Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760567A=CA1335889221UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6467A= (n.856-6467A=)
c.868-6467A= (n.868-6467A=)
c.862-6467A= (n.862-6467A=)
c.280A= (p.Ser94=)
c.61-6467A= (n.61-6467A=)
c.442-6467A= (n.442-6467A=)
2g.233760567A>CCA351066321UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6467A>C (n.856-6467A>C)
c.868-6467A>C (n.868-6467A>C)
c.862-6467A>C (n.862-6467A>C)
c.280A>C (p.Ser94Arg)
c.61-6467A>C (n.61-6467A>C)
c.442-6467A>C (n.442-6467A>C)
2g.233760567A>GCA351066322UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6467A>G (n.856-6467A>G)
c.868-6467A>G (n.868-6467A>G)
c.862-6467A>G (n.862-6467A>G)
c.280A>G (p.Ser94Gly)
c.61-6467A>G (n.61-6467A>G)
c.442-6467A>G (n.442-6467A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.233760567A>TCA351066323UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6467A>T (n.856-6467A>T)
c.868-6467A>T (n.868-6467A>T)
c.862-6467A>T (n.862-6467A>T)
c.280A>T (p.Ser94Cys)
c.61-6467A>T (n.61-6467A>T)
c.442-6467A>T (n.442-6467A>T)
 dbSNP
2g.233760568G>ACA351066325UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6466G>A (n.856-6466G>A)
c.868-6466G>A (n.868-6466G>A)
c.862-6466G>A (n.862-6466G>A)
c.281G>A (p.Ser94Asn)
c.61-6466G>A (n.61-6466G>A)
c.442-6466G>A (n.442-6466G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.233760568G>CCA351066326UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6466G>C (n.856-6466G>C)
c.868-6466G>C (n.868-6466G>C)
c.862-6466G>C (n.862-6466G>C)
c.281G>C (p.Ser94Thr)
c.61-6466G>C (n.61-6466G>C)
c.442-6466G>C (n.442-6466G>C)
 dbSNP
2g.233760568G=CA1335889223UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6466G= (n.856-6466G=)
c.868-6466G= (n.868-6466G=)
c.862-6466G= (n.862-6466G=)
c.281G= (p.Ser94=)
c.61-6466G= (n.61-6466G=)
c.442-6466G= (n.442-6466G=)
2g.233760568G>TCA351066324UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6466G>T (n.856-6466G>T)
c.868-6466G>T (n.868-6466G>T)
c.862-6466G>T (n.862-6466G>T)
c.281G>T (p.Ser94Ile)
c.61-6466G>T (n.61-6466G>T)
c.442-6466G>T (n.442-6466G>T)
2g.233760569T>ACA351066327UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6465T>A (n.856-6465T>A)
c.868-6465T>A (n.868-6465T>A)
c.862-6465T>A (n.862-6465T>A)
c.282T>A (p.Ser94Arg)
c.61-6465T>A (n.61-6465T>A)
c.442-6465T>A (n.442-6465T>A)
 dbSNP
2g.233760569T>CCA2179801UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6465T>C (n.856-6465T>C)
c.868-6465T>C (n.868-6465T>C)
c.862-6465T>C (n.862-6465T>C)
c.282T>C (p.Ser94=)
c.61-6465T>C (n.61-6465T>C)
c.442-6465T>C (n.442-6465T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760569T>GCA351066328UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6465T>G (n.856-6465T>G)
c.868-6465T>G (n.868-6465T>G)
c.862-6465T>G (n.862-6465T>G)
c.282T>G (p.Ser94Arg)
c.61-6465T>G (n.61-6465T>G)
c.442-6465T>G (n.442-6465T>G)
2g.233760569T=CA1335889228UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6465T= (n.856-6465T=)
c.868-6465T= (n.868-6465T=)
c.862-6465T= (n.862-6465T=)
c.282T= (p.Ser94=)
c.61-6465T= (n.61-6465T=)
c.442-6465T= (n.442-6465T=)
2g.233760570C>ACA351066329UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6464C>A (n.856-6464C>A)
c.868-6464C>A (n.868-6464C>A)
c.862-6464C>A (n.862-6464C>A)
c.283C>A (p.Leu95Ile)
c.61-6464C>A (n.61-6464C>A)
c.442-6464C>A (n.442-6464C>A)
 dbSNP
2g.233760570C>GCA351066330UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6464C>G (n.856-6464C>G)
c.868-6464C>G (n.868-6464C>G)
c.862-6464C>G (n.862-6464C>G)
c.283C>G (p.Leu95Val)
c.61-6464C>G (n.61-6464C>G)
c.442-6464C>G (n.442-6464C>G)
 dbSNP
2g.233760570C>TCA351066331UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6464C>T (n.856-6464C>T)
c.868-6464C>T (n.868-6464C>T)
c.862-6464C>T (n.862-6464C>T)
c.283C>T (p.Leu95Phe)
c.61-6464C>T (n.61-6464C>T)
c.442-6464C>T (n.442-6464C>T)
2g.233760571T>ACA351066332UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6463T>A (n.856-6463T>A)
c.868-6463T>A (n.868-6463T>A)
c.862-6463T>A (n.862-6463T>A)
c.284T>A (p.Leu95His)
c.61-6463T>A (n.61-6463T>A)
c.442-6463T>A (n.442-6463T>A)
 dbSNP
2g.233760571T>CCA351066333UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6463T>C (n.856-6463T>C)
c.868-6463T>C (n.868-6463T>C)
c.862-6463T>C (n.862-6463T>C)
c.284T>C (p.Leu95Pro)
c.61-6463T>C (n.61-6463T>C)
c.442-6463T>C (n.442-6463T>C)
 dbSNP
2g.233760571T>GCA351066334UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6463T>G (n.856-6463T>G)
c.868-6463T>G (n.868-6463T>G)
c.862-6463T>G (n.862-6463T>G)
c.284T>G (p.Leu95Arg)
c.61-6463T>G (n.61-6463T>G)
c.442-6463T>G (n.442-6463T>G)
2g.233760572C>ACA431960260UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6462C>A (n.856-6462C>A)
c.868-6462C>A (n.868-6462C>A)
c.862-6462C>A (n.862-6462C>A)
c.285C>A (p.Leu95=)
c.61-6462C>A (n.61-6462C>A)
c.442-6462C>A (n.442-6462C>A)
 dbSNP
2g.233760572C=CA1335889229UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6462C= (n.856-6462C=)
c.868-6462C= (n.868-6462C=)
c.862-6462C= (n.862-6462C=)
c.285C= (p.Leu95=)
c.61-6462C= (n.61-6462C=)
c.442-6462C= (n.442-6462C=)
2g.233760572C>GCA431960262UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6462C>G (n.856-6462C>G)
c.868-6462C>G (n.868-6462C>G)
c.862-6462C>G (n.862-6462C>G)
c.285C>G (p.Leu95=)
c.61-6462C>G (n.61-6462C>G)
c.442-6462C>G (n.442-6462C>G)
 dbSNP
2g.233760572C>TCA431960261UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6462C>T (n.856-6462C>T)
c.868-6462C>T (n.868-6462C>T)
c.862-6462C>T (n.862-6462C>T)
c.285C>T (p.Leu95=)
c.61-6462C>T (n.61-6462C>T)
c.442-6462C>T (n.442-6462C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.233760573G>ACA351066335UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6461G>A (n.856-6461G>A)
c.868-6461G>A (n.868-6461G>A)
c.862-6461G>A (n.862-6461G>A)
c.286G>A (p.Gly96Arg)
c.61-6461G>A (n.61-6461G>A)
c.442-6461G>A (n.442-6461G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760573G>CCA351066336UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6461G>C (n.856-6461G>C)
c.868-6461G>C (n.868-6461G>C)
c.862-6461G>C (n.862-6461G>C)
c.286G>C (p.Gly96Arg)
c.61-6461G>C (n.61-6461G>C)
c.442-6461G>C (n.442-6461G>C)
 dbSNP gnomAD v4 COSMIC
2g.233760573G=CA1335889231UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6461G= (n.856-6461G=)
c.868-6461G= (n.868-6461G=)
c.862-6461G= (n.862-6461G=)
c.286G= (p.Gly96=)
c.61-6461G= (n.61-6461G=)
c.442-6461G= (n.442-6461G=)
2g.233760573G>TCA351066337UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6461G>T (n.856-6461G>T)
c.868-6461G>T (n.868-6461G>T)
c.862-6461G>T (n.862-6461G>T)
c.286G>T (p.Gly96Trp)
c.61-6461G>T (n.61-6461G>T)
c.442-6461G>T (n.442-6461G>T)
2g.233760574G>ACA351066340UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6460G>A (n.856-6460G>A)
c.868-6460G>A (n.868-6460G>A)
c.862-6460G>A (n.862-6460G>A)
c.287G>A (p.Gly96Glu)
c.61-6460G>A (n.61-6460G>A)
c.442-6460G>A (n.442-6460G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233760574G>CCA351066339UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6460G>C (n.856-6460G>C)
c.868-6460G>C (n.868-6460G>C)
c.862-6460G>C (n.862-6460G>C)
c.287G>C (p.Gly96Ala)
c.61-6460G>C (n.61-6460G>C)
c.442-6460G>C (n.442-6460G>C)
 dbSNP
2g.233760574G=CA1335889233UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6460G= (n.856-6460G=)
c.868-6460G= (n.868-6460G=)
c.862-6460G= (n.862-6460G=)
c.287G= (p.Gly96=)
c.61-6460G= (n.61-6460G=)
c.442-6460G= (n.442-6460G=)
2g.233760574G>TCA351066338UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6460G>T (n.856-6460G>T)
c.868-6460G>T (n.868-6460G>T)
c.862-6460G>T (n.862-6460G>T)
c.287G>T (p.Gly96Val)
c.61-6460G>T (n.61-6460G>T)
c.442-6460G>T (n.442-6460G>T)
 dbSNP
2g.233760575G>ACA2179802UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6459G>A (n.856-6459G>A)
c.868-6459G>A (n.868-6459G>A)
c.862-6459G>A (n.862-6459G>A)
c.288G>A (p.Gly96=)
c.61-6459G>A (n.61-6459G>A)
c.442-6459G>A (n.442-6459G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760575G>CCA431960267UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6459G>C (n.856-6459G>C)
c.868-6459G>C (n.868-6459G>C)
c.862-6459G>C (n.862-6459G>C)
c.288G>C (p.Gly96=)
c.61-6459G>C (n.61-6459G>C)
c.442-6459G>C (n.442-6459G>C)
 gnomAD v4
2g.233760575G=CA1335889237UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6459G= (n.856-6459G=)
c.868-6459G= (n.868-6459G=)
c.862-6459G= (n.862-6459G=)
c.288G= (p.Gly96=)
c.61-6459G= (n.61-6459G=)
c.442-6459G= (n.442-6459G=)
2g.233760575G>TCA431960269UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6459G>T (n.856-6459G>T)
c.868-6459G>T (n.868-6459G>T)
c.862-6459G>T (n.862-6459G>T)
c.288G>T (p.Gly96=)
c.61-6459G>T (n.61-6459G>T)
c.442-6459G>T (n.442-6459G>T)
2g.233760576C>ACA351066341UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6458C>A (n.856-6458C>A)
c.868-6458C>A (n.868-6458C>A)
c.862-6458C>A (n.862-6458C>A)
c.289C>A (p.His97Asn)
c.61-6458C>A (n.61-6458C>A)
c.442-6458C>A (n.442-6458C>A)
 dbSNP
2g.233760576C>GCA351066342UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6458C>G (n.856-6458C>G)
c.868-6458C>G (n.868-6458C>G)
c.862-6458C>G (n.862-6458C>G)
c.289C>G (p.His97Asp)
c.61-6458C>G (n.61-6458C>G)
c.442-6458C>G (n.442-6458C>G)
 dbSNP
2g.233760576C>TCA351066343UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6458C>T (n.856-6458C>T)
c.868-6458C>T (n.868-6458C>T)
c.862-6458C>T (n.862-6458C>T)
c.289C>T (p.His97Tyr)
c.61-6458C>T (n.61-6458C>T)
c.442-6458C>T (n.442-6458C>T)
 dbSNP
2g.233760577A=CA1335889240UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6457A= (n.856-6457A=)
c.868-6457A= (n.868-6457A=)
c.862-6457A= (n.862-6457A=)
c.290A= (p.His97=)
c.61-6457A= (n.61-6457A=)
c.442-6457A= (n.442-6457A=)
2g.233760577A>CCA351066344UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6457A>C (n.856-6457A>C)
c.868-6457A>C (n.868-6457A>C)
c.862-6457A>C (n.862-6457A>C)
c.290A>C (p.His97Pro)
c.61-6457A>C (n.61-6457A>C)
c.442-6457A>C (n.442-6457A>C)
2g.233760577A>GCA351066345UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6457A>G (n.856-6457A>G)
c.868-6457A>G (n.868-6457A>G)
c.862-6457A>G (n.862-6457A>G)
c.290A>G (p.His97Arg)
c.61-6457A>G (n.61-6457A>G)
c.442-6457A>G (n.442-6457A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760577A>TCA351066346UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6457A>T (n.856-6457A>T)
c.868-6457A>T (n.868-6457A>T)
c.862-6457A>T (n.862-6457A>T)
c.290A>T (p.His97Leu)
c.61-6457A>T (n.61-6457A>T)
c.442-6457A>T (n.442-6457A>T)
2g.233760579_233760581delCA2663717387UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6455_856-6453del (n.856-6455_856-6453del)
c.868-6455_868-6453del (n.868-6455_868-6453del)
c.862-6455_862-6453del (n.862-6455_862-6453del)
c.292_294del (p.Asn98del)
c.61-6455_61-6453del (n.61-6455_61-6453del)
c.442-6455_442-6453del (n.442-6455_442-6453del)
 gnomAD v4
2g.233760578T>ACA351066347UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6456T>A (n.856-6456T>A)
c.868-6456T>A (n.868-6456T>A)
c.862-6456T>A (n.862-6456T>A)
c.291T>A (p.His97Gln)
c.61-6456T>A (n.61-6456T>A)
c.442-6456T>A (n.442-6456T>A)
 dbSNP
2g.233760578T>CCA431960271UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6456T>C (n.856-6456T>C)
c.868-6456T>C (n.868-6456T>C)
c.862-6456T>C (n.862-6456T>C)
c.291T>C (p.His97=)
c.61-6456T>C (n.61-6456T>C)
c.442-6456T>C (n.442-6456T>C)
 dbSNP
2g.233760578T>GCA351066348UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6456T>G (n.856-6456T>G)
c.868-6456T>G (n.868-6456T>G)
c.862-6456T>G (n.862-6456T>G)
c.291T>G (p.His97Gln)
c.61-6456T>G (n.61-6456T>G)
c.442-6456T>G (n.442-6456T>G)
2g.233760579A>CCA351066349UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6455A>C (n.856-6455A>C)
c.868-6455A>C (n.868-6455A>C)
c.862-6455A>C (n.862-6455A>C)
c.292A>C (p.Asn98His)
c.61-6455A>C (n.61-6455A>C)
c.442-6455A>C (n.442-6455A>C)
2g.233760579A>GCA351066350UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6455A>G (n.856-6455A>G)
c.868-6455A>G (n.868-6455A>G)
c.862-6455A>G (n.862-6455A>G)
c.292A>G (p.Asn98Asp)
c.61-6455A>G (n.61-6455A>G)
c.442-6455A>G (n.442-6455A>G)
 dbSNP gnomAD v4
2g.233760579A>TCA351066351UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6455A>T (n.856-6455A>T)
c.868-6455A>T (n.868-6455A>T)
c.862-6455A>T (n.862-6455A>T)
c.292A>T (p.Asn98Tyr)
c.61-6455A>T (n.61-6455A>T)
c.442-6455A>T (n.442-6455A>T)
 gnomAD v4
2g.233760580A=CA1335889242UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6454A= (n.856-6454A=)
c.868-6454A= (n.868-6454A=)
c.862-6454A= (n.862-6454A=)
c.293A= (p.Asn98=)
c.61-6454A= (n.61-6454A=)
c.442-6454A= (n.442-6454A=)
2g.233760580A>CCA351066352UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6454A>C (n.856-6454A>C)
c.868-6454A>C (n.868-6454A>C)
c.862-6454A>C (n.862-6454A>C)
c.293A>C (p.Asn98Thr)
c.61-6454A>C (n.61-6454A>C)
c.442-6454A>C (n.442-6454A>C)
2g.233760580A>GCA351066354UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6454A>G (n.856-6454A>G)
c.868-6454A>G (n.868-6454A>G)
c.862-6454A>G (n.862-6454A>G)
c.293A>G (p.Asn98Ser)
c.61-6454A>G (n.61-6454A>G)
c.442-6454A>G (n.442-6454A>G)
 gnomAD v4
2g.233760580A>TCA351066353UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6454A>T (n.856-6454A>T)
c.868-6454A>T (n.868-6454A>T)
c.862-6454A>T (n.862-6454A>T)
c.293A>T (p.Asn98Ile)
c.61-6454A>T (n.61-6454A>T)
c.442-6454A>T (n.442-6454A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.233760581T>ACA351066355UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6453T>A (n.856-6453T>A)
c.868-6453T>A (n.868-6453T>A)
c.862-6453T>A (n.862-6453T>A)
c.294T>A (p.Asn98Lys)
c.61-6453T>A (n.61-6453T>A)
c.442-6453T>A (n.442-6453T>A)
 dbSNP
2g.233760581T>CCA2179803UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6453T>C (n.856-6453T>C)
c.868-6453T>C (n.868-6453T>C)
c.862-6453T>C (n.862-6453T>C)
c.294T>C (p.Asn98=)
c.61-6453T>C (n.61-6453T>C)
c.442-6453T>C (n.442-6453T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760581T>GCA351066356UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6453T>G (n.856-6453T>G)
c.868-6453T>G (n.868-6453T>G)
c.862-6453T>G (n.862-6453T>G)
c.294T>G (p.Asn98Lys)
c.61-6453T>G (n.61-6453T>G)
c.442-6453T>G (n.442-6453T>G)
2g.233760581T=CA1335889243UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6453T= (n.856-6453T=)
c.868-6453T= (n.868-6453T=)
c.862-6453T= (n.862-6453T=)
c.294T= (p.Asn98=)
c.61-6453T= (n.61-6453T=)
c.442-6453T= (n.442-6453T=)
2g.233760582G>ACA351066357UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6452G>A (n.856-6452G>A)
c.868-6452G>A (n.868-6452G>A)
c.862-6452G>A (n.862-6452G>A)
c.295G>A (p.Val99Ile)
c.61-6452G>A (n.61-6452G>A)
c.442-6452G>A (n.442-6452G>A)
2g.233760582G>CCA351066358UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6452G>C (n.856-6452G>C)
c.868-6452G>C (n.868-6452G>C)
c.862-6452G>C (n.862-6452G>C)
c.295G>C (p.Val99Leu)
c.61-6452G>C (n.61-6452G>C)
c.442-6452G>C (n.442-6452G>C)
2g.233760582G>TCA351066359UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6452G>T (n.856-6452G>T)
c.868-6452G>T (n.868-6452G>T)
c.862-6452G>T (n.862-6452G>T)
c.295G>T (p.Val99Phe)
c.61-6452G>T (n.61-6452G>T)
c.442-6452G>T (n.442-6452G>T)
2g.233760583T>ACA351066360UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6451T>A (n.856-6451T>A)
c.868-6451T>A (n.868-6451T>A)
c.862-6451T>A (n.862-6451T>A)
c.296T>A (p.Val99Asp)
c.61-6451T>A (n.61-6451T>A)
c.442-6451T>A (n.442-6451T>A)
2g.233760583T>CCA351066361UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6451T>C (n.856-6451T>C)
c.868-6451T>C (n.868-6451T>C)
c.862-6451T>C (n.862-6451T>C)
c.296T>C (p.Val99Ala)
c.61-6451T>C (n.61-6451T>C)
c.442-6451T>C (n.442-6451T>C)
2g.233760583T>GCA351066362UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6451T>G (n.856-6451T>G)
c.868-6451T>G (n.868-6451T>G)
c.862-6451T>G (n.862-6451T>G)
c.296T>G (p.Val99Gly)
c.61-6451T>G (n.61-6451T>G)
c.442-6451T>G (n.442-6451T>G)
2g.233760587delCA431960276UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6447del (n.856-6447del)
c.868-6447del (n.868-6447del)
c.862-6447del (n.862-6447del)
c.300del (p.Phe100LeufsTer10)
c.61-6447del (n.61-6447del)
c.442-6447del (n.442-6447del)
 ClinVar gnomAD v4
2g.233760584T>ACA431960281UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6450T>A (n.856-6450T>A)
c.868-6450T>A (n.868-6450T>A)
c.862-6450T>A (n.862-6450T>A)
c.297T>A (p.Val99=)
c.61-6450T>A (n.61-6450T>A)
c.442-6450T>A (n.442-6450T>A)
2g.233760584T>CCA431960280UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6450T>C (n.856-6450T>C)
c.868-6450T>C (n.868-6450T>C)
c.862-6450T>C (n.862-6450T>C)
c.297T>C (p.Val99=)
c.61-6450T>C (n.61-6450T>C)
c.442-6450T>C (n.442-6450T>C)
2g.233760584T>GCA431960282UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6450T>G (n.856-6450T>G)
c.868-6450T>G (n.868-6450T>G)
c.862-6450T>G (n.862-6450T>G)
c.297T>G (p.Val99=)
c.61-6450T>G (n.61-6450T>G)
c.442-6450T>G (n.442-6450T>G)
2g.233760585T>ACA351066365UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6449T>A (n.856-6449T>A)
c.868-6449T>A (n.868-6449T>A)
c.862-6449T>A (n.862-6449T>A)
c.298T>A (p.Phe100Ile)
c.61-6449T>A (n.61-6449T>A)
c.442-6449T>A (n.442-6449T>A)
 dbSNP gnomAD v4
2g.233760585T>CCA351066364UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6449T>C (n.856-6449T>C)
c.868-6449T>C (n.868-6449T>C)
c.862-6449T>C (n.862-6449T>C)
c.298T>C (p.Phe100Leu)
c.61-6449T>C (n.61-6449T>C)
c.442-6449T>C (n.442-6449T>C)
2g.233760585T>GCA351066363UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6449T>G (n.856-6449T>G)
c.868-6449T>G (n.868-6449T>G)
c.862-6449T>G (n.862-6449T>G)
c.298T>G (p.Phe100Val)
c.61-6449T>G (n.61-6449T>G)
c.442-6449T>G (n.442-6449T>G)
2g.233760586T>ACA351066366UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6448T>A (n.856-6448T>A)
c.868-6448T>A (n.868-6448T>A)
c.862-6448T>A (n.862-6448T>A)
c.299T>A (p.Phe100Tyr)
c.61-6448T>A (n.61-6448T>A)
c.442-6448T>A (n.442-6448T>A)
2g.233760586T>CCA351066367UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6448T>C (n.856-6448T>C)
c.868-6448T>C (n.868-6448T>C)
c.862-6448T>C (n.862-6448T>C)
c.299T>C (p.Phe100Ser)
c.61-6448T>C (n.61-6448T>C)
c.442-6448T>C (n.442-6448T>C)
2g.233760586T>GCA351066368UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6448T>G (n.856-6448T>G)
c.868-6448T>G (n.868-6448T>G)
c.862-6448T>G (n.862-6448T>G)
c.299T>G (p.Phe100Cys)
c.61-6448T>G (n.61-6448T>G)
c.442-6448T>G (n.442-6448T>G)
 gnomAD v4
2g.233760587T>ACA351066369UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6447T>A (n.856-6447T>A)
c.868-6447T>A (n.868-6447T>A)
c.862-6447T>A (n.862-6447T>A)
c.300T>A (p.Phe100Leu)
c.61-6447T>A (n.61-6447T>A)
c.442-6447T>A (n.442-6447T>A)
2g.233760587T>CCA2179804UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6447T>C (n.856-6447T>C)
c.868-6447T>C (n.868-6447T>C)
c.862-6447T>C (n.862-6447T>C)
c.300T>C (p.Phe100=)
c.61-6447T>C (n.61-6447T>C)
c.442-6447T>C (n.442-6447T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760587T>GCA351066370UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6447T>G (n.856-6447T>G)
c.868-6447T>G (n.868-6447T>G)
c.862-6447T>G (n.862-6447T>G)
c.300T>G (p.Phe100Leu)
c.61-6447T>G (n.61-6447T>G)
c.442-6447T>G (n.442-6447T>G)
 dbSNP
2g.233760587T=CA1335889245UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6447T= (n.856-6447T=)
c.868-6447T= (n.868-6447T=)
c.862-6447T= (n.862-6447T=)
c.300T= (p.Phe100=)
c.61-6447T= (n.61-6447T=)
c.442-6447T= (n.442-6447T=)
2g.233760588G>ACA351066373UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6446G>A (n.856-6446G>A)
c.868-6446G>A (n.868-6446G>A)
c.862-6446G>A (n.862-6446G>A)
c.301G>A (p.Glu101Lys)
c.61-6446G>A (n.61-6446G>A)
c.442-6446G>A (n.442-6446G>A)
 dbSNP
2g.233760588G>CCA351066371UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6446G>C (n.856-6446G>C)
c.868-6446G>C (n.868-6446G>C)
c.862-6446G>C (n.862-6446G>C)
c.301G>C (p.Glu101Gln)
c.61-6446G>C (n.61-6446G>C)
c.442-6446G>C (n.442-6446G>C)
 dbSNP
2g.233760588G>TCA351066372UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6446G>T (n.856-6446G>T)
c.868-6446G>T (n.868-6446G>T)
c.862-6446G>T (n.862-6446G>T)
c.301G>T (p.Glu101Ter)
c.61-6446G>T (n.61-6446G>T)
c.442-6446G>T (n.442-6446G>T)
2g.233760589A>CCA351066374UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6445A>C (n.856-6445A>C)
c.868-6445A>C (n.868-6445A>C)
c.862-6445A>C (n.862-6445A>C)
c.302A>C (p.Glu101Ala)
c.61-6445A>C (n.61-6445A>C)
c.442-6445A>C (n.442-6445A>C)
2g.233760589A>GCA351066375UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6445A>G (n.856-6445A>G)
c.868-6445A>G (n.868-6445A>G)
c.862-6445A>G (n.862-6445A>G)
c.302A>G (p.Glu101Gly)
c.61-6445A>G (n.61-6445A>G)
c.442-6445A>G (n.442-6445A>G)
 dbSNP
2g.233760589A>TCA351066376UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6445A>T (n.856-6445A>T)
c.868-6445A>T (n.868-6445A>T)
c.862-6445A>T (n.862-6445A>T)
c.302A>T (p.Glu101Val)
c.61-6445A>T (n.61-6445A>T)
c.442-6445A>T (n.442-6445A>T)
 gnomAD v4
2g.233760590G>ACA431960287UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6444G>A (n.856-6444G>A)
c.868-6444G>A (n.868-6444G>A)
c.862-6444G>A (n.862-6444G>A)
c.303G>A (p.Glu101=)
c.61-6444G>A (n.61-6444G>A)
c.442-6444G>A (n.442-6444G>A)
2g.233760590G>CCA351066377UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6444G>C (n.856-6444G>C)
c.868-6444G>C (n.868-6444G>C)
c.862-6444G>C (n.862-6444G>C)
c.303G>C (p.Glu101Asp)
c.61-6444G>C (n.61-6444G>C)
c.442-6444G>C (n.442-6444G>C)
2g.233760590G>TCA351066378UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6444G>T (n.856-6444G>T)
c.868-6444G>T (n.868-6444G>T)
c.862-6444G>T (n.862-6444G>T)
c.303G>T (p.Glu101Asp)
c.61-6444G>T (n.61-6444G>T)
c.442-6444G>T (n.442-6444G>T)
 COSMIC
2g.233760591A>CCA351066379UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6443A>C (n.856-6443A>C)
c.868-6443A>C (n.868-6443A>C)
c.862-6443A>C (n.862-6443A>C)
c.304A>C (p.Asn102His)
c.61-6443A>C (n.61-6443A>C)
c.442-6443A>C (n.442-6443A>C)
2g.233760591A>GCA351066380UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6443A>G (n.856-6443A>G)
c.868-6443A>G (n.868-6443A>G)
c.862-6443A>G (n.862-6443A>G)
c.304A>G (p.Asn102Asp)
c.61-6443A>G (n.61-6443A>G)
c.442-6443A>G (n.442-6443A>G)
2g.233760591A>TCA351066381UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6443A>T (n.856-6443A>T)
c.868-6443A>T (n.868-6443A>T)
c.862-6443A>T (n.862-6443A>T)
c.304A>T (p.Asn102Tyr)
c.61-6443A>T (n.61-6443A>T)
c.442-6443A>T (n.442-6443A>T)
2g.233760592A>CCA351066382UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6442A>C (n.856-6442A>C)
c.868-6442A>C (n.868-6442A>C)
c.862-6442A>C (n.862-6442A>C)
c.305A>C (p.Asn102Thr)
c.61-6442A>C (n.61-6442A>C)
c.442-6442A>C (n.442-6442A>C)
2g.233760592A>GCA351066383UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6442A>G (n.856-6442A>G)
c.868-6442A>G (n.868-6442A>G)
c.862-6442A>G (n.862-6442A>G)
c.305A>G (p.Asn102Ser)
c.61-6442A>G (n.61-6442A>G)
c.442-6442A>G (n.442-6442A>G)
 dbSNP gnomAD v4
2g.233760592A>TCA351066384UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6442A>T (n.856-6442A>T)
c.868-6442A>T (n.868-6442A>T)
c.862-6442A>T (n.862-6442A>T)
c.305A>T (p.Asn102Ile)
c.61-6442A>T (n.61-6442A>T)
c.442-6442A>T (n.442-6442A>T)
2g.233760593T>ACA351066385UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6441T>A (n.856-6441T>A)
c.868-6441T>A (n.868-6441T>A)
c.862-6441T>A (n.862-6441T>A)
c.306T>A (p.Asn102Lys)
c.61-6441T>A (n.61-6441T>A)
c.442-6441T>A (n.442-6441T>A)
 dbSNP
2g.233760593T>CCA431960292UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6441T>C (n.856-6441T>C)
c.868-6441T>C (n.868-6441T>C)
c.862-6441T>C (n.862-6441T>C)
c.306T>C (p.Asn102=)
c.61-6441T>C (n.61-6441T>C)
c.442-6441T>C (n.442-6441T>C)
2g.233760593T>GCA351066386UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6441T>G (n.856-6441T>G)
c.868-6441T>G (n.868-6441T>G)
c.862-6441T>G (n.862-6441T>G)
c.306T>G (p.Asn102Lys)
c.61-6441T>G (n.61-6441T>G)
c.442-6441T>G (n.442-6441T>G)
2g.233760594G>ACA351066387UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6440G>A (n.856-6440G>A)
c.868-6440G>A (n.868-6440G>A)
c.862-6440G>A (n.862-6440G>A)
c.307G>A (p.Asp103Asn)
c.61-6440G>A (n.61-6440G>A)
c.442-6440G>A (n.442-6440G>A)
 dbSNP COSMIC
2g.233760594G>CCA351066389UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6440G>C (n.856-6440G>C)
c.868-6440G>C (n.868-6440G>C)
c.862-6440G>C (n.862-6440G>C)
c.307G>C (p.Asp103His)
c.61-6440G>C (n.61-6440G>C)
c.442-6440G>C (n.442-6440G>C)
 dbSNP
2g.233760594G>TCA351066388UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6440G>T (n.856-6440G>T)
c.868-6440G>T (n.868-6440G>T)
c.862-6440G>T (n.862-6440G>T)
c.307G>T (p.Asp103Tyr)
c.61-6440G>T (n.61-6440G>T)
c.442-6440G>T (n.442-6440G>T)
 gnomAD v4 COSMIC COSMIC
2g.233760595A>CCA351066390UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6439A>C (n.856-6439A>C)
c.868-6439A>C (n.868-6439A>C)
c.862-6439A>C (n.862-6439A>C)
c.308A>C (p.Asp103Ala)
c.61-6439A>C (n.61-6439A>C)
c.442-6439A>C (n.442-6439A>C)
2g.233760595A>GCA351066391UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6439A>G (n.856-6439A>G)
c.868-6439A>G (n.868-6439A>G)
c.862-6439A>G (n.862-6439A>G)
c.308A>G (p.Asp103Gly)
c.61-6439A>G (n.61-6439A>G)
c.442-6439A>G (n.442-6439A>G)
2g.233760595A>TCA351066392UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6439A>T (n.856-6439A>T)
c.868-6439A>T (n.868-6439A>T)
c.862-6439A>T (n.862-6439A>T)
c.308A>T (p.Asp103Val)
c.61-6439A>T (n.61-6439A>T)
c.442-6439A>T (n.442-6439A>T)
2g.233760596T>ACA351066393UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6438T>A (n.856-6438T>A)
c.868-6438T>A (n.868-6438T>A)
c.862-6438T>A (n.862-6438T>A)
c.309T>A (p.Asp103Glu)
c.61-6438T>A (n.61-6438T>A)
c.442-6438T>A (n.442-6438T>A)
2g.233760596T>CCA431960293UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6438T>C (n.856-6438T>C)
c.868-6438T>C (n.868-6438T>C)
c.862-6438T>C (n.862-6438T>C)
c.309T>C (p.Asp103=)
c.61-6438T>C (n.61-6438T>C)
c.442-6438T>C (n.442-6438T>C)
2g.233760596T>GCA351066394UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6438T>G (n.856-6438T>G)
c.868-6438T>G (n.868-6438T>G)
c.862-6438T>G (n.862-6438T>G)
c.309T>G (p.Asp103Glu)
c.61-6438T>G (n.61-6438T>G)
c.442-6438T>G (n.442-6438T>G)
2g.233760597T>ACA351066396UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6437T>A (n.856-6437T>A)
c.868-6437T>A (n.868-6437T>A)
c.862-6437T>A (n.862-6437T>A)
c.310T>A (p.Ser104Thr)
c.61-6437T>A (n.61-6437T>A)
c.442-6437T>A (n.442-6437T>A)
 dbSNP
2g.233760597T>CCA351066395UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6437T>C (n.856-6437T>C)
c.868-6437T>C (n.868-6437T>C)
c.862-6437T>C (n.862-6437T>C)
c.310T>C (p.Ser104Pro)
c.61-6437T>C (n.61-6437T>C)
c.442-6437T>C (n.442-6437T>C)
2g.233760597T>GCA2179805UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6437T>G (n.856-6437T>G)
c.868-6437T>G (n.868-6437T>G)
c.862-6437T>G (n.862-6437T>G)
c.310T>G (p.Ser104Ala)
c.61-6437T>G (n.61-6437T>G)
c.442-6437T>G (n.442-6437T>G)
 dbSNP ExAC gnomAD v2
2g.233760597T=CA1335889247UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6437T= (n.856-6437T=)
c.868-6437T= (n.868-6437T=)
c.862-6437T= (n.862-6437T=)
c.310T= (p.Ser104=)
c.61-6437T= (n.61-6437T=)
c.442-6437T= (n.442-6437T=)
2g.233760598C>ACA351066397UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6436C>A (n.856-6436C>A)
c.868-6436C>A (n.868-6436C>A)
c.862-6436C>A (n.862-6436C>A)
c.311C>A (p.Ser104Tyr)
c.61-6436C>A (n.61-6436C>A)
c.442-6436C>A (n.442-6436C>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.233760598C=CA1335889249UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6436C= (n.856-6436C=)
c.868-6436C= (n.868-6436C=)
c.862-6436C= (n.862-6436C=)
c.311C= (p.Ser104=)
c.61-6436C= (n.61-6436C=)
c.442-6436C= (n.442-6436C=)
2g.233760598C>GCA351066398UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6436C>G (n.856-6436C>G)
c.868-6436C>G (n.868-6436C>G)
c.862-6436C>G (n.862-6436C>G)
c.311C>G (p.Ser104Cys)
c.61-6436C>G (n.61-6436C>G)
c.442-6436C>G (n.442-6436C>G)
 dbSNP
2g.233760598C>TCA351066399UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6436C>T (n.856-6436C>T)
c.868-6436C>T (n.868-6436C>T)
c.862-6436C>T (n.862-6436C>T)
c.311C>T (p.Ser104Phe)
c.61-6436C>T (n.61-6436C>T)
c.442-6436C>T (n.442-6436C>T)
2g.233760599T>ACA431960296UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6435T>A (n.856-6435T>A)
c.868-6435T>A (n.868-6435T>A)
c.862-6435T>A (n.862-6435T>A)
c.312T>A (p.Ser104=)
c.61-6435T>A (n.61-6435T>A)
c.442-6435T>A (n.442-6435T>A)
2g.233760599T>CCA431960297UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6435T>C (n.856-6435T>C)
c.868-6435T>C (n.868-6435T>C)
c.862-6435T>C (n.862-6435T>C)
c.312T>C (p.Ser104=)
c.61-6435T>C (n.61-6435T>C)
c.442-6435T>C (n.442-6435T>C)
2g.233760599T>GCA431960298UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6435T>G (n.856-6435T>G)
c.868-6435T>G (n.868-6435T>G)
c.862-6435T>G (n.862-6435T>G)
c.312T>G (p.Ser104=)
c.61-6435T>G (n.61-6435T>G)
c.442-6435T>G (n.442-6435T>G)
2g.233760600T>ACA351066400UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6434T>A (n.856-6434T>A)
c.868-6434T>A (n.868-6434T>A)
c.862-6434T>A (n.862-6434T>A)
c.313T>A (p.Phe105Ile)
c.61-6434T>A (n.61-6434T>A)
c.442-6434T>A (n.442-6434T>A)
 dbSNP
2g.233760600T>CCA351066401UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6434T>C (n.856-6434T>C)
c.868-6434T>C (n.868-6434T>C)
c.862-6434T>C (n.862-6434T>C)
c.313T>C (p.Phe105Leu)
c.61-6434T>C (n.61-6434T>C)
c.442-6434T>C (n.442-6434T>C)
2g.233760600T>GCA351066402UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6434T>G (n.856-6434T>G)
c.868-6434T>G (n.868-6434T>G)
c.862-6434T>G (n.862-6434T>G)
c.313T>G (p.Phe105Val)
c.61-6434T>G (n.61-6434T>G)
c.442-6434T>G (n.442-6434T>G)
2g.233760601T>ACA351066403UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6433T>A (n.856-6433T>A)
c.868-6433T>A (n.868-6433T>A)
c.862-6433T>A (n.862-6433T>A)
c.314T>A (p.Phe105Tyr)
c.61-6433T>A (n.61-6433T>A)
c.442-6433T>A (n.442-6433T>A)
2g.233760601T>CCA351066405UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6433T>C (n.856-6433T>C)
c.868-6433T>C (n.868-6433T>C)
c.862-6433T>C (n.862-6433T>C)
c.314T>C (p.Phe105Ser)
c.61-6433T>C (n.61-6433T>C)
c.442-6433T>C (n.442-6433T>C)
2g.233760601T>GCA351066404UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6433T>G (n.856-6433T>G)
c.868-6433T>G (n.868-6433T>G)
c.862-6433T>G (n.862-6433T>G)
c.314T>G (p.Phe105Cys)
c.61-6433T>G (n.61-6433T>G)
c.442-6433T>G (n.442-6433T>G)
2g.233760602C>ACA351066406UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6432C>A (n.856-6432C>A)
c.868-6432C>A (n.868-6432C>A)
c.862-6432C>A (n.862-6432C>A)
c.315C>A (p.Phe105Leu)
c.61-6432C>A (n.61-6432C>A)
c.442-6432C>A (n.442-6432C>A)
 dbSNP
2g.233760602C>GCA351066407UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6432C>G (n.856-6432C>G)
c.868-6432C>G (n.868-6432C>G)
c.862-6432C>G (n.862-6432C>G)
c.315C>G (p.Phe105Leu)
c.61-6432C>G (n.61-6432C>G)
c.442-6432C>G (n.442-6432C>G)
 dbSNP
2g.233760602C>TCA431960299UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6432C>T (n.856-6432C>T)
c.868-6432C>T (n.868-6432C>T)
c.862-6432C>T (n.862-6432C>T)
c.315C>T (p.Phe105=)
c.61-6432C>T (n.61-6432C>T)
c.442-6432C>T (n.442-6432C>T)
2g.233760603C>ACA351066408UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6431C>A (n.856-6431C>A)
c.868-6431C>A (n.868-6431C>A)
c.862-6431C>A (n.862-6431C>A)
c.316C>A (p.Leu106Met)
c.61-6431C>A (n.61-6431C>A)
c.442-6431C>A (n.442-6431C>A)
2g.233760603C>GCA351066409UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6431C>G (n.856-6431C>G)
c.868-6431C>G (n.868-6431C>G)
c.862-6431C>G (n.862-6431C>G)
c.316C>G (p.Leu106Val)
c.61-6431C>G (n.61-6431C>G)
c.442-6431C>G (n.442-6431C>G)
2g.233760603C>TCA431960302UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6431C>T (n.856-6431C>T)
c.868-6431C>T (n.868-6431C>T)
c.862-6431C>T (n.862-6431C>T)
c.316C>T (p.Leu106=)
c.61-6431C>T (n.61-6431C>T)
c.442-6431C>T (n.442-6431C>T)
 gnomAD v4
2g.233760604T>ACA351066410UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6430T>A (n.856-6430T>A)
c.868-6430T>A (n.868-6430T>A)
c.862-6430T>A (n.862-6430T>A)
c.317T>A (p.Leu106Gln)
c.61-6430T>A (n.61-6430T>A)
c.442-6430T>A (n.442-6430T>A)
 dbSNP
2g.233760604T>CCA351066411UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6430T>C (n.856-6430T>C)
c.868-6430T>C (n.868-6430T>C)
c.862-6430T>C (n.862-6430T>C)
c.317T>C (p.Leu106Pro)
c.61-6430T>C (n.61-6430T>C)
c.442-6430T>C (n.442-6430T>C)
2g.233760604T>GCA351066412UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6430T>G (n.856-6430T>G)
c.868-6430T>G (n.868-6430T>G)
c.862-6430T>G (n.862-6430T>G)
c.317T>G (p.Leu106Arg)
c.61-6430T>G (n.61-6430T>G)
c.442-6430T>G (n.442-6430T>G)
2g.233760605G>ACA431960304UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6429G>A (n.856-6429G>A)
c.868-6429G>A (n.868-6429G>A)
c.862-6429G>A (n.862-6429G>A)
c.318G>A (p.Leu106=)
c.61-6429G>A (n.61-6429G>A)
c.442-6429G>A (n.442-6429G>A)
 dbSNP
2g.233760605G>CCA431960305UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6429G>C (n.856-6429G>C)
c.868-6429G>C (n.868-6429G>C)
c.862-6429G>C (n.862-6429G>C)
c.318G>C (p.Leu106=)
c.61-6429G>C (n.61-6429G>C)
c.442-6429G>C (n.442-6429G>C)
2g.233760605G>TCA431960306UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6429G>T (n.856-6429G>T)
c.868-6429G>T (n.868-6429G>T)
c.862-6429G>T (n.862-6429G>T)
c.318G>T (p.Leu106=)
c.61-6429G>T (n.61-6429G>T)
c.442-6429G>T (n.442-6429G>T)
2g.233760606C>ACA351066413UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6428C>A (n.856-6428C>A)
c.868-6428C>A (n.868-6428C>A)
c.862-6428C>A (n.862-6428C>A)
c.319C>A (p.Gln107Lys)
c.61-6428C>A (n.61-6428C>A)
c.442-6428C>A (n.442-6428C>A)
 dbSNP
2g.233760606C>GCA351066414UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6428C>G (n.856-6428C>G)
c.868-6428C>G (n.868-6428C>G)
c.862-6428C>G (n.862-6428C>G)
c.319C>G (p.Gln107Glu)
c.61-6428C>G (n.61-6428C>G)
c.442-6428C>G (n.442-6428C>G)
 dbSNP
2g.233760606C>TCA351066415UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6428C>T (n.856-6428C>T)
c.868-6428C>T (n.868-6428C>T)
c.862-6428C>T (n.862-6428C>T)
c.319C>T (p.Gln107Ter)
c.61-6428C>T (n.61-6428C>T)
c.442-6428C>T (n.442-6428C>T)
 dbSNP
2g.233760607A>CCA351066416UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6427A>C (n.856-6427A>C)
c.868-6427A>C (n.868-6427A>C)
c.862-6427A>C (n.862-6427A>C)
c.320A>C (p.Gln107Pro)
c.61-6427A>C (n.61-6427A>C)
c.442-6427A>C (n.442-6427A>C)
2g.233760607A>GCA351066418UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6427A>G (n.856-6427A>G)
c.868-6427A>G (n.868-6427A>G)
c.862-6427A>G (n.862-6427A>G)
c.320A>G (p.Gln107Arg)
c.61-6427A>G (n.61-6427A>G)
c.442-6427A>G (n.442-6427A>G)
2g.233760607A>TCA351066417UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6427A>T (n.856-6427A>T)
c.868-6427A>T (n.868-6427A>T)
c.862-6427A>T (n.862-6427A>T)
c.320A>T (p.Gln107Leu)
c.61-6427A>T (n.61-6427A>T)
c.442-6427A>T (n.442-6427A>T)
2g.233760608G>ACA431960308UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6426G>A (n.856-6426G>A)
c.868-6426G>A (n.868-6426G>A)
c.862-6426G>A (n.862-6426G>A)
c.321G>A (p.Gln107=)
c.61-6426G>A (n.61-6426G>A)
c.442-6426G>A (n.442-6426G>A)
 dbSNP
2g.233760608G>CCA351066419UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6426G>C (n.856-6426G>C)
c.868-6426G>C (n.868-6426G>C)
c.862-6426G>C (n.862-6426G>C)
c.321G>C (p.Gln107His)
c.61-6426G>C (n.61-6426G>C)
c.442-6426G>C (n.442-6426G>C)
2g.233760608G>TCA351066420UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6426G>T (n.856-6426G>T)
c.868-6426G>T (n.868-6426G>T)
c.862-6426G>T (n.862-6426G>T)
c.321G>T (p.Gln107His)
c.61-6426G>T (n.61-6426G>T)
c.442-6426G>T (n.442-6426G>T)
2g.233760609C>ACA351066421UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6425C>A (n.856-6425C>A)
c.868-6425C>A (n.868-6425C>A)
c.862-6425C>A (n.862-6425C>A)
c.322C>A (p.Arg108Ser)
c.61-6425C>A (n.61-6425C>A)
c.442-6425C>A (n.442-6425C>A)
2g.233760609C=CA1335889251UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6425C= (n.856-6425C=)
c.868-6425C= (n.868-6425C=)
c.862-6425C= (n.862-6425C=)
c.322C= (p.Arg108=)
c.61-6425C= (n.61-6425C=)
c.442-6425C= (n.442-6425C=)
2g.233760609C>GCA351066422UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6425C>G (n.856-6425C>G)
c.868-6425C>G (n.868-6425C>G)
c.862-6425C>G (n.862-6425C>G)
c.322C>G (p.Arg108Gly)
c.61-6425C>G (n.61-6425C>G)
c.442-6425C>G (n.442-6425C>G)
2g.233760609C>TCA173874UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6425C>T (n.856-6425C>T)
c.868-6425C>T (n.868-6425C>T)
c.862-6425C>T (n.862-6425C>T)
c.322C>T (p.Arg108Cys)
c.61-6425C>T (n.61-6425C>T)
c.442-6425C>T (n.442-6425C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760610G>ACA351066425UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6424G>A (n.856-6424G>A)
c.868-6424G>A (n.868-6424G>A)
c.862-6424G>A (n.862-6424G>A)
c.323G>A (p.Arg108His)
c.61-6424G>A (n.61-6424G>A)
c.442-6424G>A (n.442-6424G>A)
 gnomAD v4 COSMIC
2g.233760610G>CCA351066424UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6424G>C (n.856-6424G>C)
c.868-6424G>C (n.868-6424G>C)
c.862-6424G>C (n.862-6424G>C)
c.323G>C (p.Arg108Pro)
c.61-6424G>C (n.61-6424G>C)
c.442-6424G>C (n.442-6424G>C)
 gnomAD v4
2g.233760610G=CA1335889254UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6424G= (n.856-6424G=)
c.868-6424G= (n.868-6424G=)
c.862-6424G= (n.862-6424G=)
c.323G= (p.Arg108=)
c.61-6424G= (n.61-6424G=)
c.442-6424G= (n.442-6424G=)
2g.233760610G>TCA351066423UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6424G>T (n.856-6424G>T)
c.868-6424G>T (n.868-6424G>T)
c.862-6424G>T (n.862-6424G>T)
c.323G>T (p.Arg108Leu)
c.61-6424G>T (n.61-6424G>T)
c.442-6424G>T (n.442-6424G>T)
 dbSNP gnomAD v4
2g.233760611T>ACA431960313UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6423T>A (n.856-6423T>A)
c.868-6423T>A (n.868-6423T>A)
c.862-6423T>A (n.862-6423T>A)
c.324T>A (p.Arg108=)
c.61-6423T>A (n.61-6423T>A)
c.442-6423T>A (n.442-6423T>A)
2g.233760611T>CCA431960314UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6423T>C (n.856-6423T>C)
c.868-6423T>C (n.868-6423T>C)
c.862-6423T>C (n.862-6423T>C)
c.324T>C (p.Arg108=)
c.61-6423T>C (n.61-6423T>C)
c.442-6423T>C (n.442-6423T>C)
2g.233760611T>GCA431960312UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6423T>G (n.856-6423T>G)
c.868-6423T>G (n.868-6423T>G)
c.862-6423T>G (n.862-6423T>G)
c.324T>G (p.Arg108=)
c.61-6423T>G (n.61-6423T>G)
c.442-6423T>G (n.442-6423T>G)
2g.233760612G>ACA351066426UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6422G>A (n.856-6422G>A)
c.868-6422G>A (n.868-6422G>A)
c.862-6422G>A (n.862-6422G>A)
c.325G>A (p.Val109Met)
c.61-6422G>A (n.61-6422G>A)
c.442-6422G>A (n.442-6422G>A)
 COSMIC COSMIC
2g.233760612G>CCA351066427UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6422G>C (n.856-6422G>C)
c.868-6422G>C (n.868-6422G>C)
c.862-6422G>C (n.862-6422G>C)
c.325G>C (p.Val109Leu)
c.61-6422G>C (n.61-6422G>C)
c.442-6422G>C (n.442-6422G>C)
 gnomAD v4
2g.233760612G>TCA351066428UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6422G>T (n.856-6422G>T)
c.868-6422G>T (n.868-6422G>T)
c.862-6422G>T (n.862-6422G>T)
c.325G>T (p.Val109Leu)
c.61-6422G>T (n.61-6422G>T)
c.442-6422G>T (n.442-6422G>T)
2g.233760613T>ACA351066429UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6421T>A (n.856-6421T>A)
c.868-6421T>A (n.868-6421T>A)
c.862-6421T>A (n.862-6421T>A)
c.326T>A (p.Val109Glu)
c.61-6421T>A (n.61-6421T>A)
c.442-6421T>A (n.442-6421T>A)
2g.233760613T>CCA2179806UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6421T>C (n.856-6421T>C)
c.868-6421T>C (n.868-6421T>C)
c.862-6421T>C (n.862-6421T>C)
c.326T>C (p.Val109Ala)
c.61-6421T>C (n.61-6421T>C)
c.442-6421T>C (n.442-6421T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760613T>GCA351066430UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6421T>G (n.856-6421T>G)
c.868-6421T>G (n.868-6421T>G)
c.862-6421T>G (n.862-6421T>G)
c.326T>G (p.Val109Gly)
c.61-6421T>G (n.61-6421T>G)
c.442-6421T>G (n.442-6421T>G)
2g.233760613T=CA1335889257UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6421T= (n.856-6421T=)
c.868-6421T= (n.868-6421T=)
c.862-6421T= (n.862-6421T=)
c.326T= (p.Val109=)
c.61-6421T= (n.61-6421T=)
c.442-6421T= (n.442-6421T=)
2g.233760614G>ACA431960316UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6420G>A (n.856-6420G>A)
c.868-6420G>A (n.868-6420G>A)
c.862-6420G>A (n.862-6420G>A)
c.327G>A (p.Val109=)
c.61-6420G>A (n.61-6420G>A)
c.442-6420G>A (n.442-6420G>A)
2g.233760614G>CCA431960317UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6420G>C (n.856-6420G>C)
c.868-6420G>C (n.868-6420G>C)
c.862-6420G>C (n.862-6420G>C)
c.327G>C (p.Val109=)
c.61-6420G>C (n.61-6420G>C)
c.442-6420G>C (n.442-6420G>C)
2g.233760614G>TCA431960315UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6420G>T (n.856-6420G>T)
c.868-6420G>T (n.868-6420G>T)
c.862-6420G>T (n.862-6420G>T)
c.327G>T (p.Val109=)
c.61-6420G>T (n.61-6420G>T)
c.442-6420G>T (n.442-6420G>T)
2g.233760615A>CCA351066433UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6419A>C (n.856-6419A>C)
c.868-6419A>C (n.868-6419A>C)
c.862-6419A>C (n.862-6419A>C)
c.328A>C (p.Ile110Leu)
c.61-6419A>C (n.61-6419A>C)
c.442-6419A>C (n.442-6419A>C)
2g.233760615A>GCA351066431UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6419A>G (n.856-6419A>G)
c.868-6419A>G (n.868-6419A>G)
c.862-6419A>G (n.862-6419A>G)
c.328A>G (p.Ile110Val)
c.61-6419A>G (n.61-6419A>G)
c.442-6419A>G (n.442-6419A>G)
2g.233760615A>TCA351066432UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6419A>T (n.856-6419A>T)
c.868-6419A>T (n.868-6419A>T)
c.862-6419A>T (n.862-6419A>T)
c.328A>T (p.Ile110Phe)
c.61-6419A>T (n.61-6419A>T)
c.442-6419A>T (n.442-6419A>T)
2g.233760616T>ACA351066434UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6418T>A (n.856-6418T>A)
c.868-6418T>A (n.868-6418T>A)
c.862-6418T>A (n.862-6418T>A)
c.329T>A (p.Ile110Asn)
c.61-6418T>A (n.61-6418T>A)
c.442-6418T>A (n.442-6418T>A)
2g.233760616T>CCA351066435UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6418T>C (n.856-6418T>C)
c.868-6418T>C (n.868-6418T>C)
c.862-6418T>C (n.862-6418T>C)
c.329T>C (p.Ile110Thr)
c.61-6418T>C (n.61-6418T>C)
c.442-6418T>C (n.442-6418T>C)
2g.233760616T>GCA351066436UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6418T>G (n.856-6418T>G)
c.868-6418T>G (n.868-6418T>G)
c.862-6418T>G (n.862-6418T>G)
c.329T>G (p.Ile110Ser)
c.61-6418T>G (n.61-6418T>G)
c.442-6418T>G (n.442-6418T>G)
2g.233760617C>ACA431960322UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6417C>A (n.856-6417C>A)
c.868-6417C>A (n.868-6417C>A)
c.862-6417C>A (n.862-6417C>A)
c.330C>A (p.Ile110=)
c.61-6417C>A (n.61-6417C>A)
c.442-6417C>A (n.442-6417C>A)
2g.233760617C>GCA351066437UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6417C>G (n.856-6417C>G)
c.868-6417C>G (n.868-6417C>G)
c.862-6417C>G (n.862-6417C>G)
c.330C>G (p.Ile110Met)
c.61-6417C>G (n.61-6417C>G)
c.442-6417C>G (n.442-6417C>G)
2g.233760617C>TCA431960323UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6417C>T (n.856-6417C>T)
c.868-6417C>T (n.868-6417C>T)
c.862-6417C>T (n.862-6417C>T)
c.330C>T (p.Ile110=)
c.61-6417C>T (n.61-6417C>T)
c.442-6417C>T (n.442-6417C>T)
 COSMIC COSMIC
2g.233760618A=CA1335889259UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6416A= (n.856-6416A=)
c.868-6416A= (n.868-6416A=)
c.862-6416A= (n.862-6416A=)
c.331A= (p.Lys111=)
c.61-6416A= (n.61-6416A=)
c.442-6416A= (n.442-6416A=)
2g.233760618A>CCA67589794UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6416A>C (n.856-6416A>C)
c.868-6416A>C (n.868-6416A>C)
c.862-6416A>C (n.862-6416A>C)
c.331A>C (p.Lys111Gln)
c.61-6416A>C (n.61-6416A>C)
c.442-6416A>C (n.442-6416A>C)
 dbSNP gnomAD v4
2g.233760618A>GCA351066438UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6416A>G (n.856-6416A>G)
c.868-6416A>G (n.868-6416A>G)
c.862-6416A>G (n.862-6416A>G)
c.331A>G (p.Lys111Glu)
c.61-6416A>G (n.61-6416A>G)
c.442-6416A>G (n.442-6416A>G)
2g.233760618A>TCA351066439UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6416A>T (n.856-6416A>T)
c.868-6416A>T (n.868-6416A>T)
c.862-6416A>T (n.862-6416A>T)
c.331A>T (p.Lys111Ter)
c.61-6416A>T (n.61-6416A>T)
c.442-6416A>T (n.442-6416A>T)
2g.233760619A>CCA351066440UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6415A>C (n.856-6415A>C)
c.868-6415A>C (n.868-6415A>C)
c.862-6415A>C (n.862-6415A>C)
c.332A>C (p.Lys111Thr)
c.61-6415A>C (n.61-6415A>C)
c.442-6415A>C (n.442-6415A>C)
2g.233760619A>GCA351066441UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6415A>G (n.856-6415A>G)
c.868-6415A>G (n.868-6415A>G)
c.862-6415A>G (n.862-6415A>G)
c.332A>G (p.Lys111Arg)
c.61-6415A>G (n.61-6415A>G)
c.442-6415A>G (n.442-6415A>G)
 gnomAD v4
2g.233760619A>TCA351066442UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6415A>T (n.856-6415A>T)
c.868-6415A>T (n.868-6415A>T)
c.862-6415A>T (n.862-6415A>T)
c.332A>T (p.Lys111Ile)
c.61-6415A>T (n.61-6415A>T)
c.442-6415A>T (n.442-6415A>T)
2g.233760620A>CCA351066443UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6414A>C (n.856-6414A>C)
c.868-6414A>C (n.868-6414A>C)
c.862-6414A>C (n.862-6414A>C)
c.333A>C (p.Lys111Asn)
c.61-6414A>C (n.61-6414A>C)
c.442-6414A>C (n.442-6414A>C)
2g.233760620A>GCA431960328UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6414A>G (n.856-6414A>G)
c.868-6414A>G (n.868-6414A>G)
c.862-6414A>G (n.862-6414A>G)
c.333A>G (p.Lys111=)
c.61-6414A>G (n.61-6414A>G)
c.442-6414A>G (n.442-6414A>G)
2g.233760620A>TCA351066444UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6414A>T (n.856-6414A>T)
c.868-6414A>T (n.868-6414A>T)
c.862-6414A>T (n.862-6414A>T)
c.333A>T (p.Lys111Asn)
c.61-6414A>T (n.61-6414A>T)
c.442-6414A>T (n.442-6414A>T)
2g.233760621A>CCA351066445UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6413A>C (n.856-6413A>C)
c.868-6413A>C (n.868-6413A>C)
c.862-6413A>C (n.862-6413A>C)
c.334A>C (p.Thr112Pro)
c.61-6413A>C (n.61-6413A>C)
c.442-6413A>C (n.442-6413A>C)
2g.233760621A>GCA351066447UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6413A>G (n.856-6413A>G)
c.868-6413A>G (n.868-6413A>G)
c.862-6413A>G (n.862-6413A>G)
c.334A>G (p.Thr112Ala)
c.61-6413A>G (n.61-6413A>G)
c.442-6413A>G (n.442-6413A>G)
 gnomAD v4
2g.233760621A>TCA351066446UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6413A>T (n.856-6413A>T)
c.868-6413A>T (n.868-6413A>T)
c.862-6413A>T (n.862-6413A>T)
c.334A>T (p.Thr112Ser)
c.61-6413A>T (n.61-6413A>T)
c.442-6413A>T (n.442-6413A>T)
2g.233760622C>ACA351066448UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6412C>A (n.856-6412C>A)
c.868-6412C>A (n.868-6412C>A)
c.862-6412C>A (n.862-6412C>A)
c.335C>A (p.Thr112Lys)
c.61-6412C>A (n.61-6412C>A)
c.442-6412C>A (n.442-6412C>A)
2g.233760622C=CA1335889262UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6412C= (n.856-6412C=)
c.868-6412C= (n.868-6412C=)
c.862-6412C= (n.862-6412C=)
c.335C= (p.Thr112=)
c.61-6412C= (n.61-6412C=)
c.442-6412C= (n.442-6412C=)
2g.233760622C>GCA2179807UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6412C>G (n.856-6412C>G)
c.868-6412C>G (n.868-6412C>G)
c.862-6412C>G (n.862-6412C>G)
c.335C>G (p.Thr112Arg)
c.61-6412C>G (n.61-6412C>G)
c.442-6412C>G (n.442-6412C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760622C>TCA351066449UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6412C>T (n.856-6412C>T)
c.868-6412C>T (n.868-6412C>T)
c.862-6412C>T (n.862-6412C>T)
c.335C>T (p.Thr112Ile)
c.61-6412C>T (n.61-6412C>T)
c.442-6412C>T (n.442-6412C>T)
2g.233760623A=CA1335889264UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6411A= (n.856-6411A=)
c.868-6411A= (n.868-6411A=)
c.862-6411A= (n.862-6411A=)
c.336A= (p.Thr112=)
c.61-6411A= (n.61-6411A=)
c.442-6411A= (n.442-6411A=)
2g.233760623A>CCA431960335UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6411A>C (n.856-6411A>C)
c.868-6411A>C (n.868-6411A>C)
c.862-6411A>C (n.862-6411A>C)
c.336A>C (p.Thr112=)
c.61-6411A>C (n.61-6411A>C)
c.442-6411A>C (n.442-6411A>C)
2g.233760623A>GCA2179808UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6411A>G (n.856-6411A>G)
c.868-6411A>G (n.868-6411A>G)
c.862-6411A>G (n.862-6411A>G)
c.336A>G (p.Thr112=)
c.61-6411A>G (n.61-6411A>G)
c.442-6411A>G (n.442-6411A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760623A>TCA431960334UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6411A>T (n.856-6411A>T)
c.868-6411A>T (n.868-6411A>T)
c.862-6411A>T (n.862-6411A>T)
c.336A>T (p.Thr112=)
c.61-6411A>T (n.61-6411A>T)
c.442-6411A>T (n.442-6411A>T)
2g.233760624T>ACA351066450UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6410T>A (n.856-6410T>A)
c.868-6410T>A (n.868-6410T>A)
c.862-6410T>A (n.862-6410T>A)
c.337T>A (p.Tyr113Asn)
c.61-6410T>A (n.61-6410T>A)
c.442-6410T>A (n.442-6410T>A)
2g.233760624T>CCA351066451UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6410T>C (n.856-6410T>C)
c.868-6410T>C (n.868-6410T>C)
c.862-6410T>C (n.862-6410T>C)
c.337T>C (p.Tyr113His)
c.61-6410T>C (n.61-6410T>C)
c.442-6410T>C (n.442-6410T>C)
2g.233760624T>GCA351066452UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6410T>G (n.856-6410T>G)
c.868-6410T>G (n.868-6410T>G)
c.862-6410T>G (n.862-6410T>G)
c.337T>G (p.Tyr113Asp)
c.61-6410T>G (n.61-6410T>G)
c.442-6410T>G (n.442-6410T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.233760624T=CA1335889266UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6410T= (n.856-6410T=)
c.868-6410T= (n.868-6410T=)
c.862-6410T= (n.862-6410T=)
c.337T= (p.Tyr113=)
c.61-6410T= (n.61-6410T=)
c.442-6410T= (n.442-6410T=)
2g.233760625A>CCA351066453UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6409A>C (n.856-6409A>C)
c.868-6409A>C (n.868-6409A>C)
c.862-6409A>C (n.862-6409A>C)
c.338A>C (p.Tyr113Ser)
c.61-6409A>C (n.61-6409A>C)
c.442-6409A>C (n.442-6409A>C)
2g.233760625A>GCA351066454UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6409A>G (n.856-6409A>G)
c.868-6409A>G (n.868-6409A>G)
c.862-6409A>G (n.862-6409A>G)
c.338A>G (p.Tyr113Cys)
c.61-6409A>G (n.61-6409A>G)
c.442-6409A>G (n.442-6409A>G)
2g.233760625A>TCA351066455UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6409A>T (n.856-6409A>T)
c.868-6409A>T (n.868-6409A>T)
c.862-6409A>T (n.862-6409A>T)
c.338A>T (p.Tyr113Phe)
c.61-6409A>T (n.61-6409A>T)
c.442-6409A>T (n.442-6409A>T)
2g.233760626C>ACA351066456UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6408C>A (n.856-6408C>A)
c.868-6408C>A (n.868-6408C>A)
c.862-6408C>A (n.862-6408C>A)
c.339C>A (p.Tyr113Ter)
c.61-6408C>A (n.61-6408C>A)
c.442-6408C>A (n.442-6408C>A)
 dbSNP
2g.233760626C=CA1335889268UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6408C= (n.856-6408C=)
c.868-6408C= (n.868-6408C=)
c.862-6408C= (n.862-6408C=)
c.339C= (p.Tyr113=)
c.61-6408C= (n.61-6408C=)
c.442-6408C= (n.442-6408C=)
2g.233760626C>GCA351066457UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6408C>G (n.856-6408C>G)
c.868-6408C>G (n.868-6408C>G)
c.862-6408C>G (n.862-6408C>G)
c.339C>G (p.Tyr113Ter)
c.61-6408C>G (n.61-6408C>G)
c.442-6408C>G (n.442-6408C>G)
2g.233760626C>TCA431960338UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6408C>T (n.856-6408C>T)
c.868-6408C>T (n.868-6408C>T)
c.862-6408C>T (n.862-6408C>T)
c.339C>T (p.Tyr113=)
c.61-6408C>T (n.61-6408C>T)
c.442-6408C>T (n.442-6408C>T)
2g.233760627A>CCA351066460UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6407A>C (n.856-6407A>C)
c.868-6407A>C (n.868-6407A>C)
c.862-6407A>C (n.862-6407A>C)
c.340A>C (p.Lys114Gln)
c.61-6407A>C (n.61-6407A>C)
c.442-6407A>C (n.442-6407A>C)
2g.233760627A>GCA351066458UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6407A>G (n.856-6407A>G)
c.868-6407A>G (n.868-6407A>G)
c.862-6407A>G (n.862-6407A>G)
c.340A>G (p.Lys114Glu)
c.61-6407A>G (n.61-6407A>G)
c.442-6407A>G (n.442-6407A>G)
2g.233760627A>TCA351066459UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6407A>T (n.856-6407A>T)
c.868-6407A>T (n.868-6407A>T)
c.862-6407A>T (n.862-6407A>T)
c.340A>T (p.Lys114Ter)
c.61-6407A>T (n.61-6407A>T)
c.442-6407A>T (n.442-6407A>T)
2g.233760628A>CCA351066461UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6406A>C (n.856-6406A>C)
c.868-6406A>C (n.868-6406A>C)
c.862-6406A>C (n.862-6406A>C)
c.341A>C (p.Lys114Thr)
c.61-6406A>C (n.61-6406A>C)
c.442-6406A>C (n.442-6406A>C)
2g.233760628A>GCA351066462UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6406A>G (n.856-6406A>G)
c.868-6406A>G (n.868-6406A>G)
c.862-6406A>G (n.862-6406A>G)
c.341A>G (p.Lys114Arg)
c.61-6406A>G (n.61-6406A>G)
c.442-6406A>G (n.442-6406A>G)
2g.233760628A>TCA351066463UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6406A>T (n.856-6406A>T)
c.868-6406A>T (n.868-6406A>T)
c.862-6406A>T (n.862-6406A>T)
c.341A>T (p.Lys114Met)
c.61-6406A>T (n.61-6406A>T)
c.442-6406A>T (n.442-6406A>T)
 COSMIC COSMIC
2g.233760629G>ACA431960339UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6405G>A (n.856-6405G>A)
c.868-6405G>A (n.868-6405G>A)
c.862-6405G>A (n.862-6405G>A)
c.342G>A (p.Lys114=)
c.61-6405G>A (n.61-6405G>A)
c.442-6405G>A (n.442-6405G>A)
 gnomAD v4
2g.233760629G>CCA351066464UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6405G>C (n.856-6405G>C)
c.868-6405G>C (n.868-6405G>C)
c.862-6405G>C (n.862-6405G>C)
c.342G>C (p.Lys114Asn)
c.61-6405G>C (n.61-6405G>C)
c.442-6405G>C (n.442-6405G>C)
 gnomAD v4
2g.233760629G=CA1335889269UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6405G= (n.856-6405G=)
c.868-6405G= (n.868-6405G=)
c.862-6405G= (n.862-6405G=)
c.342G= (p.Lys114=)
c.61-6405G= (n.61-6405G=)
c.442-6405G= (n.442-6405G=)
2g.233760629G>TCA351066465UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6405G>T (n.856-6405G>T)
c.868-6405G>T (n.868-6405G>T)
c.862-6405G>T (n.862-6405G>T)
c.342G>T (p.Lys114Asn)
c.61-6405G>T (n.61-6405G>T)
c.442-6405G>T (n.442-6405G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.233760630A=CA1335889271UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6404A= (n.856-6404A=)
c.868-6404A= (n.868-6404A=)
c.862-6404A= (n.862-6404A=)
c.343A= (p.Lys115=)
c.61-6404A= (n.61-6404A=)
c.442-6404A= (n.442-6404A=)
2g.233760630A>CCA351066466UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6404A>C (n.856-6404A>C)
c.868-6404A>C (n.868-6404A>C)
c.862-6404A>C (n.862-6404A>C)
c.343A>C (p.Lys115Gln)
c.61-6404A>C (n.61-6404A>C)
c.442-6404A>C (n.442-6404A>C)
2g.233760630A>GCA2179809UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6404A>G (n.856-6404A>G)
c.868-6404A>G (n.868-6404A>G)
c.862-6404A>G (n.862-6404A>G)
c.343A>G (p.Lys115Glu)
c.61-6404A>G (n.61-6404A>G)
c.442-6404A>G (n.442-6404A>G)
 dbSNP ExAC gnomAD v4
2g.233760630A>TCA351066467UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6404A>T (n.856-6404A>T)
c.868-6404A>T (n.868-6404A>T)
c.862-6404A>T (n.862-6404A>T)
c.343A>T (p.Lys115Ter)
c.61-6404A>T (n.61-6404A>T)
c.442-6404A>T (n.442-6404A>T)
2g.233760631A>CCA351066468UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6403A>C (n.856-6403A>C)
c.868-6403A>C (n.868-6403A>C)
c.862-6403A>C (n.862-6403A>C)
c.344A>C (p.Lys115Thr)
c.61-6403A>C (n.61-6403A>C)
c.442-6403A>C (n.442-6403A>C)
2g.233760631A>GCA351066469UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6403A>G (n.856-6403A>G)
c.868-6403A>G (n.868-6403A>G)
c.862-6403A>G (n.862-6403A>G)
c.344A>G (p.Lys115Arg)
c.61-6403A>G (n.61-6403A>G)
c.442-6403A>G (n.442-6403A>G)
2g.233760631A>TCA351066470UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6403A>T (n.856-6403A>T)
c.868-6403A>T (n.868-6403A>T)
c.862-6403A>T (n.862-6403A>T)
c.344A>T (p.Lys115Ile)
c.61-6403A>T (n.61-6403A>T)
c.442-6403A>T (n.442-6403A>T)
2g.233760632A=CA1335889273UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6402A= (n.856-6402A=)
c.868-6402A= (n.868-6402A=)
c.862-6402A= (n.862-6402A=)
c.345A= (p.Lys115=)
c.61-6402A= (n.61-6402A=)
c.442-6402A= (n.442-6402A=)
2g.233760632A>CCA2179810UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6402A>C (n.856-6402A>C)
c.868-6402A>C (n.868-6402A>C)
c.862-6402A>C (n.862-6402A>C)
c.345A>C (p.Lys115Asn)
c.61-6402A>C (n.61-6402A>C)
c.442-6402A>C (n.442-6402A>C)
 dbSNP ExAC
2g.233760632A>GCA431960342UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6402A>G (n.856-6402A>G)
c.868-6402A>G (n.868-6402A>G)
c.862-6402A>G (n.862-6402A>G)
c.345A>G (p.Lys115=)
c.61-6402A>G (n.61-6402A>G)
c.442-6402A>G (n.442-6402A>G)
2g.233760632A>TCA351066471UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6402A>T (n.856-6402A>T)
c.868-6402A>T (n.868-6402A>T)
c.862-6402A>T (n.862-6402A>T)
c.345A>T (p.Lys115Asn)
c.61-6402A>T (n.61-6402A>T)
c.442-6402A>T (n.442-6402A>T)
 dbSNP gnomAD v2
2g.233760633A=CA1335889275UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6401A= (n.856-6401A=)
c.868-6401A= (n.868-6401A=)
c.862-6401A= (n.862-6401A=)
c.346A= (p.Ile116=)
c.61-6401A= (n.61-6401A=)
c.442-6401A= (n.442-6401A=)
2g.233760633A>CCA351066472UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6401A>C (n.856-6401A>C)
c.868-6401A>C (n.868-6401A>C)
c.862-6401A>C (n.862-6401A>C)
c.346A>C (p.Ile116Leu)
c.61-6401A>C (n.61-6401A>C)
c.442-6401A>C (n.442-6401A>C)
2g.233760633A>GCA351066474UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6401A>G (n.856-6401A>G)
c.868-6401A>G (n.868-6401A>G)
c.862-6401A>G (n.862-6401A>G)
c.346A>G (p.Ile116Val)
c.61-6401A>G (n.61-6401A>G)
c.442-6401A>G (n.442-6401A>G)
 dbSNP
2g.233760633A>TCA351066473UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6401A>T (n.856-6401A>T)
c.868-6401A>T (n.868-6401A>T)
c.862-6401A>T (n.862-6401A>T)
c.346A>T (p.Ile116Leu)
c.61-6401A>T (n.61-6401A>T)
c.442-6401A>T (n.442-6401A>T)
2g.233760634T>ACA67589812UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6400T>A (n.856-6400T>A)
c.868-6400T>A (n.868-6400T>A)
c.862-6400T>A (n.862-6400T>A)
c.347T>A (p.Ile116Lys)
c.61-6400T>A (n.61-6400T>A)
c.442-6400T>A (n.442-6400T>A)
 dbSNP gnomAD v2 COSMIC
2g.233760634T>CCA351066475UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6400T>C (n.856-6400T>C)
c.868-6400T>C (n.868-6400T>C)
c.862-6400T>C (n.862-6400T>C)
c.347T>C (p.Ile116Thr)
c.61-6400T>C (n.61-6400T>C)
c.442-6400T>C (n.442-6400T>C)
2g.233760634T>GCA351066476UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6400T>G (n.856-6400T>G)
c.868-6400T>G (n.868-6400T>G)
c.862-6400T>G (n.862-6400T>G)
c.347T>G (p.Ile116Arg)
c.61-6400T>G (n.61-6400T>G)
c.442-6400T>G (n.442-6400T>G)
2g.233760634T=CA1335889278UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6400T= (n.856-6400T=)
c.868-6400T= (n.868-6400T=)
c.862-6400T= (n.862-6400T=)
c.347T= (p.Ile116=)
c.61-6400T= (n.61-6400T=)
c.442-6400T= (n.442-6400T=)
2g.233760635A=CA1335889284UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6399A= (n.856-6399A=)
c.868-6399A= (n.868-6399A=)
c.862-6399A= (n.862-6399A=)
c.348A= (p.Ile116=)
c.61-6399A= (n.61-6399A=)
c.442-6399A= (n.442-6399A=)
2g.233760635A>CCA431960344UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6399A>C (n.856-6399A>C)
c.868-6399A>C (n.868-6399A>C)
c.862-6399A>C (n.862-6399A>C)
c.348A>C (p.Ile116=)
c.61-6399A>C (n.61-6399A>C)
c.442-6399A>C (n.442-6399A>C)
2g.233760635A>GCA351066477UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6399A>G (n.856-6399A>G)
c.868-6399A>G (n.868-6399A>G)
c.862-6399A>G (n.862-6399A>G)
c.348A>G (p.Ile116Met)
c.61-6399A>G (n.61-6399A>G)
c.442-6399A>G (n.442-6399A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.233760635A>TCA431960345UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6399A>T (n.856-6399A>T)
c.868-6399A>T (n.868-6399A>T)
c.862-6399A>T (n.862-6399A>T)
c.348A>T (p.Ile116=)
c.61-6399A>T (n.61-6399A>T)
c.442-6399A>T (n.442-6399A>T)
2g.233760640dupCA2179811UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6394dup (n.856-6394dup)
c.868-6394dup (n.868-6394dup)
c.862-6394dup (n.862-6394dup)
c.353dup (p.Asp119GlyfsTer28)
c.61-6394dup (n.61-6394dup)
c.442-6394dup (n.442-6394dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760640delCA2577284378UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6394del (n.856-6394del)
c.868-6394del (n.868-6394del)
c.862-6394del (n.862-6394del)
c.353del (p.Lys118ArgfsTer?)
c.61-6394del (n.61-6394del)
c.442-6394del (n.442-6394del)
2g.233760636A=CA1335889286UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6398A= (n.856-6398A=)
c.868-6398A= (n.868-6398A=)
c.862-6398A= (n.862-6398A=)
c.349A= (p.Lys117=)
c.61-6398A= (n.61-6398A=)
c.442-6398A= (n.442-6398A=)
2g.233760636A>CCA351066478UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6398A>C (n.856-6398A>C)
c.868-6398A>C (n.868-6398A>C)
c.862-6398A>C (n.862-6398A>C)
c.349A>C (p.Lys117Gln)
c.61-6398A>C (n.61-6398A>C)
c.442-6398A>C (n.442-6398A>C)
2g.233760636A>GCA351066479UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6398A>G (n.856-6398A>G)
c.868-6398A>G (n.868-6398A>G)
c.862-6398A>G (n.862-6398A>G)
c.349A>G (p.Lys117Glu)
c.61-6398A>G (n.61-6398A>G)
c.442-6398A>G (n.442-6398A>G)
 dbSNP gnomAD v4
2g.233760636A>TCA351066480UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6398A>T (n.856-6398A>T)
c.868-6398A>T (n.868-6398A>T)
c.862-6398A>T (n.862-6398A>T)
c.349A>T (p.Lys117Ter)
c.61-6398A>T (n.61-6398A>T)
c.442-6398A>T (n.442-6398A>T)
2g.233760637A=CA1335889288UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6397A= (n.856-6397A=)
c.868-6397A= (n.868-6397A=)
c.862-6397A= (n.862-6397A=)
c.350A= (p.Lys117=)
c.61-6397A= (n.61-6397A=)
c.442-6397A= (n.442-6397A=)
2g.233760637A>CCA351066481UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6397A>C (n.856-6397A>C)
c.868-6397A>C (n.868-6397A>C)
c.862-6397A>C (n.862-6397A>C)
c.350A>C (p.Lys117Thr)
c.61-6397A>C (n.61-6397A>C)
c.442-6397A>C (n.442-6397A>C)
 COSMIC
2g.233760637A>GCA351066482UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6397A>G (n.856-6397A>G)
c.868-6397A>G (n.868-6397A>G)
c.862-6397A>G (n.862-6397A>G)
c.350A>G (p.Lys117Arg)
c.61-6397A>G (n.61-6397A>G)
c.442-6397A>G (n.442-6397A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.233760637A>TCA351066483UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6397A>T (n.856-6397A>T)
c.868-6397A>T (n.868-6397A>T)
c.862-6397A>T (n.862-6397A>T)
c.350A>T (p.Lys117Ile)
c.61-6397A>T (n.61-6397A>T)
c.442-6397A>T (n.442-6397A>T)
2g.233760638A=CA1335889290UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6396A= (n.856-6396A=)
c.868-6396A= (n.868-6396A=)
c.862-6396A= (n.862-6396A=)
c.351A= (p.Lys117=)
c.61-6396A= (n.61-6396A=)
c.442-6396A= (n.442-6396A=)
2g.233760638A>CCA2179812UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6396A>C (n.856-6396A>C)
c.868-6396A>C (n.868-6396A>C)
c.862-6396A>C (n.862-6396A>C)
c.351A>C (p.Lys117Asn)
c.61-6396A>C (n.61-6396A>C)
c.442-6396A>C (n.442-6396A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760638A>GCA431960347UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6396A>G (n.856-6396A>G)
c.868-6396A>G (n.868-6396A>G)
c.862-6396A>G (n.862-6396A>G)
c.351A>G (p.Lys117=)
c.61-6396A>G (n.61-6396A>G)
c.442-6396A>G (n.442-6396A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760638A>TCA351066484UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6396A>T (n.856-6396A>T)
c.868-6396A>T (n.868-6396A>T)
c.862-6396A>T (n.862-6396A>T)
c.351A>T (p.Lys117Asn)
c.61-6396A>T (n.61-6396A>T)
c.442-6396A>T (n.442-6396A>T)
2g.233760639A>CCA351066487UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6395A>C (n.856-6395A>C)
c.868-6395A>C (n.868-6395A>C)
c.862-6395A>C (n.862-6395A>C)
c.352A>C (p.Lys118Gln)
c.61-6395A>C (n.61-6395A>C)
c.442-6395A>C (n.442-6395A>C)
2g.233760639A>GCA351066486UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6395A>G (n.856-6395A>G)
c.868-6395A>G (n.868-6395A>G)
c.862-6395A>G (n.862-6395A>G)
c.352A>G (p.Lys118Glu)
c.61-6395A>G (n.61-6395A>G)
c.442-6395A>G (n.442-6395A>G)
 gnomAD v4
2g.233760639A>TCA351066485UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6395A>T (n.856-6395A>T)
c.868-6395A>T (n.868-6395A>T)
c.862-6395A>T (n.862-6395A>T)
c.352A>T (p.Lys118Ter)
c.61-6395A>T (n.61-6395A>T)
c.442-6395A>T (n.442-6395A>T)
2g.233760640A>CCA351066488UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6394A>C (n.856-6394A>C)
c.868-6394A>C (n.868-6394A>C)
c.862-6394A>C (n.862-6394A>C)
c.353A>C (p.Lys118Thr)
c.61-6394A>C (n.61-6394A>C)
c.442-6394A>C (n.442-6394A>C)
2g.233760640A>GCA351066489UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6394A>G (n.856-6394A>G)
c.868-6394A>G (n.868-6394A>G)
c.862-6394A>G (n.862-6394A>G)
c.353A>G (p.Lys118Arg)
c.61-6394A>G (n.61-6394A>G)
c.442-6394A>G (n.442-6394A>G)
2g.233760640A>TCA351066490UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6394A>T (n.856-6394A>T)
c.868-6394A>T (n.868-6394A>T)
c.862-6394A>T (n.862-6394A>T)
c.353A>T (p.Lys118Met)
c.61-6394A>T (n.61-6394A>T)
c.442-6394A>T (n.442-6394A>T)
2g.233760641G>ACA431960349UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6393G>A (n.856-6393G>A)
c.868-6393G>A (n.868-6393G>A)
c.862-6393G>A (n.862-6393G>A)
c.354G>A (p.Lys118=)
c.61-6393G>A (n.61-6393G>A)
c.442-6393G>A (n.442-6393G>A)
2g.233760641G>CCA351066491UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6393G>C (n.856-6393G>C)
c.868-6393G>C (n.868-6393G>C)
c.862-6393G>C (n.862-6393G>C)
c.354G>C (p.Lys118Asn)
c.61-6393G>C (n.61-6393G>C)
c.442-6393G>C (n.442-6393G>C)
2g.233760641G=CA1335889292UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6393G= (n.856-6393G=)
c.868-6393G= (n.868-6393G=)
c.862-6393G= (n.862-6393G=)
c.354G= (p.Lys118=)
c.61-6393G= (n.61-6393G=)
c.442-6393G= (n.442-6393G=)
2g.233760641G>TCA2179813UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6393G>T (n.856-6393G>T)
c.868-6393G>T (n.868-6393G>T)
c.862-6393G>T (n.862-6393G>T)
c.354G>T (p.Lys118Asn)
c.61-6393G>T (n.61-6393G>T)
c.442-6393G>T (n.442-6393G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760642G>ACA351066492UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6392G>A (n.856-6392G>A)
c.868-6392G>A (n.868-6392G>A)
c.862-6392G>A (n.862-6392G>A)
c.355G>A (p.Asp119Asn)
c.61-6392G>A (n.61-6392G>A)
c.442-6392G>A (n.442-6392G>A)
 ClinVar
2g.233760642G>CCA351066493UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6392G>C (n.856-6392G>C)
c.868-6392G>C (n.868-6392G>C)
c.862-6392G>C (n.862-6392G>C)
c.355G>C (p.Asp119His)
c.61-6392G>C (n.61-6392G>C)
c.442-6392G>C (n.442-6392G>C)
2g.233760642G>TCA351066494UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6392G>T (n.856-6392G>T)
c.868-6392G>T (n.868-6392G>T)
c.862-6392G>T (n.862-6392G>T)
c.355G>T (p.Asp119Tyr)
c.61-6392G>T (n.61-6392G>T)
c.442-6392G>T (n.442-6392G>T)
2g.233760643A=CA1335889294UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6391A= (n.856-6391A=)
c.868-6391A= (n.868-6391A=)
c.862-6391A= (n.862-6391A=)
c.356A= (p.Asp119=)
c.61-6391A= (n.61-6391A=)
c.442-6391A= (n.442-6391A=)
2g.233760643A>CCA351066495UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6391A>C (n.856-6391A>C)
c.868-6391A>C (n.868-6391A>C)
c.862-6391A>C (n.862-6391A>C)
c.356A>C (p.Asp119Ala)
c.61-6391A>C (n.61-6391A>C)
c.442-6391A>C (n.442-6391A>C)
2g.233760643A>GCA2179814UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6391A>G (n.856-6391A>G)
c.868-6391A>G (n.868-6391A>G)
c.862-6391A>G (n.862-6391A>G)
c.356A>G (p.Asp119Gly)
c.61-6391A>G (n.61-6391A>G)
c.442-6391A>G (n.442-6391A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.233760643A>TCA351066496UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6391A>T (n.856-6391A>T)
c.868-6391A>T (n.868-6391A>T)
c.862-6391A>T (n.862-6391A>T)
c.356A>T (p.Asp119Val)
c.61-6391A>T (n.61-6391A>T)
c.442-6391A>T (n.442-6391A>T)
2g.233760644C>ACA351066497UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6390C>A (n.856-6390C>A)
c.868-6390C>A (n.868-6390C>A)
c.862-6390C>A (n.862-6390C>A)
c.357C>A (p.Asp119Glu)
c.61-6390C>A (n.61-6390C>A)
c.442-6390C>A (n.442-6390C>A)
2g.233760644C>GCA351066498UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6390C>G (n.856-6390C>G)
c.868-6390C>G (n.868-6390C>G)
c.862-6390C>G (n.862-6390C>G)
c.357C>G (p.Asp119Glu)
c.61-6390C>G (n.61-6390C>G)
c.442-6390C>G (n.442-6390C>G)
2g.233760644C>TCA431960379UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6390C>T (n.856-6390C>T)
c.868-6390C>T (n.868-6390C>T)
c.862-6390C>T (n.862-6390C>T)
c.357C>T (p.Asp119=)
c.61-6390C>T (n.61-6390C>T)
c.442-6390C>T (n.442-6390C>T)
2g.233760646_233760647delCA2586965606UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6388_856-6387del (n.856-6388_856-6387del)
c.868-6388_868-6387del (n.868-6388_868-6387del)
c.862-6388_862-6387del (n.862-6388_862-6387del)
c.359_360del (p.Ser120CysfsTer26)
c.61-6388_61-6387del (n.61-6388_61-6387del)
c.442-6388_442-6387del (n.442-6388_442-6387del)
 gnomAD v4
2g.233760645T>ACA2179815UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6389T>A (n.856-6389T>A)
c.868-6389T>A (n.868-6389T>A)
c.862-6389T>A (n.862-6389T>A)
c.358T>A (p.Ser120Thr)
c.61-6389T>A (n.61-6389T>A)
c.442-6389T>A (n.442-6389T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760645T>CCA351066500UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6389T>C (n.856-6389T>C)
c.868-6389T>C (n.868-6389T>C)
c.862-6389T>C (n.862-6389T>C)
c.358T>C (p.Ser120Pro)
c.61-6389T>C (n.61-6389T>C)
c.442-6389T>C (n.442-6389T>C)
 ClinVar dbSNP
2g.233760645T>GCA351066499UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6389T>G (n.856-6389T>G)
c.868-6389T>G (n.868-6389T>G)
c.862-6389T>G (n.862-6389T>G)
c.358T>G (p.Ser120Ala)
c.61-6389T>G (n.61-6389T>G)
c.442-6389T>G (n.442-6389T>G)
2g.233760645T=CA1335889296UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6389T= (n.856-6389T=)
c.868-6389T= (n.868-6389T=)
c.862-6389T= (n.862-6389T=)
c.358T= (p.Ser120=)
c.61-6389T= (n.61-6389T=)
c.442-6389T= (n.442-6389T=)
2g.233760646C>ACA351066501UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6388C>A (n.856-6388C>A)
c.868-6388C>A (n.868-6388C>A)
c.862-6388C>A (n.862-6388C>A)
c.359C>A (p.Ser120Tyr)
c.61-6388C>A (n.61-6388C>A)
c.442-6388C>A (n.442-6388C>A)
2g.233760646C>GCA351066502UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6388C>G (n.856-6388C>G)
c.868-6388C>G (n.868-6388C>G)
c.862-6388C>G (n.862-6388C>G)
c.359C>G (p.Ser120Cys)
c.61-6388C>G (n.61-6388C>G)
c.442-6388C>G (n.442-6388C>G)
2g.233760646C>TCA351066503UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6388C>T (n.856-6388C>T)
c.868-6388C>T (n.868-6388C>T)
c.862-6388C>T (n.862-6388C>T)
c.359C>T (p.Ser120Phe)
c.61-6388C>T (n.61-6388C>T)
c.442-6388C>T (n.442-6388C>T)
2g.233760647T>ACA431960380UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6387T>A (n.856-6387T>A)
c.868-6387T>A (n.868-6387T>A)
c.862-6387T>A (n.862-6387T>A)
c.360T>A (p.Ser120=)
c.61-6387T>A (n.61-6387T>A)
c.442-6387T>A (n.442-6387T>A)
2g.233760647T>CCA431960381UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6387T>C (n.856-6387T>C)
c.868-6387T>C (n.868-6387T>C)
c.862-6387T>C (n.862-6387T>C)
c.360T>C (p.Ser120=)
c.61-6387T>C (n.61-6387T>C)
c.442-6387T>C (n.442-6387T>C)
2g.233760647T>GCA431960382UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6387T>G (n.856-6387T>G)
c.868-6387T>G (n.868-6387T>G)
c.862-6387T>G (n.862-6387T>G)
c.360T>G (p.Ser120=)
c.61-6387T>G (n.61-6387T>G)
c.442-6387T>G (n.442-6387T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.233760647T=CA1335889298UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6387T= (n.856-6387T=)
c.868-6387T= (n.868-6387T=)
c.862-6387T= (n.862-6387T=)
c.360T= (p.Ser120=)
c.61-6387T= (n.61-6387T=)
c.442-6387T= (n.442-6387T=)
2g.233760648G>ACA351066504UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6386G>A (n.856-6386G>A)
c.868-6386G>A (n.868-6386G>A)
c.862-6386G>A (n.862-6386G>A)
c.361G>A (p.Ala121Thr)
c.61-6386G>A (n.61-6386G>A)
c.442-6386G>A (n.442-6386G>A)
2g.233760648G>CCA351066505UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6386G>C (n.856-6386G>C)
c.868-6386G>C (n.868-6386G>C)
c.862-6386G>C (n.862-6386G>C)
c.361G>C (p.Ala121Pro)
c.61-6386G>C (n.61-6386G>C)
c.442-6386G>C (n.442-6386G>C)
 ClinVar dbSNP gnomAD v4
2g.233760648G=CA1335889301UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6386G= (n.856-6386G=)
c.868-6386G= (n.868-6386G=)
c.862-6386G= (n.862-6386G=)
c.361G= (p.Ala121=)
c.61-6386G= (n.61-6386G=)
c.442-6386G= (n.442-6386G=)
2g.233760648G>TCA351066506UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6386G>T (n.856-6386G>T)
c.868-6386G>T (n.868-6386G>T)
c.862-6386G>T (n.862-6386G>T)
c.361G>T (p.Ala121Ser)
c.61-6386G>T (n.61-6386G>T)
c.442-6386G>T (n.442-6386G>T)
2g.233760649C>ACA351066507UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6385C>A (n.856-6385C>A)
c.868-6385C>A (n.868-6385C>A)
c.862-6385C>A (n.862-6385C>A)
c.362C>A (p.Ala121Asp)
c.61-6385C>A (n.61-6385C>A)
c.442-6385C>A (n.442-6385C>A)
2g.233760649C>GCA351066508UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6385C>G (n.856-6385C>G)
c.868-6385C>G (n.868-6385C>G)
c.862-6385C>G (n.862-6385C>G)
c.362C>G (p.Ala121Gly)
c.61-6385C>G (n.61-6385C>G)
c.442-6385C>G (n.442-6385C>G)
2g.233760649C>TCA351066509UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6385C>T (n.856-6385C>T)
c.868-6385C>T (n.868-6385C>T)
c.862-6385C>T (n.862-6385C>T)
c.362C>T (p.Ala121Val)
c.61-6385C>T (n.61-6385C>T)
c.442-6385C>T (n.442-6385C>T)
 gnomAD v4
2g.233760650T>ACA431960385UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6384T>A (n.856-6384T>A)
c.868-6384T>A (n.868-6384T>A)
c.862-6384T>A (n.862-6384T>A)
c.363T>A (p.Ala121=)
c.61-6384T>A (n.61-6384T>A)
c.442-6384T>A (n.442-6384T>A)
2g.233760650T>CCA431960384UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6384T>C (n.856-6384T>C)
c.868-6384T>C (n.868-6384T>C)
c.862-6384T>C (n.862-6384T>C)
c.363T>C (p.Ala121=)
c.61-6384T>C (n.61-6384T>C)
c.442-6384T>C (n.442-6384T>C)
2g.233760650T>GCA431960383UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6384T>G (n.856-6384T>G)
c.868-6384T>G (n.868-6384T>G)
c.862-6384T>G (n.862-6384T>G)
c.363T>G (p.Ala121=)
c.61-6384T>G (n.61-6384T>G)
c.442-6384T>G (n.442-6384T>G)
2g.233760651A=CA1335889303UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6383A= (n.856-6383A=)
c.868-6383A= (n.868-6383A=)
c.862-6383A= (n.862-6383A=)
c.364A= (p.Met122=)
c.61-6383A= (n.61-6383A=)
c.442-6383A= (n.442-6383A=)
2g.233760651A>CCA351066510UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6383A>C (n.856-6383A>C)
c.868-6383A>C (n.868-6383A>C)
c.862-6383A>C (n.862-6383A>C)
c.364A>C (p.Met122Leu)
c.61-6383A>C (n.61-6383A>C)
c.442-6383A>C (n.442-6383A>C)
2g.233760651A>GCA351066511UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6383A>G (n.856-6383A>G)
c.868-6383A>G (n.868-6383A>G)
c.862-6383A>G (n.862-6383A>G)
c.364A>G (p.Met122Val)
c.61-6383A>G (n.61-6383A>G)
c.442-6383A>G (n.442-6383A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.233760651A>TCA351066512UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6383A>T (n.856-6383A>T)
c.868-6383A>T (n.868-6383A>T)
c.862-6383A>T (n.862-6383A>T)
c.364A>T (p.Met122Leu)
c.61-6383A>T (n.61-6383A>T)
c.442-6383A>T (n.442-6383A>T)
2g.233760652T>ACA351066515UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6382T>A (n.856-6382T>A)
c.868-6382T>A (n.868-6382T>A)
c.862-6382T>A (n.862-6382T>A)
c.365T>A (p.Met122Lys)
c.61-6382T>A (n.61-6382T>A)
c.442-6382T>A (n.442-6382T>A)
2g.233760652T>CCA351066513UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6382T>C (n.856-6382T>C)
c.868-6382T>C (n.868-6382T>C)
c.862-6382T>C (n.862-6382T>C)
c.365T>C (p.Met122Thr)
c.61-6382T>C (n.61-6382T>C)
c.442-6382T>C (n.442-6382T>C)
2g.233760652T>GCA351066514UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6382T>G (n.856-6382T>G)
c.868-6382T>G (n.868-6382T>G)
c.862-6382T>G (n.862-6382T>G)
c.365T>G (p.Met122Arg)
c.61-6382T>G (n.61-6382T>G)
c.442-6382T>G (n.442-6382T>G)
2g.233760653G>ACA351066516UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6381G>A (n.856-6381G>A)
c.868-6381G>A (n.868-6381G>A)
c.862-6381G>A (n.862-6381G>A)
c.366G>A (p.Met122Ile)
c.61-6381G>A (n.61-6381G>A)
c.442-6381G>A (n.442-6381G>A)
2g.233760653G>CCA351066517UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6381G>C (n.856-6381G>C)
c.868-6381G>C (n.868-6381G>C)
c.862-6381G>C (n.862-6381G>C)
c.366G>C (p.Met122Ile)
c.61-6381G>C (n.61-6381G>C)
c.442-6381G>C (n.442-6381G>C)
2g.233760653G>TCA351066518UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6381G>T (n.856-6381G>T)
c.868-6381G>T (n.868-6381G>T)
c.862-6381G>T (n.862-6381G>T)
c.366G>T (p.Met122Ile)
c.61-6381G>T (n.61-6381G>T)
c.442-6381G>T (n.442-6381G>T)
2g.233760654C>ACA351066519UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6380C>A (n.856-6380C>A)
c.868-6380C>A (n.868-6380C>A)
c.862-6380C>A (n.862-6380C>A)
c.367C>A (p.Leu123Ile)
c.61-6380C>A (n.61-6380C>A)
c.442-6380C>A (n.442-6380C>A)
2g.233760654C=CA1335889305UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6380C= (n.856-6380C=)
c.868-6380C= (n.868-6380C=)
c.862-6380C= (n.862-6380C=)
c.367C= (p.Leu123=)
c.61-6380C= (n.61-6380C=)
c.442-6380C= (n.442-6380C=)
2g.233760654C>GCA351066520UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6380C>G (n.856-6380C>G)
c.868-6380C>G (n.868-6380C>G)
c.862-6380C>G (n.862-6380C>G)
c.367C>G (p.Leu123Val)
c.61-6380C>G (n.61-6380C>G)
c.442-6380C>G (n.442-6380C>G)
2g.233760654C>TCA351066521UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6380C>T (n.856-6380C>T)
c.868-6380C>T (n.868-6380C>T)
c.862-6380C>T (n.862-6380C>T)
c.367C>T (p.Leu123Phe)
c.61-6380C>T (n.61-6380C>T)
c.442-6380C>T (n.442-6380C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.233760655T>ACA351066522UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6379T>A (n.856-6379T>A)
c.868-6379T>A (n.868-6379T>A)
c.862-6379T>A (n.862-6379T>A)
c.368T>A (p.Leu123His)
c.61-6379T>A (n.61-6379T>A)
c.442-6379T>A (n.442-6379T>A)
2g.233760655T>CCA351066523UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6379T>C (n.856-6379T>C)
c.868-6379T>C (n.868-6379T>C)
c.862-6379T>C (n.862-6379T>C)
c.368T>C (p.Leu123Pro)
c.61-6379T>C (n.61-6379T>C)
c.442-6379T>C (n.442-6379T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.233760655T>GCA351066524UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6379T>G (n.856-6379T>G)
c.868-6379T>G (n.868-6379T>G)
c.862-6379T>G (n.862-6379T>G)
c.368T>G (p.Leu123Arg)
c.61-6379T>G (n.61-6379T>G)
c.442-6379T>G (n.442-6379T>G)
2g.233760655T=CA1335889308UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6379T= (n.856-6379T=)
c.868-6379T= (n.868-6379T=)
c.862-6379T= (n.862-6379T=)
c.368T= (p.Leu123=)
c.61-6379T= (n.61-6379T=)
c.442-6379T= (n.442-6379T=)
2g.233760656T>ACA431960388UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6378T>A (n.856-6378T>A)
c.868-6378T>A (n.868-6378T>A)
c.862-6378T>A (n.862-6378T>A)
c.369T>A (p.Leu123=)
c.61-6378T>A (n.61-6378T>A)
c.442-6378T>A (n.442-6378T>A)
2g.233760656T>CCA431960386UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6378T>C (n.856-6378T>C)
c.868-6378T>C (n.868-6378T>C)
c.862-6378T>C (n.862-6378T>C)
c.369T>C (p.Leu123=)
c.61-6378T>C (n.61-6378T>C)
c.442-6378T>C (n.442-6378T>C)
 dbSNP
2g.233760656T>GCA431960387UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6378T>G (n.856-6378T>G)
c.868-6378T>G (n.868-6378T>G)
c.862-6378T>G (n.862-6378T>G)
c.369T>G (p.Leu123=)
c.61-6378T>G (n.61-6378T>G)
c.442-6378T>G (n.442-6378T>G)
2g.233760657T>ACA351066525UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6377T>A (n.856-6377T>A)
c.868-6377T>A (n.868-6377T>A)
c.862-6377T>A (n.862-6377T>A)
c.370T>A (p.Leu124Met)
c.61-6377T>A (n.61-6377T>A)
c.442-6377T>A (n.442-6377T>A)
2g.233760657T>CCA431960389UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6377T>C (n.856-6377T>C)
c.868-6377T>C (n.868-6377T>C)
c.862-6377T>C (n.862-6377T>C)
c.370T>C (p.Leu124=)
c.61-6377T>C (n.61-6377T>C)
c.442-6377T>C (n.442-6377T>C)
2g.233760657T>GCA351066526UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6377T>G (n.856-6377T>G)
c.868-6377T>G (n.868-6377T>G)
c.862-6377T>G (n.862-6377T>G)
c.370T>G (p.Leu124Val)
c.61-6377T>G (n.61-6377T>G)
c.442-6377T>G (n.442-6377T>G)
 gnomAD v4
2g.233760658T>ACA351066529UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6376T>A (n.856-6376T>A)
c.868-6376T>A (n.868-6376T>A)
c.862-6376T>A (n.862-6376T>A)
c.371T>A (p.Leu124Ter)
c.61-6376T>A (n.61-6376T>A)
c.442-6376T>A (n.442-6376T>A)
2g.233760658T>CCA351066528UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6376T>C (n.856-6376T>C)
c.868-6376T>C (n.868-6376T>C)
c.862-6376T>C (n.862-6376T>C)
c.371T>C (p.Leu124Ser)
c.61-6376T>C (n.61-6376T>C)
c.442-6376T>C (n.442-6376T>C)
2g.233760658T>GCA351066527UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6376T>G (n.856-6376T>G)
c.868-6376T>G (n.868-6376T>G)
c.862-6376T>G (n.862-6376T>G)
c.371T>G (p.Leu124Trp)
c.61-6376T>G (n.61-6376T>G)
c.442-6376T>G (n.442-6376T>G)
2g.233760659G>ACA67589842UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6375G>A (n.856-6375G>A)
c.868-6375G>A (n.868-6375G>A)
c.862-6375G>A (n.862-6375G>A)
c.372G>A (p.Leu124=)
c.61-6375G>A (n.61-6375G>A)
c.442-6375G>A (n.442-6375G>A)
 dbSNP
2g.233760659G>CCA351066530UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6375G>C (n.856-6375G>C)
c.868-6375G>C (n.868-6375G>C)
c.862-6375G>C (n.862-6375G>C)
c.372G>C (p.Leu124Phe)
c.61-6375G>C (n.61-6375G>C)
c.442-6375G>C (n.442-6375G>C)
2g.233760659G=CA1335889310UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6375G= (n.856-6375G=)
c.868-6375G= (n.868-6375G=)
c.862-6375G= (n.862-6375G=)
c.372G= (p.Leu124=)
c.61-6375G= (n.61-6375G=)
c.442-6375G= (n.442-6375G=)
2g.233760659G>TCA2179816UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6375G>T (n.856-6375G>T)
c.868-6375G>T (n.868-6375G>T)
c.862-6375G>T (n.862-6375G>T)
c.372G>T (p.Leu124Phe)
c.61-6375G>T (n.61-6375G>T)
c.442-6375G>T (n.442-6375G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760660T>ACA351066531UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6374T>A (n.856-6374T>A)
c.868-6374T>A (n.868-6374T>A)
c.862-6374T>A (n.862-6374T>A)
c.373T>A (p.Ser125Thr)
c.61-6374T>A (n.61-6374T>A)
c.442-6374T>A (n.442-6374T>A)
2g.233760660T>CCA351066532UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6374T>C (n.856-6374T>C)
c.868-6374T>C (n.868-6374T>C)
c.862-6374T>C (n.862-6374T>C)
c.373T>C (p.Ser125Pro)
c.61-6374T>C (n.61-6374T>C)
c.442-6374T>C (n.442-6374T>C)
 gnomAD v4
2g.233760660T>GCA351066533UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6374T>G (n.856-6374T>G)
c.868-6374T>G (n.868-6374T>G)
c.862-6374T>G (n.862-6374T>G)
c.373T>G (p.Ser125Ala)
c.61-6374T>G (n.61-6374T>G)
c.442-6374T>G (n.442-6374T>G)
2g.233760661C>ACA351066534UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6373C>A (n.856-6373C>A)
c.868-6373C>A (n.868-6373C>A)
c.862-6373C>A (n.862-6373C>A)
c.374C>A (p.Ser125Tyr)
c.61-6373C>A (n.61-6373C>A)
c.442-6373C>A (n.442-6373C>A)
2g.233760661C>GCA351066535UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6373C>G (n.856-6373C>G)
c.868-6373C>G (n.868-6373C>G)
c.862-6373C>G (n.862-6373C>G)
c.374C>G (p.Ser125Cys)
c.61-6373C>G (n.61-6373C>G)
c.442-6373C>G (n.442-6373C>G)
2g.233760661C>TCA351066536UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6373C>T (n.856-6373C>T)
c.868-6373C>T (n.868-6373C>T)
c.862-6373C>T (n.862-6373C>T)
c.374C>T (p.Ser125Phe)
c.61-6373C>T (n.61-6373C>T)
c.442-6373C>T (n.442-6373C>T)
2g.233760662T>ACA431960391UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6372T>A (n.856-6372T>A)
c.868-6372T>A (n.868-6372T>A)
c.862-6372T>A (n.862-6372T>A)
c.375T>A (p.Ser125=)
c.61-6372T>A (n.61-6372T>A)
c.442-6372T>A (n.442-6372T>A)
2g.233760662T>CCA431960390UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6372T>C (n.856-6372T>C)
c.868-6372T>C (n.868-6372T>C)
c.862-6372T>C (n.862-6372T>C)
c.375T>C (p.Ser125=)
c.61-6372T>C (n.61-6372T>C)
c.442-6372T>C (n.442-6372T>C)
2g.233760662T>GCA431960392UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6372T>G (n.856-6372T>G)
c.868-6372T>G (n.868-6372T>G)
c.862-6372T>G (n.862-6372T>G)
c.375T>G (p.Ser125=)
c.61-6372T>G (n.61-6372T>G)
c.442-6372T>G (n.442-6372T>G)
2g.233760663G>ACA351066537UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6371G>A (n.856-6371G>A)
c.868-6371G>A (n.868-6371G>A)
c.862-6371G>A (n.862-6371G>A)
c.376G>A (p.Gly126Ser)
c.61-6371G>A (n.61-6371G>A)
c.442-6371G>A (n.442-6371G>A)
 gnomAD v4
2g.233760663G>CCA351066538UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6371G>C (n.856-6371G>C)
c.868-6371G>C (n.868-6371G>C)
c.862-6371G>C (n.862-6371G>C)
c.376G>C (p.Gly126Arg)
c.61-6371G>C (n.61-6371G>C)
c.442-6371G>C (n.442-6371G>C)
2g.233760663G>TCA351066539UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6371G>T (n.856-6371G>T)
c.868-6371G>T (n.868-6371G>T)
c.862-6371G>T (n.862-6371G>T)
c.376G>T (p.Gly126Cys)
c.61-6371G>T (n.61-6371G>T)
c.442-6371G>T (n.442-6371G>T)
2g.233760664G>ACA351066540UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6370G>A (n.856-6370G>A)
c.868-6370G>A (n.868-6370G>A)
c.862-6370G>A (n.862-6370G>A)
c.377G>A (p.Gly126Asp)
c.61-6370G>A (n.61-6370G>A)
c.442-6370G>A (n.442-6370G>A)
2g.233760664G>CCA351066541UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6370G>C (n.856-6370G>C)
c.868-6370G>C (n.868-6370G>C)
c.862-6370G>C (n.862-6370G>C)
c.377G>C (p.Gly126Ala)
c.61-6370G>C (n.61-6370G>C)
c.442-6370G>C (n.442-6370G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.233760664G=CA1335889313UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6370G= (n.856-6370G=)
c.868-6370G= (n.868-6370G=)
c.862-6370G= (n.862-6370G=)
c.377G= (p.Gly126=)
c.61-6370G= (n.61-6370G=)
c.442-6370G= (n.442-6370G=)
2g.233760664G>TCA351066542UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6370G>T (n.856-6370G>T)
c.868-6370G>T (n.868-6370G>T)
c.862-6370G>T (n.862-6370G>T)
c.377G>T (p.Gly126Val)
c.61-6370G>T (n.61-6370G>T)
c.442-6370G>T (n.442-6370G>T)
 gnomAD v4
2g.233760665C>ACA431960394UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6369C>A (n.856-6369C>A)
c.868-6369C>A (n.868-6369C>A)
c.862-6369C>A (n.862-6369C>A)
c.378C>A (p.Gly126=)
c.61-6369C>A (n.61-6369C>A)
c.442-6369C>A (n.442-6369C>A)
2g.233760665C=CA1335889315UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6369C= (n.856-6369C=)
c.868-6369C= (n.868-6369C=)
c.862-6369C= (n.862-6369C=)
c.378C= (p.Gly126=)
c.61-6369C= (n.61-6369C=)
c.442-6369C= (n.442-6369C=)
2g.233760665C>GCA431960393UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6369C>G (n.856-6369C>G)
c.868-6369C>G (n.868-6369C>G)
c.862-6369C>G (n.862-6369C>G)
c.378C>G (p.Gly126=)
c.61-6369C>G (n.61-6369C>G)
c.442-6369C>G (n.442-6369C>G)
2g.233760665C>TCA2179817UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6369C>T (n.856-6369C>T)
c.868-6369C>T (n.868-6369C>T)
c.862-6369C>T (n.862-6369C>T)
c.378C>T (p.Gly126=)
c.61-6369C>T (n.61-6369C>T)
c.442-6369C>T (n.442-6369C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760666T>ACA351066545UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6368T>A (n.856-6368T>A)
c.868-6368T>A (n.868-6368T>A)
c.862-6368T>A (n.862-6368T>A)
c.379T>A (p.Cys127Ser)
c.61-6368T>A (n.61-6368T>A)
c.442-6368T>A (n.442-6368T>A)
2g.233760666T>CCA351066543UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6368T>C (n.856-6368T>C)
c.868-6368T>C (n.868-6368T>C)
c.862-6368T>C (n.862-6368T>C)
c.379T>C (p.Cys127Arg)
c.61-6368T>C (n.61-6368T>C)
c.442-6368T>C (n.442-6368T>C)
2g.233760666T>GCA351066544UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6368T>G (n.856-6368T>G)
c.868-6368T>G (n.868-6368T>G)
c.862-6368T>G (n.862-6368T>G)
c.379T>G (p.Cys127Gly)
c.61-6368T>G (n.61-6368T>G)
c.442-6368T>G (n.442-6368T>G)
2g.233760667G>ACA351066546UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6367G>A (n.856-6367G>A)
c.868-6367G>A (n.868-6367G>A)
c.862-6367G>A (n.862-6367G>A)
c.380G>A (p.Cys127Tyr)
c.61-6367G>A (n.61-6367G>A)
c.442-6367G>A (n.442-6367G>A)
2g.233760667G>CCA67589862UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6367G>C (n.856-6367G>C)
c.868-6367G>C (n.868-6367G>C)
c.862-6367G>C (n.862-6367G>C)
c.380G>C (p.Cys127Ser)
c.61-6367G>C (n.61-6367G>C)
c.442-6367G>C (n.442-6367G>C)
 dbSNP
2g.233760667G=CA1335889317UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6367G= (n.856-6367G=)
c.868-6367G= (n.868-6367G=)
c.862-6367G= (n.862-6367G=)
c.380G= (p.Cys127=)
c.61-6367G= (n.61-6367G=)
c.442-6367G= (n.442-6367G=)
2g.233760667G>TCA351066547UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6367G>T (n.856-6367G>T)
c.868-6367G>T (n.868-6367G>T)
c.862-6367G>T (n.862-6367G>T)
c.380G>T (p.Cys127Phe)
c.61-6367G>T (n.61-6367G>T)
c.442-6367G>T (n.442-6367G>T)
2g.233760667_233760668insGGCA2499215796UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6367_856-6366insGG (n.856-6367_856-6366insGG)
c.868-6367_868-6366insGG (n.868-6367_868-6366insGG)
c.862-6367_862-6366insGG (n.862-6367_862-6366insGG)
c.380_381insGG (p.Cys127TrpfsTer24)
c.61-6367_61-6366insGG (n.61-6367_61-6366insGG)
c.442-6367_442-6366insGG (n.442-6367_442-6366insGG)
 ClinVar dbSNP

Number of alleles fetched