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.41422167T>A | CA406012664 | BCKDHA | c.650T>A (p.Val217Glu) c.584T>A (p.Val195Glu) n.279T>A n.776T>A c.752T>A (p.Val251Glu) c.550T>A c.563T>A (p.Val188Glu) n.278T>A | |
| 19 | g.41422167T>C | CA406012665 | BCKDHA | c.650T>C (p.Val217Ala) c.584T>C (p.Val195Ala) n.279T>C n.776T>C c.752T>C (p.Val251Ala) c.550T>C c.563T>C (p.Val188Ala) n.278T>C | |
| 19 | g.41422167T>G | CA406012666 | BCKDHA | c.650T>G (p.Val217Gly) c.584T>G (p.Val195Gly) n.279T>G n.776T>G c.752T>G (p.Val251Gly) c.550T>G c.563T>G (p.Val188Gly) n.278T>G | gnomAD v4 |
| 19 | g.41422168G>A | CA507690292 | BCKDHA | c.651G>A (p.Val217=) c.585G>A (p.Val195=) n.280G>A n.777G>A c.753G>A (p.Val251=) c.551G>A c.564G>A (p.Val188=) n.279G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422168G>C | CA507690293 | BCKDHA | c.651G>C (p.Val217=) c.585G>C (p.Val195=) n.280G>C n.777G>C c.753G>C (p.Val251=) c.551G>C c.564G>C (p.Val188=) n.279G>C | |
| 19 | g.41422168G= | CA2336458978 | BCKDHA | c.651G= (p.Val217=) c.585G= (p.Val195=) n.280G= n.777G= c.753G= (p.Val251=) c.551G= c.564G= (p.Val188=) n.279G= | |
| 19 | g.41422168G>T | CA507690294 | BCKDHA | c.651G>T (p.Val217=) c.585G>T (p.Val195=) n.280G>T n.777G>T c.753G>T (p.Val251=) c.551G>T c.564G>T (p.Val188=) n.279G>T | |
| 19 | g.41422172del | CA2576793826 | BCKDHA | c.655del (p.Ala219ArgfsTer?) c.589del (p.Ala197ArgfsTer?) n.284del n.781del c.757del (p.Ala253ArgfsTer?) c.555del c.568del (p.Ala190ArgfsTer?) n.283del | ClinVar |
| 19 | g.41422169G>A | CA406012667 | BCKDHA | c.652G>A (p.Gly218Arg) c.586G>A (p.Gly196Arg) n.281G>A n.778G>A c.754G>A (p.Gly252Arg) c.552G>A c.565G>A (p.Gly189Arg) n.280G>A | |
| 19 | g.41422169G>C | CA406012668 | BCKDHA | c.652G>C (p.Gly218Arg) c.586G>C (p.Gly196Arg) n.281G>C n.778G>C c.754G>C (p.Gly252Arg) c.552G>C c.565G>C (p.Gly189Arg) n.280G>C | |
| 19 | g.41422169G>T | CA406012669 | BCKDHA | c.652G>T (p.Gly218Trp) c.586G>T (p.Gly196Trp) n.281G>T n.778G>T c.754G>T (p.Gly252Trp) c.552G>T c.565G>T (p.Gly189Trp) n.280G>T | |
| 19 | g.41422170G>A | CA406012672 | BCKDHA | c.653G>A (p.Gly218Glu) c.587G>A (p.Gly196Glu) n.282G>A n.779G>A c.755G>A (p.Gly252Glu) c.553G>A c.566G>A (p.Gly189Glu) n.281G>A | |
| 19 | g.41422170G>C | CA406012671 | BCKDHA | c.653G>C (p.Gly218Ala) c.587G>C (p.Gly196Ala) n.282G>C n.779G>C c.755G>C (p.Gly252Ala) c.553G>C c.566G>C (p.Gly189Ala) n.281G>C | ClinVar dbSNP |
| 19 | g.41422170G= | CA2336458979 | BCKDHA | c.653G= (p.Gly218=) c.587G= (p.Gly196=) n.282G= n.779G= c.755G= (p.Gly252=) c.553G= c.566G= (p.Gly189=) n.281G= | |
| 19 | g.41422170G>T | CA406012670 | BCKDHA | c.653G>T (p.Gly218Val) c.587G>T (p.Gly196Val) n.282G>T n.779G>T c.755G>T (p.Gly252Val) c.553G>T c.566G>T (p.Gly189Val) n.281G>T | |
| 19 | g.41422171G>A | CA507690302 | BCKDHA | c.654G>A (p.Gly218=) c.588G>A (p.Gly196=) n.283G>A n.780G>A c.756G>A (p.Gly252=) c.554G>A c.567G>A (p.Gly189=) n.282G>A | |
| 19 | g.41422171G>C | CA507690304 | BCKDHA | c.654G>C (p.Gly218=) c.588G>C (p.Gly196=) n.283G>C n.780G>C c.756G>C (p.Gly252=) c.554G>C c.567G>C (p.Gly189=) n.282G>C | |
| 19 | g.41422171G>T | CA507690303 | BCKDHA | c.654G>T (p.Gly218=) c.588G>T (p.Gly196=) n.283G>T n.780G>T c.756G>T (p.Gly252=) c.554G>T c.567G>T (p.Gly189=) n.282G>T | |
| 19 | g.41422172G>A | CA406012675 | BCKDHA | c.655G>A (p.Ala219Thr) c.589G>A (p.Ala197Thr) n.284G>A n.781G>A c.757G>A (p.Ala253Thr) c.555G>A c.568G>A (p.Ala190Thr) n.283G>A | |
| 19 | g.41422172G>C | CA406012673 | BCKDHA | c.655G>C (p.Ala219Pro) c.589G>C (p.Ala197Pro) n.284G>C n.781G>C c.757G>C (p.Ala253Pro) c.555G>C c.568G>C (p.Ala190Pro) n.283G>C | |
| 19 | g.41422172G>T | CA406012674 | BCKDHA | c.655G>T (p.Ala219Ser) c.589G>T (p.Ala197Ser) n.284G>T n.781G>T c.757G>T (p.Ala253Ser) c.555G>T c.568G>T (p.Ala190Ser) n.283G>T | |
| 19 | g.41422173C>A | CA9461234 | BCKDHA | c.656C>A (p.Ala219Glu) c.590C>A (p.Ala197Glu) n.285C>A n.782C>A c.758C>A (p.Ala253Glu) c.556C>A c.569C>A (p.Ala190Glu) n.284C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422173C= | CA2336458980 | BCKDHA | c.656C= (p.Ala219=) c.590C= (p.Ala197=) n.285C= n.782C= c.758C= (p.Ala253=) c.556C= c.569C= (p.Ala190=) n.284C= | |
| 19 | g.41422173C>G | CA406012676 | BCKDHA | c.656C>G (p.Ala219Gly) c.590C>G (p.Ala197Gly) n.285C>G n.782C>G c.758C>G (p.Ala253Gly) c.556C>G c.569C>G (p.Ala190Gly) n.284C>G | |
| 19 | g.41422173C>T | CA9461233 | BCKDHA | c.656C>T (p.Ala219Val) c.590C>T (p.Ala197Val) n.285C>T n.782C>T c.758C>T (p.Ala253Val) c.556C>T c.569C>T (p.Ala190Val) n.284C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.41422174G>A | CA9461235 | BCKDHA | c.657G>A (p.Ala219=) c.591G>A (p.Ala197=) n.286G>A n.783G>A c.759G>A (p.Ala253=) c.557G>A c.570G>A (p.Ala190=) n.285G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422174G>C | CA507690310 | BCKDHA | c.657G>C (p.Ala219=) c.591G>C (p.Ala197=) n.286G>C n.783G>C c.759G>C (p.Ala253=) c.557G>C c.570G>C (p.Ala190=) n.285G>C | ClinVar gnomAD v4 |
| 19 | g.41422174G= | CA2336458981 | BCKDHA | c.657G= (p.Ala219=) c.591G= (p.Ala197=) n.286G= n.783G= c.759G= (p.Ala253=) c.557G= c.570G= (p.Ala190=) n.285G= | |
| 19 | g.41422174G>T | CA507690311 | BCKDHA | c.657G>T (p.Ala219=) c.591G>T (p.Ala197=) n.286G>T n.783G>T c.759G>T (p.Ala253=) c.557G>T c.570G>T (p.Ala190=) n.285G>T | |
| 19 | g.41422175G>A | CA406012677 | BCKDHA | c.658G>A (p.Ala220Thr) c.592G>A (p.Ala198Thr) n.287G>A n.784G>A c.760G>A (p.Ala254Thr) c.558G>A c.571G>A (p.Ala191Thr) n.286G>A | |
| 19 | g.41422175G>C | CA406012678 | BCKDHA | c.658G>C (p.Ala220Pro) c.592G>C (p.Ala198Pro) n.287G>C n.784G>C c.760G>C (p.Ala254Pro) c.558G>C c.571G>C (p.Ala191Pro) n.286G>C | |
| 19 | g.41422175G>T | CA406012679 | BCKDHA | c.658G>T (p.Ala220Ser) c.592G>T (p.Ala198Ser) n.287G>T n.784G>T c.760G>T (p.Ala254Ser) c.558G>T c.571G>T (p.Ala191Ser) n.286G>T | |
| 19 | g.41422175_41422179delinsGCGTA | CA2336458982 | BCKDHA | c.658_662delinsGCGTA (p.Ala220=) c.592_596delinsGCGTA (p.Ala198=) n.287_291delinsGCGTA n.784_788delinsGCGTA c.760_764delinsGCGTA (p.Ala254=) c.558_562delinsGCGTA c.571_575delinsGCGTA (p.Ala191=) n.286_290delinsGCGTA | |
| 19 | g.41422176del | CA2580097290 | BCKDHA | c.659del (p.Ala220GlyfsTer?) c.593del (p.Ala198GlyfsTer?) n.288del n.785del c.761del (p.Ala254GlyfsTer?) c.559del c.572del (p.Ala191GlyfsTer?) n.287del | ClinVar |
| 19 | g.41422176C>A | CA406012680 | BCKDHA | c.659C>A (p.Ala220Glu) c.593C>A (p.Ala198Glu) n.288C>A n.785C>A c.761C>A (p.Ala254Glu) c.559C>A c.572C>A (p.Ala191Glu) n.287C>A | |
| 19 | g.41422176C= | CA2336458983 | BCKDHA | c.659C= (p.Ala220=) c.593C= (p.Ala198=) n.288C= n.785C= c.761C= (p.Ala254=) c.559C= c.572C= (p.Ala191=) n.287C= | |
| 19 | g.41422176C>G | CA406012681 | BCKDHA | c.659C>G (p.Ala220Gly) c.593C>G (p.Ala198Gly) n.288C>G n.785C>G c.761C>G (p.Ala254Gly) c.559C>G c.572C>G (p.Ala191Gly) n.287C>G | |
| 19 | g.41422176C>T | CA221207 | BCKDHA | c.659C>T (p.Ala220Val) c.593C>T (p.Ala198Val) n.288C>T n.785C>T c.761C>T (p.Ala254Val) c.559C>T c.572C>T (p.Ala191Val) n.287C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422178_41422181del | CA312364 | BCKDHA | c.661_664del (p.Tyr221GlnfsTer?) c.595_598del (p.Tyr199GlnfsTer?) n.290_293del n.787_790del c.763_766del (p.Tyr255GlnfsTer?) c.561_564del c.574_577del (p.Tyr192GlnfsTer?) n.289_292del | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422177G>A | CA9461236 | BCKDHA | c.660G>A (p.Ala220=) c.594G>A (p.Ala198=) n.289G>A n.786G>A c.762G>A (p.Ala254=) c.560G>A c.573G>A (p.Ala191=) n.288G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422177G>C | CA507690318 | BCKDHA | c.660G>C (p.Ala220=) c.594G>C (p.Ala198=) n.289G>C n.786G>C c.762G>C (p.Ala254=) c.560G>C c.573G>C (p.Ala191=) n.288G>C | |
| 19 | g.41422177G= | CA2336458984 | BCKDHA | c.660G= (p.Ala220=) c.594G= (p.Ala198=) n.289G= n.786G= c.762G= (p.Ala254=) c.560G= c.573G= (p.Ala191=) n.288G= | |
| 19 | g.41422177G>T | CA507690317 | BCKDHA | c.660G>T (p.Ala220=) c.594G>T (p.Ala198=) n.289G>T n.786G>T c.762G>T (p.Ala254=) c.560G>T c.573G>T (p.Ala191=) n.288G>T | |
| 19 | g.41422178T>A | CA406012683 | BCKDHA | c.661T>A (p.Tyr221Asn) c.595T>A (p.Tyr199Asn) n.290T>A n.787T>A c.763T>A (p.Tyr255Asn) c.561T>A c.574T>A (p.Tyr192Asn) n.289T>A | gnomAD v4 |
| 19 | g.41422178T>C | CA9461237 | BCKDHA | c.661T>C (p.Tyr221His) c.595T>C (p.Tyr199His) n.290T>C n.787T>C c.763T>C (p.Tyr255His) c.561T>C c.574T>C (p.Tyr192His) n.289T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422178T>G | CA406012682 | BCKDHA | c.661T>G (p.Tyr221Asp) c.595T>G (p.Tyr199Asp) n.290T>G n.787T>G c.763T>G (p.Tyr255Asp) c.561T>G c.574T>G (p.Tyr192Asp) n.289T>G | |
| 19 | g.41422178T= | CA2336458985 | BCKDHA | c.661T= (p.Tyr221=) c.595T= (p.Tyr199=) n.290T= n.787T= c.763T= (p.Tyr255=) c.561T= c.574T= (p.Tyr192=) n.289T= | |
| 19 | g.41422179A>C | CA406012684 | BCKDHA | c.662A>C (p.Tyr221Ser) c.596A>C (p.Tyr199Ser) n.291A>C n.788A>C c.764A>C (p.Tyr255Ser) c.562A>C c.575A>C (p.Tyr192Ser) n.290A>C | |
| 19 | g.41422179A>G | CA406012685 | BCKDHA | c.662A>G (p.Tyr221Cys) c.596A>G (p.Tyr199Cys) n.291A>G n.788A>G c.764A>G (p.Tyr255Cys) c.562A>G c.575A>G (p.Tyr192Cys) n.290A>G | |
| 19 | g.41422179A>T | CA406012686 | BCKDHA | c.662A>T (p.Tyr221Phe) c.596A>T (p.Tyr199Phe) n.291A>T n.788A>T c.764A>T (p.Tyr255Phe) c.562A>T c.575A>T (p.Tyr192Phe) n.290A>T |