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 |
|---|---|---|---|---|---|
| 1 | g.237377374G>A | CA345375574 | RYR2 | c.515G>A (p.Gly172Glu) c.467G>A (p.Gly156Glu) n.796G>A c.494G>A (p.Gly165Glu) n.829G>A | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.237377374G>C | CA345375576 | RYR2 | c.515G>C (p.Gly172Ala) c.467G>C (p.Gly156Ala) n.796G>C c.494G>C (p.Gly165Ala) n.829G>C | |
| 1 | g.237377374G= | CA2487310779 | RYR2 | c.515G= (p.Gly172=) c.467G= (p.Gly156=) n.796G= c.494G= (p.Gly165=) n.829G= | |
| 1 | g.237377374G>T | CA345375579 | RYR2 | c.515G>T (p.Gly172Val) c.467G>T (p.Gly156Val) n.796G>T c.494G>T (p.Gly165Val) n.829G>T | |
| 1 | g.237377375A>C | CA423808719 | RYR2 | c.516A>C (p.Gly172=) c.468A>C (p.Gly156=) n.797A>C c.495A>C (p.Gly165=) n.830A>C | |
| 1 | g.237377375A>G | CA423808720 | RYR2 | c.516A>G (p.Gly172=) c.468A>G (p.Gly156=) n.797A>G c.495A>G (p.Gly165=) n.830A>G | |
| 1 | g.237377375A>T | CA423808721 | RYR2 | c.516A>T (p.Gly172=) c.468A>T (p.Gly156=) n.797A>T c.495A>T (p.Gly165=) n.830A>T | ClinVar |
| 1 | g.237377376G>A | CA345375580 | RYR2 | c.517G>A (p.Glu173Lys) c.469G>A (p.Glu157Lys) n.798G>A c.496G>A (p.Glu166Lys) n.831G>A | |
| 1 | g.237377376G>C | CA345375581 | RYR2 | c.517G>C (p.Glu173Gln) c.469G>C (p.Glu157Gln) n.798G>C c.496G>C (p.Glu166Gln) n.831G>C | |
| 1 | g.237377376G>T | CA345375582 | RYR2 | c.517G>T (p.Glu173Ter) c.469G>T (p.Glu157Ter) n.798G>T c.496G>T (p.Glu166Ter) n.831G>T | |
| 1 | g.237377377A>C | CA345375584 | RYR2 | c.518A>C (p.Glu173Ala) c.470A>C (p.Glu157Ala) n.799A>C c.497A>C (p.Glu166Ala) n.832A>C | |
| 1 | g.237377377A>G | CA345375585 | RYR2 | c.518A>G (p.Glu173Gly) c.470A>G (p.Glu157Gly) n.799A>G c.497A>G (p.Glu166Gly) n.832A>G | |
| 1 | g.237377377A>T | CA345375587 | RYR2 | c.518A>T (p.Glu173Val) c.470A>T (p.Glu157Val) n.799A>T c.497A>T (p.Glu166Val) n.832A>T | |
| 1 | g.237377378A= | CA2487310780 | RYR2 | c.519A= (p.Glu173=) c.471A= (p.Glu157=) n.800A= c.498A= (p.Glu166=) n.833A= | |
| 1 | g.237377378A>C | CA345375589 | RYR2 | c.519A>C (p.Glu173Asp) c.471A>C (p.Glu157Asp) n.800A>C c.498A>C (p.Glu166Asp) n.833A>C | |
| 1 | g.237377378A>G | CA423808722 | RYR2 | c.519A>G (p.Glu173=) c.471A>G (p.Glu157=) n.800A>G c.498A>G (p.Glu166=) n.833A>G | ClinVar dbSNP |
| 1 | g.237377378A>T | CA345375591 | RYR2 | c.519A>T (p.Glu173Asp) c.471A>T (p.Glu157Asp) n.800A>T c.498A>T (p.Glu166Asp) n.833A>T | |
| 1 | g.237377379A>C | CA345375593 | RYR2 | c.520A>C (p.Lys174Gln) c.472A>C (p.Lys158Gln) n.801A>C c.499A>C (p.Lys167Gln) n.834A>C | |
| 1 | g.237377379A>G | CA345375595 | RYR2 | c.520A>G (p.Lys174Glu) c.472A>G (p.Lys158Glu) n.801A>G c.499A>G (p.Lys167Glu) n.834A>G | |
| 1 | g.237377379A>T | CA345375597 | RYR2 | c.520A>T (p.Lys174Ter) c.472A>T (p.Lys158Ter) n.801A>T c.499A>T (p.Lys167Ter) n.834A>T | |
| 1 | g.237377380A>C | CA345375599 | RYR2 | c.521A>C (p.Lys174Thr) c.473A>C (p.Lys158Thr) n.802A>C c.500A>C (p.Lys167Thr) n.835A>C | |
| 1 | g.237377380A>G | CA345375600 | RYR2 | c.521A>G (p.Lys174Arg) c.473A>G (p.Lys158Arg) n.802A>G c.500A>G (p.Lys167Arg) n.835A>G | |
| 1 | g.237377380A>T | CA345375603 | RYR2 | c.521A>T (p.Lys174Ile) c.473A>T (p.Lys158Ile) n.802A>T c.500A>T (p.Lys167Ile) n.835A>T | |
| 1 | g.237377381A>C | CA345375604 | RYR2 | c.522A>C (p.Lys174Asn) c.474A>C (p.Lys158Asn) n.803A>C c.501A>C (p.Lys167Asn) n.836A>C | |
| 1 | g.237377381A>G | CA423808723 | RYR2 | c.522A>G (p.Lys174=) c.474A>G (p.Lys158=) n.803A>G c.501A>G (p.Lys167=) n.836A>G | dbSNP COSMIC COSMIC |
| 1 | g.237377381A>T | CA345375606 | RYR2 | c.522A>T (p.Lys174Asn) c.474A>T (p.Lys158Asn) n.803A>T c.501A>T (p.Lys167Asn) n.836A>T | |
| 1 | g.237377382G>A | CA345375609 | RYR2 | c.523G>A (p.Val175Ile) c.475G>A (p.Val159Ile) n.804G>A c.502G>A (p.Val168Ile) n.837G>A | |
| 1 | g.237377382G>C | CA345375610 | RYR2 | c.523G>C (p.Val175Leu) c.475G>C (p.Val159Leu) n.804G>C c.502G>C (p.Val168Leu) n.837G>C | |
| 1 | g.237377382G>T | CA345375612 | RYR2 | c.523G>T (p.Val175Leu) c.475G>T (p.Val159Leu) n.804G>T c.502G>T (p.Val168Leu) n.837G>T | |
| 1 | g.237377383T>A | CA345375616 | RYR2 | c.524T>A (p.Val175Glu) c.476T>A (p.Val159Glu) n.805T>A c.503T>A (p.Val168Glu) n.838T>A | |
| 1 | g.237377383T>C | CA345375618 | RYR2 | c.524T>C (p.Val175Ala) c.476T>C (p.Val159Ala) n.805T>C c.503T>C (p.Val168Ala) n.838T>C | |
| 1 | g.237377383T>G | CA345375615 | RYR2 | c.524T>G (p.Val175Gly) c.476T>G (p.Val159Gly) n.805T>G c.503T>G (p.Val168Gly) n.838T>G | |
| 1 | g.237377384A= | CA2487310781 | RYR2 | c.525A= (p.Val175=) c.477A= (p.Val159=) n.806A= c.504A= (p.Val168=) n.839A= | |
| 1 | g.237377384A>C | CA423808724 | RYR2 | c.525A>C (p.Val175=) c.477A>C (p.Val159=) n.806A>C c.504A>C (p.Val168=) n.839A>C | |
| 1 | g.237377384A>G | CA39774123 | RYR2 | c.525A>G (p.Val175=) c.477A>G (p.Val159=) n.806A>G c.504A>G (p.Val168=) n.839A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237377384A>T | CA423808725 | RYR2 | c.525A>T (p.Val175=) c.477A>T (p.Val159=) n.806A>T c.504A>T (p.Val168=) n.839A>T | |
| 1 | g.237377385C>A | CA423808726 | RYR2 | c.526C>A (p.Arg176=) c.478C>A (p.Arg160=) n.807C>A c.505C>A (p.Arg169=) n.840C>A | |
| 1 | g.237377385C>G | CA345375622 | RYR2 | c.526C>G (p.Arg176Gly) c.478C>G (p.Arg160Gly) n.807C>G c.505C>G (p.Arg169Gly) n.840C>G | |
| 1 | g.237377385C>T | CA345375624 | RYR2 | c.526C>T (p.Arg176Ter) c.478C>T (p.Arg160Ter) n.807C>T c.505C>T (p.Arg169Ter) n.840C>T | gnomAD v4 COSMIC COSMIC |
| 1 | g.237377386G>A | CA009819 | RYR2 | c.527G>A (p.Arg176Gln) c.479G>A (p.Arg160Gln) n.808G>A c.506G>A (p.Arg169Gln) n.841G>A | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.237377386G>C | CA345375627 | RYR2 | c.527G>C (p.Arg176Pro) c.479G>C (p.Arg160Pro) n.808G>C c.506G>C (p.Arg169Pro) n.841G>C | |
| 1 | g.237377386G= | CA2487310782 | RYR2 | c.527G= (p.Arg176=) c.479G= (p.Arg160=) n.808G= c.506G= (p.Arg169=) n.841G= | |
| 1 | g.237377386G>T | CA009824 | RYR2 | c.527G>T (p.Arg176Leu) c.479G>T (p.Arg160Leu) n.808G>T c.506G>T (p.Arg169Leu) n.841G>T | ClinVar dbSNP |
| 1 | g.237377387A>C | CA423808727 | RYR2 | c.528A>C (p.Arg176=) c.480A>C (p.Arg160=) n.809A>C c.507A>C (p.Arg169=) n.842A>C | |
| 1 | g.237377387A>G | CA423808728 | RYR2 | c.528A>G (p.Arg176=) c.480A>G (p.Arg160=) n.809A>G c.507A>G (p.Arg169=) n.842A>G | |
| 1 | g.237377387A>T | CA423808729 | RYR2 | c.528A>T (p.Arg176=) c.480A>T (p.Arg160=) n.809A>T c.507A>T (p.Arg169=) n.842A>T | |
| 1 | g.237377388G>A | CA345375631 | RYR2 | c.529G>A (p.Val177Ile) c.481G>A (p.Val161Ile) n.810G>A c.508G>A (p.Val170Ile) n.843G>A | |
| 1 | g.237377388G>C | CA345375629 | RYR2 | c.529G>C (p.Val177Leu) c.481G>C (p.Val161Leu) n.810G>C c.508G>C (p.Val170Leu) n.843G>C | |
| 1 | g.237377388G>T | CA073145 | RYR2 | c.529G>T (p.Val177Phe) c.481G>T (p.Val161Phe) n.810G>T c.508G>T (p.Val170Phe) n.843G>T | |
| 1 | g.237377389T>A | CA345375634 | RYR2 | c.530T>A (p.Val177Asp) c.482T>A (p.Val161Asp) n.811T>A c.509T>A (p.Val170Asp) n.844T>A |