Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.233760668T>ACA351066548UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6366T>A (n.856-6366T>A)
c.868-6366T>A (n.868-6366T>A)
c.862-6366T>A (n.862-6366T>A)
c.381T>A (p.Cys127Ter)
c.61-6366T>A (n.61-6366T>A)
c.442-6366T>A (n.442-6366T>A)
2g.233760668T>CCA431960395UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6366T>C (n.856-6366T>C)
c.868-6366T>C (n.868-6366T>C)
c.862-6366T>C (n.862-6366T>C)
c.381T>C (p.Cys127=)
c.61-6366T>C (n.61-6366T>C)
c.442-6366T>C (n.442-6366T>C)
gnomAD v4
2g.233760668T>GCA351066549UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6366T>G (n.856-6366T>G)
c.868-6366T>G (n.868-6366T>G)
c.862-6366T>G (n.862-6366T>G)
c.381T>G (p.Cys127Trp)
c.61-6366T>G (n.61-6366T>G)
c.442-6366T>G (n.442-6366T>G)
2g.233760669T>ACA351066550UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6365T>A (n.856-6365T>A)
c.868-6365T>A (n.868-6365T>A)
c.862-6365T>A (n.862-6365T>A)
c.382T>A (p.Ser128Thr)
c.61-6365T>A (n.61-6365T>A)
c.442-6365T>A (n.442-6365T>A)
2g.233760669T>CCA351066551UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6365T>C (n.856-6365T>C)
c.868-6365T>C (n.868-6365T>C)
c.862-6365T>C (n.862-6365T>C)
c.382T>C (p.Ser128Pro)
c.61-6365T>C (n.61-6365T>C)
c.442-6365T>C (n.442-6365T>C)
2g.233760669T>GCA351066552UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6365T>G (n.856-6365T>G)
c.868-6365T>G (n.868-6365T>G)
c.862-6365T>G (n.862-6365T>G)
c.382T>G (p.Ser128Ala)
c.61-6365T>G (n.61-6365T>G)
c.442-6365T>G (n.442-6365T>G)
2g.233760670C>ACA351066553UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6364C>A (n.856-6364C>A)
c.868-6364C>A (n.868-6364C>A)
c.862-6364C>A (n.862-6364C>A)
c.383C>A (p.Ser128Tyr)
c.61-6364C>A (n.61-6364C>A)
c.442-6364C>A (n.442-6364C>A)
2g.233760670C>GCA351066554UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6364C>G (n.856-6364C>G)
c.868-6364C>G (n.868-6364C>G)
c.862-6364C>G (n.862-6364C>G)
c.383C>G (p.Ser128Cys)
c.61-6364C>G (n.61-6364C>G)
c.442-6364C>G (n.442-6364C>G)
2g.233760670C>TCA351066555UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6364C>T (n.856-6364C>T)
c.868-6364C>T (n.868-6364C>T)
c.862-6364C>T (n.862-6364C>T)
c.383C>T (p.Ser128Phe)
c.61-6364C>T (n.61-6364C>T)
c.442-6364C>T (n.442-6364C>T)
gnomAD v4
2g.233760671C>ACA431960396UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6363C>A (n.856-6363C>A)
c.868-6363C>A (n.868-6363C>A)
c.862-6363C>A (n.862-6363C>A)
c.384C>A (p.Ser128=)
c.61-6363C>A (n.61-6363C>A)
c.442-6363C>A (n.442-6363C>A)
2g.233760671C>GCA431960398UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6363C>G (n.856-6363C>G)
c.868-6363C>G (n.868-6363C>G)
c.862-6363C>G (n.862-6363C>G)
c.384C>G (p.Ser128=)
c.61-6363C>G (n.61-6363C>G)
c.442-6363C>G (n.442-6363C>G)
2g.233760671C>TCA431960397UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6363C>T (n.856-6363C>T)
c.868-6363C>T (n.868-6363C>T)
c.862-6363C>T (n.862-6363C>T)
c.384C>T (p.Ser128=)
c.61-6363C>T (n.61-6363C>T)
c.442-6363C>T (n.442-6363C>T)
gnomAD v4
2g.233760672C>ACA351066558UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6362C>A (n.856-6362C>A)
c.868-6362C>A (n.868-6362C>A)
c.862-6362C>A (n.862-6362C>A)
c.385C>A (p.His129Asn)
c.61-6362C>A (n.61-6362C>A)
c.442-6362C>A (n.442-6362C>A)
2g.233760672C=CA1335889320UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6362C= (n.856-6362C=)
c.868-6362C= (n.868-6362C=)
c.862-6362C= (n.862-6362C=)
c.385C= (p.His129=)
c.61-6362C= (n.61-6362C=)
c.442-6362C= (n.442-6362C=)
2g.233760672C>GCA351066557UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6362C>G (n.856-6362C>G)
c.868-6362C>G (n.868-6362C>G)
c.862-6362C>G (n.862-6362C>G)
c.385C>G (p.His129Asp)
c.61-6362C>G (n.61-6362C>G)
c.442-6362C>G (n.442-6362C>G)
2g.233760672C>TCA351066556UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6362C>T (n.856-6362C>T)
c.868-6362C>T (n.868-6362C>T)
c.862-6362C>T (n.862-6362C>T)
c.385C>T (p.His129Tyr)
c.61-6362C>T (n.61-6362C>T)
c.442-6362C>T (n.442-6362C>T)
dbSNP
2g.233760673A=CA1335889322UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6361A= (n.856-6361A=)
c.868-6361A= (n.868-6361A=)
c.862-6361A= (n.862-6361A=)
c.386A= (p.His129=)
c.61-6361A= (n.61-6361A=)
c.442-6361A= (n.442-6361A=)
2g.233760673A>CCA351066559UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6361A>C (n.856-6361A>C)
c.868-6361A>C (n.868-6361A>C)
c.862-6361A>C (n.862-6361A>C)
c.386A>C (p.His129Pro)
c.61-6361A>C (n.61-6361A>C)
c.442-6361A>C (n.442-6361A>C)
2g.233760673A>GCA351066560UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6361A>G (n.856-6361A>G)
c.868-6361A>G (n.868-6361A>G)
c.862-6361A>G (n.862-6361A>G)
c.386A>G (p.His129Arg)
c.61-6361A>G (n.61-6361A>G)
c.442-6361A>G (n.442-6361A>G)
ClinVar dbSNP gnomAD v4
2g.233760673A>TCA351066561UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6361A>T (n.856-6361A>T)
c.868-6361A>T (n.868-6361A>T)
c.862-6361A>T (n.862-6361A>T)
c.386A>T (p.His129Leu)
c.61-6361A>T (n.61-6361A>T)
c.442-6361A>T (n.442-6361A>T)
dbSNP gnomAD v3 gnomAD v4
2g.233760674C>ACA351066562UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6360C>A (n.856-6360C>A)
c.868-6360C>A (n.868-6360C>A)
c.862-6360C>A (n.862-6360C>A)
c.387C>A (p.His129Gln)
c.61-6360C>A (n.61-6360C>A)
c.442-6360C>A (n.442-6360C>A)
2g.233760674C=CA1335889325UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6360C= (n.856-6360C=)
c.868-6360C= (n.868-6360C=)
c.862-6360C= (n.862-6360C=)
c.387C= (p.His129=)
c.61-6360C= (n.61-6360C=)
c.442-6360C= (n.442-6360C=)
2g.233760674C>GCA351066563UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6360C>G (n.856-6360C>G)
c.868-6360C>G (n.868-6360C>G)
c.862-6360C>G (n.862-6360C>G)
c.387C>G (p.His129Gln)
c.61-6360C>G (n.61-6360C>G)
c.442-6360C>G (n.442-6360C>G)
ClinVar dbSNP
2g.233760674C>TCA431960399UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6360C>T (n.856-6360C>T)
c.868-6360C>T (n.868-6360C>T)
c.862-6360C>T (n.862-6360C>T)
c.387C>T (p.His129=)
c.61-6360C>T (n.61-6360C>T)
c.442-6360C>T (n.442-6360C>T)
2g.233760675T>ACA351066564UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6359T>A (n.856-6359T>A)
c.868-6359T>A (n.868-6359T>A)
c.862-6359T>A (n.862-6359T>A)
c.388T>A (p.Leu130Ile)
c.61-6359T>A (n.61-6359T>A)
c.442-6359T>A (n.442-6359T>A)
2g.233760675T>CCA431960400UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6359T>C (n.856-6359T>C)
c.868-6359T>C (n.868-6359T>C)
c.862-6359T>C (n.862-6359T>C)
c.388T>C (p.Leu130=)
c.61-6359T>C (n.61-6359T>C)
c.442-6359T>C (n.442-6359T>C)
2g.233760675T>GCA351066565UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6359T>G (n.856-6359T>G)
c.868-6359T>G (n.868-6359T>G)
c.862-6359T>G (n.862-6359T>G)
c.388T>G (p.Leu130Val)
c.61-6359T>G (n.61-6359T>G)
c.442-6359T>G (n.442-6359T>G)
2g.233760676dupCA2499215797UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6358dup (n.856-6358dup)
c.868-6358dup (n.868-6358dup)
c.862-6358dup (n.862-6358dup)
c.389dup (p.Leu130PhefsTer17)
c.61-6358dup (n.61-6358dup)
c.442-6358dup (n.442-6358dup)
ClinVar dbSNP
2g.233760676T>ACA351066566UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6358T>A (n.856-6358T>A)
c.868-6358T>A (n.868-6358T>A)
c.862-6358T>A (n.862-6358T>A)
c.389T>A (p.Leu130Ter)
c.61-6358T>A (n.61-6358T>A)
c.442-6358T>A (n.442-6358T>A)
2g.233760676T>CCA351066568UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6358T>C (n.856-6358T>C)
c.868-6358T>C (n.868-6358T>C)
c.862-6358T>C (n.862-6358T>C)
c.389T>C (p.Leu130Ser)
c.61-6358T>C (n.61-6358T>C)
c.442-6358T>C (n.442-6358T>C)
2g.233760676T>GCA351066567UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6358T>G (n.856-6358T>G)
c.868-6358T>G (n.868-6358T>G)
c.862-6358T>G (n.862-6358T>G)
c.389T>G (p.Leu130Ter)
c.61-6358T>G (n.61-6358T>G)
c.442-6358T>G (n.442-6358T>G)
2g.233760677A=CA1335889328UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6357A= (n.856-6357A=)
c.868-6357A= (n.868-6357A=)
c.862-6357A= (n.862-6357A=)
c.390A= (p.Leu130=)
c.61-6357A= (n.61-6357A=)
c.442-6357A= (n.442-6357A=)
2g.233760677A>CCA351066569UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6357A>C (n.856-6357A>C)
c.868-6357A>C (n.868-6357A>C)
c.862-6357A>C (n.862-6357A>C)
c.390A>C (p.Leu130Phe)
c.61-6357A>C (n.61-6357A>C)
c.442-6357A>C (n.442-6357A>C)
2g.233760677A>GCA431960401UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6357A>G (n.856-6357A>G)
c.868-6357A>G (n.868-6357A>G)
c.862-6357A>G (n.862-6357A>G)
c.390A>G (p.Leu130=)
c.61-6357A>G (n.61-6357A>G)
c.442-6357A>G (n.442-6357A>G)
dbSNP gnomAD v2 gnomAD v4
2g.233760677A>TCA2179818UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6357A>T (n.856-6357A>T)
c.868-6357A>T (n.868-6357A>T)
c.862-6357A>T (n.862-6357A>T)
c.390A>T (p.Leu130Phe)
c.61-6357A>T (n.61-6357A>T)
c.442-6357A>T (n.442-6357A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760677dupCA2577284379UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6357dup (n.856-6357dup)
c.868-6357dup (n.868-6357dup)
c.862-6357dup (n.862-6357dup)
c.390dup (p.Leu131ThrfsTer16)
c.61-6357dup (n.61-6357dup)
c.442-6357dup (n.442-6357dup)
2g.233760678C>ACA351066570UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6356C>A (n.856-6356C>A)
c.868-6356C>A (n.868-6356C>A)
c.862-6356C>A (n.862-6356C>A)
c.391C>A (p.Leu131Met)
c.61-6356C>A (n.61-6356C>A)
c.442-6356C>A (n.442-6356C>A)
2g.233760678C>GCA351066571UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6356C>G (n.856-6356C>G)
c.868-6356C>G (n.868-6356C>G)
c.862-6356C>G (n.862-6356C>G)
c.391C>G (p.Leu131Val)
c.61-6356C>G (n.61-6356C>G)
c.442-6356C>G (n.442-6356C>G)
2g.233760678C>TCA431960402UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6356C>T (n.856-6356C>T)
c.868-6356C>T (n.868-6356C>T)
c.862-6356C>T (n.862-6356C>T)
c.391C>T (p.Leu131=)
c.61-6356C>T (n.61-6356C>T)
c.442-6356C>T (n.442-6356C>T)
2g.233760679T>ACA351066572UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6355T>A (n.856-6355T>A)
c.868-6355T>A (n.868-6355T>A)
c.862-6355T>A (n.862-6355T>A)
c.392T>A (p.Leu131Gln)
c.61-6355T>A (n.61-6355T>A)
c.442-6355T>A (n.442-6355T>A)
2g.233760679T>CCA351066574UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6355T>C (n.856-6355T>C)
c.868-6355T>C (n.868-6355T>C)
c.862-6355T>C (n.862-6355T>C)
c.392T>C (p.Leu131Pro)
c.61-6355T>C (n.61-6355T>C)
c.442-6355T>C (n.442-6355T>C)
2g.233760679T>GCA351066573UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6355T>G (n.856-6355T>G)
c.868-6355T>G (n.868-6355T>G)
c.862-6355T>G (n.862-6355T>G)
c.392T>G (p.Leu131Arg)
c.61-6355T>G (n.61-6355T>G)
c.442-6355T>G (n.442-6355T>G)
dbSNP
2g.233760679T=CA1335889330UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6355T= (n.856-6355T=)
c.868-6355T= (n.868-6355T=)
c.862-6355T= (n.862-6355T=)
c.392T= (p.Leu131=)
c.61-6355T= (n.61-6355T=)
c.442-6355T= (n.442-6355T=)
2g.233760680G>ACA431960405UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6354G>A (n.856-6354G>A)
c.868-6354G>A (n.868-6354G>A)
c.862-6354G>A (n.862-6354G>A)
c.393G>A (p.Leu131=)
c.61-6354G>A (n.61-6354G>A)
c.442-6354G>A (n.442-6354G>A)
gnomAD v4
2g.233760680G>CCA431960404UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6354G>C (n.856-6354G>C)
c.868-6354G>C (n.868-6354G>C)
c.862-6354G>C (n.862-6354G>C)
c.393G>C (p.Leu131=)
c.61-6354G>C (n.61-6354G>C)
c.442-6354G>C (n.442-6354G>C)
2g.233760680G>TCA431960403UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6354G>T (n.856-6354G>T)
c.868-6354G>T (n.868-6354G>T)
c.862-6354G>T (n.862-6354G>T)
c.393G>T (p.Leu131=)
c.61-6354G>T (n.61-6354G>T)
c.442-6354G>T (n.442-6354G>T)
2g.233760681C>ACA2179819UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6353C>A (n.856-6353C>A)
c.868-6353C>A (n.868-6353C>A)
c.862-6353C>A (n.862-6353C>A)
c.394C>A (p.His132Asn)
c.61-6353C>A (n.61-6353C>A)
c.442-6353C>A (n.442-6353C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760681C=CA1335889334UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6353C= (n.856-6353C=)
c.868-6353C= (n.868-6353C=)
c.862-6353C= (n.862-6353C=)
c.394C= (p.His132=)
c.61-6353C= (n.61-6353C=)
c.442-6353C= (n.442-6353C=)
2g.233760681C>GCA351066575UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6353C>G (n.856-6353C>G)
c.868-6353C>G (n.868-6353C>G)
c.862-6353C>G (n.862-6353C>G)
c.394C>G (p.His132Asp)
c.61-6353C>G (n.61-6353C>G)
c.442-6353C>G (n.442-6353C>G)
2g.233760681C>TCA351066576UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6353C>T (n.856-6353C>T)
c.868-6353C>T (n.868-6353C>T)
c.862-6353C>T (n.862-6353C>T)
c.394C>T (p.His132Tyr)
c.61-6353C>T (n.61-6353C>T)
c.442-6353C>T (n.442-6353C>T)
dbSNP gnomAD v2 gnomAD v4
2g.233760681_233760684delinsCACACA1335889333UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6353_856-6350delinsCACA (n.856-6353_856-6350delinsCACA)
c.868-6353_868-6350delinsCACA (n.868-6353_868-6350delinsCACA)
c.862-6353_862-6350delinsCACA (n.862-6353_862-6350delinsCACA)
c.394_397delinsCACA (p.His132=)
c.61-6353_61-6350delinsCACA (n.61-6353_61-6350delinsCACA)
c.442-6353_442-6350delinsCACA (n.442-6353_442-6350delinsCACA)
2g.233760682A>CCA351066577UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6352A>C (n.856-6352A>C)
c.868-6352A>C (n.868-6352A>C)
c.862-6352A>C (n.862-6352A>C)
c.395A>C (p.His132Pro)
c.61-6352A>C (n.61-6352A>C)
c.442-6352A>C (n.442-6352A>C)
2g.233760682A>GCA351066578UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6352A>G (n.856-6352A>G)
c.868-6352A>G (n.868-6352A>G)
c.862-6352A>G (n.862-6352A>G)
c.395A>G (p.His132Arg)
c.61-6352A>G (n.61-6352A>G)
c.442-6352A>G (n.442-6352A>G)
ClinVar gnomAD v4
2g.233760682A>TCA351066579UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6352A>T (n.856-6352A>T)
c.868-6352A>T (n.868-6352A>T)
c.862-6352A>T (n.862-6352A>T)
c.395A>T (p.His132Leu)
c.61-6352A>T (n.61-6352A>T)
c.442-6352A>T (n.442-6352A>T)
2g.233760686_233760688delCA1043554810UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6348_856-6346del (n.856-6348_856-6346del)
c.868-6348_868-6346del (n.868-6348_868-6346del)
c.862-6348_862-6346del (n.862-6348_862-6346del)
c.399_401del (p.Asn133del)
c.61-6348_61-6346del (n.61-6348_61-6346del)
c.442-6348_442-6346del (n.442-6348_442-6346del)
dbSNP gnomAD v3 gnomAD v4
2g.233760683_233760688delCA2580066074UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6351_856-6346del (n.856-6351_856-6346del)
c.868-6351_868-6346del (n.868-6351_868-6346del)
c.862-6351_862-6346del (n.862-6351_862-6346del)
c.396_401del (p.His132_Lys134delinsGln)
c.61-6351_61-6346del (n.61-6351_61-6346del)
c.442-6351_442-6346del (n.442-6351_442-6346del)
ClinVar
2g.233760683C>ACA351066580UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6351C>A (n.856-6351C>A)
c.868-6351C>A (n.868-6351C>A)
c.862-6351C>A (n.862-6351C>A)
c.396C>A (p.His132Gln)
c.61-6351C>A (n.61-6351C>A)
c.442-6351C>A (n.442-6351C>A)
2g.233760683C>GCA351066581UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6351C>G (n.856-6351C>G)
c.868-6351C>G (n.868-6351C>G)
c.862-6351C>G (n.862-6351C>G)
c.396C>G (p.His132Gln)
c.61-6351C>G (n.61-6351C>G)
c.442-6351C>G (n.442-6351C>G)
gnomAD v4
2g.233760683C>TCA431960406UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6351C>T (n.856-6351C>T)
c.868-6351C>T (n.868-6351C>T)
c.862-6351C>T (n.862-6351C>T)
c.396C>T (p.His132=)
c.61-6351C>T (n.61-6351C>T)
c.442-6351C>T (n.442-6351C>T)
2g.233760684A>CCA351066582UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6350A>C (n.856-6350A>C)
c.868-6350A>C (n.868-6350A>C)
c.862-6350A>C (n.862-6350A>C)
c.397A>C (p.Asn133His)
c.61-6350A>C (n.61-6350A>C)
c.442-6350A>C (n.442-6350A>C)
2g.233760684A>GCA351066583UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6350A>G (n.856-6350A>G)
c.868-6350A>G (n.868-6350A>G)
c.862-6350A>G (n.862-6350A>G)
c.397A>G (p.Asn133Asp)
c.61-6350A>G (n.61-6350A>G)
c.442-6350A>G (n.442-6350A>G)
gnomAD v4
2g.233760684A>TCA351066584UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6350A>T (n.856-6350A>T)
c.868-6350A>T (n.868-6350A>T)
c.862-6350A>T (n.862-6350A>T)
c.397A>T (p.Asn133Tyr)
c.61-6350A>T (n.61-6350A>T)
c.442-6350A>T (n.442-6350A>T)
2g.233760685A=CA1335889337UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6349A= (n.856-6349A=)
c.868-6349A= (n.868-6349A=)
c.862-6349A= (n.862-6349A=)
c.398A= (p.Asn133=)
c.61-6349A= (n.61-6349A=)
c.442-6349A= (n.442-6349A=)
2g.233760685A>CCA351066585UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6349A>C (n.856-6349A>C)
c.868-6349A>C (n.868-6349A>C)
c.862-6349A>C (n.862-6349A>C)
c.398A>C (p.Asn133Thr)
c.61-6349A>C (n.61-6349A>C)
c.442-6349A>C (n.442-6349A>C)
2g.233760685A>GCA2179820UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6349A>G (n.856-6349A>G)
c.868-6349A>G (n.868-6349A>G)
c.862-6349A>G (n.862-6349A>G)
c.398A>G (p.Asn133Ser)
c.61-6349A>G (n.61-6349A>G)
c.442-6349A>G (n.442-6349A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760685A>TCA351066586UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6349A>T (n.856-6349A>T)
c.868-6349A>T (n.868-6349A>T)
c.862-6349A>T (n.862-6349A>T)
c.398A>T (p.Asn133Ile)
c.61-6349A>T (n.61-6349A>T)
c.442-6349A>T (n.442-6349A>T)
2g.233760686C>ACA351066587UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6348C>A (n.856-6348C>A)
c.868-6348C>A (n.868-6348C>A)
c.862-6348C>A (n.862-6348C>A)
c.399C>A (p.Asn133Lys)
c.61-6348C>A (n.61-6348C>A)
c.442-6348C>A (n.442-6348C>A)
2g.233760686C=CA1335889340UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6348C= (n.856-6348C=)
c.868-6348C= (n.868-6348C=)
c.862-6348C= (n.862-6348C=)
c.399C= (p.Asn133=)
c.61-6348C= (n.61-6348C=)
c.442-6348C= (n.442-6348C=)
2g.233760686C>GCA351066588UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6348C>G (n.856-6348C>G)
c.868-6348C>G (n.868-6348C>G)
c.862-6348C>G (n.862-6348C>G)
c.399C>G (p.Asn133Lys)
c.61-6348C>G (n.61-6348C>G)
c.442-6348C>G (n.442-6348C>G)
ClinVar dbSNP gnomAD v4
2g.233760686C>TCA431960407UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6348C>T (n.856-6348C>T)
c.868-6348C>T (n.868-6348C>T)
c.862-6348C>T (n.862-6348C>T)
c.399C>T (p.Asn133=)
c.61-6348C>T (n.61-6348C>T)
c.442-6348C>T (n.442-6348C>T)
gnomAD v4
2g.233760687A>CCA351066589UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6347A>C (n.856-6347A>C)
c.868-6347A>C (n.868-6347A>C)
c.862-6347A>C (n.862-6347A>C)
c.400A>C (p.Lys134Gln)
c.61-6347A>C (n.61-6347A>C)
c.442-6347A>C (n.442-6347A>C)
gnomAD v4
2g.233760687A>GCA351066591UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6347A>G (n.856-6347A>G)
c.868-6347A>G (n.868-6347A>G)
c.862-6347A>G (n.862-6347A>G)
c.400A>G (p.Lys134Glu)
c.61-6347A>G (n.61-6347A>G)
c.442-6347A>G (n.442-6347A>G)
2g.233760687A>TCA351066590UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6347A>T (n.856-6347A>T)
c.868-6347A>T (n.868-6347A>T)
c.862-6347A>T (n.862-6347A>T)
c.400A>T (p.Lys134Ter)
c.61-6347A>T (n.61-6347A>T)
c.442-6347A>T (n.442-6347A>T)
2g.233760688A>CCA351066592UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6346A>C (n.856-6346A>C)
c.868-6346A>C (n.868-6346A>C)
c.862-6346A>C (n.862-6346A>C)
c.401A>C (p.Lys134Thr)
c.61-6346A>C (n.61-6346A>C)
c.442-6346A>C (n.442-6346A>C)
2g.233760688A>GCA351066594UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6346A>G (n.856-6346A>G)
c.868-6346A>G (n.868-6346A>G)
c.862-6346A>G (n.862-6346A>G)
c.401A>G (p.Lys134Arg)
c.61-6346A>G (n.61-6346A>G)
c.442-6346A>G (n.442-6346A>G)
2g.233760688A>TCA351066593UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6346A>T (n.856-6346A>T)
c.868-6346A>T (n.868-6346A>T)
c.862-6346A>T (n.862-6346A>T)
c.401A>T (p.Lys134Met)
c.61-6346A>T (n.61-6346A>T)
c.442-6346A>T (n.442-6346A>T)
2g.233760689G>ACA431960408UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6345G>A (n.856-6345G>A)
c.868-6345G>A (n.868-6345G>A)
c.862-6345G>A (n.862-6345G>A)
c.402G>A (p.Lys134=)
c.61-6345G>A (n.61-6345G>A)
c.442-6345G>A (n.442-6345G>A)
2g.233760689G>CCA351066595UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6345G>C (n.856-6345G>C)
c.868-6345G>C (n.868-6345G>C)
c.862-6345G>C (n.862-6345G>C)
c.402G>C (p.Lys134Asn)
c.61-6345G>C (n.61-6345G>C)
c.442-6345G>C (n.442-6345G>C)
2g.233760689G>TCA351066596UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6345G>T (n.856-6345G>T)
c.868-6345G>T (n.868-6345G>T)
c.862-6345G>T (n.862-6345G>T)
c.402G>T (p.Lys134Asn)
c.61-6345G>T (n.61-6345G>T)
c.442-6345G>T (n.442-6345G>T)
2g.233760690G>ACA351066597UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6344G>A (n.856-6344G>A)
c.868-6344G>A (n.868-6344G>A)
c.862-6344G>A (n.862-6344G>A)
c.403G>A (p.Glu135Lys)
c.61-6344G>A (n.61-6344G>A)
c.442-6344G>A (n.442-6344G>A)
2g.233760690G>CCA351066599UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6344G>C (n.856-6344G>C)
c.868-6344G>C (n.868-6344G>C)
c.862-6344G>C (n.862-6344G>C)
c.403G>C (p.Glu135Gln)
c.61-6344G>C (n.61-6344G>C)
c.442-6344G>C (n.442-6344G>C)
2g.233760690G>TCA351066598UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6344G>T (n.856-6344G>T)
c.868-6344G>T (n.868-6344G>T)
c.862-6344G>T (n.862-6344G>T)
c.403G>T (p.Glu135Ter)
c.61-6344G>T (n.61-6344G>T)
c.442-6344G>T (n.442-6344G>T)
2g.233760691A>CCA351066600UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6343A>C (n.856-6343A>C)
c.868-6343A>C (n.868-6343A>C)
c.862-6343A>C (n.862-6343A>C)
c.404A>C (p.Glu135Ala)
c.61-6343A>C (n.61-6343A>C)
c.442-6343A>C (n.442-6343A>C)
2g.233760691A>GCA351066602UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6343A>G (n.856-6343A>G)
c.868-6343A>G (n.868-6343A>G)
c.862-6343A>G (n.862-6343A>G)
c.404A>G (p.Glu135Gly)
c.61-6343A>G (n.61-6343A>G)
c.442-6343A>G (n.442-6343A>G)
2g.233760691A>TCA351066601UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6343A>T (n.856-6343A>T)
c.868-6343A>T (n.868-6343A>T)
c.862-6343A>T (n.862-6343A>T)
c.404A>T (p.Glu135Val)
c.61-6343A>T (n.61-6343A>T)
c.442-6343A>T (n.442-6343A>T)
2g.233760692G>ACA2179821UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6342G>A (n.856-6342G>A)
c.868-6342G>A (n.868-6342G>A)
c.862-6342G>A (n.862-6342G>A)
c.405G>A (p.Glu135=)
c.61-6342G>A (n.61-6342G>A)
c.442-6342G>A (n.442-6342G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760692G>CCA351066604UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6342G>C (n.856-6342G>C)
c.868-6342G>C (n.868-6342G>C)
c.862-6342G>C (n.862-6342G>C)
c.405G>C (p.Glu135Asp)
c.61-6342G>C (n.61-6342G>C)
c.442-6342G>C (n.442-6342G>C)
2g.233760692G=CA1335889343UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6342G= (n.856-6342G=)
c.868-6342G= (n.868-6342G=)
c.862-6342G= (n.862-6342G=)
c.405G= (p.Glu135=)
c.61-6342G= (n.61-6342G=)
c.442-6342G= (n.442-6342G=)
2g.233760692G>TCA351066603UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6342G>T (n.856-6342G>T)
c.868-6342G>T (n.868-6342G>T)
c.862-6342G>T (n.862-6342G>T)
c.405G>T (p.Glu135Asp)
c.61-6342G>T (n.61-6342G>T)
c.442-6342G>T (n.442-6342G>T)
2g.233760693C>ACA351066605UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6341C>A (n.856-6341C>A)
c.868-6341C>A (n.868-6341C>A)
c.862-6341C>A (n.862-6341C>A)
c.406C>A (p.Leu136Ile)
c.61-6341C>A (n.61-6341C>A)
c.442-6341C>A (n.442-6341C>A)
2g.233760693C=CA1335889345UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6341C= (n.856-6341C=)
c.868-6341C= (n.868-6341C=)
c.862-6341C= (n.862-6341C=)
c.406C= (p.Leu136=)
c.61-6341C= (n.61-6341C=)
c.442-6341C= (n.442-6341C=)
2g.233760693C>GCA351066607UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6341C>G (n.856-6341C>G)
c.868-6341C>G (n.868-6341C>G)
c.862-6341C>G (n.862-6341C>G)
c.406C>G (p.Leu136Val)
c.61-6341C>G (n.61-6341C>G)
c.442-6341C>G (n.442-6341C>G)
COSMIC
2g.233760693C>TCA351066606UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6341C>T (n.856-6341C>T)
c.868-6341C>T (n.868-6341C>T)
c.862-6341C>T (n.862-6341C>T)
c.406C>T (p.Leu136Phe)
c.61-6341C>T (n.61-6341C>T)
c.442-6341C>T (n.442-6341C>T)
dbSNP gnomAD v4
2g.233760694T>ACA351066608UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6340T>A (n.856-6340T>A)
c.868-6340T>A (n.868-6340T>A)
c.862-6340T>A (n.862-6340T>A)
c.407T>A (p.Leu136His)
c.61-6340T>A (n.61-6340T>A)
c.442-6340T>A (n.442-6340T>A)
2g.233760694T>CCA351066610UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6340T>C (n.856-6340T>C)
c.868-6340T>C (n.868-6340T>C)
c.862-6340T>C (n.862-6340T>C)
c.407T>C (p.Leu136Pro)
c.61-6340T>C (n.61-6340T>C)
c.442-6340T>C (n.442-6340T>C)
2g.233760694T>GCA351066609UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6340T>G (n.856-6340T>G)
c.868-6340T>G (n.868-6340T>G)
c.862-6340T>G (n.862-6340T>G)
c.407T>G (p.Leu136Arg)
c.61-6340T>G (n.61-6340T>G)
c.442-6340T>G (n.442-6340T>G)
2g.233760695C>ACA431960409UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6339C>A (n.856-6339C>A)
c.868-6339C>A (n.868-6339C>A)
c.862-6339C>A (n.862-6339C>A)
c.408C>A (p.Leu136=)
c.61-6339C>A (n.61-6339C>A)
c.442-6339C>A (n.442-6339C>A)
2g.233760695C>GCA431960410UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6339C>G (n.856-6339C>G)
c.868-6339C>G (n.868-6339C>G)
c.862-6339C>G (n.862-6339C>G)
c.408C>G (p.Leu136=)
c.61-6339C>G (n.61-6339C>G)
c.442-6339C>G (n.442-6339C>G)
2g.233760695C>TCA431960411UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6339C>T (n.856-6339C>T)
c.868-6339C>T (n.868-6339C>T)
c.862-6339C>T (n.862-6339C>T)
c.408C>T (p.Leu136=)
c.61-6339C>T (n.61-6339C>T)
c.442-6339C>T (n.442-6339C>T)
gnomAD v4
2g.233760696A=CA1335889347UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6338A= (n.856-6338A=)
c.868-6338A= (n.868-6338A=)
c.862-6338A= (n.862-6338A=)
c.409A= (p.Met137=)
c.61-6338A= (n.61-6338A=)
c.442-6338A= (n.442-6338A=)
2g.233760696A>CCA351066611UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6338A>C (n.856-6338A>C)
c.868-6338A>C (n.868-6338A>C)
c.862-6338A>C (n.862-6338A>C)
c.409A>C (p.Met137Leu)
c.61-6338A>C (n.61-6338A>C)
c.442-6338A>C (n.442-6338A>C)
dbSNP gnomAD v4
2g.233760696A>GCA351066613UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6338A>G (n.856-6338A>G)
c.868-6338A>G (n.868-6338A>G)
c.862-6338A>G (n.862-6338A>G)
c.409A>G (p.Met137Val)
c.61-6338A>G (n.61-6338A>G)
c.442-6338A>G (n.442-6338A>G)
dbSNP gnomAD v2 gnomAD v4
2g.233760696A>TCA351066612UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6338A>T (n.856-6338A>T)
c.868-6338A>T (n.868-6338A>T)
c.862-6338A>T (n.862-6338A>T)
c.409A>T (p.Met137Leu)
c.61-6338A>T (n.61-6338A>T)
c.442-6338A>T (n.442-6338A>T)
2g.233760697T>ACA351066614UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6337T>A (n.856-6337T>A)
c.868-6337T>A (n.868-6337T>A)
c.862-6337T>A (n.862-6337T>A)
c.410T>A (p.Met137Lys)
c.61-6337T>A (n.61-6337T>A)
c.442-6337T>A (n.442-6337T>A)
2g.233760697T>CCA351066615UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6337T>C (n.856-6337T>C)
c.868-6337T>C (n.868-6337T>C)
c.862-6337T>C (n.862-6337T>C)
c.410T>C (p.Met137Thr)
c.61-6337T>C (n.61-6337T>C)
c.442-6337T>C (n.442-6337T>C)
dbSNP gnomAD v4
2g.233760697T>GCA351066616UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6337T>G (n.856-6337T>G)
c.868-6337T>G (n.868-6337T>G)
c.862-6337T>G (n.862-6337T>G)
c.410T>G (p.Met137Arg)
c.61-6337T>G (n.61-6337T>G)
c.442-6337T>G (n.442-6337T>G)
2g.233760697T=CA1335889349UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6337T= (n.856-6337T=)
c.868-6337T= (n.868-6337T=)
c.862-6337T= (n.862-6337T=)
c.410T= (p.Met137=)
c.61-6337T= (n.61-6337T=)
c.442-6337T= (n.442-6337T=)
2g.233760698G>ACA351066617UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6336G>A (n.856-6336G>A)
c.868-6336G>A (n.868-6336G>A)
c.862-6336G>A (n.862-6336G>A)
c.411G>A (p.Met137Ile)
c.61-6336G>A (n.61-6336G>A)
c.442-6336G>A (n.442-6336G>A)
2g.233760698G>CCA351066618UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6336G>C (n.856-6336G>C)
c.868-6336G>C (n.868-6336G>C)
c.862-6336G>C (n.862-6336G>C)
c.411G>C (p.Met137Ile)
c.61-6336G>C (n.61-6336G>C)
c.442-6336G>C (n.442-6336G>C)
2g.233760698G>TCA351066619UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6336G>T (n.856-6336G>T)
c.868-6336G>T (n.868-6336G>T)
c.862-6336G>T (n.862-6336G>T)
c.411G>T (p.Met137Ile)
c.61-6336G>T (n.61-6336G>T)
c.442-6336G>T (n.442-6336G>T)
2g.233760699G>ACA351066620UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6335G>A (n.856-6335G>A)
c.868-6335G>A (n.868-6335G>A)
c.862-6335G>A (n.862-6335G>A)
c.412G>A (p.Ala138Thr)
c.61-6335G>A (n.61-6335G>A)
c.442-6335G>A (n.442-6335G>A)
2g.233760699G>CCA351066621UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6335G>C (n.856-6335G>C)
c.868-6335G>C (n.868-6335G>C)
c.862-6335G>C (n.862-6335G>C)
c.412G>C (p.Ala138Pro)
c.61-6335G>C (n.61-6335G>C)
c.442-6335G>C (n.442-6335G>C)
2g.233760699G>TCA351066622UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6335G>T (n.856-6335G>T)
c.868-6335G>T (n.868-6335G>T)
c.862-6335G>T (n.862-6335G>T)
c.412G>T (p.Ala138Ser)
c.61-6335G>T (n.61-6335G>T)
c.442-6335G>T (n.442-6335G>T)
2g.233760700C>ACA351066623UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6334C>A (n.856-6334C>A)
c.868-6334C>A (n.868-6334C>A)
c.862-6334C>A (n.862-6334C>A)
c.413C>A (p.Ala138Asp)
c.61-6334C>A (n.61-6334C>A)
c.442-6334C>A (n.442-6334C>A)
2g.233760700C>GCA351066624UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6334C>G (n.856-6334C>G)
c.868-6334C>G (n.868-6334C>G)
c.862-6334C>G (n.862-6334C>G)
c.413C>G (p.Ala138Gly)
c.61-6334C>G (n.61-6334C>G)
c.442-6334C>G (n.442-6334C>G)
2g.233760700C>TCA351066625UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6334C>T (n.856-6334C>T)
c.868-6334C>T (n.868-6334C>T)
c.862-6334C>T (n.862-6334C>T)
c.413C>T (p.Ala138Val)
c.61-6334C>T (n.61-6334C>T)
c.442-6334C>T (n.442-6334C>T)
gnomAD v4
2g.233760701C>ACA431960412UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6333C>A (n.856-6333C>A)
c.868-6333C>A (n.868-6333C>A)
c.862-6333C>A (n.862-6333C>A)
c.414C>A (p.Ala138=)
c.61-6333C>A (n.61-6333C>A)
c.442-6333C>A (n.442-6333C>A)
2g.233760701C=CA1335889353UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6333C= (n.856-6333C=)
c.868-6333C= (n.868-6333C=)
c.862-6333C= (n.862-6333C=)
c.414C= (p.Ala138=)
c.61-6333C= (n.61-6333C=)
c.442-6333C= (n.442-6333C=)
2g.233760701C>GCA2179822UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6333C>G (n.856-6333C>G)
c.868-6333C>G (n.868-6333C>G)
c.862-6333C>G (n.862-6333C>G)
c.414C>G (p.Ala138=)
c.61-6333C>G (n.61-6333C>G)
c.442-6333C>G (n.442-6333C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760701C>TCA431960413UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6333C>T (n.856-6333C>T)
c.868-6333C>T (n.868-6333C>T)
c.862-6333C>T (n.862-6333C>T)
c.414C>T (p.Ala138=)
c.61-6333C>T (n.61-6333C>T)
c.442-6333C>T (n.442-6333C>T)
dbSNP gnomAD v2 gnomAD v4
2g.233760702T>ACA351066626UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6332T>A (n.856-6332T>A)
c.868-6332T>A (n.868-6332T>A)
c.862-6332T>A (n.862-6332T>A)
c.415T>A (p.Ser139Thr)
c.61-6332T>A (n.61-6332T>A)
c.442-6332T>A (n.442-6332T>A)
2g.233760702T>CCA351066627UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6332T>C (n.856-6332T>C)
c.868-6332T>C (n.868-6332T>C)
c.862-6332T>C (n.862-6332T>C)
c.415T>C (p.Ser139Pro)
c.61-6332T>C (n.61-6332T>C)
c.442-6332T>C (n.442-6332T>C)
2g.233760702T>GCA351066628UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6332T>G (n.856-6332T>G)
c.868-6332T>G (n.868-6332T>G)
c.862-6332T>G (n.862-6332T>G)
c.415T>G (p.Ser139Ala)
c.61-6332T>G (n.61-6332T>G)
c.442-6332T>G (n.442-6332T>G)
2g.233760703C>ACA351066629UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6331C>A (n.856-6331C>A)
c.868-6331C>A (n.868-6331C>A)
c.862-6331C>A (n.862-6331C>A)
c.416C>A (p.Ser139Tyr)
c.61-6331C>A (n.61-6331C>A)
c.442-6331C>A (n.442-6331C>A)
2g.233760703C>GCA351066630UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6331C>G (n.856-6331C>G)
c.868-6331C>G (n.868-6331C>G)
c.862-6331C>G (n.862-6331C>G)
c.416C>G (p.Ser139Cys)
c.61-6331C>G (n.61-6331C>G)
c.442-6331C>G (n.442-6331C>G)
2g.233760703C>TCA351066631UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6331C>T (n.856-6331C>T)
c.868-6331C>T (n.868-6331C>T)
c.862-6331C>T (n.862-6331C>T)
c.416C>T (p.Ser139Phe)
c.61-6331C>T (n.61-6331C>T)
c.442-6331C>T (n.442-6331C>T)
gnomAD v4
2g.233760705delCA2582342832UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6329del (n.856-6329del)
c.868-6329del (n.868-6329del)
c.862-6329del (n.862-6329del)
c.418del (p.Leu140TrpfsTer10)
c.61-6329del (n.61-6329del)
c.442-6329del (n.442-6329del)
ClinVar
2g.233760704C>ACA431960416UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6330C>A (n.856-6330C>A)
c.868-6330C>A (n.868-6330C>A)
c.862-6330C>A (n.862-6330C>A)
c.417C>A (p.Ser139=)
c.61-6330C>A (n.61-6330C>A)
c.442-6330C>A (n.442-6330C>A)
2g.233760704C>GCA431960415UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6330C>G (n.856-6330C>G)
c.868-6330C>G (n.868-6330C>G)
c.862-6330C>G (n.862-6330C>G)
c.417C>G (p.Ser139=)
c.61-6330C>G (n.61-6330C>G)
c.442-6330C>G (n.442-6330C>G)
2g.233760704C>TCA431960414UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6330C>T (n.856-6330C>T)
c.868-6330C>T (n.868-6330C>T)
c.862-6330C>T (n.862-6330C>T)
c.417C>T (p.Ser139=)
c.61-6330C>T (n.61-6330C>T)
c.442-6330C>T (n.442-6330C>T)
2g.233760705C>ACA351066632UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6329C>A (n.856-6329C>A)
c.868-6329C>A (n.868-6329C>A)
c.862-6329C>A (n.862-6329C>A)
c.418C>A (p.Leu140Met)
c.61-6329C>A (n.61-6329C>A)
c.442-6329C>A (n.442-6329C>A)
2g.233760705C>GCA351066633UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6329C>G (n.856-6329C>G)
c.868-6329C>G (n.868-6329C>G)
c.862-6329C>G (n.862-6329C>G)
c.418C>G (p.Leu140Val)
c.61-6329C>G (n.61-6329C>G)
c.442-6329C>G (n.442-6329C>G)
2g.233760705C>TCA431960417UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6329C>T (n.856-6329C>T)
c.868-6329C>T (n.868-6329C>T)
c.862-6329C>T (n.862-6329C>T)
c.418C>T (p.Leu140=)
c.61-6329C>T (n.61-6329C>T)
c.442-6329C>T (n.442-6329C>T)
gnomAD v4
2g.233760706T>ACA351066634UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6328T>A (n.856-6328T>A)
c.868-6328T>A (n.868-6328T>A)
c.862-6328T>A (n.862-6328T>A)
c.419T>A (p.Leu140Gln)
c.61-6328T>A (n.61-6328T>A)
c.442-6328T>A (n.442-6328T>A)
2g.233760706T>CCA351066635UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6328T>C (n.856-6328T>C)
c.868-6328T>C (n.868-6328T>C)
c.862-6328T>C (n.862-6328T>C)
c.419T>C (p.Leu140Pro)
c.61-6328T>C (n.61-6328T>C)
c.442-6328T>C (n.442-6328T>C)
2g.233760706T>GCA351066636UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6328T>G (n.856-6328T>G)
c.868-6328T>G (n.868-6328T>G)
c.862-6328T>G (n.862-6328T>G)
c.419T>G (p.Leu140Arg)
c.61-6328T>G (n.61-6328T>G)
c.442-6328T>G (n.442-6328T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760706T=CA1335889354UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6328T= (n.856-6328T=)
c.868-6328T= (n.868-6328T=)
c.862-6328T= (n.862-6328T=)
c.419T= (p.Leu140=)
c.61-6328T= (n.61-6328T=)
c.442-6328T= (n.442-6328T=)
2g.233760707G>ACA67589934UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6327G>A (n.856-6327G>A)
c.868-6327G>A (n.868-6327G>A)
c.862-6327G>A (n.862-6327G>A)
c.420G>A (p.Leu140=)
c.61-6327G>A (n.61-6327G>A)
c.442-6327G>A (n.442-6327G>A)
dbSNP gnomAD v3 gnomAD v4
2g.233760707G>CCA431960419UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6327G>C (n.856-6327G>C)
c.868-6327G>C (n.868-6327G>C)
c.862-6327G>C (n.862-6327G>C)
c.420G>C (p.Leu140=)
c.61-6327G>C (n.61-6327G>C)
c.442-6327G>C (n.442-6327G>C)
2g.233760707G=CA1335889356UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6327G= (n.856-6327G=)
c.868-6327G= (n.868-6327G=)
c.862-6327G= (n.862-6327G=)
c.420G= (p.Leu140=)
c.61-6327G= (n.61-6327G=)
c.442-6327G= (n.442-6327G=)
2g.233760707G>TCA431960418UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6327G>T (n.856-6327G>T)
c.868-6327G>T (n.868-6327G>T)
c.862-6327G>T (n.862-6327G>T)
c.420G>T (p.Leu140=)
c.61-6327G>T (n.61-6327G>T)
c.442-6327G>T (n.442-6327G>T)
2g.233760708G>ACA351066637UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6326G>A (n.856-6326G>A)
c.868-6326G>A (n.868-6326G>A)
c.862-6326G>A (n.862-6326G>A)
c.421G>A (p.Ala141Thr)
c.61-6326G>A (n.61-6326G>A)
c.442-6326G>A (n.442-6326G>A)
gnomAD v4
2g.233760708G>CCA351066638UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6326G>C (n.856-6326G>C)
c.868-6326G>C (n.868-6326G>C)
c.862-6326G>C (n.862-6326G>C)
c.421G>C (p.Ala141Pro)
c.61-6326G>C (n.61-6326G>C)
c.442-6326G>C (n.442-6326G>C)
2g.233760708G>TCA351066639UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6326G>T (n.856-6326G>T)
c.868-6326G>T (n.868-6326G>T)
c.862-6326G>T (n.862-6326G>T)
c.421G>T (p.Ala141Ser)
c.61-6326G>T (n.61-6326G>T)
c.442-6326G>T (n.442-6326G>T)
2g.233760709C>ACA2179823UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6325C>A (n.856-6325C>A)
c.868-6325C>A (n.868-6325C>A)
c.862-6325C>A (n.862-6325C>A)
c.422C>A (p.Ala141Glu)
c.61-6325C>A (n.61-6325C>A)
c.442-6325C>A (n.442-6325C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760709C=CA1335889359UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6325C= (n.856-6325C=)
c.868-6325C= (n.868-6325C=)
c.862-6325C= (n.862-6325C=)
c.422C= (p.Ala141=)
c.61-6325C= (n.61-6325C=)
c.442-6325C= (n.442-6325C=)
2g.233760709C>GCA351066641UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6325C>G (n.856-6325C>G)
c.868-6325C>G (n.868-6325C>G)
c.862-6325C>G (n.862-6325C>G)
c.422C>G (p.Ala141Gly)
c.61-6325C>G (n.61-6325C>G)
c.442-6325C>G (n.442-6325C>G)
2g.233760709C>TCA351066640UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6325C>T (n.856-6325C>T)
c.868-6325C>T (n.868-6325C>T)
c.862-6325C>T (n.862-6325C>T)
c.422C>T (p.Ala141Val)
c.61-6325C>T (n.61-6325C>T)
c.442-6325C>T (n.442-6325C>T)
2g.233760710A>CCA431960420UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6324A>C (n.856-6324A>C)
c.868-6324A>C (n.868-6324A>C)
c.862-6324A>C (n.862-6324A>C)
c.423A>C (p.Ala141=)
c.61-6324A>C (n.61-6324A>C)
c.442-6324A>C (n.442-6324A>C)
2g.233760710A>GCA431960422UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6324A>G (n.856-6324A>G)
c.868-6324A>G (n.868-6324A>G)
c.862-6324A>G (n.862-6324A>G)
c.423A>G (p.Ala141=)
c.61-6324A>G (n.61-6324A>G)
c.442-6324A>G (n.442-6324A>G)
2g.233760710A>TCA431960421UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6324A>T (n.856-6324A>T)
c.868-6324A>T (n.868-6324A>T)
c.862-6324A>T (n.862-6324A>T)
c.423A>T (p.Ala141=)
c.61-6324A>T (n.61-6324A>T)
c.442-6324A>T (n.442-6324A>T)
2g.233760711G>ACA351066642UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6323G>A (n.856-6323G>A)
c.868-6323G>A (n.868-6323G>A)
c.862-6323G>A (n.862-6323G>A)
c.424G>A (p.Glu142Lys)
c.61-6323G>A (n.61-6323G>A)
c.442-6323G>A (n.442-6323G>A)
2g.233760711G>CCA351066643UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6323G>C (n.856-6323G>C)
c.868-6323G>C (n.868-6323G>C)
c.862-6323G>C (n.862-6323G>C)
c.424G>C (p.Glu142Gln)
c.61-6323G>C (n.61-6323G>C)
c.442-6323G>C (n.442-6323G>C)
2g.233760711G>TCA351066644UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6323G>T (n.856-6323G>T)
c.868-6323G>T (n.868-6323G>T)
c.862-6323G>T (n.862-6323G>T)
c.424G>T (p.Glu142Ter)
c.61-6323G>T (n.61-6323G>T)
c.442-6323G>T (n.442-6323G>T)
2g.233760712A>CCA351066645UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6322A>C (n.856-6322A>C)
c.868-6322A>C (n.868-6322A>C)
c.862-6322A>C (n.862-6322A>C)
c.425A>C (p.Glu142Ala)
c.61-6322A>C (n.61-6322A>C)
c.442-6322A>C (n.442-6322A>C)
2g.233760712A>GCA351066646UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6322A>G (n.856-6322A>G)
c.868-6322A>G (n.868-6322A>G)
c.862-6322A>G (n.862-6322A>G)
c.425A>G (p.Glu142Gly)
c.61-6322A>G (n.61-6322A>G)
c.442-6322A>G (n.442-6322A>G)
2g.233760712A>TCA351066647UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6322A>T (n.856-6322A>T)
c.868-6322A>T (n.868-6322A>T)
c.862-6322A>T (n.862-6322A>T)
c.425A>T (p.Glu142Val)
c.61-6322A>T (n.61-6322A>T)
c.442-6322A>T (n.442-6322A>T)
2g.233760713A=CA1335889362UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6321A= (n.856-6321A=)
c.868-6321A= (n.868-6321A=)
c.862-6321A= (n.862-6321A=)
c.426A= (p.Glu142=)
c.61-6321A= (n.61-6321A=)
c.442-6321A= (n.442-6321A=)
2g.233760713A>CCA351066648UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6321A>C (n.856-6321A>C)
c.868-6321A>C (n.868-6321A>C)
c.862-6321A>C (n.862-6321A>C)
c.426A>C (p.Glu142Asp)
c.61-6321A>C (n.61-6321A>C)
c.442-6321A>C (n.442-6321A>C)
2g.233760713A>GCA431960423UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6321A>G (n.856-6321A>G)
c.868-6321A>G (n.868-6321A>G)
c.862-6321A>G (n.862-6321A>G)
c.426A>G (p.Glu142=)
c.61-6321A>G (n.61-6321A>G)
c.442-6321A>G (n.442-6321A>G)
dbSNP gnomAD v3 gnomAD v4
2g.233760713A>TCA351066649UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6321A>T (n.856-6321A>T)
c.868-6321A>T (n.868-6321A>T)
c.862-6321A>T (n.862-6321A>T)
c.426A>T (p.Glu142Asp)
c.61-6321A>T (n.61-6321A>T)
c.442-6321A>T (n.442-6321A>T)
2g.233760714A>CCA351066650UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6320A>C (n.856-6320A>C)
c.868-6320A>C (n.868-6320A>C)
c.862-6320A>C (n.862-6320A>C)
c.427A>C (p.Ser143Arg)
c.61-6320A>C (n.61-6320A>C)
c.442-6320A>C (n.442-6320A>C)
2g.233760714A>GCA351066651UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6320A>G (n.856-6320A>G)
c.868-6320A>G (n.868-6320A>G)
c.862-6320A>G (n.862-6320A>G)
c.427A>G (p.Ser143Gly)
c.61-6320A>G (n.61-6320A>G)
c.442-6320A>G (n.442-6320A>G)
gnomAD v4
2g.233760714A>TCA351066652UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6320A>T (n.856-6320A>T)
c.868-6320A>T (n.868-6320A>T)
c.862-6320A>T (n.862-6320A>T)
c.427A>T (p.Ser143Cys)
c.61-6320A>T (n.61-6320A>T)
c.442-6320A>T (n.442-6320A>T)
2g.233760715G>ACA351066653UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6319G>A (n.856-6319G>A)
c.868-6319G>A (n.868-6319G>A)
c.862-6319G>A (n.862-6319G>A)
c.428G>A (p.Ser143Asn)
c.61-6319G>A (n.61-6319G>A)
c.442-6319G>A (n.442-6319G>A)
ClinVar dbSNP gnomAD v4
2g.233760715G>CCA351066654UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6319G>C (n.856-6319G>C)
c.868-6319G>C (n.868-6319G>C)
c.862-6319G>C (n.862-6319G>C)
c.428G>C (p.Ser143Thr)
c.61-6319G>C (n.61-6319G>C)
c.442-6319G>C (n.442-6319G>C)
2g.233760715G=CA1335889365UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6319G= (n.856-6319G=)
c.868-6319G= (n.868-6319G=)
c.862-6319G= (n.862-6319G=)
c.428G= (p.Ser143=)
c.61-6319G= (n.61-6319G=)
c.442-6319G= (n.442-6319G=)
2g.233760715G>TCA351066655UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6319G>T (n.856-6319G>T)
c.868-6319G>T (n.868-6319G>T)
c.862-6319G>T (n.862-6319G>T)
c.428G>T (p.Ser143Ile)
c.61-6319G>T (n.61-6319G>T)
c.442-6319G>T (n.442-6319G>T)
2g.233760716C>ACA351066656UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6318C>A (n.856-6318C>A)
c.868-6318C>A (n.868-6318C>A)
c.862-6318C>A (n.862-6318C>A)
c.429C>A (p.Ser143Arg)
c.61-6318C>A (n.61-6318C>A)
c.442-6318C>A (n.442-6318C>A)
COSMIC COSMIC
2g.233760716C=CA1335889367UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6318C= (n.856-6318C=)
c.868-6318C= (n.868-6318C=)
c.862-6318C= (n.862-6318C=)
c.429C= (p.Ser143=)
c.61-6318C= (n.61-6318C=)
c.442-6318C= (n.442-6318C=)
2g.233760716C>GCA351066657UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6318C>G (n.856-6318C>G)
c.868-6318C>G (n.868-6318C>G)
c.862-6318C>G (n.862-6318C>G)
c.429C>G (p.Ser143Arg)
c.61-6318C>G (n.61-6318C>G)
c.442-6318C>G (n.442-6318C>G)
2g.233760716C>TCA431960424UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6318C>T (n.856-6318C>T)
c.868-6318C>T (n.868-6318C>T)
c.862-6318C>T (n.862-6318C>T)
c.429C>T (p.Ser143=)
c.61-6318C>T (n.61-6318C>T)
c.442-6318C>T (n.442-6318C>T)
dbSNP gnomAD v4
2g.233760717A>CCA351066658UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6317A>C (n.856-6317A>C)
c.868-6317A>C (n.868-6317A>C)
c.862-6317A>C (n.862-6317A>C)
c.430A>C (p.Ser144Arg)
c.61-6317A>C (n.61-6317A>C)
c.442-6317A>C (n.442-6317A>C)
2g.233760717A>GCA351066659UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6317A>G (n.856-6317A>G)
c.868-6317A>G (n.868-6317A>G)
c.862-6317A>G (n.862-6317A>G)
c.430A>G (p.Ser144Gly)
c.61-6317A>G (n.61-6317A>G)
c.442-6317A>G (n.442-6317A>G)
2g.233760717A>TCA351066660UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6317A>T (n.856-6317A>T)
c.868-6317A>T (n.868-6317A>T)
c.862-6317A>T (n.862-6317A>T)
c.430A>T (p.Ser144Cys)
c.61-6317A>T (n.61-6317A>T)
c.442-6317A>T (n.442-6317A>T)
2g.233760718G>ACA351066661UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6316G>A (n.856-6316G>A)
c.868-6316G>A (n.868-6316G>A)
c.862-6316G>A (n.862-6316G>A)
c.431G>A (p.Ser144Asn)
c.61-6316G>A (n.61-6316G>A)
c.442-6316G>A (n.442-6316G>A)
2g.233760718G>CCA351066662UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6316G>C (n.856-6316G>C)
c.868-6316G>C (n.868-6316G>C)
c.862-6316G>C (n.862-6316G>C)
c.431G>C (p.Ser144Thr)
c.61-6316G>C (n.61-6316G>C)
c.442-6316G>C (n.442-6316G>C)
2g.233760718G=CA1335889369UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6316G= (n.856-6316G=)
c.868-6316G= (n.868-6316G=)
c.862-6316G= (n.862-6316G=)
c.431G= (p.Ser144=)
c.61-6316G= (n.61-6316G=)
c.442-6316G= (n.442-6316G=)
2g.233760718G>TCA351066663UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6316G>T (n.856-6316G>T)
c.868-6316G>T (n.868-6316G>T)
c.862-6316G>T (n.862-6316G>T)
c.431G>T (p.Ser144Ile)
c.61-6316G>T (n.61-6316G>T)
c.442-6316G>T (n.442-6316G>T)
dbSNP
2g.233760719C>ACA351066664UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6315C>A (n.856-6315C>A)
c.868-6315C>A (n.868-6315C>A)
c.862-6315C>A (n.862-6315C>A)
c.432C>A (p.Ser144Arg)
c.61-6315C>A (n.61-6315C>A)
c.442-6315C>A (n.442-6315C>A)
gnomAD v4
2g.233760719C>GCA351066665UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6315C>G (n.856-6315C>G)
c.868-6315C>G (n.868-6315C>G)
c.862-6315C>G (n.862-6315C>G)
c.432C>G (p.Ser144Arg)
c.61-6315C>G (n.61-6315C>G)
c.442-6315C>G (n.442-6315C>G)
2g.233760719C>TCA431960425UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6315C>T (n.856-6315C>T)
c.868-6315C>T (n.868-6315C>T)
c.862-6315C>T (n.862-6315C>T)
c.432C>T (p.Ser144=)
c.61-6315C>T (n.61-6315C>T)
c.442-6315C>T (n.442-6315C>T)
2g.233760720T>ACA351066666UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6314T>A (n.856-6314T>A)
c.868-6314T>A (n.868-6314T>A)
c.862-6314T>A (n.862-6314T>A)
c.433T>A (p.Phe145Ile)
c.61-6314T>A (n.61-6314T>A)
c.442-6314T>A (n.442-6314T>A)
2g.233760720T>CCA351066667UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6314T>C (n.856-6314T>C)
c.868-6314T>C (n.868-6314T>C)
c.862-6314T>C (n.862-6314T>C)
c.433T>C (p.Phe145Leu)
c.61-6314T>C (n.61-6314T>C)
c.442-6314T>C (n.442-6314T>C)
2g.233760720T>GCA351066668UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6314T>G (n.856-6314T>G)
c.868-6314T>G (n.868-6314T>G)
c.862-6314T>G (n.862-6314T>G)
c.433T>G (p.Phe145Val)
c.61-6314T>G (n.61-6314T>G)
c.442-6314T>G (n.442-6314T>G)
COSMIC
2g.233760721T>ACA351066669UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6313T>A (n.856-6313T>A)
c.868-6313T>A (n.868-6313T>A)
c.862-6313T>A (n.862-6313T>A)
c.434T>A (p.Phe145Tyr)
c.61-6313T>A (n.61-6313T>A)
c.442-6313T>A (n.442-6313T>A)
2g.233760721T>CCA351066671UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6313T>C (n.856-6313T>C)
c.868-6313T>C (n.868-6313T>C)
c.862-6313T>C (n.862-6313T>C)
c.434T>C (p.Phe145Ser)
c.61-6313T>C (n.61-6313T>C)
c.442-6313T>C (n.442-6313T>C)
2g.233760721T>GCA351066670UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6313T>G (n.856-6313T>G)
c.868-6313T>G (n.868-6313T>G)
c.862-6313T>G (n.862-6313T>G)
c.434T>G (p.Phe145Cys)
c.61-6313T>G (n.61-6313T>G)
c.442-6313T>G (n.442-6313T>G)
2g.233760722T>ACA351066672UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6312T>A (n.856-6312T>A)
c.868-6312T>A (n.868-6312T>A)
c.862-6312T>A (n.862-6312T>A)
c.435T>A (p.Phe145Leu)
c.61-6312T>A (n.61-6312T>A)
c.442-6312T>A (n.442-6312T>A)
2g.233760722T>CCA431960426UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6312T>C (n.856-6312T>C)
c.868-6312T>C (n.868-6312T>C)
c.862-6312T>C (n.862-6312T>C)
c.435T>C (p.Phe145=)
c.61-6312T>C (n.61-6312T>C)
c.442-6312T>C (n.442-6312T>C)
2g.233760722T>GCA351066673UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6312T>G (n.856-6312T>G)
c.868-6312T>G (n.868-6312T>G)
c.862-6312T>G (n.862-6312T>G)
c.435T>G (p.Phe145Leu)
c.61-6312T>G (n.61-6312T>G)
c.442-6312T>G (n.442-6312T>G)
2g.233760723G>ACA351066674UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6311G>A (n.856-6311G>A)
c.868-6311G>A (n.868-6311G>A)
c.862-6311G>A (n.862-6311G>A)
c.436G>A (p.Asp146Asn)
c.61-6311G>A (n.61-6311G>A)
c.442-6311G>A (n.442-6311G>A)
2g.233760723G>CCA351066675UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6311G>C (n.856-6311G>C)
c.868-6311G>C (n.868-6311G>C)
c.862-6311G>C (n.862-6311G>C)
c.436G>C (p.Asp146His)
c.61-6311G>C (n.61-6311G>C)
c.442-6311G>C (n.442-6311G>C)
2g.233760723G>TCA351066676UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6311G>T (n.856-6311G>T)
c.868-6311G>T (n.868-6311G>T)
c.862-6311G>T (n.862-6311G>T)
c.436G>T (p.Asp146Tyr)
c.61-6311G>T (n.61-6311G>T)
c.442-6311G>T (n.442-6311G>T)
2g.233760724A>CCA351066677UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6310A>C (n.856-6310A>C)
c.868-6310A>C (n.868-6310A>C)
c.862-6310A>C (n.862-6310A>C)
c.437A>C (p.Asp146Ala)
c.61-6310A>C (n.61-6310A>C)
c.442-6310A>C (n.442-6310A>C)
2g.233760724A>GCA351066678UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6310A>G (n.856-6310A>G)
c.868-6310A>G (n.868-6310A>G)
c.862-6310A>G (n.862-6310A>G)
c.437A>G (p.Asp146Gly)
c.61-6310A>G (n.61-6310A>G)
c.442-6310A>G (n.442-6310A>G)
2g.233760724A>TCA351066679UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6310A>T (n.856-6310A>T)
c.868-6310A>T (n.868-6310A>T)
c.862-6310A>T (n.862-6310A>T)
c.437A>T (p.Asp146Val)
c.61-6310A>T (n.61-6310A>T)
c.442-6310A>T (n.442-6310A>T)
2g.233760725T>ACA351066680UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6309T>A (n.856-6309T>A)
c.868-6309T>A (n.868-6309T>A)
c.862-6309T>A (n.862-6309T>A)
c.438T>A (p.Asp146Glu)
c.61-6309T>A (n.61-6309T>A)
c.442-6309T>A (n.442-6309T>A)
2g.233760725T>CCA431960427UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6309T>C (n.856-6309T>C)
c.868-6309T>C (n.868-6309T>C)
c.862-6309T>C (n.862-6309T>C)
c.438T>C (p.Asp146=)
c.61-6309T>C (n.61-6309T>C)
c.442-6309T>C (n.442-6309T>C)
2g.233760725T>GCA351066681UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6309T>G (n.856-6309T>G)
c.868-6309T>G (n.868-6309T>G)
c.862-6309T>G (n.862-6309T>G)
c.438T>G (p.Asp146Glu)
c.61-6309T>G (n.61-6309T>G)
c.442-6309T>G (n.442-6309T>G)
2g.233760726G>ACA351066682UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6308G>A (n.856-6308G>A)
c.868-6308G>A (n.868-6308G>A)
c.862-6308G>A (n.862-6308G>A)
c.439G>A (p.Val147Ile)
c.61-6308G>A (n.61-6308G>A)
c.442-6308G>A (n.442-6308G>A)
2g.233760726G>CCA351066683UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6308G>C (n.856-6308G>C)
c.868-6308G>C (n.868-6308G>C)
c.862-6308G>C (n.862-6308G>C)
c.439G>C (p.Val147Leu)
c.61-6308G>C (n.61-6308G>C)
c.442-6308G>C (n.442-6308G>C)
2g.233760726G>TCA351066684UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6308G>T (n.856-6308G>T)
c.868-6308G>T (n.868-6308G>T)
c.862-6308G>T (n.862-6308G>T)
c.439G>T (p.Val147Phe)
c.61-6308G>T (n.61-6308G>T)
c.442-6308G>T (n.442-6308G>T)
2g.233760727T>ACA351066687UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6307T>A (n.856-6307T>A)
c.868-6307T>A (n.868-6307T>A)
c.862-6307T>A (n.862-6307T>A)
c.440T>A (p.Val147Asp)
c.61-6307T>A (n.61-6307T>A)
c.442-6307T>A (n.442-6307T>A)
2g.233760727T>CCA351066685UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6307T>C (n.856-6307T>C)
c.868-6307T>C (n.868-6307T>C)
c.862-6307T>C (n.862-6307T>C)
c.440T>C (p.Val147Ala)
c.61-6307T>C (n.61-6307T>C)
c.442-6307T>C (n.442-6307T>C)
2g.233760727T>GCA351066686UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6307T>G (n.856-6307T>G)
c.868-6307T>G (n.868-6307T>G)
c.862-6307T>G (n.862-6307T>G)
c.440T>G (p.Val147Gly)
c.61-6307T>G (n.61-6307T>G)
c.442-6307T>G (n.442-6307T>G)
gnomAD v4
2g.233760728C>ACA431960429UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6306C>A (n.856-6306C>A)
c.868-6306C>A (n.868-6306C>A)
c.862-6306C>A (n.862-6306C>A)
c.441C>A (p.Val147=)
c.61-6306C>A (n.61-6306C>A)
c.442-6306C>A (n.442-6306C>A)
COSMIC
2g.233760728C=CA1335889371UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6306C= (n.856-6306C=)
c.868-6306C= (n.868-6306C=)
c.862-6306C= (n.862-6306C=)
c.441C= (p.Val147=)
c.61-6306C= (n.61-6306C=)
c.442-6306C= (n.442-6306C=)
2g.233760728C>GCA431960428UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6306C>G (n.856-6306C>G)
c.868-6306C>G (n.868-6306C>G)
c.862-6306C>G (n.862-6306C>G)
c.441C>G (p.Val147=)
c.61-6306C>G (n.61-6306C>G)
c.442-6306C>G (n.442-6306C>G)
2g.233760728C>TCA431960430UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6306C>T (n.856-6306C>T)
c.868-6306C>T (n.868-6306C>T)
c.862-6306C>T (n.862-6306C>T)
c.441C>T (p.Val147=)
c.61-6306C>T (n.61-6306C>T)
c.442-6306C>T (n.442-6306C>T)
dbSNP gnomAD v3 gnomAD v4
2g.233760729A=CA1335889373UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6305A= (n.856-6305A=)
c.868-6305A= (n.868-6305A=)
c.862-6305A= (n.862-6305A=)
c.442A= (p.Met148=)
c.61-6305A= (n.61-6305A=)
c.442-6305A= (n.442-6305A=)
2g.233760729A>CCA351066688UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6305A>C (n.856-6305A>C)
c.868-6305A>C (n.868-6305A>C)
c.862-6305A>C (n.862-6305A>C)
c.442A>C (p.Met148Leu)
c.61-6305A>C (n.61-6305A>C)
c.442-6305A>C (n.442-6305A>C)
2g.233760729A>GCA351066689UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6305A>G (n.856-6305A>G)
c.868-6305A>G (n.868-6305A>G)
c.862-6305A>G (n.862-6305A>G)
c.442A>G (p.Met148Val)
c.61-6305A>G (n.61-6305A>G)
c.442-6305A>G (n.442-6305A>G)
dbSNP gnomAD v2 gnomAD v4
2g.233760729A>TCA351066690UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6305A>T (n.856-6305A>T)
c.868-6305A>T (n.868-6305A>T)
c.862-6305A>T (n.862-6305A>T)
c.442A>T (p.Met148Leu)
c.61-6305A>T (n.61-6305A>T)
c.442-6305A>T (n.442-6305A>T)
2g.233760730T>ACA351066691UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6304T>A (n.856-6304T>A)
c.868-6304T>A (n.868-6304T>A)
c.862-6304T>A (n.862-6304T>A)
c.443T>A (p.Met148Lys)
c.61-6304T>A (n.61-6304T>A)
c.442-6304T>A (n.442-6304T>A)
2g.233760730T>CCA351066692UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6304T>C (n.856-6304T>C)
c.868-6304T>C (n.868-6304T>C)
c.862-6304T>C (n.862-6304T>C)
c.443T>C (p.Met148Thr)
c.61-6304T>C (n.61-6304T>C)
c.442-6304T>C (n.442-6304T>C)
2g.233760730T>GCA351066693UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6304T>G (n.856-6304T>G)
c.868-6304T>G (n.868-6304T>G)
c.862-6304T>G (n.862-6304T>G)
c.443T>G (p.Met148Arg)
c.61-6304T>G (n.61-6304T>G)
c.442-6304T>G (n.442-6304T>G)
2g.233760731G>ACA351066694UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6303G>A (n.856-6303G>A)
c.868-6303G>A (n.868-6303G>A)
c.862-6303G>A (n.862-6303G>A)
c.444G>A (p.Met148Ile)
c.61-6303G>A (n.61-6303G>A)
c.442-6303G>A (n.442-6303G>A)
2g.233760731G>CCA351066695UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6303G>C (n.856-6303G>C)
c.868-6303G>C (n.868-6303G>C)
c.862-6303G>C (n.862-6303G>C)
c.444G>C (p.Met148Ile)
c.61-6303G>C (n.61-6303G>C)
c.442-6303G>C (n.442-6303G>C)
2g.233760731G>TCA351066696UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6303G>T (n.856-6303G>T)
c.868-6303G>T (n.868-6303G>T)
c.862-6303G>T (n.862-6303G>T)
c.444G>T (p.Met148Ile)
c.61-6303G>T (n.61-6303G>T)
c.442-6303G>T (n.442-6303G>T)
2g.233760732C>ACA351066697UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6302C>A (n.856-6302C>A)
c.868-6302C>A (n.868-6302C>A)
c.862-6302C>A (n.862-6302C>A)
c.445C>A (p.Leu149Met)
c.61-6302C>A (n.61-6302C>A)
c.442-6302C>A (n.442-6302C>A)
2g.233760732C>GCA351066698UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6302C>G (n.856-6302C>G)
c.868-6302C>G (n.868-6302C>G)
c.862-6302C>G (n.862-6302C>G)
c.445C>G (p.Leu149Val)
c.61-6302C>G (n.61-6302C>G)
c.442-6302C>G (n.442-6302C>G)
2g.233760732C>TCA431960431UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6302C>T (n.856-6302C>T)
c.868-6302C>T (n.868-6302C>T)
c.862-6302C>T (n.862-6302C>T)
c.445C>T (p.Leu149=)
c.61-6302C>T (n.61-6302C>T)
c.442-6302C>T (n.442-6302C>T)

Number of alleles fetched