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.233760332_233760352dup | CA2754693301 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6702_856-6682dup (n.856-6702_856-6682dup) c.868-6702_868-6682dup (n.868-6702_868-6682dup) c.862-6702_862-6682dup (n.862-6702_862-6682dup) c.45_65dup (p.Pro22_Val23insLeuLeuCysValLeuGlyPro) c.61-6702_61-6682dup (n.61-6702_61-6682dup) c.442-6702_442-6682dup (n.442-6702_442-6682dup) | |
| 2 | g.233760336C>A | CA351065305 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6698C>A (n.856-6698C>A) c.868-6698C>A (n.868-6698C>A) c.862-6698C>A (n.862-6698C>A) c.49C>A (p.Leu17Met) c.61-6698C>A (n.61-6698C>A) c.442-6698C>A (n.442-6698C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233760336C= | CA1335893841 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6698C= (n.856-6698C=) c.868-6698C= (n.868-6698C=) c.862-6698C= (n.862-6698C=) c.49C= (p.Leu17=) c.61-6698C= (n.61-6698C=) c.442-6698C= (n.442-6698C=) | |
| 2 | g.233760336C>G | CA351065309 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6698C>G (n.856-6698C>G) c.868-6698C>G (n.868-6698C>G) c.862-6698C>G (n.862-6698C>G) c.49C>G (p.Leu17Val) c.61-6698C>G (n.61-6698C>G) c.442-6698C>G (n.442-6698C>G) | |
| 2 | g.233760336C>T | CA431959897 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6698C>T (n.856-6698C>T) c.868-6698C>T (n.868-6698C>T) c.862-6698C>T (n.862-6698C>T) c.49C>T (p.Leu17=) c.61-6698C>T (n.61-6698C>T) c.442-6698C>T (n.442-6698C>T) | COSMIC COSMIC |
| 2 | g.233760337T>A | CA351065311 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6697T>A (n.856-6697T>A) c.868-6697T>A (n.868-6697T>A) c.862-6697T>A (n.862-6697T>A) c.50T>A (p.Leu17Gln) c.61-6697T>A (n.61-6697T>A) c.442-6697T>A (n.442-6697T>A) | |
| 2 | g.233760337T>C | CA351065315 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6697T>C (n.856-6697T>C) c.868-6697T>C (n.868-6697T>C) c.862-6697T>C (n.862-6697T>C) c.50T>C (p.Leu17Pro) c.61-6697T>C (n.61-6697T>C) c.442-6697T>C (n.442-6697T>C) | |
| 2 | g.233760337T>G | CA351065313 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6697T>G (n.856-6697T>G) c.868-6697T>G (n.868-6697T>G) c.862-6697T>G (n.862-6697T>G) c.50T>G (p.Leu17Arg) c.61-6697T>G (n.61-6697T>G) c.442-6697T>G (n.442-6697T>G) | |
| 2 | g.233760338G>A | CA431959901 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6696G>A (n.856-6696G>A) c.868-6696G>A (n.868-6696G>A) c.862-6696G>A (n.862-6696G>A) c.51G>A (p.Leu17=) c.61-6696G>A (n.61-6696G>A) c.442-6696G>A (n.442-6696G>A) | dbSNP |
| 2 | g.233760338G>C | CA2179767 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6696G>C (n.856-6696G>C) c.868-6696G>C (n.868-6696G>C) c.862-6696G>C (n.862-6696G>C) c.51G>C (p.Leu17=) c.61-6696G>C (n.61-6696G>C) c.442-6696G>C (n.442-6696G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233760338G= | CA1335893842 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6696G= (n.856-6696G=) c.868-6696G= (n.868-6696G=) c.862-6696G= (n.862-6696G=) c.51G= (p.Leu17=) c.61-6696G= (n.61-6696G=) c.442-6696G= (n.442-6696G=) | |
| 2 | g.233760338G>T | CA431959908 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6696G>T (n.856-6696G>T) c.868-6696G>T (n.868-6696G>T) c.862-6696G>T (n.862-6696G>T) c.51G>T (p.Leu17=) c.61-6696G>T (n.61-6696G>T) c.442-6696G>T (n.442-6696G>T) | |
| 2 | g.233760339T>A | CA351065321 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6695T>A (n.856-6695T>A) c.868-6695T>A (n.868-6695T>A) c.862-6695T>A (n.862-6695T>A) c.52T>A (p.Cys18Ser) c.61-6695T>A (n.61-6695T>A) c.442-6695T>A (n.442-6695T>A) | |
| 2 | g.233760339T>C | CA351065323 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6695T>C (n.856-6695T>C) c.868-6695T>C (n.868-6695T>C) c.862-6695T>C (n.862-6695T>C) c.52T>C (p.Cys18Arg) c.61-6695T>C (n.61-6695T>C) c.442-6695T>C (n.442-6695T>C) | dbSNP |
| 2 | g.233760339T>G | CA351065326 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6695T>G (n.856-6695T>G) c.868-6695T>G (n.868-6695T>G) c.862-6695T>G (n.862-6695T>G) c.52T>G (p.Cys18Gly) c.61-6695T>G (n.61-6695T>G) c.442-6695T>G (n.442-6695T>G) | |
| 2 | g.233760340G>A | CA351065330 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6694G>A (n.856-6694G>A) c.868-6694G>A (n.868-6694G>A) c.862-6694G>A (n.862-6694G>A) c.53G>A (p.Cys18Tyr) c.61-6694G>A (n.61-6694G>A) c.442-6694G>A (n.442-6694G>A) | dbSNP |
| 2 | g.233760340G>C | CA351065333 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6694G>C (n.856-6694G>C) c.868-6694G>C (n.868-6694G>C) c.862-6694G>C (n.862-6694G>C) c.53G>C (p.Cys18Ser) c.61-6694G>C (n.61-6694G>C) c.442-6694G>C (n.442-6694G>C) | |
| 2 | g.233760340G>T | CA351065336 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6694G>T (n.856-6694G>T) c.868-6694G>T (n.868-6694G>T) c.862-6694G>T (n.862-6694G>T) c.53G>T (p.Cys18Phe) c.61-6694G>T (n.61-6694G>T) c.442-6694G>T (n.442-6694G>T) | |
| 2 | g.233760341T>A | CA351065339 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6693T>A (n.856-6693T>A) c.868-6693T>A (n.868-6693T>A) c.862-6693T>A (n.862-6693T>A) c.54T>A (p.Cys18Ter) c.61-6693T>A (n.61-6693T>A) c.442-6693T>A (n.442-6693T>A) | |
| 2 | g.233760341T>C | CA431959912 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6693T>C (n.856-6693T>C) c.868-6693T>C (n.868-6693T>C) c.862-6693T>C (n.862-6693T>C) c.54T>C (p.Cys18=) c.61-6693T>C (n.61-6693T>C) c.442-6693T>C (n.442-6693T>C) | |
| 2 | g.233760341T>G | CA351065341 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6693T>G (n.856-6693T>G) c.868-6693T>G (n.868-6693T>G) c.862-6693T>G (n.862-6693T>G) c.54T>G (p.Cys18Trp) c.61-6693T>G (n.61-6693T>G) c.442-6693T>G (n.442-6693T>G) | dbSNP |
| 2 | g.233760342G>A | CA351065344 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6692G>A (n.856-6692G>A) c.868-6692G>A (n.868-6692G>A) c.862-6692G>A (n.862-6692G>A) c.55G>A (p.Val19Met) c.61-6692G>A (n.61-6692G>A) c.442-6692G>A (n.442-6692G>A) | dbSNP |
| 2 | g.233760342G>C | CA351065345 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6692G>C (n.856-6692G>C) c.868-6692G>C (n.868-6692G>C) c.862-6692G>C (n.862-6692G>C) c.55G>C (p.Val19Leu) c.61-6692G>C (n.61-6692G>C) c.442-6692G>C (n.442-6692G>C) | dbSNP gnomAD v4 |
| 2 | g.233760342G>T | CA351065347 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6692G>T (n.856-6692G>T) c.868-6692G>T (n.868-6692G>T) c.862-6692G>T (n.862-6692G>T) c.55G>T (p.Val19Leu) c.61-6692G>T (n.61-6692G>T) c.442-6692G>T (n.442-6692G>T) | |
| 2 | g.233760342_233760363dup | CA2663717356 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6692_856-6671dup (n.856-6692_856-6671dup) c.868-6692_868-6671dup (n.868-6692_868-6671dup) c.862-6692_862-6671dup (n.862-6692_862-6671dup) c.55_76dup (p.His26ArgfsTer?) c.61-6692_61-6671dup (n.61-6692_61-6671dup) c.442-6692_442-6671dup (n.442-6692_442-6671dup) | gnomAD v4 |
| 2 | g.233760343T>A | CA351065355 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6691T>A (n.856-6691T>A) c.868-6691T>A (n.868-6691T>A) c.862-6691T>A (n.862-6691T>A) c.56T>A (p.Val19Glu) c.61-6691T>A (n.61-6691T>A) c.442-6691T>A (n.442-6691T>A) | dbSNP |
| 2 | g.233760343T>C | CA351065349 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6691T>C (n.856-6691T>C) c.868-6691T>C (n.868-6691T>C) c.862-6691T>C (n.862-6691T>C) c.56T>C (p.Val19Ala) c.61-6691T>C (n.61-6691T>C) c.442-6691T>C (n.442-6691T>C) | |
| 2 | g.233760343T>G | CA351065352 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6691T>G (n.856-6691T>G) c.868-6691T>G (n.868-6691T>G) c.862-6691T>G (n.862-6691T>G) c.56T>G (p.Val19Gly) c.61-6691T>G (n.61-6691T>G) c.442-6691T>G (n.442-6691T>G) | dbSNP |
| 2 | g.233760344G>A | CA67589547 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6690G>A (n.856-6690G>A) c.868-6690G>A (n.868-6690G>A) c.862-6690G>A (n.862-6690G>A) c.57G>A (p.Val19=) c.61-6690G>A (n.61-6690G>A) c.442-6690G>A (n.442-6690G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760344G>C | CA431959918 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6690G>C (n.856-6690G>C) c.868-6690G>C (n.868-6690G>C) c.862-6690G>C (n.862-6690G>C) c.57G>C (p.Val19=) c.61-6690G>C (n.61-6690G>C) c.442-6690G>C (n.442-6690G>C) | dbSNP gnomAD v4 |
| 2 | g.233760344G= | CA1335893843 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6690G= (n.856-6690G=) c.868-6690G= (n.868-6690G=) c.862-6690G= (n.862-6690G=) c.57G= (p.Val19=) c.61-6690G= (n.61-6690G=) c.442-6690G= (n.442-6690G=) | |
| 2 | g.233760344G>T | CA431959917 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6690G>T (n.856-6690G>T) c.868-6690G>T (n.868-6690G>T) c.862-6690G>T (n.862-6690G>T) c.57G>T (p.Val19=) c.61-6690G>T (n.61-6690G>T) c.442-6690G>T (n.442-6690G>T) | |
| 2 | g.233760345C>A | CA351065358 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6689C>A (n.856-6689C>A) c.868-6689C>A (n.868-6689C>A) c.862-6689C>A (n.862-6689C>A) c.58C>A (p.Leu20Met) c.61-6689C>A (n.61-6689C>A) c.442-6689C>A (n.442-6689C>A) | dbSNP |
| 2 | g.233760345C>G | CA351065361 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6689C>G (n.856-6689C>G) c.868-6689C>G (n.868-6689C>G) c.862-6689C>G (n.862-6689C>G) c.58C>G (p.Leu20Val) c.61-6689C>G (n.61-6689C>G) c.442-6689C>G (n.442-6689C>G) | dbSNP |
| 2 | g.233760345C>T | CA431959919 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6689C>T (n.856-6689C>T) c.868-6689C>T (n.868-6689C>T) c.862-6689C>T (n.862-6689C>T) c.58C>T (p.Leu20=) c.61-6689C>T (n.61-6689C>T) c.442-6689C>T (n.442-6689C>T) | dbSNP |
| 2 | g.233760346T>A | CA351065365 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6688T>A (n.856-6688T>A) c.868-6688T>A (n.868-6688T>A) c.862-6688T>A (n.862-6688T>A) c.59T>A (p.Leu20Gln) c.61-6688T>A (n.61-6688T>A) c.442-6688T>A (n.442-6688T>A) | |
| 2 | g.233760346T>C | CA351065367 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6688T>C (n.856-6688T>C) c.868-6688T>C (n.868-6688T>C) c.862-6688T>C (n.862-6688T>C) c.59T>C (p.Leu20Pro) c.61-6688T>C (n.61-6688T>C) c.442-6688T>C (n.442-6688T>C) | |
| 2 | g.233760346T>G | CA351065370 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6688T>G (n.856-6688T>G) c.868-6688T>G (n.868-6688T>G) c.862-6688T>G (n.862-6688T>G) c.59T>G (p.Leu20Arg) c.61-6688T>G (n.61-6688T>G) c.442-6688T>G (n.442-6688T>G) | |
| 2 | g.233760347G>A | CA431959926 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6687G>A (n.856-6687G>A) c.868-6687G>A (n.868-6687G>A) c.862-6687G>A (n.862-6687G>A) c.60G>A (p.Leu20=) c.61-6687G>A (n.61-6687G>A) c.442-6687G>A (n.442-6687G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233760347G>C | CA431959922 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6687G>C (n.856-6687G>C) c.868-6687G>C (n.868-6687G>C) c.862-6687G>C (n.862-6687G>C) c.60G>C (p.Leu20=) c.61-6687G>C (n.61-6687G>C) c.442-6687G>C (n.442-6687G>C) | |
| 2 | g.233760347G= | CA1335893844 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6687G= (n.856-6687G=) c.868-6687G= (n.868-6687G=) c.862-6687G= (n.862-6687G=) c.60G= (p.Leu20=) c.61-6687G= (n.61-6687G=) c.442-6687G= (n.442-6687G=) | |
| 2 | g.233760347G>T | CA431959925 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6687G>T (n.856-6687G>T) c.868-6687G>T (n.868-6687G>T) c.862-6687G>T (n.862-6687G>T) c.60G>T (p.Leu20=) c.61-6687G>T (n.61-6687G>T) c.442-6687G>T (n.442-6687G>T) | |
| 2 | g.233760348G>A | CA2179768 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6686G>A (n.856-6686G>A) c.868-6686G>A (n.868-6686G>A) c.862-6686G>A (n.862-6686G>A) c.61G>A (p.Gly21Ser) c.61-6686G>A (n.61-6686G>A) c.442-6686G>A (n.442-6686G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760348G>C | CA351065376 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6686G>C (n.856-6686G>C) c.868-6686G>C (n.868-6686G>C) c.862-6686G>C (n.862-6686G>C) c.61G>C (p.Gly21Arg) c.61-6686G>C (n.61-6686G>C) c.442-6686G>C (n.442-6686G>C) | |
| 2 | g.233760348G= | CA1335893845 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6686G= (n.856-6686G=) c.868-6686G= (n.868-6686G=) c.862-6686G= (n.862-6686G=) c.61G= (p.Gly21=) c.61-6686G= (n.61-6686G=) c.442-6686G= (n.442-6686G=) | |
| 2 | g.233760348G>T | CA351065377 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6686G>T (n.856-6686G>T) c.868-6686G>T (n.868-6686G>T) c.862-6686G>T (n.862-6686G>T) c.61G>T (p.Gly21Cys) c.61-6686G>T (n.61-6686G>T) c.442-6686G>T (n.442-6686G>T) | |
| 2 | g.233760349G>A | CA351065382 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6685G>A (n.856-6685G>A) c.868-6685G>A (n.868-6685G>A) c.862-6685G>A (n.862-6685G>A) c.62G>A (p.Gly21Asp) c.61-6685G>A (n.61-6685G>A) c.442-6685G>A (n.442-6685G>A) | |
| 2 | g.233760349G>C | CA351065384 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6685G>C (n.856-6685G>C) c.868-6685G>C (n.868-6685G>C) c.862-6685G>C (n.862-6685G>C) c.62G>C (p.Gly21Ala) c.61-6685G>C (n.61-6685G>C) c.442-6685G>C (n.442-6685G>C) | gnomAD v4 |
| 2 | g.233760349G>T | CA351065387 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6685G>T (n.856-6685G>T) c.868-6685G>T (n.868-6685G>T) c.862-6685G>T (n.862-6685G>T) c.62G>T (p.Gly21Val) c.61-6685G>T (n.61-6685G>T) c.442-6685G>T (n.442-6685G>T) | |
| 2 | g.233760350C>A | CA431959936 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6684C>A (n.856-6684C>A) c.868-6684C>A (n.868-6684C>A) c.862-6684C>A (n.862-6684C>A) c.63C>A (p.Gly21=) c.61-6684C>A (n.61-6684C>A) c.442-6684C>A (n.442-6684C>A) |