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 |
|---|---|---|---|---|---|
| X | g.19350111_19351408dup | CA913191131 | PDHA1 | c.291+1_439+1dup c.291+1_418+1dup c.375+1_502+1dup c.405+1_532+1dup n.393+1_521dup c.405+1_553+1dup | ClinVar |
| X | g.19351300T>A | CA412390920 | PDHA1 | c.332T>A (p.Leu111Gln) c.311T>A (p.Leu104Gln) c.395T>A (p.Leu132Gln) c.425T>A (p.Leu142Gln) n.413T>A c.446T>A (p.Leu149Gln) | |
| X | g.19351300T>C | CA302973 | PDHA1 | c.332T>C (p.Leu111Pro) c.311T>C (p.Leu104Pro) c.395T>C (p.Leu132Pro) c.425T>C (p.Leu142Pro) n.413T>C c.446T>C (p.Leu149Pro) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.19351300T>G | CA412390922 | PDHA1 | c.332T>G (p.Leu111Arg) c.311T>G (p.Leu104Arg) c.395T>G (p.Leu132Arg) c.425T>G (p.Leu142Arg) n.413T>G c.446T>G (p.Leu149Arg) | |
| X | g.19351300T= | CA2418222101 | PDHA1 | c.332T= (p.Leu111=) c.311T= (p.Leu104=) c.395T= (p.Leu132=) c.425T= (p.Leu142=) n.413T= c.446T= (p.Leu149=) | |
| X | g.19351301G>A | CA515485516 | PDHA1 | c.333G>A (p.Leu111=) c.312G>A (p.Leu104=) c.396G>A (p.Leu132=) c.426G>A (p.Leu142=) n.414G>A c.447G>A (p.Leu149=) | gnomAD v4 |
| X | g.19351301G>C | CA515485515 | PDHA1 | c.333G>C (p.Leu111=) c.312G>C (p.Leu104=) c.396G>C (p.Leu132=) c.426G>C (p.Leu142=) n.414G>C c.447G>C (p.Leu149=) | |
| X | g.19351301G>T | CA515485514 | PDHA1 | c.333G>T (p.Leu111=) c.312G>T (p.Leu104=) c.396G>T (p.Leu132=) c.426G>T (p.Leu142=) n.414G>T c.447G>T (p.Leu149=) | |
| X | g.19351302G>A | CA412390925 | PDHA1 | c.334G>A (p.Glu112Lys) c.313G>A (p.Glu105Lys) c.397G>A (p.Glu133Lys) c.427G>A (p.Glu143Lys) n.415G>A c.448G>A (p.Glu150Lys) | |
| X | g.19351302G>C | CA412390927 | PDHA1 | c.334G>C (p.Glu112Gln) c.313G>C (p.Glu105Gln) c.397G>C (p.Glu133Gln) c.427G>C (p.Glu143Gln) n.415G>C c.448G>C (p.Glu150Gln) | |
| X | g.19351302G>T | CA412390929 | PDHA1 | c.334G>T (p.Glu112Ter) c.313G>T (p.Glu105Ter) c.397G>T (p.Glu133Ter) c.427G>T (p.Glu143Ter) n.415G>T c.448G>T (p.Glu150Ter) | |
| X | g.19351303A>C | CA412390932 | PDHA1 | c.335A>C (p.Glu112Ala) c.314A>C (p.Glu105Ala) c.398A>C (p.Glu133Ala) c.428A>C (p.Glu143Ala) n.416A>C c.449A>C (p.Glu150Ala) | |
| X | g.19351303A>G | CA412390934 | PDHA1 | c.335A>G (p.Glu112Gly) c.314A>G (p.Glu105Gly) c.398A>G (p.Glu133Gly) c.428A>G (p.Glu143Gly) n.416A>G c.449A>G (p.Glu150Gly) | |
| X | g.19351303A>T | CA412390935 | PDHA1 | c.335A>T (p.Glu112Val) c.314A>T (p.Glu105Val) c.398A>T (p.Glu133Val) c.428A>T (p.Glu143Val) n.416A>T c.449A>T (p.Glu150Val) | |
| X | g.19351304G>A | CA515485517 | PDHA1 | c.336G>A (p.Glu112=) c.315G>A (p.Glu105=) c.399G>A (p.Glu133=) c.429G>A (p.Glu143=) n.417G>A c.450G>A (p.Glu150=) | |
| X | g.19351304G>C | CA412390938 | PDHA1 | c.336G>C (p.Glu112Asp) c.315G>C (p.Glu105Asp) c.399G>C (p.Glu133Asp) c.429G>C (p.Glu143Asp) n.417G>C c.450G>C (p.Glu150Asp) | |
| X | g.19351304G>T | CA412390940 | PDHA1 | c.336G>T (p.Glu112Asp) c.315G>T (p.Glu105Asp) c.399G>T (p.Glu133Asp) c.429G>T (p.Glu143Asp) n.417G>T c.450G>T (p.Glu150Asp) | |
| X | g.19351305G>A | CA412390942 | PDHA1 | c.337G>A (p.Ala113Thr) c.316G>A (p.Ala106Thr) c.400G>A (p.Ala134Thr) c.430G>A (p.Ala144Thr) n.418G>A c.451G>A (p.Ala151Thr) | gnomAD v4 |
| X | g.19351305G>C | CA412390945 | PDHA1 | c.337G>C (p.Ala113Pro) c.316G>C (p.Ala106Pro) c.400G>C (p.Ala134Pro) c.430G>C (p.Ala144Pro) n.418G>C c.451G>C (p.Ala151Pro) | |
| X | g.19351305G>T | CA412390944 | PDHA1 | c.337G>T (p.Ala113Ser) c.316G>T (p.Ala106Ser) c.400G>T (p.Ala134Ser) c.430G>T (p.Ala144Ser) n.418G>T c.451G>T (p.Ala151Ser) | |
| X | g.19351306C>A | CA412390948 | PDHA1 | c.338C>A (p.Ala113Asp) c.317C>A (p.Ala106Asp) c.401C>A (p.Ala134Asp) c.431C>A (p.Ala144Asp) n.419C>A c.452C>A (p.Ala151Asp) | |
| X | g.19351306C>G | CA412390950 | PDHA1 | c.338C>G (p.Ala113Gly) c.317C>G (p.Ala106Gly) c.401C>G (p.Ala134Gly) c.431C>G (p.Ala144Gly) n.419C>G c.452C>G (p.Ala151Gly) | |
| X | g.19351306C>T | CA412390951 | PDHA1 | c.338C>T (p.Ala113Val) c.317C>T (p.Ala106Val) c.401C>T (p.Ala134Val) c.431C>T (p.Ala144Val) n.419C>T c.452C>T (p.Ala151Val) | gnomAD v4 |
| X | g.19351307C>A | CA515485518 | PDHA1 | c.339C>A (p.Ala113=) c.318C>A (p.Ala106=) c.402C>A (p.Ala134=) c.432C>A (p.Ala144=) n.420C>A c.453C>A (p.Ala151=) | |
| X | g.19351307C= | CA2418222102 | PDHA1 | c.339C= (p.Ala113=) c.318C= (p.Ala106=) c.402C= (p.Ala134=) c.432C= (p.Ala144=) n.420C= c.453C= (p.Ala151=) | |
| X | g.19351307C>G | CA515485519 | PDHA1 | c.339C>G (p.Ala113=) c.318C>G (p.Ala106=) c.402C>G (p.Ala134=) c.432C>G (p.Ala144=) n.420C>G c.453C>G (p.Ala151=) | gnomAD v4 |
| X | g.19351307C>T | CA327024456 | PDHA1 | c.339C>T (p.Ala113=) c.318C>T (p.Ala106=) c.402C>T (p.Ala134=) c.432C>T (p.Ala144=) n.420C>T c.453C>T (p.Ala151=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351308G>A | CA10363023 | PDHA1 | c.340G>A (p.Gly114Ser) c.319G>A (p.Gly107Ser) c.403G>A (p.Gly135Ser) c.433G>A (p.Gly145Ser) n.421G>A c.454G>A (p.Gly152Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351308G>C | CA412390957 | PDHA1 | c.340G>C (p.Gly114Arg) c.319G>C (p.Gly107Arg) c.403G>C (p.Gly135Arg) c.433G>C (p.Gly145Arg) n.421G>C c.454G>C (p.Gly152Arg) | |
| X | g.19351308G= | CA2418222103 | PDHA1 | c.340G= (p.Gly114=) c.319G= (p.Gly107=) c.403G= (p.Gly135=) c.433G= (p.Gly145=) n.421G= c.454G= (p.Gly152=) | |
| X | g.19351308G>T | CA412390959 | PDHA1 | c.340G>T (p.Gly114Cys) c.319G>T (p.Gly107Cys) c.403G>T (p.Gly135Cys) c.433G>T (p.Gly145Cys) n.421G>T c.454G>T (p.Gly152Cys) | |
| X | g.19351309G>A | CA327024475 | PDHA1 | c.341G>A (p.Gly114Asp) c.320G>A (p.Gly107Asp) c.404G>A (p.Gly135Asp) c.434G>A (p.Gly145Asp) n.422G>A c.455G>A (p.Gly152Asp) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19351309G>C | CA412390962 | PDHA1 | c.341G>C (p.Gly114Ala) c.320G>C (p.Gly107Ala) c.404G>C (p.Gly135Ala) c.434G>C (p.Gly145Ala) n.422G>C c.455G>C (p.Gly152Ala) | |
| X | g.19351309G= | CA2418222104 | PDHA1 | c.341G= (p.Gly114=) c.320G= (p.Gly107=) c.404G= (p.Gly135=) c.434G= (p.Gly145=) n.422G= c.455G= (p.Gly152=) | |
| X | g.19351309G>T | CA412390964 | PDHA1 | c.341G>T (p.Gly114Val) c.320G>T (p.Gly107Val) c.404G>T (p.Gly135Val) c.434G>T (p.Gly145Val) n.422G>T c.455G>T (p.Gly152Val) | |
| X | g.19351310C>A | CA515485520 | PDHA1 | c.342C>A (p.Gly114=) c.321C>A (p.Gly107=) c.405C>A (p.Gly135=) c.435C>A (p.Gly145=) n.423C>A c.456C>A (p.Gly152=) | |
| X | g.19351310C>G | CA515485521 | PDHA1 | c.342C>G (p.Gly114=) c.321C>G (p.Gly107=) c.405C>G (p.Gly135=) c.435C>G (p.Gly145=) n.423C>G c.456C>G (p.Gly152=) | |
| X | g.19351310C>T | CA515485522 | PDHA1 | c.342C>T (p.Gly114=) c.321C>T (p.Gly107=) c.405C>T (p.Gly135=) c.435C>T (p.Gly145=) n.423C>T c.456C>T (p.Gly152=) | ClinVar |
| X | g.19351311A>C | CA412390969 | PDHA1 | c.343A>C (p.Ile115Leu) c.322A>C (p.Ile108Leu) c.406A>C (p.Ile136Leu) c.436A>C (p.Ile146Leu) n.424A>C c.457A>C (p.Ile153Leu) | |
| X | g.19351311A>G | CA412390968 | PDHA1 | c.343A>G (p.Ile115Val) c.322A>G (p.Ile108Val) c.406A>G (p.Ile136Val) c.436A>G (p.Ile146Val) n.424A>G c.457A>G (p.Ile153Val) | |
| X | g.19351311A>T | CA412390966 | PDHA1 | c.343A>T (p.Ile115Phe) c.322A>T (p.Ile108Phe) c.406A>T (p.Ile136Phe) c.436A>T (p.Ile146Phe) n.424A>T c.457A>T (p.Ile153Phe) | |
| X | g.19351312T>A | CA412390972 | PDHA1 | c.344T>A (p.Ile115Asn) c.323T>A (p.Ile108Asn) c.407T>A (p.Ile136Asn) c.437T>A (p.Ile146Asn) n.425T>A c.458T>A (p.Ile153Asn) | |
| X | g.19351312T>C | CA412390970 | PDHA1 | c.344T>C (p.Ile115Thr) c.323T>C (p.Ile108Thr) c.407T>C (p.Ile136Thr) c.437T>C (p.Ile146Thr) n.425T>C c.458T>C (p.Ile153Thr) | |
| X | g.19351312T>G | CA412390971 | PDHA1 | c.344T>G (p.Ile115Ser) c.323T>G (p.Ile108Ser) c.407T>G (p.Ile136Ser) c.437T>G (p.Ile146Ser) n.425T>G c.458T>G (p.Ile153Ser) | |
| X | g.19351313C>A | CA515485523 | PDHA1 | c.345C>A (p.Ile115=) c.324C>A (p.Ile108=) c.408C>A (p.Ile136=) c.438C>A (p.Ile146=) n.426C>A c.459C>A (p.Ile153=) | |
| X | g.19351313C= | CA2418222105 | PDHA1 | c.345C= (p.Ile115=) c.324C= (p.Ile108=) c.408C= (p.Ile136=) c.438C= (p.Ile146=) n.426C= c.459C= (p.Ile153=) | |
| X | g.19351313C>G | CA412390973 | PDHA1 | c.345C>G (p.Ile115Met) c.324C>G (p.Ile108Met) c.408C>G (p.Ile136Met) c.438C>G (p.Ile146Met) n.426C>G c.459C>G (p.Ile153Met) | |
| X | g.19351313C>T | CA327024477 | PDHA1 | c.345C>T (p.Ile115=) c.324C>T (p.Ile108=) c.408C>T (p.Ile136=) c.438C>T (p.Ile146=) n.426C>T c.459C>T (p.Ile153=) | dbSNP gnomAD v4 |
| X | g.19351314A>C | CA412390974 | PDHA1 | c.346A>C (p.Asn116His) c.325A>C (p.Asn109His) c.409A>C (p.Asn137His) c.439A>C (p.Asn147His) n.427A>C c.460A>C (p.Asn154His) | |
| X | g.19351314A>G | CA412390975 | PDHA1 | c.346A>G (p.Asn116Asp) c.325A>G (p.Asn109Asp) c.409A>G (p.Asn137Asp) c.439A>G (p.Asn147Asp) n.427A>G c.460A>G (p.Asn154Asp) |