G (p.Thr205Ala) c.61-6134A>G (n.61-6134A>G) c.442-6134A>G (n.442-6134A>G) | gnomAD v4 |
2 | g.233760900A>T | CA351067393 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6134A>T (n.856-6134A>T) c.868-6134A>T (n.868-6134A>T) c.862-6134A>T (n.862-6134A>T) c.613A>T (p.Thr205Ser) c.61-6134A>T (n.61-6134A>T) c.442-6134A>T (n.442-6134A>T) | |
2 | g.233760900_233760901delinsAC | CA1335889658 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6134_856-6133delinsAC (n.856-6134_856-6133delinsAC) c.868-6134_868-6133delinsAC (n.868-6134_868-6133delinsAC) c.862-6134_862-6133delinsAC (n.862-6134_862-6133delinsAC) c.613_614delinsAC (p.Thr205=) c.61-6134_61-6133delinsAC (n.61-6134_61-6133delinsAC) c.442-6134_442-6133delinsAC (n.442-6134_442-6133delinsAC) | |
2 | g.233760901C>A | CA351067395 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6133C>A (n.856-6133C>A) c.868-6133C>A (n.868-6133C>A) c.862-6133C>A (n.862-6133C>A) c.614C>A (p.Thr205Asn) c.61-6133C>A (n.61-6133C>A) c.442-6133C>A (n.442-6133C>A) | |
2 | g.233760901C= | CA1335889662 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6133C= (n.856-6133C=) c.868-6133C= (n.868-6133C=) c.862-6133C= (n.862-6133C=) c.614C= (p.Thr205=) c.61-6133C= (n.61-6133C=) c.442-6133C= (n.442-6133C=) | |
2 | g.233760901C>G | CA351067397 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6133C>G (n.856-6133C>G) c.868-6133C>G (n.868-6133C>G) c.862-6133C>G (n.862-6133C>G) c.614C>G (p.Thr205Ser) c.61-6133C>G (n.61-6133C>G) c.442-6133C>G (n.442-6133C>G) | |
2 | g.233760901C>T | CA2179854 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6133C>T (n.856-6133C>T) c.868-6133C>T (n.868-6133C>T) c.862-6133C>T (n.862-6133C>T) c.614C>T (p.Thr205Ile) c.61-6133C>T (n.61-6133C>T) c.442-6133C>T (n.442-6133C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760902del | CA1043554932 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6132del (n.856-6132del) c.868-6132del (n.868-6132del) c.862-6132del (n.862-6132del) c.615del (p.Phe206SerfsTer5) c.61-6132del (n.61-6132del) c.442-6132del (n.442-6132del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760902C>A | CA431960785 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6132C>A (n.856-6132C>A) c.868-6132C>A (n.868-6132C>A) c.862-6132C>A (n.862-6132C>A) c.615C>A (p.Thr205=) c.61-6132C>A (n.61-6132C>A) c.442-6132C>A (n.442-6132C>A) | |
2 | g.233760902C= | CA1335889664 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6132C= (n.856-6132C=) c.868-6132C= (n.868-6132C=) c.862-6132C= (n.862-6132C=) c.615C= (p.Thr205=) c.61-6132C= (n.61-6132C=) c.442-6132C= (n.442-6132C=) | |
2 | g.233760902C>G | CA431960787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6132C>G (n.856-6132C>G) c.868-6132C>G (n.868-6132C>G) c.862-6132C>G (n.862-6132C>G) c.615C>G (p.Thr205=) c.61-6132C>G (n.61-6132C>G) c.442-6132C>G (n.442-6132C>G) | |
2 | g.233760902C>T | CA431960786 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6132C>T (n.856-6132C>T) c.868-6132C>T (n.868-6132C>T) c.862-6132C>T (n.862-6132C>T) c.615C>T (p.Thr205=) c.61-6132C>T (n.61-6132C>T) c.442-6132C>T (n.442-6132C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760903T>A | CA351067400 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6131T>A (n.856-6131T>A) c.868-6131T>A (n.868-6131T>A) c.862-6131T>A (n.862-6131T>A) c.616T>A (p.Phe206Ile) c.61-6131T>A (n.61-6131T>A) c.442-6131T>A (n.442-6131T>A) | |
2 | g.233760903T>C | CA351067402 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6131T>C (n.856-6131T>C) c.868-6131T>C (n.868-6131T>C) c.862-6131T>C (n.862-6131T>C) c.616T>C (p.Phe206Leu) c.61-6131T>C (n.61-6131T>C) c.442-6131T>C (n.442-6131T>C) | |
2 | g.233760903T>G | CA351067404 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6131T>G (n.856-6131T>G) c.868-6131T>G (n.868-6131T>G) c.862-6131T>G (n.862-6131T>G) c.616T>G (p.Phe206Val) c.61-6131T>G (n.61-6131T>G) c.442-6131T>G (n.442-6131T>G) | |
2 | g.233760904T>A | CA351067409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6130T>A (n.856-6130T>A) c.868-6130T>A (n.868-6130T>A) c.862-6130T>A (n.862-6130T>A) c.617T>A (p.Phe206Tyr) c.61-6130T>A (n.61-6130T>A) c.442-6130T>A (n.442-6130T>A) | |
2 | g.233760904T>C | CA351067411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6130T>C (n.856-6130T>C) c.868-6130T>C (n.868-6130T>C) c.862-6130T>C (n.862-6130T>C) c.617T>C (p.Phe206Ser) c.61-6130T>C (n.61-6130T>C) c.442-6130T>C (n.442-6130T>C) | |
2 | g.233760904T>G | CA351067412 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6130T>G (n.856-6130T>G) c.868-6130T>G (n.868-6130T>G) c.862-6130T>G (n.862-6130T>G) c.617T>G (p.Phe206Cys) c.61-6130T>G (n.61-6130T>G) c.442-6130T>G (n.442-6130T>G) | |
2 | g.233760905C>A | CA351067414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6129C>A (n.856-6129C>A) c.868-6129C>A (n.868-6129C>A) c.862-6129C>A (n.862-6129C>A) c.618C>A (p.Phe206Leu) c.61-6129C>A (n.61-6129C>A) c.442-6129C>A (n.442-6129C>A) | |
2 | g.233760905C>G | CA351067416 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6129C>G (n.856-6129C>G) c.868-6129C>G (n.868-6129C>G) c.862-6129C>G (n.862-6129C>G) c.618C>G (p.Phe206Leu) c.61-6129C>G (n.61-6129C>G) c.442-6129C>G (n.442-6129C>G) | |
2 | g.233760905C>T | CA431960788 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6129C>T (n.856-6129C>T) c.868-6129C>T (n.868-6129C>T) c.862-6129C>T (n.862-6129C>T) c.618C>T (p.Phe206=) c.61-6129C>T (n.61-6129C>T) c.442-6129C>T (n.442-6129C>T) | |
2 | g.233760906C>A | CA351067418 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6128C>A (n.856-6128C>A) c.868-6128C>A (n.868-6128C>A) c.862-6128C>A (n.862-6128C>A) c.619C>A (p.Leu207Met) c.61-6128C>A (n.61-6128C>A) c.442-6128C>A (n.442-6128C>A) | |
2 | g.233760906C>G | CA351067420 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6128C>G (n.856-6128C>G) c.868-6128C>G (n.868-6128C>G) c.862-6128C>G (n.862-6128C>G) c.619C>G (p.Leu207Val) c.61-6128C>G (n.61-6128C>G) c.442-6128C>G (n.442-6128C>G) | |
2 | g.233760906C>T | CA431960789 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6128C>T (n.856-6128C>T) c.868-6128C>T (n.868-6128C>T) c.862-6128C>T (n.862-6128C>T) c.619C>T (p.Leu207=) c.61-6128C>T (n.61-6128C>T) c.442-6128C>T (n.442-6128C>T) | |
2 | g.233760907T>A | CA351067422 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6127T>A (n.856-6127T>A) c.868-6127T>A (n.868-6127T>A) c.862-6127T>A (n.862-6127T>A) c.620T>A (p.Leu207Gln) c.61-6127T>A (n.61-6127T>A) c.442-6127T>A (n.442-6127T>A) | gnomAD v4 |
2 | g.233760907T>C | CA351067429 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6127T>C (n.856-6127T>C) c.868-6127T>C (n.868-6127T>C) c.862-6127T>C (n.862-6127T>C) c.620T>C (p.Leu207Pro) c.61-6127T>C (n.61-6127T>C) c.442-6127T>C (n.442-6127T>C) | |
2 | g.233760907T>G | CA351067426 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6127T>G (n.856-6127T>G) c.868-6127T>G (n.868-6127T>G) c.862-6127T>G (n.862-6127T>G) c.620T>G (p.Leu207Arg) c.61-6127T>G (n.61-6127T>G) c.442-6127T>G (n.442-6127T>G) | |
2 | g.233760908G>A | CA431960791 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6126G>A (n.856-6126G>A) c.868-6126G>A (n.868-6126G>A) c.862-6126G>A (n.862-6126G>A) c.621G>A (p.Leu207=) c.61-6126G>A (n.61-6126G>A) c.442-6126G>A (n.442-6126G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760908G>C | CA431960790 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6126G>C (n.856-6126G>C) c.868-6126G>C (n.868-6126G>C) c.862-6126G>C (n.862-6126G>C) c.621G>C (p.Leu207=) c.61-6126G>C (n.61-6126G>C) c.442-6126G>C (n.442-6126G>C) | |
2 | g.233760908G= | CA1335889669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6126G= (n.856-6126G=) c.868-6126G= (n.868-6126G=) c.862-6126G= (n.862-6126G=) c.621G= (p.Leu207=) c.61-6126G= (n.61-6126G=) c.442-6126G= (n.442-6126G=) | |
2 | g.233760908G>T | CA431960792 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6126G>T (n.856-6126G>T) c.868-6126G>T (n.868-6126G>T) c.862-6126G>T (n.862-6126G>T) c.621G>T (p.Leu207=) c.61-6126G>T (n.61-6126G>T) c.442-6126G>T (n.442-6126G>T) | |
2 | g.233760909C>A | CA351067432 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6125C>A (n.856-6125C>A) c.868-6125C>A (n.868-6125C>A) c.862-6125C>A (n.862-6125C>A) c.622C>A (p.Gln208Lys) c.61-6125C>A (n.61-6125C>A) c.442-6125C>A (n.442-6125C>A) | |
2 | g.233760909C>G | CA351067433 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6125C>G (n.856-6125C>G) c.868-6125C>G (n.868-6125C>G) c.862-6125C>G (n.862-6125C>G) c.622C>G (p.Gln208Glu) c.61-6125C>G (n.61-6125C>G) c.442-6125C>G (n.442-6125C>G) | |
2 | g.233760909C>T | CA351067430 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6125C>T (n.856-6125C>T) c.868-6125C>T (n.868-6125C>T) c.862-6125C>T (n.862-6125C>T) c.622C>T (p.Gln208Ter) c.61-6125C>T (n.61-6125C>T) c.442-6125C>T (n.442-6125C>T) | dbSNP |
2 | g.233760909_233760912dup | CA2179855 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6125_856-6122dup (n.856-6125_856-6122dup) c.868-6125_868-6122dup (n.868-6125_868-6122dup) c.862-6125_862-6122dup (n.862-6125_862-6122dup) c.622_625dup (p.Arg209ProfsTer?) c.61-6125_61-6122dup (n.61-6125_61-6122dup) c.442-6125_442-6122dup (n.442-6125_442-6122dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760910A= | CA1335889675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6124A= (n.856-6124A=) c.868-6124A= (n.868-6124A=) c.862-6124A= (n.862-6124A=) c.623A= (p.Gln208=) c.61-6124A= (n.61-6124A=) c.442-6124A= (n.442-6124A=) | |
2 | g.233760910A>C | CA351067439 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6124A>C (n.856-6124A>C) c.868-6124A>C (n.868-6124A>C) c.862-6124A>C (n.862-6124A>C) c.623A>C (p.Gln208Pro) c.61-6124A>C (n.61-6124A>C) c.442-6124A>C (n.442-6124A>C) | |
2 | g.233760910A>G | CA351067436 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6124A>G (n.856-6124A>G) c.868-6124A>G (n.868-6124A>G) c.862-6124A>G (n.862-6124A>G) c.623A>G (p.Gln208Arg) c.61-6124A>G (n.61-6124A>G) c.442-6124A>G (n.442-6124A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760910A>T | CA351067437 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6124A>T (n.856-6124A>T) c.868-6124A>T (n.868-6124A>T) c.862-6124A>T (n.862-6124A>T) c.623A>T (p.Gln208Leu) c.61-6124A>T (n.61-6124A>T) c.442-6124A>T (n.442-6124A>T) | |
2 | g.233760911G>A | CA431960793 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6123G>A (n.856-6123G>A) c.868-6123G>A (n.868-6123G>A) c.862-6123G>A (n.862-6123G>A) c.624G>A (p.Gln208=) c.61-6123G>A (n.61-6123G>A) c.442-6123G>A (n.442-6123G>A) | |
2 | g.233760911G>C | CA351067440 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6123G>C (n.856-6123G>C) c.868-6123G>C (n.868-6123G>C) c.862-6123G>C (n.862-6123G>C) c.624G>C (p.Gln208His) c.61-6123G>C (n.61-6123G>C) c.442-6123G>C (n.442-6123G>C) | |
2 | g.233760911G>T | CA351067441 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6123G>T (n.856-6123G>T) c.868-6123G>T (n.868-6123G>T) c.862-6123G>T (n.862-6123G>T) c.624G>T (p.Gln208His) c.61-6123G>T (n.61-6123G>T) c.442-6123G>T (n.442-6123G>T) | |
2 | g.233760912C>A | CA2179858 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6122C>A (n.856-6122C>A) c.868-6122C>A (n.868-6122C>A) c.862-6122C>A (n.862-6122C>A) c.625C>A (p.Arg209=) c.61-6122C>A (n.61-6122C>A) c.442-6122C>A (n.442-6122C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760912C= | CA1335889678 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6122C= (n.856-6122C=) c.868-6122C= (n.868-6122C=) c.862-6122C= (n.862-6122C=) c.625C= (p.Arg209=) c.61-6122C= (n.61-6122C=) c.442-6122C= (n.442-6122C=) | |
2 | g.233760912C>G | CA2179857 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6122C>G (n.856-6122C>G) c.868-6122C>G (n.868-6122C>G) c.862-6122C>G (n.862-6122C>G) c.625C>G (p.Arg209Gly) c.61-6122C>G (n.61-6122C>G) c.442-6122C>G (n.442-6122C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760912C>T | CA2179856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6122C>T (n.856-6122C>T) c.868-6122C>T (n.868-6122C>T) c.862-6122C>T (n.862-6122C>T) c.625C>T (p.Arg209Trp) c.61-6122C>T (n.61-6122C>T) c.442-6122C>T (n.442-6122C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760913G>A | CA2179859 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6121G>A (n.856-6121G>A) c.868-6121G>A (n.868-6121G>A) c.862-6121G>A (n.862-6121G>A) c.626G>A (p.Arg209Gln) c.61-6121G>A (n.61-6121G>A) c.442-6121G>A (n.442-6121G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.233760913G>C | CA67590213 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6121G>C (n.856-6121G>C) c.868-6121G>C (n.868-6121G>C) c.862-6121G>C (n.862-6121G>C) c.626G>C (p.Arg209Pro) c.61-6121G>C (n.61-6121G>C) c.442-6121G>C (n.442-6121G>C) | dbSNP |
2 | g.233760913G= | CA1335889686 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6121G= (n.856-6121G=) c.868-6121G= (n.868-6121G=) c.862-6121G= (n.862-6121G=) c.626G= (p.Arg209=) c.61-6121G= (n.61-6121G=) c.442-6121G= (n.442-6121G=) | |
2 | g.233760913G>T | CA351067445 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6121G>T (n.856-6121G>T) c.868-6121G>T (n.868-6121G>T) c.862-6121G>T (n.862-6121G>T) c.626G>T (p.Arg209Leu) c.61-6121G>T (n.61-6121G>T) c.442-6121G>T (n.442-6121G>T) | COSMIC COSMIC |
2 | g.233760914_233760915del | CA2577284382 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6120_856-6119del (n.856-6120_856-6119del) c.868-6120_868-6119del (n.868-6120_868-6119del) c.862-6120_862-6119del (n.862-6120_862-6119del) c.627_628del (p.Val210GlufsTer?) c.61-6120_61-6119del (n.61-6120_61-6119del) c.442-6120_442-6119del (n.442-6120_442-6119del) | |
2 | g.233760914G>A | CA431960795 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6120G>A (n.856-6120G>A) c.868-6120G>A (n.868-6120G>A) c.862-6120G>A (n.862-6120G>A) c.627G>A (p.Arg209=) c.61-6120G>A (n.61-6120G>A) c.442-6120G>A (n.442-6120G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760914G>C | CA431960796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6120G>C (n.856-6120G>C) c.868-6120G>C (n.868-6120G>C) c.862-6120G>C (n.862-6120G>C) c.627G>C (p.Arg209=) c.61-6120G>C (n.61-6120G>C) c.442-6120G>C (n.442-6120G>C) | |
2 | g.233760914G= | CA1335889689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6120G= (n.856-6120G=) c.868-6120G= (n.868-6120G=) c.862-6120G= (n.862-6120G=) c.627G= (p.Arg209=) c.61-6120G= (n.61-6120G=) c.442-6120G= (n.442-6120G=) | |
2 | g.233760914G>T | CA431960794 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6120G>T (n.856-6120G>T) c.868-6120G>T (n.868-6120G>T) c.862-6120G>T (n.862-6120G>T) c.627G>T (p.Arg209=) c.61-6120G>T (n.61-6120G>T) c.442-6120G>T (n.442-6120G>T) | |
2 | g.233760915G>A | CA2179860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6119G>A (n.856-6119G>A) c.868-6119G>A (n.868-6119G>A) c.862-6119G>A (n.862-6119G>A) c.628G>A (p.Val210Met) c.61-6119G>A (n.61-6119G>A) c.442-6119G>A (n.442-6119G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760915G>C | CA351067449 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6119G>C (n.856-6119G>C) c.868-6119G>C (n.868-6119G>C) c.862-6119G>C (n.862-6119G>C) c.628G>C (p.Val210Leu) c.61-6119G>C (n.61-6119G>C) c.442-6119G>C (n.442-6119G>C) | dbSNP |
2 | g.233760915G= | CA1335889691 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6119G= (n.856-6119G=) c.868-6119G= (n.868-6119G=) c.862-6119G= (n.862-6119G=) c.628G= (p.Val210=) c.61-6119G= (n.61-6119G=) c.442-6119G= (n.442-6119G=) | |
2 | g.233760915G>T | CA351067447 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6119G>T (n.856-6119G>T) c.868-6119G>T (n.868-6119G>T) c.862-6119G>T (n.862-6119G>T) c.628G>T (p.Val210Leu) c.61-6119G>T (n.61-6119G>T) c.442-6119G>T (n.442-6119G>T) | COSMIC |
2 | g.233760916del | CA2663717549 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6118del (n.856-6118del) c.868-6118del (n.868-6118del) c.862-6118del (n.862-6118del) c.629del (p.Val210GlyfsTer?) c.61-6118del (n.61-6118del) c.442-6118del (n.442-6118del) | gnomAD v4 |
2 | g.233760916T>A | CA351067452 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6118T>A (n.856-6118T>A) c.868-6118T>A (n.868-6118T>A) c.862-6118T>A (n.862-6118T>A) c.629T>A (p.Val210Glu) c.61-6118T>A (n.61-6118T>A) c.442-6118T>A (n.442-6118T>A) | |
2 | g.233760916T>C | CA351067457 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6118T>C (n.856-6118T>C) c.868-6118T>C (n.868-6118T>C) c.862-6118T>C (n.862-6118T>C) c.629T>C (p.Val210Ala) c.61-6118T>C (n.61-6118T>C) c.442-6118T>C (n.442-6118T>C) | |
2 | g.233760916T>G | CA351067458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6118T>G (n.856-6118T>G) c.868-6118T>G (n.868-6118T>G) c.862-6118T>G (n.862-6118T>G) c.629T>G (p.Val210Gly) c.61-6118T>G (n.61-6118T>G) c.442-6118T>G (n.442-6118T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760916T= | CA1335889692 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6118T= (n.856-6118T=) c.868-6118T= (n.868-6118T=) c.862-6118T= (n.862-6118T=) c.629T= (p.Val210=) c.61-6118T= (n.61-6118T=) c.442-6118T= (n.442-6118T=) | |
2 | g.233760917G>A | CA431960797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6117G>A (n.856-6117G>A) c.868-6117G>A (n.868-6117G>A) c.862-6117G>A (n.862-6117G>A) c.630G>A (p.Val210=) c.61-6117G>A (n.61-6117G>A) c.442-6117G>A (n.442-6117G>A) | |
2 | g.233760917G>C | CA431960799 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6117G>C (n.856-6117G>C) c.868-6117G>C (n.868-6117G>C) c.862-6117G>C (n.862-6117G>C) c.630G>C (p.Val210=) c.61-6117G>C (n.61-6117G>C) c.442-6117G>C (n.442-6117G>C) | |
2 | g.233760917G>T | CA431960798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6117G>T (n.856-6117G>T) c.868-6117G>T (n.868-6117G>T) c.862-6117G>T (n.862-6117G>T) c.630G>T (p.Val210=) c.61-6117G>T (n.61-6117G>T) c.442-6117G>T (n.442-6117G>T) | |
2 | g.233760918A>C | CA351067460 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6116A>C (n.856-6116A>C) c.868-6116A>C (n.868-6116A>C) c.862-6116A>C (n.862-6116A>C) c.631A>C (p.Lys211Gln) c.61-6116A>C (n.61-6116A>C) c.442-6116A>C (n.442-6116A>C) | |
2 | g.233760918A>G | CA351067462 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6116A>G (n.856-6116A>G) c.868-6116A>G (n.868-6116A>G) c.862-6116A>G (n.862-6116A>G) c.631A>G (p.Lys211Glu) c.61-6116A>G (n.61-6116A>G) c.442-6116A>G (n.442-6116A>G) | |
2 | g.233760918A>T | CA351067464 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6116A>T (n.856-6116A>T) c.868-6116A>T (n.868-6116A>T) c.862-6116A>T (n.862-6116A>T) c.631A>T (p.Lys211Ter) c.61-6116A>T (n.61-6116A>T) c.442-6116A>T (n.442-6116A>T) | |
2 | g.233760919A>C | CA351067466 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6115A>C (n.856-6115A>C) c.868-6115A>C (n.868-6115A>C) c.862-6115A>C (n.862-6115A>C) c.632A>C (p.Lys211Thr) c.61-6115A>C (n.61-6115A>C) c.442-6115A>C (n.442-6115A>C) | |
2 | g.233760919A>G | CA351067468 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6115A>G (n.856-6115A>G) c.868-6115A>G (n.868-6115A>G) c.862-6115A>G (n.862-6115A>G) c.632A>G (p.Lys211Arg) c.61-6115A>G (n.61-6115A>G) c.442-6115A>G (n.442-6115A>G) | |
2 | g.233760919A>T | CA351067469 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6115A>T (n.856-6115A>T) c.868-6115A>T (n.868-6115A>T) c.862-6115A>T (n.862-6115A>T) c.632A>T (p.Lys211Met) c.61-6115A>T (n.61-6115A>T) c.442-6115A>T (n.442-6115A>T) | |
2 | g.233760920G>A | CA431960800 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6114G>A (n.856-6114G>A) c.868-6114G>A (n.868-6114G>A) c.862-6114G>A (n.862-6114G>A) c.633G>A (p.Lys211=) c.61-6114G>A (n.61-6114G>A) c.442-6114G>A (n.442-6114G>A) | |
2 | g.233760920G>C | CA351067470 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6114G>C (n.856-6114G>C) c.868-6114G>C (n.868-6114G>C) c.862-6114G>C (n.862-6114G>C) c.633G>C (p.Lys211Asn) c.61-6114G>C (n.61-6114G>C) c.442-6114G>C (n.442-6114G>C) | |
2 | g.233760920G>T | CA351067471 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6114G>T (n.856-6114G>T) c.868-6114G>T (n.868-6114G>T) c.862-6114G>T (n.862-6114G>T) c.633G>T (p.Lys211Asn) c.61-6114G>T (n.61-6114G>T) c.442-6114G>T (n.442-6114G>T) | |
2 | g.233760921A>C | CA351067474 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6113A>C (n.856-6113A>C) c.868-6113A>C (n.868-6113A>C) c.862-6113A>C (n.862-6113A>C) c.634A>C (p.Asn212His) c.61-6113A>C (n.61-6113A>C) c.442-6113A>C (n.442-6113A>C) | |
2 | g.233760921A>G | CA351067475 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6113A>G (n.856-6113A>G) c.868-6113A>G (n.868-6113A>G) c.862-6113A>G (n.862-6113A>G) c.634A>G (p.Asn212Asp) c.61-6113A>G (n.61-6113A>G) c.442-6113A>G (n.442-6113A>G) | |
2 | g.233760921A>T | CA351067472 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6113A>T (n.856-6113A>T) c.868-6113A>T (n.868-6113A>T) c.862-6113A>T (n.862-6113A>T) c.634A>T (p.Asn212Tyr) c.61-6113A>T (n.61-6113A>T) c.442-6113A>T (n.442-6113A>T) | |
2 | g.233760922A>C | CA351067477 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6112A>C (n.856-6112A>C) c.868-6112A>C (n.868-6112A>C) c.862-6112A>C (n.862-6112A>C) c.635A>C (p.Asn212Thr) c.61-6112A>C (n.61-6112A>C) c.442-6112A>C (n.442-6112A>C) | |
2 | g.233760922A>G | CA351067479 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6112A>G (n.856-6112A>G) c.868-6112A>G (n.868-6112A>G) c.862-6112A>G (n.862-6112A>G) c.635A>G (p.Asn212Ser) c.61-6112A>G (n.61-6112A>G) c.442-6112A>G (n.442-6112A>G) | |
2 | g.233760922A>T | CA351067481 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6112A>T (n.856-6112A>T) c.868-6112A>T (n.868-6112A>T) c.862-6112A>T (n.862-6112A>T) c.635A>T (p.Asn212Ile) c.61-6112A>T (n.61-6112A>T) c.442-6112A>T (n.442-6112A>T) | |
2 | g.233760923C>A | CA351067484 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6111C>A (n.856-6111C>A) c.868-6111C>A (n.868-6111C>A) c.862-6111C>A (n.862-6111C>A) c.636C>A (p.Asn212Lys) c.61-6111C>A (n.61-6111C>A) c.442-6111C>A (n.442-6111C>A) | |
2 | g.233760923C= | CA1335889695 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6111C= (n.856-6111C=) c.868-6111C= (n.868-6111C=) c.862-6111C= (n.862-6111C=) c.636C= (p.Asn212=) c.61-6111C= (n.61-6111C=) c.442-6111C= (n.442-6111C=) | |
2 | g.233760923C>G | CA351067485 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6111C>G (n.856-6111C>G) c.868-6111C>G (n.868-6111C>G) c.862-6111C>G (n.862-6111C>G) c.636C>G (p.Asn212Lys) c.61-6111C>G (n.61-6111C>G) c.442-6111C>G (n.442-6111C>G) | gnomAD v4 |
2 | g.233760923C>T | CA67590224 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6111C>T (n.856-6111C>T) c.868-6111C>T (n.868-6111C>T) c.862-6111C>T (n.862-6111C>T) c.636C>T (p.Asn212=) c.61-6111C>T (n.61-6111C>T) c.442-6111C>T (n.442-6111C>T) | dbSNP |
2 | g.233760924A>C | CA351067488 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6110A>C (n.856-6110A>C) c.868-6110A>C (n.868-6110A>C) c.862-6110A>C (n.862-6110A>C) c.637A>C (p.Met213Leu) c.61-6110A>C (n.61-6110A>C) c.442-6110A>C (n.442-6110A>C) | |
2 | g.233760924A>G | CA351067490 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6110A>G (n.856-6110A>G) c.868-6110A>G (n.868-6110A>G) c.862-6110A>G (n.862-6110A>G) c.637A>G (p.Met213Val) c.61-6110A>G (n.61-6110A>G) c.442-6110A>G (n.442-6110A>G) | |
2 | g.233760924A>T | CA351067491 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6110A>T (n.856-6110A>T) c.868-6110A>T (n.868-6110A>T) c.862-6110A>T (n.862-6110A>T) c.637A>T (p.Met213Leu) c.61-6110A>T (n.61-6110A>T) c.442-6110A>T (n.442-6110A>T) | |
2 | g.233760925T>A | CA351067493 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6109T>A (n.856-6109T>A) c.868-6109T>A (n.868-6109T>A) c.862-6109T>A (n.862-6109T>A) c.638T>A (p.Met213Lys) c.61-6109T>A (n.61-6109T>A) c.442-6109T>A (n.442-6109T>A) | |
2 | g.233760925T>C | CA351067495 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6109T>C (n.856-6109T>C) c.868-6109T>C (n.868-6109T>C) c.862-6109T>C (n.862-6109T>C) c.638T>C (p.Met213Thr) c.61-6109T>C (n.61-6109T>C) c.442-6109T>C (n.442-6109T>C) | |
2 | g.233760925T>G | CA351067496 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6109T>G (n.856-6109T>G) c.868-6109T>G (n.868-6109T>G) c.862-6109T>G (n.862-6109T>G) c.638T>G (p.Met213Arg) c.61-6109T>G (n.61-6109T>G) c.442-6109T>G (n.442-6109T>G) | |
2 | g.233760926G>A | CA351067503 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6108G>A (n.856-6108G>A) c.868-6108G>A (n.868-6108G>A) c.862-6108G>A (n.862-6108G>A) c.639G>A (p.Met213Ile) c.61-6108G>A (n.61-6108G>A) c.442-6108G>A (n.442-6108G>A) | |
2 | g.233760926G>C | CA351067497 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6108G>C (n.856-6108G>C) c.868-6108G>C (n.868-6108G>C) c.862-6108G>C (n.862-6108G>C) c.639G>C (p.Met213Ile) c.61-6108G>C (n.61-6108G>C) c.442-6108G>C (n.442-6108G>C) | |
2 | g.233760926G>T | CA351067501 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6108G>T (n.856-6108G>T) c.868-6108G>T (n.868-6108G>T) c.862-6108G>T (n.862-6108G>T) c.639G>T (p.Met213Ile) c.61-6108G>T (n.61-6108G>T) c.442-6108G>T (n.442-6108G>T) | |
2 | g.233760927C>A | CA351067505 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6107C>A (n.856-6107C>A) c.868-6107C>A (n.868-6107C>A) c.862-6107C>A (n.862-6107C>A) c.640C>A (p.Leu214Ile) c.61-6107C>A (n.61-6107C>A) c.442-6107C>A (n.442-6107C>A) | |
2 | g.233760927C= | CA1335889697 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6107C= (n.856-6107C=) c.868-6107C= (n.868-6107C=) c.862-6107C= (n.862-6107C=) c.640C= (p.Leu214=) c.61-6107C= (n.61-6107C=) c.442-6107C= (n.442-6107C=) | |
2 | g.233760927C>G | CA351067506 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6107C>G (n.856-6107C>G) c.868-6107C>G (n.868-6107C>G) c.862-6107C>G (n.862-6107C>G) c.640C>G (p.Leu214Val) c.61-6107C>G (n.61-6107C>G) c.442-6107C>G (n.442-6107C>G) | |
2 | g.233760927C>T | CA351067507 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6107C>T (n.856-6107C>T) c.868-6107C>T (n.868-6107C>T) c.862-6107C>T (n.862-6107C>T) c.640C>T (p.Leu214Phe) c.61-6107C>T (n.61-6107C>T) c.442-6107C>T (n.442-6107C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760928T>A | CA351067509 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6106T>A (n.856-6106T>A) c.868-6106T>A (n.868-6106T>A) c.862-6106T>A (n.862-6106T>A) c.641T>A (p.Leu214His) c.61-6106T>A (n.61-6106T>A) c.442-6106T>A (n.442-6106T>A) | dbSNP |
2 | g.233760928T>C | CA351067510 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6106T>C (n.856-6106T>C) c.868-6106T>C (n.868-6106T>C) c.862-6106T>C (n.862-6106T>C) c.641T>C (p.Leu214Pro) c.61-6106T>C (n.61-6106T>C) c.442-6106T>C (n.442-6106T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760928T>G | CA351067512 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6106T>G (n.856-6106T>G) c.868-6106T>G (n.868-6106T>G) c.862-6106T>G (n.862-6106T>G) c.641T>G (p.Leu214Arg) c.61-6106T>G (n.61-6106T>G) c.442-6106T>G (n.442-6106T>G) | |
2 | g.233760928T= | CA1335889700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6106T= (n.856-6106T=) c.868-6106T= (n.868-6106T=) c.862-6106T= (n.862-6106T=) c.641T= (p.Leu214=) c.61-6106T= (n.61-6106T=) c.442-6106T= (n.442-6106T=) | |
2 | g.233760929C>A | CA431960802 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6105C>A (n.856-6105C>A) c.868-6105C>A (n.868-6105C>A) c.862-6105C>A (n.862-6105C>A) c.642C>A (p.Leu214=) c.61-6105C>A (n.61-6105C>A) c.442-6105C>A (n.442-6105C>A) | |
2 | g.233760929C>G | CA431960801 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6105C>G (n.856-6105C>G) c.868-6105C>G (n.868-6105C>G) c.862-6105C>G (n.862-6105C>G) c.642C>G (p.Leu214=) c.61-6105C>G (n.61-6105C>G) c.442-6105C>G (n.442-6105C>G) | |
2 | g.233760929C>T | CA431960803 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6105C>T (n.856-6105C>T) c.868-6105C>T (n.868-6105C>T) c.862-6105C>T (n.862-6105C>T) c.642C>T (p.Leu214=) c.61-6105C>T (n.61-6105C>T) c.442-6105C>T (n.442-6105C>T) | |
2 | g.233760930A= | CA1335889702 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6104A= (n.856-6104A=) c.868-6104A= (n.868-6104A=) c.862-6104A= (n.862-6104A=) c.643A= (p.Ile215=) c.61-6104A= (n.61-6104A=) c.442-6104A= (n.442-6104A=) | |
2 | g.233760930A>C | CA351067514 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6104A>C (n.856-6104A>C) c.868-6104A>C (n.868-6104A>C) c.862-6104A>C (n.862-6104A>C) c.643A>C (p.Ile215Leu) c.61-6104A>C (n.61-6104A>C) c.442-6104A>C (n.442-6104A>C) | |
2 | g.233760930A>G | CA2179861 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6104A>G (n.856-6104A>G) c.868-6104A>G (n.868-6104A>G) c.862-6104A>G (n.862-6104A>G) c.643A>G (p.Ile215Val) c.61-6104A>G (n.61-6104A>G) c.442-6104A>G (n.442-6104A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760930A>T | CA351067517 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6104A>T (n.856-6104A>T) c.868-6104A>T (n.868-6104A>T) c.862-6104A>T (n.862-6104A>T) c.643A>T (p.Ile215Phe) c.61-6104A>T (n.61-6104A>T) c.442-6104A>T (n.442-6104A>T) | gnomAD v4 |
2 | g.233760931T>A | CA351067520 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6103T>A (n.856-6103T>A) c.868-6103T>A (n.868-6103T>A) c.862-6103T>A (n.862-6103T>A) c.644T>A (p.Ile215Asn) c.61-6103T>A (n.61-6103T>A) c.442-6103T>A (n.442-6103T>A) | |
2 | g.233760931T>C | CA351067523 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6103T>C (n.856-6103T>C) c.868-6103T>C (n.868-6103T>C) c.862-6103T>C (n.862-6103T>C) c.644T>C (p.Ile215Thr) c.61-6103T>C (n.61-6103T>C) c.442-6103T>C (n.442-6103T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760931T>G | CA351067525 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6103T>G (n.856-6103T>G) c.868-6103T>G (n.868-6103T>G) c.862-6103T>G (n.862-6103T>G) c.644T>G (p.Ile215Ser) c.61-6103T>G (n.61-6103T>G) c.442-6103T>G (n.442-6103T>G) | |
2 | g.233760931T= | CA1335889707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6103T= (n.856-6103T=) c.868-6103T= (n.868-6103T=) c.862-6103T= (n.862-6103T=) c.644T= (p.Ile215=) c.61-6103T= (n.61-6103T=) c.442-6103T= (n.442-6103T=) | |
2 | g.233760932T>A | CA431960804 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6102T>A (n.856-6102T>A) c.868-6102T>A (n.868-6102T>A) c.862-6102T>A (n.862-6102T>A) c.645T>A (p.Ile215=) c.61-6102T>A (n.61-6102T>A) c.442-6102T>A (n.442-6102T>A) | |
2 | g.233760932T>C | CA431960805 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6102T>C (n.856-6102T>C) c.868-6102T>C (n.868-6102T>C) c.862-6102T>C (n.862-6102T>C) c.645T>C (p.Ile215=) c.61-6102T>C (n.61-6102T>C) c.442-6102T>C (n.442-6102T>C) | gnomAD v4 |
2 | g.233760932T>G | CA351067528 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6102T>G (n.856-6102T>G) c.868-6102T>G (n.868-6102T>G) c.862-6102T>G (n.862-6102T>G) c.645T>G (p.Ile215Met) c.61-6102T>G (n.61-6102T>G) c.442-6102T>G (n.442-6102T>G) | |
2 | g.233760933G>A | CA351067538 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6101G>A (n.856-6101G>A) c.868-6101G>A (n.868-6101G>A) c.862-6101G>A (n.862-6101G>A) c.646G>A (p.Ala216Thr) c.61-6101G>A (n.61-6101G>A) c.442-6101G>A (n.442-6101G>A) | dbSNP gnomAD v4 |
2 | g.233760933G>C | CA351067537 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6101G>C (n.856-6101G>C) c.868-6101G>C (n.868-6101G>C) c.862-6101G>C (n.862-6101G>C) c.646G>C (p.Ala216Pro) c.61-6101G>C (n.61-6101G>C) c.442-6101G>C (n.442-6101G>C) | |
2 | g.233760933G= | CA1335889709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6101G= (n.856-6101G=) c.868-6101G= (n.868-6101G=) c.862-6101G= (n.862-6101G=) c.646G= (p.Ala216=) c.61-6101G= (n.61-6101G=) c.442-6101G= (n.442-6101G=) | |
2 | g.233760933G>T | CA351067536 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6101G>T (n.856-6101G>T) c.868-6101G>T (n.868-6101G>T) c.862-6101G>T (n.862-6101G>T) c.646G>T (p.Ala216Ser) c.61-6101G>T (n.61-6101G>T) c.442-6101G>T (n.442-6101G>T) | |
2 | g.233760934C>A | CA67590268 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6100C>A (n.856-6100C>A) c.868-6100C>A (n.868-6100C>A) c.862-6100C>A (n.862-6100C>A) c.647C>A (p.Ala216Asp) c.61-6100C>A (n.61-6100C>A) c.442-6100C>A (n.442-6100C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760934C= | CA1335889711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6100C= (n.856-6100C=) c.868-6100C= (n.868-6100C=) c.862-6100C= (n.862-6100C=) c.647C= (p.Ala216=) c.61-6100C= (n.61-6100C=) c.442-6100C= (n.442-6100C=) | |
2 | g.233760934C>G | CA351067540 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6100C>G (n.856-6100C>G) c.868-6100C>G (n.868-6100C>G) c.862-6100C>G (n.862-6100C>G) c.647C>G (p.Ala216Gly) c.61-6100C>G (n.61-6100C>G) c.442-6100C>G (n.442-6100C>G) | |
2 | g.233760934C>T | CA351067551 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6100C>T (n.856-6100C>T) c.868-6100C>T (n.868-6100C>T) c.862-6100C>T (n.862-6100C>T) c.647C>T (p.Ala216Val) c.61-6100C>T (n.61-6100C>T) c.442-6100C>T (n.442-6100C>T) | dbSNP COSMIC |
2 | g.233760935C>A | CA431960808 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6099C>A (n.856-6099C>A) c.868-6099C>A (n.868-6099C>A) c.862-6099C>A (n.862-6099C>A) c.648C>A (p.Ala216=) c.61-6099C>A (n.61-6099C>A) c.442-6099C>A (n.442-6099C>A) | |
2 | g.233760935C= | CA1335889715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6099C= (n.856-6099C=) c.868-6099C= (n.868-6099C=) c.862-6099C= (n.862-6099C=) c.648C= (p.Ala216=) c.61-6099C= (n.61-6099C=) c.442-6099C= (n.442-6099C=) | |
2 | g.233760935C>G | CA431960806 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6099C>G (n.856-6099C>G) c.868-6099C>G (n.868-6099C>G) c.862-6099C>G (n.862-6099C>G) c.648C>G (p.Ala216=) c.61-6099C>G (n.61-6099C>G) c.442-6099C>G (n.442-6099C>G) | dbSNP |
2 | g.233760935C>T | CA431960807 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6099C>T (n.856-6099C>T) c.868-6099C>T (n.868-6099C>T) c.862-6099C>T (n.862-6099C>T) c.648C>T (p.Ala216=) c.61-6099C>T (n.61-6099C>T) c.442-6099C>T (n.442-6099C>T) | dbSNP COSMIC |
2 | g.233760936T>A | CA351067553 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6098T>A (n.856-6098T>A) c.868-6098T>A (n.868-6098T>A) c.862-6098T>A (n.862-6098T>A) c.649T>A (p.Phe217Ile) c.61-6098T>A (n.61-6098T>A) c.442-6098T>A (n.442-6098T>A) | |
2 | g.233760936T>C | CA351067556 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6098T>C (n.856-6098T>C) c.868-6098T>C (n.868-6098T>C) c.862-6098T>C (n.862-6098T>C) c.649T>C (p.Phe217Leu) c.61-6098T>C (n.61-6098T>C) c.442-6098T>C (n.442-6098T>C) | |
2 | g.233760936T>G | CA351067558 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6098T>G (n.856-6098T>G) c.868-6098T>G (n.868-6098T>G) c.862-6098T>G (n.862-6098T>G) c.649T>G (p.Phe217Val) c.61-6098T>G (n.61-6098T>G) c.442-6098T>G (n.442-6098T>G) | |
2 | g.233760939dup | CA2577284383 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6095dup (n.856-6095dup) c.868-6095dup (n.868-6095dup) c.862-6095dup (n.862-6095dup) c.652dup (p.Ser218PhefsTer?) c.61-6095dup (n.61-6095dup) c.442-6095dup (n.442-6095dup) | gnomAD v4 |
2 | g.233760937T>A | CA351067561 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6097T>A (n.856-6097T>A) c.868-6097T>A (n.868-6097T>A) c.862-6097T>A (n.862-6097T>A) c.650T>A (p.Phe217Tyr) c.61-6097T>A (n.61-6097T>A) c.442-6097T>A (n.442-6097T>A) | |
2 | g.233760937T>C | CA351067564 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6097T>C (n.856-6097T>C) c.868-6097T>C (n.868-6097T>C) c.862-6097T>C (n.862-6097T>C) c.650T>C (p.Phe217Ser) c.61-6097T>C (n.61-6097T>C) c.442-6097T>C (n.442-6097T>C) | |
2 | g.233760937T>G | CA351067565 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6097T>G (n.856-6097T>G) c.868-6097T>G (n.868-6097T>G) c.862-6097T>G (n.862-6097T>G) c.650T>G (p.Phe217Cys) c.61-6097T>G (n.61-6097T>G) c.442-6097T>G (n.442-6097T>G) | |
2 | g.233760938T>A | CA351067569 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6096T>A (n.856-6096T>A) c.868-6096T>A (n.868-6096T>A) c.862-6096T>A (n.862-6096T>A) c.651T>A (p.Phe217Leu) c.61-6096T>A (n.61-6096T>A) c.442-6096T>A (n.442-6096T>A) | |
2 | g.233760938T>C | CA431960809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6096T>C (n.856-6096T>C) c.868-6096T>C (n.868-6096T>C) c.862-6096T>C (n.862-6096T>C) c.651T>C (p.Phe217=) c.61-6096T>C (n.61-6096T>C) c.442-6096T>C (n.442-6096T>C) | |
2 | g.233760938T>G | CA351067566 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6096T>G (n.856-6096T>G) c.868-6096T>G (n.868-6096T>G) c.862-6096T>G (n.862-6096T>G) c.651T>G (p.Phe217Leu) c.61-6096T>G (n.61-6096T>G) c.442-6096T>G (n.442-6096T>G) | |
2 | g.233760939T>A | CA351067572 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6095T>A (n.856-6095T>A) c.868-6095T>A (n.868-6095T>A) c.862-6095T>A (n.862-6095T>A) c.652T>A (p.Ser218Thr) c.61-6095T>A (n.61-6095T>A) c.442-6095T>A (n.442-6095T>A) | |
2 | g.233760939T>C | CA351067577 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6095T>C (n.856-6095T>C) c.868-6095T>C (n.868-6095T>C) c.862-6095T>C (n.862-6095T>C) c.652T>C (p.Ser218Pro) c.61-6095T>C (n.61-6095T>C) c.442-6095T>C (n.442-6095T>C) | |
2 | g.233760939T>G | CA351067580 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6095T>G (n.856-6095T>G) c.868-6095T>G (n.868-6095T>G) c.862-6095T>G (n.862-6095T>G) c.652T>G (p.Ser218Ala) c.61-6095T>G (n.61-6095T>G) c.442-6095T>G (n.442-6095T>G) | |
2 | g.233760940C>A | CA351067587 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6094C>A (n.856-6094C>A) c.868-6094C>A (n.868-6094C>A) c.862-6094C>A (n.862-6094C>A) c.653C>A (p.Ser218Ter) c.61-6094C>A (n.61-6094C>A) c.442-6094C>A (n.442-6094C>A) | dbSNP |
2 | g.233760940C>G | CA351067590 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6094C>G (n.856-6094C>G) c.868-6094C>G (n.868-6094C>G) c.862-6094C>G (n.862-6094C>G) c.653C>G (p.Ser218Ter) c.61-6094C>G (n.61-6094C>G) c.442-6094C>G (n.442-6094C>G) | |
2 | g.233760940C>T | CA351067593 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6094C>T (n.856-6094C>T) c.868-6094C>T (n.868-6094C>T) c.862-6094C>T (n.862-6094C>T) c.653C>T (p.Ser218Leu) c.61-6094C>T (n.61-6094C>T) c.442-6094C>T (n.442-6094C>T) | COSMIC COSMIC |
2 | g.233760941A>C | CA431960810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6093A>C (n.856-6093A>C) c.868-6093A>C (n.868-6093A>C) c.862-6093A>C (n.862-6093A>C) c.654A>C (p.Ser218=) c.61-6093A>C (n.61-6093A>C) c.442-6093A>C (n.442-6093A>C) | |
2 | g.233760941A>G | CA431960812 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6093A>G (n.856-6093A>G) c.868-6093A>G (n.868-6093A>G) c.862-6093A>G (n.862-6093A>G) c.654A>G (p.Ser218=) c.61-6093A>G (n.61-6093A>G) c.442-6093A>G (n.442-6093A>G) | |
2 | g.233760941A>T | CA431960811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6093A>T (n.856-6093A>T) c.868-6093A>T (n.868-6093A>T) c.862-6093A>T (n.862-6093A>T) c.654A>T (p.Ser218=) c.61-6093A>T (n.61-6093A>T) c.442-6093A>T (n.442-6093A>T) | |
2 | g.233760942C>A | CA351067600 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6092C>A (n.856-6092C>A) c.868-6092C>A (n.868-6092C>A) c.862-6092C>A (n.862-6092C>A) c.655C>A (p.Gln219Lys) c.61-6092C>A (n.61-6092C>A) c.442-6092C>A (n.442-6092C>A) | |
2 | g.233760942C= | CA1335889717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6092C= (n.856-6092C=) c.868-6092C= (n.868-6092C=) c.862-6092C= (n.862-6092C=) c.655C= (p.Gln219=) c.61-6092C= (n.61-6092C=) c.442-6092C= (n.442-6092C=) | |
2 | g.233760942C>G | CA351067604 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6092C>G (n.856-6092C>G) c.868-6092C>G (n.868-6092C>G) c.862-6092C>G (n.862-6092C>G) c.655C>G (p.Gln219Glu) c.61-6092C>G (n.61-6092C>G) c.442-6092C>G (n.442-6092C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760942C>T | CA351067601 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6092C>T (n.856-6092C>T) c.868-6092C>T (n.868-6092C>T) c.862-6092C>T (n.862-6092C>T) c.655C>T (p.Gln219Ter) c.61-6092C>T (n.61-6092C>T) c.442-6092C>T (n.442-6092C>T) | gnomAD v4 |
2 | g.233760943A= | CA1335889721 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6091A= (n.856-6091A=) c.868-6091A= (n.868-6091A=) c.862-6091A= (n.862-6091A=) c.656A= (p.Gln219=) c.61-6091A= (n.61-6091A=) c.442-6091A= (n.442-6091A=) | |
2 | g.233760943A>C | CA351067606 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6091A>C (n.856-6091A>C) c.868-6091A>C (n.868-6091A>C) c.862-6091A>C (n.862-6091A>C) c.656A>C (p.Gln219Pro) c.61-6091A>C (n.61-6091A>C) c.442-6091A>C (n.442-6091A>C) | |
2 | g.233760943A>G | CA351067608 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6091A>G (n.856-6091A>G) c.868-6091A>G (n.868-6091A>G) c.862-6091A>G (n.862-6091A>G) c.656A>G (p.Gln219Arg) c.61-6091A>G (n.61-6091A>G) c.442-6091A>G (n.442-6091A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760943A>T | CA351067610 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6091A>T (n.856-6091A>T) c.868-6091A>T (n.868-6091A>T) c.862-6091A>T (n.862-6091A>T) c.656A>T (p.Gln219Leu) c.61-6091A>T (n.61-6091A>T) c.442-6091A>T (n.442-6091A>T) | |
2 | g.233760944G>A | CA431960813 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6090G>A (n.856-6090G>A) c.868-6090G>A (n.868-6090G>A) c.862-6090G>A (n.862-6090G>A) c.657G>A (p.Gln219=) c.61-6090G>A (n.61-6090G>A) c.442-6090G>A (n.442-6090G>A) | |
2 | g.233760944G>C | CA351067614 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6090G>C (n.856-6090G>C) c.868-6090G>C (n.868-6090G>C) c.862-6090G>C (n.862-6090G>C) c.657G>C (p.Gln219His) c.61-6090G>C (n.61-6090G>C) c.442-6090G>C (n.442-6090G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760944G= | CA1335889726 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6090G= (n.856-6090G=) c.868-6090G= (n.868-6090G=) c.862-6090G= (n.862-6090G=) c.657G= (p.Gln219=) c.61-6090G= (n.61-6090G=) c.442-6090G= (n.442-6090G=) | |
2 | g.233760944G>T | CA351067616 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6090G>T (n.856-6090G>T) c.868-6090G>T (n.868-6090G>T) c.862-6090G>T (n.862-6090G>T) c.657G>T (p.Gln219His) c.61-6090G>T (n.61-6090G>T) c.442-6090G>T (n.442-6090G>T) | |
2 | g.233760945A>C | CA351067619 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6089A>C (n.856-6089A>C) c.868-6089A>C (n.868-6089A>C) c.862-6089A>C (n.862-6089A>C) c.658A>C (p.Asn220His) c.61-6089A>C (n.61-6089A>C) c.442-6089A>C (n.442-6089A>C) | |
2 | g.233760945A>G | CA351067624 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6089A>G (n.856-6089A>G) c.868-6089A>G (n.868-6089A>G) c.862-6089A>G (n.862-6089A>G) c.658A>G (p.Asn220Asp) c.61-6089A>G (n.61-6089A>G) c.442-6089A>G (n.442-6089A>G) | |
2 | g.233760945A>T | CA351067627 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6089A>T (n.856-6089A>T) c.868-6089A>T (n.868-6089A>T) c.862-6089A>T (n.862-6089A>T) c.658A>T (p.Asn220Tyr) c.61-6089A>T (n.61-6089A>T) c.442-6089A>T (n.442-6089A>T) | |
2 | g.233760946A>C | CA351067629 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6088A>C (n.856-6088A>C) c.868-6088A>C (n.868-6088A>C) c.862-6088A>C (n.862-6088A>C) c.659A>C (p.Asn220Thr) c.61-6088A>C (n.61-6088A>C) c.442-6088A>C (n.442-6088A>C) | |
2 | g.233760946A>G | CA351067632 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6088A>G (n.856-6088A>G) c.868-6088A>G (n.868-6088A>G) c.862-6088A>G (n.862-6088A>G) c.659A>G (p.Asn220Ser) c.61-6088A>G (n.61-6088A>G) c.442-6088A>G (n.442-6088A>G) | |
2 | g.233760946A>T | CA351067636 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6088A>T (n.856-6088A>T) c.868-6088A>T (n.868-6088A>T) c.862-6088A>T (n.862-6088A>T) c.659A>T (p.Asn220Ile) c.61-6088A>T (n.61-6088A>T) c.442-6088A>T (n.442-6088A>T) | |
2 | g.233760947C>A | CA351067638 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6087C>A (n.856-6087C>A) c.868-6087C>A (n.868-6087C>A) c.862-6087C>A (n.862-6087C>A) c.660C>A (p.Asn220Lys) c.61-6087C>A (n.61-6087C>A) c.442-6087C>A (n.442-6087C>A) | |
2 | g.233760947C>G | CA351067641 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6087C>G (n.856-6087C>G) c.868-6087C>G (n.868-6087C>G) c.862-6087C>G (n.862-6087C>G) c.660C>G (p.Asn220Lys) c.61-6087C>G (n.61-6087C>G) c.442-6087C>G (n.442-6087C>G) | |
2 | g.233760947C>T | CA431960814 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6087C>T (n.856-6087C>T) c.868-6087C>T (n.868-6087C>T) c.862-6087C>T (n.862-6087C>T) c.660C>T (p.Asn220=) c.61-6087C>T (n.61-6087C>T) c.442-6087C>T (n.442-6087C>T) | |
2 | g.233760948T>A | CA351067644 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6086T>A (n.856-6086T>A) c.868-6086T>A (n.868-6086T>A) c.862-6086T>A (n.862-6086T>A) c.661T>A (p.Phe221Ile) c.61-6086T>A (n.61-6086T>A) c.442-6086T>A (n.442-6086T>A) | |
2 | g.233760948T>C | CA351067647 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6086T>C (n.856-6086T>C) c.868-6086T>C (n.868-6086T>C) c.862-6086T>C (n.862-6086T>C) c.661T>C (p.Phe221Leu) c.61-6086T>C (n.61-6086T>C) c.442-6086T>C (n.442-6086T>C) | |
2 | g.233760948T>G | CA2179862 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6086T>G (n.856-6086T>G) c.868-6086T>G (n.868-6086T>G) c.862-6086T>G (n.862-6086T>G) c.661T>G (p.Phe221Val) c.61-6086T>G (n.61-6086T>G) c.442-6086T>G (n.442-6086T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760948T= | CA1335889729 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6086T= (n.856-6086T=) c.868-6086T= (n.868-6086T=) c.862-6086T= (n.862-6086T=) c.661T= (p.Phe221=) c.61-6086T= (n.61-6086T=) c.442-6086T= (n.442-6086T=) | |
2 | g.233760949T>A | CA351067653 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6085T>A (n.856-6085T>A) c.868-6085T>A (n.868-6085T>A) c.862-6085T>A (n.862-6085T>A) c.662T>A (p.Phe221Tyr) c.61-6085T>A (n.61-6085T>A) c.442-6085T>A (n.442-6085T>A) | |
2 | g.233760949T>C | CA351067656 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6085T>C (n.856-6085T>C) c.868-6085T>C (n.868-6085T>C) c.862-6085T>C (n.862-6085T>C) c.662T>C (p.Phe221Ser) c.61-6085T>C (n.61-6085T>C) c.442-6085T>C (n.442-6085T>C) | |
2 | g.233760949T>G | CA351067660 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6085T>G (n.856-6085T>G) c.868-6085T>G (n.868-6085T>G) c.862-6085T>G (n.862-6085T>G) c.662T>G (p.Phe221Cys) c.61-6085T>G (n.61-6085T>G) c.442-6085T>G (n.442-6085T>G) | |
2 | g.233760950T>A | CA351067662 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6084T>A (n.856-6084T>A) c.868-6084T>A (n.868-6084T>A) c.862-6084T>A (n.862-6084T>A) c.663T>A (p.Phe221Leu) c.61-6084T>A (n.61-6084T>A) c.442-6084T>A (n.442-6084T>A) | |
2 | g.233760950T>C | CA431960815 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6084T>C (n.856-6084T>C) c.868-6084T>C (n.868-6084T>C) c.862-6084T>C (n.862-6084T>C) c.663T>C (p.Phe221=) c.61-6084T>C (n.61-6084T>C) c.442-6084T>C (n.442-6084T>C) | gnomAD v4 |
2 | g.233760950T>G | CA351067664 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6084T>G (n.856-6084T>G) c.868-6084T>G (n.868-6084T>G) c.862-6084T>G (n.862-6084T>G) c.663T>G (p.Phe221Leu) c.61-6084T>G (n.61-6084T>G) c.442-6084T>G (n.442-6084T>G) | |
2 | g.233760951C>A | CA351067666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6083C>A (n.856-6083C>A) c.868-6083C>A (n.868-6083C>A) c.862-6083C>A (n.862-6083C>A) c.664C>A (p.Leu222Met) c.61-6083C>A (n.61-6083C>A) c.442-6083C>A (n.442-6083C>A) | |
2 | g.233760951C>G | CA351067670 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6083C>G (n.856-6083C>G) c.868-6083C>G (n.868-6083C>G) c.862-6083C>G (n.862-6083C>G) c.664C>G (p.Leu222Val) c.61-6083C>G (n.61-6083C>G) c.442-6083C>G (n.442-6083C>G) | |
2 | g.233760951C>T | CA431960816 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6083C>T (n.856-6083C>T) c.868-6083C>T (n.868-6083C>T) c.862-6083C>T (n.862-6083C>T) c.664C>T (p.Leu222=) c.61-6083C>T (n.61-6083C>T) c.442-6083C>T (n.442-6083C>T) | |
2 | g.233760952T>A | CA351067674 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6082T>A (n.856-6082T>A) c.868-6082T>A (n.868-6082T>A) c.862-6082T>A (n.862-6082T>A) c.665T>A (p.Leu222Gln) c.61-6082T>A (n.61-6082T>A) c.442-6082T>A (n.442-6082T>A) | COSMIC COSMIC |
2 | g.233760952T>C | CA351067678 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6082T>C (n.856-6082T>C) c.868-6082T>C (n.868-6082T>C) c.862-6082T>C (n.862-6082T>C) c.665T>C (p.Leu222Pro) c.61-6082T>C (n.61-6082T>C) c.442-6082T>C (n.442-6082T>C) | |
2 | g.233760952T>G | CA351067682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6082T>G (n.856-6082T>G) c.868-6082T>G (n.868-6082T>G) c.862-6082T>G (n.862-6082T>G) c.665T>G (p.Leu222Arg) c.61-6082T>G (n.61-6082T>G) c.442-6082T>G (n.442-6082T>G) | |
2 | g.233760953G>A | CA431960817 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6081G>A (n.856-6081G>A) c.868-6081G>A (n.868-6081G>A) c.862-6081G>A (n.862-6081G>A) c.666G>A (p.Leu222=) c.61-6081G>A (n.61-6081G>A) c.442-6081G>A (n.442-6081G>A) | |
2 | g.233760953G>C | CA431960819 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6081G>C (n.856-6081G>C) c.868-6081G>C (n.868-6081G>C) c.862-6081G>C (n.862-6081G>C) c.666G>C (p.Leu222=) c.61-6081G>C (n.61-6081G>C) c.442-6081G>C (n.442-6081G>C) | |
2 | g.233760953G>T | CA431960818 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6081G>T (n.856-6081G>T) c.868-6081G>T (n.868-6081G>T) c.862-6081G>T (n.862-6081G>T) c.666G>T (p.Leu222=) c.61-6081G>T (n.61-6081G>T) c.442-6081G>T (n.442-6081G>T) | |
2 | g.233760954T>A | CA351067689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6080T>A (n.856-6080T>A) c.868-6080T>A (n.868-6080T>A) c.862-6080T>A (n.862-6080T>A) c.667T>A (p.Cys223Ser) c.61-6080T>A (n.61-6080T>A) c.442-6080T>A (n.442-6080T>A) | |
2 | g.233760954T>C | CA351067684 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6080T>C (n.856-6080T>C) c.868-6080T>C (n.868-6080T>C) c.862-6080T>C (n.862-6080T>C) c.667T>C (p.Cys223Arg) c.61-6080T>C (n.61-6080T>C) c.442-6080T>C (n.442-6080T>C) | |
2 | g.233760954T>G | CA351067688 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6080T>G (n.856-6080T>G) c.868-6080T>G (n.868-6080T>G) c.862-6080T>G (n.862-6080T>G) c.667T>G (p.Cys223Gly) c.61-6080T>G (n.61-6080T>G) c.442-6080T>G (n.442-6080T>G) | |
2 | g.233760955G>A | CA351067694 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6079G>A (n.856-6079G>A) c.868-6079G>A (n.868-6079G>A) c.862-6079G>A (n.862-6079G>A) c.668G>A (p.Cys223Tyr) c.61-6079G>A (n.61-6079G>A) c.442-6079G>A (n.442-6079G>A) | dbSNP |
2 | g.233760955G>C | CA351067697 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6079G>C (n.856-6079G>C) c.868-6079G>C (n.868-6079G>C) c.862-6079G>C (n.862-6079G>C) c.668G>C (p.Cys223Ser) c.61-6079G>C (n.61-6079G>C) c.442-6079G>C (n.442-6079G>C) | |
2 | g.233760955G>T | CA351067701 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6079G>T (n.856-6079G>T) c.868-6079G>T (n.868-6079G>T) c.862-6079G>T (n.862-6079G>T) c.668G>T (p.Cys223Phe) c.61-6079G>T (n.61-6079G>T) c.442-6079G>T (n.442-6079G>T) | |
2 | g.233760956C>A | CA351067705 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6078C>A (n.856-6078C>A) c.868-6078C>A (n.868-6078C>A) c.862-6078C>A (n.862-6078C>A) c.669C>A (p.Cys223Ter) c.61-6078C>A (n.61-6078C>A) c.442-6078C>A (n.442-6078C>A) | dbSNP |
2 | g.233760956C= | CA1335889735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6078C= (n.856-6078C=) c.868-6078C= (n.868-6078C=) c.862-6078C= (n.862-6078C=) c.669C= (p.Cys223=) c.61-6078C= (n.61-6078C=) c.442-6078C= (n.442-6078C=) | |
2 | g.233760956C>G | CA351067709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6078C>G (n.856-6078C>G) c.868-6078C>G (n.868-6078C>G) c.862-6078C>G (n.862-6078C>G) c.669C>G (p.Cys223Trp) c.61-6078C>G (n.61-6078C>G) c.442-6078C>G (n.442-6078C>G) | |
2 | g.233760956C>T | CA2179863 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6078C>T (n.856-6078C>T) c.868-6078C>T (n.868-6078C>T) c.862-6078C>T (n.862-6078C>T) c.669C>T (p.Cys223=) c.61-6078C>T (n.61-6078C>T) c.442-6078C>T (n.442-6078C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.233760957G>A | CA2179864 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6077G>A (n.856-6077G>A) c.868-6077G>A (n.868-6077G>A) c.862-6077G>A (n.862-6077G>A) c.670G>A (p.Asp224Asn) c.61-6077G>A (n.61-6077G>A) c.442-6077G>A (n.442-6077G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.233760957G>C | CA351067715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6077G>C (n.856-6077G>C) c.868-6077G>C (n.868-6077G>C) c.862-6077G>C (n.862-6077G>C) c.670G>C (p.Asp224His) c.61-6077G>C (n.61-6077G>C) c.442-6077G>C (n.442-6077G>C) | dbSNP |
2 | g.233760957G= | CA1335889747 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6077G= (n.856-6077G=) c.868-6077G= (n.868-6077G=) c.862-6077G= (n.862-6077G=) c.670G= (p.Asp224=) c.61-6077G= (n.61-6077G=) c.442-6077G= (n.442-6077G=) | |
2 | g.233760957G>T | CA351067718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6077G>T (n.856-6077G>T) c.868-6077G>T (n.868-6077G>T) c.862-6077G>T (n.862-6077G>T) c.670G>T (p.Asp224Tyr) c.61-6077G>T (n.61-6077G>T) c.442-6077G>T (n.442-6077G>T) | |
2 | g.233760958A= | CA1335889751 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6076A= (n.856-6076A=) c.868-6076A= (n.868-6076A=) c.862-6076A= (n.862-6076A=) c.671A= (p.Asp224=) c.61-6076A= (n.61-6076A=) c.442-6076A= (n.442-6076A=) | |
2 | g.233760958A>C | CA351067725 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6076A>C (n.856-6076A>C) c.868-6076A>C (n.868-6076A>C) c.862-6076A>C (n.862-6076A>C) c.671A>C (p.Asp224Ala) c.61-6076A>C (n.61-6076A>C) c.442-6076A>C (n.442-6076A>C) | |
2 | g.233760958A>G | CA351067727 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6076A>G (n.856-6076A>G) c.868-6076A>G (n.868-6076A>G) c.862-6076A>G (n.862-6076A>G) c.671A>G (p.Asp224Gly) c.61-6076A>G (n.61-6076A>G) c.442-6076A>G (n.442-6076A>G) | |
2 | g.233760958A>T | CA67590297 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6076A>T (n.856-6076A>T) c.868-6076A>T (n.868-6076A>T) c.862-6076A>T (n.862-6076A>T) c.671A>T (p.Asp224Val) c.61-6076A>T (n.61-6076A>T) c.442-6076A>T (n.442-6076A>T) | dbSNP gnomAD v4 |
2 | g.233760959C>A | CA351067732 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6075C>A (n.856-6075C>A) c.868-6075C>A (n.868-6075C>A) c.862-6075C>A (n.862-6075C>A) c.672C>A (p.Asp224Glu) c.61-6075C>A (n.61-6075C>A) c.442-6075C>A (n.442-6075C>A) | |
2 | g.233760959C= | CA1335889755 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6075C= (n.856-6075C=) c.868-6075C= (n.868-6075C=) c.862-6075C= (n.862-6075C=) c.672C= (p.Asp224=) c.61-6075C= (n.61-6075C=) c.442-6075C= (n.442-6075C=) | |
2 | g.233760959C>G | CA351067736 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6075C>G (n.856-6075C>G) c.868-6075C>G (n.868-6075C>G) c.862-6075C>G (n.862-6075C>G) c.672C>G (p.Asp224Glu) c.61-6075C>G (n.61-6075C>G) c.442-6075C>G (n.442-6075C>G) | |
2 | g.233760959C>T | CA2179865 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6075C>T (n.856-6075C>T) c.868-6075C>T (n.868-6075C>T) c.862-6075C>T (n.862-6075C>T) c.672C>T (p.Asp224=) c.61-6075C>T (n.61-6075C>T) c.442-6075C>T (n.442-6075C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760960G>A | CA2179866 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6074G>A (n.856-6074G>A) c.868-6074G>A (n.868-6074G>A) c.862-6074G>A (n.862-6074G>A) c.673G>A (p.Val225Met) c.61-6074G>A (n.61-6074G>A) c.442-6074G>A (n.442-6074G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760960G>C | CA351067750 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6074G>C (n.856-6074G>C) c.868-6074G>C (n.868-6074G>C) c.862-6074G>C (n.862-6074G>C) c.673G>C (p.Val225Leu) c.61-6074G>C (n.61-6074G>C) c.442-6074G>C (n.442-6074G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760960G= | CA1335889762 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6074G= (n.856-6074G=) c.868-6074G= (n.868-6074G=) c.862-6074G= (n.862-6074G=) c.673G= (p.Val225=) c.61-6074G= (n.61-6074G=) c.442-6074G= (n.442-6074G=) | |
2 | g.233760960G>T | CA351067748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6074G>T (n.856-6074G>T) c.868-6074G>T (n.868-6074G>T) c.862-6074G>T (n.862-6074G>T) c.673G>T (p.Val225Leu) c.61-6074G>T (n.61-6074G>T) c.442-6074G>T (n.442-6074G>T) | dbSNP |
2 | g.233760961T>A | CA351067754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6073T>A (n.856-6073T>A) c.868-6073T>A (n.868-6073T>A) c.862-6073T>A (n.862-6073T>A) c.674T>A (p.Val225Glu) c.61-6073T>A (n.61-6073T>A) c.442-6073T>A (n.442-6073T>A) | |
2 | g.233760961T>C | CA351067762 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6073T>C (n.856-6073T>C) c.868-6073T>C (n.868-6073T>C) c.862-6073T>C (n.862-6073T>C) c.674T>C (p.Val225Ala) c.61-6073T>C (n.61-6073T>C) c.442-6073T>C (n.442-6073T>C) | |
2 | g.233760961T>G | CA173883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6073T>G (n.856-6073T>G) c.868-6073T>G (n.868-6073T>G) c.862-6073T>G (n.862-6073T>G) c.674T>G (p.Val225Gly) c.61-6073T>G (n.61-6073T>G) c.442-6073T>G (n.442-6073T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760961T= | CA1335889768 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6073T= (n.856-6073T=) c.868-6073T= (n.868-6073T=) c.862-6073T= (n.862-6073T=) c.674T= (p.Val225=) c.61-6073T= (n.61-6073T=) c.442-6073T= (n.442-6073T=) | |
2 | g.233760962G>A | CA431960821 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6072G>A (n.856-6072G>A) c.868-6072G>A (n.868-6072G>A) c.862-6072G>A (n.862-6072G>A) c.675G>A (p.Val225=) c.61-6072G>A (n.61-6072G>A) c.442-6072G>A (n.442-6072G>A) | |
2 | g.233760962G>C | CA431960820 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6072G>C (n.856-6072G>C) c.868-6072G>C (n.868-6072G>C) c.862-6072G>C (n.862-6072G>C) c.675G>C (p.Val225=) c.61-6072G>C (n.61-6072G>C) c.442-6072G>C (n.442-6072G>C) | gnomAD v4 |
2 | g.233760962G>T | CA431960822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6072G>T (n.856-6072G>T) c.868-6072G>T (n.868-6072G>T) c.862-6072G>T (n.862-6072G>T) c.675G>T (p.Val225=) c.61-6072G>T (n.61-6072G>T) c.442-6072G>T (n.442-6072G>T) | |
2 | g.233760963G>A | CA2179867 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6071G>A (n.856-6071G>A) c.868-6071G>A (n.868-6071G>A) c.862-6071G>A (n.862-6071G>A) c.676G>A (p.Val226Ile) c.61-6071G>A (n.61-6071G>A) c.442-6071G>A (n.442-6071G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.233760963G>C | CA351067771 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6071G>C (n.856-6071G>C) c.868-6071G>C (n.868-6071G>C) c.862-6071G>C (n.862-6071G>C) c.676G>C (p.Val226Leu) c.61-6071G>C (n.61-6071G>C) c.442-6071G>C (n.442-6071G>C) | |
2 | g.233760963G= | CA1335889773 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6071G= (n.856-6071G=) c.868-6071G= (n.868-6071G=) c.862-6071G= (n.862-6071G=) c.676G= (p.Val226=) c.61-6071G= (n.61-6071G=) c.442-6071G= (n.442-6071G=) | |
2 | g.233760963G>T | CA351067774 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6071G>T (n.856-6071G>T) c.868-6071G>T (n.868-6071G>T) c.862-6071G>T (n.862-6071G>T) c.676G>T (p.Val226Phe) c.61-6071G>T (n.61-6071G>T) c.442-6071G>T (n.442-6071G>T) | |
2 | g.233760964T>A | CA351067780 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6070T>A (n.856-6070T>A) c.868-6070T>A (n.868-6070T>A) c.862-6070T>A (n.862-6070T>A) c.677T>A (p.Val226Asp) c.61-6070T>A (n.61-6070T>A) c.442-6070T>A (n.442-6070T>A) | |
2 | g.233760964T>C | CA351067782 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6070T>C (n.856-6070T>C) c.868-6070T>C (n.868-6070T>C) c.862-6070T>C (n.862-6070T>C) c.677T>C (p.Val226Ala) c.61-6070T>C (n.61-6070T>C) c.442-6070T>C (n.442-6070T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760964T>G | CA351067785 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6070T>G (n.856-6070T>G) c.868-6070T>G (n.868-6070T>G) c.862-6070T>G (n.862-6070T>G) c.677T>G (p.Val226Gly) c.61-6070T>G (n.61-6070T>G) c.442-6070T>G (n.442-6070T>G) | |
2 | g.233760964T= | CA1335889777 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6070T= (n.856-6070T=) c.868-6070T= (n.868-6070T=) c.862-6070T= (n.862-6070T=) c.677T= (p.Val226=) c.61-6070T= (n.61-6070T=) c.442-6070T= (n.442-6070T=) | |
2 | g.233760966dup | CA2499215798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6068dup (n.856-6068dup) c.868-6068dup (n.868-6068dup) c.862-6068dup (n.862-6068dup) c.679dup (p.Tyr227LeufsTer?) c.61-6068dup (n.61-6068dup) c.442-6068dup (n.442-6068dup) | ClinVar dbSNP |
2 | g.233760965T>A | CA431960823 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6069T>A (n.856-6069T>A) c.868-6069T>A (n.868-6069T>A) c.862-6069T>A (n.862-6069T>A) c.678T>A (p.Val226=) c.61-6069T>A (n.61-6069T>A) c.442-6069T>A (n.442-6069T>A) | |
2 | g.233760965T>C | CA431960824 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6069T>C (n.856-6069T>C) c.868-6069T>C (n.868-6069T>C) c.862-6069T>C (n.862-6069T>C) c.678T>C (p.Val226=) c.61-6069T>C (n.61-6069T>C) c.442-6069T>C (n.442-6069T>C) | |
2 | g.233760965T>G | CA431960825 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6069T>G (n.856-6069T>G) c.868-6069T>G (n.868-6069T>G) c.862-6069T>G (n.862-6069T>G) c.678T>G (p.Val226=) c.61-6069T>G (n.61-6069T>G) c.442-6069T>G (n.442-6069T>G) | |
2 | g.233760966T>A | CA351067796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6068T>A (n.856-6068T>A) c.868-6068T>A (n.868-6068T>A) c.862-6068T>A (n.862-6068T>A) c.679T>A (p.Tyr227Asn) c.61-6068T>A (n.61-6068T>A) c.442-6068T>A (n.442-6068T>A) | |
2 | g.233760966T>C | CA351067799 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6068T>C (n.856-6068T>C) c.868-6068T>C (n.868-6068T>C) c.862-6068T>C (n.862-6068T>C) c.679T>C (p.Tyr227His) c.61-6068T>C (n.61-6068T>C) c.442-6068T>C (n.442-6068T>C) | |
2 | g.233760966T>G | CA351067800 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6068T>G (n.856-6068T>G) c.868-6068T>G (n.868-6068T>G) c.862-6068T>G (n.862-6068T>G) c.679T>G (p.Tyr227Asp) c.61-6068T>G (n.61-6068T>G) c.442-6068T>G (n.442-6068T>G) | |
2 | g.233760967A>C | CA351067803 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6067A>C (n.856-6067A>C) c.868-6067A>C (n.868-6067A>C) c.862-6067A>C (n.862-6067A>C) c.680A>C (p.Tyr227Ser) c.61-6067A>C (n.61-6067A>C) c.442-6067A>C (n.442-6067A>C) | |
2 | g.233760967A>G | CA351067802 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6067A>G (n.856-6067A>G) c.868-6067A>G (n.868-6067A>G) c.862-6067A>G (n.862-6067A>G) c.680A>G (p.Tyr227Cys) c.61-6067A>G (n.61-6067A>G) c.442-6067A>G (n.442-6067A>G) | |
2 | g.233760967A>T | CA351067801 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6067A>T (n.856-6067A>T) c.868-6067A>T (n.868-6067A>T) c.862-6067A>T (n.862-6067A>T) c.680A>T (p.Tyr227Phe) c.61-6067A>T (n.61-6067A>T) c.442-6067A>T (n.442-6067A>T) | |
2 | g.233760968T>A | CA351067807 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6066T>A (n.856-6066T>A) c.868-6066T>A (n.868-6066T>A) c.862-6066T>A (n.862-6066T>A) c.681T>A (p.Tyr227Ter) c.61-6066T>A (n.61-6066T>A) c.442-6066T>A (n.442-6066T>A) | |
2 | g.233760968T>C | CA431960826 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6066T>C (n.856-6066T>C) c.868-6066T>C (n.868-6066T>C) c.862-6066T>C (n.862-6066T>C) c.681T>C (p.Tyr227=) c.61-6066T>C (n.61-6066T>C) c.442-6066T>C (n.442-6066T>C) | |
2 | g.233760968T>G | CA351067809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6066T>G (n.856-6066T>G) c.868-6066T>G (n.868-6066T>G) c.862-6066T>G (n.862-6066T>G) c.681T>G (p.Tyr227Ter) c.61-6066T>G (n.61-6066T>G) c.442-6066T>G (n.442-6066T>G) | |
2 | g.233760969T>A | CA351067813 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6065T>A (n.856-6065T>A) c.868-6065T>A (n.868-6065T>A) c.862-6065T>A (n.862-6065T>A) c.682T>A (p.Ser228Thr) c.61-6065T>A (n.61-6065T>A) c.442-6065T>A (n.442-6065T>A) | |
2 | g.233760969T>C | CA351067816 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6065T>C (n.856-6065T>C) c.868-6065T>C (n.868-6065T>C) c.862-6065T>C (n.862-6065T>C) c.682T>C (p.Ser228Pro) c.61-6065T>C (n.61-6065T>C) c.442-6065T>C (n.442-6065T>C) | |
2 | g.233760969T>G | CA351067820 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6065T>G (n.856-6065T>G) c.868-6065T>G (n.868-6065T>G) c.862-6065T>G (n.862-6065T>G) c.682T>G (p.Ser228Ala) c.61-6065T>G (n.61-6065T>G) c.442-6065T>G (n.442-6065T>G) | |
2 | g.233760970C>A | CA351067822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6064C>A (n.856-6064C>A) c.868-6064C>A (n.868-6064C>A) c.862-6064C>A (n.862-6064C>A) c.683C>A (p.Ser228Tyr) c.61-6064C>A (n.61-6064C>A) c.442-6064C>A (n.442-6064C>A) | |
2 | g.233760970C= | CA1335889780 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6064C= (n.856-6064C=) c.868-6064C= (n.868-6064C=) c.862-6064C= (n.862-6064C=) c.683C= (p.Ser228=) c.61-6064C= (n.61-6064C=) c.442-6064C= (n.442-6064C=) | |
2 | g.233760970C>G | CA351067825 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6064C>G (n.856-6064C>G) c.868-6064C>G (n.868-6064C>G) c.862-6064C>G (n.862-6064C>G) c.683C>G (p.Ser228Cys) c.61-6064C>G (n.61-6064C>G) c.442-6064C>G (n.442-6064C>G) | |
2 | g.233760970C>T | CA2179868 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6064C>T (n.856-6064C>T) c.868-6064C>T (n.868-6064C>T) c.862-6064C>T (n.862-6064C>T) c.683C>T (p.Ser228Phe) c.61-6064C>T (n.61-6064C>T) c.442-6064C>T (n.442-6064C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760973del | CA2663717581 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6061del (n.856-6061del) c.868-6061del (n.868-6061del) c.862-6061del (n.862-6061del) c.686del (p.Pro229ArgfsTer14) c.61-6061del (n.61-6061del) c.442-6061del (n.442-6061del) | gnomAD v4 |
2 | g.233760971C>A | CA67590353 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6063C>A (n.856-6063C>A) c.868-6063C>A (n.868-6063C>A) c.862-6063C>A (n.862-6063C>A) c.684C>A (p.Ser228=) c.61-6063C>A (n.61-6063C>A) c.442-6063C>A (n.442-6063C>A) | dbSNP gnomAD v4 |
2 | g.233760971C= | CA1335889783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6063C= (n.856-6063C=) c.868-6063C= (n.868-6063C=) c.862-6063C= (n.862-6063C=) c.684C= (p.Ser228=) c.61-6063C= (n.61-6063C=) c.442-6063C= (n.442-6063C=) | |
2 | g.233760971C>G | CA431960827 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6063C>G (n.856-6063C>G) c.868-6063C>G (n.868-6063C>G) c.862-6063C>G (n.862-6063C>G) c.684C>G (p.Ser228=) c.61-6063C>G (n.61-6063C>G) c.442-6063C>G (n.442-6063C>G) | |
2 | g.233760971C>T | CA2179869 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6063C>T (n.856-6063C>T) c.868-6063C>T (n.868-6063C>T) c.862-6063C>T (n.862-6063C>T) c.684C>T (p.Ser228=) c.61-6063C>T (n.61-6063C>T) c.442-6063C>T (n.442-6063C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760972C>A | CA351067850 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6062C>A (n.856-6062C>A) c.868-6062C>A (n.868-6062C>A) c.862-6062C>A (n.862-6062C>A) c.685C>A (p.Pro229Thr) c.61-6062C>A (n.61-6062C>A) c.442-6062C>A (n.442-6062C>A) | |
2 | g.233760972C>G | CA351067853 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6062C>G (n.856-6062C>G) c.868-6062C>G (n.868-6062C>G) c.862-6062C>G (n.862-6062C>G) c.685C>G (p.Pro229Ala) c.61-6062C>G (n.61-6062C>G) c.442-6062C>G (n.442-6062C>G) | |
2 | g.233760972C>T | CA351067865 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6062C>T (n.856-6062C>T) c.868-6062C>T (n.868-6062C>T) c.862-6062C>T (n.862-6062C>T) c.685C>T (p.Pro229Ser) c.61-6062C>T (n.61-6062C>T) c.442-6062C>T (n.442-6062C>T) | COSMIC COSMIC |
2 | g.233760973C>A | CA122068 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6061C>A (n.856-6061C>A) c.868-6061C>A (n.868-6061C>A) c.862-6061C>A (n.862-6061C>A) c.686C>A (p.Pro229Gln) c.61-6061C>A (n.61-6061C>A) c.442-6061C>A (n.442-6061C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.233760973C= | CA1335889789 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6061C= (n.856-6061C=) c.868-6061C= (n.868-6061C=) c.862-6061C= (n.862-6061C=) c.686C= (p.Pro229=) c.61-6061C= (n.61-6061C=) c.442-6061C= (n.442-6061C=) | |
2 | g.233760973C>G | CA351067872 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6061C>G (n.856-6061C>G) c.868-6061C>G (n.868-6061C>G) c.862-6061C>G (n.862-6061C>G) c.686C>G (p.Pro229Arg) c.61-6061C>G (n.61-6061C>G) c.442-6061C>G (n.442-6061C>G) | |
2 | g.233760973C>T | CA2179870 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6061C>T (n.856-6061C>T) c.868-6061C>T (n.868-6061C>T) c.862-6061C>T (n.862-6061C>T) c.686C>T (p.Pro229Leu) c.61-6061C>T (n.61-6061C>T) c.442-6061C>T (n.442-6061C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760974G>A | CA2179871 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6060G>A (n.856-6060G>A) c.868-6060G>A (n.868-6060G>A) c.862-6060G>A (n.862-6060G>A) c.687G>A (p.Pro229=) c.61-6060G>A (n.61-6060G>A) c.442-6060G>A (n.442-6060G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760974G>C | CA431960828 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6060G>C (n.856-6060G>C) c.868-6060G>C (n.868-6060G>C) c.862-6060G>C (n.862-6060G>C) c.687G>C (p.Pro229=) c.61-6060G>C (n.61-6060G>C) c.442-6060G>C (n.442-6060G>C) | gnomAD v4 |
2 | g.233760974G= | CA1335889797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6060G= (n.856-6060G=) c.868-6060G= (n.868-6060G=) c.862-6060G= (n.862-6060G=) c.687G= (p.Pro229=) c.61-6060G= (n.61-6060G=) c.442-6060G= (n.442-6060G=) | |
2 | g.233760974G>T | CA431960829 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6060G>T (n.856-6060G>T) c.868-6060G>T (n.868-6060G>T) c.862-6060G>T (n.862-6060G>T) c.687G>T (p.Pro229=) c.61-6060G>T (n.61-6060G>T) c.442-6060G>T (n.442-6060G>T) | |
2 | g.233760975T>A | CA351067878 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6059T>A (n.856-6059T>A) c.868-6059T>A (n.868-6059T>A) c.862-6059T>A (n.862-6059T>A) c.688T>A (p.Tyr230Asn) c.61-6059T>A (n.61-6059T>A) c.442-6059T>A (n.442-6059T>A) | gnomAD v4 |
2 | g.233760975T>C | CA351067880 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6059T>C (n.856-6059T>C) c.868-6059T>C (n.868-6059T>C) c.862-6059T>C (n.862-6059T>C) c.688T>C (p.Tyr230His) c.61-6059T>C (n.61-6059T>C) c.442-6059T>C (n.442-6059T>C) | |
2 | g.233760975T>G | CA351067883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6059T>G (n.856-6059T>G) c.868-6059T>G (n.868-6059T>G) c.862-6059T>G (n.862-6059T>G) c.688T>G (p.Tyr230Asp) c.61-6059T>G (n.61-6059T>G) c.442-6059T>G (n.442-6059T>G) | |
2 | g.233760976A= | CA1335889800 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6058A= (n.856-6058A=) c.868-6058A= (n.868-6058A=) c.862-6058A= (n.862-6058A=) c.689A= (p.Tyr230=) c.61-6058A= (n.61-6058A=) c.442-6058A= (n.442-6058A=) | |
2 | g.233760976A>C | CA351067891 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6058A>C (n.856-6058A>C) c.868-6058A>C (n.868-6058A>C) c.862-6058A>C (n.862-6058A>C) c.689A>C (p.Tyr230Ser) c.61-6058A>C (n.61-6058A>C) c.442-6058A>C (n.442-6058A>C) | |
2 | g.233760976A>G | CA2179872 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6058A>G (n.856-6058A>G) c.868-6058A>G (n.868-6058A>G) c.862-6058A>G (n.862-6058A>G) c.689A>G (p.Tyr230Cys) c.61-6058A>G (n.61-6058A>G) c.442-6058A>G (n.442-6058A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760976A>T | CA351067894 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6058A>T (n.856-6058A>T) c.868-6058A>T (n.868-6058A>T) c.862-6058A>T (n.862-6058A>T) c.689A>T (p.Tyr230Phe) c.61-6058A>T (n.61-6058A>T) c.442-6058A>T (n.442-6058A>T) | |
2 | g.233760977T>A | CA351067895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6057T>A (n.856-6057T>A) c.868-6057T>A (n.868-6057T>A) c.862-6057T>A (n.862-6057T>A) c.690T>A (p.Tyr230Ter) c.61-6057T>A (n.61-6057T>A) c.442-6057T>A (n.442-6057T>A) | |
2 | g.233760977T>C | CA431960830 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6057T>C (n.856-6057T>C) c.868-6057T>C (n.868-6057T>C) c.862-6057T>C (n.862-6057T>C) c.690T>C (p.Tyr230=) c.61-6057T>C (n.61-6057T>C) c.442-6057T>C (n.442-6057T>C) | |
2 | g.233760977T>G | CA351067896 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6057T>G (n.856-6057T>G) c.868-6057T>G (n.868-6057T>G) c.862-6057T>G (n.862-6057T>G) c.690T>G (p.Tyr230Ter) c.61-6057T>G (n.61-6057T>G) c.442-6057T>G (n.442-6057T>G) | |
2 | g.233760978G>A | CA351067899 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6056G>A (n.856-6056G>A) c.868-6056G>A (n.868-6056G>A) c.862-6056G>A (n.862-6056G>A) c.691G>A (p.Ala231Thr) c.61-6056G>A (n.61-6056G>A) c.442-6056G>A (n.442-6056G>A) | gnomAD v4 |
2 | g.233760978G>C | CA351067902 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6056G>C (n.856-6056G>C) c.868-6056G>C (n.868-6056G>C) c.862-6056G>C (n.862-6056G>C) c.691G>C (p.Ala231Pro) c.61-6056G>C (n.61-6056G>C) c.442-6056G>C (n.442-6056G>C) | |
2 | g.233760978G>T | CA351067906 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6056G>T (n.856-6056G>T) c.868-6056G>T (n.868-6056G>T) c.862-6056G>T (n.862-6056G>T) c.691G>T (p.Ala231Ser) c.61-6056G>T (n.61-6056G>T) c.442-6056G>T (n.442-6056G>T) | |
2 | g.233760979C>A | CA351067911 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6055C>A (n.856-6055C>A) c.868-6055C>A (n.868-6055C>A) c.862-6055C>A (n.862-6055C>A) c.692C>A (p.Ala231Glu) c.61-6055C>A (n.61-6055C>A) c.442-6055C>A (n.442-6055C>A) | gnomAD v4 |
2 | g.233760979C>G | CA351067916 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6055C>G (n.856-6055C>G) c.868-6055C>G (n.868-6055C>G) c.862-6055C>G (n.862-6055C>G) c.692C>G (p.Ala231Gly) c.61-6055C>G (n.61-6055C>G) c.442-6055C>G (n.442-6055C>G) | |
2 | g.233760979C>T | CA351067914 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6055C>T (n.856-6055C>T) c.868-6055C>T (n.868-6055C>T) c.862-6055C>T (n.862-6055C>T) c.692C>T (p.Ala231Val) c.61-6055C>T (n.61-6055C>T) c.442-6055C>T (n.442-6055C>T) | |
2 | g.233760980A>C | CA431960831 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6054A>C (n.856-6054A>C) c.868-6054A>C (n.868-6054A>C) c.862-6054A>C (n.862-6054A>C) c.693A>C (p.Ala231=) c.61-6054A>C (n.61-6054A>C) c.442-6054A>C (n.442-6054A>C) | |
2 | g.233760980A>G | CA431960832 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6054A>G (n.856-6054A>G) c.868-6054A>G (n.868-6054A>G) c.862-6054A>G (n.862-6054A>G) c.693A>G (p.Ala231=) c.61-6054A>G (n.61-6054A>G) c.442-6054A>G (n.442-6054A>G) | |
2 | g.233760980A>T | CA431960833 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6054A>T (n.856-6054A>T) c.868-6054A>T (n.868-6054A>T) c.862-6054A>T (n.862-6054A>T) c.693A>T (p.Ala231=) c.61-6054A>T (n.61-6054A>T) c.442-6054A>T (n.442-6054A>T) | |
2 | g.233760981A>C | CA351067919 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6053A>C (n.856-6053A>C) c.868-6053A>C (n.868-6053A>C) c.862-6053A>C (n.862-6053A>C) c.694A>C (p.Thr232Pro) c.61-6053A>C (n.61-6053A>C) c.442-6053A>C (n.442-6053A>C) | |
2 | g.233760981A>G | CA351067920 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6053A>G (n.856-6053A>G) c.868-6053A>G (n.868-6053A>G) c.862-6053A>G (n.862-6053A>G) c.694A>G (p.Thr232Ala) c.61-6053A>G (n.61-6053A>G) c.442-6053A>G (n.442-6053A>G) | |
2 | g.233760981A>T | CA351067923 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6053A>T (n.856-6053A>T) c.868-6053A>T (n.868-6053A>T) c.862-6053A>T (n.862-6053A>T) c.694A>T (p.Thr232Ser) c.61-6053A>T (n.61-6053A>T) c.442-6053A>T (n.442-6053A>T) | |
2 | g.233760982C>A | CA67590365 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6052C>A (n.856-6052C>A) c.868-6052C>A (n.868-6052C>A) c.862-6052C>A (n.862-6052C>A) c.695C>A (p.Thr232Asn) c.61-6052C>A (n.61-6052C>A) c.442-6052C>A (n.442-6052C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760982C= | CA1335889806 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6052C= (n.856-6052C=) c.868-6052C= (n.868-6052C=) c.862-6052C= (n.862-6052C=) c.695C= (p.Thr232=) c.61-6052C= (n.61-6052C=) c.442-6052C= (n.442-6052C=) | |
2 | g.233760982C>G | CA351067930 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6052C>G (n.856-6052C>G) c.868-6052C>G (n.868-6052C>G) c.862-6052C>G (n.862-6052C>G) c.695C>G (p.Thr232Ser) c.61-6052C>G (n.61-6052C>G) c.442-6052C>G (n.442-6052C>G) | |
2 | g.233760982C>T | CA2179873 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6052C>T (n.856-6052C>T) c.868-6052C>T (n.868-6052C>T) c.862-6052C>T (n.862-6052C>T) c.695C>T (p.Thr232Ile) c.61-6052C>T (n.61-6052C>T) c.442-6052C>T (n.442-6052C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760983C>A | CA431960835 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6051C>A (n.856-6051C>A) c.868-6051C>A (n.868-6051C>A) c.862-6051C>A (n.862-6051C>A) c.696C>A (p.Thr232=) c.61-6051C>A (n.61-6051C>A) c.442-6051C>A (n.442-6051C>A) | gnomAD v4 |
2 | g.233760983C= | CA1335889811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6051C= (n.856-6051C=) c.868-6051C= (n.868-6051C=) c.862-6051C= (n.862-6051C=) c.696C= (p.Thr232=) c.61-6051C= (n.61-6051C=) c.442-6051C= (n.442-6051C=) | |
2 | g.233760983C>G | CA431960834 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6051C>G (n.856-6051C>G) c.868-6051C>G (n.868-6051C>G) c.862-6051C>G (n.862-6051C>G) c.696C>G (p.Thr232=) c.61-6051C>G (n.61-6051C>G) c.442-6051C>G (n.442-6051C>G) | gnomAD v4 |
2 | g.233760983C>T | CA2179874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6051C>T (n.856-6051C>T) c.868-6051C>T (n.868-6051C>T) c.862-6051C>T (n.862-6051C>T) c.696C>T (p.Thr232=) c.61-6051C>T (n.61-6051C>T) c.442-6051C>T (n.442-6051C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760984C>A | CA351067936 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6050C>A (n.856-6050C>A) c.868-6050C>A (n.868-6050C>A) c.862-6050C>A (n.862-6050C>A) c.697C>A (p.Leu233Ile) c.61-6050C>A (n.61-6050C>A) c.442-6050C>A (n.442-6050C>A) | dbSNP |
2 | g.233760984C>G | CA351067939 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6050C>G (n.856-6050C>G) c.868-6050C>G (n.868-6050C>G) c.862-6050C>G (n.862-6050C>G) c.697C>G (p.Leu233Val) c.61-6050C>G (n.61-6050C>G) c.442-6050C>G (n.442-6050C>G) | |
2 | g.233760984C>T | CA351067940 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6050C>T (n.856-6050C>T) c.868-6050C>T (n.868-6050C>T) c.862-6050C>T (n.862-6050C>T) c.697C>T (p.Leu233Phe) c.61-6050C>T (n.61-6050C>T) c.442-6050C>T (n.442-6050C>T) | gnomAD v4 |
2 | g.233760985T>A | CA351067942 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6049T>A (n.856-6049T>A) c.868-6049T>A (n.868-6049T>A) c.862-6049T>A (n.862-6049T>A) c.698T>A (p.Leu233His) c.61-6049T>A (n.61-6049T>A) c.442-6049T>A (n.442-6049T>A) | |
2 | g.233760985T>C | CA351067944 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6049T>C (n.856-6049T>C) c.868-6049T>C (n.868-6049T>C) c.862-6049T>C (n.862-6049T>C) c.698T>C (p.Leu233Pro) c.61-6049T>C (n.61-6049T>C) c.442-6049T>C (n.442-6049T>C) | |
2 | g.233760985T>G | CA67590394 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6049T>G (n.856-6049T>G) c.868-6049T>G (n.868-6049T>G) c.862-6049T>G (n.862-6049T>G) c.698T>G (p.Leu233Arg) c.61-6049T>G (n.61-6049T>G) c.442-6049T>G (n.442-6049T>G) | dbSNP |
2 | g.233760985T= | CA1335889814 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6049T= (n.856-6049T=) c.868-6049T= (n.868-6049T=) c.862-6049T= (n.862-6049T=) c.698T= (p.Leu233=) c.61-6049T= (n.61-6049T=) c.442-6049T= (n.442-6049T=) | |
2 | g.233760986T>A | CA431960838 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6048T>A (n.856-6048T>A) c.868-6048T>A (n.868-6048T>A) c.862-6048T>A (n.862-6048T>A) c.699T>A (p.Leu233=) c.61-6048T>A (n.61-6048T>A) c.442-6048T>A (n.442-6048T>A) | |
2 | g.233760986T>C | CA431960836 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6048T>C (n.856-6048T>C) c.868-6048T>C (n.868-6048T>C) c.862-6048T>C (n.862-6048T>C) c.699T>C (p.Leu233=) c.61-6048T>C (n.61-6048T>C) c.442-6048T>C (n.442-6048T>C) | |
2 | g.233760986T>G | CA431960837 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6048T>G (n.856-6048T>G) c.868-6048T>G (n.868-6048T>G) c.862-6048T>G (n.862-6048T>G) c.699T>G (p.Leu233=) c.61-6048T>G (n.61-6048T>G) c.442-6048T>G (n.442-6048T>G) | |
2 | g.233760987G>A | CA351067946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6047G>A (n.856-6047G>A) c.868-6047G>A (n.868-6047G>A) c.862-6047G>A (n.862-6047G>A) c.700G>A (p.Ala234Thr) c.61-6047G>A (n.61-6047G>A) c.442-6047G>A (n.442-6047G>A) | |
2 | g.233760987G>C | CA351067947 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6047G>C (n.856-6047G>C) c.868-6047G>C (n.868-6047G>C) c.862-6047G>C (n.862-6047G>C) c.700G>C (p.Ala234Pro) c.61-6047G>C (n.61-6047G>C) c.442-6047G>C (n.442-6047G>C) | |
2 | g.233760987G>T | CA351067949 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6047G>T (n.856-6047G>T) c.868-6047G>T (n.868-6047G>T) c.862-6047G>T (n.862-6047G>T) c.700G>T (p.Ala234Ser) c.61-6047G>T (n.61-6047G>T) c.442-6047G>T (n.442-6047G>T) | gnomAD v4 |
2 | g.233760988C>A | CA351067951 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6046C>A (n.856-6046C>A) c.868-6046C>A (n.868-6046C>A) c.862-6046C>A (n.862-6046C>A) c.701C>A (p.Ala234Asp) c.61-6046C>A (n.61-6046C>A) c.442-6046C>A (n.442-6046C>A) | COSMIC COSMIC |
2 | g.233760988C>G | CA351067953 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6046C>G (n.856-6046C>G) c.868-6046C>G (n.868-6046C>G) c.862-6046C>G (n.862-6046C>G) c.701C>G (p.Ala234Gly) c.61-6046C>G (n.61-6046C>G) c.442-6046C>G (n.442-6046C>G) | |
2 | g.233760988C>T | CA351067954 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6046C>T (n.856-6046C>T) c.868-6046C>T (n.868-6046C>T) c.862-6046C>T (n.862-6046C>T) c.701C>T (p.Ala234Val) c.61-6046C>T (n.61-6046C>T) c.442-6046C>T (n.442-6046C>T) | |
2 | g.233760989C>A | CA431960839 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6045C>A (n.856-6045C>A) c.868-6045C>A (n.868-6045C>A) c.862-6045C>A (n.862-6045C>A) c.702C>A (p.Ala234=) c.61-6045C>A (n.61-6045C>A) c.442-6045C>A (n.442-6045C>A) | |
2 | g.233760989C>G | CA431960841 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6045C>G (n.856-6045C>G) c.868-6045C>G (n.868-6045C>G) c.862-6045C>G (n.862-6045C>G) c.702C>G (p.Ala234=) c.61-6045C>G (n.61-6045C>G) c.442-6045C>G (n.442-6045C>G) | |
2 | g.233760989C>T | CA431960840 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6045C>T (n.856-6045C>T) c.868-6045C>T (n.868-6045C>T) c.862-6045C>T (n.862-6045C>T) c.702C>T (p.Ala234=) c.61-6045C>T (n.61-6045C>T) c.442-6045C>T (n.442-6045C>T) | gnomAD v4 |
2 | g.233760990T>A | CA351067955 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6044T>A (n.856-6044T>A) c.868-6044T>A (n.868-6044T>A) c.862-6044T>A (n.862-6044T>A) c.703T>A (p.Ser235Thr) c.61-6044T>A (n.61-6044T>A) c.442-6044T>A (n.442-6044T>A) | |
2 | g.233760990T>C | CA351067957 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6044T>C (n.856-6044T>C) c.868-6044T>C (n.868-6044T>C) c.862-6044T>C (n.862-6044T>C) c.703T>C (p.Ser235Pro) c.61-6044T>C (n.61-6044T>C) c.442-6044T>C (n.442-6044T>C) | |
2 | g.233760990T>G | CA351067959 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6044T>G (n.856-6044T>G) c.868-6044T>G (n.868-6044T>G) c.862-6044T>G (n.862-6044T>G) c.703T>G (p.Ser235Ala) c.61-6044T>G (n.61-6044T>G) c.442-6044T>G (n.442-6044T>G) | |
2 | g.233760991C>A | CA351067961 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6043C>A (n.856-6043C>A) c.868-6043C>A (n.868-6043C>A) c.862-6043C>A (n.862-6043C>A) c.704C>A (p.Ser235Ter) c.61-6043C>A (n.61-6043C>A) c.442-6043C>A (n.442-6043C>A) | |
2 | g.233760991C= | CA1335889817 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6043C= (n.856-6043C=) c.868-6043C= (n.868-6043C=) c.862-6043C= (n.862-6043C=) c.704C= (p.Ser235=) c.61-6043C= (n.61-6043C=) c.442-6043C= (n.442-6043C=) | |
2 | g.233760991C>G | CA351067962 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6043C>G (n.856-6043C>G) c.868-6043C>G (n.868-6043C>G) c.862-6043C>G (n.862-6043C>G) c.704C>G (p.Ser235Ter) c.61-6043C>G (n.61-6043C>G) c.442-6043C>G (n.442-6043C>G) | gnomAD v4 |
2 | g.233760991C>T | CA351067964 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6043C>T (n.856-6043C>T) c.868-6043C>T (n.868-6043C>T) c.862-6043C>T (n.862-6043C>T) c.704C>T (p.Ser235Leu) c.61-6043C>T (n.61-6043C>T) c.442-6043C>T (n.442-6043C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.233760992A>C | CA431960843 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6042A>C (n.856-6042A>C) c.868-6042A>C (n.868-6042A>C) c.862-6042A>C (n.862-6042A>C) c.705A>C (p.Ser235=) c.61-6042A>C (n.61-6042A>C) c.442-6042A>C (n.442-6042A>C) | |
2 | g.233760992A>G | CA431960844 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6042A>G (n.856-6042A>G) c.868-6042A>G (n.868-6042A>G) c.862-6042A>G (n.862-6042A>G) c.705A>G (p.Ser235=) c.61-6042A>G (n.61-6042A>G) c.442-6042A>G (n.442-6042A>G) | |
2 | g.233760992A>T | CA431960842 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6042A>T (n.856-6042A>T) c.868-6042A>T (n.868-6042A>T) c.862-6042A>T (n.862-6042A>T) c.705A>T (p.Ser235=) c.61-6042A>T (n.61-6042A>T) c.442-6042A>T (n.442-6042A>T) | |
2 | g.233760993G>A | CA351067969 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6041G>A (n.856-6041G>A) c.868-6041G>A (n.868-6041G>A) c.862-6041G>A (n.862-6041G>A) c.706G>A (p.Glu236Lys) c.61-6041G>A (n.61-6041G>A) c.442-6041G>A (n.442-6041G>A) | |
2 | g.233760993G>C | CA2179875 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6041G>C (n.856-6041G>C) c.868-6041G>C (n.868-6041G>C) c.862-6041G>C (n.862-6041G>C) c.706G>C (p.Glu236Gln) c.61-6041G>C (n.61-6041G>C) c.442-6041G>C (n.442-6041G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760993G= | CA1335889818 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6041G= (n.856-6041G=) c.868-6041G= (n.868-6041G=) c.862-6041G= (n.862-6041G=) c.706G= (p.Glu236=) c.61-6041G= (n.61-6041G=) c.442-6041G= (n.442-6041G=) | |
2 | g.233760993G>T | CA351067966 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6041G>T (n.856-6041G>T) c.868-6041G>T (n.868-6041G>T) c.862-6041G>T (n.862-6041G>T) c.706G>T (p.Glu236Ter) c.61-6041G>T (n.61-6041G>T) c.442-6041G>T (n.442-6041G>T) | |
2 | g.233760994A>C | CA351067971 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6040A>C (n.856-6040A>C) c.868-6040A>C (n.868-6040A>C) c.862-6040A>C (n.862-6040A>C) c.707A>C (p.Glu236Ala) c.61-6040A>C (n.61-6040A>C) c.442-6040A>C (n.442-6040A>C) | |
2 | g.233760994A>G | CA351067972 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6040A>G (n.856-6040A>G) c.868-6040A>G (n.868-6040A>G) c.862-6040A>G (n.862-6040A>G) c.707A>G (p.Glu236Gly) c.61-6040A>G (n.61-6040A>G) c.442-6040A>G (n.442-6040A>G) | |
2 | g.233760994A>T | CA351067974 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6040A>T (n.856-6040A>T) c.868-6040A>T (n.868-6040A>T) c.862-6040A>T (n.862-6040A>T) c.707A>T (p.Glu236Val) c.61-6040A>T (n.61-6040A>T) c.442-6040A>T (n.442-6040A>T) | |
2 | g.233760995A= | CA1335889822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6039A= (n.856-6039A=) c.868-6039A= (n.868-6039A=) c.862-6039A= (n.862-6039A=) c.708A= (p.Glu236=) c.61-6039A= (n.61-6039A=) c.442-6039A= (n.442-6039A=) | |
2 | g.233760995A>C | CA351067976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6039A>C (n.856-6039A>C) c.868-6039A>C (n.868-6039A>C) c.862-6039A>C (n.862-6039A>C) c.708A>C (p.Glu236Asp) c.61-6039A>C (n.61-6039A>C) c.442-6039A>C (n.442-6039A>C) | |
2 | g.233760995A>G | CA2179876 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6039A>G (n.856-6039A>G) c.868-6039A>G (n.868-6039A>G) c.862-6039A>G (n.862-6039A>G) c.708A>G (p.Glu236=) c.61-6039A>G (n.61-6039A>G) c.442-6039A>G (n.442-6039A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760995A>T | CA351067978 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6039A>T (n.856-6039A>T) c.868-6039A>T (n.868-6039A>T) c.862-6039A>T (n.862-6039A>T) c.708A>T (p.Glu236Asp) c.61-6039A>T (n.61-6039A>T) c.442-6039A>T (n.442-6039A>T) | |
2 | g.233760996T>A | CA351067981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6038T>A (n.856-6038T>A) c.868-6038T>A (n.868-6038T>A) c.862-6038T>A (n.862-6038T>A) c.709T>A (p.Phe237Ile) c.61-6038T>A (n.61-6038T>A) c.442-6038T>A (n.442-6038T>A) | |
2 | g.233760996T>C | CA351067982 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6038T>C (n.856-6038T>C) c.868-6038T>C (n.868-6038T>C) c.862-6038T>C (n.862-6038T>C) c.709T>C (p.Phe237Leu) c.61-6038T>C (n.61-6038T>C) c.442-6038T>C (n.442-6038T>C) | |
2 | g.233760996T>G | CA351067983 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6038T>G (n.856-6038T>G) c.868-6038T>G (n.868-6038T>G) c.862-6038T>G (n.862-6038T>G) c.709T>G (p.Phe237Val) c.61-6038T>G (n.61-6038T>G) c.442-6038T>G (n.442-6038T>G) | |
2 | g.233760997T>A | CA351067986 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6037T>A (n.856-6037T>A) c.868-6037T>A (n.868-6037T>A) c.862-6037T>A (n.862-6037T>A) c.710T>A (p.Phe237Tyr) c.61-6037T>A (n.61-6037T>A) c.442-6037T>A (n.442-6037T>A) | gnomAD v4 |
2 | g.233760997T>C | CA351067988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6037T>C (n.856-6037T>C) c.868-6037T>C (n.868-6037T>C) c.862-6037T>C (n.862-6037T>C) c.710T>C (p.Phe237Ser) c.61-6037T>C (n.61-6037T>C) c.442-6037T>C (n.442-6037T>C) | |
2 | g.233760997T>G | CA351067989 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6037T>G (n.856-6037T>G) c.868-6037T>G (n.868-6037T>G) c.862-6037T>G (n.862-6037T>G) c.710T>G (p.Phe237Cys) c.61-6037T>G (n.61-6037T>G) c.442-6037T>G (n.442-6037T>G) | |
2 | g.233760998C>A | CA351067991 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6036C>A (n.856-6036C>A) c.868-6036C>A (n.868-6036C>A) c.862-6036C>A (n.862-6036C>A) c.711C>A (p.Phe237Leu) c.61-6036C>A (n.61-6036C>A) c.442-6036C>A (n.442-6036C>A) | |
2 | g.233760998C= | CA1335889825 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6036C= (n.856-6036C=) c.868-6036C= (n.868-6036C=) c.862-6036C= (n.862-6036C=) c.711C= (p.Phe237=) c.61-6036C= (n.61-6036C=) c.442-6036C= (n.442-6036C=) | |
2 | g.233760998C>G | CA351067993 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6036C>G (n.856-6036C>G) c.868-6036C>G (n.868-6036C>G) c.862-6036C>G (n.862-6036C>G) c.711C>G (p.Phe237Leu) c.61-6036C>G (n.61-6036C>G) c.442-6036C>G (n.442-6036C>G) | |
2 | g.233760998C>T | CA431960845 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6036C>T (n.856-6036C>T) c.868-6036C>T (n.868-6036C>T) c.862-6036C>T (n.862-6036C>T) c.711C>T (p.Phe237=) c.61-6036C>T (n.61-6036C>T) c.442-6036C>T (n.442-6036C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.233760999C>A | CA351067997 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6035C>A (n.856-6035C>A) c.868-6035C>A (n.868-6035C>A) c.862-6035C>A (n.862-6035C>A) c.712C>A (p.Leu238Ile) c.61-6035C>A (n.61-6035C>A) c.442-6035C>A (n.442-6035C>A) | |
2 | g.233760999C>G | CA351067998 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6035C>G (n.856-6035C>G) c.868-6035C>G (n.868-6035C>G) c.862-6035C>G (n.862-6035C>G) c.712C>G (p.Leu238Val) c.61-6035C>G (n.61-6035C>G) c.442-6035C>G (n.442-6035C>G) | |
2 | g.233760999C>T | CA351067995 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6035C>T (n.856-6035C>T) c.868-6035C>T (n.868-6035C>T) c.862-6035C>T (n.862-6035C>T) c.712C>T (p.Leu238Phe) c.61-6035C>T (n.61-6035C>T) c.442-6035C>T (n.442-6035C>T) |