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.233760729A= | CA1335889373 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A= (n.856-6305A=) c.868-6305A= (n.868-6305A=) c.862-6305A= (n.862-6305A=) c.442A= (p.Met148=) c.61-6305A= (n.61-6305A=) c.442-6305A= (n.442-6305A=) | |
| 2 | g.233760729A>C | CA351066688 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>C (n.856-6305A>C) c.868-6305A>C (n.868-6305A>C) c.862-6305A>C (n.862-6305A>C) c.442A>C (p.Met148Leu) c.61-6305A>C (n.61-6305A>C) c.442-6305A>C (n.442-6305A>C) | |
| 2 | g.233760729A>G | CA351066689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>G (n.856-6305A>G) c.868-6305A>G (n.868-6305A>G) c.862-6305A>G (n.862-6305A>G) c.442A>G (p.Met148Val) c.61-6305A>G (n.61-6305A>G) c.442-6305A>G (n.442-6305A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233760729A>T | CA351066690 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>T (n.856-6305A>T) c.868-6305A>T (n.868-6305A>T) c.862-6305A>T (n.862-6305A>T) c.442A>T (p.Met148Leu) c.61-6305A>T (n.61-6305A>T) c.442-6305A>T (n.442-6305A>T) | |
| 2 | g.233760730T>A | CA351066691 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>A (n.856-6304T>A) c.868-6304T>A (n.868-6304T>A) c.862-6304T>A (n.862-6304T>A) c.443T>A (p.Met148Lys) c.61-6304T>A (n.61-6304T>A) c.442-6304T>A (n.442-6304T>A) | |
| 2 | g.233760730T>C | CA351066692 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>C (n.856-6304T>C) c.868-6304T>C (n.868-6304T>C) c.862-6304T>C (n.862-6304T>C) c.443T>C (p.Met148Thr) c.61-6304T>C (n.61-6304T>C) c.442-6304T>C (n.442-6304T>C) | |
| 2 | g.233760730T>G | CA351066693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>G (n.856-6304T>G) c.868-6304T>G (n.868-6304T>G) c.862-6304T>G (n.862-6304T>G) c.443T>G (p.Met148Arg) c.61-6304T>G (n.61-6304T>G) c.442-6304T>G (n.442-6304T>G) | |
| 2 | g.233760731G>A | CA351066694 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>A (n.856-6303G>A) c.868-6303G>A (n.868-6303G>A) c.862-6303G>A (n.862-6303G>A) c.444G>A (p.Met148Ile) c.61-6303G>A (n.61-6303G>A) c.442-6303G>A (n.442-6303G>A) | |
| 2 | g.233760731G>C | CA351066695 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>C (n.856-6303G>C) c.868-6303G>C (n.868-6303G>C) c.862-6303G>C (n.862-6303G>C) c.444G>C (p.Met148Ile) c.61-6303G>C (n.61-6303G>C) c.442-6303G>C (n.442-6303G>C) | |
| 2 | g.233760731G>T | CA351066696 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>T (n.856-6303G>T) c.868-6303G>T (n.868-6303G>T) c.862-6303G>T (n.862-6303G>T) c.444G>T (p.Met148Ile) c.61-6303G>T (n.61-6303G>T) c.442-6303G>T (n.442-6303G>T) | |
| 2 | g.233760732C>A | CA351066697 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>A (n.856-6302C>A) c.868-6302C>A (n.868-6302C>A) c.862-6302C>A (n.862-6302C>A) c.445C>A (p.Leu149Met) c.61-6302C>A (n.61-6302C>A) c.442-6302C>A (n.442-6302C>A) | |
| 2 | g.233760732C>G | CA351066698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>G (n.856-6302C>G) c.868-6302C>G (n.868-6302C>G) c.862-6302C>G (n.862-6302C>G) c.445C>G (p.Leu149Val) c.61-6302C>G (n.61-6302C>G) c.442-6302C>G (n.442-6302C>G) | |
| 2 | g.233760732C>T | CA431960431 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>T (n.856-6302C>T) c.868-6302C>T (n.868-6302C>T) c.862-6302C>T (n.862-6302C>T) c.445C>T (p.Leu149=) c.61-6302C>T (n.61-6302C>T) c.442-6302C>T (n.442-6302C>T) | |
| 2 | g.233760733T>A | CA351066700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>A (n.856-6301T>A) c.868-6301T>A (n.868-6301T>A) c.862-6301T>A (n.862-6301T>A) c.446T>A (p.Leu149Gln) c.61-6301T>A (n.61-6301T>A) c.442-6301T>A (n.442-6301T>A) | |
| 2 | g.233760733T>C | CA351066701 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>C (n.856-6301T>C) c.868-6301T>C (n.868-6301T>C) c.862-6301T>C (n.862-6301T>C) c.446T>C (p.Leu149Pro) c.61-6301T>C (n.61-6301T>C) c.442-6301T>C (n.442-6301T>C) | |
| 2 | g.233760733T>G | CA351066699 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>G (n.856-6301T>G) c.868-6301T>G (n.868-6301T>G) c.862-6301T>G (n.862-6301T>G) c.446T>G (p.Leu149Arg) c.61-6301T>G (n.61-6301T>G) c.442-6301T>G (n.442-6301T>G) | gnomAD v4 |
| 2 | g.233760733_233760741delinsTGACGGACC | CA1335889375 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301_856-6293delinsTGACGGACC (n.856-6301_856-6293delinsTGACGGACC) c.868-6301_868-6293delinsTGACGGACC (n.868-6301_868-6293delinsTGACGGACC) c.862-6301_862-6293delinsTGACGGACC (n.862-6301_862-6293delinsTGACGGACC) c.446_454delinsTGACGGACC (p.Leu149=) c.61-6301_61-6293delinsTGACGGACC (n.61-6301_61-6293delinsTGACGGACC) c.442-6301_442-6293delinsTGACGGACC (n.442-6301_442-6293delinsTGACGGACC) | |
| 2 | g.233760734G>A | CA431960432 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G>A (n.856-6300G>A) c.868-6300G>A (n.868-6300G>A) c.862-6300G>A (n.862-6300G>A) c.447G>A (p.Leu149=) c.61-6300G>A (n.61-6300G>A) c.442-6300G>A (n.442-6300G>A) | |
| 2 | g.233760734G>C | CA431960434 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G>C (n.856-6300G>C) c.868-6300G>C (n.868-6300G>C) c.862-6300G>C (n.862-6300G>C) c.447G>C (p.Leu149=) c.61-6300G>C (n.61-6300G>C) c.442-6300G>C (n.442-6300G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233760734G= | CA1335889376 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G= (n.856-6300G=) c.868-6300G= (n.868-6300G=) c.862-6300G= (n.862-6300G=) c.447G= (p.Leu149=) c.61-6300G= (n.61-6300G=) c.442-6300G= (n.442-6300G=) | |
| 2 | g.233760734G>T | CA431960433 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G>T (n.856-6300G>T) c.868-6300G>T (n.868-6300G>T) c.862-6300G>T (n.862-6300G>T) c.447G>T (p.Leu149=) c.61-6300G>T (n.61-6300G>T) c.442-6300G>T (n.442-6300G>T) | |
| 2 | g.233760734_233760741del | CA1335889377 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300_856-6293del (n.856-6300_856-6293del) c.868-6300_868-6293del (n.868-6300_868-6293del) c.862-6300_862-6293del (n.862-6300_862-6293del) c.447_454del (p.Thr150PhefsTer?) c.61-6300_61-6293del (n.61-6300_61-6293del) c.442-6300_442-6293del (n.442-6300_442-6293del) | dbSNP |
| 2 | g.233760735A>C | CA351066702 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6299A>C (n.856-6299A>C) c.868-6299A>C (n.868-6299A>C) c.862-6299A>C (n.862-6299A>C) c.448A>C (p.Thr150Pro) c.61-6299A>C (n.61-6299A>C) c.442-6299A>C (n.442-6299A>C) | |
| 2 | g.233760735A>G | CA351066703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6299A>G (n.856-6299A>G) c.868-6299A>G (n.868-6299A>G) c.862-6299A>G (n.862-6299A>G) c.448A>G (p.Thr150Ala) c.61-6299A>G (n.61-6299A>G) c.442-6299A>G (n.442-6299A>G) | |
| 2 | g.233760735A>T | CA351066704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6299A>T (n.856-6299A>T) c.868-6299A>T (n.868-6299A>T) c.862-6299A>T (n.862-6299A>T) c.448A>T (p.Thr150Ser) c.61-6299A>T (n.61-6299A>T) c.442-6299A>T (n.442-6299A>T) | |
| 2 | g.233760736C>A | CA351066705 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C>A (n.856-6298C>A) c.868-6298C>A (n.868-6298C>A) c.862-6298C>A (n.862-6298C>A) c.449C>A (p.Thr150Lys) c.61-6298C>A (n.61-6298C>A) c.442-6298C>A (n.442-6298C>A) | |
| 2 | g.233760736C= | CA1335889380 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C= (n.856-6298C=) c.868-6298C= (n.868-6298C=) c.862-6298C= (n.862-6298C=) c.449C= (p.Thr150=) c.61-6298C= (n.61-6298C=) c.442-6298C= (n.442-6298C=) | |
| 2 | g.233760736C>G | CA2179824 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C>G (n.856-6298C>G) c.868-6298C>G (n.868-6298C>G) c.862-6298C>G (n.862-6298C>G) c.449C>G (p.Thr150Arg) c.61-6298C>G (n.61-6298C>G) c.442-6298C>G (n.442-6298C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233760736C>T | CA2179825 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C>T (n.856-6298C>T) c.868-6298C>T (n.868-6298C>T) c.862-6298C>T (n.862-6298C>T) c.449C>T (p.Thr150Met) c.61-6298C>T (n.61-6298C>T) c.442-6298C>T (n.442-6298C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.233760737G>A | CA2179826 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G>A (n.856-6297G>A) c.868-6297G>A (n.868-6297G>A) c.862-6297G>A (n.862-6297G>A) c.450G>A (p.Thr150=) c.61-6297G>A (n.61-6297G>A) c.442-6297G>A (n.442-6297G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233760737G>C | CA431960436 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G>C (n.856-6297G>C) c.868-6297G>C (n.868-6297G>C) c.862-6297G>C (n.862-6297G>C) c.450G>C (p.Thr150=) c.61-6297G>C (n.61-6297G>C) c.442-6297G>C (n.442-6297G>C) | |
| 2 | g.233760737G= | CA1335889383 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G= (n.856-6297G=) c.868-6297G= (n.868-6297G=) c.862-6297G= (n.862-6297G=) c.450G= (p.Thr150=) c.61-6297G= (n.61-6297G=) c.442-6297G= (n.442-6297G=) | |
| 2 | g.233760737G>T | CA431960435 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G>T (n.856-6297G>T) c.868-6297G>T (n.868-6297G>T) c.862-6297G>T (n.862-6297G>T) c.450G>T (p.Thr150=) c.61-6297G>T (n.61-6297G>T) c.442-6297G>T (n.442-6297G>T) | |
| 2 | g.233760738G>A | CA351066706 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6296G>A (n.856-6296G>A) c.868-6296G>A (n.868-6296G>A) c.862-6296G>A (n.862-6296G>A) c.451G>A (p.Asp151Asn) c.61-6296G>A (n.61-6296G>A) c.442-6296G>A (n.442-6296G>A) | COSMIC |
| 2 | g.233760738G>C | CA351066707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6296G>C (n.856-6296G>C) c.868-6296G>C (n.868-6296G>C) c.862-6296G>C (n.862-6296G>C) c.451G>C (p.Asp151His) c.61-6296G>C (n.61-6296G>C) c.442-6296G>C (n.442-6296G>C) | |
| 2 | g.233760738G>T | CA351066708 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6296G>T (n.856-6296G>T) c.868-6296G>T (n.868-6296G>T) c.862-6296G>T (n.862-6296G>T) c.451G>T (p.Asp151Tyr) c.61-6296G>T (n.61-6296G>T) c.442-6296G>T (n.442-6296G>T) | |
| 2 | g.233760739A= | CA1335889385 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A= (n.856-6295A=) c.868-6295A= (n.868-6295A=) c.862-6295A= (n.862-6295A=) c.452A= (p.Asp151=) c.61-6295A= (n.61-6295A=) c.442-6295A= (n.442-6295A=) | |
| 2 | g.233760739A>C | CA351066709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A>C (n.856-6295A>C) c.868-6295A>C (n.868-6295A>C) c.862-6295A>C (n.862-6295A>C) c.452A>C (p.Asp151Ala) c.61-6295A>C (n.61-6295A>C) c.442-6295A>C (n.442-6295A>C) | gnomAD v4 |
| 2 | g.233760739A>G | CA351066710 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A>G (n.856-6295A>G) c.868-6295A>G (n.868-6295A>G) c.862-6295A>G (n.862-6295A>G) c.452A>G (p.Asp151Gly) c.61-6295A>G (n.61-6295A>G) c.442-6295A>G (n.442-6295A>G) | dbSNP |
| 2 | g.233760739A>T | CA351066711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A>T (n.856-6295A>T) c.868-6295A>T (n.868-6295A>T) c.862-6295A>T (n.862-6295A>T) c.452A>T (p.Asp151Val) c.61-6295A>T (n.61-6295A>T) c.442-6295A>T (n.442-6295A>T) | |
| 2 | g.233760740C>A | CA351066712 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6294C>A (n.856-6294C>A) c.868-6294C>A (n.868-6294C>A) c.862-6294C>A (n.862-6294C>A) c.453C>A (p.Asp151Glu) c.61-6294C>A (n.61-6294C>A) c.442-6294C>A (n.442-6294C>A) | |
| 2 | g.233760740C>G | CA351066713 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6294C>G (n.856-6294C>G) c.868-6294C>G (n.868-6294C>G) c.862-6294C>G (n.862-6294C>G) c.453C>G (p.Asp151Glu) c.61-6294C>G (n.61-6294C>G) c.442-6294C>G (n.442-6294C>G) | |
| 2 | g.233760740C>T | CA431960437 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6294C>T (n.856-6294C>T) c.868-6294C>T (n.868-6294C>T) c.862-6294C>T (n.862-6294C>T) c.453C>T (p.Asp151=) c.61-6294C>T (n.61-6294C>T) c.442-6294C>T (n.442-6294C>T) | dbSNP gnomAD v4 |
| 2 | g.233760741C>A | CA351066714 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6293C>A (n.856-6293C>A) c.868-6293C>A (n.868-6293C>A) c.862-6293C>A (n.862-6293C>A) c.454C>A (p.Pro152Thr) c.61-6293C>A (n.61-6293C>A) c.442-6293C>A (n.442-6293C>A) | |
| 2 | g.233760741C>G | CA351066715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6293C>G (n.856-6293C>G) c.868-6293C>G (n.868-6293C>G) c.862-6293C>G (n.862-6293C>G) c.454C>G (p.Pro152Ala) c.61-6293C>G (n.61-6293C>G) c.442-6293C>G (n.442-6293C>G) | gnomAD v4 |
| 2 | g.233760741C>T | CA351066716 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6293C>T (n.856-6293C>T) c.868-6293C>T (n.868-6293C>T) c.862-6293C>T (n.862-6293C>T) c.454C>T (p.Pro152Ser) c.61-6293C>T (n.61-6293C>T) c.442-6293C>T (n.442-6293C>T) | |
| 2 | g.233760742C>A | CA2179827 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C>A (n.856-6292C>A) c.868-6292C>A (n.868-6292C>A) c.862-6292C>A (n.862-6292C>A) c.455C>A (p.Pro152His) c.61-6292C>A (n.61-6292C>A) c.442-6292C>A (n.442-6292C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233760742C= | CA1335889387 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C= (n.856-6292C=) c.868-6292C= (n.868-6292C=) c.862-6292C= (n.862-6292C=) c.455C= (p.Pro152=) c.61-6292C= (n.61-6292C=) c.442-6292C= (n.442-6292C=) | |
| 2 | g.233760742C>G | CA67589971 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C>G (n.856-6292C>G) c.868-6292C>G (n.868-6292C>G) c.862-6292C>G (n.862-6292C>G) c.455C>G (p.Pro152Arg) c.61-6292C>G (n.61-6292C>G) c.442-6292C>G (n.442-6292C>G) | dbSNP |
| 2 | g.233760742C>T | CA351066717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C>T (n.856-6292C>T) c.868-6292C>T (n.868-6292C>T) c.862-6292C>T (n.862-6292C>T) c.455C>T (p.Pro152Leu) c.61-6292C>T (n.61-6292C>T) c.442-6292C>T (n.442-6292C>T) | gnomAD v4 |