Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760630A=CA1335889271UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6404A= (n.856-6404A=)
c.868-6404A= (n.868-6404A=)
c.862-6404A= (n.862-6404A=)
c.343A= (p.Lys115=)
c.61-6404A= (n.61-6404A=)
c.442-6404A= (n.442-6404A=)
2g.233760630A>CCA351066466UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6404A>C (n.856-6404A>C)
c.868-6404A>C (n.868-6404A>C)
c.862-6404A>C (n.862-6404A>C)
c.343A>C (p.Lys115Gln)
c.61-6404A>C (n.61-6404A>C)
c.442-6404A>C (n.442-6404A>C)
2g.233760630A>GCA2179809UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6404A>G (n.856-6404A>G)
c.868-6404A>G (n.868-6404A>G)
c.862-6404A>G (n.862-6404A>G)
c.343A>G (p.Lys115Glu)
c.61-6404A>G (n.61-6404A>G)
c.442-6404A>G (n.442-6404A>G)
 dbSNP ExAC gnomAD v4
2g.233760630A>TCA351066467UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6404A>T (n.856-6404A>T)
c.868-6404A>T (n.868-6404A>T)
c.862-6404A>T (n.862-6404A>T)
c.343A>T (p.Lys115Ter)
c.61-6404A>T (n.61-6404A>T)
c.442-6404A>T (n.442-6404A>T)
2g.233760631A>CCA351066468UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6403A>C (n.856-6403A>C)
c.868-6403A>C (n.868-6403A>C)
c.862-6403A>C (n.862-6403A>C)
c.344A>C (p.Lys115Thr)
c.61-6403A>C (n.61-6403A>C)
c.442-6403A>C (n.442-6403A>C)
2g.233760631A>GCA351066469UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6403A>G (n.856-6403A>G)
c.868-6403A>G (n.868-6403A>G)
c.862-6403A>G (n.862-6403A>G)
c.344A>G (p.Lys115Arg)
c.61-6403A>G (n.61-6403A>G)
c.442-6403A>G (n.442-6403A>G)
2g.233760631A>TCA351066470UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6403A>T (n.856-6403A>T)
c.868-6403A>T (n.868-6403A>T)
c.862-6403A>T (n.862-6403A>T)
c.344A>T (p.Lys115Ile)
c.61-6403A>T (n.61-6403A>T)
c.442-6403A>T (n.442-6403A>T)
2g.233760632A=CA1335889273UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6402A= (n.856-6402A=)
c.868-6402A= (n.868-6402A=)
c.862-6402A= (n.862-6402A=)
c.345A= (p.Lys115=)
c.61-6402A= (n.61-6402A=)
c.442-6402A= (n.442-6402A=)
2g.233760632A>CCA2179810UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6402A>C (n.856-6402A>C)
c.868-6402A>C (n.868-6402A>C)
c.862-6402A>C (n.862-6402A>C)
c.345A>C (p.Lys115Asn)
c.61-6402A>C (n.61-6402A>C)
c.442-6402A>C (n.442-6402A>C)
 dbSNP ExAC
2g.233760632A>GCA431960342UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6402A>G (n.856-6402A>G)
c.868-6402A>G (n.868-6402A>G)
c.862-6402A>G (n.862-6402A>G)
c.345A>G (p.Lys115=)
c.61-6402A>G (n.61-6402A>G)
c.442-6402A>G (n.442-6402A>G)
2g.233760632A>TCA351066471UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6402A>T (n.856-6402A>T)
c.868-6402A>T (n.868-6402A>T)
c.862-6402A>T (n.862-6402A>T)
c.345A>T (p.Lys115Asn)
c.61-6402A>T (n.61-6402A>T)
c.442-6402A>T (n.442-6402A>T)
 dbSNP gnomAD v2
2g.233760633A=CA1335889275UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6401A= (n.856-6401A=)
c.868-6401A= (n.868-6401A=)
c.862-6401A= (n.862-6401A=)
c.346A= (p.Ile116=)
c.61-6401A= (n.61-6401A=)
c.442-6401A= (n.442-6401A=)
2g.233760633A>CCA351066472UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6401A>C (n.856-6401A>C)
c.868-6401A>C (n.868-6401A>C)
c.862-6401A>C (n.862-6401A>C)
c.346A>C (p.Ile116Leu)
c.61-6401A>C (n.61-6401A>C)
c.442-6401A>C (n.442-6401A>C)
2g.233760633A>GCA351066474UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6401A>G (n.856-6401A>G)
c.868-6401A>G (n.868-6401A>G)
c.862-6401A>G (n.862-6401A>G)
c.346A>G (p.Ile116Val)
c.61-6401A>G (n.61-6401A>G)
c.442-6401A>G (n.442-6401A>G)
 dbSNP
2g.233760633A>TCA351066473UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6401A>T (n.856-6401A>T)
c.868-6401A>T (n.868-6401A>T)
c.862-6401A>T (n.862-6401A>T)
c.346A>T (p.Ile116Leu)
c.61-6401A>T (n.61-6401A>T)
c.442-6401A>T (n.442-6401A>T)
2g.233760634T>ACA67589812UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6400T>A (n.856-6400T>A)
c.868-6400T>A (n.868-6400T>A)
c.862-6400T>A (n.862-6400T>A)
c.347T>A (p.Ile116Lys)
c.61-6400T>A (n.61-6400T>A)
c.442-6400T>A (n.442-6400T>A)
 dbSNP gnomAD v2 COSMIC
2g.233760634T>CCA351066475UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6400T>C (n.856-6400T>C)
c.868-6400T>C (n.868-6400T>C)
c.862-6400T>C (n.862-6400T>C)
c.347T>C (p.Ile116Thr)
c.61-6400T>C (n.61-6400T>C)
c.442-6400T>C (n.442-6400T>C)
2g.233760634T>GCA351066476UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6400T>G (n.856-6400T>G)
c.868-6400T>G (n.868-6400T>G)
c.862-6400T>G (n.862-6400T>G)
c.347T>G (p.Ile116Arg)
c.61-6400T>G (n.61-6400T>G)
c.442-6400T>G (n.442-6400T>G)
2g.233760634T=CA1335889278UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6400T= (n.856-6400T=)
c.868-6400T= (n.868-6400T=)
c.862-6400T= (n.862-6400T=)
c.347T= (p.Ile116=)
c.61-6400T= (n.61-6400T=)
c.442-6400T= (n.442-6400T=)
2g.233760635A=CA1335889284UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6399A= (n.856-6399A=)
c.868-6399A= (n.868-6399A=)
c.862-6399A= (n.862-6399A=)
c.348A= (p.Ile116=)
c.61-6399A= (n.61-6399A=)
c.442-6399A= (n.442-6399A=)
2g.233760635A>CCA431960344UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6399A>C (n.856-6399A>C)
c.868-6399A>C (n.868-6399A>C)
c.862-6399A>C (n.862-6399A>C)
c.348A>C (p.Ile116=)
c.61-6399A>C (n.61-6399A>C)
c.442-6399A>C (n.442-6399A>C)
2g.233760635A>GCA351066477UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6399A>G (n.856-6399A>G)
c.868-6399A>G (n.868-6399A>G)
c.862-6399A>G (n.862-6399A>G)
c.348A>G (p.Ile116Met)
c.61-6399A>G (n.61-6399A>G)
c.442-6399A>G (n.442-6399A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.233760635A>TCA431960345UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6399A>T (n.856-6399A>T)
c.868-6399A>T (n.868-6399A>T)
c.862-6399A>T (n.862-6399A>T)
c.348A>T (p.Ile116=)
c.61-6399A>T (n.61-6399A>T)
c.442-6399A>T (n.442-6399A>T)
2g.233760640dupCA2179811UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6394dup (n.856-6394dup)
c.868-6394dup (n.868-6394dup)
c.862-6394dup (n.862-6394dup)
c.353dup (p.Asp119GlyfsTer28)
c.61-6394dup (n.61-6394dup)
c.442-6394dup (n.442-6394dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760640delCA2577284378UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6394del (n.856-6394del)
c.868-6394del (n.868-6394del)
c.862-6394del (n.862-6394del)
c.353del (p.Lys118ArgfsTer?)
c.61-6394del (n.61-6394del)
c.442-6394del (n.442-6394del)
2g.233760636A=CA1335889286UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6398A= (n.856-6398A=)
c.868-6398A= (n.868-6398A=)
c.862-6398A= (n.862-6398A=)
c.349A= (p.Lys117=)
c.61-6398A= (n.61-6398A=)
c.442-6398A= (n.442-6398A=)
2g.233760636A>CCA351066478UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6398A>C (n.856-6398A>C)
c.868-6398A>C (n.868-6398A>C)
c.862-6398A>C (n.862-6398A>C)
c.349A>C (p.Lys117Gln)
c.61-6398A>C (n.61-6398A>C)
c.442-6398A>C (n.442-6398A>C)
2g.233760636A>GCA351066479UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6398A>G (n.856-6398A>G)
c.868-6398A>G (n.868-6398A>G)
c.862-6398A>G (n.862-6398A>G)
c.349A>G (p.Lys117Glu)
c.61-6398A>G (n.61-6398A>G)
c.442-6398A>G (n.442-6398A>G)
 dbSNP gnomAD v4
2g.233760636A>TCA351066480UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6398A>T (n.856-6398A>T)
c.868-6398A>T (n.868-6398A>T)
c.862-6398A>T (n.862-6398A>T)
c.349A>T (p.Lys117Ter)
c.61-6398A>T (n.61-6398A>T)
c.442-6398A>T (n.442-6398A>T)
2g.233760637A=CA1335889288UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6397A= (n.856-6397A=)
c.868-6397A= (n.868-6397A=)
c.862-6397A= (n.862-6397A=)
c.350A= (p.Lys117=)
c.61-6397A= (n.61-6397A=)
c.442-6397A= (n.442-6397A=)
2g.233760637A>CCA351066481UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6397A>C (n.856-6397A>C)
c.868-6397A>C (n.868-6397A>C)
c.862-6397A>C (n.862-6397A>C)
c.350A>C (p.Lys117Thr)
c.61-6397A>C (n.61-6397A>C)
c.442-6397A>C (n.442-6397A>C)
 COSMIC
2g.233760637A>GCA351066482UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6397A>G (n.856-6397A>G)
c.868-6397A>G (n.868-6397A>G)
c.862-6397A>G (n.862-6397A>G)
c.350A>G (p.Lys117Arg)
c.61-6397A>G (n.61-6397A>G)
c.442-6397A>G (n.442-6397A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.233760637A>TCA351066483UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6397A>T (n.856-6397A>T)
c.868-6397A>T (n.868-6397A>T)
c.862-6397A>T (n.862-6397A>T)
c.350A>T (p.Lys117Ile)
c.61-6397A>T (n.61-6397A>T)
c.442-6397A>T (n.442-6397A>T)
2g.233760638A=CA1335889290UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6396A= (n.856-6396A=)
c.868-6396A= (n.868-6396A=)
c.862-6396A= (n.862-6396A=)
c.351A= (p.Lys117=)
c.61-6396A= (n.61-6396A=)
c.442-6396A= (n.442-6396A=)
2g.233760638A>CCA2179812UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6396A>C (n.856-6396A>C)
c.868-6396A>C (n.868-6396A>C)
c.862-6396A>C (n.862-6396A>C)
c.351A>C (p.Lys117Asn)
c.61-6396A>C (n.61-6396A>C)
c.442-6396A>C (n.442-6396A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760638A>GCA431960347UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6396A>G (n.856-6396A>G)
c.868-6396A>G (n.868-6396A>G)
c.862-6396A>G (n.862-6396A>G)
c.351A>G (p.Lys117=)
c.61-6396A>G (n.61-6396A>G)
c.442-6396A>G (n.442-6396A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233760638A>TCA351066484UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6396A>T (n.856-6396A>T)
c.868-6396A>T (n.868-6396A>T)
c.862-6396A>T (n.862-6396A>T)
c.351A>T (p.Lys117Asn)
c.61-6396A>T (n.61-6396A>T)
c.442-6396A>T (n.442-6396A>T)
2g.233760639A>CCA351066487UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6395A>C (n.856-6395A>C)
c.868-6395A>C (n.868-6395A>C)
c.862-6395A>C (n.862-6395A>C)
c.352A>C (p.Lys118Gln)
c.61-6395A>C (n.61-6395A>C)
c.442-6395A>C (n.442-6395A>C)
2g.233760639A>GCA351066486UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6395A>G (n.856-6395A>G)
c.868-6395A>G (n.868-6395A>G)
c.862-6395A>G (n.862-6395A>G)
c.352A>G (p.Lys118Glu)
c.61-6395A>G (n.61-6395A>G)
c.442-6395A>G (n.442-6395A>G)
 gnomAD v4
2g.233760639A>TCA351066485UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6395A>T (n.856-6395A>T)
c.868-6395A>T (n.868-6395A>T)
c.862-6395A>T (n.862-6395A>T)
c.352A>T (p.Lys118Ter)
c.61-6395A>T (n.61-6395A>T)
c.442-6395A>T (n.442-6395A>T)
2g.233760640A>CCA351066488UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6394A>C (n.856-6394A>C)
c.868-6394A>C (n.868-6394A>C)
c.862-6394A>C (n.862-6394A>C)
c.353A>C (p.Lys118Thr)
c.61-6394A>C (n.61-6394A>C)
c.442-6394A>C (n.442-6394A>C)
2g.233760640A>GCA351066489UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6394A>G (n.856-6394A>G)
c.868-6394A>G (n.868-6394A>G)
c.862-6394A>G (n.862-6394A>G)
c.353A>G (p.Lys118Arg)
c.61-6394A>G (n.61-6394A>G)
c.442-6394A>G (n.442-6394A>G)
2g.233760640A>TCA351066490UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6394A>T (n.856-6394A>T)
c.868-6394A>T (n.868-6394A>T)
c.862-6394A>T (n.862-6394A>T)
c.353A>T (p.Lys118Met)
c.61-6394A>T (n.61-6394A>T)
c.442-6394A>T (n.442-6394A>T)
2g.233760641G>ACA431960349UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6393G>A (n.856-6393G>A)
c.868-6393G>A (n.868-6393G>A)
c.862-6393G>A (n.862-6393G>A)
c.354G>A (p.Lys118=)
c.61-6393G>A (n.61-6393G>A)
c.442-6393G>A (n.442-6393G>A)
2g.233760641G>CCA351066491UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6393G>C (n.856-6393G>C)
c.868-6393G>C (n.868-6393G>C)
c.862-6393G>C (n.862-6393G>C)
c.354G>C (p.Lys118Asn)
c.61-6393G>C (n.61-6393G>C)
c.442-6393G>C (n.442-6393G>C)
2g.233760641G=CA1335889292UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6393G= (n.856-6393G=)
c.868-6393G= (n.868-6393G=)
c.862-6393G= (n.862-6393G=)
c.354G= (p.Lys118=)
c.61-6393G= (n.61-6393G=)
c.442-6393G= (n.442-6393G=)
2g.233760641G>TCA2179813UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6393G>T (n.856-6393G>T)
c.868-6393G>T (n.868-6393G>T)
c.862-6393G>T (n.862-6393G>T)
c.354G>T (p.Lys118Asn)
c.61-6393G>T (n.61-6393G>T)
c.442-6393G>T (n.442-6393G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760642G>ACA351066492UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6392G>A (n.856-6392G>A)
c.868-6392G>A (n.868-6392G>A)
c.862-6392G>A (n.862-6392G>A)
c.355G>A (p.Asp119Asn)
c.61-6392G>A (n.61-6392G>A)
c.442-6392G>A (n.442-6392G>A)
 ClinVar
2g.233760642G>CCA351066493UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6392G>C (n.856-6392G>C)
c.868-6392G>C (n.868-6392G>C)
c.862-6392G>C (n.862-6392G>C)
c.355G>C (p.Asp119His)
c.61-6392G>C (n.61-6392G>C)
c.442-6392G>C (n.442-6392G>C)
2g.233760642G>TCA351066494UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6392G>T (n.856-6392G>T)
c.868-6392G>T (n.868-6392G>T)
c.862-6392G>T (n.862-6392G>T)
c.355G>T (p.Asp119Tyr)
c.61-6392G>T (n.61-6392G>T)
c.442-6392G>T (n.442-6392G>T)

Number of alleles fetched