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.233760573G>A | CA351066335 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6461G>A (n.856-6461G>A) c.868-6461G>A (n.868-6461G>A) c.862-6461G>A (n.862-6461G>A) c.286G>A (p.Gly96Arg) c.61-6461G>A (n.61-6461G>A) c.442-6461G>A (n.442-6461G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760573G>C | CA351066336 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6461G>C (n.856-6461G>C) c.868-6461G>C (n.868-6461G>C) c.862-6461G>C (n.862-6461G>C) c.286G>C (p.Gly96Arg) c.61-6461G>C (n.61-6461G>C) c.442-6461G>C (n.442-6461G>C) | dbSNP gnomAD v4 COSMIC |
| 2 | g.233760573G= | CA1335889231 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6461G= (n.856-6461G=) c.868-6461G= (n.868-6461G=) c.862-6461G= (n.862-6461G=) c.286G= (p.Gly96=) c.61-6461G= (n.61-6461G=) c.442-6461G= (n.442-6461G=) | |
| 2 | g.233760573G>T | CA351066337 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6461G>T (n.856-6461G>T) c.868-6461G>T (n.868-6461G>T) c.862-6461G>T (n.862-6461G>T) c.286G>T (p.Gly96Trp) c.61-6461G>T (n.61-6461G>T) c.442-6461G>T (n.442-6461G>T) | |
| 2 | g.233760574G>A | CA351066340 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6460G>A (n.856-6460G>A) c.868-6460G>A (n.868-6460G>A) c.862-6460G>A (n.862-6460G>A) c.287G>A (p.Gly96Glu) c.61-6460G>A (n.61-6460G>A) c.442-6460G>A (n.442-6460G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233760574G>C | CA351066339 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6460G>C (n.856-6460G>C) c.868-6460G>C (n.868-6460G>C) c.862-6460G>C (n.862-6460G>C) c.287G>C (p.Gly96Ala) c.61-6460G>C (n.61-6460G>C) c.442-6460G>C (n.442-6460G>C) | dbSNP |
| 2 | g.233760574G= | CA1335889233 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6460G= (n.856-6460G=) c.868-6460G= (n.868-6460G=) c.862-6460G= (n.862-6460G=) c.287G= (p.Gly96=) c.61-6460G= (n.61-6460G=) c.442-6460G= (n.442-6460G=) | |
| 2 | g.233760574G>T | CA351066338 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6460G>T (n.856-6460G>T) c.868-6460G>T (n.868-6460G>T) c.862-6460G>T (n.862-6460G>T) c.287G>T (p.Gly96Val) c.61-6460G>T (n.61-6460G>T) c.442-6460G>T (n.442-6460G>T) | dbSNP |
| 2 | g.233760575G>A | CA2179802 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6459G>A (n.856-6459G>A) c.868-6459G>A (n.868-6459G>A) c.862-6459G>A (n.862-6459G>A) c.288G>A (p.Gly96=) c.61-6459G>A (n.61-6459G>A) c.442-6459G>A (n.442-6459G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760575G>C | CA431960267 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6459G>C (n.856-6459G>C) c.868-6459G>C (n.868-6459G>C) c.862-6459G>C (n.862-6459G>C) c.288G>C (p.Gly96=) c.61-6459G>C (n.61-6459G>C) c.442-6459G>C (n.442-6459G>C) | gnomAD v4 |
| 2 | g.233760575G= | CA1335889237 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6459G= (n.856-6459G=) c.868-6459G= (n.868-6459G=) c.862-6459G= (n.862-6459G=) c.288G= (p.Gly96=) c.61-6459G= (n.61-6459G=) c.442-6459G= (n.442-6459G=) | |
| 2 | g.233760575G>T | CA431960269 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6459G>T (n.856-6459G>T) c.868-6459G>T (n.868-6459G>T) c.862-6459G>T (n.862-6459G>T) c.288G>T (p.Gly96=) c.61-6459G>T (n.61-6459G>T) c.442-6459G>T (n.442-6459G>T) | |
| 2 | g.233760576C>A | CA351066341 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6458C>A (n.856-6458C>A) c.868-6458C>A (n.868-6458C>A) c.862-6458C>A (n.862-6458C>A) c.289C>A (p.His97Asn) c.61-6458C>A (n.61-6458C>A) c.442-6458C>A (n.442-6458C>A) | dbSNP |
| 2 | g.233760576C>G | CA351066342 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6458C>G (n.856-6458C>G) c.868-6458C>G (n.868-6458C>G) c.862-6458C>G (n.862-6458C>G) c.289C>G (p.His97Asp) c.61-6458C>G (n.61-6458C>G) c.442-6458C>G (n.442-6458C>G) | dbSNP |
| 2 | g.233760576C>T | CA351066343 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6458C>T (n.856-6458C>T) c.868-6458C>T (n.868-6458C>T) c.862-6458C>T (n.862-6458C>T) c.289C>T (p.His97Tyr) c.61-6458C>T (n.61-6458C>T) c.442-6458C>T (n.442-6458C>T) | dbSNP |
| 2 | g.233760577A= | CA1335889240 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6457A= (n.856-6457A=) c.868-6457A= (n.868-6457A=) c.862-6457A= (n.862-6457A=) c.290A= (p.His97=) c.61-6457A= (n.61-6457A=) c.442-6457A= (n.442-6457A=) | |
| 2 | g.233760577A>C | CA351066344 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6457A>C (n.856-6457A>C) c.868-6457A>C (n.868-6457A>C) c.862-6457A>C (n.862-6457A>C) c.290A>C (p.His97Pro) c.61-6457A>C (n.61-6457A>C) c.442-6457A>C (n.442-6457A>C) | |
| 2 | g.233760577A>G | CA351066345 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6457A>G (n.856-6457A>G) c.868-6457A>G (n.868-6457A>G) c.862-6457A>G (n.862-6457A>G) c.290A>G (p.His97Arg) c.61-6457A>G (n.61-6457A>G) c.442-6457A>G (n.442-6457A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760577A>T | CA351066346 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6457A>T (n.856-6457A>T) c.868-6457A>T (n.868-6457A>T) c.862-6457A>T (n.862-6457A>T) c.290A>T (p.His97Leu) c.61-6457A>T (n.61-6457A>T) c.442-6457A>T (n.442-6457A>T) | |
| 2 | g.233760579_233760581del | CA2663717387 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6455_856-6453del (n.856-6455_856-6453del) c.868-6455_868-6453del (n.868-6455_868-6453del) c.862-6455_862-6453del (n.862-6455_862-6453del) c.292_294del (p.Asn98del) c.61-6455_61-6453del (n.61-6455_61-6453del) c.442-6455_442-6453del (n.442-6455_442-6453del) | gnomAD v4 |
| 2 | g.233760578T>A | CA351066347 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6456T>A (n.856-6456T>A) c.868-6456T>A (n.868-6456T>A) c.862-6456T>A (n.862-6456T>A) c.291T>A (p.His97Gln) c.61-6456T>A (n.61-6456T>A) c.442-6456T>A (n.442-6456T>A) | dbSNP |
| 2 | g.233760578T>C | CA431960271 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6456T>C (n.856-6456T>C) c.868-6456T>C (n.868-6456T>C) c.862-6456T>C (n.862-6456T>C) c.291T>C (p.His97=) c.61-6456T>C (n.61-6456T>C) c.442-6456T>C (n.442-6456T>C) | dbSNP |
| 2 | g.233760578T>G | CA351066348 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6456T>G (n.856-6456T>G) c.868-6456T>G (n.868-6456T>G) c.862-6456T>G (n.862-6456T>G) c.291T>G (p.His97Gln) c.61-6456T>G (n.61-6456T>G) c.442-6456T>G (n.442-6456T>G) | |
| 2 | g.233760579A>C | CA351066349 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6455A>C (n.856-6455A>C) c.868-6455A>C (n.868-6455A>C) c.862-6455A>C (n.862-6455A>C) c.292A>C (p.Asn98His) c.61-6455A>C (n.61-6455A>C) c.442-6455A>C (n.442-6455A>C) | |
| 2 | g.233760579A>G | CA351066350 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6455A>G (n.856-6455A>G) c.868-6455A>G (n.868-6455A>G) c.862-6455A>G (n.862-6455A>G) c.292A>G (p.Asn98Asp) c.61-6455A>G (n.61-6455A>G) c.442-6455A>G (n.442-6455A>G) | dbSNP gnomAD v4 |
| 2 | g.233760579A>T | CA351066351 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6455A>T (n.856-6455A>T) c.868-6455A>T (n.868-6455A>T) c.862-6455A>T (n.862-6455A>T) c.292A>T (p.Asn98Tyr) c.61-6455A>T (n.61-6455A>T) c.442-6455A>T (n.442-6455A>T) | gnomAD v4 |
| 2 | g.233760580A= | CA1335889242 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6454A= (n.856-6454A=) c.868-6454A= (n.868-6454A=) c.862-6454A= (n.862-6454A=) c.293A= (p.Asn98=) c.61-6454A= (n.61-6454A=) c.442-6454A= (n.442-6454A=) | |
| 2 | g.233760580A>C | CA351066352 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6454A>C (n.856-6454A>C) c.868-6454A>C (n.868-6454A>C) c.862-6454A>C (n.862-6454A>C) c.293A>C (p.Asn98Thr) c.61-6454A>C (n.61-6454A>C) c.442-6454A>C (n.442-6454A>C) | |
| 2 | g.233760580A>G | CA351066354 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6454A>G (n.856-6454A>G) c.868-6454A>G (n.868-6454A>G) c.862-6454A>G (n.862-6454A>G) c.293A>G (p.Asn98Ser) c.61-6454A>G (n.61-6454A>G) c.442-6454A>G (n.442-6454A>G) | gnomAD v4 |
| 2 | g.233760580A>T | CA351066353 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6454A>T (n.856-6454A>T) c.868-6454A>T (n.868-6454A>T) c.862-6454A>T (n.862-6454A>T) c.293A>T (p.Asn98Ile) c.61-6454A>T (n.61-6454A>T) c.442-6454A>T (n.442-6454A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233760581T>A | CA351066355 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6453T>A (n.856-6453T>A) c.868-6453T>A (n.868-6453T>A) c.862-6453T>A (n.862-6453T>A) c.294T>A (p.Asn98Lys) c.61-6453T>A (n.61-6453T>A) c.442-6453T>A (n.442-6453T>A) | dbSNP |
| 2 | g.233760581T>C | CA2179803 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6453T>C (n.856-6453T>C) c.868-6453T>C (n.868-6453T>C) c.862-6453T>C (n.862-6453T>C) c.294T>C (p.Asn98=) c.61-6453T>C (n.61-6453T>C) c.442-6453T>C (n.442-6453T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760581T>G | CA351066356 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6453T>G (n.856-6453T>G) c.868-6453T>G (n.868-6453T>G) c.862-6453T>G (n.862-6453T>G) c.294T>G (p.Asn98Lys) c.61-6453T>G (n.61-6453T>G) c.442-6453T>G (n.442-6453T>G) | |
| 2 | g.233760581T= | CA1335889243 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6453T= (n.856-6453T=) c.868-6453T= (n.868-6453T=) c.862-6453T= (n.862-6453T=) c.294T= (p.Asn98=) c.61-6453T= (n.61-6453T=) c.442-6453T= (n.442-6453T=) | |
| 2 | g.233760582G>A | CA351066357 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6452G>A (n.856-6452G>A) c.868-6452G>A (n.868-6452G>A) c.862-6452G>A (n.862-6452G>A) c.295G>A (p.Val99Ile) c.61-6452G>A (n.61-6452G>A) c.442-6452G>A (n.442-6452G>A) | |
| 2 | g.233760582G>C | CA351066358 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6452G>C (n.856-6452G>C) c.868-6452G>C (n.868-6452G>C) c.862-6452G>C (n.862-6452G>C) c.295G>C (p.Val99Leu) c.61-6452G>C (n.61-6452G>C) c.442-6452G>C (n.442-6452G>C) | |
| 2 | g.233760582G>T | CA351066359 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6452G>T (n.856-6452G>T) c.868-6452G>T (n.868-6452G>T) c.862-6452G>T (n.862-6452G>T) c.295G>T (p.Val99Phe) c.61-6452G>T (n.61-6452G>T) c.442-6452G>T (n.442-6452G>T) | |
| 2 | g.233760583T>A | CA351066360 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6451T>A (n.856-6451T>A) c.868-6451T>A (n.868-6451T>A) c.862-6451T>A (n.862-6451T>A) c.296T>A (p.Val99Asp) c.61-6451T>A (n.61-6451T>A) c.442-6451T>A (n.442-6451T>A) | |
| 2 | g.233760583T>C | CA351066361 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6451T>C (n.856-6451T>C) c.868-6451T>C (n.868-6451T>C) c.862-6451T>C (n.862-6451T>C) c.296T>C (p.Val99Ala) c.61-6451T>C (n.61-6451T>C) c.442-6451T>C (n.442-6451T>C) | |
| 2 | g.233760583T>G | CA351066362 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6451T>G (n.856-6451T>G) c.868-6451T>G (n.868-6451T>G) c.862-6451T>G (n.862-6451T>G) c.296T>G (p.Val99Gly) c.61-6451T>G (n.61-6451T>G) c.442-6451T>G (n.442-6451T>G) | |
| 2 | g.233760587del | CA431960276 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6447del (n.856-6447del) c.868-6447del (n.868-6447del) c.862-6447del (n.862-6447del) c.300del (p.Phe100LeufsTer10) c.61-6447del (n.61-6447del) c.442-6447del (n.442-6447del) | ClinVar gnomAD v4 |
| 2 | g.233760584T>A | CA431960281 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6450T>A (n.856-6450T>A) c.868-6450T>A (n.868-6450T>A) c.862-6450T>A (n.862-6450T>A) c.297T>A (p.Val99=) c.61-6450T>A (n.61-6450T>A) c.442-6450T>A (n.442-6450T>A) | |
| 2 | g.233760584T>C | CA431960280 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6450T>C (n.856-6450T>C) c.868-6450T>C (n.868-6450T>C) c.862-6450T>C (n.862-6450T>C) c.297T>C (p.Val99=) c.61-6450T>C (n.61-6450T>C) c.442-6450T>C (n.442-6450T>C) | |
| 2 | g.233760584T>G | CA431960282 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6450T>G (n.856-6450T>G) c.868-6450T>G (n.868-6450T>G) c.862-6450T>G (n.862-6450T>G) c.297T>G (p.Val99=) c.61-6450T>G (n.61-6450T>G) c.442-6450T>G (n.442-6450T>G) | |
| 2 | g.233760585T>A | CA351066365 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6449T>A (n.856-6449T>A) c.868-6449T>A (n.868-6449T>A) c.862-6449T>A (n.862-6449T>A) c.298T>A (p.Phe100Ile) c.61-6449T>A (n.61-6449T>A) c.442-6449T>A (n.442-6449T>A) | dbSNP gnomAD v4 |
| 2 | g.233760585T>C | CA351066364 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6449T>C (n.856-6449T>C) c.868-6449T>C (n.868-6449T>C) c.862-6449T>C (n.862-6449T>C) c.298T>C (p.Phe100Leu) c.61-6449T>C (n.61-6449T>C) c.442-6449T>C (n.442-6449T>C) | |
| 2 | g.233760585T>G | CA351066363 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6449T>G (n.856-6449T>G) c.868-6449T>G (n.868-6449T>G) c.862-6449T>G (n.862-6449T>G) c.298T>G (p.Phe100Val) c.61-6449T>G (n.61-6449T>G) c.442-6449T>G (n.442-6449T>G) | |
| 2 | g.233760586T>A | CA351066366 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6448T>A (n.856-6448T>A) c.868-6448T>A (n.868-6448T>A) c.862-6448T>A (n.862-6448T>A) c.299T>A (p.Phe100Tyr) c.61-6448T>A (n.61-6448T>A) c.442-6448T>A (n.442-6448T>A) | |
| 2 | g.233760586T>C | CA351066367 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6448T>C (n.856-6448T>C) c.868-6448T>C (n.868-6448T>C) c.862-6448T>C (n.862-6448T>C) c.299T>C (p.Phe100Ser) c.61-6448T>C (n.61-6448T>C) c.442-6448T>C (n.442-6448T>C) | |
| 2 | g.233760586T>G | CA351066368 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6448T>G (n.856-6448T>G) c.868-6448T>G (n.868-6448T>G) c.862-6448T>G (n.862-6448T>G) c.299T>G (p.Phe100Cys) c.61-6448T>G (n.61-6448T>G) c.442-6448T>G (n.442-6448T>G) | gnomAD v4 |