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 |
|---|---|---|---|---|---|
| 19 | g.41419282C>A | CA406011166 | BCKDHA | c.632C>A (p.Thr211Lys) c.566C>A (p.Thr189Lys) n.261C>A n.758C>A c.734C>A (p.Thr245Lys) c.532C>A c.545C>A (p.Thr182Lys) n.260C>A | |
| 19 | g.41419282C= | CA2336457611 | BCKDHA | c.632C= (p.Thr211=) c.566C= (p.Thr189=) n.261C= n.758C= c.734C= (p.Thr245=) c.532C= c.545C= (p.Thr182=) n.260C= | |
| 19 | g.41419282C>G | CA406011168 | BCKDHA | c.632C>G (p.Thr211Arg) c.566C>G (p.Thr189Arg) n.261C>G n.758C>G c.734C>G (p.Thr245Arg) c.532C>G c.545C>G (p.Thr182Arg) n.260C>G | |
| 19 | g.41419282C>T | CA221206 | BCKDHA | c.632C>T (p.Thr211Met) c.566C>T (p.Thr189Met) n.261C>T n.758C>T c.734C>T (p.Thr245Met) c.532C>T c.545C>T (p.Thr182Met) n.260C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.41419283G>A | CA9461205 | BCKDHA | c.633G>A (p.Thr211=) c.567G>A (p.Thr189=) n.262G>A n.759G>A c.735G>A (p.Thr245=) c.533G>A c.546G>A (p.Thr182=) n.261G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41419283G>C | CA507560116 | BCKDHA | c.633G>C (p.Thr211=) c.567G>C (p.Thr189=) n.262G>C n.759G>C c.735G>C (p.Thr245=) c.533G>C c.546G>C (p.Thr182=) n.261G>C | |
| 19 | g.41419283G= | CA2336457612 | BCKDHA | c.633G= (p.Thr211=) c.567G= (p.Thr189=) n.262G= n.759G= c.735G= (p.Thr245=) c.533G= c.546G= (p.Thr182=) n.261G= | |
| 19 | g.41419283G>T | CA507560118 | BCKDHA | c.633G>T (p.Thr211=) c.567G>T (p.Thr189=) n.262G>T n.759G>T c.735G>T (p.Thr245=) c.533G>T c.546G>T (p.Thr182=) n.261G>T | ClinVar dbSNP |
| 19 | g.41419284C>A | CA406011172 | BCKDHA | c.634C>A (p.Gln212Lys) c.568C>A (p.Gln190Lys) n.263C>A n.760C>A c.736C>A (p.Gln246Lys) c.534C>A c.547C>A (p.Gln183Lys) n.262C>A | |
| 19 | g.41419284C>G | CA406011174 | BCKDHA | c.634C>G (p.Gln212Glu) c.568C>G (p.Gln190Glu) n.263C>G n.760C>G c.736C>G (p.Gln246Glu) c.534C>G c.547C>G (p.Gln183Glu) n.262C>G | |
| 19 | g.41419284C>T | CA406011176 | BCKDHA | c.634C>T (p.Gln212Ter) c.568C>T (p.Gln190Ter) n.263C>T n.760C>T c.736C>T (p.Gln246Ter) c.534C>T c.547C>T (p.Gln183Ter) n.262C>T | |
| 19 | g.41419285A>C | CA406011178 | BCKDHA | c.635A>C (p.Gln212Pro) c.569A>C (p.Gln190Pro) n.264A>C n.761A>C c.737A>C (p.Gln246Pro) c.535A>C c.548A>C (p.Gln183Pro) n.263A>C | |
| 19 | g.41419285A>G | CA406011179 | BCKDHA | c.635A>G (p.Gln212Arg) c.569A>G (p.Gln190Arg) n.264A>G n.761A>G c.737A>G (p.Gln246Arg) c.535A>G c.548A>G (p.Gln183Arg) n.263A>G | |
| 19 | g.41419285A>T | CA406011182 | BCKDHA | c.635A>T (p.Gln212Leu) c.569A>T (p.Gln190Leu) n.264A>T n.761A>T c.737A>T (p.Gln246Leu) c.535A>T c.548A>T (p.Gln183Leu) n.263A>T | |
| 19 | g.41419286G>A | CA507560126 | BCKDHA | c.636G>A (p.Gln212=) c.570G>A (p.Gln190=) n.265G>A n.762G>A c.738G>A (p.Gln246=) c.536G>A c.549G>A (p.Gln183=) n.264G>A | COSMIC |
| 19 | g.41419286G>C | CA406011184 | BCKDHA | c.636G>C (p.Gln212His) c.570G>C (p.Gln190His) n.265G>C n.762G>C c.738G>C (p.Gln246His) c.536G>C c.549G>C (p.Gln183His) n.264G>C | gnomAD v4 |
| 19 | g.41419286G>T | CA406011187 | BCKDHA | c.636G>T (p.Gln212His) c.570G>T (p.Gln190His) n.265G>T n.762G>T c.738G>T (p.Gln246His) c.536G>T c.549G>T (p.Gln183His) n.264G>T | |
| 19 | g.41419287A>C | CA406011191 | BCKDHA | c.637A>C (p.Ile213Leu) c.571A>C (p.Ile191Leu) n.266A>C n.763A>C c.739A>C (p.Ile247Leu) c.537A>C c.550A>C (p.Ile184Leu) n.265A>C | |
| 19 | g.41419287A>G | CA406011194 | BCKDHA | c.637A>G (p.Ile213Val) c.571A>G (p.Ile191Val) n.266A>G n.763A>G c.739A>G (p.Ile247Val) c.537A>G c.550A>G (p.Ile184Val) n.265A>G | |
| 19 | g.41419287A>T | CA406011192 | BCKDHA | c.637A>T (p.Ile213Phe) c.571A>T (p.Ile191Phe) n.266A>T n.763A>T c.739A>T (p.Ile247Phe) c.537A>T c.550A>T (p.Ile184Phe) n.265A>T | |
| 19 | g.41419288T>A | CA406011197 | BCKDHA | c.638T>A (p.Ile213Asn) c.572T>A (p.Ile191Asn) n.267T>A n.764T>A c.740T>A (p.Ile247Asn) c.538T>A c.551T>A (p.Ile184Asn) n.266T>A | |
| 19 | g.41419288T>C | CA406011198 | BCKDHA | c.638T>C (p.Ile213Thr) c.572T>C (p.Ile191Thr) n.267T>C n.764T>C c.740T>C (p.Ile247Thr) c.538T>C c.551T>C (p.Ile184Thr) n.266T>C | |
| 19 | g.41419288T>G | CA406011200 | BCKDHA | c.638T>G (p.Ile213Ser) c.572T>G (p.Ile191Ser) n.267T>G n.764T>G c.740T>G (p.Ile247Ser) c.538T>G c.551T>G (p.Ile184Ser) n.266T>G | |
| 19 | g.41419288_41419289delinsTC | CA2336457613 | BCKDHA | c.638_639delinsTC (p.Ile213=) c.572_573delinsTC (p.Ile191=) n.267_268delinsTC n.764_765delinsTC c.740_741delinsTC (p.Ile247=) c.538_539delinsTC c.551_552delinsTC (p.Ile184=) n.266_267delinsTC | |
| 19 | g.41419289C>A | CA507560135 | BCKDHA | c.639C>A (p.Ile213=) c.573C>A (p.Ile191=) n.268C>A n.765C>A c.741C>A (p.Ile247=) c.539C>A c.552C>A (p.Ile184=) n.267C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.41419289C= | CA2336457614 | BCKDHA | c.639C= (p.Ile213=) c.573C= (p.Ile191=) n.268C= n.765C= c.741C= (p.Ile247=) c.539C= c.552C= (p.Ile184=) n.267C= | |
| 19 | g.41419289C>G | CA406011203 | BCKDHA | c.639C>G (p.Ile213Met) c.573C>G (p.Ile191Met) n.268C>G n.765C>G c.741C>G (p.Ile247Met) c.539C>G c.552C>G (p.Ile184Met) n.267C>G | |
| 19 | g.41419289C>T | CA285350 | BCKDHA | c.639C>T (p.Ile213=) c.573C>T (p.Ile191=) n.268C>T n.765C>T c.741C>T (p.Ile247=) c.539C>T c.552C>T (p.Ile184=) n.267C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41419291del | CA633470464 | BCKDHA | c.641del (p.Pro214LeufsTer?) c.575del (p.Pro192LeufsTer?) n.270del n.767del c.743del (p.Pro248LeufsTer?) c.541del c.554del (p.Pro185LeufsTer?) n.269del | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41419290C>A | CA406011206 | BCKDHA | c.640C>A (p.Pro214Thr) c.574C>A (p.Pro192Thr) n.269C>A n.766C>A c.742C>A (p.Pro248Thr) c.540C>A c.553C>A (p.Pro185Thr) n.268C>A | |
| 19 | g.41419290C>G | CA406011207 | BCKDHA | c.640C>G (p.Pro214Ala) c.574C>G (p.Pro192Ala) n.269C>G n.766C>G c.742C>G (p.Pro248Ala) c.540C>G c.553C>G (p.Pro185Ala) n.268C>G | |
| 19 | g.41419290C>T | CA406011209 | BCKDHA | c.640C>T (p.Pro214Ser) c.574C>T (p.Pro192Ser) n.269C>T n.766C>T c.742C>T (p.Pro248Ser) c.540C>T c.553C>T (p.Pro185Ser) n.268C>T | COSMIC |
| 19 | g.41419291C>A | CA406011212 | BCKDHA | c.641C>A (p.Pro214His) c.575C>A (p.Pro192His) n.270C>A n.767C>A c.743C>A (p.Pro248His) c.541C>A c.554C>A (p.Pro185His) n.269C>A | gnomAD v4 |
| 19 | g.41419291C= | CA2336457615 | BCKDHA | c.641C= (p.Pro214=) c.575C= (p.Pro192=) n.270C= n.767C= c.743C= (p.Pro248=) c.541C= c.554C= (p.Pro185=) n.269C= | |
| 19 | g.41419291C>G | CA9461206 | BCKDHA | c.641C>G (p.Pro214Arg) c.575C>G (p.Pro192Arg) n.270C>G n.767C>G c.743C>G (p.Pro248Arg) c.541C>G c.554C>G (p.Pro185Arg) n.269C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41419291C>T | CA406011214 | BCKDHA | c.641C>T (p.Pro214Leu) c.575C>T (p.Pro192Leu) n.270C>T n.767C>T c.743C>T (p.Pro248Leu) c.541C>T c.554C>T (p.Pro185Leu) n.269C>T | gnomAD v4 |
| 19 | g.41419292T>A | CA507560146 | BCKDHA | c.642T>A (p.Pro214=) c.576T>A (p.Pro192=) n.271T>A n.768T>A c.744T>A (p.Pro248=) c.542T>A c.555T>A (p.Pro185=) n.270T>A | |
| 19 | g.41419292T>C | CA507560148 | BCKDHA | c.642T>C (p.Pro214=) c.576T>C (p.Pro192=) n.271T>C n.768T>C c.744T>C (p.Pro248=) c.542T>C c.555T>C (p.Pro185=) n.270T>C | |
| 19 | g.41419292T>G | CA507560150 | BCKDHA | c.642T>G (p.Pro214=) c.576T>G (p.Pro192=) n.271T>G n.768T>G c.744T>G (p.Pro248=) c.542T>G c.555T>G (p.Pro185=) n.270T>G | |
| 19 | g.41419293C>A | CA406011221 | BCKDHA | c.643C>A (p.Gln215Lys) c.577C>A (p.Gln193Lys) n.272C>A n.769C>A c.745C>A (p.Gln249Lys) c.543C>A c.556C>A (p.Gln186Lys) n.271C>A | gnomAD v4 |
| 19 | g.41419293C= | CA2336457617 | BCKDHA | c.643C= (p.Gln215=) c.577C= (p.Gln193=) n.272C= n.769C= c.745C= (p.Gln249=) c.543C= c.556C= (p.Gln186=) n.271C= | |
| 19 | g.41419293C>G | CA406011217 | BCKDHA | c.643C>G (p.Gln215Glu) c.577C>G (p.Gln193Glu) n.272C>G n.769C>G c.745C>G (p.Gln249Glu) c.543C>G c.556C>G (p.Gln186Glu) n.271C>G | dbSNP |
| 19 | g.41419293C>T | CA406011219 | BCKDHA | c.643C>T (p.Gln215Ter) c.577C>T (p.Gln193Ter) n.272C>T n.769C>T c.745C>T (p.Gln249Ter) c.543C>T c.556C>T (p.Gln186Ter) n.271C>T | |
| 19 | g.41419293_41419295delinsCAG | CA2336457616 | BCKDHA | c.643_645delinsCAG (p.Gln215=) c.577_579delinsCAG (p.Gln193=) n.272_274delinsCAG n.769_771delinsCAG c.745_747delinsCAG (p.Gln249=) c.543_545delinsCAG c.556_558delinsCAG (p.Gln186=) n.271_273delinsCAG | |
| 19 | g.41419294A= | CA2336457618 | BCKDHA | c.644A= (p.Gln215=) c.578A= (p.Gln193=) n.273A= n.770A= c.746A= (p.Gln249=) c.544A= c.557A= (p.Gln186=) n.272A= | |
| 19 | g.41419294A>C | CA406011223 | BCKDHA | c.644A>C (p.Gln215Pro) c.578A>C (p.Gln193Pro) n.273A>C n.770A>C c.746A>C (p.Gln249Pro) c.544A>C c.557A>C (p.Gln186Pro) n.272A>C | |
| 19 | g.41419294A>G | CA406011225 | BCKDHA | c.644A>G (p.Gln215Arg) c.578A>G (p.Gln193Arg) n.273A>G n.770A>G c.746A>G (p.Gln249Arg) c.544A>G c.557A>G (p.Gln186Arg) n.272A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41419294A>T | CA406011227 | BCKDHA | c.644A>T (p.Gln215Leu) c.578A>T (p.Gln193Leu) n.273A>T n.770A>T c.746A>T (p.Gln249Leu) c.544A>T c.557A>T (p.Gln186Leu) n.272A>T | |
| 19 | g.41419294_41419295del | CA308521448 | BCKDHA | c.644_645del (p.Gln215ArgfsTer28) c.578_579del (p.Gln193ArgfsTer28) n.273_274del n.770_771del c.746_747del (p.Gln249ArgfsTer28) c.544_545del c.557_558del (p.Gln186ArgfsTer28) n.272_273del | ClinVar dbSNP |
| 19 | g.41419295G>A | CA507560159 | BCKDHA | c.645G>A (p.Gln215=) c.579G>A (p.Gln193=) n.274G>A n.771G>A c.747G>A (p.Gln249=) c.545G>A c.558G>A (p.Gln186=) n.273G>A |