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.38561442G>A | CA023988 | RYR1 | c.1022G>A c.1004G>A c.12612G>A (p.Trp4204Ter) c.12597G>A (p.Trp4199Ter) c.12594G>A (p.Trp4198Ter) c.5981G>A c.12579G>A (p.Trp4193Ter) c.12609G>A (p.Trp4203Ter) | ClinVar dbSNP |
| 19 | g.38561442G>C | CA405669918 | RYR1 | c.1022G>C c.1004G>C c.12612G>C (p.Trp4204Cys) c.12597G>C (p.Trp4199Cys) c.12594G>C (p.Trp4198Cys) c.5981G>C c.12579G>C (p.Trp4193Cys) c.12609G>C (p.Trp4203Cys) | |
| 19 | g.38561442G= | CA2335082682 | RYR1 | c.1022G= c.1004G= c.12612G= (p.Trp4204=) c.12597G= (p.Trp4199=) c.12594G= (p.Trp4198=) c.5981G= c.12579G= (p.Trp4193=) c.12609G= (p.Trp4203=) | |
| 19 | g.38561442G>T | CA405669916 | RYR1 | c.1022G>T c.1004G>T c.12612G>T (p.Trp4204Cys) c.12597G>T (p.Trp4199Cys) c.12594G>T (p.Trp4198Cys) c.5981G>T c.12579G>T (p.Trp4193Cys) c.12609G>T (p.Trp4203Cys) | gnomAD v4 |
| 19 | g.38561443G>A | CA405669927 | RYR1 | c.1023G>A c.1005G>A c.12613G>A (p.Glu4205Lys) c.12598G>A (p.Glu4200Lys) c.12595G>A (p.Glu4199Lys) c.5982G>A c.12580G>A (p.Glu4194Lys) c.12610G>A (p.Glu4204Lys) | ClinVar dbSNP |
| 19 | g.38561443G>C | CA405669922 | RYR1 | c.1023G>C c.1005G>C c.12613G>C (p.Glu4205Gln) c.12598G>C (p.Glu4200Gln) c.12595G>C (p.Glu4199Gln) c.5982G>C c.12580G>C (p.Glu4194Gln) c.12610G>C (p.Glu4204Gln) | gnomAD v4 |
| 19 | g.38561443G= | CA2335082683 | RYR1 | c.1023G= c.1005G= c.12613G= (p.Glu4205=) c.12598G= (p.Glu4200=) c.12595G= (p.Glu4199=) c.5982G= c.12580G= (p.Glu4194=) c.12610G= (p.Glu4204=) | |
| 19 | g.38561443G>T | CA405669925 | RYR1 | c.1023G>T c.1005G>T c.12613G>T (p.Glu4205Ter) c.12598G>T (p.Glu4200Ter) c.12595G>T (p.Glu4199Ter) c.5982G>T c.12580G>T (p.Glu4194Ter) c.12610G>T (p.Glu4204Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561444A= | CA2335082684 | RYR1 | c.1024A= c.1006A= c.12614A= (p.Glu4205=) c.12599A= (p.Glu4200=) c.12596A= (p.Glu4199=) c.5983A= c.12581A= (p.Glu4194=) c.12611A= (p.Glu4204=) | |
| 19 | g.38561444A>C | CA405669930 | RYR1 | c.1024A>C c.1006A>C c.12614A>C (p.Glu4205Ala) c.12599A>C (p.Glu4200Ala) c.12596A>C (p.Glu4199Ala) c.5983A>C c.12581A>C (p.Glu4194Ala) c.12611A>C (p.Glu4204Ala) | |
| 19 | g.38561444A>G | CA405669934 | RYR1 | c.1024A>G c.1006A>G c.12614A>G (p.Glu4205Gly) c.12599A>G (p.Glu4200Gly) c.12596A>G (p.Glu4199Gly) c.5983A>G c.12581A>G (p.Glu4194Gly) c.12611A>G (p.Glu4204Gly) | gnomAD v4 |
| 19 | g.38561444A>T | CA405669935 | RYR1 | c.1024A>T c.1006A>T c.12614A>T (p.Glu4205Val) c.12599A>T (p.Glu4200Val) c.12596A>T (p.Glu4199Val) c.5983A>T c.12581A>T (p.Glu4194Val) c.12611A>T (p.Glu4204Val) | dbSNP |
| 19 | g.38561445G>A | CA507355444 | RYR1 | c.1025G>A c.1007G>A c.12615G>A (p.Glu4205=) c.12600G>A (p.Glu4200=) c.12597G>A (p.Glu4199=) c.5984G>A c.12582G>A (p.Glu4194=) c.12612G>A (p.Glu4204=) | dbSNP gnomAD v4 |
| 19 | g.38561445G>C | CA405669937 | RYR1 | c.1025G>C c.1007G>C c.12615G>C (p.Glu4205Asp) c.12600G>C (p.Glu4200Asp) c.12597G>C (p.Glu4199Asp) c.5984G>C c.12582G>C (p.Glu4194Asp) c.12612G>C (p.Glu4204Asp) | dbSNP gnomAD v4 |
| 19 | g.38561445G= | CA2335082685 | RYR1 | c.1025G= c.1007G= c.12615G= (p.Glu4205=) c.12600G= (p.Glu4200=) c.12597G= (p.Glu4199=) c.5984G= c.12582G= (p.Glu4194=) c.12612G= (p.Glu4204=) | |
| 19 | g.38561445G>T | CA405669940 | RYR1 | c.1025G>T c.1007G>T c.12615G>T (p.Glu4205Asp) c.12600G>T (p.Glu4200Asp) c.12597G>T (p.Glu4199Asp) c.5984G>T c.12582G>T (p.Glu4194Asp) c.12612G>T (p.Glu4204Asp) | gnomAD v4 |
| 19 | g.38561446A= | CA2335082686 | RYR1 | c.1026A= c.1008A= c.12616A= (p.Met4206=) c.12601A= (p.Met4201=) c.12598A= (p.Met4200=) c.5985A= c.12583A= (p.Met4195=) c.12613A= (p.Met4205=) | |
| 19 | g.38561446A>C | CA405669942 | RYR1 | c.1026A>C c.1008A>C c.12616A>C (p.Met4206Leu) c.12601A>C (p.Met4201Leu) c.12598A>C (p.Met4200Leu) c.5985A>C c.12583A>C (p.Met4195Leu) c.12613A>C (p.Met4205Leu) | |
| 19 | g.38561446A>G | CA405669944 | RYR1 | c.1026A>G c.1008A>G c.12616A>G (p.Met4206Val) c.12601A>G (p.Met4201Val) c.12598A>G (p.Met4200Val) c.5985A>G c.12583A>G (p.Met4195Val) c.12613A>G (p.Met4205Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561446A>T | CA405669946 | RYR1 | c.1026A>T c.1008A>T c.12616A>T (p.Met4206Leu) c.12601A>T (p.Met4201Leu) c.12598A>T (p.Met4200Leu) c.5985A>T c.12583A>T (p.Met4195Leu) c.12613A>T (p.Met4205Leu) | gnomAD v4 |
| 19 | g.38561447T>A | CA405669949 | RYR1 | c.1027T>A c.1009T>A c.12617T>A (p.Met4206Lys) c.12602T>A (p.Met4201Lys) c.12599T>A (p.Met4200Lys) c.5986T>A c.12584T>A (p.Met4195Lys) c.12614T>A (p.Met4205Lys) | |
| 19 | g.38561447T>C | CA405669951 | RYR1 | c.1027T>C c.1009T>C c.12617T>C (p.Met4206Thr) c.12602T>C (p.Met4201Thr) c.12599T>C (p.Met4200Thr) c.5986T>C c.12584T>C (p.Met4195Thr) c.12614T>C (p.Met4205Thr) | |
| 19 | g.38561447T>G | CA405669952 | RYR1 | c.1027T>G c.1009T>G c.12617T>G (p.Met4206Arg) c.12602T>G (p.Met4201Arg) c.12599T>G (p.Met4200Arg) c.5986T>G c.12584T>G (p.Met4195Arg) c.12614T>G (p.Met4205Arg) | |
| 19 | g.38561448G>A | CA405669953 | RYR1 | c.1028G>A c.1010G>A c.12618G>A (p.Met4206Ile) c.12603G>A (p.Met4201Ile) c.12600G>A (p.Met4200Ile) c.5987G>A c.12585G>A (p.Met4195Ile) c.12615G>A (p.Met4205Ile) | |
| 19 | g.38561448G>C | CA405669955 | RYR1 | c.1028G>C c.1010G>C c.12618G>C (p.Met4206Ile) c.12603G>C (p.Met4201Ile) c.12600G>C (p.Met4200Ile) c.5987G>C c.12585G>C (p.Met4195Ile) c.12615G>C (p.Met4205Ile) | |
| 19 | g.38561448G>T | CA405669954 | RYR1 | c.1028G>T c.1010G>T c.12618G>T (p.Met4206Ile) c.12603G>T (p.Met4201Ile) c.12600G>T (p.Met4200Ile) c.5987G>T c.12585G>T (p.Met4195Ile) c.12615G>T (p.Met4205Ile) | gnomAD v4 |
| 19 | g.38561449C>A | CA10648648 | RYR1 | c.1029C>A c.1011C>A c.12619C>A (p.Pro4207Thr) c.12604C>A (p.Pro4202Thr) c.12601C>A (p.Pro4201Thr) c.5988C>A c.12586C>A (p.Pro4196Thr) c.12616C>A (p.Pro4206Thr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561449C= | CA2335082687 | RYR1 | c.1029C= c.1011C= c.12619C= (p.Pro4207=) c.12604C= (p.Pro4202=) c.12601C= (p.Pro4201=) c.5988C= c.12586C= (p.Pro4196=) c.12616C= (p.Pro4206=) | |
| 19 | g.38561449C>G | CA405669959 | RYR1 | c.1029C>G c.1011C>G c.12619C>G (p.Pro4207Ala) c.12604C>G (p.Pro4202Ala) c.12601C>G (p.Pro4201Ala) c.5988C>G c.12586C>G (p.Pro4196Ala) c.12616C>G (p.Pro4206Ala) | |
| 19 | g.38561449C>T | CA405669961 | RYR1 | c.1029C>T c.1011C>T c.12619C>T (p.Pro4207Ser) c.12604C>T (p.Pro4202Ser) c.12601C>T (p.Pro4201Ser) c.5988C>T c.12586C>T (p.Pro4196Ser) c.12616C>T (p.Pro4206Ser) | gnomAD v4 |
| 19 | g.38561450C>A | CA405669965 | RYR1 | c.1030C>A c.1012C>A c.12620C>A (p.Pro4207His) c.12605C>A (p.Pro4202His) c.12602C>A (p.Pro4201His) c.5989C>A c.12587C>A (p.Pro4196His) c.12617C>A (p.Pro4206His) | |
| 19 | g.38561450C>G | CA405669972 | RYR1 | c.1030C>G c.1012C>G c.12620C>G (p.Pro4207Arg) c.12605C>G (p.Pro4202Arg) c.12602C>G (p.Pro4201Arg) c.5989C>G c.12587C>G (p.Pro4196Arg) c.12617C>G (p.Pro4206Arg) | |
| 19 | g.38561450C>T | CA405669974 | RYR1 | c.1030C>T c.1012C>T c.12620C>T (p.Pro4207Leu) c.12605C>T (p.Pro4202Leu) c.12602C>T (p.Pro4201Leu) c.5989C>T c.12587C>T (p.Pro4196Leu) c.12617C>T (p.Pro4206Leu) | gnomAD v4 |
| 19 | g.38561451C>A | CA059157 | RYR1 | c.1031C>A c.1013C>A c.12621C>A (p.Pro4207=) c.12606C>A (p.Pro4202=) c.12603C>A (p.Pro4201=) c.5990C>A c.12588C>A (p.Pro4196=) c.12618C>A (p.Pro4206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561451C= | CA2335082688 | RYR1 | c.1031C= c.1013C= c.12621C= (p.Pro4207=) c.12606C= (p.Pro4202=) c.12603C= (p.Pro4201=) c.5990C= c.12588C= (p.Pro4196=) c.12618C= (p.Pro4206=) | |
| 19 | g.38561451C>G | CA059165 | RYR1 | c.1031C>G c.1013C>G c.12621C>G (p.Pro4207=) c.12606C>G (p.Pro4202=) c.12603C>G (p.Pro4201=) c.5990C>G c.12588C>G (p.Pro4196=) c.12618C>G (p.Pro4206=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561451C>T | CA507355449 | RYR1 | c.1031C>T c.1013C>T c.12621C>T (p.Pro4207=) c.12606C>T (p.Pro4202=) c.12603C>T (p.Pro4201=) c.5990C>T c.12588C>T (p.Pro4196=) c.12618C>T (p.Pro4206=) | dbSNP |
| 19 | g.38561452C>A | CA405669979 | RYR1 | c.1032C>A c.1014C>A c.12622C>A (p.Gln4208Lys) c.12607C>A (p.Gln4203Lys) c.12604C>A (p.Gln4202Lys) c.5991C>A c.12589C>A (p.Gln4197Lys) c.12619C>A (p.Gln4207Lys) | gnomAD v4 |
| 19 | g.38561452C>G | CA405669982 | RYR1 | c.1032C>G c.1014C>G c.12622C>G (p.Gln4208Glu) c.12607C>G (p.Gln4203Glu) c.12604C>G (p.Gln4202Glu) c.5991C>G c.12589C>G (p.Gln4197Glu) c.12619C>G (p.Gln4207Glu) | ClinVar |
| 19 | g.38561452C>T | CA405669984 | RYR1 | c.1032C>T c.1014C>T c.12622C>T (p.Gln4208Ter) c.12607C>T (p.Gln4203Ter) c.12604C>T (p.Gln4202Ter) c.5991C>T c.12589C>T (p.Gln4197Ter) c.12619C>T (p.Gln4207Ter) | |
| 19 | g.38561453A>C | CA405669988 | RYR1 | c.1033A>C c.1015A>C c.12623A>C (p.Gln4208Pro) c.12608A>C (p.Gln4203Pro) c.12605A>C (p.Gln4202Pro) c.5992A>C c.12590A>C (p.Gln4197Pro) c.12620A>C (p.Gln4207Pro) | |
| 19 | g.38561453A>G | CA405669989 | RYR1 | c.1033A>G c.1015A>G c.12623A>G (p.Gln4208Arg) c.12608A>G (p.Gln4203Arg) c.12605A>G (p.Gln4202Arg) c.5992A>G c.12590A>G (p.Gln4197Arg) c.12620A>G (p.Gln4207Arg) | gnomAD v4 |
| 19 | g.38561453A>T | CA405669987 | RYR1 | c.1033A>T c.1015A>T c.12623A>T (p.Gln4208Leu) c.12608A>T (p.Gln4203Leu) c.12605A>T (p.Gln4202Leu) c.5992A>T c.12590A>T (p.Gln4197Leu) c.12620A>T (p.Gln4207Leu) | |
| 19 | g.38561454G>A | CA507355453 | RYR1 | c.1034G>A c.1016G>A c.12624G>A (p.Gln4208=) c.12609G>A (p.Gln4203=) c.12606G>A (p.Gln4202=) c.5993G>A c.12591G>A (p.Gln4197=) c.12621G>A (p.Gln4207=) | gnomAD v4 |
| 19 | g.38561454G>C | CA405669991 | RYR1 | c.1034G>C c.1016G>C c.12624G>C (p.Gln4208His) c.12609G>C (p.Gln4203His) c.12606G>C (p.Gln4202His) c.5993G>C c.12591G>C (p.Gln4197His) c.12621G>C (p.Gln4207His) | |
| 19 | g.38561454G>T | CA405669994 | RYR1 | c.1034G>T c.1016G>T c.12624G>T (p.Gln4208His) c.12609G>T (p.Gln4203His) c.12606G>T (p.Gln4202His) c.5993G>T c.12591G>T (p.Gln4197His) c.12621G>T (p.Gln4207His) | gnomAD v4 |
| 19 | g.38561455G>A | CA405669996 | RYR1 | c.1034+1G>A c.1016+1G>A c.12624+1G>A (n.12624+1G>A) c.12609+1G>A (n.12609+1G>A) c.12606+1G>A (n.12606+1G>A) c.5993+1G>A c.12591+1G>A (n.12591+1G>A) c.12621+1G>A (n.12621+1G>A) | ClinVar |
| 19 | g.38561455G>C | CA059199 | RYR1 | c.1034+1G>C c.1016+1G>C c.12624+1G>C (n.12624+1G>C) c.12609+1G>C (n.12609+1G>C) c.12606+1G>C (n.12606+1G>C) c.5993+1G>C c.12591+1G>C (n.12591+1G>C) c.12621+1G>C (n.12621+1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561455G= | CA2335082689 | RYR1 | c.1034+1G= c.1016+1G= c.12624+1G= (n.12624+1G=) c.12609+1G= (n.12609+1G=) c.12606+1G= (n.12606+1G=) c.5993+1G= c.12591+1G= (n.12591+1G=) c.12621+1G= (n.12621+1G=) | |
| 19 | g.38561455G>T | CA405669997 | RYR1 | c.1034+1G>T c.1016+1G>T c.12624+1G>T (n.12624+1G>T) c.12609+1G>T (n.12609+1G>T) c.12606+1G>T (n.12606+1G>T) c.5993+1G>T c.12591+1G>T (n.12591+1G>T) c.12621+1G>T (n.12621+1G>T) | gnomAD v4 |