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.38561342A>C | CA405669440 | RYR1 | c.922A>C c.904A>C c.12512A>C (p.Glu4171Ala) c.12497A>C (p.Glu4166Ala) c.12494A>C (p.Glu4165Ala) c.5881A>C c.12479A>C (p.Glu4160Ala) c.12509A>C (p.Glu4170Ala) | |
| 19 | g.38561342A>G | CA405669433 | RYR1 | c.922A>G c.904A>G c.12512A>G (p.Glu4171Gly) c.12497A>G (p.Glu4166Gly) c.12494A>G (p.Glu4165Gly) c.5881A>G c.12479A>G (p.Glu4160Gly) c.12509A>G (p.Glu4170Gly) | gnomAD v4 |
| 19 | g.38561342A>T | CA405669436 | RYR1 | c.922A>T c.904A>T c.12512A>T (p.Glu4171Val) c.12497A>T (p.Glu4166Val) c.12494A>T (p.Glu4165Val) c.5881A>T c.12479A>T (p.Glu4160Val) c.12509A>T (p.Glu4170Val) | |
| 19 | g.38561343G>A | CA507355333 | RYR1 | c.923G>A c.905G>A c.12513G>A (p.Glu4171=) c.12498G>A (p.Glu4166=) c.12495G>A (p.Glu4165=) c.5882G>A c.12480G>A (p.Glu4160=) c.12510G>A (p.Glu4170=) | |
| 19 | g.38561343G>C | CA405669444 | RYR1 | c.923G>C c.905G>C c.12513G>C (p.Glu4171Asp) c.12498G>C (p.Glu4166Asp) c.12495G>C (p.Glu4165Asp) c.5882G>C c.12480G>C (p.Glu4160Asp) c.12510G>C (p.Glu4170Asp) | |
| 19 | g.38561343G>T | CA405669445 | RYR1 | c.923G>T c.905G>T c.12513G>T (p.Glu4171Asp) c.12498G>T (p.Glu4166Asp) c.12495G>T (p.Glu4165Asp) c.5882G>T c.12480G>T (p.Glu4160Asp) c.12510G>T (p.Glu4170Asp) | dbSNP gnomAD v4 |
| 19 | g.38561344T>A | CA405669446 | RYR1 | c.924T>A c.906T>A c.12514T>A (p.Tyr4172Asn) c.12499T>A (p.Tyr4167Asn) c.12496T>A (p.Tyr4166Asn) c.5883T>A c.12481T>A (p.Tyr4161Asn) c.12511T>A (p.Tyr4171Asn) | |
| 19 | g.38561344T>C | CA405669447 | RYR1 | c.924T>C c.906T>C c.12514T>C (p.Tyr4172His) c.12499T>C (p.Tyr4167His) c.12496T>C (p.Tyr4166His) c.5883T>C c.12481T>C (p.Tyr4161His) c.12511T>C (p.Tyr4171His) | |
| 19 | g.38561344T>G | CA405669448 | RYR1 | c.924T>G c.906T>G c.12514T>G (p.Tyr4172Asp) c.12499T>G (p.Tyr4167Asp) c.12496T>G (p.Tyr4166Asp) c.5883T>G c.12481T>G (p.Tyr4161Asp) c.12511T>G (p.Tyr4171Asp) | |
| 19 | g.38561345A>C | CA405669449 | RYR1 | c.925A>C c.907A>C c.12515A>C (p.Tyr4172Ser) c.12500A>C (p.Tyr4167Ser) c.12497A>C (p.Tyr4166Ser) c.5884A>C c.12482A>C (p.Tyr4161Ser) c.12512A>C (p.Tyr4171Ser) | |
| 19 | g.38561345A>G | CA405669451 | RYR1 | c.925A>G c.907A>G c.12515A>G (p.Tyr4172Cys) c.12500A>G (p.Tyr4167Cys) c.12497A>G (p.Tyr4166Cys) c.5884A>G c.12482A>G (p.Tyr4161Cys) c.12512A>G (p.Tyr4171Cys) | |
| 19 | g.38561345A>T | CA405669450 | RYR1 | c.925A>T c.907A>T c.12515A>T (p.Tyr4172Phe) c.12500A>T (p.Tyr4167Phe) c.12497A>T (p.Tyr4166Phe) c.5884A>T c.12482A>T (p.Tyr4161Phe) c.12512A>T (p.Tyr4171Phe) | |
| 19 | g.38561346C>A | CA405669453 | RYR1 | c.926C>A c.908C>A c.12516C>A (p.Tyr4172Ter) c.12501C>A (p.Tyr4167Ter) c.12498C>A (p.Tyr4166Ter) c.5885C>A c.12483C>A (p.Tyr4161Ter) c.12513C>A (p.Tyr4171Ter) | |
| 19 | g.38561346C>G | CA405669454 | RYR1 | c.926C>G c.908C>G c.12516C>G (p.Tyr4172Ter) c.12501C>G (p.Tyr4167Ter) c.12498C>G (p.Tyr4166Ter) c.5885C>G c.12483C>G (p.Tyr4161Ter) c.12513C>G (p.Tyr4171Ter) | |
| 19 | g.38561346C>T | CA507355334 | RYR1 | c.926C>T c.908C>T c.12516C>T (p.Tyr4172=) c.12501C>T (p.Tyr4167=) c.12498C>T (p.Tyr4166=) c.5885C>T c.12483C>T (p.Tyr4161=) c.12513C>T (p.Tyr4171=) | |
| 19 | g.38561347T>A | CA405669455 | RYR1 | c.927T>A c.909T>A c.12517T>A (p.Phe4173Ile) c.12502T>A (p.Phe4168Ile) c.12499T>A (p.Phe4167Ile) c.5886T>A c.12484T>A (p.Phe4162Ile) c.12514T>A (p.Phe4172Ile) | |
| 19 | g.38561347T>C | CA405669456 | RYR1 | c.927T>C c.909T>C c.12517T>C (p.Phe4173Leu) c.12502T>C (p.Phe4168Leu) c.12499T>C (p.Phe4167Leu) c.5886T>C c.12484T>C (p.Phe4162Leu) c.12514T>C (p.Phe4172Leu) | |
| 19 | g.38561347T>G | CA405669457 | RYR1 | c.927T>G c.909T>G c.12517T>G (p.Phe4173Val) c.12502T>G (p.Phe4168Val) c.12499T>G (p.Phe4167Val) c.5886T>G c.12484T>G (p.Phe4162Val) c.12514T>G (p.Phe4172Val) | |
| 19 | g.38561348T>A | CA405669459 | RYR1 | c.928T>A c.910T>A c.12518T>A (p.Phe4173Tyr) c.12503T>A (p.Phe4168Tyr) c.12500T>A (p.Phe4167Tyr) c.5887T>A c.12485T>A (p.Phe4162Tyr) c.12515T>A (p.Phe4172Tyr) | |
| 19 | g.38561348T>C | CA405669461 | RYR1 | c.928T>C c.910T>C c.12518T>C (p.Phe4173Ser) c.12503T>C (p.Phe4168Ser) c.12500T>C (p.Phe4167Ser) c.5887T>C c.12485T>C (p.Phe4162Ser) c.12515T>C (p.Phe4172Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561348T>G | CA405669462 | RYR1 | c.928T>G c.910T>G c.12518T>G (p.Phe4173Cys) c.12503T>G (p.Phe4168Cys) c.12500T>G (p.Phe4167Cys) c.5887T>G c.12485T>G (p.Phe4162Cys) c.12515T>G (p.Phe4172Cys) | |
| 19 | g.38561348T= | CA2335082626 | RYR1 | c.928T= c.910T= c.12518T= (p.Phe4173=) c.12503T= (p.Phe4168=) c.12500T= (p.Phe4167=) c.5887T= c.12485T= (p.Phe4162=) c.12515T= (p.Phe4172=) | |
| 19 | g.38561349C>A | CA405669463 | RYR1 | c.929C>A c.911C>A c.12519C>A (p.Phe4173Leu) c.12504C>A (p.Phe4168Leu) c.12501C>A (p.Phe4167Leu) c.5888C>A c.12486C>A (p.Phe4162Leu) c.12516C>A (p.Phe4172Leu) | |
| 19 | g.38561349C= | CA2335082627 | RYR1 | c.929C= c.911C= c.12519C= (p.Phe4173=) c.12504C= (p.Phe4168=) c.12501C= (p.Phe4167=) c.5888C= c.12486C= (p.Phe4162=) c.12516C= (p.Phe4172=) | |
| 19 | g.38561349C>G | CA405669466 | RYR1 | c.929C>G c.911C>G c.12519C>G (p.Phe4173Leu) c.12504C>G (p.Phe4168Leu) c.12501C>G (p.Phe4167Leu) c.5888C>G c.12486C>G (p.Phe4162Leu) c.12516C>G (p.Phe4172Leu) | |
| 19 | g.38561349C>T | CA308105895 | RYR1 | c.929C>T c.911C>T c.12519C>T (p.Phe4173=) c.12504C>T (p.Phe4168=) c.12501C>T (p.Phe4167=) c.5888C>T c.12486C>T (p.Phe4162=) c.12516C>T (p.Phe4172=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38561350dup | CA2576772060 | RYR1 | c.930dup c.912dup c.12520dup (p.Arg4174ProfsTer?) c.12505dup (p.Arg4169ProfsTer?) c.12502dup (p.Arg4168ProfsTer?) c.5889dup c.12487dup (p.Arg4163ProfsTer?) c.12517dup (p.Arg4173ProfsTer?) | |
| 19 | g.38561350C>A | CA405669474 | RYR1 | c.930C>A c.912C>A c.12520C>A (p.Arg4174Ser) c.12505C>A (p.Arg4169Ser) c.12502C>A (p.Arg4168Ser) c.5889C>A c.12487C>A (p.Arg4163Ser) c.12517C>A (p.Arg4173Ser) | dbSNP |
| 19 | g.38561350C= | CA2335082628 | RYR1 | c.930C= c.912C= c.12520C= (p.Arg4174=) c.12505C= (p.Arg4169=) c.12502C= (p.Arg4168=) c.5889C= c.12487C= (p.Arg4163=) c.12517C= (p.Arg4173=) | |
| 19 | g.38561350C>G | CA405669475 | RYR1 | c.930C>G c.912C>G c.12520C>G (p.Arg4174Gly) c.12505C>G (p.Arg4169Gly) c.12502C>G (p.Arg4168Gly) c.5889C>G c.12487C>G (p.Arg4163Gly) c.12517C>G (p.Arg4173Gly) | |
| 19 | g.38561350C>T | CA405669473 | RYR1 | c.930C>T c.912C>T c.12520C>T (p.Arg4174Cys) c.12505C>T (p.Arg4169Cys) c.12502C>T (p.Arg4168Cys) c.5889C>T c.12487C>T (p.Arg4163Cys) c.12517C>T (p.Arg4173Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561351G>A | CA405669476 | RYR1 | c.931G>A c.913G>A c.12521G>A (p.Arg4174His) c.12506G>A (p.Arg4169His) c.12503G>A (p.Arg4168His) c.5890G>A c.12488G>A (p.Arg4163His) c.12518G>A (p.Arg4173His) | COSMIC |
| 19 | g.38561351G>C | CA405669480 | RYR1 | c.931G>C c.913G>C c.12521G>C (p.Arg4174Pro) c.12506G>C (p.Arg4169Pro) c.12503G>C (p.Arg4168Pro) c.5890G>C c.12488G>C (p.Arg4163Pro) c.12518G>C (p.Arg4173Pro) | ClinVar dbSNP |
| 19 | g.38561351G= | CA2335082629 | RYR1 | c.931G= c.913G= c.12521G= (p.Arg4174=) c.12506G= (p.Arg4169=) c.12503G= (p.Arg4168=) c.5890G= c.12488G= (p.Arg4163=) c.12518G= (p.Arg4173=) | |
| 19 | g.38561351G>T | CA405669478 | RYR1 | c.931G>T c.913G>T c.12521G>T (p.Arg4174Leu) c.12506G>T (p.Arg4169Leu) c.12503G>T (p.Arg4168Leu) c.5890G>T c.12488G>T (p.Arg4163Leu) c.12518G>T (p.Arg4173Leu) | |
| 19 | g.38561352C>A | CA507355335 | RYR1 | c.932C>A c.914C>A c.12522C>A (p.Arg4174=) c.12507C>A (p.Arg4169=) c.12504C>A (p.Arg4168=) c.5891C>A c.12489C>A (p.Arg4163=) c.12519C>A (p.Arg4173=) | gnomAD v4 |
| 19 | g.38561352C= | CA2335082630 | RYR1 | c.932C= c.914C= c.12522C= (p.Arg4174=) c.12507C= (p.Arg4169=) c.12504C= (p.Arg4168=) c.5891C= c.12489C= (p.Arg4163=) c.12519C= (p.Arg4173=) | |
| 19 | g.38561352C>G | CA507355336 | RYR1 | c.932C>G c.914C>G c.12522C>G (p.Arg4174=) c.12507C>G (p.Arg4169=) c.12504C>G (p.Arg4168=) c.5891C>G c.12489C>G (p.Arg4163=) c.12519C>G (p.Arg4173=) | |
| 19 | g.38561352C>T | CA059042 | RYR1 | c.932C>T c.914C>T c.12522C>T (p.Arg4174=) c.12507C>T (p.Arg4169=) c.12504C>T (p.Arg4168=) c.5891C>T c.12489C>T (p.Arg4163=) c.12519C>T (p.Arg4173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561353C>A | CA405669486 | RYR1 | c.933C>A c.915C>A c.12523C>A (p.Pro4175Thr) c.12508C>A (p.Pro4170Thr) c.12505C>A (p.Pro4169Thr) c.5892C>A c.12490C>A (p.Pro4164Thr) c.12520C>A (p.Pro4174Thr) | |
| 19 | g.38561353C= | CA2335082631 | RYR1 | c.933C= c.915C= c.12523C= (p.Pro4175=) c.12508C= (p.Pro4170=) c.12505C= (p.Pro4169=) c.5892C= c.12490C= (p.Pro4164=) c.12520C= (p.Pro4174=) | |
| 19 | g.38561353C>G | CA059048 | RYR1 | c.933C>G c.915C>G c.12523C>G (p.Pro4175Ala) c.12508C>G (p.Pro4170Ala) c.12505C>G (p.Pro4169Ala) c.5892C>G c.12490C>G (p.Pro4164Ala) c.12520C>G (p.Pro4174Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561353C>T | CA405669490 | RYR1 | c.933C>T c.915C>T c.12523C>T (p.Pro4175Ser) c.12508C>T (p.Pro4170Ser) c.12505C>T (p.Pro4169Ser) c.5892C>T c.12490C>T (p.Pro4164Ser) c.12520C>T (p.Pro4174Ser) | ClinVar dbSNP |
| 19 | g.38561354C>A | CA405669494 | RYR1 | c.934C>A c.916C>A c.12524C>A (p.Pro4175His) c.12509C>A (p.Pro4170His) c.12506C>A (p.Pro4169His) c.5893C>A c.12491C>A (p.Pro4164His) c.12521C>A (p.Pro4174His) | |
| 19 | g.38561354C>G | CA405669496 | RYR1 | c.934C>G c.916C>G c.12524C>G (p.Pro4175Arg) c.12509C>G (p.Pro4170Arg) c.12506C>G (p.Pro4169Arg) c.5893C>G c.12491C>G (p.Pro4164Arg) c.12521C>G (p.Pro4174Arg) | |
| 19 | g.38561354C>T | CA405669501 | RYR1 | c.934C>T c.916C>T c.12524C>T (p.Pro4175Leu) c.12509C>T (p.Pro4170Leu) c.12506C>T (p.Pro4169Leu) c.5893C>T c.12491C>T (p.Pro4164Leu) c.12521C>T (p.Pro4174Leu) | |
| 19 | g.38561356_38561357insGCCT | CA2573054757 | RYR1 | c.936_937insGCCT c.918_919insGCCT c.12526_12527insGCCT (p.Tyr4176CysfsTer?) c.12511_12512insGCCT (p.Tyr4171CysfsTer?) c.12508_12509insGCCT (p.Tyr4170CysfsTer?) c.5895_5896insGCCT c.12493_12494insGCCT (p.Tyr4165CysfsTer?) c.12523_12524insGCCT (p.Tyr4175CysfsTer?) | ClinVar dbSNP |
| 19 | g.38561355C>A | CA507355337 | RYR1 | c.935C>A c.917C>A c.12525C>A (p.Pro4175=) c.12510C>A (p.Pro4170=) c.12507C>A (p.Pro4169=) c.5894C>A c.12492C>A (p.Pro4164=) c.12522C>A (p.Pro4174=) | |
| 19 | g.38561355C= | CA2335082632 | RYR1 | c.935C= c.917C= c.12525C= (p.Pro4175=) c.12510C= (p.Pro4170=) c.12507C= (p.Pro4169=) c.5894C= c.12492C= (p.Pro4164=) c.12522C= (p.Pro4174=) | |
| 19 | g.38561355C>G | CA507355338 | RYR1 | c.935C>G c.917C>G c.12525C>G (p.Pro4175=) c.12510C>G (p.Pro4170=) c.12507C>G (p.Pro4169=) c.5894C>G c.12492C>G (p.Pro4164=) c.12522C>G (p.Pro4174=) |