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 |
|---|---|---|---|---|---|
| 17 | g.65197160T>A | CA400667416 | RGS9 | c.895T>A (p.Trp299Arg) c.886T>A (p.Trp296Arg) n.823T>A n.903T>A c.307T>A (p.Trp103Arg) | |
| 17 | g.65197160T>C | CA117815 | RGS9 | c.895T>C (p.Trp299Arg) c.886T>C (p.Trp296Arg) n.823T>C n.903T>C c.307T>C (p.Trp103Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.65197160T>G | CA400667419 | RGS9 | c.895T>G (p.Trp299Gly) c.886T>G (p.Trp296Gly) n.823T>G n.903T>G c.307T>G (p.Trp103Gly) | |
| 17 | g.65197160T= | CA2270722935 | RGS9 | c.895T= (p.Trp299=) c.886T= (p.Trp296=) n.823T= n.903T= c.307T= (p.Trp103=) | |
| 17 | g.65197161G>A | CA400667432 | RGS9 | c.896G>A (p.Trp299Ter) c.887G>A (p.Trp296Ter) n.824G>A n.904G>A c.308G>A (p.Trp103Ter) | |
| 17 | g.65197161G>C | CA400667429 | RGS9 | c.896G>C (p.Trp299Ser) c.887G>C (p.Trp296Ser) n.824G>C n.904G>C c.308G>C (p.Trp103Ser) | |
| 17 | g.65197161G>T | CA400667421 | RGS9 | c.896G>T (p.Trp299Leu) c.887G>T (p.Trp296Leu) n.824G>T n.904G>T c.308G>T (p.Trp103Leu) | |
| 17 | g.65197162G>A | CA400667436 | RGS9 | c.897G>A (p.Trp299Ter) c.888G>A (p.Trp296Ter) n.825G>A n.905G>A c.309G>A (p.Trp103Ter) | |
| 17 | g.65197162G>C | CA400667437 | RGS9 | c.897G>C (p.Trp299Cys) c.888G>C (p.Trp296Cys) n.825G>C n.905G>C c.309G>C (p.Trp103Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.65197162G= | CA2270722936 | RGS9 | c.897G= (p.Trp299=) c.888G= (p.Trp296=) n.825G= n.905G= c.309G= (p.Trp103=) | |
| 17 | g.65197162G>T | CA400667444 | RGS9 | c.897G>T (p.Trp299Cys) c.888G>T (p.Trp296Cys) n.825G>T n.905G>T c.309G>T (p.Trp103Cys) | |
| 17 | g.65197162_65197175delinsGGCCTTCAACTTCA | CA2270722937 | RGS9 | c.897_910delinsGGCCTTCAACTTCA (p.Trp299=) c.888_901delinsGGCCTTCAACTTCA (p.Trp296=) n.825_838delinsGGCCTTCAACTTCA n.905_918delinsGGCCTTCAACTTCA c.309_322delinsGGCCTTCAACTTCA (p.Trp103=) | |
| 17 | g.65197163G>A | CA400667447 | RGS9 | c.898G>A (p.Ala300Thr) c.889G>A (p.Ala297Thr) n.826G>A n.906G>A c.310G>A (p.Ala104Thr) | |
| 17 | g.65197163G>C | CA400667450 | RGS9 | c.898G>C (p.Ala300Pro) c.889G>C (p.Ala297Pro) n.826G>C n.906G>C c.310G>C (p.Ala104Pro) | |
| 17 | g.65197163G>T | CA400667452 | RGS9 | c.898G>T (p.Ala300Ser) c.889G>T (p.Ala297Ser) n.826G>T n.906G>T c.310G>T (p.Ala104Ser) | |
| 17 | g.65197165_65197177del | CA2270722938 | RGS9 | c.900_912del (p.Phe301AsnfsTer2) c.891_903del (p.Phe298AsnfsTer2) n.828_840del n.908_920del c.312_324del (p.Phe105AsnfsTer2) | dbSNP |
| 17 | g.65197164C>A | CA293058950 | RGS9 | c.899C>A (p.Ala300Asp) c.890C>A (p.Ala297Asp) n.827C>A n.907C>A c.311C>A (p.Ala104Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.65197164C= | CA2270722939 | RGS9 | c.899C= (p.Ala300=) c.890C= (p.Ala297=) n.827C= n.907C= c.311C= (p.Ala104=) | |
| 17 | g.65197164C>G | CA400667455 | RGS9 | c.899C>G (p.Ala300Gly) c.890C>G (p.Ala297Gly) n.827C>G n.907C>G c.311C>G (p.Ala104Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.65197164C>T | CA400667453 | RGS9 | c.899C>T (p.Ala300Val) c.890C>T (p.Ala297Val) n.827C>T n.907C>T c.311C>T (p.Ala104Val) | |
| 17 | g.65197165C>A | CA501472742 | RGS9 | c.900C>A (p.Ala300=) c.891C>A (p.Ala297=) n.828C>A n.908C>A c.312C>A (p.Ala104=) | gnomAD v4 COSMIC |
| 17 | g.65197165C>G | CA501472744 | RGS9 | c.900C>G (p.Ala300=) c.891C>G (p.Ala297=) n.828C>G n.908C>G c.312C>G (p.Ala104=) | |
| 17 | g.65197165C>T | CA501472743 | RGS9 | c.900C>T (p.Ala300=) c.891C>T (p.Ala297=) n.828C>T n.908C>T c.312C>T (p.Ala104=) | gnomAD v4 |
| 17 | g.65197166T>A | CA400667457 | RGS9 | c.901T>A (p.Phe301Ile) c.892T>A (p.Phe298Ile) n.829T>A n.909T>A c.313T>A (p.Phe105Ile) | |
| 17 | g.65197166T>C | CA400667460 | RGS9 | c.901T>C (p.Phe301Leu) c.892T>C (p.Phe298Leu) n.829T>C n.909T>C c.313T>C (p.Phe105Leu) | |
| 17 | g.65197166T>G | CA400667462 | RGS9 | c.901T>G (p.Phe301Val) c.892T>G (p.Phe298Val) n.829T>G n.909T>G c.313T>G (p.Phe105Val) | |
| 17 | g.65197167T>A | CA400667465 | RGS9 | c.902T>A (p.Phe301Tyr) c.893T>A (p.Phe298Tyr) n.830T>A n.910T>A c.314T>A (p.Phe105Tyr) | |
| 17 | g.65197167T>C | CA400667467 | RGS9 | c.902T>C (p.Phe301Ser) c.893T>C (p.Phe298Ser) n.830T>C n.910T>C c.314T>C (p.Phe105Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.65197167T>G | CA400667469 | RGS9 | c.902T>G (p.Phe301Cys) c.893T>G (p.Phe298Cys) n.830T>G n.910T>G c.314T>G (p.Phe105Cys) | |
| 17 | g.65197167T= | CA2270722940 | RGS9 | c.902T= (p.Phe301=) c.893T= (p.Phe298=) n.830T= n.910T= c.314T= (p.Phe105=) | |
| 17 | g.65197168C>A | CA400667472 | RGS9 | c.903C>A (p.Phe301Leu) c.894C>A (p.Phe298Leu) n.831C>A n.911C>A c.315C>A (p.Phe105Leu) | |
| 17 | g.65197168C>G | CA400667474 | RGS9 | c.903C>G (p.Phe301Leu) c.894C>G (p.Phe298Leu) n.831C>G n.911C>G c.315C>G (p.Phe105Leu) | |
| 17 | g.65197168C>T | CA501472745 | RGS9 | c.903C>T (p.Phe301=) c.894C>T (p.Phe298=) n.831C>T n.911C>T c.315C>T (p.Phe105=) | |
| 17 | g.65197169A>C | CA400667477 | RGS9 | c.904A>C (p.Asn302His) c.895A>C (p.Asn299His) n.832A>C n.912A>C c.316A>C (p.Asn106His) | |
| 17 | g.65197169A>G | CA400667485 | RGS9 | c.904A>G (p.Asn302Asp) c.895A>G (p.Asn299Asp) n.832A>G n.912A>G c.316A>G (p.Asn106Asp) | |
| 17 | g.65197169A>T | CA400667488 | RGS9 | c.904A>T (p.Asn302Tyr) c.895A>T (p.Asn299Tyr) n.832A>T n.912A>T c.316A>T (p.Asn106Tyr) | |
| 17 | g.65197170A>C | CA400667492 | RGS9 | c.905A>C (p.Asn302Thr) c.896A>C (p.Asn299Thr) n.833A>C n.913A>C c.317A>C (p.Asn106Thr) | |
| 17 | g.65197170A>G | CA400667493 | RGS9 | c.905A>G (p.Asn302Ser) c.896A>G (p.Asn299Ser) n.833A>G n.913A>G c.317A>G (p.Asn106Ser) | |
| 17 | g.65197170A>T | CA400667490 | RGS9 | c.905A>T (p.Asn302Ile) c.896A>T (p.Asn299Ile) n.833A>T n.913A>T c.317A>T (p.Asn106Ile) | |
| 17 | g.65197171C>A | CA400667495 | RGS9 | c.906C>A (p.Asn302Lys) c.897C>A (p.Asn299Lys) n.834C>A n.914C>A c.318C>A (p.Asn106Lys) | |
| 17 | g.65197171C>G | CA400667497 | RGS9 | c.906C>G (p.Asn302Lys) c.897C>G (p.Asn299Lys) n.834C>G n.914C>G c.318C>G (p.Asn106Lys) | |
| 17 | g.65197171C>T | CA501472746 | RGS9 | c.906C>T (p.Asn302=) c.897C>T (p.Asn299=) n.834C>T n.914C>T c.318C>T (p.Asn106=) | gnomAD v4 |
| 17 | g.65197172T>A | CA400667499 | RGS9 | c.907T>A (p.Phe303Ile) c.898T>A (p.Phe300Ile) n.835T>A n.915T>A c.319T>A (p.Phe107Ile) | |
| 17 | g.65197172T>C | CA400667501 | RGS9 | c.907T>C (p.Phe303Leu) c.898T>C (p.Phe300Leu) n.835T>C n.915T>C c.319T>C (p.Phe107Leu) | |
| 17 | g.65197172T>G | CA400667503 | RGS9 | c.907T>G (p.Phe303Val) c.898T>G (p.Phe300Val) n.835T>G n.915T>G c.319T>G (p.Phe107Val) | |
| 17 | g.65197173T>A | CA400667505 | RGS9 | c.908T>A (p.Phe303Tyr) c.899T>A (p.Phe300Tyr) n.836T>A n.916T>A c.320T>A (p.Phe107Tyr) | |
| 17 | g.65197173T>C | CA400667506 | RGS9 | c.908T>C (p.Phe303Ser) c.899T>C (p.Phe300Ser) n.836T>C n.916T>C c.320T>C (p.Phe107Ser) | |
| 17 | g.65197173T>G | CA400667507 | RGS9 | c.908T>G (p.Phe303Cys) c.899T>G (p.Phe300Cys) n.836T>G n.916T>G c.320T>G (p.Phe107Cys) | |
| 17 | g.65197174C>A | CA400667509 | RGS9 | c.909C>A (p.Phe303Leu) c.900C>A (p.Phe300Leu) n.837C>A n.917C>A c.321C>A (p.Phe107Leu) | |
| 17 | g.65197174C>G | CA400667511 | RGS9 | c.909C>G (p.Phe303Leu) c.900C>G (p.Phe300Leu) n.837C>G n.917C>G c.321C>G (p.Phe107Leu) |