Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760961T>ACA351067754UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760961T>CCA351067762UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760961T>GCA173883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760961T=CA1335889768UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760962G>ACA431960821UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760962G>CCA431960820UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760962G>TCA431960822UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760963G>ACA2179867UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760963G>CCA351067771UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760963G=CA1335889773UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760963G>TCA351067774UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760964T>ACA351067780UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760964T>CCA351067782UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760964T>GCA351067785UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760964T=CA1335889777UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760966dupCA2499215798UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760965T>ACA431960823UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760965T>CCA431960824UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760965T>GCA431960825UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760966T>ACA351067796UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760966T>CCA351067799UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760966T>GCA351067800UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760967A>CCA351067803UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760967A>GCA351067802UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760967A>TCA351067801UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760968T>ACA351067807UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760968T>CCA431960826UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760968T>GCA351067809UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760969T>ACA351067813UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760969T>CCA351067816UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760969T>GCA351067820UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760970C>ACA351067822UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760970C=CA1335889780UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760970C>GCA351067825UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760970C>TCA2179868UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760973delCA2663717581UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760971C>ACA67590353UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760971C=CA1335889783UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760971C>GCA431960827UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760971C>TCA2179869UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760972C>ACA351067850UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760972C>GCA351067853UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760972C>TCA351067865UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760973C>ACA122068UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760973C=CA1335889789UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760973C>GCA351067872UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760973C>TCA2179870UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760974G>ACA2179871UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760974G>CCA431960828UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760974G=CA1335889797UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760974G>TCA431960829UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760975T>ACA351067878UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760975T>CCA351067880UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760975T>GCA351067883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760976A=CA1335889800UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760976A>CCA351067891UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760976A>GCA2179872UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760976A>TCA351067894UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760977T>ACA351067895UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760977T>CCA431960830UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760977T>GCA351067896UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760978G>ACA351067899UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760978G>CCA351067902UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760978G>TCA351067906UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760979C>ACA351067911UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760979C>GCA351067916UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760979C>TCA351067914UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760980A>CCA431960831UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760980A>GCA431960832UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760980A>TCA431960833UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760981A>CCA351067919UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760981A>GCA351067920UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760981A>TCA351067923UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760982C>ACA67590365UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760982C=CA1335889806UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760982C>GCA351067930UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760982C>TCA2179873UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760983C>ACA431960835UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760983C=CA1335889811UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760983C>GCA431960834UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760983C>TCA2179874UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760984C>ACA351067936UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760984C>GCA351067939UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760984C>TCA351067940UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760985T>ACA351067942UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760985T>CCA351067944UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760985T>GCA67590394UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760985T=CA1335889814UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760986T>ACA431960838UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760986T>CCA431960836UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760986T>GCA431960837UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760987G>ACA351067946UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760987G>CCA351067947UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760987G>TCA351067949UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760988C>ACA351067951UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760988C>GCA351067953UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760988C>TCA351067954UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760989C>ACA431960839UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760989C>GCA431960841UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760989C>TCA431960840UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760990T>ACA351067955UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760990T>CCA351067957UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760990T>GCA351067959UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760991C>ACA351067961UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760991C=CA1335889817UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760991C>GCA351067962UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760991C>TCA351067964UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760992A>CCA431960843UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760992A>GCA431960844UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760992A>TCA431960842UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760993G>ACA351067969UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760993G>CCA2179875UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760993G=CA1335889818UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760993G>TCA351067966UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760994A>CCA351067971UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760994A>GCA351067972UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760994A>TCA351067974UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760995A=CA1335889822UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760995A>CCA351067976UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760995A>GCA2179876UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760995A>TCA351067978UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760996T>ACA351067981UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760996T>CCA351067982UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760996T>GCA351067983UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760997T>ACA351067986UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760997T>CCA351067988UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760997T>GCA351067989UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760998C>ACA351067991UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760998C=CA1335889825UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233760998C>GCA351067993UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760998C>TCA431960845UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233760999C>ACA351067997UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760999C>GCA351067998UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233760999C>TCA351067995UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233761000T>ACA351067999UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6034T>A (n.856-6034T>A)
c.868-6034T>A (n.868-6034T>A)
c.862-6034T>A (n.862-6034T>A)
c.713T>A (p.Leu238His)
c.61-6034T>A (n.61-6034T>A)
c.442-6034T>A (n.442-6034T>A)
2g.233761000T>CCA351068000UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6034T>C (n.856-6034T>C)
c.868-6034T>C (n.868-6034T>C)
c.862-6034T>C (n.862-6034T>C)
c.713T>C (p.Leu238Pro)
c.61-6034T>C (n.61-6034T>C)
c.442-6034T>C (n.442-6034T>C)
2g.233761000T>GCA351068001UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6034T>G (n.856-6034T>G)
c.868-6034T>G (n.868-6034T>G)
c.862-6034T>G (n.862-6034T>G)
c.713T>G (p.Leu238Arg)
c.61-6034T>G (n.61-6034T>G)
c.442-6034T>G (n.442-6034T>G)
2g.233761001T>ACA431960847UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6033T>A (n.856-6033T>A)
c.868-6033T>A (n.868-6033T>A)
c.862-6033T>A (n.862-6033T>A)
c.714T>A (p.Leu238=)
c.61-6033T>A (n.61-6033T>A)
c.442-6033T>A (n.442-6033T>A)
2g.233761001T>CCA431960848UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6033T>C (n.856-6033T>C)
c.868-6033T>C (n.868-6033T>C)
c.862-6033T>C (n.862-6033T>C)
c.714T>C (p.Leu238=)
c.61-6033T>C (n.61-6033T>C)
c.442-6033T>C (n.442-6033T>C)
2g.233761001T>GCA431960846UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6033T>G (n.856-6033T>G)
c.868-6033T>G (n.868-6033T>G)
c.862-6033T>G (n.862-6033T>G)
c.714T>G (p.Leu238=)
c.61-6033T>G (n.61-6033T>G)
c.442-6033T>G (n.442-6033T>G)
2g.233761002C>ACA351068004UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6032C>A (n.856-6032C>A)
c.868-6032C>A (n.868-6032C>A)
c.862-6032C>A (n.862-6032C>A)
c.715C>A (p.Gln239Lys)
c.61-6032C>A (n.61-6032C>A)
c.442-6032C>A (n.442-6032C>A)
2g.233761002C=CA1335889830UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6032C= (n.856-6032C=)
c.868-6032C= (n.868-6032C=)
c.862-6032C= (n.862-6032C=)
c.715C= (p.Gln239=)
c.61-6032C= (n.61-6032C=)
c.442-6032C= (n.442-6032C=)
2g.233761002C>GCA351068006UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6032C>G (n.856-6032C>G)
c.868-6032C>G (n.868-6032C>G)
c.862-6032C>G (n.862-6032C>G)
c.715C>G (p.Gln239Glu)
c.61-6032C>G (n.61-6032C>G)
c.442-6032C>G (n.442-6032C>G)
 gnomAD v4
2g.233761002C>TCA351068007UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6032C>T (n.856-6032C>T)
c.868-6032C>T (n.868-6032C>T)
c.862-6032C>T (n.862-6032C>T)
c.715C>T (p.Gln239Ter)
c.61-6032C>T (n.61-6032C>T)
c.442-6032C>T (n.442-6032C>T)
 dbSNP
2g.233761002_233761004delinsCAGCA1335889828UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6032_856-6030delinsCAG (n.856-6032_856-6030delinsCAG)
c.868-6032_868-6030delinsCAG (n.868-6032_868-6030delinsCAG)
c.862-6032_862-6030delinsCAG (n.862-6032_862-6030delinsCAG)
c.715_717delinsCAG (p.Gln239=)
c.61-6032_61-6030delinsCAG (n.61-6032_61-6030delinsCAG)
c.442-6032_442-6030delinsCAG (n.442-6032_442-6030delinsCAG)
2g.233761003A>CCA351068013UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6031A>C (n.856-6031A>C)
c.868-6031A>C (n.868-6031A>C)
c.862-6031A>C (n.862-6031A>C)
c.716A>C (p.Gln239Pro)
c.61-6031A>C (n.61-6031A>C)
c.442-6031A>C (n.442-6031A>C)
2g.233761003A>GCA351068011UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6031A>G (n.856-6031A>G)
c.868-6031A>G (n.868-6031A>G)
c.862-6031A>G (n.862-6031A>G)
c.716A>G (p.Gln239Arg)
c.61-6031A>G (n.61-6031A>G)
c.442-6031A>G (n.442-6031A>G)
 gnomAD v4
2g.233761003A>TCA351068010UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6031A>T (n.856-6031A>T)
c.868-6031A>T (n.868-6031A>T)
c.862-6031A>T (n.862-6031A>T)
c.716A>T (p.Gln239Leu)
c.61-6031A>T (n.61-6031A>T)
c.442-6031A>T (n.442-6031A>T)
2g.233761009_233761010delCA209273UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6025_856-6024del (n.856-6025_856-6024del)
c.868-6025_868-6024del (n.868-6025_868-6024del)
c.862-6025_862-6024del (n.862-6025_862-6024del)
c.722_723del (p.Glu241GlyfsTer16)
c.61-6025_61-6024del (n.61-6025_61-6024del)
c.442-6025_442-6024del (n.442-6025_442-6024del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761004G>ACA431960849UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6030G>A (n.856-6030G>A)
c.868-6030G>A (n.868-6030G>A)
c.862-6030G>A (n.862-6030G>A)
c.717G>A (p.Gln239=)
c.61-6030G>A (n.61-6030G>A)
c.442-6030G>A (n.442-6030G>A)
 gnomAD v4
2g.233761004G>CCA351068015UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6030G>C (n.856-6030G>C)
c.868-6030G>C (n.868-6030G>C)
c.862-6030G>C (n.862-6030G>C)
c.717G>C (p.Gln239His)
c.61-6030G>C (n.61-6030G>C)
c.442-6030G>C (n.442-6030G>C)
2g.233761004G>TCA351068017UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6030G>T (n.856-6030G>T)
c.868-6030G>T (n.868-6030G>T)
c.862-6030G>T (n.862-6030G>T)
c.717G>T (p.Gln239His)
c.61-6030G>T (n.61-6030G>T)
c.442-6030G>T (n.442-6030G>T)
2g.233761005A=CA1335889836UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6029A= (n.856-6029A=)
c.868-6029A= (n.868-6029A=)
c.862-6029A= (n.862-6029A=)
c.718A= (p.Arg240=)
c.61-6029A= (n.61-6029A=)
c.442-6029A= (n.442-6029A=)
2g.233761005A>CCA431960850UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6029A>C (n.856-6029A>C)
c.868-6029A>C (n.868-6029A>C)
c.862-6029A>C (n.862-6029A>C)
c.718A>C (p.Arg240=)
c.61-6029A>C (n.61-6029A>C)
c.442-6029A>C (n.442-6029A>C)
2g.233761005A>GCA351068019UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6029A>G (n.856-6029A>G)
c.868-6029A>G (n.868-6029A>G)
c.862-6029A>G (n.862-6029A>G)
c.718A>G (p.Arg240Gly)
c.61-6029A>G (n.61-6029A>G)
c.442-6029A>G (n.442-6029A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.233761005A>TCA351068020UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6029A>T (n.856-6029A>T)
c.868-6029A>T (n.868-6029A>T)
c.862-6029A>T (n.862-6029A>T)
c.718A>T (p.Arg240Ter)
c.61-6029A>T (n.61-6029A>T)
c.442-6029A>T (n.442-6029A>T)
2g.233761006G>ACA2179877UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6028G>A (n.856-6028G>A)
c.868-6028G>A (n.868-6028G>A)
c.862-6028G>A (n.862-6028G>A)
c.719G>A (p.Arg240Lys)
c.61-6028G>A (n.61-6028G>A)
c.442-6028G>A (n.442-6028G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761006G>CCA351068023UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6028G>C (n.856-6028G>C)
c.868-6028G>C (n.868-6028G>C)
c.862-6028G>C (n.862-6028G>C)
c.719G>C (p.Arg240Thr)
c.61-6028G>C (n.61-6028G>C)
c.442-6028G>C (n.442-6028G>C)
2g.233761006G=CA1335889839UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6028G= (n.856-6028G=)
c.868-6028G= (n.868-6028G=)
c.862-6028G= (n.862-6028G=)
c.719G= (p.Arg240=)
c.61-6028G= (n.61-6028G=)
c.442-6028G= (n.442-6028G=)
2g.233761006G>TCA351068022UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6028G>T (n.856-6028G>T)
c.868-6028G>T (n.868-6028G>T)
c.862-6028G>T (n.862-6028G>T)
c.719G>T (p.Arg240Ile)
c.61-6028G>T (n.61-6028G>T)
c.442-6028G>T (n.442-6028G>T)
2g.233761007A>CCA351068024UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6027A>C (n.856-6027A>C)
c.868-6027A>C (n.868-6027A>C)
c.862-6027A>C (n.862-6027A>C)
c.720A>C (p.Arg240Ser)
c.61-6027A>C (n.61-6027A>C)
c.442-6027A>C (n.442-6027A>C)
2g.233761007A>GCA431960851UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6027A>G (n.856-6027A>G)
c.868-6027A>G (n.868-6027A>G)
c.862-6027A>G (n.862-6027A>G)
c.720A>G (p.Arg240=)
c.61-6027A>G (n.61-6027A>G)
c.442-6027A>G (n.442-6027A>G)
2g.233761007A>TCA351068026UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6027A>T (n.856-6027A>T)
c.868-6027A>T (n.868-6027A>T)
c.862-6027A>T (n.862-6027A>T)
c.720A>T (p.Arg240Ser)
c.61-6027A>T (n.61-6027A>T)
c.442-6027A>T (n.442-6027A>T)
2g.233761008G>ACA351068027UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6026G>A (n.856-6026G>A)
c.868-6026G>A (n.868-6026G>A)
c.862-6026G>A (n.862-6026G>A)
c.721G>A (p.Glu241Lys)
c.61-6026G>A (n.61-6026G>A)
c.442-6026G>A (n.442-6026G>A)
2g.233761008G>CCA351068029UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6026G>C (n.856-6026G>C)
c.868-6026G>C (n.868-6026G>C)
c.862-6026G>C (n.862-6026G>C)
c.721G>C (p.Glu241Gln)
c.61-6026G>C (n.61-6026G>C)
c.442-6026G>C (n.442-6026G>C)
2g.233761008G>TCA351068030UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6026G>T (n.856-6026G>T)
c.868-6026G>T (n.868-6026G>T)
c.862-6026G>T (n.862-6026G>T)
c.721G>T (p.Glu241Ter)
c.61-6026G>T (n.61-6026G>T)
c.442-6026G>T (n.442-6026G>T)
2g.233761009A=CA1335889843UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6025A= (n.856-6025A=)
c.868-6025A= (n.868-6025A=)
c.862-6025A= (n.862-6025A=)
c.722A= (p.Glu241=)
c.61-6025A= (n.61-6025A=)
c.442-6025A= (n.442-6025A=)
2g.233761009A>CCA351068034UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6025A>C (n.856-6025A>C)
c.868-6025A>C (n.868-6025A>C)
c.862-6025A>C (n.862-6025A>C)
c.722A>C (p.Glu241Ala)
c.61-6025A>C (n.61-6025A>C)
c.442-6025A>C (n.442-6025A>C)
2g.233761009A>GCA351068037UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6025A>G (n.856-6025A>G)
c.868-6025A>G (n.868-6025A>G)
c.862-6025A>G (n.862-6025A>G)
c.722A>G (p.Glu241Gly)
c.61-6025A>G (n.61-6025A>G)
c.442-6025A>G (n.442-6025A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.233761009A>TCA351068039UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6025A>T (n.856-6025A>T)
c.868-6025A>T (n.868-6025A>T)
c.862-6025A>T (n.862-6025A>T)
c.722A>T (p.Glu241Val)
c.61-6025A>T (n.61-6025A>T)
c.442-6025A>T (n.442-6025A>T)
 gnomAD v4
2g.233761010G>ACA431960852UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6024G>A (n.856-6024G>A)
c.868-6024G>A (n.868-6024G>A)
c.862-6024G>A (n.862-6024G>A)
c.723G>A (p.Glu241=)
c.61-6024G>A (n.61-6024G>A)
c.442-6024G>A (n.442-6024G>A)
2g.233761010G>CCA351068042UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6024G>C (n.856-6024G>C)
c.868-6024G>C (n.868-6024G>C)
c.862-6024G>C (n.862-6024G>C)
c.723G>C (p.Glu241Asp)
c.61-6024G>C (n.61-6024G>C)
c.442-6024G>C (n.442-6024G>C)
2g.233761010G>TCA351068045UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6024G>T (n.856-6024G>T)
c.868-6024G>T (n.868-6024G>T)
c.862-6024G>T (n.862-6024G>T)
c.723G>T (p.Glu241Asp)
c.61-6024G>T (n.61-6024G>T)
c.442-6024G>T (n.442-6024G>T)
2g.233761011G>ACA351068050UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6023G>A (n.856-6023G>A)
c.868-6023G>A (n.868-6023G>A)
c.862-6023G>A (n.862-6023G>A)
c.724G>A (p.Val242Met)
c.61-6023G>A (n.61-6023G>A)
c.442-6023G>A (n.442-6023G>A)
 gnomAD v4
2g.233761011G>CCA351068053UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6023G>C (n.856-6023G>C)
c.868-6023G>C (n.868-6023G>C)
c.862-6023G>C (n.862-6023G>C)
c.724G>C (p.Val242Leu)
c.61-6023G>C (n.61-6023G>C)
c.442-6023G>C (n.442-6023G>C)
2g.233761011G>TCA351068048UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6023G>T (n.856-6023G>T)
c.868-6023G>T (n.868-6023G>T)
c.862-6023G>T (n.862-6023G>T)
c.724G>T (p.Val242Leu)
c.61-6023G>T (n.61-6023G>T)
c.442-6023G>T (n.442-6023G>T)
 gnomAD v4
2g.233761011_233761014delinsGTGACA1335889845UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6023_856-6020delinsGTGA (n.856-6023_856-6020delinsGTGA)
c.868-6023_868-6020delinsGTGA (n.868-6023_868-6020delinsGTGA)
c.862-6023_862-6020delinsGTGA (n.862-6023_862-6020delinsGTGA)
c.724_727delinsGTGA (p.Val242=)
c.61-6023_61-6020delinsGTGA (n.61-6023_61-6020delinsGTGA)
c.442-6023_442-6020delinsGTGA (n.442-6023_442-6020delinsGTGA)
2g.233761012delCA2580066077UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6022del (n.856-6022del)
c.868-6022del (n.868-6022del)
c.862-6022del (n.862-6022del)
c.725del (p.Val242GlyfsTer7)
c.61-6022del (n.61-6022del)
c.442-6022del (n.442-6022del)
 ClinVar dbSNP
2g.233761012T>ACA351068062UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6022T>A (n.856-6022T>A)
c.868-6022T>A (n.868-6022T>A)
c.862-6022T>A (n.862-6022T>A)
c.725T>A (p.Val242Glu)
c.61-6022T>A (n.61-6022T>A)
c.442-6022T>A (n.442-6022T>A)
2g.233761012T>CCA351068057UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6022T>C (n.856-6022T>C)
c.868-6022T>C (n.868-6022T>C)
c.862-6022T>C (n.862-6022T>C)
c.725T>C (p.Val242Ala)
c.61-6022T>C (n.61-6022T>C)
c.442-6022T>C (n.442-6022T>C)
2g.233761012T>GCA351068059UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6022T>G (n.856-6022T>G)
c.868-6022T>G (n.868-6022T>G)
c.862-6022T>G (n.862-6022T>G)
c.725T>G (p.Val242Gly)
c.61-6022T>G (n.61-6022T>G)
c.442-6022T>G (n.442-6022T>G)
2g.233761012_233761014delCA2179878UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6022_856-6020del (n.856-6022_856-6020del)
c.868-6022_868-6020del (n.868-6022_868-6020del)
c.862-6022_862-6020del (n.862-6022_862-6020del)
c.725_727del (p.Val242_Thr243delinsAla)
c.61-6022_61-6020del (n.61-6022_61-6020del)
c.442-6022_442-6020del (n.442-6022_442-6020del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761013G>ACA431960855UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6021G>A (n.856-6021G>A)
c.868-6021G>A (n.868-6021G>A)
c.862-6021G>A (n.862-6021G>A)
c.726G>A (p.Val242=)
c.61-6021G>A (n.61-6021G>A)
c.442-6021G>A (n.442-6021G>A)
 gnomAD v4
2g.233761013G>CCA431960854UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6021G>C (n.856-6021G>C)
c.868-6021G>C (n.868-6021G>C)
c.862-6021G>C (n.862-6021G>C)
c.726G>C (p.Val242=)
c.61-6021G>C (n.61-6021G>C)
c.442-6021G>C (n.442-6021G>C)
2g.233761013G>TCA431960853UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6021G>T (n.856-6021G>T)
c.868-6021G>T (n.868-6021G>T)
c.862-6021G>T (n.862-6021G>T)
c.726G>T (p.Val242=)
c.61-6021G>T (n.61-6021G>T)
c.442-6021G>T (n.442-6021G>T)
2g.233761014A=CA1335889848UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6020A= (n.856-6020A=)
c.868-6020A= (n.868-6020A=)
c.862-6020A= (n.862-6020A=)
c.727A= (p.Thr243=)
c.61-6020A= (n.61-6020A=)
c.442-6020A= (n.442-6020A=)
2g.233761014A>CCA351068065UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6020A>C (n.856-6020A>C)
c.868-6020A>C (n.868-6020A>C)
c.862-6020A>C (n.862-6020A>C)
c.727A>C (p.Thr243Pro)
c.61-6020A>C (n.61-6020A>C)
c.442-6020A>C (n.442-6020A>C)
2g.233761014A>GCA2179879UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6020A>G (n.856-6020A>G)
c.868-6020A>G (n.868-6020A>G)
c.862-6020A>G (n.862-6020A>G)
c.727A>G (p.Thr243Ala)
c.61-6020A>G (n.61-6020A>G)
c.442-6020A>G (n.442-6020A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761014A>TCA351068068UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6020A>T (n.856-6020A>T)
c.868-6020A>T (n.868-6020A>T)
c.862-6020A>T (n.862-6020A>T)
c.727A>T (p.Thr243Ser)
c.61-6020A>T (n.61-6020A>T)
c.442-6020A>T (n.442-6020A>T)
2g.233761015C>ACA2179880UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6019C>A (n.856-6019C>A)
c.868-6019C>A (n.868-6019C>A)
c.862-6019C>A (n.862-6019C>A)
c.728C>A (p.Thr243Asn)
c.61-6019C>A (n.61-6019C>A)
c.442-6019C>A (n.442-6019C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761015C=CA1335889850UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6019C= (n.856-6019C=)
c.868-6019C= (n.868-6019C=)
c.862-6019C= (n.862-6019C=)
c.728C= (p.Thr243=)
c.61-6019C= (n.61-6019C=)
c.442-6019C= (n.442-6019C=)
2g.233761015C>GCA351068075UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6019C>G (n.856-6019C>G)
c.868-6019C>G (n.868-6019C>G)
c.862-6019C>G (n.862-6019C>G)
c.728C>G (p.Thr243Ser)
c.61-6019C>G (n.61-6019C>G)
c.442-6019C>G (n.442-6019C>G)
 dbSNP
2g.233761015C>TCA351068072UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6019C>T (n.856-6019C>T)
c.868-6019C>T (n.868-6019C>T)
c.862-6019C>T (n.862-6019C>T)
c.728C>T (p.Thr243Ile)
c.61-6019C>T (n.61-6019C>T)
c.442-6019C>T (n.442-6019C>T)
2g.233761016T>ACA431960857UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6018T>A (n.856-6018T>A)
c.868-6018T>A (n.868-6018T>A)
c.862-6018T>A (n.862-6018T>A)
c.729T>A (p.Thr243=)
c.61-6018T>A (n.61-6018T>A)
c.442-6018T>A (n.442-6018T>A)
2g.233761016T>CCA431960858UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6018T>C (n.856-6018T>C)
c.868-6018T>C (n.868-6018T>C)
c.862-6018T>C (n.862-6018T>C)
c.729T>C (p.Thr243=)
c.61-6018T>C (n.61-6018T>C)
c.442-6018T>C (n.442-6018T>C)
2g.233761016T>GCA431960856UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6018T>G (n.856-6018T>G)
c.868-6018T>G (n.868-6018T>G)
c.862-6018T>G (n.862-6018T>G)
c.729T>G (p.Thr243=)
c.61-6018T>G (n.61-6018T>G)
c.442-6018T>G (n.442-6018T>G)
2g.233761017G>ACA351068078UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6017G>A (n.856-6017G>A)
c.868-6017G>A (n.868-6017G>A)
c.862-6017G>A (n.862-6017G>A)
c.730G>A (p.Val244Ile)
c.61-6017G>A (n.61-6017G>A)
c.442-6017G>A (n.442-6017G>A)
 dbSNP gnomAD v4
2g.233761017G>CCA351068081UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6017G>C (n.856-6017G>C)
c.868-6017G>C (n.868-6017G>C)
c.862-6017G>C (n.862-6017G>C)
c.730G>C (p.Val244Leu)
c.61-6017G>C (n.61-6017G>C)
c.442-6017G>C (n.442-6017G>C)
 dbSNP gnomAD v2
2g.233761017G=CA1335889853UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6017G= (n.856-6017G=)
c.868-6017G= (n.868-6017G=)
c.862-6017G= (n.862-6017G=)
c.730G= (p.Val244=)
c.61-6017G= (n.61-6017G=)
c.442-6017G= (n.442-6017G=)
2g.233761017G>TCA351068084UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6017G>T (n.856-6017G>T)
c.868-6017G>T (n.868-6017G>T)
c.862-6017G>T (n.862-6017G>T)
c.730G>T (p.Val244Phe)
c.61-6017G>T (n.61-6017G>T)
c.442-6017G>T (n.442-6017G>T)
 COSMIC COSMIC
2g.233761018T>ACA351068086UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6016T>A (n.856-6016T>A)
c.868-6016T>A (n.868-6016T>A)
c.862-6016T>A (n.862-6016T>A)
c.731T>A (p.Val244Asp)
c.61-6016T>A (n.61-6016T>A)
c.442-6016T>A (n.442-6016T>A)
2g.233761018T>CCA351068087UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6016T>C (n.856-6016T>C)
c.868-6016T>C (n.868-6016T>C)
c.862-6016T>C (n.862-6016T>C)
c.731T>C (p.Val244Ala)
c.61-6016T>C (n.61-6016T>C)
c.442-6016T>C (n.442-6016T>C)
2g.233761018T>GCA351068090UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6016T>G (n.856-6016T>G)
c.868-6016T>G (n.868-6016T>G)
c.862-6016T>G (n.862-6016T>G)
c.731T>G (p.Val244Gly)
c.61-6016T>G (n.61-6016T>G)
c.442-6016T>G (n.442-6016T>G)
2g.233761019C>ACA431960859UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6015C>A (n.856-6015C>A)
c.868-6015C>A (n.868-6015C>A)
c.862-6015C>A (n.862-6015C>A)
c.732C>A (p.Val244=)
c.61-6015C>A (n.61-6015C>A)
c.442-6015C>A (n.442-6015C>A)
 dbSNP
2g.233761019C=CA1335889856UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6015C= (n.856-6015C=)
c.868-6015C= (n.868-6015C=)
c.862-6015C= (n.862-6015C=)
c.732C= (p.Val244=)
c.61-6015C= (n.61-6015C=)
c.442-6015C= (n.442-6015C=)
2g.233761019C>GCA431960860UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6015C>G (n.856-6015C>G)
c.868-6015C>G (n.868-6015C>G)
c.862-6015C>G (n.862-6015C>G)
c.732C>G (p.Val244=)
c.61-6015C>G (n.61-6015C>G)
c.442-6015C>G (n.442-6015C>G)
 dbSNP
2g.233761019C>TCA431960861UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6015C>T (n.856-6015C>T)
c.868-6015C>T (n.868-6015C>T)
c.862-6015C>T (n.862-6015C>T)
c.732C>T (p.Val244=)
c.61-6015C>T (n.61-6015C>T)
c.442-6015C>T (n.442-6015C>T)
2g.233761020C>ACA351068095UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6014C>A (n.856-6014C>A)
c.868-6014C>A (n.868-6014C>A)
c.862-6014C>A (n.862-6014C>A)
c.733C>A (p.Gln245Lys)
c.61-6014C>A (n.61-6014C>A)
c.442-6014C>A (n.442-6014C>A)
2g.233761020C=CA1335889859UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6014C= (n.856-6014C=)
c.868-6014C= (n.868-6014C=)
c.862-6014C= (n.862-6014C=)
c.733C= (p.Gln245=)
c.61-6014C= (n.61-6014C=)
c.442-6014C= (n.442-6014C=)
2g.233761020C>GCA351068099UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6014C>G (n.856-6014C>G)
c.868-6014C>G (n.868-6014C>G)
c.862-6014C>G (n.862-6014C>G)
c.733C>G (p.Gln245Glu)
c.61-6014C>G (n.61-6014C>G)
c.442-6014C>G (n.442-6014C>G)
2g.233761020C>TCA351068096UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6014C>T (n.856-6014C>T)
c.868-6014C>T (n.868-6014C>T)
c.862-6014C>T (n.862-6014C>T)
c.733C>T (p.Gln245Ter)
c.61-6014C>T (n.61-6014C>T)
c.442-6014C>T (n.442-6014C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233761021A>CCA351068102UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6013A>C (n.856-6013A>C)
c.868-6013A>C (n.868-6013A>C)
c.862-6013A>C (n.862-6013A>C)
c.734A>C (p.Gln245Pro)
c.61-6013A>C (n.61-6013A>C)
c.442-6013A>C (n.442-6013A>C)
2g.233761021A>GCA351068104UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6013A>G (n.856-6013A>G)
c.868-6013A>G (n.868-6013A>G)
c.862-6013A>G (n.862-6013A>G)
c.734A>G (p.Gln245Arg)
c.61-6013A>G (n.61-6013A>G)
c.442-6013A>G (n.442-6013A>G)
2g.233761021A>TCA351068105UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6013A>T (n.856-6013A>T)
c.868-6013A>T (n.868-6013A>T)
c.862-6013A>T (n.862-6013A>T)
c.734A>T (p.Gln245Leu)
c.61-6013A>T (n.61-6013A>T)
c.442-6013A>T (n.442-6013A>T)
2g.233761022G>ACA2179881UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6012G>A (n.856-6012G>A)
c.868-6012G>A (n.868-6012G>A)
c.862-6012G>A (n.862-6012G>A)
c.735G>A (p.Gln245=)
c.61-6012G>A (n.61-6012G>A)
c.442-6012G>A (n.442-6012G>A)
 dbSNP ExAC gnomAD v4
2g.233761022G>CCA351068108UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6012G>C (n.856-6012G>C)
c.868-6012G>C (n.868-6012G>C)
c.862-6012G>C (n.862-6012G>C)
c.735G>C (p.Gln245His)
c.61-6012G>C (n.61-6012G>C)
c.442-6012G>C (n.442-6012G>C)
2g.233761022G=CA1335889865UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6012G= (n.856-6012G=)
c.868-6012G= (n.868-6012G=)
c.862-6012G= (n.862-6012G=)
c.735G= (p.Gln245=)
c.61-6012G= (n.61-6012G=)
c.442-6012G= (n.442-6012G=)
2g.233761022G>TCA351068110UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6012G>T (n.856-6012G>T)
c.868-6012G>T (n.868-6012G>T)
c.862-6012G>T (n.862-6012G>T)
c.735G>T (p.Gln245His)
c.61-6012G>T (n.61-6012G>T)
c.442-6012G>T (n.442-6012G>T)
2g.233761023G>ACA351068112UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6011G>A (n.856-6011G>A)
c.868-6011G>A (n.868-6011G>A)
c.862-6011G>A (n.862-6011G>A)
c.736G>A (p.Asp246Asn)
c.61-6011G>A (n.61-6011G>A)
c.442-6011G>A (n.442-6011G>A)
 dbSNP
2g.233761023G>CCA351068114UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6011G>C (n.856-6011G>C)
c.868-6011G>C (n.868-6011G>C)
c.862-6011G>C (n.862-6011G>C)
c.736G>C (p.Asp246His)
c.61-6011G>C (n.61-6011G>C)
c.442-6011G>C (n.442-6011G>C)
2g.233761023G>TCA351068117UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6011G>T (n.856-6011G>T)
c.868-6011G>T (n.868-6011G>T)
c.862-6011G>T (n.862-6011G>T)
c.736G>T (p.Asp246Tyr)
c.61-6011G>T (n.61-6011G>T)
c.442-6011G>T (n.442-6011G>T)
2g.233761024A>CCA351068120UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6010A>C (n.856-6010A>C)
c.868-6010A>C (n.868-6010A>C)
c.862-6010A>C (n.862-6010A>C)
c.737A>C (p.Asp246Ala)
c.61-6010A>C (n.61-6010A>C)
c.442-6010A>C (n.442-6010A>C)
2g.233761024A>GCA351068123UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6010A>G (n.856-6010A>G)
c.868-6010A>G (n.868-6010A>G)
c.862-6010A>G (n.862-6010A>G)
c.737A>G (p.Asp246Gly)
c.61-6010A>G (n.61-6010A>G)
c.442-6010A>G (n.442-6010A>G)
2g.233761024A>TCA351068124UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6010A>T (n.856-6010A>T)
c.868-6010A>T (n.868-6010A>T)
c.862-6010A>T (n.862-6010A>T)
c.737A>T (p.Asp246Val)
c.61-6010A>T (n.61-6010A>T)
c.442-6010A>T (n.442-6010A>T)
 gnomAD v4
2g.233761025C>ACA351068126UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6009C>A (n.856-6009C>A)
c.868-6009C>A (n.868-6009C>A)
c.862-6009C>A (n.862-6009C>A)
c.738C>A (p.Asp246Glu)
c.61-6009C>A (n.61-6009C>A)
c.442-6009C>A (n.442-6009C>A)
 dbSNP
2g.233761025C>GCA351068129UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6009C>G (n.856-6009C>G)
c.868-6009C>G (n.868-6009C>G)
c.862-6009C>G (n.862-6009C>G)
c.738C>G (p.Asp246Glu)
c.61-6009C>G (n.61-6009C>G)
c.442-6009C>G (n.442-6009C>G)
2g.233761025C>TCA431960862UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6009C>T (n.856-6009C>T)
c.868-6009C>T (n.868-6009C>T)
c.862-6009C>T (n.862-6009C>T)
c.738C>T (p.Asp246=)
c.61-6009C>T (n.61-6009C>T)
c.442-6009C>T (n.442-6009C>T)
2g.233761026C>ACA351068132UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6008C>A (n.856-6008C>A)
c.868-6008C>A (n.868-6008C>A)
c.862-6008C>A (n.862-6008C>A)
c.739C>A (p.Leu247Ile)
c.61-6008C>A (n.61-6008C>A)
c.442-6008C>A (n.442-6008C>A)
2g.233761026C>GCA351068134UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6008C>G (n.856-6008C>G)
c.868-6008C>G (n.868-6008C>G)
c.862-6008C>G (n.862-6008C>G)
c.739C>G (p.Leu247Val)
c.61-6008C>G (n.61-6008C>G)
c.442-6008C>G (n.442-6008C>G)
2g.233761026C>TCA431960863UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6008C>T (n.856-6008C>T)
c.868-6008C>T (n.868-6008C>T)
c.862-6008C>T (n.862-6008C>T)
c.739C>T (p.Leu247=)
c.61-6008C>T (n.61-6008C>T)
c.442-6008C>T (n.442-6008C>T)
2g.233761027T>ACA351068137UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6007T>A (n.856-6007T>A)
c.868-6007T>A (n.868-6007T>A)
c.862-6007T>A (n.862-6007T>A)
c.740T>A (p.Leu247Gln)
c.61-6007T>A (n.61-6007T>A)
c.442-6007T>A (n.442-6007T>A)
2g.233761027T>CCA351068140UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6007T>C (n.856-6007T>C)
c.868-6007T>C (n.868-6007T>C)
c.862-6007T>C (n.862-6007T>C)
c.740T>C (p.Leu247Pro)
c.61-6007T>C (n.61-6007T>C)
c.442-6007T>C (n.442-6007T>C)
2g.233761027T>GCA351068142UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6007T>G (n.856-6007T>G)
c.868-6007T>G (n.868-6007T>G)
c.862-6007T>G (n.862-6007T>G)
c.740T>G (p.Leu247Arg)
c.61-6007T>G (n.61-6007T>G)
c.442-6007T>G (n.442-6007T>G)
2g.233761028A=CA1335889867UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6006A= (n.856-6006A=)
c.868-6006A= (n.868-6006A=)
c.862-6006A= (n.862-6006A=)
c.741A= (p.Leu247=)
c.61-6006A= (n.61-6006A=)
c.442-6006A= (n.442-6006A=)
2g.233761028A>CCA431960865UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6006A>C (n.856-6006A>C)
c.868-6006A>C (n.868-6006A>C)
c.862-6006A>C (n.862-6006A>C)
c.741A>C (p.Leu247=)
c.61-6006A>C (n.61-6006A>C)
c.442-6006A>C (n.442-6006A>C)
2g.233761028A>GCA431960864UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6006A>G (n.856-6006A>G)
c.868-6006A>G (n.868-6006A>G)
c.862-6006A>G (n.862-6006A>G)
c.741A>G (p.Leu247=)
c.61-6006A>G (n.61-6006A>G)
c.442-6006A>G (n.442-6006A>G)
 ClinVar dbSNP gnomAD v4
2g.233761028A>TCA431960866UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6006A>T (n.856-6006A>T)
c.868-6006A>T (n.868-6006A>T)
c.862-6006A>T (n.862-6006A>T)
c.741A>T (p.Leu247=)
c.61-6006A>T (n.61-6006A>T)
c.442-6006A>T (n.442-6006A>T)
2g.233761029T>ACA351068145UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6005T>A (n.856-6005T>A)
c.868-6005T>A (n.868-6005T>A)
c.862-6005T>A (n.862-6005T>A)
c.742T>A (p.Leu248Met)
c.61-6005T>A (n.61-6005T>A)
c.442-6005T>A (n.442-6005T>A)
2g.233761029T>CCA2179882UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6005T>C (n.856-6005T>C)
c.868-6005T>C (n.868-6005T>C)
c.862-6005T>C (n.862-6005T>C)
c.742T>C (p.Leu248=)
c.61-6005T>C (n.61-6005T>C)
c.442-6005T>C (n.442-6005T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761029T>GCA351068148UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6005T>G (n.856-6005T>G)
c.868-6005T>G (n.868-6005T>G)
c.862-6005T>G (n.862-6005T>G)
c.742T>G (p.Leu248Val)
c.61-6005T>G (n.61-6005T>G)
c.442-6005T>G (n.442-6005T>G)
2g.233761029T=CA1335889871UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6005T= (n.856-6005T=)
c.868-6005T= (n.868-6005T=)
c.862-6005T= (n.862-6005T=)
c.742T= (p.Leu248=)
c.61-6005T= (n.61-6005T=)
c.442-6005T= (n.442-6005T=)
2g.233761030T>ACA351068150UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6004T>A (n.856-6004T>A)
c.868-6004T>A (n.868-6004T>A)
c.862-6004T>A (n.862-6004T>A)
c.743T>A (p.Leu248Ter)
c.61-6004T>A (n.61-6004T>A)
c.442-6004T>A (n.442-6004T>A)
2g.233761030T>CCA351068152UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6004T>C (n.856-6004T>C)
c.868-6004T>C (n.868-6004T>C)
c.862-6004T>C (n.862-6004T>C)
c.743T>C (p.Leu248Ser)
c.61-6004T>C (n.61-6004T>C)
c.442-6004T>C (n.442-6004T>C)
2g.233761030T>GCA351068154UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6004T>G (n.856-6004T>G)
c.868-6004T>G (n.868-6004T>G)
c.862-6004T>G (n.862-6004T>G)
c.743T>G (p.Leu248Trp)
c.61-6004T>G (n.61-6004T>G)
c.442-6004T>G (n.442-6004T>G)
 gnomAD v4
2g.233761031G>ACA431960867UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6003G>A (n.856-6003G>A)
c.868-6003G>A (n.868-6003G>A)
c.862-6003G>A (n.862-6003G>A)
c.744G>A (p.Leu248=)
c.61-6003G>A (n.61-6003G>A)
c.442-6003G>A (n.442-6003G>A)
2g.233761031G>CCA351068155UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6003G>C (n.856-6003G>C)
c.868-6003G>C (n.868-6003G>C)
c.862-6003G>C (n.862-6003G>C)
c.744G>C (p.Leu248Phe)
c.61-6003G>C (n.61-6003G>C)
c.442-6003G>C (n.442-6003G>C)
2g.233761031G>TCA351068157UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6003G>T (n.856-6003G>T)
c.868-6003G>T (n.868-6003G>T)
c.862-6003G>T (n.862-6003G>T)
c.744G>T (p.Leu248Phe)
c.61-6003G>T (n.61-6003G>T)
c.442-6003G>T (n.442-6003G>T)
2g.233761032A>CCA351068163UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6002A>C (n.856-6002A>C)
c.868-6002A>C (n.868-6002A>C)
c.862-6002A>C (n.862-6002A>C)
c.745A>C (p.Ser249Arg)
c.61-6002A>C (n.61-6002A>C)
c.442-6002A>C (n.442-6002A>C)
2g.233761032A>GCA351068164UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6002A>G (n.856-6002A>G)
c.868-6002A>G (n.868-6002A>G)
c.862-6002A>G (n.862-6002A>G)
c.745A>G (p.Ser249Gly)
c.61-6002A>G (n.61-6002A>G)
c.442-6002A>G (n.442-6002A>G)
2g.233761032A>TCA351068160UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6002A>T (n.856-6002A>T)
c.868-6002A>T (n.868-6002A>T)
c.862-6002A>T (n.862-6002A>T)
c.745A>T (p.Ser249Cys)
c.61-6002A>T (n.61-6002A>T)
c.442-6002A>T (n.442-6002A>T)
2g.233761033G>ACA351068166UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6001G>A (n.856-6001G>A)
c.868-6001G>A (n.868-6001G>A)
c.862-6001G>A (n.862-6001G>A)
c.746G>A (p.Ser249Asn)
c.61-6001G>A (n.61-6001G>A)
c.442-6001G>A (n.442-6001G>A)
 dbSNP gnomAD v4
2g.233761033G>CCA351068168UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6001G>C (n.856-6001G>C)
c.868-6001G>C (n.868-6001G>C)
c.862-6001G>C (n.862-6001G>C)
c.746G>C (p.Ser249Thr)
c.61-6001G>C (n.61-6001G>C)
c.442-6001G>C (n.442-6001G>C)
2g.233761033G=CA1335889874UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6001G= (n.856-6001G=)
c.868-6001G= (n.868-6001G=)
c.862-6001G= (n.862-6001G=)
c.746G= (p.Ser249=)
c.61-6001G= (n.61-6001G=)
c.442-6001G= (n.442-6001G=)
2g.233761033G>TCA2179883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6001G>T (n.856-6001G>T)
c.868-6001G>T (n.868-6001G>T)
c.862-6001G>T (n.862-6001G>T)
c.746G>T (p.Ser249Ile)
c.61-6001G>T (n.61-6001G>T)
c.442-6001G>T (n.442-6001G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761034C>ACA351068171UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6000C>A (n.856-6000C>A)
c.868-6000C>A (n.868-6000C>A)
c.862-6000C>A (n.862-6000C>A)
c.747C>A (p.Ser249Arg)
c.61-6000C>A (n.61-6000C>A)
c.442-6000C>A (n.442-6000C>A)
2g.233761034C=CA1335889877UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6000C= (n.856-6000C=)
c.868-6000C= (n.868-6000C=)
c.862-6000C= (n.862-6000C=)
c.747C= (p.Ser249=)
c.61-6000C= (n.61-6000C=)
c.442-6000C= (n.442-6000C=)
2g.233761034C>GCA351068173UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6000C>G (n.856-6000C>G)
c.868-6000C>G (n.868-6000C>G)
c.862-6000C>G (n.862-6000C>G)
c.747C>G (p.Ser249Arg)
c.61-6000C>G (n.61-6000C>G)
c.442-6000C>G (n.442-6000C>G)
2g.233761034C>TCA431960868UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6000C>T (n.856-6000C>T)
c.868-6000C>T (n.868-6000C>T)
c.862-6000C>T (n.862-6000C>T)
c.747C>T (p.Ser249=)
c.61-6000C>T (n.61-6000C>T)
c.442-6000C>T (n.442-6000C>T)
 dbSNP
2g.233761035T>ACA351068181UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5999T>A (n.856-5999T>A)
c.868-5999T>A (n.868-5999T>A)
c.862-5999T>A (n.862-5999T>A)
c.748T>A (p.Ser250Thr)
c.61-5999T>A (n.61-5999T>A)
c.442-5999T>A (n.442-5999T>A)
2g.233761035T>CCA173885UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5999T>C (n.856-5999T>C)
c.868-5999T>C (n.868-5999T>C)
c.862-5999T>C (n.862-5999T>C)
c.748T>C (p.Ser250Pro)
c.61-5999T>C (n.61-5999T>C)
c.442-5999T>C (n.442-5999T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761035T>GCA351068176UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5999T>G (n.856-5999T>G)
c.868-5999T>G (n.868-5999T>G)
c.862-5999T>G (n.862-5999T>G)
c.748T>G (p.Ser250Ala)
c.61-5999T>G (n.61-5999T>G)
c.442-5999T>G (n.442-5999T>G)
2g.233761035T=CA1335889883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5999T= (n.856-5999T=)
c.868-5999T= (n.868-5999T=)
c.862-5999T= (n.862-5999T=)
c.748T= (p.Ser250=)
c.61-5999T= (n.61-5999T=)
c.442-5999T= (n.442-5999T=)
2g.233761036delCA2586965610UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5998del (n.856-5998del)
c.868-5998del (n.868-5998del)
c.862-5998del (n.862-5998del)
c.749del (p.Ser250LeufsTer12)
c.61-5998del (n.61-5998del)
c.442-5998del (n.442-5998del)
2g.233761036C>ACA351068184UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5998C>A (n.856-5998C>A)
c.868-5998C>A (n.868-5998C>A)
c.862-5998C>A (n.862-5998C>A)
c.749C>A (p.Ser250Tyr)
c.61-5998C>A (n.61-5998C>A)
c.442-5998C>A (n.442-5998C>A)
2g.233761036C>GCA351068185UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5998C>G (n.856-5998C>G)
c.868-5998C>G (n.868-5998C>G)
c.862-5998C>G (n.862-5998C>G)
c.749C>G (p.Ser250Cys)
c.61-5998C>G (n.61-5998C>G)
c.442-5998C>G (n.442-5998C>G)
 COSMIC COSMIC
2g.233761036C>TCA351068186UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5998C>T (n.856-5998C>T)
c.868-5998C>T (n.868-5998C>T)
c.862-5998C>T (n.862-5998C>T)
c.749C>T (p.Ser250Phe)
c.61-5998C>T (n.61-5998C>T)
c.442-5998C>T (n.442-5998C>T)
2g.233761037T>ACA431960870UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5997T>A (n.856-5997T>A)
c.868-5997T>A (n.868-5997T>A)
c.862-5997T>A (n.862-5997T>A)
c.750T>A (p.Ser250=)
c.61-5997T>A (n.61-5997T>A)
c.442-5997T>A (n.442-5997T>A)
2g.233761037T>CCA431960871UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5997T>C (n.856-5997T>C)
c.868-5997T>C (n.868-5997T>C)
c.862-5997T>C (n.862-5997T>C)
c.750T>C (p.Ser250=)
c.61-5997T>C (n.61-5997T>C)
c.442-5997T>C (n.442-5997T>C)
 dbSNP
2g.233761037T>GCA431960869UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5997T>G (n.856-5997T>G)
c.868-5997T>G (n.868-5997T>G)
c.862-5997T>G (n.862-5997T>G)
c.750T>G (p.Ser250=)
c.61-5997T>G (n.61-5997T>G)
c.442-5997T>G (n.442-5997T>G)
2g.233761037T=CA1335889887UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5997T= (n.856-5997T=)
c.868-5997T= (n.868-5997T=)
c.862-5997T= (n.862-5997T=)
c.750T= (p.Ser250=)
c.61-5997T= (n.61-5997T=)
c.442-5997T= (n.442-5997T=)
2g.233761038G>ACA351068189UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5996G>A (n.856-5996G>A)
c.868-5996G>A (n.868-5996G>A)
c.862-5996G>A (n.862-5996G>A)
c.751G>A (p.Ala251Thr)
c.61-5996G>A (n.61-5996G>A)
c.442-5996G>A (n.442-5996G>A)
 gnomAD v4
2g.233761038G>CCA351068191UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5996G>C (n.856-5996G>C)
c.868-5996G>C (n.868-5996G>C)
c.862-5996G>C (n.862-5996G>C)
c.751G>C (p.Ala251Pro)
c.61-5996G>C (n.61-5996G>C)
c.442-5996G>C (n.442-5996G>C)
2g.233761038G>TCA351068194UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5996G>T (n.856-5996G>T)
c.868-5996G>T (n.868-5996G>T)
c.862-5996G>T (n.862-5996G>T)
c.751G>T (p.Ala251Ser)
c.61-5996G>T (n.61-5996G>T)
c.442-5996G>T (n.442-5996G>T)
2g.233761039C>ACA351068196UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5995C>A (n.856-5995C>A)
c.868-5995C>A (n.868-5995C>A)
c.862-5995C>A (n.862-5995C>A)
c.752C>A (p.Ala251Glu)
c.61-5995C>A (n.61-5995C>A)
c.442-5995C>A (n.442-5995C>A)
2g.233761039C>GCA351068200UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5995C>G (n.856-5995C>G)
c.868-5995C>G (n.868-5995C>G)
c.862-5995C>G (n.862-5995C>G)
c.752C>G (p.Ala251Gly)
c.61-5995C>G (n.61-5995C>G)
c.442-5995C>G (n.442-5995C>G)
2g.233761039C>TCA351068198UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5995C>T (n.856-5995C>T)
c.868-5995C>T (n.868-5995C>T)
c.862-5995C>T (n.862-5995C>T)
c.752C>T (p.Ala251Val)
c.61-5995C>T (n.61-5995C>T)
c.442-5995C>T (n.442-5995C>T)
2g.233761040A=CA1335889890UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5994A= (n.856-5994A=)
c.868-5994A= (n.868-5994A=)
c.862-5994A= (n.862-5994A=)
c.753A= (p.Ala251=)
c.61-5994A= (n.61-5994A=)
c.442-5994A= (n.442-5994A=)
2g.233761040A>CCA431960873UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5994A>C (n.856-5994A>C)
c.868-5994A>C (n.868-5994A>C)
c.862-5994A>C (n.862-5994A>C)
c.753A>C (p.Ala251=)
c.61-5994A>C (n.61-5994A>C)
c.442-5994A>C (n.442-5994A>C)
2g.233761040A>GCA431960874UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5994A>G (n.856-5994A>G)
c.868-5994A>G (n.868-5994A>G)
c.862-5994A>G (n.862-5994A>G)
c.753A>G (p.Ala251=)
c.61-5994A>G (n.61-5994A>G)
c.442-5994A>G (n.442-5994A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.233761040A>TCA431960872UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5994A>T (n.856-5994A>T)
c.868-5994A>T (n.868-5994A>T)
c.862-5994A>T (n.862-5994A>T)
c.753A>T (p.Ala251=)
c.61-5994A>T (n.61-5994A>T)
c.442-5994A>T (n.442-5994A>T)
2g.233761041T>ACA351068203UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5993T>A (n.856-5993T>A)
c.868-5993T>A (n.868-5993T>A)
c.862-5993T>A (n.862-5993T>A)
c.754T>A (p.Ser252Thr)
c.61-5993T>A (n.61-5993T>A)
c.442-5993T>A (n.442-5993T>A)
2g.233761041T>CCA351068208UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5993T>C (n.856-5993T>C)
c.868-5993T>C (n.868-5993T>C)
c.862-5993T>C (n.862-5993T>C)
c.754T>C (p.Ser252Pro)
c.61-5993T>C (n.61-5993T>C)
c.442-5993T>C (n.442-5993T>C)
2g.233761041T>GCA351068205UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5993T>G (n.856-5993T>G)
c.868-5993T>G (n.868-5993T>G)
c.862-5993T>G (n.862-5993T>G)
c.754T>G (p.Ser252Ala)
c.61-5993T>G (n.61-5993T>G)
c.442-5993T>G (n.442-5993T>G)
2g.233761042C>ACA351068212UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5992C>A (n.856-5992C>A)
c.868-5992C>A (n.868-5992C>A)
c.862-5992C>A (n.862-5992C>A)
c.755C>A (p.Ser252Tyr)
c.61-5992C>A (n.61-5992C>A)
c.442-5992C>A (n.442-5992C>A)
 gnomAD v4
2g.233761042C>GCA351068214UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5992C>G (n.856-5992C>G)
c.868-5992C>G (n.868-5992C>G)
c.862-5992C>G (n.862-5992C>G)
c.755C>G (p.Ser252Cys)
c.61-5992C>G (n.61-5992C>G)
c.442-5992C>G (n.442-5992C>G)
 gnomAD v4
2g.233761042C>TCA351068216UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5992C>T (n.856-5992C>T)
c.868-5992C>T (n.868-5992C>T)
c.862-5992C>T (n.862-5992C>T)
c.755C>T (p.Ser252Phe)
c.61-5992C>T (n.61-5992C>T)
c.442-5992C>T (n.442-5992C>T)
2g.233761043T>ACA431960877UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5991T>A (n.856-5991T>A)
c.868-5991T>A (n.868-5991T>A)
c.862-5991T>A (n.862-5991T>A)
c.756T>A (p.Ser252=)
c.61-5991T>A (n.61-5991T>A)
c.442-5991T>A (n.442-5991T>A)
2g.233761043T>CCA431960875UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5991T>C (n.856-5991T>C)
c.868-5991T>C (n.868-5991T>C)
c.862-5991T>C (n.862-5991T>C)
c.756T>C (p.Ser252=)
c.61-5991T>C (n.61-5991T>C)
c.442-5991T>C (n.442-5991T>C)
2g.233761043T>GCA431960876UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5991T>G (n.856-5991T>G)
c.868-5991T>G (n.868-5991T>G)
c.862-5991T>G (n.862-5991T>G)
c.756T>G (p.Ser252=)
c.61-5991T>G (n.61-5991T>G)
c.442-5991T>G (n.442-5991T>G)
2g.233761044G>ACA351068218UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5990G>A (n.856-5990G>A)
c.868-5990G>A (n.868-5990G>A)
c.862-5990G>A (n.862-5990G>A)
c.757G>A (p.Val253Ile)
c.61-5990G>A (n.61-5990G>A)
c.442-5990G>A (n.442-5990G>A)
 gnomAD v4
2g.233761044G>CCA351068221UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5990G>C (n.856-5990G>C)
c.868-5990G>C (n.868-5990G>C)
c.862-5990G>C (n.862-5990G>C)
c.757G>C (p.Val253Leu)
c.61-5990G>C (n.61-5990G>C)
c.442-5990G>C (n.442-5990G>C)
 dbSNP gnomAD v4
2g.233761044G=CA1335889893UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5990G= (n.856-5990G=)
c.868-5990G= (n.868-5990G=)
c.862-5990G= (n.862-5990G=)
c.757G= (p.Val253=)
c.61-5990G= (n.61-5990G=)
c.442-5990G= (n.442-5990G=)
2g.233761044G>TCA351068224UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5990G>T (n.856-5990G>T)
c.868-5990G>T (n.868-5990G>T)
c.862-5990G>T (n.862-5990G>T)
c.757G>T (p.Val253Phe)
c.61-5990G>T (n.61-5990G>T)
c.442-5990G>T (n.442-5990G>T)
 ClinVar
2g.233761045T>ACA351068226UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5989T>A (n.856-5989T>A)
c.868-5989T>A (n.868-5989T>A)
c.862-5989T>A (n.862-5989T>A)
c.758T>A (p.Val253Asp)
c.61-5989T>A (n.61-5989T>A)
c.442-5989T>A (n.442-5989T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.233761045T>CCA351068229UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5989T>C (n.856-5989T>C)
c.868-5989T>C (n.868-5989T>C)
c.862-5989T>C (n.862-5989T>C)
c.758T>C (p.Val253Ala)
c.61-5989T>C (n.61-5989T>C)
c.442-5989T>C (n.442-5989T>C)
2g.233761045T>GCA351068231UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5989T>G (n.856-5989T>G)
c.868-5989T>G (n.868-5989T>G)
c.862-5989T>G (n.862-5989T>G)
c.758T>G (p.Val253Gly)
c.61-5989T>G (n.61-5989T>G)
c.442-5989T>G (n.442-5989T>G)
2g.233761045T=CA1335889895UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5989T= (n.856-5989T=)
c.868-5989T= (n.868-5989T=)
c.862-5989T= (n.862-5989T=)
c.758T= (p.Val253=)
c.61-5989T= (n.61-5989T=)
c.442-5989T= (n.442-5989T=)
2g.233761046C>ACA431960880UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5988C>A (n.856-5988C>A)
c.868-5988C>A (n.868-5988C>A)
c.862-5988C>A (n.862-5988C>A)
c.759C>A (p.Val253=)
c.61-5988C>A (n.61-5988C>A)
c.442-5988C>A (n.442-5988C>A)
2g.233761046C>GCA431960878UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5988C>G (n.856-5988C>G)
c.868-5988C>G (n.868-5988C>G)
c.862-5988C>G (n.862-5988C>G)
c.759C>G (p.Val253=)
c.61-5988C>G (n.61-5988C>G)
c.442-5988C>G (n.442-5988C>G)
2g.233761046C>TCA431960879UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5988C>T (n.856-5988C>T)
c.868-5988C>T (n.868-5988C>T)
c.862-5988C>T (n.862-5988C>T)
c.759C>T (p.Val253=)
c.61-5988C>T (n.61-5988C>T)
c.442-5988C>T (n.442-5988C>T)
2g.233761047T>ACA351068235UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5987T>A (n.856-5987T>A)
c.868-5987T>A (n.868-5987T>A)
c.862-5987T>A (n.862-5987T>A)
c.760T>A (p.Trp254Arg)
c.61-5987T>A (n.61-5987T>A)
c.442-5987T>A (n.442-5987T>A)
2g.233761047T>CCA351068238UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5987T>C (n.856-5987T>C)
c.868-5987T>C (n.868-5987T>C)
c.862-5987T>C (n.862-5987T>C)
c.760T>C (p.Trp254Arg)
c.61-5987T>C (n.61-5987T>C)
c.442-5987T>C (n.442-5987T>C)
2g.233761047T>GCA351068240UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5987T>G (n.856-5987T>G)
c.868-5987T>G (n.868-5987T>G)
c.862-5987T>G (n.862-5987T>G)
c.760T>G (p.Trp254Gly)
c.61-5987T>G (n.61-5987T>G)
c.442-5987T>G (n.442-5987T>G)
2g.233761048G>ACA351068248UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5986G>A (n.856-5986G>A)
c.868-5986G>A (n.868-5986G>A)
c.862-5986G>A (n.862-5986G>A)
c.761G>A (p.Trp254Ter)
c.61-5986G>A (n.61-5986G>A)
c.442-5986G>A (n.442-5986G>A)
2g.233761048G>CCA351068244UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5986G>C (n.856-5986G>C)
c.868-5986G>C (n.868-5986G>C)
c.862-5986G>C (n.862-5986G>C)
c.761G>C (p.Trp254Ser)
c.61-5986G>C (n.61-5986G>C)
c.442-5986G>C (n.442-5986G>C)
2g.233761048G>TCA351068246UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5986G>T (n.856-5986G>T)
c.868-5986G>T (n.868-5986G>T)
c.862-5986G>T (n.862-5986G>T)
c.761G>T (p.Trp254Leu)
c.61-5986G>T (n.61-5986G>T)
c.442-5986G>T (n.442-5986G>T)
2g.233761049G>ACA351068252UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5985G>A (n.856-5985G>A)
c.868-5985G>A (n.868-5985G>A)
c.862-5985G>A (n.862-5985G>A)
c.762G>A (p.Trp254Ter)
c.61-5985G>A (n.61-5985G>A)
c.442-5985G>A (n.442-5985G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.233761049G>CCA351068255UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5985G>C (n.856-5985G>C)
c.868-5985G>C (n.868-5985G>C)
c.862-5985G>C (n.862-5985G>C)
c.762G>C (p.Trp254Cys)
c.61-5985G>C (n.61-5985G>C)
c.442-5985G>C (n.442-5985G>C)
2g.233761049G=CA1335889898UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5985G= (n.856-5985G=)
c.868-5985G= (n.868-5985G=)
c.862-5985G= (n.862-5985G=)
c.762G= (p.Trp254=)
c.61-5985G= (n.61-5985G=)
c.442-5985G= (n.442-5985G=)
2g.233761049G>TCA351068256UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5985G>T (n.856-5985G>T)
c.868-5985G>T (n.868-5985G>T)
c.862-5985G>T (n.862-5985G>T)
c.762G>T (p.Trp254Cys)
c.61-5985G>T (n.61-5985G>T)
c.442-5985G>T (n.442-5985G>T)
2g.233761050C>ACA351068259UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5984C>A (n.856-5984C>A)
c.868-5984C>A (n.868-5984C>A)
c.862-5984C>A (n.862-5984C>A)
c.763C>A (p.Leu255Met)
c.61-5984C>A (n.61-5984C>A)
c.442-5984C>A (n.442-5984C>A)
2g.233761050C>GCA351068261UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5984C>G (n.856-5984C>G)
c.868-5984C>G (n.868-5984C>G)
c.862-5984C>G (n.862-5984C>G)
c.763C>G (p.Leu255Val)
c.61-5984C>G (n.61-5984C>G)
c.442-5984C>G (n.442-5984C>G)
2g.233761050C>TCA431960881UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5984C>T (n.856-5984C>T)
c.868-5984C>T (n.868-5984C>T)
c.862-5984C>T (n.862-5984C>T)
c.763C>T (p.Leu255=)
c.61-5984C>T (n.61-5984C>T)
c.442-5984C>T (n.442-5984C>T)
2g.233761051T>ACA351068264UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5983T>A (n.856-5983T>A)
c.868-5983T>A (n.868-5983T>A)
c.862-5983T>A (n.862-5983T>A)
c.764T>A (p.Leu255Gln)
c.61-5983T>A (n.61-5983T>A)
c.442-5983T>A (n.442-5983T>A)
 dbSNP
2g.233761051T>CCA351068266UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5983T>C (n.856-5983T>C)
c.868-5983T>C (n.868-5983T>C)
c.862-5983T>C (n.862-5983T>C)
c.764T>C (p.Leu255Pro)
c.61-5983T>C (n.61-5983T>C)
c.442-5983T>C (n.442-5983T>C)
2g.233761051T>GCA351068269UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5983T>G (n.856-5983T>G)
c.868-5983T>G (n.868-5983T>G)
c.862-5983T>G (n.862-5983T>G)
c.764T>G (p.Leu255Arg)
c.61-5983T>G (n.61-5983T>G)
c.442-5983T>G (n.442-5983T>G)
2g.233761051T=CA1335889900UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5983T= (n.856-5983T=)
c.868-5983T= (n.868-5983T=)
c.862-5983T= (n.862-5983T=)
c.764T= (p.Leu255=)
c.61-5983T= (n.61-5983T=)
c.442-5983T= (n.442-5983T=)
2g.233761052G>ACA431960883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5982G>A (n.856-5982G>A)
c.868-5982G>A (n.868-5982G>A)
c.862-5982G>A (n.862-5982G>A)
c.765G>A (p.Leu255=)
c.61-5982G>A (n.61-5982G>A)
c.442-5982G>A (n.442-5982G>A)
2g.233761052G>CCA431960884UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5982G>C (n.856-5982G>C)
c.868-5982G>C (n.868-5982G>C)
c.862-5982G>C (n.862-5982G>C)
c.765G>C (p.Leu255=)
c.61-5982G>C (n.61-5982G>C)
c.442-5982G>C (n.442-5982G>C)
 dbSNP
2g.233761052G=CA1335889903UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5982G= (n.856-5982G=)
c.868-5982G= (n.868-5982G=)
c.862-5982G= (n.862-5982G=)
c.765G= (p.Leu255=)
c.61-5982G= (n.61-5982G=)
c.442-5982G= (n.442-5982G=)
2g.233761052G>TCA431960882UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5982G>T (n.856-5982G>T)
c.868-5982G>T (n.868-5982G>T)
c.862-5982G>T (n.862-5982G>T)
c.765G>T (p.Leu255=)
c.61-5982G>T (n.61-5982G>T)
c.442-5982G>T (n.442-5982G>T)
2g.233761053T>ACA351068272UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5981T>A (n.856-5981T>A)
c.868-5981T>A (n.868-5981T>A)
c.862-5981T>A (n.862-5981T>A)
c.766T>A (p.Phe256Ile)
c.61-5981T>A (n.61-5981T>A)
c.442-5981T>A (n.442-5981T>A)
2g.233761053T>CCA351068273UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5981T>C (n.856-5981T>C)
c.868-5981T>C (n.868-5981T>C)
c.862-5981T>C (n.862-5981T>C)
c.766T>C (p.Phe256Leu)
c.61-5981T>C (n.61-5981T>C)
c.442-5981T>C (n.442-5981T>C)
 COSMIC COSMIC
2g.233761053T>GCA351068276UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5981T>G (n.856-5981T>G)
c.868-5981T>G (n.868-5981T>G)
c.862-5981T>G (n.862-5981T>G)
c.766T>G (p.Phe256Val)
c.61-5981T>G (n.61-5981T>G)
c.442-5981T>G (n.442-5981T>G)
2g.233761054T>ACA351068284UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5980T>A (n.856-5980T>A)
c.868-5980T>A (n.868-5980T>A)
c.862-5980T>A (n.862-5980T>A)
c.767T>A (p.Phe256Tyr)
c.61-5980T>A (n.61-5980T>A)
c.442-5980T>A (n.442-5980T>A)
2g.233761054T>CCA351068281UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5980T>C (n.856-5980T>C)
c.868-5980T>C (n.868-5980T>C)
c.862-5980T>C (n.862-5980T>C)
c.767T>C (p.Phe256Ser)
c.61-5980T>C (n.61-5980T>C)
c.442-5980T>C (n.442-5980T>C)
2g.233761054T>GCA351068280UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5980T>G (n.856-5980T>G)
c.868-5980T>G (n.868-5980T>G)
c.862-5980T>G (n.862-5980T>G)
c.767T>G (p.Phe256Cys)
c.61-5980T>G (n.61-5980T>G)
c.442-5980T>G (n.442-5980T>G)
2g.233761055T>ACA351068287UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5979T>A (n.856-5979T>A)
c.868-5979T>A (n.868-5979T>A)
c.862-5979T>A (n.862-5979T>A)
c.768T>A (p.Phe256Leu)
c.61-5979T>A (n.61-5979T>A)
c.442-5979T>A (n.442-5979T>A)
 dbSNP
2g.233761055T>CCA431960885UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5979T>C (n.856-5979T>C)
c.868-5979T>C (n.868-5979T>C)
c.862-5979T>C (n.862-5979T>C)
c.768T>C (p.Phe256=)
c.61-5979T>C (n.61-5979T>C)
c.442-5979T>C (n.442-5979T>C)
2g.233761055T>GCA351068289UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5979T>G (n.856-5979T>G)
c.868-5979T>G (n.868-5979T>G)
c.862-5979T>G (n.862-5979T>G)
c.768T>G (p.Phe256Leu)
c.61-5979T>G (n.61-5979T>G)
c.442-5979T>G (n.442-5979T>G)
 dbSNP gnomAD v4
2g.233761055T=CA1335889905UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5979T= (n.856-5979T=)
c.868-5979T= (n.868-5979T=)
c.862-5979T= (n.862-5979T=)
c.768T= (p.Phe256=)
c.61-5979T= (n.61-5979T=)
c.442-5979T= (n.442-5979T=)
2g.233761056A>CCA431960886UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5978A>C (n.856-5978A>C)
c.868-5978A>C (n.868-5978A>C)
c.862-5978A>C (n.862-5978A>C)
c.769A>C (p.Arg257=)
c.61-5978A>C (n.61-5978A>C)
c.442-5978A>C (n.442-5978A>C)
2g.233761056A>GCA351068292UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5978A>G (n.856-5978A>G)
c.868-5978A>G (n.868-5978A>G)
c.862-5978A>G (n.862-5978A>G)
c.769A>G (p.Arg257Gly)
c.61-5978A>G (n.61-5978A>G)
c.442-5978A>G (n.442-5978A>G)
2g.233761056A>TCA351068295UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5978A>T (n.856-5978A>T)
c.868-5978A>T (n.868-5978A>T)
c.862-5978A>T (n.862-5978A>T)
c.769A>T (p.Arg257Ter)
c.61-5978A>T (n.61-5978A>T)
c.442-5978A>T (n.442-5978A>T)
2g.233761057G>ACA351068297UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5977G>A (n.856-5977G>A)
c.868-5977G>A (n.868-5977G>A)
c.862-5977G>A (n.862-5977G>A)
c.770G>A (p.Arg257Lys)
c.61-5977G>A (n.61-5977G>A)
c.442-5977G>A (n.442-5977G>A)
 gnomAD v4
2g.233761057G>CCA351068300UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5977G>C (n.856-5977G>C)
c.868-5977G>C (n.868-5977G>C)
c.862-5977G>C (n.862-5977G>C)
c.770G>C (p.Arg257Thr)
c.61-5977G>C (n.61-5977G>C)
c.442-5977G>C (n.442-5977G>C)
2g.233761057G>TCA351068303UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5977G>T (n.856-5977G>T)
c.868-5977G>T (n.868-5977G>T)
c.862-5977G>T (n.862-5977G>T)
c.770G>T (p.Arg257Ile)
c.61-5977G>T (n.61-5977G>T)
c.442-5977G>T (n.442-5977G>T)
2g.233761058A>CCA351068305UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5976A>C (n.856-5976A>C)
c.868-5976A>C (n.868-5976A>C)
c.862-5976A>C (n.862-5976A>C)
c.771A>C (p.Arg257Ser)
c.61-5976A>C (n.61-5976A>C)
c.442-5976A>C (n.442-5976A>C)
2g.233761058A>GCA431960887UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5976A>G (n.856-5976A>G)
c.868-5976A>G (n.868-5976A>G)
c.862-5976A>G (n.862-5976A>G)
c.771A>G (p.Arg257=)
c.61-5976A>G (n.61-5976A>G)
c.442-5976A>G (n.442-5976A>G)
2g.233761058A>TCA351068308UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5976A>T (n.856-5976A>T)
c.868-5976A>T (n.868-5976A>T)
c.862-5976A>T (n.862-5976A>T)
c.771A>T (p.Arg257Ser)
c.61-5976A>T (n.61-5976A>T)
c.442-5976A>T (n.442-5976A>T)
2g.233761059A>CCA351068311UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5975A>C (n.856-5975A>C)
c.868-5975A>C (n.868-5975A>C)
c.862-5975A>C (n.862-5975A>C)
c.772A>C (p.Ser258Arg)
c.61-5975A>C (n.61-5975A>C)
c.442-5975A>C (n.442-5975A>C)
2g.233761059A>GCA351068313UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5975A>G (n.856-5975A>G)
c.868-5975A>G (n.868-5975A>G)
c.862-5975A>G (n.862-5975A>G)
c.772A>G (p.Ser258Gly)
c.61-5975A>G (n.61-5975A>G)
c.442-5975A>G (n.442-5975A>G)
2g.233761059A>TCA351068314UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5975A>T (n.856-5975A>T)
c.868-5975A>T (n.868-5975A>T)
c.862-5975A>T (n.862-5975A>T)
c.772A>T (p.Ser258Cys)
c.61-5975A>T (n.61-5975A>T)
c.442-5975A>T (n.442-5975A>T)
2g.233761060G>ACA351068320UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5974G>A (n.856-5974G>A)
c.868-5974G>A (n.868-5974G>A)
c.862-5974G>A (n.862-5974G>A)
c.773G>A (p.Ser258Asn)
c.61-5974G>A (n.61-5974G>A)
c.442-5974G>A (n.442-5974G>A)
 gnomAD v4
2g.233761060G>CCA351068323UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5974G>C (n.856-5974G>C)
c.868-5974G>C (n.868-5974G>C)
c.862-5974G>C (n.862-5974G>C)
c.773G>C (p.Ser258Thr)
c.61-5974G>C (n.61-5974G>C)
c.442-5974G>C (n.442-5974G>C)
 COSMIC
2g.233761060G>TCA351068318UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5974G>T (n.856-5974G>T)
c.868-5974G>T (n.868-5974G>T)
c.862-5974G>T (n.862-5974G>T)
c.773G>T (p.Ser258Ile)
c.61-5974G>T (n.61-5974G>T)
c.442-5974G>T (n.442-5974G>T)
2g.233761061T>ACA351068325UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5973T>A (n.856-5973T>A)
c.868-5973T>A (n.868-5973T>A)
c.862-5973T>A (n.862-5973T>A)
c.774T>A (p.Ser258Arg)
c.61-5973T>A (n.61-5973T>A)
c.442-5973T>A (n.442-5973T>A)
2g.233761061T>CCA431960888UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5973T>C (n.856-5973T>C)
c.868-5973T>C (n.868-5973T>C)
c.862-5973T>C (n.862-5973T>C)
c.774T>C (p.Ser258=)
c.61-5973T>C (n.61-5973T>C)
c.442-5973T>C (n.442-5973T>C)
2g.233761061T>GCA351068328UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5973T>G (n.856-5973T>G)
c.868-5973T>G (n.868-5973T>G)
c.862-5973T>G (n.862-5973T>G)
c.774T>G (p.Ser258Arg)
c.61-5973T>G (n.61-5973T>G)
c.442-5973T>G (n.442-5973T>G)

Number of alleles fetched