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 |
|---|---|---|---|---|---|
| 4 | g.69098564C>A | CA357096696 | UGT2B11,UGT2B7 | c.746C>A (p.Thr249Lys) c.-2C>A (n.-2C>A) n.284C>A c.*106-93811G>T (n.*106-93811G>T) c.*380-93811G>T (n.*380-93811G>T) | |
| 4 | g.69098564C>G | CA357096698 | UGT2B11,UGT2B7 | c.746C>G (p.Thr249Arg) c.-2C>G (n.-2C>G) n.284C>G c.*106-93811G>C (n.*106-93811G>C) c.*380-93811G>C (n.*380-93811G>C) | |
| 4 | g.69098564C>T | CA357096697 | UGT2B11,UGT2B7 | c.746C>T (p.Thr249Ile) c.-2C>T (n.-2C>T) n.284C>T c.*106-93811G>A (n.*106-93811G>A) c.*380-93811G>A (n.*380-93811G>A) | |
| 4 | g.69098565A>C | CA439737109 | UGT2B11,UGT2B7 | c.747A>C (p.Thr249=) c.-1A>C (n.-1A>C) n.285A>C c.*106-93812T>G (n.*106-93812T>G) c.*380-93812T>G (n.*380-93812T>G) | |
| 4 | g.69098565A>G | CA439737110 | UGT2B11,UGT2B7 | c.747A>G (p.Thr249=) c.-1A>G (n.-1A>G) n.285A>G c.*106-93812T>C (n.*106-93812T>C) c.*380-93812T>C (n.*380-93812T>C) | |
| 4 | g.69098565A>T | CA439737111 | UGT2B11,UGT2B7 | c.747A>T (p.Thr249=) c.-1A>T (n.-1A>T) n.285A>T c.*106-93812T>A (n.*106-93812T>A) c.*380-93812T>A (n.*380-93812T>A) | |
| 4 | g.69098566A>C | CA357096699 | UGT2B11,UGT2B7 | c.748A>C (p.Met250Leu) c.1A>C (p.Met1Leu) n.286A>C c.*106-93813T>G (n.*106-93813T>G) c.*380-93813T>G (n.*380-93813T>G) | |
| 4 | g.69098566A>G | CA357096700 | UGT2B11,UGT2B7 | c.748A>G (p.Met250Val) c.1A>G (p.Met1Val) n.286A>G c.*106-93813T>C (n.*106-93813T>C) c.*380-93813T>C (n.*380-93813T>C) | gnomAD v4 |
| 4 | g.69098566A>T | CA357096701 | UGT2B11,UGT2B7 | c.748A>T (p.Met250Leu) c.1A>T (p.Met1Leu) n.286A>T c.*106-93813T>A (n.*106-93813T>A) c.*380-93813T>A (n.*380-93813T>A) | |
| 4 | g.69098567T>A | CA357096702 | UGT2B11,UGT2B7 | c.749T>A (p.Met250Lys) c.2T>A (p.Met1Lys) n.287T>A c.*106-93814A>T (n.*106-93814A>T) c.*380-93814A>T (n.*380-93814A>T) | |
| 4 | g.69098567T>C | CA357096703 | UGT2B11,UGT2B7 | c.749T>C (p.Met250Thr) c.2T>C (p.Met1Thr) n.287T>C c.*106-93814A>G (n.*106-93814A>G) c.*380-93814A>G (n.*380-93814A>G) | |
| 4 | g.69098567T>G | CA357096704 | UGT2B11,UGT2B7 | c.749T>G (p.Met250Arg) c.2T>G (p.Met1Arg) n.287T>G c.*106-93814A>C (n.*106-93814A>C) c.*380-93814A>C (n.*380-93814A>C) | |
| 4 | g.69098568G>A | CA357096705 | UGT2B11,UGT2B7 | c.750G>A (p.Met250Ile) c.3G>A (p.Met1Ile) n.288G>A c.*106-93815C>T (n.*106-93815C>T) c.*380-93815C>T (n.*380-93815C>T) | |
| 4 | g.69098568G>C | CA357096706 | UGT2B11,UGT2B7 | c.750G>C (p.Met250Ile) c.3G>C (p.Met1Ile) n.288G>C c.*106-93815C>G (n.*106-93815C>G) c.*380-93815C>G (n.*380-93815C>G) | gnomAD v4 |
| 4 | g.69098568G>T | CA357096707 | UGT2B11,UGT2B7 | c.750G>T (p.Met250Ile) c.3G>T (p.Met1Ile) n.288G>T c.*106-93815C>A (n.*106-93815C>A) c.*380-93815C>A (n.*380-93815C>A) | |
| 4 | g.69098571dup | CA2533071575 | UGT2B11,UGT2B7 | c.753dup (p.Lys252GlufsTer3) c.6dup (p.Lys3GlufsTer3) n.291dup c.*106-93815dup (n.*106-93815dup) c.*380-93815dup (n.*380-93815dup) | |
| 4 | g.69098569G>A | CA357096708 | UGT2B11,UGT2B7 | c.751G>A (p.Gly251Arg) c.4G>A (p.Gly2Arg) n.289G>A c.*106-93816C>T (n.*106-93816C>T) c.*380-93816C>T (n.*380-93816C>T) | COSMIC |
| 4 | g.69098569G>C | CA2944684 | UGT2B11,UGT2B7 | c.751G>C (p.Gly251Arg) c.4G>C (p.Gly2Arg) n.289G>C c.*106-93816C>G (n.*106-93816C>G) c.*380-93816C>G (n.*380-93816C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098569G= | CA1466050284 | UGT2B11,UGT2B7 | c.751G= (p.Gly251=) c.4G= (p.Gly2=) n.289G= c.*106-93816C= (n.*106-93816C=) c.*380-93816C= (n.*380-93816C=) | |
| 4 | g.69098569G>T | CA357096709 | UGT2B11,UGT2B7 | c.751G>T (p.Gly251Trp) c.4G>T (p.Gly2Trp) n.289G>T c.*106-93816C>A (n.*106-93816C>A) c.*380-93816C>A (n.*380-93816C>A) | |
| 4 | g.69098570G>A | CA2944685 | UGT2B11,UGT2B7 | c.752G>A (p.Gly251Glu) c.5G>A (p.Gly2Glu) n.290G>A c.*106-93817C>T (n.*106-93817C>T) c.*380-93817C>T (n.*380-93817C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.69098570G>C | CA357096710 | UGT2B11,UGT2B7 | c.752G>C (p.Gly251Ala) c.5G>C (p.Gly2Ala) n.290G>C c.*106-93817C>G (n.*106-93817C>G) c.*380-93817C>G (n.*380-93817C>G) | |
| 4 | g.69098570G= | CA1466050285 | UGT2B11,UGT2B7 | c.752G= (p.Gly251=) c.5G= (p.Gly2=) n.290G= c.*106-93817C= (n.*106-93817C=) c.*380-93817C= (n.*380-93817C=) | |
| 4 | g.69098570G>T | CA357096711 | UGT2B11,UGT2B7 | c.752G>T (p.Gly251Val) c.5G>T (p.Gly2Val) n.290G>T c.*106-93817C>A (n.*106-93817C>A) c.*380-93817C>A (n.*380-93817C>A) | |
| 4 | g.69098571G>A | CA439737126 | UGT2B11,UGT2B7 | c.753G>A (p.Gly251=) c.6G>A (p.Gly2=) n.291G>A c.*106-93818C>T (n.*106-93818C>T) c.*380-93818C>T (n.*380-93818C>T) | |
| 4 | g.69098571G>C | CA439737127 | UGT2B11,UGT2B7 | c.753G>C (p.Gly251=) c.6G>C (p.Gly2=) n.291G>C c.*106-93818C>G (n.*106-93818C>G) c.*380-93818C>G (n.*380-93818C>G) | |
| 4 | g.69098571G>T | CA439737129 | UGT2B11,UGT2B7 | c.753G>T (p.Gly251=) c.6G>T (p.Gly2=) n.291G>T c.*106-93818C>A (n.*106-93818C>A) c.*380-93818C>A (n.*380-93818C>A) | |
| 4 | g.69098572A>C | CA357096712 | UGT2B11,UGT2B7 | c.754A>C (p.Lys252Gln) c.7A>C (p.Lys3Gln) n.292A>C c.*106-93819T>G (n.*106-93819T>G) c.*380-93819T>G (n.*380-93819T>G) | |
| 4 | g.69098572A>G | CA357096713 | UGT2B11,UGT2B7 | c.754A>G (p.Lys252Glu) c.7A>G (p.Lys3Glu) n.292A>G c.*106-93819T>C (n.*106-93819T>C) c.*380-93819T>C (n.*380-93819T>C) | |
| 4 | g.69098572A>T | CA357096714 | UGT2B11,UGT2B7 | c.754A>T (p.Lys252Ter) c.7A>T (p.Lys3Ter) n.292A>T c.*106-93819T>A (n.*106-93819T>A) c.*380-93819T>A (n.*380-93819T>A) | |
| 4 | g.69098573A>C | CA357096715 | UGT2B11,UGT2B7 | c.755A>C (p.Lys252Thr) c.8A>C (p.Lys3Thr) n.293A>C c.*106-93820T>G (n.*106-93820T>G) c.*380-93820T>G (n.*380-93820T>G) | COSMIC |
| 4 | g.69098573A>G | CA357096716 | UGT2B11,UGT2B7 | c.755A>G (p.Lys252Arg) c.8A>G (p.Lys3Arg) n.293A>G c.*106-93820T>C (n.*106-93820T>C) c.*380-93820T>C (n.*380-93820T>C) | |
| 4 | g.69098573A>T | CA357096717 | UGT2B11,UGT2B7 | c.755A>T (p.Lys252Ile) c.8A>T (p.Lys3Ile) n.293A>T c.*106-93820T>A (n.*106-93820T>A) c.*380-93820T>A (n.*380-93820T>A) | |
| 4 | g.69098574A>C | CA357096719 | UGT2B11,UGT2B7 | c.756A>C (p.Lys252Asn) c.9A>C (p.Lys3Asn) n.294A>C c.*106-93821T>G (n.*106-93821T>G) c.*380-93821T>G (n.*380-93821T>G) | gnomAD v4 |
| 4 | g.69098574A>G | CA439737143 | UGT2B11,UGT2B7 | c.756A>G (p.Lys252=) c.9A>G (p.Lys3=) n.294A>G c.*106-93821T>C (n.*106-93821T>C) c.*380-93821T>C (n.*380-93821T>C) | |
| 4 | g.69098574A>T | CA357096718 | UGT2B11,UGT2B7 | c.756A>T (p.Lys252Asn) c.9A>T (p.Lys3Asn) n.294A>T c.*106-93821T>A (n.*106-93821T>A) c.*380-93821T>A (n.*380-93821T>A) | |
| 4 | g.69098575G>A | CA357096720 | UGT2B11,UGT2B7 | c.757G>A (p.Ala253Thr) c.10G>A (p.Ala4Thr) n.295G>A c.*106-93822C>T (n.*106-93822C>T) c.*380-93822C>T (n.*380-93822C>T) | dbSNP gnomAD v4 |
| 4 | g.69098575G>C | CA357096721 | UGT2B11,UGT2B7 | c.757G>C (p.Ala253Pro) c.10G>C (p.Ala4Pro) n.295G>C c.*106-93822C>G (n.*106-93822C>G) c.*380-93822C>G (n.*380-93822C>G) | |
| 4 | g.69098575G= | CA1466050286 | UGT2B11,UGT2B7 | c.757G= (p.Ala253=) c.10G= (p.Ala4=) n.295G= c.*106-93822C= (n.*106-93822C=) c.*380-93822C= (n.*380-93822C=) | |
| 4 | g.69098575G>T | CA357096722 | UGT2B11,UGT2B7 | c.757G>T (p.Ala253Ser) c.10G>T (p.Ala4Ser) n.295G>T c.*106-93822C>A (n.*106-93822C>A) c.*380-93822C>A (n.*380-93822C>A) | dbSNP |
| 4 | g.69098576C>A | CA357096723 | UGT2B11,UGT2B7 | c.758C>A (p.Ala253Asp) c.11C>A (p.Ala4Asp) n.296C>A c.*106-93823G>T (n.*106-93823G>T) c.*380-93823G>T (n.*380-93823G>T) | dbSNP |
| 4 | g.69098576C= | CA1466050287 | UGT2B11,UGT2B7 | c.758C= (p.Ala253=) c.11C= (p.Ala4=) n.296C= c.*106-93823G= (n.*106-93823G=) c.*380-93823G= (n.*380-93823G=) | |
| 4 | g.69098576C>G | CA357096724 | UGT2B11,UGT2B7 | c.758C>G (p.Ala253Gly) c.11C>G (p.Ala4Gly) n.296C>G c.*106-93823G>C (n.*106-93823G>C) c.*380-93823G>C (n.*380-93823G>C) | |
| 4 | g.69098576C>T | CA2944686 | UGT2B11,UGT2B7 | c.758C>T (p.Ala253Val) c.11C>T (p.Ala4Val) n.296C>T c.*106-93823G>A (n.*106-93823G>A) c.*380-93823G>A (n.*380-93823G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098577T>A | CA439737155 | UGT2B11,UGT2B7 | c.759T>A (p.Ala253=) c.12T>A (p.Ala4=) n.297T>A c.*106-93824A>T (n.*106-93824A>T) c.*380-93824A>T (n.*380-93824A>T) | |
| 4 | g.69098577T>C | CA439737156 | UGT2B11,UGT2B7 | c.759T>C (p.Ala253=) c.12T>C (p.Ala4=) n.297T>C c.*106-93824A>G (n.*106-93824A>G) c.*380-93824A>G (n.*380-93824A>G) | |
| 4 | g.69098577T>G | CA439737157 | UGT2B11,UGT2B7 | c.759T>G (p.Ala253=) c.12T>G (p.Ala4=) n.297T>G c.*106-93824A>C (n.*106-93824A>C) c.*380-93824A>C (n.*380-93824A>C) | |
| 4 | g.69098578G>A | CA2944687 | UGT2B11,UGT2B7 | c.760G>A (p.Asp254Asn) c.13G>A (p.Asp5Asn) n.298G>A c.*106-93825C>T (n.*106-93825C>T) c.*380-93825C>T (n.*380-93825C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.69098578G>C | CA357096725 | UGT2B11,UGT2B7 | c.760G>C (p.Asp254His) c.13G>C (p.Asp5His) n.298G>C c.*106-93825C>G (n.*106-93825C>G) c.*380-93825C>G (n.*380-93825C>G) | |
| 4 | g.69098578G= | CA1466050288 | UGT2B11,UGT2B7 | c.760G= (p.Asp254=) c.13G= (p.Asp5=) n.298G= c.*106-93825C= (n.*106-93825C=) c.*380-93825C= (n.*380-93825C=) |