Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233672611dupCA2754690874UGT1A10,UGT1A8,UGT1A9c.855+35234dup (n.855+35234dup)
c.855+54049dup (n.855+54049dup)
c.677dup (p.Asn226LysfsTer8)
2g.233672611delCA431856434UGT1A10,UGT1A8,UGT1A9c.855+35234del (n.855+35234del)
c.855+54049del (n.855+54049del)
c.677del (p.Asn226MetfsTer3)
2g.233672611A>CCA351080404UGT1A10,UGT1A8,UGT1A9c.855+35234A>C (n.855+35234A>C)
c.855+54049A>C (n.855+54049A>C)
c.677A>C (p.Asn226Thr)
2g.233672611A>GCA351080409UGT1A10,UGT1A8,UGT1A9c.855+35234A>G (n.855+35234A>G)
c.855+54049A>G (n.855+54049A>G)
c.677A>G (p.Asn226Ser)
2g.233672611A>TCA351080407UGT1A10,UGT1A8,UGT1A9c.855+35234A>T (n.855+35234A>T)
c.855+54049A>T (n.855+54049A>T)
c.677A>T (p.Asn226Ile)
2g.233672612T>ACA351080412UGT1A10,UGT1A8,UGT1A9c.855+35235T>A (n.855+35235T>A)
c.855+54050T>A (n.855+54050T>A)
c.678T>A (p.Asn226Lys)
2g.233672612T>CCA431856446UGT1A10,UGT1A8,UGT1A9c.855+35235T>C (n.855+35235T>C)
c.855+54050T>C (n.855+54050T>C)
c.678T>C (p.Asn226=)
 dbSNP gnomAD v2 gnomAD v4
2g.233672612T>GCA351080415UGT1A10,UGT1A8,UGT1A9c.855+35235T>G (n.855+35235T>G)
c.855+54050T>G (n.855+54050T>G)
c.678T>G (p.Asn226Lys)
2g.233672612T=CA1335852575UGT1A10,UGT1A8,UGT1A9c.855+35235T= (n.855+35235T=)
c.855+54050T= (n.855+54050T=)
c.678T= (p.Asn226=)
2g.233672613G>ACA351080425UGT1A10,UGT1A8,UGT1A9c.855+35236G>A (n.855+35236G>A)
c.855+54051G>A (n.855+54051G>A)
c.679G>A (p.Ala227Thr)
2g.233672613G>CCA351080427UGT1A10,UGT1A8,UGT1A9c.855+35236G>C (n.855+35236G>C)
c.855+54051G>C (n.855+54051G>C)
c.679G>C (p.Ala227Pro)
2g.233672613G>TCA351080431UGT1A10,UGT1A8,UGT1A9c.855+35236G>T (n.855+35236G>T)
c.855+54051G>T (n.855+54051G>T)
c.679G>T (p.Ala227Ser)
2g.233672613_233672614delinsGCCA1335852578UGT1A10,UGT1A8,UGT1A9c.855+35236_855+35237delinsGC (n.855+35236_855+35237delinsGC)
c.855+54051_855+54052delinsGC (n.855+54051_855+54052delinsGC)
c.679_680delinsGC (p.Ala227=)
2g.233672614C>ACA351080433UGT1A10,UGT1A8,UGT1A9c.855+35237C>A (n.855+35237C>A)
c.855+54052C>A (n.855+54052C>A)
c.680C>A (p.Ala227Asp)
2g.233672614C=CA1335852582UGT1A10,UGT1A8,UGT1A9c.855+35237C= (n.855+35237C=)
c.855+54052C= (n.855+54052C=)
c.680C= (p.Ala227=)
2g.233672614C>GCA351080435UGT1A10,UGT1A8,UGT1A9c.855+35237C>G (n.855+35237C>G)
c.855+54052C>G (n.855+54052C>G)
c.680C>G (p.Ala227Gly)
2g.233672614C>TCA351080438UGT1A10,UGT1A8,UGT1A9c.855+35237C>T (n.855+35237C>T)
c.855+54052C>T (n.855+54052C>T)
c.680C>T (p.Ala227Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.233672616delCA540311292UGT1A10,UGT1A8,UGT1A9c.855+35239del (n.855+35239del)
c.855+54054del (n.855+54054del)
c.682del (p.Leu228Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233672615C>ACA431856452UGT1A10,UGT1A8,UGT1A9c.855+35238C>A (n.855+35238C>A)
c.855+54053C>A (n.855+54053C>A)
c.681C>A (p.Ala227=)
 gnomAD v4 COSMIC
2g.233672615C=CA1335852589UGT1A10,UGT1A8,UGT1A9c.855+35238C= (n.855+35238C=)
c.855+54053C= (n.855+54053C=)
c.681C= (p.Ala227=)
2g.233672615C>GCA431856455UGT1A10,UGT1A8,UGT1A9c.855+35238C>G (n.855+35238C>G)
c.855+54053C>G (n.855+54053C>G)
c.681C>G (p.Ala227=)
2g.233672615C>TCA2178101UGT1A10,UGT1A8,UGT1A9c.855+35238C>T (n.855+35238C>T)
c.855+54053C>T (n.855+54053C>T)
c.681C>T (p.Ala227=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.233672616C>ACA351080445UGT1A10,UGT1A8,UGT1A9c.855+35239C>A (n.855+35239C>A)
c.855+54054C>A (n.855+54054C>A)
c.682C>A (p.Leu228Ile)
2g.233672616C=CA1335852595UGT1A10,UGT1A8,UGT1A9c.855+35239C= (n.855+35239C=)
c.855+54054C= (n.855+54054C=)
c.682C= (p.Leu228=)
2g.233672616C>GCA351080448UGT1A10,UGT1A8,UGT1A9c.855+35239C>G (n.855+35239C>G)
c.855+54054C>G (n.855+54054C>G)
c.682C>G (p.Leu228Val)
 dbSNP
2g.233672616C>TCA431856457UGT1A10,UGT1A8,UGT1A9c.855+35239C>T (n.855+35239C>T)
c.855+54054C>T (n.855+54054C>T)
c.682C>T (p.Leu228=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233672617T>ACA351080456UGT1A10,UGT1A8,UGT1A9c.855+35240T>A (n.855+35240T>A)
c.855+54055T>A (n.855+54055T>A)
c.683T>A (p.Leu228Gln)
2g.233672617T>CCA351080451UGT1A10,UGT1A8,UGT1A9c.855+35240T>C (n.855+35240T>C)
c.855+54055T>C (n.855+54055T>C)
c.683T>C (p.Leu228Pro)
2g.233672617T>GCA351080453UGT1A10,UGT1A8,UGT1A9c.855+35240T>G (n.855+35240T>G)
c.855+54055T>G (n.855+54055T>G)
c.683T>G (p.Leu228Arg)
2g.233672618A=CA1335852598UGT1A10,UGT1A8,UGT1A9c.855+35241A= (n.855+35241A=)
c.855+54056A= (n.855+54056A=)
c.684A= (p.Leu228=)
2g.233672618A>CCA431856461UGT1A10,UGT1A8,UGT1A9c.855+35241A>C (n.855+35241A>C)
c.855+54056A>C (n.855+54056A>C)
c.684A>C (p.Leu228=)
2g.233672618A>GCA2178102UGT1A10,UGT1A8,UGT1A9c.855+35241A>G (n.855+35241A>G)
c.855+54056A>G (n.855+54056A>G)
c.684A>G (p.Leu228=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233672618A>TCA431856462UGT1A10,UGT1A8,UGT1A9c.855+35241A>T (n.855+35241A>T)
c.855+54056A>T (n.855+54056A>T)
c.684A>T (p.Leu228=)
2g.233672619G>ACA351080459UGT1A10,UGT1A8,UGT1A9c.855+35242G>A (n.855+35242G>A)
c.855+54057G>A (n.855+54057G>A)
c.685G>A (p.Glu229Lys)
2g.233672619G>CCA351080461UGT1A10,UGT1A8,UGT1A9c.855+35242G>C (n.855+35242G>C)
c.855+54057G>C (n.855+54057G>C)
c.685G>C (p.Glu229Gln)
2g.233672619G>TCA351080462UGT1A10,UGT1A8,UGT1A9c.855+35242G>T (n.855+35242G>T)
c.855+54057G>T (n.855+54057G>T)
c.685G>T (p.Glu229Ter)
2g.233672620A>CCA351080464UGT1A10,UGT1A8,UGT1A9c.855+35243A>C (n.855+35243A>C)
c.855+54058A>C (n.855+54058A>C)
c.686A>C (p.Glu229Ala)
2g.233672620A>GCA351080466UGT1A10,UGT1A8,UGT1A9c.855+35243A>G (n.855+35243A>G)
c.855+54058A>G (n.855+54058A>G)
c.686A>G (p.Glu229Gly)
 gnomAD v4
2g.233672620A>TCA351080467UGT1A10,UGT1A8,UGT1A9c.855+35243A>T (n.855+35243A>T)
c.855+54058A>T (n.855+54058A>T)
c.686A>T (p.Glu229Val)
2g.233672621A=CA1335852601UGT1A10,UGT1A8,UGT1A9c.855+35244A= (n.855+35244A=)
c.855+54059A= (n.855+54059A=)
c.687A= (p.Glu229=)
2g.233672621A>CCA351080470UGT1A10,UGT1A8,UGT1A9c.855+35244A>C (n.855+35244A>C)
c.855+54059A>C (n.855+54059A>C)
c.687A>C (p.Glu229Asp)
 gnomAD v4
2g.233672621A>GCA67608656UGT1A10,UGT1A8,UGT1A9c.855+35244A>G (n.855+35244A>G)
c.855+54059A>G (n.855+54059A>G)
c.687A>G (p.Glu229=)
 dbSNP gnomAD v4
2g.233672621A>TCA351080476UGT1A10,UGT1A8,UGT1A9c.855+35244A>T (n.855+35244A>T)
c.855+54059A>T (n.855+54059A>T)
c.687A>T (p.Glu229Asp)
2g.233672622A>CCA351080482UGT1A10,UGT1A8,UGT1A9c.855+35245A>C (n.855+35245A>C)
c.855+54060A>C (n.855+54060A>C)
c.688A>C (p.Ile230Leu)
2g.233672622A>GCA351080484UGT1A10,UGT1A8,UGT1A9c.855+35245A>G (n.855+35245A>G)
c.855+54060A>G (n.855+54060A>G)
c.688A>G (p.Ile230Val)
2g.233672622A>TCA351080480UGT1A10,UGT1A8,UGT1A9c.855+35245A>T (n.855+35245A>T)
c.855+54060A>T (n.855+54060A>T)
c.688A>T (p.Ile230Leu)
2g.233672623T>ACA351080485UGT1A10,UGT1A8,UGT1A9c.855+35246T>A (n.855+35246T>A)
c.855+54061T>A (n.855+54061T>A)
c.689T>A (p.Ile230Lys)
2g.233672623T>CCA351080487UGT1A10,UGT1A8,UGT1A9c.855+35246T>C (n.855+35246T>C)
c.855+54061T>C (n.855+54061T>C)
c.689T>C (p.Ile230Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.233672623T>GCA351080490UGT1A10,UGT1A8,UGT1A9c.855+35246T>G (n.855+35246T>G)
c.855+54061T>G (n.855+54061T>G)
c.689T>G (p.Ile230Arg)
2g.233672623T=CA1335852606UGT1A10,UGT1A8,UGT1A9c.855+35246T= (n.855+35246T=)
c.855+54061T= (n.855+54061T=)
c.689T= (p.Ile230=)

Number of alleles fetched