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.233760671C>A | CA431960396 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760671C>G | CA431960398 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760671C>T | CA431960397 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760672C>A | CA351066558 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760672C= | CA1335889320 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760672C>G | CA351066557 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760672C>T | CA351066556 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760673A= | CA1335889322 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760673A>C | CA351066559 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760673A>G | CA351066560 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760673A>T | CA351066561 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760674C>A | CA351066562 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760674C= | CA1335889325 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760674C>G | CA351066563 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760674C>T | CA431960399 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760675T>A | CA351066564 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760675T>C | CA431960400 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760675T>G | CA351066565 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760676dup | CA2499215797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760676T>A | CA351066566 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760676T>C | CA351066568 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760676T>G | CA351066567 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760677A= | CA1335889328 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760677A>C | CA351066569 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760677A>G | CA431960401 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760677A>T | CA2179818 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760677dup | CA2577284379 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760678C>A | CA351066570 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760678C>G | CA351066571 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760678C>T | CA431960402 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760679T>A | CA351066572 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760679T>C | CA351066574 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760679T>G | CA351066573 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760679T= | CA1335889330 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760680G>A | CA431960405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760680G>C | CA431960404 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760680G>T | CA431960403 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760681C>A | CA2179819 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760681C= | CA1335889334 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
| 2 | g.233760681C>G | CA351066575 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760681C>T | CA351066576 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760681_233760684delinsCACA | CA1335889333 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760682A>C | CA351066577 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760682A>G | CA351066578 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760682A>T | CA351066579 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760686_233760688del | CA1043554810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760683_233760688del | CA2580066074 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760683C>A | CA351066580 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
| 2 | g.233760683C>G | CA351066581 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
| 2 | g.233760683C>T | CA431960406 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) |