Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233761075A>CCA351068405UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5959A>C (n.856-5959A>C)
c.868-5959A>C (n.868-5959A>C)
c.862-5959A>C (n.862-5959A>C)
c.788A>C (p.Asp263Ala)
c.61-5959A>C (n.61-5959A>C)
c.442-5959A>C (n.442-5959A>C)
2g.233761075A>GCA351068406UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5959A>G (n.856-5959A>G)
c.868-5959A>G (n.868-5959A>G)
c.862-5959A>G (n.862-5959A>G)
c.788A>G (p.Asp263Gly)
c.61-5959A>G (n.61-5959A>G)
c.442-5959A>G (n.442-5959A>G)
2g.233761075A>TCA351068408UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5959A>T (n.856-5959A>T)
c.868-5959A>T (n.868-5959A>T)
c.862-5959A>T (n.862-5959A>T)
c.788A>T (p.Asp263Val)
c.61-5959A>T (n.61-5959A>T)
c.442-5959A>T (n.442-5959A>T)
2g.233761076T>ACA351068411UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5958T>A (n.856-5958T>A)
c.868-5958T>A (n.868-5958T>A)
c.862-5958T>A (n.862-5958T>A)
c.789T>A (p.Asp263Glu)
c.61-5958T>A (n.61-5958T>A)
c.442-5958T>A (n.442-5958T>A)
 gnomAD v4
2g.233761076T>CCA431960894UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5958T>C (n.856-5958T>C)
c.868-5958T>C (n.868-5958T>C)
c.862-5958T>C (n.862-5958T>C)
c.789T>C (p.Asp263=)
c.61-5958T>C (n.61-5958T>C)
c.442-5958T>C (n.442-5958T>C)
2g.233761076T>GCA351068414UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5958T>G (n.856-5958T>G)
c.868-5958T>G (n.868-5958T>G)
c.862-5958T>G (n.862-5958T>G)
c.789T>G (p.Asp263Glu)
c.61-5958T>G (n.61-5958T>G)
c.442-5958T>G (n.442-5958T>G)
2g.233761077T>ACA351068415UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5957T>A (n.856-5957T>A)
c.868-5957T>A (n.868-5957T>A)
c.862-5957T>A (n.862-5957T>A)
c.790T>A (p.Tyr264Asn)
c.61-5957T>A (n.61-5957T>A)
c.442-5957T>A (n.442-5957T>A)
 gnomAD v4
2g.233761077T>CCA351068417UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5957T>C (n.856-5957T>C)
c.868-5957T>C (n.868-5957T>C)
c.862-5957T>C (n.862-5957T>C)
c.790T>C (p.Tyr264His)
c.61-5957T>C (n.61-5957T>C)
c.442-5957T>C (n.442-5957T>C)
 COSMIC COSMIC
2g.233761077T>GCA351068423UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5957T>G (n.856-5957T>G)
c.868-5957T>G (n.868-5957T>G)
c.862-5957T>G (n.862-5957T>G)
c.790T>G (p.Tyr264Asp)
c.61-5957T>G (n.61-5957T>G)
c.442-5957T>G (n.442-5957T>G)
2g.233761078A>CCA351068427UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5956A>C (n.856-5956A>C)
c.868-5956A>C (n.868-5956A>C)
c.862-5956A>C (n.862-5956A>C)
c.791A>C (p.Tyr264Ser)
c.61-5956A>C (n.61-5956A>C)
c.442-5956A>C (n.442-5956A>C)
2g.233761078A>GCA351068429UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5956A>G (n.856-5956A>G)
c.868-5956A>G (n.868-5956A>G)
c.862-5956A>G (n.862-5956A>G)
c.791A>G (p.Tyr264Cys)
c.61-5956A>G (n.61-5956A>G)
c.442-5956A>G (n.442-5956A>G)
 gnomAD v4
2g.233761078A>TCA351068433UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5956A>T (n.856-5956A>T)
c.868-5956A>T (n.868-5956A>T)
c.862-5956A>T (n.862-5956A>T)
c.791A>T (p.Tyr264Phe)
c.61-5956A>T (n.61-5956A>T)
c.442-5956A>T (n.442-5956A>T)
2g.233761079C>ACA351068437UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5955C>A (n.856-5955C>A)
c.868-5955C>A (n.868-5955C>A)
c.862-5955C>A (n.862-5955C>A)
c.792C>A (p.Tyr264Ter)
c.61-5955C>A (n.61-5955C>A)
c.442-5955C>A (n.442-5955C>A)
2g.233761079C>GCA351068436UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5955C>G (n.856-5955C>G)
c.868-5955C>G (n.868-5955C>G)
c.862-5955C>G (n.862-5955C>G)
c.792C>G (p.Tyr264Ter)
c.61-5955C>G (n.61-5955C>G)
c.442-5955C>G (n.442-5955C>G)
2g.233761079C>TCA431960895UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5955C>T (n.856-5955C>T)
c.868-5955C>T (n.868-5955C>T)
c.862-5955C>T (n.862-5955C>T)
c.792C>T (p.Tyr264=)
c.61-5955C>T (n.61-5955C>T)
c.442-5955C>T (n.442-5955C>T)
 gnomAD v4
2g.233761080C>ACA351068444UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5954C>A (n.856-5954C>A)
c.868-5954C>A (n.868-5954C>A)
c.862-5954C>A (n.862-5954C>A)
c.793C>A (p.Pro265Thr)
c.61-5954C>A (n.61-5954C>A)
c.442-5954C>A (n.442-5954C>A)
2g.233761080C=CA1335889923UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5954C= (n.856-5954C=)
c.868-5954C= (n.868-5954C=)
c.862-5954C= (n.862-5954C=)
c.793C= (p.Pro265=)
c.61-5954C= (n.61-5954C=)
c.442-5954C= (n.442-5954C=)
2g.233761080C>GCA351068445UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5954C>G (n.856-5954C>G)
c.868-5954C>G (n.868-5954C>G)
c.862-5954C>G (n.862-5954C>G)
c.793C>G (p.Pro265Ala)
c.61-5954C>G (n.61-5954C>G)
c.442-5954C>G (n.442-5954C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.233761080C>TCA2179886UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5954C>T (n.856-5954C>T)
c.868-5954C>T (n.868-5954C>T)
c.862-5954C>T (n.862-5954C>T)
c.793C>T (p.Pro265Ser)
c.61-5954C>T (n.61-5954C>T)
c.442-5954C>T (n.442-5954C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761081C>ACA351068450UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5953C>A (n.856-5953C>A)
c.868-5953C>A (n.868-5953C>A)
c.862-5953C>A (n.862-5953C>A)
c.794C>A (p.Pro265His)
c.61-5953C>A (n.61-5953C>A)
c.442-5953C>A (n.442-5953C>A)
 gnomAD v4 COSMIC COSMIC
2g.233761081C>GCA351068452UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5953C>G (n.856-5953C>G)
c.868-5953C>G (n.868-5953C>G)
c.862-5953C>G (n.862-5953C>G)
c.794C>G (p.Pro265Arg)
c.61-5953C>G (n.61-5953C>G)
c.442-5953C>G (n.442-5953C>G)
2g.233761081C>TCA351068455UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5953C>T (n.856-5953C>T)
c.868-5953C>T (n.868-5953C>T)
c.862-5953C>T (n.862-5953C>T)
c.794C>T (p.Pro265Leu)
c.61-5953C>T (n.61-5953C>T)
c.442-5953C>T (n.442-5953C>T)
 gnomAD v4
2g.233761082T>ACA431960898UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5952T>A (n.856-5952T>A)
c.868-5952T>A (n.868-5952T>A)
c.862-5952T>A (n.862-5952T>A)
c.795T>A (p.Pro265=)
c.61-5952T>A (n.61-5952T>A)
c.442-5952T>A (n.442-5952T>A)
2g.233761082T>CCA431960897UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5952T>C (n.856-5952T>C)
c.868-5952T>C (n.868-5952T>C)
c.862-5952T>C (n.862-5952T>C)
c.795T>C (p.Pro265=)
c.61-5952T>C (n.61-5952T>C)
c.442-5952T>C (n.442-5952T>C)
2g.233761082T>GCA431960896UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5952T>G (n.856-5952T>G)
c.868-5952T>G (n.868-5952T>G)
c.862-5952T>G (n.862-5952T>G)
c.795T>G (p.Pro265=)
c.61-5952T>G (n.61-5952T>G)
c.442-5952T>G (n.442-5952T>G)
2g.233761083A>CCA431960899UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5951A>C (n.856-5951A>C)
c.868-5951A>C (n.868-5951A>C)
c.862-5951A>C (n.862-5951A>C)
c.796A>C (p.Arg266=)
c.61-5951A>C (n.61-5951A>C)
c.442-5951A>C (n.442-5951A>C)
2g.233761083A>GCA351068457UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5951A>G (n.856-5951A>G)
c.868-5951A>G (n.868-5951A>G)
c.862-5951A>G (n.862-5951A>G)
c.796A>G (p.Arg266Gly)
c.61-5951A>G (n.61-5951A>G)
c.442-5951A>G (n.442-5951A>G)
2g.233761083A>TCA351068459UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5951A>T (n.856-5951A>T)
c.868-5951A>T (n.868-5951A>T)
c.862-5951A>T (n.862-5951A>T)
c.796A>T (p.Arg266Trp)
c.61-5951A>T (n.61-5951A>T)
c.442-5951A>T (n.442-5951A>T)
2g.233761084G>ACA351068461UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5950G>A (n.856-5950G>A)
c.868-5950G>A (n.868-5950G>A)
c.862-5950G>A (n.862-5950G>A)
c.797G>A (p.Arg266Lys)
c.61-5950G>A (n.61-5950G>A)
c.442-5950G>A (n.442-5950G>A)
 gnomAD v4
2g.233761084G>CCA351068464UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5950G>C (n.856-5950G>C)
c.868-5950G>C (n.868-5950G>C)
c.862-5950G>C (n.862-5950G>C)
c.797G>C (p.Arg266Thr)
c.61-5950G>C (n.61-5950G>C)
c.442-5950G>C (n.442-5950G>C)
2g.233761084G>TCA351068466UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5950G>T (n.856-5950G>T)
c.868-5950G>T (n.868-5950G>T)
c.862-5950G>T (n.862-5950G>T)
c.797G>T (p.Arg266Met)
c.61-5950G>T (n.61-5950G>T)
c.442-5950G>T (n.442-5950G>T)
2g.233761085G>ACA431960900UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5949G>A (n.856-5949G>A)
c.868-5949G>A (n.868-5949G>A)
c.862-5949G>A (n.862-5949G>A)
c.798G>A (p.Arg266=)
c.61-5949G>A (n.61-5949G>A)
c.442-5949G>A (n.442-5949G>A)
2g.233761085G>CCA351068469UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5949G>C (n.856-5949G>C)
c.868-5949G>C (n.868-5949G>C)
c.862-5949G>C (n.862-5949G>C)
c.798G>C (p.Arg266Ser)
c.61-5949G>C (n.61-5949G>C)
c.442-5949G>C (n.442-5949G>C)
2g.233761085G>TCA351068472UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5949G>T (n.856-5949G>T)
c.868-5949G>T (n.868-5949G>T)
c.862-5949G>T (n.862-5949G>T)
c.798G>T (p.Arg266Ser)
c.61-5949G>T (n.61-5949G>T)
c.442-5949G>T (n.442-5949G>T)
2g.233761086C>ACA351068484UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5948C>A (n.856-5948C>A)
c.868-5948C>A (n.868-5948C>A)
c.862-5948C>A (n.862-5948C>A)
c.799C>A (p.Pro267Thr)
c.61-5948C>A (n.61-5948C>A)
c.442-5948C>A (n.442-5948C>A)
2g.233761086C>GCA351068476UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5948C>G (n.856-5948C>G)
c.868-5948C>G (n.868-5948C>G)
c.862-5948C>G (n.862-5948C>G)
c.799C>G (p.Pro267Ala)
c.61-5948C>G (n.61-5948C>G)
c.442-5948C>G (n.442-5948C>G)
2g.233761086C>TCA351068478UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5948C>T (n.856-5948C>T)
c.868-5948C>T (n.868-5948C>T)
c.862-5948C>T (n.862-5948C>T)
c.799C>T (p.Pro267Ser)
c.61-5948C>T (n.61-5948C>T)
c.442-5948C>T (n.442-5948C>T)
2g.233761088delCA2586965612UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5946del (n.856-5946del)
c.868-5946del (n.868-5946del)
c.862-5946del (n.862-5946del)
c.801del (p.Ile268SerfsTer?)
c.61-5946del (n.61-5946del)
c.442-5946del (n.442-5946del)
2g.233761087C>ACA351068487UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5947C>A (n.856-5947C>A)
c.868-5947C>A (n.868-5947C>A)
c.862-5947C>A (n.862-5947C>A)
c.800C>A (p.Pro267His)
c.61-5947C>A (n.61-5947C>A)
c.442-5947C>A (n.442-5947C>A)
2g.233761087C=CA1335889925UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5947C= (n.856-5947C=)
c.868-5947C= (n.868-5947C=)
c.862-5947C= (n.862-5947C=)
c.800C= (p.Pro267=)
c.61-5947C= (n.61-5947C=)
c.442-5947C= (n.442-5947C=)
2g.233761087C>GCA2179887UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5947C>G (n.856-5947C>G)
c.868-5947C>G (n.868-5947C>G)
c.862-5947C>G (n.862-5947C>G)
c.800C>G (p.Pro267Arg)
c.61-5947C>G (n.61-5947C>G)
c.442-5947C>G (n.442-5947C>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.233761087C>TCA351068490UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5947C>T (n.856-5947C>T)
c.868-5947C>T (n.868-5947C>T)
c.862-5947C>T (n.862-5947C>T)
c.800C>T (p.Pro267Leu)
c.61-5947C>T (n.61-5947C>T)
c.442-5947C>T (n.442-5947C>T)
 gnomAD v4
2g.233761088C>ACA431960901UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5946C>A (n.856-5946C>A)
c.868-5946C>A (n.868-5946C>A)
c.862-5946C>A (n.862-5946C>A)
c.801C>A (p.Pro267=)
c.61-5946C>A (n.61-5946C>A)
c.442-5946C>A (n.442-5946C>A)
2g.233761088C=CA1335889929UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5946C= (n.856-5946C=)
c.868-5946C= (n.868-5946C=)
c.862-5946C= (n.862-5946C=)
c.801C= (p.Pro267=)
c.61-5946C= (n.61-5946C=)
c.442-5946C= (n.442-5946C=)
2g.233761088C>GCA431960902UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5946C>G (n.856-5946C>G)
c.868-5946C>G (n.868-5946C>G)
c.862-5946C>G (n.862-5946C>G)
c.801C>G (p.Pro267=)
c.61-5946C>G (n.61-5946C>G)
c.442-5946C>G (n.442-5946C>G)
2g.233761088C>TCA2179888UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5946C>T (n.856-5946C>T)
c.868-5946C>T (n.868-5946C>T)
c.862-5946C>T (n.862-5946C>T)
c.801C>T (p.Pro267=)
c.61-5946C>T (n.61-5946C>T)
c.442-5946C>T (n.442-5946C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761089A=CA1335889933UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5945A= (n.856-5945A=)
c.868-5945A= (n.868-5945A=)
c.862-5945A= (n.862-5945A=)
c.802A= (p.Ile268=)
c.61-5945A= (n.61-5945A=)
c.442-5945A= (n.442-5945A=)
2g.233761089A>CCA351068493UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5945A>C (n.856-5945A>C)
c.868-5945A>C (n.868-5945A>C)
c.862-5945A>C (n.862-5945A>C)
c.802A>C (p.Ile268Leu)
c.61-5945A>C (n.61-5945A>C)
c.442-5945A>C (n.442-5945A>C)
2g.233761089A>GCA351068495UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5945A>G (n.856-5945A>G)
c.868-5945A>G (n.868-5945A>G)
c.862-5945A>G (n.862-5945A>G)
c.802A>G (p.Ile268Val)
c.61-5945A>G (n.61-5945A>G)
c.442-5945A>G (n.442-5945A>G)
 dbSNP
2g.233761089A>TCA351068497UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5945A>T (n.856-5945A>T)
c.868-5945A>T (n.868-5945A>T)
c.862-5945A>T (n.862-5945A>T)
c.802A>T (p.Ile268Phe)
c.61-5945A>T (n.61-5945A>T)
c.442-5945A>T (n.442-5945A>T)
2g.233761090T>ACA351068500UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5944T>A (n.856-5944T>A)
c.868-5944T>A (n.868-5944T>A)
c.862-5944T>A (n.862-5944T>A)
c.803T>A (p.Ile268Asn)
c.61-5944T>A (n.61-5944T>A)
c.442-5944T>A (n.442-5944T>A)
 gnomAD v4
2g.233761090T>CCA351068502UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5944T>C (n.856-5944T>C)
c.868-5944T>C (n.868-5944T>C)
c.862-5944T>C (n.862-5944T>C)
c.803T>C (p.Ile268Thr)
c.61-5944T>C (n.61-5944T>C)
c.442-5944T>C (n.442-5944T>C)
2g.233761090T>GCA351068505UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5944T>G (n.856-5944T>G)
c.868-5944T>G (n.868-5944T>G)
c.862-5944T>G (n.862-5944T>G)
c.803T>G (p.Ile268Ser)
c.61-5944T>G (n.61-5944T>G)
c.442-5944T>G (n.442-5944T>G)
2g.233761091C>ACA431960903UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5943C>A (n.856-5943C>A)
c.868-5943C>A (n.868-5943C>A)
c.862-5943C>A (n.862-5943C>A)
c.804C>A (p.Ile268=)
c.61-5943C>A (n.61-5943C>A)
c.442-5943C>A (n.442-5943C>A)
2g.233761091C=CA1335889935UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5943C= (n.856-5943C=)
c.868-5943C= (n.868-5943C=)
c.862-5943C= (n.862-5943C=)
c.804C= (p.Ile268=)
c.61-5943C= (n.61-5943C=)
c.442-5943C= (n.442-5943C=)
2g.233761091C>GCA351068508UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5943C>G (n.856-5943C>G)
c.868-5943C>G (n.868-5943C>G)
c.862-5943C>G (n.862-5943C>G)
c.804C>G (p.Ile268Met)
c.61-5943C>G (n.61-5943C>G)
c.442-5943C>G (n.442-5943C>G)
2g.233761091C>TCA2179889UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5943C>T (n.856-5943C>T)
c.868-5943C>T (n.868-5943C>T)
c.862-5943C>T (n.862-5943C>T)
c.804C>T (p.Ile268=)
c.61-5943C>T (n.61-5943C>T)
c.442-5943C>T (n.442-5943C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761092A>CCA351068517UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5942A>C (n.856-5942A>C)
c.868-5942A>C (n.868-5942A>C)
c.862-5942A>C (n.862-5942A>C)
c.805A>C (p.Met269Leu)
c.61-5942A>C (n.61-5942A>C)
c.442-5942A>C (n.442-5942A>C)
2g.233761092A>GCA351068515UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5942A>G (n.856-5942A>G)
c.868-5942A>G (n.868-5942A>G)
c.862-5942A>G (n.862-5942A>G)
c.805A>G (p.Met269Val)
c.61-5942A>G (n.61-5942A>G)
c.442-5942A>G (n.442-5942A>G)
2g.233761092A>TCA351068512UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5942A>T (n.856-5942A>T)
c.868-5942A>T (n.868-5942A>T)
c.862-5942A>T (n.862-5942A>T)
c.805A>T (p.Met269Leu)
c.61-5942A>T (n.61-5942A>T)
c.442-5942A>T (n.442-5942A>T)
2g.233761093T>ACA351068519UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5941T>A (n.856-5941T>A)
c.868-5941T>A (n.868-5941T>A)
c.862-5941T>A (n.862-5941T>A)
c.806T>A (p.Met269Lys)
c.61-5941T>A (n.61-5941T>A)
c.442-5941T>A (n.442-5941T>A)
2g.233761093T>CCA351068521UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5941T>C (n.856-5941T>C)
c.868-5941T>C (n.868-5941T>C)
c.862-5941T>C (n.862-5941T>C)
c.806T>C (p.Met269Thr)
c.61-5941T>C (n.61-5941T>C)
c.442-5941T>C (n.442-5941T>C)
2g.233761093T>GCA351068520UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5941T>G (n.856-5941T>G)
c.868-5941T>G (n.868-5941T>G)
c.862-5941T>G (n.862-5941T>G)
c.806T>G (p.Met269Arg)
c.61-5941T>G (n.61-5941T>G)
c.442-5941T>G (n.442-5941T>G)
 gnomAD v4
2g.233761094G>ACA351068522UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5940G>A (n.856-5940G>A)
c.868-5940G>A (n.868-5940G>A)
c.862-5940G>A (n.862-5940G>A)
c.807G>A (p.Met269Ile)
c.61-5940G>A (n.61-5940G>A)
c.442-5940G>A (n.442-5940G>A)
2g.233761094G>CCA351068524UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5940G>C (n.856-5940G>C)
c.868-5940G>C (n.868-5940G>C)
c.862-5940G>C (n.862-5940G>C)
c.807G>C (p.Met269Ile)
c.61-5940G>C (n.61-5940G>C)
c.442-5940G>C (n.442-5940G>C)
2g.233761094G>TCA351068525UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5940G>T (n.856-5940G>T)
c.868-5940G>T (n.868-5940G>T)
c.862-5940G>T (n.862-5940G>T)
c.807G>T (p.Met269Ile)
c.61-5940G>T (n.61-5940G>T)
c.442-5940G>T (n.442-5940G>T)
2g.233761095C>ACA351068528UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5939C>A (n.856-5939C>A)
c.868-5939C>A (n.868-5939C>A)
c.862-5939C>A (n.862-5939C>A)
c.808C>A (p.Pro270Thr)
c.61-5939C>A (n.61-5939C>A)
c.442-5939C>A (n.442-5939C>A)
2g.233761095C=CA1335889940UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5939C= (n.856-5939C=)
c.868-5939C= (n.868-5939C=)
c.862-5939C= (n.862-5939C=)
c.808C= (p.Pro270=)
c.61-5939C= (n.61-5939C=)
c.442-5939C= (n.442-5939C=)
2g.233761095C>GCA351068534UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5939C>G (n.856-5939C>G)
c.868-5939C>G (n.868-5939C>G)
c.862-5939C>G (n.862-5939C>G)
c.808C>G (p.Pro270Ala)
c.61-5939C>G (n.61-5939C>G)
c.442-5939C>G (n.442-5939C>G)
2g.233761095C>TCA2179890UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5939C>T (n.856-5939C>T)
c.868-5939C>T (n.868-5939C>T)
c.862-5939C>T (n.862-5939C>T)
c.808C>T (p.Pro270Ser)
c.61-5939C>T (n.61-5939C>T)
c.442-5939C>T (n.442-5939C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761096C>ACA351068539UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5938C>A (n.856-5938C>A)
c.868-5938C>A (n.868-5938C>A)
c.862-5938C>A (n.862-5938C>A)
c.809C>A (p.Pro270His)
c.61-5938C>A (n.61-5938C>A)
c.442-5938C>A (n.442-5938C>A)
2g.233761096C>GCA351068542UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5938C>G (n.856-5938C>G)
c.868-5938C>G (n.868-5938C>G)
c.862-5938C>G (n.862-5938C>G)
c.809C>G (p.Pro270Arg)
c.61-5938C>G (n.61-5938C>G)
c.442-5938C>G (n.442-5938C>G)
2g.233761096C>TCA351068543UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5938C>T (n.856-5938C>T)
c.868-5938C>T (n.868-5938C>T)
c.862-5938C>T (n.862-5938C>T)
c.809C>T (p.Pro270Leu)
c.61-5938C>T (n.61-5938C>T)
c.442-5938C>T (n.442-5938C>T)
2g.233761097C>ACA431960905UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5937C>A (n.856-5937C>A)
c.868-5937C>A (n.868-5937C>A)
c.862-5937C>A (n.862-5937C>A)
c.810C>A (p.Pro270=)
c.61-5937C>A (n.61-5937C>A)
c.442-5937C>A (n.442-5937C>A)
2g.233761097C>GCA431960904UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5937C>G (n.856-5937C>G)
c.868-5937C>G (n.868-5937C>G)
c.862-5937C>G (n.862-5937C>G)
c.810C>G (p.Pro270=)
c.61-5937C>G (n.61-5937C>G)
c.442-5937C>G (n.442-5937C>G)
2g.233761097C>TCA431960906UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5937C>T (n.856-5937C>T)
c.868-5937C>T (n.868-5937C>T)
c.862-5937C>T (n.862-5937C>T)
c.810C>T (p.Pro270=)
c.61-5937C>T (n.61-5937C>T)
c.442-5937C>T (n.442-5937C>T)
2g.233761098A>CCA351068544UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5936A>C (n.856-5936A>C)
c.868-5936A>C (n.868-5936A>C)
c.862-5936A>C (n.862-5936A>C)
c.811A>C (p.Asn271His)
c.61-5936A>C (n.61-5936A>C)
c.442-5936A>C (n.442-5936A>C)
2g.233761098A>GCA351068547UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5936A>G (n.856-5936A>G)
c.868-5936A>G (n.868-5936A>G)
c.862-5936A>G (n.862-5936A>G)
c.811A>G (p.Asn271Asp)
c.61-5936A>G (n.61-5936A>G)
c.442-5936A>G (n.442-5936A>G)
2g.233761098A>TCA351068548UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5936A>T (n.856-5936A>T)
c.868-5936A>T (n.868-5936A>T)
c.862-5936A>T (n.862-5936A>T)
c.811A>T (p.Asn271Tyr)
c.61-5936A>T (n.61-5936A>T)
c.442-5936A>T (n.442-5936A>T)
2g.233761099A>CCA351068551UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5935A>C (n.856-5935A>C)
c.868-5935A>C (n.868-5935A>C)
c.862-5935A>C (n.862-5935A>C)
c.812A>C (p.Asn271Thr)
c.61-5935A>C (n.61-5935A>C)
c.442-5935A>C (n.442-5935A>C)
2g.233761099A>GCA351068549UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5935A>G (n.856-5935A>G)
c.868-5935A>G (n.868-5935A>G)
c.862-5935A>G (n.862-5935A>G)
c.812A>G (p.Asn271Ser)
c.61-5935A>G (n.61-5935A>G)
c.442-5935A>G (n.442-5935A>G)
 gnomAD v4
2g.233761099A>TCA351068550UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5935A>T (n.856-5935A>T)
c.868-5935A>T (n.868-5935A>T)
c.862-5935A>T (n.862-5935A>T)
c.812A>T (p.Asn271Ile)
c.61-5935A>T (n.61-5935A>T)
c.442-5935A>T (n.442-5935A>T)
2g.233761100T>ACA351068553UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5934T>A (n.856-5934T>A)
c.868-5934T>A (n.868-5934T>A)
c.862-5934T>A (n.862-5934T>A)
c.813T>A (p.Asn271Lys)
c.61-5934T>A (n.61-5934T>A)
c.442-5934T>A (n.442-5934T>A)
2g.233761100T>CCA431960907UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5934T>C (n.856-5934T>C)
c.868-5934T>C (n.868-5934T>C)
c.862-5934T>C (n.862-5934T>C)
c.813T>C (p.Asn271=)
c.61-5934T>C (n.61-5934T>C)
c.442-5934T>C (n.442-5934T>C)
2g.233761100T>GCA351068554UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5934T>G (n.856-5934T>G)
c.868-5934T>G (n.868-5934T>G)
c.862-5934T>G (n.862-5934T>G)
c.813T>G (p.Asn271Lys)
c.61-5934T>G (n.61-5934T>G)
c.442-5934T>G (n.442-5934T>G)
2g.233761101A>CCA351068558UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5933A>C (n.856-5933A>C)
c.868-5933A>C (n.868-5933A>C)
c.862-5933A>C (n.862-5933A>C)
c.814A>C (p.Met272Leu)
c.61-5933A>C (n.61-5933A>C)
c.442-5933A>C (n.442-5933A>C)
2g.233761101A>GCA351068560UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5933A>G (n.856-5933A>G)
c.868-5933A>G (n.868-5933A>G)
c.862-5933A>G (n.862-5933A>G)
c.814A>G (p.Met272Val)
c.61-5933A>G (n.61-5933A>G)
c.442-5933A>G (n.442-5933A>G)
2g.233761101A>TCA351068561UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5933A>T (n.856-5933A>T)
c.868-5933A>T (n.868-5933A>T)
c.862-5933A>T (n.862-5933A>T)
c.814A>T (p.Met272Leu)
c.61-5933A>T (n.61-5933A>T)
c.442-5933A>T (n.442-5933A>T)
2g.233761102T>ACA351068562UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5932T>A (n.856-5932T>A)
c.868-5932T>A (n.868-5932T>A)
c.862-5932T>A (n.862-5932T>A)
c.815T>A (p.Met272Lys)
c.61-5932T>A (n.61-5932T>A)
c.442-5932T>A (n.442-5932T>A)
 gnomAD v4
2g.233761102T>CCA351068563UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5932T>C (n.856-5932T>C)
c.868-5932T>C (n.868-5932T>C)
c.862-5932T>C (n.862-5932T>C)
c.815T>C (p.Met272Thr)
c.61-5932T>C (n.61-5932T>C)
c.442-5932T>C (n.442-5932T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.233761102T>GCA351068564UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5932T>G (n.856-5932T>G)
c.868-5932T>G (n.868-5932T>G)
c.862-5932T>G (n.862-5932T>G)
c.815T>G (p.Met272Arg)
c.61-5932T>G (n.61-5932T>G)
c.442-5932T>G (n.442-5932T>G)
2g.233761102T=CA1335889942UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5932T= (n.856-5932T=)
c.868-5932T= (n.868-5932T=)
c.862-5932T= (n.862-5932T=)
c.815T= (p.Met272=)
c.61-5932T= (n.61-5932T=)
c.442-5932T= (n.442-5932T=)
2g.233761103G>ACA2179891UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5931G>A (n.856-5931G>A)
c.868-5931G>A (n.868-5931G>A)
c.862-5931G>A (n.862-5931G>A)
c.816G>A (p.Met272Ile)
c.61-5931G>A (n.61-5931G>A)
c.442-5931G>A (n.442-5931G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761103G>CCA351068566UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5931G>C (n.856-5931G>C)
c.868-5931G>C (n.868-5931G>C)
c.862-5931G>C (n.862-5931G>C)
c.816G>C (p.Met272Ile)
c.61-5931G>C (n.61-5931G>C)
c.442-5931G>C (n.442-5931G>C)
2g.233761103G=CA1335889945UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5931G= (n.856-5931G=)
c.868-5931G= (n.868-5931G=)
c.862-5931G= (n.862-5931G=)
c.816G= (p.Met272=)
c.61-5931G= (n.61-5931G=)
c.442-5931G= (n.442-5931G=)
2g.233761103G>TCA351068568UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5931G>T (n.856-5931G>T)
c.868-5931G>T (n.868-5931G>T)
c.862-5931G>T (n.862-5931G>T)
c.816G>T (p.Met272Ile)
c.61-5931G>T (n.61-5931G>T)
c.442-5931G>T (n.442-5931G>T)
2g.233761104G>ACA351068573UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5930G>A (n.856-5930G>A)
c.868-5930G>A (n.868-5930G>A)
c.862-5930G>A (n.862-5930G>A)
c.817G>A (p.Val273Ile)
c.61-5930G>A (n.61-5930G>A)
c.442-5930G>A (n.442-5930G>A)
2g.233761104G>CCA351068571UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5930G>C (n.856-5930G>C)
c.868-5930G>C (n.868-5930G>C)
c.862-5930G>C (n.862-5930G>C)
c.817G>C (p.Val273Leu)
c.61-5930G>C (n.61-5930G>C)
c.442-5930G>C (n.442-5930G>C)
2g.233761104G=CA1335889949UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5930G= (n.856-5930G=)
c.868-5930G= (n.868-5930G=)
c.862-5930G= (n.862-5930G=)
c.817G= (p.Val273=)
c.61-5930G= (n.61-5930G=)
c.442-5930G= (n.442-5930G=)
2g.233761104G>TCA67590512UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5930G>T (n.856-5930G>T)
c.868-5930G>T (n.868-5930G>T)
c.862-5930G>T (n.862-5930G>T)
c.817G>T (p.Val273Phe)
c.61-5930G>T (n.61-5930G>T)
c.442-5930G>T (n.442-5930G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.233761105T>ACA351068575UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5929T>A (n.856-5929T>A)
c.868-5929T>A (n.868-5929T>A)
c.862-5929T>A (n.862-5929T>A)
c.818T>A (p.Val273Asp)
c.61-5929T>A (n.61-5929T>A)
c.442-5929T>A (n.442-5929T>A)
2g.233761105T>CCA351068578UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5929T>C (n.856-5929T>C)
c.868-5929T>C (n.868-5929T>C)
c.862-5929T>C (n.862-5929T>C)
c.818T>C (p.Val273Ala)
c.61-5929T>C (n.61-5929T>C)
c.442-5929T>C (n.442-5929T>C)
2g.233761105T>GCA351068580UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5929T>G (n.856-5929T>G)
c.868-5929T>G (n.868-5929T>G)
c.862-5929T>G (n.862-5929T>G)
c.818T>G (p.Val273Gly)
c.61-5929T>G (n.61-5929T>G)
c.442-5929T>G (n.442-5929T>G)
2g.233761109delCA645531507UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5925del (n.856-5925del)
c.868-5925del (n.868-5925del)
c.862-5925del (n.862-5925del)
c.822del (p.Phe274LeufsTer?)
c.61-5925del (n.61-5925del)
c.442-5925del (n.442-5925del)
 COSMIC COSMIC
2g.233761106T>ACA431960909UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5928T>A (n.856-5928T>A)
c.868-5928T>A (n.868-5928T>A)
c.862-5928T>A (n.862-5928T>A)
c.819T>A (p.Val273=)
c.61-5928T>A (n.61-5928T>A)
c.442-5928T>A (n.442-5928T>A)
2g.233761106T>CCA431960910UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5928T>C (n.856-5928T>C)
c.868-5928T>C (n.868-5928T>C)
c.862-5928T>C (n.862-5928T>C)
c.819T>C (p.Val273=)
c.61-5928T>C (n.61-5928T>C)
c.442-5928T>C (n.442-5928T>C)
2g.233761106T>GCA431960911UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5928T>G (n.856-5928T>G)
c.868-5928T>G (n.868-5928T>G)
c.862-5928T>G (n.862-5928T>G)
c.819T>G (p.Val273=)
c.61-5928T>G (n.61-5928T>G)
c.442-5928T>G (n.442-5928T>G)
2g.233761107T>ACA351068584UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5927T>A (n.856-5927T>A)
c.868-5927T>A (n.868-5927T>A)
c.862-5927T>A (n.862-5927T>A)
c.820T>A (p.Phe274Ile)
c.61-5927T>A (n.61-5927T>A)
c.442-5927T>A (n.442-5927T>A)
2g.233761107T>CCA351068587UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5927T>C (n.856-5927T>C)
c.868-5927T>C (n.868-5927T>C)
c.862-5927T>C (n.862-5927T>C)
c.820T>C (p.Phe274Leu)
c.61-5927T>C (n.61-5927T>C)
c.442-5927T>C (n.442-5927T>C)
2g.233761107T>GCA351068592UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5927T>G (n.856-5927T>G)
c.868-5927T>G (n.868-5927T>G)
c.862-5927T>G (n.862-5927T>G)
c.820T>G (p.Phe274Val)
c.61-5927T>G (n.61-5927T>G)
c.442-5927T>G (n.442-5927T>G)
2g.233761108T>ACA351068598UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5926T>A (n.856-5926T>A)
c.868-5926T>A (n.868-5926T>A)
c.862-5926T>A (n.862-5926T>A)
c.821T>A (p.Phe274Tyr)
c.61-5926T>A (n.61-5926T>A)
c.442-5926T>A (n.442-5926T>A)
2g.233761108T>CCA351068594UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5926T>C (n.856-5926T>C)
c.868-5926T>C (n.868-5926T>C)
c.862-5926T>C (n.862-5926T>C)
c.821T>C (p.Phe274Ser)
c.61-5926T>C (n.61-5926T>C)
c.442-5926T>C (n.442-5926T>C)
2g.233761108T>GCA351068595UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5926T>G (n.856-5926T>G)
c.868-5926T>G (n.868-5926T>G)
c.862-5926T>G (n.862-5926T>G)
c.821T>G (p.Phe274Cys)
c.61-5926T>G (n.61-5926T>G)
c.442-5926T>G (n.442-5926T>G)
2g.233761111_233761113delCA2586965613UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5923_856-5921del (n.856-5923_856-5921del)
c.868-5923_868-5921del (n.868-5923_868-5921del)
c.862-5923_862-5921del (n.862-5923_862-5921del)
c.824_826del (p.Val275del)
c.61-5923_61-5921del (n.61-5923_61-5921del)
c.442-5923_442-5921del (n.442-5923_442-5921del)
2g.233761109T>ACA351068601UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5925T>A (n.856-5925T>A)
c.868-5925T>A (n.868-5925T>A)
c.862-5925T>A (n.862-5925T>A)
c.822T>A (p.Phe274Leu)
c.61-5925T>A (n.61-5925T>A)
c.442-5925T>A (n.442-5925T>A)
2g.233761109T>CCA431960914UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5925T>C (n.856-5925T>C)
c.868-5925T>C (n.868-5925T>C)
c.862-5925T>C (n.862-5925T>C)
c.822T>C (p.Phe274=)
c.61-5925T>C (n.61-5925T>C)
c.442-5925T>C (n.442-5925T>C)
 dbSNP
2g.233761109T>GCA351068603UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5925T>G (n.856-5925T>G)
c.868-5925T>G (n.868-5925T>G)
c.862-5925T>G (n.862-5925T>G)
c.822T>G (p.Phe274Leu)
c.61-5925T>G (n.61-5925T>G)
c.442-5925T>G (n.442-5925T>G)
2g.233761110G>ACA351068606UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5924G>A (n.856-5924G>A)
c.868-5924G>A (n.868-5924G>A)
c.862-5924G>A (n.862-5924G>A)
c.823G>A (p.Val275Ile)
c.61-5924G>A (n.61-5924G>A)
c.442-5924G>A (n.442-5924G>A)
 gnomAD v4
2g.233761110G>CCA351068607UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5924G>C (n.856-5924G>C)
c.868-5924G>C (n.868-5924G>C)
c.862-5924G>C (n.862-5924G>C)
c.823G>C (p.Val275Leu)
c.61-5924G>C (n.61-5924G>C)
c.442-5924G>C (n.442-5924G>C)
2g.233761110G=CA1335889953UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5924G= (n.856-5924G=)
c.868-5924G= (n.868-5924G=)
c.862-5924G= (n.862-5924G=)
c.823G= (p.Val275=)
c.61-5924G= (n.61-5924G=)
c.442-5924G= (n.442-5924G=)
2g.233761110G>TCA351068609UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5924G>T (n.856-5924G>T)
c.868-5924G>T (n.868-5924G>T)
c.862-5924G>T (n.862-5924G>T)
c.823G>T (p.Val275Phe)
c.61-5924G>T (n.61-5924G>T)
c.442-5924G>T (n.442-5924G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233761111T>ACA351068611UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5923T>A (n.856-5923T>A)
c.868-5923T>A (n.868-5923T>A)
c.862-5923T>A (n.862-5923T>A)
c.824T>A (p.Val275Asp)
c.61-5923T>A (n.61-5923T>A)
c.442-5923T>A (n.442-5923T>A)
2g.233761111T>CCA351068614UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5923T>C (n.856-5923T>C)
c.868-5923T>C (n.868-5923T>C)
c.862-5923T>C (n.862-5923T>C)
c.824T>C (p.Val275Ala)
c.61-5923T>C (n.61-5923T>C)
c.442-5923T>C (n.442-5923T>C)
 gnomAD v4
2g.233761111T>GCA351068613UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5923T>G (n.856-5923T>G)
c.868-5923T>G (n.868-5923T>G)
c.862-5923T>G (n.862-5923T>G)
c.824T>G (p.Val275Gly)
c.61-5923T>G (n.61-5923T>G)
c.442-5923T>G (n.442-5923T>G)
 gnomAD v4
2g.233761112T>ACA431960918UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5922T>A (n.856-5922T>A)
c.868-5922T>A (n.868-5922T>A)
c.862-5922T>A (n.862-5922T>A)
c.825T>A (p.Val275=)
c.61-5922T>A (n.61-5922T>A)
c.442-5922T>A (n.442-5922T>A)
2g.233761112T>CCA2179892UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5922T>C (n.856-5922T>C)
c.868-5922T>C (n.868-5922T>C)
c.862-5922T>C (n.862-5922T>C)
c.825T>C (p.Val275=)
c.61-5922T>C (n.61-5922T>C)
c.442-5922T>C (n.442-5922T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761112T>GCA431960919UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5922T>G (n.856-5922T>G)
c.868-5922T>G (n.868-5922T>G)
c.862-5922T>G (n.862-5922T>G)
c.825T>G (p.Val275=)
c.61-5922T>G (n.61-5922T>G)
c.442-5922T>G (n.442-5922T>G)
2g.233761112T=CA1335889959UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5922T= (n.856-5922T=)
c.868-5922T= (n.868-5922T=)
c.862-5922T= (n.862-5922T=)
c.825T= (p.Val275=)
c.61-5922T= (n.61-5922T=)
c.442-5922T= (n.442-5922T=)
2g.233761113G>ACA351068618UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5921G>A (n.856-5921G>A)
c.868-5921G>A (n.868-5921G>A)
c.862-5921G>A (n.862-5921G>A)
c.826G>A (p.Gly276Ser)
c.61-5921G>A (n.61-5921G>A)
c.442-5921G>A (n.442-5921G>A)
2g.233761113G>CCA2179894UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5921G>C (n.856-5921G>C)
c.868-5921G>C (n.868-5921G>C)
c.862-5921G>C (n.862-5921G>C)
c.826G>C (p.Gly276Arg)
c.61-5921G>C (n.61-5921G>C)
c.442-5921G>C (n.442-5921G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761113G=CA1335889964UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5921G= (n.856-5921G=)
c.868-5921G= (n.868-5921G=)
c.862-5921G= (n.862-5921G=)
c.826G= (p.Gly276=)
c.61-5921G= (n.61-5921G=)
c.442-5921G= (n.442-5921G=)
2g.233761113G>TCA2179893UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5921G>T (n.856-5921G>T)
c.868-5921G>T (n.868-5921G>T)
c.862-5921G>T (n.862-5921G>T)
c.826G>T (p.Gly276Cys)
c.61-5921G>T (n.61-5921G>T)
c.442-5921G>T (n.442-5921G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761113_233761114insAAGGCACA2740378339UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5921_856-5920insAAGGCA (n.856-5921_856-5920insAAGGCA)
c.868-5921_868-5920insAAGGCA (n.868-5921_868-5920insAAGGCA)
c.862-5921_862-5920insAAGGCA (n.862-5921_862-5920insAAGGCA)
c.826_827insAAGGCA (p.Gly276delinsGluGlySer)
c.61-5921_61-5920insAAGGCA (n.61-5921_61-5920insAAGGCA)
c.442-5921_442-5920insAAGGCA (n.442-5921_442-5920insAAGGCA)
2g.233761114G>ACA2179895UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5920G>A (n.856-5920G>A)
c.868-5920G>A (n.868-5920G>A)
c.862-5920G>A (n.862-5920G>A)
c.827G>A (p.Gly276Asp)
c.61-5920G>A (n.61-5920G>A)
c.442-5920G>A (n.442-5920G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761114G>CCA351068625UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5920G>C (n.856-5920G>C)
c.868-5920G>C (n.868-5920G>C)
c.862-5920G>C (n.862-5920G>C)
c.827G>C (p.Gly276Ala)
c.61-5920G>C (n.61-5920G>C)
c.442-5920G>C (n.442-5920G>C)
2g.233761114G=CA1335889967UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5920G= (n.856-5920G=)
c.868-5920G= (n.868-5920G=)
c.862-5920G= (n.862-5920G=)
c.827G= (p.Gly276=)
c.61-5920G= (n.61-5920G=)
c.442-5920G= (n.442-5920G=)
2g.233761114G>TCA351068627UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5920G>T (n.856-5920G>T)
c.868-5920G>T (n.868-5920G>T)
c.862-5920G>T (n.862-5920G>T)
c.827G>T (p.Gly276Val)
c.61-5920G>T (n.61-5920G>T)
c.442-5920G>T (n.442-5920G>T)
 dbSNP
2g.233761115T>ACA431960922UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5919T>A (n.856-5919T>A)
c.868-5919T>A (n.868-5919T>A)
c.862-5919T>A (n.862-5919T>A)
c.828T>A (p.Gly276=)
c.61-5919T>A (n.61-5919T>A)
c.442-5919T>A (n.442-5919T>A)
2g.233761115T>CCA431960920UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5919T>C (n.856-5919T>C)
c.868-5919T>C (n.868-5919T>C)
c.862-5919T>C (n.862-5919T>C)
c.828T>C (p.Gly276=)
c.61-5919T>C (n.61-5919T>C)
c.442-5919T>C (n.442-5919T>C)
2g.233761115T>GCA431960921UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5919T>G (n.856-5919T>G)
c.868-5919T>G (n.868-5919T>G)
c.862-5919T>G (n.862-5919T>G)
c.828T>G (p.Gly276=)
c.61-5919T>G (n.61-5919T>G)
c.442-5919T>G (n.442-5919T>G)
2g.233761116G>ACA351068630UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5918G>A (n.856-5918G>A)
c.868-5918G>A (n.868-5918G>A)
c.862-5918G>A (n.862-5918G>A)
c.829G>A (p.Gly277Arg)
c.61-5918G>A (n.61-5918G>A)
c.442-5918G>A (n.442-5918G>A)
2g.233761116G>CCA351068632UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5918G>C (n.856-5918G>C)
c.868-5918G>C (n.868-5918G>C)
c.862-5918G>C (n.862-5918G>C)
c.829G>C (p.Gly277Arg)
c.61-5918G>C (n.61-5918G>C)
c.442-5918G>C (n.442-5918G>C)
2g.233761116G>TCA351068633UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5918G>T (n.856-5918G>T)
c.868-5918G>T (n.868-5918G>T)
c.862-5918G>T (n.862-5918G>T)
c.829G>T (p.Gly277Ter)
c.61-5918G>T (n.61-5918G>T)
c.442-5918G>T (n.442-5918G>T)
2g.233761117G>ACA351068641UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5917G>A (n.856-5917G>A)
c.868-5917G>A (n.868-5917G>A)
c.862-5917G>A (n.862-5917G>A)
c.830G>A (p.Gly277Glu)
c.61-5917G>A (n.61-5917G>A)
c.442-5917G>A (n.442-5917G>A)
2g.233761117G>CCA351068639UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5917G>C (n.856-5917G>C)
c.868-5917G>C (n.868-5917G>C)
c.862-5917G>C (n.862-5917G>C)
c.830G>C (p.Gly277Ala)
c.61-5917G>C (n.61-5917G>C)
c.442-5917G>C (n.442-5917G>C)
2g.233761117G>TCA351068636UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5917G>T (n.856-5917G>T)
c.868-5917G>T (n.868-5917G>T)
c.862-5917G>T (n.862-5917G>T)
c.830G>T (p.Gly277Val)
c.61-5917G>T (n.61-5917G>T)
c.442-5917G>T (n.442-5917G>T)
2g.233761118A>CCA431960923UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5916A>C (n.856-5916A>C)
c.868-5916A>C (n.868-5916A>C)
c.862-5916A>C (n.862-5916A>C)
c.831A>C (p.Gly277=)
c.61-5916A>C (n.61-5916A>C)
c.442-5916A>C (n.442-5916A>C)
2g.233761118A>GCA431960924UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5916A>G (n.856-5916A>G)
c.868-5916A>G (n.868-5916A>G)
c.862-5916A>G (n.862-5916A>G)
c.831A>G (p.Gly277=)
c.61-5916A>G (n.61-5916A>G)
c.442-5916A>G (n.442-5916A>G)
2g.233761118A>TCA431960926UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5916A>T (n.856-5916A>T)
c.868-5916A>T (n.868-5916A>T)
c.862-5916A>T (n.862-5916A>T)
c.831A>T (p.Gly277=)
c.61-5916A>T (n.61-5916A>T)
c.442-5916A>T (n.442-5916A>T)
2g.233761119A>CCA351068645UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5915A>C (n.856-5915A>C)
c.868-5915A>C (n.868-5915A>C)
c.862-5915A>C (n.862-5915A>C)
c.832A>C (p.Ile278Leu)
c.61-5915A>C (n.61-5915A>C)
c.442-5915A>C (n.442-5915A>C)
2g.233761119A>GCA351068649UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5915A>G (n.856-5915A>G)
c.868-5915A>G (n.868-5915A>G)
c.862-5915A>G (n.862-5915A>G)
c.832A>G (p.Ile278Val)
c.61-5915A>G (n.61-5915A>G)
c.442-5915A>G (n.442-5915A>G)
2g.233761119A>TCA351068647UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5915A>T (n.856-5915A>T)
c.868-5915A>T (n.868-5915A>T)
c.862-5915A>T (n.862-5915A>T)
c.832A>T (p.Ile278Phe)
c.61-5915A>T (n.61-5915A>T)
c.442-5915A>T (n.442-5915A>T)
 gnomAD v4
2g.233761120T>ACA351068653UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5914T>A (n.856-5914T>A)
c.868-5914T>A (n.868-5914T>A)
c.862-5914T>A (n.862-5914T>A)
c.833T>A (p.Ile278Asn)
c.61-5914T>A (n.61-5914T>A)
c.442-5914T>A (n.442-5914T>A)
2g.233761120T>CCA351068657UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5914T>C (n.856-5914T>C)
c.868-5914T>C (n.868-5914T>C)
c.862-5914T>C (n.862-5914T>C)
c.833T>C (p.Ile278Thr)
c.61-5914T>C (n.61-5914T>C)
c.442-5914T>C (n.442-5914T>C)
2g.233761120T>GCA351068656UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5914T>G (n.856-5914T>G)
c.868-5914T>G (n.868-5914T>G)
c.862-5914T>G (n.862-5914T>G)
c.833T>G (p.Ile278Ser)
c.61-5914T>G (n.61-5914T>G)
c.442-5914T>G (n.442-5914T>G)
 dbSNP gnomAD v2
2g.233761120T=CA1335889970UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5914T= (n.856-5914T=)
c.868-5914T= (n.868-5914T=)
c.862-5914T= (n.862-5914T=)
c.833T= (p.Ile278=)
c.61-5914T= (n.61-5914T=)
c.442-5914T= (n.442-5914T=)
2g.233761121C>ACA431960929UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5913C>A (n.856-5913C>A)
c.868-5913C>A (n.868-5913C>A)
c.862-5913C>A (n.862-5913C>A)
c.834C>A (p.Ile278=)
c.61-5913C>A (n.61-5913C>A)
c.442-5913C>A (n.442-5913C>A)
2g.233761121C=CA1335889973UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5913C= (n.856-5913C=)
c.868-5913C= (n.868-5913C=)
c.862-5913C= (n.862-5913C=)
c.834C= (p.Ile278=)
c.61-5913C= (n.61-5913C=)
c.442-5913C= (n.442-5913C=)
2g.233761121C>GCA351068659UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5913C>G (n.856-5913C>G)
c.868-5913C>G (n.868-5913C>G)
c.862-5913C>G (n.862-5913C>G)
c.834C>G (p.Ile278Met)
c.61-5913C>G (n.61-5913C>G)
c.442-5913C>G (n.442-5913C>G)
2g.233761121C>TCA431960930UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5913C>T (n.856-5913C>T)
c.868-5913C>T (n.868-5913C>T)
c.862-5913C>T (n.862-5913C>T)
c.834C>T (p.Ile278=)
c.61-5913C>T (n.61-5913C>T)
c.442-5913C>T (n.442-5913C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.233761122A=CA1335889976UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5912A= (n.856-5912A=)
c.868-5912A= (n.868-5912A=)
c.862-5912A= (n.862-5912A=)
c.835A= (p.Asn279=)
c.61-5912A= (n.61-5912A=)
c.442-5912A= (n.442-5912A=)
2g.233761122A>CCA351068662UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5912A>C (n.856-5912A>C)
c.868-5912A>C (n.868-5912A>C)
c.862-5912A>C (n.862-5912A>C)
c.835A>C (p.Asn279His)
c.61-5912A>C (n.61-5912A>C)
c.442-5912A>C (n.442-5912A>C)
2g.233761122A>GCA351068661UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5912A>G (n.856-5912A>G)
c.868-5912A>G (n.868-5912A>G)
c.862-5912A>G (n.862-5912A>G)
c.835A>G (p.Asn279Asp)
c.61-5912A>G (n.61-5912A>G)
c.442-5912A>G (n.442-5912A>G)
2g.233761122A>TCA2179896UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5912A>T (n.856-5912A>T)
c.868-5912A>T (n.868-5912A>T)
c.862-5912A>T (n.862-5912A>T)
c.835A>T (p.Asn279Tyr)
c.61-5912A>T (n.61-5912A>T)
c.442-5912A>T (n.442-5912A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761123A>CCA351068666UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5911A>C (n.856-5911A>C)
c.868-5911A>C (n.868-5911A>C)
c.862-5911A>C (n.862-5911A>C)
c.836A>C (p.Asn279Thr)
c.61-5911A>C (n.61-5911A>C)
c.442-5911A>C (n.442-5911A>C)
2g.233761123A>GCA351068669UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5911A>G (n.856-5911A>G)
c.868-5911A>G (n.868-5911A>G)
c.862-5911A>G (n.862-5911A>G)
c.836A>G (p.Asn279Ser)
c.61-5911A>G (n.61-5911A>G)
c.442-5911A>G (n.442-5911A>G)
2g.233761123A>TCA351068667UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5911A>T (n.856-5911A>T)
c.868-5911A>T (n.868-5911A>T)
c.862-5911A>T (n.862-5911A>T)
c.836A>T (p.Asn279Ile)
c.61-5911A>T (n.61-5911A>T)
c.442-5911A>T (n.442-5911A>T)
2g.233761124C>ACA351068670UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5910C>A (n.856-5910C>A)
c.868-5910C>A (n.868-5910C>A)
c.862-5910C>A (n.862-5910C>A)
c.837C>A (p.Asn279Lys)
c.61-5910C>A (n.61-5910C>A)
c.442-5910C>A (n.442-5910C>A)
2g.233761124C=CA1335889982UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5910C= (n.856-5910C=)
c.868-5910C= (n.868-5910C=)
c.862-5910C= (n.862-5910C=)
c.837C= (p.Asn279=)
c.61-5910C= (n.61-5910C=)
c.442-5910C= (n.442-5910C=)
2g.233761124C>GCA351068671UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5910C>G (n.856-5910C>G)
c.868-5910C>G (n.868-5910C>G)
c.862-5910C>G (n.862-5910C>G)
c.837C>G (p.Asn279Lys)
c.61-5910C>G (n.61-5910C>G)
c.442-5910C>G (n.442-5910C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.233761124C>TCA431960934UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5910C>T (n.856-5910C>T)
c.868-5910C>T (n.868-5910C>T)
c.862-5910C>T (n.862-5910C>T)
c.837C>T (p.Asn279=)
c.61-5910C>T (n.61-5910C>T)
c.442-5910C>T (n.442-5910C>T)
 gnomAD v4
2g.233761125T>ACA351068672UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5909T>A (n.856-5909T>A)
c.868-5909T>A (n.868-5909T>A)
c.862-5909T>A (n.862-5909T>A)
c.838T>A (p.Cys280Ser)
c.61-5909T>A (n.61-5909T>A)
c.442-5909T>A (n.442-5909T>A)
2g.233761125T>CCA351068673UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5909T>C (n.856-5909T>C)
c.868-5909T>C (n.868-5909T>C)
c.862-5909T>C (n.862-5909T>C)
c.838T>C (p.Cys280Arg)
c.61-5909T>C (n.61-5909T>C)
c.442-5909T>C (n.442-5909T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.233761125T>GCA2179897UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5909T>G (n.856-5909T>G)
c.868-5909T>G (n.868-5909T>G)
c.862-5909T>G (n.862-5909T>G)
c.838T>G (p.Cys280Gly)
c.61-5909T>G (n.61-5909T>G)
c.442-5909T>G (n.442-5909T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761125T=CA1335889988UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5909T= (n.856-5909T=)
c.868-5909T= (n.868-5909T=)
c.862-5909T= (n.862-5909T=)
c.838T= (p.Cys280=)
c.61-5909T= (n.61-5909T=)
c.442-5909T= (n.442-5909T=)
2g.233761126G>ACA351068676UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5908G>A (n.856-5908G>A)
c.868-5908G>A (n.868-5908G>A)
c.862-5908G>A (n.862-5908G>A)
c.839G>A (p.Cys280Tyr)
c.61-5908G>A (n.61-5908G>A)
c.442-5908G>A (n.442-5908G>A)
2g.233761126G>CCA351068679UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5908G>C (n.856-5908G>C)
c.868-5908G>C (n.868-5908G>C)
c.862-5908G>C (n.862-5908G>C)
c.839G>C (p.Cys280Ser)
c.61-5908G>C (n.61-5908G>C)
c.442-5908G>C (n.442-5908G>C)
2g.233761126G>TCA351068680UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5908G>T (n.856-5908G>T)
c.868-5908G>T (n.868-5908G>T)
c.862-5908G>T (n.862-5908G>T)
c.839G>T (p.Cys280Phe)
c.61-5908G>T (n.61-5908G>T)
c.442-5908G>T (n.442-5908G>T)
2g.233761127C>ACA122065UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5907C>A (n.856-5907C>A)
c.868-5907C>A (n.868-5907C>A)
c.862-5907C>A (n.862-5907C>A)
c.840C>A (p.Cys280Ter)
c.61-5907C>A (n.61-5907C>A)
c.442-5907C>A (n.442-5907C>A)
 ClinVar dbSNP gnomAD v4
2g.233761127C=CA1335889993UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5907C= (n.856-5907C=)
c.868-5907C= (n.868-5907C=)
c.862-5907C= (n.862-5907C=)
c.840C= (p.Cys280=)
c.61-5907C= (n.61-5907C=)
c.442-5907C= (n.442-5907C=)
2g.233761127C>GCA67590557UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5907C>G (n.856-5907C>G)
c.868-5907C>G (n.868-5907C>G)
c.862-5907C>G (n.862-5907C>G)
c.840C>G (p.Cys280Trp)
c.61-5907C>G (n.61-5907C>G)
c.442-5907C>G (n.442-5907C>G)
 dbSNP
2g.233761127C>TCA431960935UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5907C>T (n.856-5907C>T)
c.868-5907C>T (n.868-5907C>T)
c.862-5907C>T (n.862-5907C>T)
c.840C>T (p.Cys280=)
c.61-5907C>T (n.61-5907C>T)
c.442-5907C>T (n.442-5907C>T)
2g.233761128C>ACA351068695UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5906C>A (n.856-5906C>A)
c.868-5906C>A (n.868-5906C>A)
c.862-5906C>A (n.862-5906C>A)
c.841C>A (p.Leu281Ile)
c.61-5906C>A (n.61-5906C>A)
c.442-5906C>A (n.442-5906C>A)
2g.233761128C>GCA351068692UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5906C>G (n.856-5906C>G)
c.868-5906C>G (n.868-5906C>G)
c.862-5906C>G (n.862-5906C>G)
c.841C>G (p.Leu281Val)
c.61-5906C>G (n.61-5906C>G)
c.442-5906C>G (n.442-5906C>G)
2g.233761128C>TCA351068689UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5906C>T (n.856-5906C>T)
c.868-5906C>T (n.868-5906C>T)
c.862-5906C>T (n.862-5906C>T)
c.841C>T (p.Leu281Phe)
c.61-5906C>T (n.61-5906C>T)
c.442-5906C>T (n.442-5906C>T)
 gnomAD v4
2g.233761129T>ACA351068699UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5905T>A (n.856-5905T>A)
c.868-5905T>A (n.868-5905T>A)
c.862-5905T>A (n.862-5905T>A)
c.842T>A (p.Leu281His)
c.61-5905T>A (n.61-5905T>A)
c.442-5905T>A (n.442-5905T>A)
2g.233761129T>CCA351068700UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5905T>C (n.856-5905T>C)
c.868-5905T>C (n.868-5905T>C)
c.862-5905T>C (n.862-5905T>C)
c.842T>C (p.Leu281Pro)
c.61-5905T>C (n.61-5905T>C)
c.442-5905T>C (n.442-5905T>C)
2g.233761129T>GCA351068706UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5905T>G (n.856-5905T>G)
c.868-5905T>G (n.868-5905T>G)
c.862-5905T>G (n.862-5905T>G)
c.842T>G (p.Leu281Arg)
c.61-5905T>G (n.61-5905T>G)
c.442-5905T>G (n.442-5905T>G)
2g.233761130T>ACA431960940UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5904T>A (n.856-5904T>A)
c.868-5904T>A (n.868-5904T>A)
c.862-5904T>A (n.862-5904T>A)
c.843T>A (p.Leu281=)
c.61-5904T>A (n.61-5904T>A)
c.442-5904T>A (n.442-5904T>A)
2g.233761130T>CCA431960941UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5904T>C (n.856-5904T>C)
c.868-5904T>C (n.868-5904T>C)
c.862-5904T>C (n.862-5904T>C)
c.843T>C (p.Leu281=)
c.61-5904T>C (n.61-5904T>C)
c.442-5904T>C (n.442-5904T>C)
2g.233761130T>GCA431960939UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5904T>G (n.856-5904T>G)
c.868-5904T>G (n.868-5904T>G)
c.862-5904T>G (n.862-5904T>G)
c.843T>G (p.Leu281=)
c.61-5904T>G (n.61-5904T>G)
c.442-5904T>G (n.442-5904T>G)
2g.233761131delCA2663717743UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5903del (n.856-5903del)
c.868-5903del (n.868-5903del)
c.862-5903del (n.862-5903del)
c.844del (p.His282ThrfsTer?)
c.61-5903del (n.61-5903del)
c.442-5903del (n.442-5903del)
 gnomAD v4
2g.233761131C>ACA351068707UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5903C>A (n.856-5903C>A)
c.868-5903C>A (n.868-5903C>A)
c.862-5903C>A (n.862-5903C>A)
c.844C>A (p.His282Asn)
c.61-5903C>A (n.61-5903C>A)
c.442-5903C>A (n.442-5903C>A)
2g.233761131C>GCA351068708UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5903C>G (n.856-5903C>G)
c.868-5903C>G (n.868-5903C>G)
c.862-5903C>G (n.862-5903C>G)
c.844C>G (p.His282Asp)
c.61-5903C>G (n.61-5903C>G)
c.442-5903C>G (n.442-5903C>G)
2g.233761131C>TCA351068711UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5903C>T (n.856-5903C>T)
c.868-5903C>T (n.868-5903C>T)
c.862-5903C>T (n.862-5903C>T)
c.844C>T (p.His282Tyr)
c.61-5903C>T (n.61-5903C>T)
c.442-5903C>T (n.442-5903C>T)
2g.233761132A>CCA351068712UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5902A>C (n.856-5902A>C)
c.868-5902A>C (n.868-5902A>C)
c.862-5902A>C (n.862-5902A>C)
c.845A>C (p.His282Pro)
c.61-5902A>C (n.61-5902A>C)
c.442-5902A>C (n.442-5902A>C)
2g.233761132A>GCA351068713UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5902A>G (n.856-5902A>G)
c.868-5902A>G (n.868-5902A>G)
c.862-5902A>G (n.862-5902A>G)
c.845A>G (p.His282Arg)
c.61-5902A>G (n.61-5902A>G)
c.442-5902A>G (n.442-5902A>G)
2g.233761132A>TCA351068715UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5902A>T (n.856-5902A>T)
c.868-5902A>T (n.868-5902A>T)
c.862-5902A>T (n.862-5902A>T)
c.845A>T (p.His282Leu)
c.61-5902A>T (n.61-5902A>T)
c.442-5902A>T (n.442-5902A>T)
2g.233761133C>ACA351068719UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5901C>A (n.856-5901C>A)
c.868-5901C>A (n.868-5901C>A)
c.862-5901C>A (n.862-5901C>A)
c.846C>A (p.His282Gln)
c.61-5901C>A (n.61-5901C>A)
c.442-5901C>A (n.442-5901C>A)
2g.233761133C>GCA351068720UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5901C>G (n.856-5901C>G)
c.868-5901C>G (n.868-5901C>G)
c.862-5901C>G (n.862-5901C>G)
c.846C>G (p.His282Gln)
c.61-5901C>G (n.61-5901C>G)
c.442-5901C>G (n.442-5901C>G)
2g.233761133C>TCA431960943UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5901C>T (n.856-5901C>T)
c.868-5901C>T (n.868-5901C>T)
c.862-5901C>T (n.862-5901C>T)
c.846C>T (p.His282=)
c.61-5901C>T (n.61-5901C>T)
c.442-5901C>T (n.442-5901C>T)
2g.233761134C>ACA351068724UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5900C>A (n.856-5900C>A)
c.868-5900C>A (n.868-5900C>A)
c.862-5900C>A (n.862-5900C>A)
c.847C>A (p.Gln283Lys)
c.61-5900C>A (n.61-5900C>A)
c.442-5900C>A (n.442-5900C>A)
2g.233761134C=CA1335889997UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5900C= (n.856-5900C=)
c.868-5900C= (n.868-5900C=)
c.862-5900C= (n.862-5900C=)
c.847C= (p.Gln283=)
c.61-5900C= (n.61-5900C=)
c.442-5900C= (n.442-5900C=)
2g.233761134C>GCA351068725UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5900C>G (n.856-5900C>G)
c.868-5900C>G (n.868-5900C>G)
c.862-5900C>G (n.862-5900C>G)
c.847C>G (p.Gln283Glu)
c.61-5900C>G (n.61-5900C>G)
c.442-5900C>G (n.442-5900C>G)
2g.233761134C>TCA351068722UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5900C>T (n.856-5900C>T)
c.868-5900C>T (n.868-5900C>T)
c.862-5900C>T (n.862-5900C>T)
c.847C>T (p.Gln283Ter)
c.61-5900C>T (n.61-5900C>T)
c.442-5900C>T (n.442-5900C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.233761135A=CA1335890000UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5899A= (n.856-5899A=)
c.868-5899A= (n.868-5899A=)
c.862-5899A= (n.862-5899A=)
c.848A= (p.Gln283=)
c.61-5899A= (n.61-5899A=)
c.442-5899A= (n.442-5899A=)
2g.233761135A>CCA351068728UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5899A>C (n.856-5899A>C)
c.868-5899A>C (n.868-5899A>C)
c.862-5899A>C (n.862-5899A>C)
c.848A>C (p.Gln283Pro)
c.61-5899A>C (n.61-5899A>C)
c.442-5899A>C (n.442-5899A>C)
2g.233761135A>GCA2179898UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5899A>G (n.856-5899A>G)
c.868-5899A>G (n.868-5899A>G)
c.862-5899A>G (n.862-5899A>G)
c.848A>G (p.Gln283Arg)
c.61-5899A>G (n.61-5899A>G)
c.442-5899A>G (n.442-5899A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761135A>TCA351068732UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5899A>T (n.856-5899A>T)
c.868-5899A>T (n.868-5899A>T)
c.862-5899A>T (n.862-5899A>T)
c.848A>T (p.Gln283Leu)
c.61-5899A>T (n.61-5899A>T)
c.442-5899A>T (n.442-5899A>T)
2g.233761136A=CA1335890003UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5898A= (n.856-5898A=)
c.868-5898A= (n.868-5898A=)
c.862-5898A= (n.862-5898A=)
c.849A= (p.Gln283=)
c.61-5898A= (n.61-5898A=)
c.442-5898A= (n.442-5898A=)
2g.233761136A>CCA351068735UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5898A>C (n.856-5898A>C)
c.868-5898A>C (n.868-5898A>C)
c.862-5898A>C (n.862-5898A>C)
c.849A>C (p.Gln283His)
c.61-5898A>C (n.61-5898A>C)
c.442-5898A>C (n.442-5898A>C)
2g.233761136A>GCA2179899UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5898A>G (n.856-5898A>G)
c.868-5898A>G (n.868-5898A>G)
c.862-5898A>G (n.862-5898A>G)
c.849A>G (p.Gln283=)
c.61-5898A>G (n.61-5898A>G)
c.442-5898A>G (n.442-5898A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761136A>TCA351068737UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5898A>T (n.856-5898A>T)
c.868-5898A>T (n.868-5898A>T)
c.862-5898A>T (n.862-5898A>T)
c.849A>T (p.Gln283His)
c.61-5898A>T (n.61-5898A>T)
c.442-5898A>T (n.442-5898A>T)
2g.233761137A>CCA351068741UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5897A>C (n.856-5897A>C)
c.868-5897A>C (n.868-5897A>C)
c.862-5897A>C (n.862-5897A>C)
c.850A>C (p.Asn284His)
c.61-5897A>C (n.61-5897A>C)
c.442-5897A>C (n.442-5897A>C)
2g.233761137A>GCA351068738UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5897A>G (n.856-5897A>G)
c.868-5897A>G (n.868-5897A>G)
c.862-5897A>G (n.862-5897A>G)
c.850A>G (p.Asn284Asp)
c.61-5897A>G (n.61-5897A>G)
c.442-5897A>G (n.442-5897A>G)
2g.233761137A>TCA351068739UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5897A>T (n.856-5897A>T)
c.868-5897A>T (n.868-5897A>T)
c.862-5897A>T (n.862-5897A>T)
c.850A>T (p.Asn284Tyr)
c.61-5897A>T (n.61-5897A>T)
c.442-5897A>T (n.442-5897A>T)
 gnomAD v4
2g.233761137_233761138insCACACCCAACACCA2754693304UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5897_856-5896insCACACCCAACAC (n.856-5897_856-5896insCACACCCAACAC)
c.868-5897_868-5896insCACACCCAACAC (n.868-5897_868-5896insCACACCCAACAC)
c.862-5897_862-5896insCACACCCAACAC (n.862-5897_862-5896insCACACCCAACAC)
c.850_851insCACACCCAACAC (p.Asn284delinsThrHisProThrHis)
c.61-5897_61-5896insCACACCCAACAC (n.61-5897_61-5896insCACACCCAACAC)
c.442-5897_442-5896insCACACCCAACAC (n.442-5897_442-5896insCACACCCAACAC)
2g.233761138A=CA1335890007UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5896A= (n.856-5896A=)
c.868-5896A= (n.868-5896A=)
c.862-5896A= (n.862-5896A=)
c.851A= (p.Asn284=)
c.61-5896A= (n.61-5896A=)
c.442-5896A= (n.442-5896A=)
2g.233761138A>CCA351068743UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5896A>C (n.856-5896A>C)
c.868-5896A>C (n.868-5896A>C)
c.862-5896A>C (n.862-5896A>C)
c.851A>C (p.Asn284Thr)
c.61-5896A>C (n.61-5896A>C)
c.442-5896A>C (n.442-5896A>C)
2g.233761138A>GCA351068744UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5896A>G (n.856-5896A>G)
c.868-5896A>G (n.868-5896A>G)
c.862-5896A>G (n.862-5896A>G)
c.851A>G (p.Asn284Ser)
c.61-5896A>G (n.61-5896A>G)
c.442-5896A>G (n.442-5896A>G)
 dbSNP gnomAD v4
2g.233761138A>TCA351068746UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5896A>T (n.856-5896A>T)
c.868-5896A>T (n.868-5896A>T)
c.862-5896A>T (n.862-5896A>T)
c.851A>T (p.Asn284Ile)
c.61-5896A>T (n.61-5896A>T)
c.442-5896A>T (n.442-5896A>T)
2g.233761139T>ACA351068749UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5895T>A (n.856-5895T>A)
c.868-5895T>A (n.868-5895T>A)
c.862-5895T>A (n.862-5895T>A)
c.852T>A (p.Asn284Lys)
c.61-5895T>A (n.61-5895T>A)
c.442-5895T>A (n.442-5895T>A)
2g.233761139T>CCA431960946UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5895T>C (n.856-5895T>C)
c.868-5895T>C (n.868-5895T>C)
c.862-5895T>C (n.862-5895T>C)
c.852T>C (p.Asn284=)
c.61-5895T>C (n.61-5895T>C)
c.442-5895T>C (n.442-5895T>C)
2g.233761139T>GCA351068752UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5895T>G (n.856-5895T>G)
c.868-5895T>G (n.868-5895T>G)
c.862-5895T>G (n.862-5895T>G)
c.852T>G (p.Asn284Lys)
c.61-5895T>G (n.61-5895T>G)
c.442-5895T>G (n.442-5895T>G)
2g.233761140C>ACA351068756UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5894C>A (n.856-5894C>A)
c.868-5894C>A (n.868-5894C>A)
c.862-5894C>A (n.862-5894C>A)
c.853C>A (p.Pro285Thr)
c.61-5894C>A (n.61-5894C>A)
c.442-5894C>A (n.442-5894C>A)
2g.233761140C>GCA351068762UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5894C>G (n.856-5894C>G)
c.868-5894C>G (n.868-5894C>G)
c.862-5894C>G (n.862-5894C>G)
c.853C>G (p.Pro285Ala)
c.61-5894C>G (n.61-5894C>G)
c.442-5894C>G (n.442-5894C>G)
2g.233761140C>TCA351068759UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5894C>T (n.856-5894C>T)
c.868-5894C>T (n.868-5894C>T)
c.862-5894C>T (n.862-5894C>T)
c.853C>T (p.Pro285Ser)
c.61-5894C>T (n.61-5894C>T)
c.442-5894C>T (n.442-5894C>T)
 COSMIC
2g.233761141C>ACA351068764UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5893C>A (n.856-5893C>A)
c.868-5893C>A (n.868-5893C>A)
c.862-5893C>A (n.862-5893C>A)
c.854C>A (p.Pro285Gln)
c.61-5893C>A (n.61-5893C>A)
c.442-5893C>A (n.442-5893C>A)
2g.233761141C>GCA351068766UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5893C>G (n.856-5893C>G)
c.868-5893C>G (n.868-5893C>G)
c.862-5893C>G (n.862-5893C>G)
c.854C>G (p.Pro285Arg)
c.61-5893C>G (n.61-5893C>G)
c.442-5893C>G (n.442-5893C>G)
2g.233761141C>TCA351068770UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5893C>T (n.856-5893C>T)
c.868-5893C>T (n.868-5893C>T)
c.862-5893C>T (n.862-5893C>T)
c.854C>T (p.Pro285Leu)
c.61-5893C>T (n.61-5893C>T)
c.442-5893C>T (n.442-5893C>T)
2g.233761142A>CCA431960950UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5892A>C (n.856-5892A>C)
c.868-5892A>C (n.868-5892A>C)
c.862-5892A>C (n.862-5892A>C)
c.855A>C (p.Pro285=)
c.61-5892A>C (n.61-5892A>C)
c.442-5892A>C (n.442-5892A>C)
2g.233761142A>GCA431960947UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5892A>G (n.856-5892A>G)
c.868-5892A>G (n.868-5892A>G)
c.862-5892A>G (n.862-5892A>G)
c.855A>G (p.Pro285=)
c.61-5892A>G (n.61-5892A>G)
c.442-5892A>G (n.442-5892A>G)
 gnomAD v4
2g.233761142A>TCA431960948UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5892A>T (n.856-5892A>T)
c.868-5892A>T (n.868-5892A>T)
c.862-5892A>T (n.862-5892A>T)
c.855A>T (p.Pro285=)
c.61-5892A>T (n.61-5892A>T)
c.442-5892A>T (n.442-5892A>T)
2g.233761142_233761143insAACACACCA2754693305UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5892_856-5891insAACACAC (n.856-5892_856-5891insAACACAC)
c.868-5892_868-5891insAACACAC (n.868-5892_868-5891insAACACAC)
c.862-5892_862-5891insAACACAC (n.862-5892_862-5891insAACACAC)
c.855_856insAACACAC (p.Leu286AsnfsTer8)
c.61-5892_61-5891insAACACAC (n.61-5892_61-5891insAACACAC)
c.442-5892_442-5891insAACACAC (n.442-5892_442-5891insAACACAC)
2g.233761143C>ACA351068773UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5891C>A (n.856-5891C>A)
c.868-5891C>A (n.868-5891C>A)
c.862-5891C>A (n.862-5891C>A)
c.856C>A (p.Leu286Ile)
c.61-5891C>A (n.61-5891C>A)
c.442-5891C>A (n.442-5891C>A)
2g.233761143C>GCA351068775UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5891C>G (n.856-5891C>G)
c.868-5891C>G (n.868-5891C>G)
c.862-5891C>G (n.862-5891C>G)
c.856C>G (p.Leu286Val)
c.61-5891C>G (n.61-5891C>G)
c.442-5891C>G (n.442-5891C>G)
2g.233761143C>TCA431960953UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5891C>T (n.856-5891C>T)
c.868-5891C>T (n.868-5891C>T)
c.862-5891C>T (n.862-5891C>T)
c.856C>T (p.Leu286=)
c.61-5891C>T (n.61-5891C>T)
c.442-5891C>T (n.442-5891C>T)
 gnomAD v4
2g.233761144T>ACA351068778UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5890T>A (n.856-5890T>A)
c.868-5890T>A (n.868-5890T>A)
c.862-5890T>A (n.862-5890T>A)
c.857T>A (p.Leu286Gln)
c.61-5890T>A (n.61-5890T>A)
c.442-5890T>A (n.442-5890T>A)
 gnomAD v4
2g.233761144T>CCA351068781UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5890T>C (n.856-5890T>C)
c.868-5890T>C (n.868-5890T>C)
c.862-5890T>C (n.862-5890T>C)
c.857T>C (p.Leu286Pro)
c.61-5890T>C (n.61-5890T>C)
c.442-5890T>C (n.442-5890T>C)
2g.233761144T>GCA351068782UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5890T>G (n.856-5890T>G)
c.868-5890T>G (n.868-5890T>G)
c.862-5890T>G (n.862-5890T>G)
c.857T>G (p.Leu286Arg)
c.61-5890T>G (n.61-5890T>G)
c.442-5890T>G (n.442-5890T>G)
2g.233761145A>CCA431960955UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5889A>C (n.856-5889A>C)
c.868-5889A>C (n.868-5889A>C)
c.862-5889A>C (n.862-5889A>C)
c.858A>C (p.Leu286=)
c.61-5889A>C (n.61-5889A>C)
c.442-5889A>C (n.442-5889A>C)
2g.233761145A>GCA431960954UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5889A>G (n.856-5889A>G)
c.868-5889A>G (n.868-5889A>G)
c.862-5889A>G (n.862-5889A>G)
c.858A>G (p.Leu286=)
c.61-5889A>G (n.61-5889A>G)
c.442-5889A>G (n.442-5889A>G)
2g.233761145A>TCA431960956UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5889A>T (n.856-5889A>T)
c.868-5889A>T (n.868-5889A>T)
c.862-5889A>T (n.862-5889A>T)
c.858A>T (p.Leu286=)
c.61-5889A>T (n.61-5889A>T)
c.442-5889A>T (n.442-5889A>T)
 gnomAD v4
2g.233761146T>ACA351068786UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5888T>A (n.856-5888T>A)
c.868-5888T>A (n.868-5888T>A)
c.862-5888T>A (n.862-5888T>A)
c.859T>A (p.Ser287Thr)
c.61-5888T>A (n.61-5888T>A)
c.442-5888T>A (n.442-5888T>A)
 gnomAD v4
2g.233761146T>CCA351068789UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5888T>C (n.856-5888T>C)
c.868-5888T>C (n.868-5888T>C)
c.862-5888T>C (n.862-5888T>C)
c.859T>C (p.Ser287Pro)
c.61-5888T>C (n.61-5888T>C)
c.442-5888T>C (n.442-5888T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233761146T>GCA351068791UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5888T>G (n.856-5888T>G)
c.868-5888T>G (n.868-5888T>G)
c.862-5888T>G (n.862-5888T>G)
c.859T>G (p.Ser287Ala)
c.61-5888T>G (n.61-5888T>G)
c.442-5888T>G (n.442-5888T>G)
2g.233761146T=CA1335890009UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5888T= (n.856-5888T=)
c.868-5888T= (n.868-5888T=)
c.862-5888T= (n.862-5888T=)
c.859T= (p.Ser287=)
c.61-5888T= (n.61-5888T=)
c.442-5888T= (n.442-5888T=)
2g.233761147C>ACA351068801UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5887C>A (n.856-5887C>A)
c.868-5887C>A (n.868-5887C>A)
c.862-5887C>A (n.862-5887C>A)
c.860C>A (p.Ser287Tyr)
c.61-5887C>A (n.61-5887C>A)
c.442-5887C>A (n.442-5887C>A)
 gnomAD v4
2g.233761147C=CA1335890011UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5887C= (n.856-5887C=)
c.868-5887C= (n.868-5887C=)
c.862-5887C= (n.862-5887C=)
c.860C= (p.Ser287=)
c.61-5887C= (n.61-5887C=)
c.442-5887C= (n.442-5887C=)
2g.233761147C>GCA351068798UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5887C>G (n.856-5887C>G)
c.868-5887C>G (n.868-5887C>G)
c.862-5887C>G (n.862-5887C>G)
c.860C>G (p.Ser287Cys)
c.61-5887C>G (n.61-5887C>G)
c.442-5887C>G (n.442-5887C>G)
2g.233761147C>TCA351068795UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5887C>T (n.856-5887C>T)
c.868-5887C>T (n.868-5887C>T)
c.862-5887C>T (n.862-5887C>T)
c.860C>T (p.Ser287Phe)
c.61-5887C>T (n.61-5887C>T)
c.442-5887C>T (n.442-5887C>T)
 dbSNP gnomAD v4
2g.233761148C>ACA431960960UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5886C>A (n.856-5886C>A)
c.868-5886C>A (n.868-5886C>A)
c.862-5886C>A (n.862-5886C>A)
c.861C>A (p.Ser287=)
c.61-5886C>A (n.61-5886C>A)
c.442-5886C>A (n.442-5886C>A)
2g.233761148C>GCA431960961UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5886C>G (n.856-5886C>G)
c.868-5886C>G (n.868-5886C>G)
c.862-5886C>G (n.862-5886C>G)
c.861C>G (p.Ser287=)
c.61-5886C>G (n.61-5886C>G)
c.442-5886C>G (n.442-5886C>G)
 gnomAD v4
2g.233761148C>TCA431960962UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5886C>T (n.856-5886C>T)
c.868-5886C>T (n.868-5886C>T)
c.862-5886C>T (n.862-5886C>T)
c.861C>T (p.Ser287=)
c.61-5886C>T (n.61-5886C>T)
c.442-5886C>T (n.442-5886C>T)
 gnomAD v4 COSMIC
2g.233761149C>ACA351068804UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5885C>A (n.856-5885C>A)
c.868-5885C>A (n.868-5885C>A)
c.862-5885C>A (n.862-5885C>A)
c.862C>A (p.Gln288Lys)
c.61-5885C>A (n.61-5885C>A)
c.442-5885C>A (n.442-5885C>A)
 dbSNP gnomAD v4
2g.233761149C=CA1335890013UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5885C= (n.856-5885C=)
c.868-5885C= (n.868-5885C=)
c.862-5885C= (n.862-5885C=)
c.862C= (p.Gln288=)
c.61-5885C= (n.61-5885C=)
c.442-5885C= (n.442-5885C=)
2g.233761149C>GCA351068810UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5885C>G (n.856-5885C>G)
c.868-5885C>G (n.868-5885C>G)
c.862-5885C>G (n.862-5885C>G)
c.862C>G (p.Gln288Glu)
c.61-5885C>G (n.61-5885C>G)
c.442-5885C>G (n.442-5885C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.233761149C>TCA351068807UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5885C>T (n.856-5885C>T)
c.868-5885C>T (n.868-5885C>T)
c.862-5885C>T (n.862-5885C>T)
c.862C>T (p.Gln288Ter)
c.61-5885C>T (n.61-5885C>T)
c.442-5885C>T (n.442-5885C>T)
2g.233761150A=CA1335890016UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5884A= (n.856-5884A=)
c.868-5884A= (n.868-5884A=)
c.862-5884A= (n.862-5884A=)
c.863A= (p.Gln288=)
c.61-5884A= (n.61-5884A=)
c.442-5884A= (n.442-5884A=)
2g.233761150A>CCA351068814UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5884A>C (n.856-5884A>C)
c.868-5884A>C (n.868-5884A>C)
c.862-5884A>C (n.862-5884A>C)
c.863A>C (p.Gln288Pro)
c.61-5884A>C (n.61-5884A>C)
c.442-5884A>C (n.442-5884A>C)
2g.233761150A>GCA351068817UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5884A>G (n.856-5884A>G)
c.868-5884A>G (n.868-5884A>G)
c.862-5884A>G (n.862-5884A>G)
c.863A>G (p.Gln288Arg)
c.61-5884A>G (n.61-5884A>G)
c.442-5884A>G (n.442-5884A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.233761150A>TCA351068820UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5884A>T (n.856-5884A>T)
c.868-5884A>T (n.868-5884A>T)
c.862-5884A>T (n.862-5884A>T)
c.863A>T (p.Gln288Leu)
c.61-5884A>T (n.61-5884A>T)
c.442-5884A>T (n.442-5884A>T)
2g.233761151G>ACA2179900UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5883G>A (n.856-5883G>A)
c.868-5883G>A (n.868-5883G>A)
c.862-5883G>A (n.862-5883G>A)
c.864G>A (p.Gln288=)
c.61-5883G>A (n.61-5883G>A)
c.442-5883G>A (n.442-5883G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761151G>CCA351068827UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5883G>C (n.856-5883G>C)
c.868-5883G>C (n.868-5883G>C)
c.862-5883G>C (n.862-5883G>C)
c.864G>C (p.Gln288His)
c.61-5883G>C (n.61-5883G>C)
c.442-5883G>C (n.442-5883G>C)
2g.233761151G=CA1335890018UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5883G= (n.856-5883G=)
c.868-5883G= (n.868-5883G=)
c.862-5883G= (n.862-5883G=)
c.864G= (p.Gln288=)
c.61-5883G= (n.61-5883G=)
c.442-5883G= (n.442-5883G=)
2g.233761151G>TCA351068828UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5883G>T (n.856-5883G>T)
c.868-5883G>T (n.868-5883G>T)
c.862-5883G>T (n.862-5883G>T)
c.864G>T (p.Gln288His)
c.61-5883G>T (n.61-5883G>T)
c.442-5883G>T (n.442-5883G>T)
2g.233761152G>ACA351068830UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5882G>A (n.856-5882G>A)
c.868-5882G>A (n.868-5882G>A)
c.862-5882G>A (n.862-5882G>A)
c.864+1G>A (n.864+1G>A)
c.61-5882G>A (n.61-5882G>A)
c.442-5882G>A (n.442-5882G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.233761152G>CCA122073UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5882G>C (n.856-5882G>C)
c.868-5882G>C (n.868-5882G>C)
c.862-5882G>C (n.862-5882G>C)
c.864+1G>C (n.864+1G>C)
c.61-5882G>C (n.61-5882G>C)
c.442-5882G>C (n.442-5882G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233761152G=CA1335890025UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5882G= (n.856-5882G=)
c.868-5882G= (n.868-5882G=)
c.862-5882G= (n.862-5882G=)
c.864+1G= (n.864+1G=)
c.61-5882G= (n.61-5882G=)
c.442-5882G= (n.442-5882G=)
2g.233761152G>TCA351068834UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5882G>T (n.856-5882G>T)
c.868-5882G>T (n.868-5882G>T)
c.862-5882G>T (n.862-5882G>T)
c.864+1G>T (n.864+1G>T)
c.61-5882G>T (n.61-5882G>T)
c.442-5882G>T (n.442-5882G>T)
2g.233761153T>ACA351068837UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5881T>A (n.856-5881T>A)
c.868-5881T>A (n.868-5881T>A)
c.862-5881T>A (n.862-5881T>A)
c.864+2T>A (n.864+2T>A)
c.61-5881T>A (n.61-5881T>A)
c.442-5881T>A (n.442-5881T>A)
2g.233761153T>CCA2179901UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5881T>C (n.856-5881T>C)
c.868-5881T>C (n.868-5881T>C)
c.862-5881T>C (n.862-5881T>C)
c.864+2T>C (n.864+2T>C)
c.61-5881T>C (n.61-5881T>C)
c.442-5881T>C (n.442-5881T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761153T>GCA351068842UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5881T>G (n.856-5881T>G)
c.868-5881T>G (n.868-5881T>G)
c.862-5881T>G (n.862-5881T>G)
c.864+2T>G (n.864+2T>G)
c.61-5881T>G (n.61-5881T>G)
c.442-5881T>G (n.442-5881T>G)
2g.233761153T=CA1335890028UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5881T= (n.856-5881T=)
c.868-5881T= (n.868-5881T=)
c.862-5881T= (n.862-5881T=)
c.864+2T= (n.864+2T=)
c.61-5881T= (n.61-5881T=)
c.442-5881T= (n.442-5881T=)
2g.233761154G>ACA540311610UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5880G>A (n.856-5880G>A)
c.868-5880G>A (n.868-5880G>A)
c.862-5880G>A (n.862-5880G>A)
c.864+3G>A (n.864+3G>A)
c.61-5880G>A (n.61-5880G>A)
c.442-5880G>A (n.442-5880G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.233761154G>CCA2663717784UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5880G>C (n.856-5880G>C)
c.868-5880G>C (n.868-5880G>C)
c.862-5880G>C (n.862-5880G>C)
c.864+3G>C (n.864+3G>C)
c.61-5880G>C (n.61-5880G>C)
c.442-5880G>C (n.442-5880G>C)
 gnomAD v4
2g.233761154G=CA1335890035UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5880G= (n.856-5880G=)
c.868-5880G= (n.868-5880G=)
c.862-5880G= (n.862-5880G=)
c.864+3G= (n.864+3G=)
c.61-5880G= (n.61-5880G=)
c.442-5880G= (n.442-5880G=)
2g.233761156G>ACA1335890038UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5878G>A (n.856-5878G>A)
c.868-5878G>A (n.868-5878G>A)
c.862-5878G>A (n.862-5878G>A)
c.864+5G>A (n.864+5G>A)
c.61-5878G>A (n.61-5878G>A)
c.442-5878G>A (n.442-5878G>A)
 dbSNP
2g.233761156G=CA1335890037UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5878G= (n.856-5878G=)
c.868-5878G= (n.868-5878G=)
c.862-5878G= (n.862-5878G=)
c.864+5G= (n.864+5G=)
c.61-5878G= (n.61-5878G=)
c.442-5878G= (n.442-5878G=)
2g.233761156G>TCA2179902UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5878G>T (n.856-5878G>T)
c.868-5878G>T (n.868-5878G>T)
c.862-5878G>T (n.862-5878G>T)
c.864+5G>T (n.864+5G>T)
c.61-5878G>T (n.61-5878G>T)
c.442-5878G>T (n.442-5878G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761158A>GCA2577284384UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5876A>G (n.856-5876A>G)
c.868-5876A>G (n.868-5876A>G)
c.862-5876A>G (n.862-5876A>G)
c.864+7A>G (n.864+7A>G)
c.61-5876A>G (n.61-5876A>G)
c.442-5876A>G (n.442-5876A>G)
2g.233761159T>CCA2663717785UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5875T>C (n.856-5875T>C)
c.868-5875T>C (n.868-5875T>C)
c.862-5875T>C (n.862-5875T>C)
c.864+8T>C (n.864+8T>C)
c.61-5875T>C (n.61-5875T>C)
c.442-5875T>C (n.442-5875T>C)
 gnomAD v4
2g.233761160T>CCA766267824UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5874T>C (n.856-5874T>C)
c.868-5874T>C (n.868-5874T>C)
c.862-5874T>C (n.862-5874T>C)
c.864+9T>C (n.864+9T>C)
c.61-5874T>C (n.61-5874T>C)
c.442-5874T>C (n.442-5874T>C)
 dbSNP gnomAD v4
2g.233761160T=CA1335890040UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5874T= (n.856-5874T=)
c.868-5874T= (n.868-5874T=)
c.862-5874T= (n.862-5874T=)
c.864+9T= (n.864+9T=)
c.61-5874T= (n.61-5874T=)
c.442-5874T= (n.442-5874T=)
2g.233761161G>ACA540069957UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5873G>A (n.856-5873G>A)
c.868-5873G>A (n.868-5873G>A)
c.862-5873G>A (n.862-5873G>A)
c.864+10G>A (n.864+10G>A)
c.61-5873G>A (n.61-5873G>A)
c.442-5873G>A (n.442-5873G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233761161G=CA1335890042UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5873G= (n.856-5873G=)
c.868-5873G= (n.868-5873G=)
c.862-5873G= (n.862-5873G=)
c.864+10G= (n.864+10G=)
c.61-5873G= (n.61-5873G=)
c.442-5873G= (n.442-5873G=)
2g.233761161G>TCA645531508UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5873G>T (n.856-5873G>T)
c.868-5873G>T (n.868-5873G>T)
c.862-5873G>T (n.862-5873G>T)
c.864+10G>T (n.864+10G>T)
c.61-5873G>T (n.61-5873G>T)
c.442-5873G>T (n.442-5873G>T)
 COSMIC COSMIC
2g.233761164G>CCA2663717793UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5870G>C (n.856-5870G>C)
c.868-5870G>C (n.868-5870G>C)
c.862-5870G>C (n.862-5870G>C)
c.864+13G>C (n.864+13G>C)
c.61-5870G>C (n.61-5870G>C)
c.442-5870G>C (n.442-5870G>C)
 gnomAD v4
2g.233761165T>ACA540069958UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5869T>A (n.856-5869T>A)
c.868-5869T>A (n.868-5869T>A)
c.862-5869T>A (n.862-5869T>A)
c.864+14T>A (n.864+14T>A)
c.61-5869T>A (n.61-5869T>A)
c.442-5869T>A (n.442-5869T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.233761165T=CA1335890046UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5869T= (n.856-5869T=)
c.868-5869T= (n.868-5869T=)
c.862-5869T= (n.862-5869T=)
c.864+14T= (n.864+14T=)
c.61-5869T= (n.61-5869T=)
c.442-5869T= (n.442-5869T=)
2g.233761167G>ACA2663717794UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5867G>A (n.856-5867G>A)
c.868-5867G>A (n.868-5867G>A)
c.862-5867G>A (n.862-5867G>A)
c.864+16G>A (n.864+16G>A)
c.61-5867G>A (n.61-5867G>A)
c.442-5867G>A (n.442-5867G>A)
 gnomAD v4
2g.233761167G>CCA2663717796UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5867G>C (n.856-5867G>C)
c.868-5867G>C (n.868-5867G>C)
c.862-5867G>C (n.862-5867G>C)
c.864+16G>C (n.864+16G>C)
c.61-5867G>C (n.61-5867G>C)
c.442-5867G>C (n.442-5867G>C)
 gnomAD v4
2g.233761168G>ACA2663717798UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5866G>A (n.856-5866G>A)
c.868-5866G>A (n.868-5866G>A)
c.862-5866G>A (n.862-5866G>A)
c.864+17G>A (n.864+17G>A)
c.61-5866G>A (n.61-5866G>A)
c.442-5866G>A (n.442-5866G>A)
 gnomAD v4
2g.233761168G=CA1335890048UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5866G= (n.856-5866G=)
c.868-5866G= (n.868-5866G=)
c.862-5866G= (n.862-5866G=)
c.864+17G= (n.864+17G=)
c.61-5866G= (n.61-5866G=)
c.442-5866G= (n.442-5866G=)
2g.233761168G>TCA2179903UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5866G>T (n.856-5866G>T)
c.868-5866G>T (n.868-5866G>T)
c.862-5866G>T (n.862-5866G>T)
c.864+17G>T (n.864+17G>T)
c.61-5866G>T (n.61-5866G>T)
c.442-5866G>T (n.442-5866G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761169A>CCA2577284385UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5865A>C (n.856-5865A>C)
c.868-5865A>C (n.868-5865A>C)
c.862-5865A>C (n.862-5865A>C)
c.864+18A>C (n.864+18A>C)
c.61-5865A>C (n.61-5865A>C)
c.442-5865A>C (n.442-5865A>C)
 gnomAD v4
2g.233761173T>CCA2179905UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5861T>C (n.856-5861T>C)
c.868-5861T>C (n.868-5861T>C)
c.862-5861T>C (n.862-5861T>C)
c.864+22T>C (n.864+22T>C)
c.61-5861T>C (n.61-5861T>C)
c.442-5861T>C (n.442-5861T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233761173T>GCA2179904UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5861T>G (n.856-5861T>G)
c.868-5861T>G (n.868-5861T>G)
c.862-5861T>G (n.862-5861T>G)
c.864+22T>G (n.864+22T>G)
c.61-5861T>G (n.61-5861T>G)
c.442-5861T>G (n.442-5861T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233761173T=CA1335890051UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5861T= (n.856-5861T=)
c.868-5861T= (n.868-5861T=)
c.862-5861T= (n.862-5861T=)
c.864+22T= (n.864+22T=)
c.61-5861T= (n.61-5861T=)
c.442-5861T= (n.442-5861T=)
2g.233761175A=CA1335890054UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5859A= (n.856-5859A=)
c.868-5859A= (n.868-5859A=)
c.862-5859A= (n.862-5859A=)
c.864+24A= (n.864+24A=)
c.61-5859A= (n.61-5859A=)
c.442-5859A= (n.442-5859A=)
2g.233761175A>GCA766267838UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5859A>G (n.856-5859A>G)
c.868-5859A>G (n.868-5859A>G)
c.862-5859A>G (n.862-5859A>G)
c.864+24A>G (n.864+24A>G)
c.61-5859A>G (n.61-5859A>G)
c.442-5859A>G (n.442-5859A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.233761175_233761179delinsACATGCA1335890055UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-5859_856-5855delinsACATG (n.856-5859_856-5855delinsACATG)
c.868-5859_868-5855delinsACATG (n.868-5859_868-5855delinsACATG)
c.862-5859_862-5855delinsACATG (n.862-5859_862-5855delinsACATG)
c.864+24_864+28delinsACATG (n.864+24_864+28delinsACATG)
c.61-5859_61-5855delinsACATG (n.61-5859_61-5855delinsACATG)
c.442-5859_442-5855delinsACATG (n.442-5859_442-5855delinsACATG)

Number of alleles fetched