WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233760626C>A | CA351066456 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C>A (n.856-6408C>A) c.868-6408C>A (n.868-6408C>A) c.862-6408C>A (n.862-6408C>A) c.339C>A (p.Tyr113Ter) c.61-6408C>A (n.61-6408C>A) c.442-6408C>A (n.442-6408C>A) | dbSNP |
| 2 | g.233760626C= | CA1335889268 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C= (n.856-6408C=) c.868-6408C= (n.868-6408C=) c.862-6408C= (n.862-6408C=) c.339C= (p.Tyr113=) c.61-6408C= (n.61-6408C=) c.442-6408C= (n.442-6408C=) | |
| 2 | g.233760626C>G | CA351066457 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C>G (n.856-6408C>G) c.868-6408C>G (n.868-6408C>G) c.862-6408C>G (n.862-6408C>G) c.339C>G (p.Tyr113Ter) c.61-6408C>G (n.61-6408C>G) c.442-6408C>G (n.442-6408C>G) | |
| 2 | g.233760626C>T | CA431960338 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6408C>T (n.856-6408C>T) c.868-6408C>T (n.868-6408C>T) c.862-6408C>T (n.862-6408C>T) c.339C>T (p.Tyr113=) c.61-6408C>T (n.61-6408C>T) c.442-6408C>T (n.442-6408C>T) | |
| 2 | g.233760627A>C | CA351066460 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6407A>C (n.856-6407A>C) c.868-6407A>C (n.868-6407A>C) c.862-6407A>C (n.862-6407A>C) c.340A>C (p.Lys114Gln) c.61-6407A>C (n.61-6407A>C) c.442-6407A>C (n.442-6407A>C) | |
| 2 | g.233760627A>G | CA351066458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6407A>G (n.856-6407A>G) c.868-6407A>G (n.868-6407A>G) c.862-6407A>G (n.862-6407A>G) c.340A>G (p.Lys114Glu) c.61-6407A>G (n.61-6407A>G) c.442-6407A>G (n.442-6407A>G) | |
| 2 | g.233760627A>T | CA351066459 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6407A>T (n.856-6407A>T) c.868-6407A>T (n.868-6407A>T) c.862-6407A>T (n.862-6407A>T) c.340A>T (p.Lys114Ter) c.61-6407A>T (n.61-6407A>T) c.442-6407A>T (n.442-6407A>T) | |
| 2 | g.233760628A>C | CA351066461 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6406A>C (n.856-6406A>C) c.868-6406A>C (n.868-6406A>C) c.862-6406A>C (n.862-6406A>C) c.341A>C (p.Lys114Thr) c.61-6406A>C (n.61-6406A>C) c.442-6406A>C (n.442-6406A>C) | |
| 2 | g.233760628A>G | CA351066462 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6406A>G (n.856-6406A>G) c.868-6406A>G (n.868-6406A>G) c.862-6406A>G (n.862-6406A>G) c.341A>G (p.Lys114Arg) c.61-6406A>G (n.61-6406A>G) c.442-6406A>G (n.442-6406A>G) | |
| 2 | g.233760628A>T | CA351066463 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6406A>T (n.856-6406A>T) c.868-6406A>T (n.868-6406A>T) c.862-6406A>T (n.862-6406A>T) c.341A>T (p.Lys114Met) c.61-6406A>T (n.61-6406A>T) c.442-6406A>T (n.442-6406A>T) | COSMIC COSMIC |
| 2 | g.233760629G>A | CA431960339 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G>A (n.856-6405G>A) c.868-6405G>A (n.868-6405G>A) c.862-6405G>A (n.862-6405G>A) c.342G>A (p.Lys114=) c.61-6405G>A (n.61-6405G>A) c.442-6405G>A (n.442-6405G>A) | gnomAD v4 |
| 2 | g.233760629G>C | CA351066464 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G>C (n.856-6405G>C) c.868-6405G>C (n.868-6405G>C) c.862-6405G>C (n.862-6405G>C) c.342G>C (p.Lys114Asn) c.61-6405G>C (n.61-6405G>C) c.442-6405G>C (n.442-6405G>C) | gnomAD v4 |
| 2 | g.233760629G= | CA1335889269 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G= (n.856-6405G=) c.868-6405G= (n.868-6405G=) c.862-6405G= (n.862-6405G=) c.342G= (p.Lys114=) c.61-6405G= (n.61-6405G=) c.442-6405G= (n.442-6405G=) | |
| 2 | g.233760629G>T | CA351066465 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6405G>T (n.856-6405G>T) c.868-6405G>T (n.868-6405G>T) c.862-6405G>T (n.862-6405G>T) c.342G>T (p.Lys114Asn) c.61-6405G>T (n.61-6405G>T) c.442-6405G>T (n.442-6405G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233760630A= | CA1335889271 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760630A>C | CA351066466 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760630A>G | CA2179809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760630A>T | CA351066467 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760631A>C | CA351066468 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760631A>G | CA351066469 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760631A>T | CA351066470 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760632A= | CA1335889273 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760632A>C | CA2179810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760632A>G | CA431960342 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760632A>T | CA351066471 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760633A= | CA1335889275 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760633A>C | CA351066472 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760633A>G | CA351066474 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760633A>T | CA351066473 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760634T>A | CA67589812 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760634T>C | CA351066475 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760634T>G | CA351066476 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760634T= | CA1335889278 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760635A= | CA1335889284 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760635A>C | CA431960344 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760635A>G | CA351066477 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760635A>T | CA431960345 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760640dup | CA2179811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760640del | CA2577284378 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760636A= | CA1335889286 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760636A>C | CA351066478 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760636A>G | CA351066479 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760636A>T | CA351066480 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760637A= | CA1335889288 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760637A>C | CA351066481 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760637A>G | CA351066482 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760637A>T | CA351066483 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760638A= | CA1335889290 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760638A>C | CA2179812 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760638A>G | CA431960347 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |