UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.19351299del | CA2579566222 | PDHA1 | c.331del (p.Leu111TrpfsTer?) c.310del (p.Leu104TrpfsTer?) c.394del (p.Leu132TrpfsTer?) c.424del (p.Leu142TrpfsTer?) n.412del c.445del (p.Leu149TrpfsTer?) | |
| X | g.19351299C>A | CA412390916 | PDHA1 | c.331C>A (p.Leu111Met) c.310C>A (p.Leu104Met) c.394C>A (p.Leu132Met) c.424C>A (p.Leu142Met) n.412C>A c.445C>A (p.Leu149Met) | |
| X | g.19351299C= | CA2418222100 | PDHA1 | c.331C= (p.Leu111=) c.310C= (p.Leu104=) c.394C= (p.Leu132=) c.424C= (p.Leu142=) n.412C= c.445C= (p.Leu149=) | |
| X | g.19351299C>G | CA412390918 | PDHA1 | c.331C>G (p.Leu111Val) c.310C>G (p.Leu104Val) c.394C>G (p.Leu132Val) c.424C>G (p.Leu142Val) n.412C>G c.445C>G (p.Leu149Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351299C>T | CA515485513 | PDHA1 | c.331C>T (p.Leu111=) c.310C>T (p.Leu104=) c.394C>T (p.Leu132=) c.424C>T (p.Leu142=) n.412C>T c.445C>T (p.Leu149=) | |
| 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) | |
| X | g.19351314A>T | CA412390976 | PDHA1 | c.346A>T (p.Asn116Tyr) c.325A>T (p.Asn109Tyr) c.409A>T (p.Asn137Tyr) c.439A>T (p.Asn147Tyr) n.427A>T c.460A>T (p.Asn154Tyr) | |
| X | g.19351315A>C | CA412390977 | PDHA1 | c.347A>C (p.Asn116Thr) c.326A>C (p.Asn109Thr) c.410A>C (p.Asn137Thr) c.440A>C (p.Asn147Thr) n.428A>C c.461A>C (p.Asn154Thr) | |
| X | g.19351315A>G | CA412390978 | PDHA1 | c.347A>G (p.Asn116Ser) c.326A>G (p.Asn109Ser) c.410A>G (p.Asn137Ser) c.440A>G (p.Asn147Ser) n.428A>G c.461A>G (p.Asn154Ser) | |
| X | g.19351315A>T | CA412390979 | PDHA1 | c.347A>T (p.Asn116Ile) c.326A>T (p.Asn109Ile) c.410A>T (p.Asn137Ile) c.440A>T (p.Asn147Ile) n.428A>T c.461A>T (p.Asn154Ile) | |
| X | g.19351316C>A | CA412390980 | PDHA1 | c.348C>A (p.Asn116Lys) c.327C>A (p.Asn109Lys) c.411C>A (p.Asn137Lys) c.441C>A (p.Asn147Lys) n.429C>A c.462C>A (p.Asn154Lys) | |
| X | g.19351316C= | CA2418222106 | PDHA1 | c.348C= (p.Asn116=) c.327C= (p.Asn109=) c.411C= (p.Asn137=) c.441C= (p.Asn147=) n.429C= c.462C= (p.Asn154=) | |
| X | g.19351316C>G | CA412390981 | PDHA1 | c.348C>G (p.Asn116Lys) c.327C>G (p.Asn109Lys) c.411C>G (p.Asn137Lys) c.441C>G (p.Asn147Lys) n.429C>G c.462C>G (p.Asn154Lys) | |
| X | g.19351316C>T | CA10363024 | PDHA1 | c.348C>T (p.Asn116=) c.327C>T (p.Asn109=) c.411C>T (p.Asn137=) c.441C>T (p.Asn147=) n.429C>T c.462C>T (p.Asn154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351316_19351317insAGA | CA658794193 | PDHA1 | c.348_349insAGA (p.Asn116_Pro117insArg) c.327_328insAGA (p.Asn109_Pro110insArg) c.411_412insAGA (p.Asn137_Pro138insArg) c.441_442insAGA (p.Asn147_Pro148insArg) n.429_430insAGA c.462_463insAGA (p.Asn154_Pro155insArg) | |
| X | g.19351317C>A | CA412390984 | PDHA1 | c.349C>A (p.Pro117Thr) c.328C>A (p.Pro110Thr) c.412C>A (p.Pro138Thr) c.442C>A (p.Pro148Thr) n.430C>A c.463C>A (p.Pro155Thr) | |
| X | g.19351317C>G | CA412390982 | PDHA1 | c.349C>G (p.Pro117Ala) c.328C>G (p.Pro110Ala) c.412C>G (p.Pro138Ala) c.442C>G (p.Pro148Ala) n.430C>G c.463C>G (p.Pro155Ala) | ClinVar gnomAD v4 |
| X | g.19351317C>T | CA412390983 | PDHA1 | c.349C>T (p.Pro117Ser) c.328C>T (p.Pro110Ser) c.412C>T (p.Pro138Ser) c.442C>T (p.Pro148Ser) n.430C>T c.463C>T (p.Pro155Ser) | gnomAD v4 |
| X | g.19351317delinsAGA | CA2695223229 | PDHA1 | c.349delinsAGA (p.Pro117ArgfsTer?) c.328delinsAGA (p.Pro110ArgfsTer?) c.412delinsAGA (p.Pro138ArgfsTer?) c.442delinsAGA (p.Pro148ArgfsTer?) n.430delinsAGA c.463delinsAGA (p.Pro155ArgfsTer?) | |
| X | g.19351318C>A | CA412390985 | PDHA1 | c.350C>A (p.Pro117His) c.329C>A (p.Pro110His) c.413C>A (p.Pro138His) c.443C>A (p.Pro148His) n.431C>A c.464C>A (p.Pro155His) | |
| X | g.19351318C>G | CA412390986 | PDHA1 | c.350C>G (p.Pro117Arg) c.329C>G (p.Pro110Arg) c.413C>G (p.Pro138Arg) c.443C>G (p.Pro148Arg) n.431C>G c.464C>G (p.Pro155Arg) | |
| X | g.19351318C>T | CA412390987 | PDHA1 | c.350C>T (p.Pro117Leu) c.329C>T (p.Pro110Leu) c.413C>T (p.Pro138Leu) c.443C>T (p.Pro148Leu) n.431C>T c.464C>T (p.Pro155Leu) | |
| X | g.19351319C>A | CA515485524 | PDHA1 | c.351C>A (p.Pro117=) c.330C>A (p.Pro110=) c.414C>A (p.Pro138=) c.444C>A (p.Pro148=) n.432C>A c.465C>A (p.Pro155=) | |
| X | g.19351319C>G | CA515485525 | PDHA1 | c.351C>G (p.Pro117=) c.330C>G (p.Pro110=) c.414C>G (p.Pro138=) c.444C>G (p.Pro148=) n.432C>G c.465C>G (p.Pro155=) | |
| X | g.19351319C>T | CA515485526 | PDHA1 | c.351C>T (p.Pro117=) c.330C>T (p.Pro110=) c.414C>T (p.Pro138=) c.444C>T (p.Pro148=) n.432C>T c.465C>T (p.Pro155=) | ClinVar dbSNP |
| X | g.19351324_19351338del | CA2580100428 | PDHA1 | c.356_370del (p.Asp119_Thr123del) c.335_349del (p.Asp112_Thr116del) c.419_433del (p.Asp140_Thr144del) c.449_463del (p.Asp150_Thr154del) n.437_451del c.470_484del (p.Asp157_Thr161del) | ClinVar |
| X | g.19351320A>C | CA412390988 | PDHA1 | c.352A>C (p.Thr118Pro) c.331A>C (p.Thr111Pro) c.415A>C (p.Thr139Pro) c.445A>C (p.Thr149Pro) n.433A>C c.466A>C (p.Thr156Pro) | |
| X | g.19351320A>G | CA412390990 | PDHA1 | c.352A>G (p.Thr118Ala) c.331A>G (p.Thr111Ala) c.415A>G (p.Thr139Ala) c.445A>G (p.Thr149Ala) n.433A>G c.466A>G (p.Thr156Ala) | |
| X | g.19351320A>T | CA412390993 | PDHA1 | c.352A>T (p.Thr118Ser) c.331A>T (p.Thr111Ser) c.415A>T (p.Thr139Ser) c.445A>T (p.Thr149Ser) n.433A>T c.466A>T (p.Thr156Ser) | |
| X | g.19351321C>A | CA412390995 | PDHA1 | c.353C>A (p.Thr118Lys) c.332C>A (p.Thr111Lys) c.416C>A (p.Thr139Lys) c.446C>A (p.Thr149Lys) n.434C>A c.467C>A (p.Thr156Lys) | |
| X | g.19351321C>G | CA412390997 | PDHA1 | c.353C>G (p.Thr118Arg) c.332C>G (p.Thr111Arg) c.416C>G (p.Thr139Arg) c.446C>G (p.Thr149Arg) n.434C>G c.467C>G (p.Thr156Arg) | gnomAD v4 |
| X | g.19351321C>T | CA412390999 | PDHA1 | c.353C>T (p.Thr118Ile) c.332C>T (p.Thr111Ile) c.416C>T (p.Thr139Ile) c.446C>T (p.Thr149Ile) n.434C>T c.467C>T (p.Thr156Ile) | |
| X | g.19351322A= | CA2418222107 | PDHA1 | c.354A= (p.Thr118=) c.333A= (p.Thr111=) c.417A= (p.Thr139=) c.447A= (p.Thr149=) n.435A= c.468A= (p.Thr156=) | |
| X | g.19351322A>C | CA515485529 | PDHA1 | c.354A>C (p.Thr118=) c.333A>C (p.Thr111=) c.417A>C (p.Thr139=) c.447A>C (p.Thr149=) n.435A>C c.468A>C (p.Thr156=) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19351322A>G | CA515485527 | PDHA1 | c.354A>G (p.Thr118=) c.333A>G (p.Thr111=) c.417A>G (p.Thr139=) c.447A>G (p.Thr149=) n.435A>G c.468A>G (p.Thr156=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351322A>T | CA515485528 | PDHA1 | c.354A>T (p.Thr118=) c.333A>T (p.Thr111=) c.417A>T (p.Thr139=) c.447A>T (p.Thr149=) n.435A>T c.468A>T (p.Thr156=) | |
| X | g.19351323G>A | CA412391001 | PDHA1 | c.355G>A (p.Asp119Asn) c.334G>A (p.Asp112Asn) c.418G>A (p.Asp140Asn) c.448G>A (p.Asp150Asn) n.436G>A c.469G>A (p.Asp157Asn) | |
| X | g.19351323G>C | CA412391003 | PDHA1 | c.355G>C (p.Asp119His) c.334G>C (p.Asp112His) c.418G>C (p.Asp140His) c.448G>C (p.Asp150His) n.436G>C c.469G>C (p.Asp157His) | |
| X | g.19351323G>T | CA412391005 | PDHA1 | c.355G>T (p.Asp119Tyr) c.334G>T (p.Asp112Tyr) c.418G>T (p.Asp140Tyr) c.448G>T (p.Asp150Tyr) n.436G>T c.469G>T (p.Asp157Tyr) | |
| X | g.19351324A>C | CA412391008 | PDHA1 | c.356A>C (p.Asp119Ala) c.335A>C (p.Asp112Ala) c.419A>C (p.Asp140Ala) c.449A>C (p.Asp150Ala) n.437A>C c.470A>C (p.Asp157Ala) | |
| X | g.19351324A>G | CA412391010 | PDHA1 | c.356A>G (p.Asp119Gly) c.335A>G (p.Asp112Gly) c.419A>G (p.Asp140Gly) c.449A>G (p.Asp150Gly) n.437A>G c.470A>G (p.Asp157Gly) | |
| X | g.19351324A>T | CA412391006 | PDHA1 | c.356A>T (p.Asp119Val) c.335A>T (p.Asp112Val) c.419A>T (p.Asp140Val) c.449A>T (p.Asp150Val) n.437A>T c.470A>T (p.Asp157Val) | |
| X | g.19351325C>A | CA412391012 | PDHA1 | c.357C>A (p.Asp119Glu) c.336C>A (p.Asp112Glu) c.420C>A (p.Asp140Glu) c.450C>A (p.Asp150Glu) n.438C>A c.471C>A (p.Asp157Glu) | |
| X | g.19351325C= | CA2418222108 | PDHA1 | c.357C= (p.Asp119=) c.336C= (p.Asp112=) c.420C= (p.Asp140=) c.450C= (p.Asp150=) n.438C= c.471C= (p.Asp157=) | |
| X | g.19351325C>G | CA412391013 | PDHA1 | c.357C>G (p.Asp119Glu) c.336C>G (p.Asp112Glu) c.420C>G (p.Asp140Glu) c.450C>G (p.Asp150Glu) n.438C>G c.471C>G (p.Asp157Glu) | |
| X | g.19351325C>T | CA515485530 | PDHA1 | c.357C>T (p.Asp119=) c.336C>T (p.Asp112=) c.420C>T (p.Asp140=) c.450C>T (p.Asp150=) n.438C>T c.471C>T (p.Asp157=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.19351326C>A | CA412391016 | PDHA1 | c.358C>A (p.His120Asn) c.337C>A (p.His113Asn) c.421C>A (p.His141Asn) c.451C>A (p.His151Asn) n.439C>A c.472C>A (p.His158Asn) | |
| X | g.19351326C= | CA2418222109 | PDHA1 | c.358C= (p.His120=) c.337C= (p.His113=) c.421C= (p.His141=) c.451C= (p.His151=) n.439C= c.472C= (p.His158=) | |
| X | g.19351326C>G | CA412391018 | PDHA1 | c.358C>G (p.His120Asp) c.337C>G (p.His113Asp) c.421C>G (p.His141Asp) c.451C>G (p.His151Asp) n.439C>G c.472C>G (p.His158Asp) | |
| X | g.19351326C>T | CA327024480 | PDHA1 | c.358C>T (p.His120Tyr) c.337C>T (p.His113Tyr) c.421C>T (p.His141Tyr) c.451C>T (p.His151Tyr) n.439C>T c.472C>T (p.His158Tyr) | dbSNP |
| X | g.19351330_19351334del | CA2579566223 | PDHA1 | c.362_366del (p.Leu121HisfsTer?) c.341_345del (p.Leu114HisfsTer?) c.425_429del (p.Leu142HisfsTer?) c.455_459del (p.Leu152HisfsTer?) n.443_447del c.476_480del (p.Leu159HisfsTer?) | |
| X | g.19351327A= | CA2418222110 | PDHA1 | c.359A= (p.His120=) c.338A= (p.His113=) c.422A= (p.His141=) c.452A= (p.His151=) n.440A= c.473A= (p.His158=) | |
| X | g.19351327A>C | CA412391022 | PDHA1 | c.359A>C (p.His120Pro) c.338A>C (p.His113Pro) c.422A>C (p.His141Pro) c.452A>C (p.His151Pro) n.440A>C c.473A>C (p.His158Pro) | |
| X | g.19351327A>G | CA10363025 | PDHA1 | c.359A>G (p.His120Arg) c.338A>G (p.His113Arg) c.422A>G (p.His141Arg) c.452A>G (p.His151Arg) n.440A>G c.473A>G (p.His158Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19351327A>T | CA412391025 | PDHA1 | c.359A>T (p.His120Leu) c.338A>T (p.His113Leu) c.422A>T (p.His141Leu) c.452A>T (p.His151Leu) n.440A>T c.473A>T (p.His158Leu) | |
| X | g.19351328T>A | CA412391027 | PDHA1 | c.360T>A (p.His120Gln) c.339T>A (p.His113Gln) c.423T>A (p.His141Gln) c.453T>A (p.His151Gln) n.441T>A c.474T>A (p.His158Gln) | |
| X | g.19351328T>C | CA515485531 | PDHA1 | c.360T>C (p.His120=) c.339T>C (p.His113=) c.423T>C (p.His141=) c.453T>C (p.His151=) n.441T>C c.474T>C (p.His158=) | gnomAD v4 |
| X | g.19351328T>G | CA412391028 | PDHA1 | c.360T>G (p.His120Gln) c.339T>G (p.His113Gln) c.423T>G (p.His141Gln) c.453T>G (p.His151Gln) n.441T>G c.474T>G (p.His158Gln) | |
| X | g.19351329C>A | CA412391032 | PDHA1 | c.361C>A (p.Leu121Ile) c.340C>A (p.Leu114Ile) c.424C>A (p.Leu142Ile) c.454C>A (p.Leu152Ile) n.442C>A c.475C>A (p.Leu159Ile) | |
| X | g.19351329C>G | CA412391033 | PDHA1 | c.361C>G (p.Leu121Val) c.340C>G (p.Leu114Val) c.424C>G (p.Leu142Val) c.454C>G (p.Leu152Val) n.442C>G c.475C>G (p.Leu159Val) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19351329C>T | CA412391034 | PDHA1 | c.361C>T (p.Leu121Phe) c.340C>T (p.Leu114Phe) c.424C>T (p.Leu142Phe) c.454C>T (p.Leu152Phe) n.442C>T c.475C>T (p.Leu159Phe) | |
| X | g.19351330T>A | CA412391040 | PDHA1 | c.362T>A (p.Leu121His) c.341T>A (p.Leu114His) c.425T>A (p.Leu142His) c.455T>A (p.Leu152His) n.443T>A c.476T>A (p.Leu159His) | |
| X | g.19351330T>C | CA412391039 | PDHA1 | c.362T>C (p.Leu121Pro) c.341T>C (p.Leu114Pro) c.425T>C (p.Leu142Pro) c.455T>C (p.Leu152Pro) n.443T>C c.476T>C (p.Leu159Pro) | |
| X | g.19351330T>G | CA412391037 | PDHA1 | c.362T>G (p.Leu121Arg) c.341T>G (p.Leu114Arg) c.425T>G (p.Leu142Arg) c.455T>G (p.Leu152Arg) n.443T>G c.476T>G (p.Leu159Arg) | |
| X | g.19351331C>A | CA515485532 | PDHA1 | c.363C>A (p.Leu121=) c.342C>A (p.Leu114=) c.426C>A (p.Leu142=) c.456C>A (p.Leu152=) n.444C>A c.477C>A (p.Leu159=) | |
| X | g.19351331C>G | CA515485533 | PDHA1 | c.363C>G (p.Leu121=) c.342C>G (p.Leu114=) c.426C>G (p.Leu142=) c.456C>G (p.Leu152=) n.444C>G c.477C>G (p.Leu159=) | |
| X | g.19351331C>T | CA515485534 | PDHA1 | c.363C>T (p.Leu121=) c.342C>T (p.Leu114=) c.426C>T (p.Leu142=) c.456C>T (p.Leu152=) n.444C>T c.477C>T (p.Leu159=) | gnomAD v4 |
| X | g.19351332A>C | CA412391043 | PDHA1 | c.364A>C (p.Ile122Leu) c.343A>C (p.Ile115Leu) c.427A>C (p.Ile143Leu) c.457A>C (p.Ile153Leu) n.445A>C c.478A>C (p.Ile160Leu) | gnomAD v4 |
| X | g.19351332A>G | CA412391045 | PDHA1 | c.364A>G (p.Ile122Val) c.343A>G (p.Ile115Val) c.427A>G (p.Ile143Val) c.457A>G (p.Ile153Val) n.445A>G c.478A>G (p.Ile160Val) | |
| X | g.19351332A>T | CA412391047 | PDHA1 | c.364A>T (p.Ile122Phe) c.343A>T (p.Ile115Phe) c.427A>T (p.Ile143Phe) c.457A>T (p.Ile153Phe) n.445A>T c.478A>T (p.Ile160Phe) | |
| X | g.19351333T>A | CA412391049 | PDHA1 | c.365T>A (p.Ile122Asn) c.344T>A (p.Ile115Asn) c.428T>A (p.Ile143Asn) c.458T>A (p.Ile153Asn) n.446T>A c.479T>A (p.Ile160Asn) | |
| X | g.19351333T>C | CA412391051 | PDHA1 | c.365T>C (p.Ile122Thr) c.344T>C (p.Ile115Thr) c.428T>C (p.Ile143Thr) c.458T>C (p.Ile153Thr) n.446T>C c.479T>C (p.Ile160Thr) | |
| X | g.19351333T>G | CA412391052 | PDHA1 | c.365T>G (p.Ile122Ser) c.344T>G (p.Ile115Ser) c.428T>G (p.Ile143Ser) c.458T>G (p.Ile153Ser) n.446T>G c.479T>G (p.Ile160Ser) | |
| X | g.19351334C>A | CA515485535 | PDHA1 | c.366C>A (p.Ile122=) c.345C>A (p.Ile115=) c.429C>A (p.Ile143=) c.459C>A (p.Ile153=) n.447C>A c.480C>A (p.Ile160=) | gnomAD v4 |
| X | g.19351334C= | CA2418222111 | PDHA1 | c.366C= (p.Ile122=) c.345C= (p.Ile115=) c.429C= (p.Ile143=) c.459C= (p.Ile153=) n.447C= c.480C= (p.Ile160=) | |
| X | g.19351334C>G | CA412391054 | PDHA1 | c.366C>G (p.Ile122Met) c.345C>G (p.Ile115Met) c.429C>G (p.Ile143Met) c.459C>G (p.Ile153Met) n.447C>G c.480C>G (p.Ile160Met) | |
| X | g.19351334C>T | CA327024490 | PDHA1 | c.366C>T (p.Ile122=) c.345C>T (p.Ile115=) c.429C>T (p.Ile143=) c.459C>T (p.Ile153=) n.447C>T c.480C>T (p.Ile160=) | ClinVar dbSNP |
| X | g.19351336_19351337del | CA2579566224 | PDHA1 | c.368_369del (p.Thr123SerfsTer?) c.347_348del (p.Thr116SerfsTer?) c.431_432del (p.Thr144SerfsTer?) c.461_462del (p.Thr154SerfsTer?) n.449_450del c.482_483del (p.Thr161SerfsTer?) | |
| X | g.19351335A>C | CA412391056 | PDHA1 | c.367A>C (p.Thr123Pro) c.346A>C (p.Thr116Pro) c.430A>C (p.Thr144Pro) c.460A>C (p.Thr154Pro) n.448A>C c.481A>C (p.Thr161Pro) | |
| X | g.19351335A>G | CA412391058 | PDHA1 | c.367A>G (p.Thr123Ala) c.346A>G (p.Thr116Ala) c.430A>G (p.Thr144Ala) c.460A>G (p.Thr154Ala) n.448A>G c.481A>G (p.Thr161Ala) | |
| X | g.19351335A>T | CA412391060 | PDHA1 | c.367A>T (p.Thr123Ser) c.346A>T (p.Thr116Ser) c.430A>T (p.Thr144Ser) c.460A>T (p.Thr154Ser) n.448A>T c.481A>T (p.Thr161Ser) | |
| X | g.19351336C>A | CA412391063 | PDHA1 | c.368C>A (p.Thr123Lys) c.347C>A (p.Thr116Lys) c.431C>A (p.Thr144Lys) c.461C>A (p.Thr154Lys) n.449C>A c.482C>A (p.Thr161Lys) | gnomAD v4 |
| X | g.19351336C>G | CA412391065 | PDHA1 | c.368C>G (p.Thr123Arg) c.347C>G (p.Thr116Arg) c.431C>G (p.Thr144Arg) c.461C>G (p.Thr154Arg) n.449C>G c.482C>G (p.Thr161Arg) | |
| X | g.19351336C>T | CA412391066 | PDHA1 | c.368C>T (p.Thr123Ile) c.347C>T (p.Thr116Ile) c.431C>T (p.Thr144Ile) c.461C>T (p.Thr154Ile) n.449C>T c.482C>T (p.Thr161Ile) | |
| X | g.19351337A= | CA2418222112 | PDHA1 | c.369A= (p.Thr123=) c.348A= (p.Thr116=) c.432A= (p.Thr144=) c.462A= (p.Thr154=) n.450A= c.483A= (p.Thr161=) | |
| X | g.19351337A>C | CA515485536 | PDHA1 | c.369A>C (p.Thr123=) c.348A>C (p.Thr116=) c.432A>C (p.Thr144=) c.462A>C (p.Thr154=) n.450A>C c.483A>C (p.Thr161=) | |
| X | g.19351337A>G | CA515485537 | PDHA1 | c.369A>G (p.Thr123=) c.348A>G (p.Thr116=) c.432A>G (p.Thr144=) c.462A>G (p.Thr154=) n.450A>G c.483A>G (p.Thr161=) | |
| X | g.19351337A>T | CA327024494 | PDHA1 | c.369A>T (p.Thr123=) c.348A>T (p.Thr116=) c.432A>T (p.Thr144=) c.462A>T (p.Thr154=) n.450A>T c.483A>T (p.Thr161=) | dbSNP |
| X | g.19351338G>A | CA412391071 | PDHA1 | c.370G>A (p.Ala124Thr) c.349G>A (p.Ala117Thr) c.433G>A (p.Ala145Thr) c.463G>A (p.Ala155Thr) n.451G>A c.484G>A (p.Ala162Thr) | gnomAD v4 |
| X | g.19351338G>C | CA412391073 | PDHA1 | c.370G>C (p.Ala124Pro) c.349G>C (p.Ala117Pro) c.433G>C (p.Ala145Pro) c.463G>C (p.Ala155Pro) n.451G>C c.484G>C (p.Ala162Pro) | |
| X | g.19351338G>T | CA412391069 | PDHA1 | c.370G>T (p.Ala124Ser) c.349G>T (p.Ala117Ser) c.433G>T (p.Ala145Ser) c.463G>T (p.Ala155Ser) n.451G>T c.484G>T (p.Ala162Ser) | |
| X | g.19351339C>A | CA412391075 | PDHA1 | c.371C>A (p.Ala124Asp) c.350C>A (p.Ala117Asp) c.434C>A (p.Ala145Asp) c.464C>A (p.Ala155Asp) n.452C>A c.485C>A (p.Ala162Asp) | |
| X | g.19351339C>G | CA412391077 | PDHA1 | c.371C>G (p.Ala124Gly) c.350C>G (p.Ala117Gly) c.434C>G (p.Ala145Gly) c.464C>G (p.Ala155Gly) n.452C>G c.485C>G (p.Ala162Gly) | |
| X | g.19351339C>T | CA412391079 | PDHA1 | c.371C>T (p.Ala124Val) c.350C>T (p.Ala117Val) c.434C>T (p.Ala145Val) c.464C>T (p.Ala155Val) n.452C>T c.485C>T (p.Ala162Val) | |
| X | g.19351340C>A | CA515485538 | PDHA1 | c.372C>A (p.Ala124=) c.351C>A (p.Ala117=) c.435C>A (p.Ala145=) c.465C>A (p.Ala155=) n.453C>A c.486C>A (p.Ala162=) | |
| X | g.19351340C>G | CA515485539 | PDHA1 | c.372C>G (p.Ala124=) c.351C>G (p.Ala117=) c.435C>G (p.Ala145=) c.465C>G (p.Ala155=) n.453C>G c.486C>G (p.Ala162=) | |
| X | g.19351340C>T | CA515485540 | PDHA1 | c.372C>T (p.Ala124=) c.351C>T (p.Ala117=) c.435C>T (p.Ala145=) c.465C>T (p.Ala155=) n.453C>T c.486C>T (p.Ala162=) | |
| X | g.19351341T>A | CA412391081 | PDHA1 | c.373T>A (p.Tyr125Asn) c.352T>A (p.Tyr118Asn) c.436T>A (p.Tyr146Asn) c.466T>A (p.Tyr156Asn) n.454T>A c.487T>A (p.Tyr163Asn) | |
| X | g.19351341T>C | CA412391083 | PDHA1 | c.373T>C (p.Tyr125His) c.352T>C (p.Tyr118His) c.436T>C (p.Tyr146His) c.466T>C (p.Tyr156His) n.454T>C c.487T>C (p.Tyr163His) | |
| X | g.19351341T>G | CA412391085 | PDHA1 | c.373T>G (p.Tyr125Asp) c.352T>G (p.Tyr118Asp) c.436T>G (p.Tyr146Asp) c.466T>G (p.Tyr156Asp) n.454T>G c.487T>G (p.Tyr163Asp) | |
| X | g.19351342A>C | CA412391086 | PDHA1 | c.374A>C (p.Tyr125Ser) c.353A>C (p.Tyr118Ser) c.437A>C (p.Tyr146Ser) c.467A>C (p.Tyr156Ser) n.455A>C c.488A>C (p.Tyr163Ser) | |
| X | g.19351342A>G | CA412391088 | PDHA1 | c.374A>G (p.Tyr125Cys) c.353A>G (p.Tyr118Cys) c.437A>G (p.Tyr146Cys) c.467A>G (p.Tyr156Cys) n.455A>G c.488A>G (p.Tyr163Cys) | |
| X | g.19351342A>T | CA412391089 | PDHA1 | c.374A>T (p.Tyr125Phe) c.353A>T (p.Tyr118Phe) c.437A>T (p.Tyr146Phe) c.467A>T (p.Tyr156Phe) n.455A>T c.488A>T (p.Tyr163Phe) | |
| X | g.19351343C>A | CA412391091 | PDHA1 | c.375C>A (p.Tyr125Ter) c.354C>A (p.Tyr118Ter) c.438C>A (p.Tyr146Ter) c.468C>A (p.Tyr156Ter) n.456C>A c.489C>A (p.Tyr163Ter) | gnomAD v4 |
| X | g.19351343C>G | CA412391093 | PDHA1 | c.375C>G (p.Tyr125Ter) c.354C>G (p.Tyr118Ter) c.438C>G (p.Tyr146Ter) c.468C>G (p.Tyr156Ter) n.456C>G c.489C>G (p.Tyr163Ter) | |
| X | g.19351343C>T | CA515485541 | PDHA1 | c.375C>T (p.Tyr125=) c.354C>T (p.Tyr118=) c.438C>T (p.Tyr146=) c.468C>T (p.Tyr156=) n.456C>T c.489C>T (p.Tyr163=) | ClinVar |
| X | g.19351344C>A | CA515485542 | PDHA1 | c.376C>A (p.Arg126=) c.355C>A (p.Arg119=) c.439C>A (p.Arg147=) c.469C>A (p.Arg157=) n.457C>A c.490C>A (p.Arg164=) | |
| X | g.19351344C>G | CA412391095 | PDHA1 | c.376C>G (p.Arg126Gly) c.355C>G (p.Arg119Gly) c.439C>G (p.Arg147Gly) c.469C>G (p.Arg157Gly) n.457C>G c.490C>G (p.Arg164Gly) | |
| X | g.19351344C>T | CA412391097 | PDHA1 | c.376C>T (p.Arg126Trp) c.355C>T (p.Arg119Trp) c.439C>T (p.Arg147Trp) c.469C>T (p.Arg157Trp) n.457C>T c.490C>T (p.Arg164Trp) | ClinVar dbSNP COSMIC |
| X | g.19351345G>A | CA412391099 | PDHA1 | c.377G>A (p.Arg126Gln) c.356G>A (p.Arg119Gln) c.440G>A (p.Arg147Gln) c.470G>A (p.Arg157Gln) n.458G>A c.491G>A (p.Arg164Gln) | |
| X | g.19351345G>C | CA412391103 | PDHA1 | c.377G>C (p.Arg126Pro) c.356G>C (p.Arg119Pro) c.440G>C (p.Arg147Pro) c.470G>C (p.Arg157Pro) n.458G>C c.491G>C (p.Arg164Pro) | |
| X | g.19351345G>T | CA412391100 | PDHA1 | c.377G>T (p.Arg126Leu) c.356G>T (p.Arg119Leu) c.440G>T (p.Arg147Leu) c.470G>T (p.Arg157Leu) n.458G>T c.491G>T (p.Arg164Leu) | |
| X | g.19351346G>A | CA10363026 | PDHA1 | c.378G>A (p.Arg126=) c.357G>A (p.Arg119=) c.441G>A (p.Arg147=) c.471G>A (p.Arg157=) n.459G>A c.492G>A (p.Arg164=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351346G>C | CA515485543 | PDHA1 | c.378G>C (p.Arg126=) c.357G>C (p.Arg119=) c.441G>C (p.Arg147=) c.471G>C (p.Arg157=) n.459G>C c.492G>C (p.Arg164=) | |
| X | g.19351346G= | CA2418222113 | PDHA1 | c.378G= (p.Arg126=) c.357G= (p.Arg119=) c.441G= (p.Arg147=) c.471G= (p.Arg157=) n.459G= c.492G= (p.Arg164=) | |
| X | g.19351346G>T | CA515485544 | PDHA1 | c.378G>T (p.Arg126=) c.357G>T (p.Arg119=) c.441G>T (p.Arg147=) c.471G>T (p.Arg157=) n.459G>T c.492G>T (p.Arg164=) | |
| X | g.19351347G>A | CA412391107 | PDHA1 | c.379G>A (p.Ala127Thr) c.358G>A (p.Ala120Thr) c.442G>A (p.Ala148Thr) c.472G>A (p.Ala158Thr) n.460G>A c.493G>A (p.Ala165Thr) | |
| X | g.19351347G>C | CA412391109 | PDHA1 | c.379G>C (p.Ala127Pro) c.358G>C (p.Ala120Pro) c.442G>C (p.Ala148Pro) c.472G>C (p.Ala158Pro) n.460G>C c.493G>C (p.Ala165Pro) | |
| X | g.19351347G>T | CA412391110 | PDHA1 | c.379G>T (p.Ala127Ser) c.358G>T (p.Ala120Ser) c.442G>T (p.Ala148Ser) c.472G>T (p.Ala158Ser) n.460G>T c.493G>T (p.Ala165Ser) | COSMIC |
| X | g.19351348C>A | CA412391113 | PDHA1 | c.380C>A (p.Ala127Asp) c.359C>A (p.Ala120Asp) c.443C>A (p.Ala148Asp) c.473C>A (p.Ala158Asp) n.461C>A c.494C>A (p.Ala165Asp) | |
| X | g.19351348C= | CA2418222114 | PDHA1 | c.380C= (p.Ala127=) c.359C= (p.Ala120=) c.443C= (p.Ala148=) c.473C= (p.Ala158=) n.461C= c.494C= (p.Ala165=) | |
| X | g.19351348C>G | CA412391115 | PDHA1 | c.380C>G (p.Ala127Gly) c.359C>G (p.Ala120Gly) c.443C>G (p.Ala148Gly) c.473C>G (p.Ala158Gly) n.461C>G c.494C>G (p.Ala165Gly) | |
| X | g.19351348C>T | CA412391117 | PDHA1 | c.380C>T (p.Ala127Val) c.359C>T (p.Ala120Val) c.443C>T (p.Ala148Val) c.473C>T (p.Ala158Val) n.461C>T c.494C>T (p.Ala165Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351349T>A | CA515485551 | PDHA1 | c.381T>A (p.Ala127=) c.360T>A (p.Ala120=) c.444T>A (p.Ala148=) c.474T>A (p.Ala158=) n.462T>A c.495T>A (p.Ala165=) | |
| X | g.19351349T>C | CA515485555 | PDHA1 | c.381T>C (p.Ala127=) c.360T>C (p.Ala120=) c.444T>C (p.Ala148=) c.474T>C (p.Ala158=) n.462T>C c.495T>C (p.Ala165=) | |
| X | g.19351349T>G | CA515485552 | PDHA1 | c.381T>G (p.Ala127=) c.360T>G (p.Ala120=) c.444T>G (p.Ala148=) c.474T>G (p.Ala158=) n.462T>G c.495T>G (p.Ala165=) | |
| X | g.19351350C>A | CA412391119 | PDHA1 | c.382C>A (p.His128Asn) c.361C>A (p.His121Asn) c.445C>A (p.His149Asn) c.475C>A (p.His159Asn) n.463C>A c.496C>A (p.His166Asn) | |
| X | g.19351350C>G | CA412391120 | PDHA1 | c.382C>G (p.His128Asp) c.361C>G (p.His121Asp) c.445C>G (p.His149Asp) c.475C>G (p.His159Asp) n.463C>G c.496C>G (p.His166Asp) | |
| X | g.19351350C>T | CA412391122 | PDHA1 | c.382C>T (p.His128Tyr) c.361C>T (p.His121Tyr) c.445C>T (p.His149Tyr) c.475C>T (p.His159Tyr) n.463C>T c.496C>T (p.His166Tyr) | |
| X | g.19351351A>C | CA412391126 | PDHA1 | c.383A>C (p.His128Pro) c.362A>C (p.His121Pro) c.446A>C (p.His149Pro) c.476A>C (p.His159Pro) n.464A>C c.497A>C (p.His166Pro) | |
| X | g.19351351A>G | CA412391128 | PDHA1 | c.383A>G (p.His128Arg) c.362A>G (p.His121Arg) c.446A>G (p.His149Arg) c.476A>G (p.His159Arg) n.464A>G c.497A>G (p.His166Arg) | |
| X | g.19351351A>T | CA412391125 | PDHA1 | c.383A>T (p.His128Leu) c.362A>T (p.His121Leu) c.446A>T (p.His149Leu) c.476A>T (p.His159Leu) n.464A>T c.497A>T (p.His166Leu) | |
| X | g.19351352C>A | CA412391132 | PDHA1 | c.384C>A (p.His128Gln) c.363C>A (p.His121Gln) c.447C>A (p.His149Gln) c.477C>A (p.His159Gln) n.465C>A c.498C>A (p.His166Gln) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19351352C= | CA2418222115 | PDHA1 | c.384C= (p.His128=) c.363C= (p.His121=) c.447C= (p.His149=) c.477C= (p.His159=) n.465C= c.498C= (p.His166=) | |
| X | g.19351352C>G | CA412391131 | PDHA1 | c.384C>G (p.His128Gln) c.363C>G (p.His121Gln) c.447C>G (p.His149Gln) c.477C>G (p.His159Gln) n.465C>G c.498C>G (p.His166Gln) | |
| X | g.19351352C>T | CA10363027 | PDHA1 | c.384C>T (p.His128=) c.363C>T (p.His121=) c.447C>T (p.His149=) c.477C>T (p.His159=) n.465C>T c.498C>T (p.His166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.19351353G>A | CA412391135 | PDHA1 | c.385G>A (p.Gly129Ser) c.364G>A (p.Gly122Ser) c.448G>A (p.Gly150Ser) c.478G>A (p.Gly160Ser) n.466G>A c.499G>A (p.Gly167Ser) | ClinVar dbSNP |
| X | g.19351353G>C | CA412391137 | PDHA1 | c.385G>C (p.Gly129Arg) c.364G>C (p.Gly122Arg) c.448G>C (p.Gly150Arg) c.478G>C (p.Gly160Arg) n.466G>C c.499G>C (p.Gly167Arg) | |
| X | g.19351353G= | CA2418222116 | PDHA1 | c.385G= (p.Gly129=) c.364G= (p.Gly122=) c.448G= (p.Gly150=) c.478G= (p.Gly160=) n.466G= c.499G= (p.Gly167=) | |
| X | g.19351353G>T | CA412391139 | PDHA1 | c.385G>T (p.Gly129Cys) c.364G>T (p.Gly122Cys) c.448G>T (p.Gly150Cys) c.478G>T (p.Gly160Cys) n.466G>T c.499G>T (p.Gly167Cys) | |
| X | g.19351354G>A | CA412391142 | PDHA1 | c.386G>A (p.Gly129Asp) c.365G>A (p.Gly122Asp) c.449G>A (p.Gly150Asp) c.479G>A (p.Gly160Asp) n.467G>A c.500G>A (p.Gly167Asp) | |
| X | g.19351354G>C | CA412391144 | PDHA1 | c.386G>C (p.Gly129Ala) c.365G>C (p.Gly122Ala) c.449G>C (p.Gly150Ala) c.479G>C (p.Gly160Ala) n.467G>C c.500G>C (p.Gly167Ala) | |
| X | g.19351354G>T | CA412391146 | PDHA1 | c.386G>T (p.Gly129Val) c.365G>T (p.Gly122Val) c.449G>T (p.Gly150Val) c.479G>T (p.Gly160Val) n.467G>T c.500G>T (p.Gly167Val) | |
| X | g.19351355C>A | CA515485567 | PDHA1 | c.387C>A (p.Gly129=) c.366C>A (p.Gly122=) c.450C>A (p.Gly150=) c.480C>A (p.Gly160=) n.468C>A c.501C>A (p.Gly167=) | |
| X | g.19351355C>G | CA515485568 | PDHA1 | c.387C>G (p.Gly129=) c.366C>G (p.Gly122=) c.450C>G (p.Gly150=) c.480C>G (p.Gly160=) n.468C>G c.501C>G (p.Gly167=) | |
| X | g.19351355C>T | CA515485570 | PDHA1 | c.387C>T (p.Gly129=) c.366C>T (p.Gly122=) c.450C>T (p.Gly150=) c.480C>T (p.Gly160=) n.468C>T c.501C>T (p.Gly167=) | |
| X | g.19351356T>A | CA412391147 | PDHA1 | c.388T>A (p.Phe130Ile) c.367T>A (p.Phe123Ile) c.451T>A (p.Phe151Ile) c.481T>A (p.Phe161Ile) n.469T>A c.502T>A (p.Phe168Ile) | |
| X | g.19351356T>C | CA412391150 | PDHA1 | c.388T>C (p.Phe130Leu) c.367T>C (p.Phe123Leu) c.451T>C (p.Phe151Leu) c.481T>C (p.Phe161Leu) n.469T>C c.502T>C (p.Phe168Leu) | |
| X | g.19351356T>G | CA412391152 | PDHA1 | c.388T>G (p.Phe130Val) c.367T>G (p.Phe123Val) c.451T>G (p.Phe151Val) c.481T>G (p.Phe161Val) n.469T>G c.502T>G (p.Phe168Val) | |
| X | g.19351357T>A | CA412391154 | PDHA1 | c.389T>A (p.Phe130Tyr) c.368T>A (p.Phe123Tyr) c.452T>A (p.Phe151Tyr) c.482T>A (p.Phe161Tyr) n.470T>A c.503T>A (p.Phe168Tyr) | |
| X | g.19351357T>C | CA412391156 | PDHA1 | c.389T>C (p.Phe130Ser) c.368T>C (p.Phe123Ser) c.452T>C (p.Phe151Ser) c.482T>C (p.Phe161Ser) n.470T>C c.503T>C (p.Phe168Ser) | |
| X | g.19351357T>G | CA412391158 | PDHA1 | c.389T>G (p.Phe130Cys) c.368T>G (p.Phe123Cys) c.452T>G (p.Phe151Cys) c.482T>G (p.Phe161Cys) n.470T>G c.503T>G (p.Phe168Cys) | |
| X | g.19351358T>A | CA412391162 | PDHA1 | c.390T>A (p.Phe130Leu) c.369T>A (p.Phe123Leu) c.453T>A (p.Phe151Leu) c.483T>A (p.Phe161Leu) n.471T>A c.504T>A (p.Phe168Leu) | |
| X | g.19351358T>C | CA515485577 | PDHA1 | c.390T>C (p.Phe130=) c.369T>C (p.Phe123=) c.453T>C (p.Phe151=) c.483T>C (p.Phe161=) n.471T>C c.504T>C (p.Phe168=) | gnomAD v4 |
| X | g.19351358T>G | CA412391160 | PDHA1 | c.390T>G (p.Phe130Leu) c.369T>G (p.Phe123Leu) c.453T>G (p.Phe151Leu) c.483T>G (p.Phe161Leu) n.471T>G c.504T>G (p.Phe168Leu) | |
| X | g.19351359A>C | CA412391165 | PDHA1 | c.391A>C (p.Thr131Pro) c.370A>C (p.Thr124Pro) c.454A>C (p.Thr152Pro) c.484A>C (p.Thr162Pro) n.472A>C c.505A>C (p.Thr169Pro) | |
| X | g.19351359A>G | CA412391166 | PDHA1 | c.391A>G (p.Thr131Ala) c.370A>G (p.Thr124Ala) c.454A>G (p.Thr152Ala) c.484A>G (p.Thr162Ala) n.472A>G c.505A>G (p.Thr169Ala) | |
| X | g.19351359A>T | CA412391168 | PDHA1 | c.391A>T (p.Thr131Ser) c.370A>T (p.Thr124Ser) c.454A>T (p.Thr152Ser) c.484A>T (p.Thr162Ser) n.472A>T c.505A>T (p.Thr169Ser) | |
| X | g.19351360C>A | CA412391171 | PDHA1 | c.392C>A (p.Thr131Asn) c.371C>A (p.Thr124Asn) c.455C>A (p.Thr152Asn) c.485C>A (p.Thr162Asn) n.473C>A c.506C>A (p.Thr169Asn) | |
| X | g.19351360C>G | CA412391172 | PDHA1 | c.392C>G (p.Thr131Ser) c.371C>G (p.Thr124Ser) c.455C>G (p.Thr152Ser) c.485C>G (p.Thr162Ser) n.473C>G c.506C>G (p.Thr169Ser) | |
| X | g.19351360C>T | CA412391174 | PDHA1 | c.392C>T (p.Thr131Ile) c.371C>T (p.Thr124Ile) c.455C>T (p.Thr152Ile) c.485C>T (p.Thr162Ile) n.473C>T c.506C>T (p.Thr169Ile) | |
| X | g.19351361T>A | CA515485588 | PDHA1 | c.393T>A (p.Thr131=) c.372T>A (p.Thr124=) c.456T>A (p.Thr152=) c.486T>A (p.Thr162=) n.474T>A c.507T>A (p.Thr169=) | |
| X | g.19351361T>C | CA515485590 | PDHA1 | c.393T>C (p.Thr131=) c.372T>C (p.Thr124=) c.456T>C (p.Thr152=) c.486T>C (p.Thr162=) n.474T>C c.507T>C (p.Thr169=) | |
| X | g.19351361T>G | CA515485592 | PDHA1 | c.393T>G (p.Thr131=) c.372T>G (p.Thr124=) c.456T>G (p.Thr152=) c.486T>G (p.Thr162=) n.474T>G c.507T>G (p.Thr169=) | |
| X | g.19351362T>A | CA412391179 | PDHA1 | c.394T>A (p.Phe132Ile) c.373T>A (p.Phe125Ile) c.457T>A (p.Phe153Ile) c.487T>A (p.Phe163Ile) n.475T>A c.508T>A (p.Phe170Ile) | |
| X | g.19351362T>C | CA412391177 | PDHA1 | c.394T>C (p.Phe132Leu) c.373T>C (p.Phe125Leu) c.457T>C (p.Phe153Leu) c.487T>C (p.Phe163Leu) n.475T>C c.508T>C (p.Phe170Leu) | gnomAD v4 |
| X | g.19351362T>G | CA412391178 | PDHA1 | c.394T>G (p.Phe132Val) c.373T>G (p.Phe125Val) c.457T>G (p.Phe153Val) c.487T>G (p.Phe163Val) n.475T>G c.508T>G (p.Phe170Val) | |
| X | g.19351363T>A | CA412391180 | PDHA1 | c.395T>A (p.Phe132Tyr) c.374T>A (p.Phe125Tyr) c.458T>A (p.Phe153Tyr) c.488T>A (p.Phe163Tyr) n.476T>A c.509T>A (p.Phe170Tyr) | |
| X | g.19351363T>C | CA412391181 | PDHA1 | c.395T>C (p.Phe132Ser) c.374T>C (p.Phe125Ser) c.458T>C (p.Phe153Ser) c.488T>C (p.Phe163Ser) n.476T>C c.509T>C (p.Phe170Ser) | |
| X | g.19351363T>G | CA412391183 | PDHA1 | c.395T>G (p.Phe132Cys) c.374T>G (p.Phe125Cys) c.458T>G (p.Phe153Cys) c.488T>G (p.Phe163Cys) n.476T>G c.509T>G (p.Phe170Cys) | |
| X | g.19351364C>A | CA412391185 | PDHA1 | c.396C>A (p.Phe132Leu) c.375C>A (p.Phe125Leu) c.459C>A (p.Phe153Leu) c.489C>A (p.Phe163Leu) n.477C>A c.510C>A (p.Phe170Leu) | |
| X | g.19351364C= | CA2418222117 | PDHA1 | c.396C= (p.Phe132=) c.375C= (p.Phe125=) c.459C= (p.Phe153=) c.489C= (p.Phe163=) n.477C= c.510C= (p.Phe170=) | |
| X | g.19351364C>G | CA412391187 | PDHA1 | c.396C>G (p.Phe132Leu) c.375C>G (p.Phe125Leu) c.459C>G (p.Phe153Leu) c.489C>G (p.Phe163Leu) n.477C>G c.510C>G (p.Phe170Leu) | |
| X | g.19351364C>T | CA515485602 | PDHA1 | c.396C>T (p.Phe132=) c.375C>T (p.Phe125=) c.459C>T (p.Phe153=) c.489C>T (p.Phe163=) n.477C>T c.510C>T (p.Phe170=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19351365_19351366del | CA2579566225 | PDHA1 | c.397_398del (p.Thr133ProfsTer21) c.376_377del (p.Thr126ProfsTer21) c.460_461del (p.Thr154ProfsTer21) c.490_491del (p.Thr164ProfsTer21) c.376_377del (p.Thr126ProfsTer?) c.376_377del (p.Thr126ProfsTer23) n.478_479del c.511_512del (p.Thr171ProfsTer21) | |
| X | g.19351365A>C | CA412391189 | PDHA1 | c.397A>C (p.Thr133Pro) c.376A>C (p.Thr126Pro) c.460A>C (p.Thr154Pro) c.490A>C (p.Thr164Pro) n.478A>C c.511A>C (p.Thr171Pro) | |
| X | g.19351365A>G | CA412391193 | PDHA1 | c.397A>G (p.Thr133Ala) c.376A>G (p.Thr126Ala) c.460A>G (p.Thr154Ala) c.490A>G (p.Thr164Ala) n.478A>G c.511A>G (p.Thr171Ala) | gnomAD v4 |
| X | g.19351365A>T | CA412391191 | PDHA1 | c.397A>T (p.Thr133Ser) c.376A>T (p.Thr126Ser) c.460A>T (p.Thr154Ser) c.490A>T (p.Thr164Ser) n.478A>T c.511A>T (p.Thr171Ser) | |
| X | g.19351366C>A | CA412391196 | PDHA1 | c.398C>A (p.Thr133Asn) c.377C>A (p.Thr126Asn) c.461C>A (p.Thr154Asn) c.491C>A (p.Thr164Asn) n.479C>A c.512C>A (p.Thr171Asn) | |
| X | g.19351366C>G | CA412391198 | PDHA1 | c.398C>G (p.Thr133Ser) c.377C>G (p.Thr126Ser) c.461C>G (p.Thr154Ser) c.491C>G (p.Thr164Ser) n.479C>G c.512C>G (p.Thr171Ser) | |
| X | g.19351366C>T | CA412391200 | PDHA1 | c.398C>T (p.Thr133Ile) c.377C>T (p.Thr126Ile) c.461C>T (p.Thr154Ile) c.491C>T (p.Thr164Ile) n.479C>T c.512C>T (p.Thr171Ile) | |
| X | g.19351367C>A | CA515485610 | PDHA1 | c.399C>A (p.Thr133=) c.378C>A (p.Thr126=) c.462C>A (p.Thr154=) c.492C>A (p.Thr164=) n.480C>A c.513C>A (p.Thr171=) | |
| X | g.19351367C= | CA2418222118 | PDHA1 | c.399C= (p.Thr133=) c.378C= (p.Thr126=) c.462C= (p.Thr154=) c.492C= (p.Thr164=) n.480C= c.513C= (p.Thr171=) | |
| X | g.19351367C>G | CA515485611 | PDHA1 | c.399C>G (p.Thr133=) c.378C>G (p.Thr126=) c.462C>G (p.Thr154=) c.492C>G (p.Thr164=) n.480C>G c.513C>G (p.Thr171=) | dbSNP |
| X | g.19351367C>T | CA515485613 | PDHA1 | c.399C>T (p.Thr133=) c.378C>T (p.Thr126=) c.462C>T (p.Thr154=) c.492C>T (p.Thr164=) n.480C>T c.513C>T (p.Thr171=) | |
| X | g.19351368C>A | CA515485615 | PDHA1 | c.400C>A (p.Arg134=) c.379C>A (p.Arg127=) c.463C>A (p.Arg155=) c.493C>A (p.Arg165=) n.481C>A c.514C>A (p.Arg172=) | |
| X | g.19351368C= | CA2418222119 | PDHA1 | c.400C= (p.Arg134=) c.379C= (p.Arg127=) c.463C= (p.Arg155=) c.493C= (p.Arg165=) n.481C= c.514C= (p.Arg172=) | |
| X | g.19351368C>G | CA412391201 | PDHA1 | c.400C>G (p.Arg134Gly) c.379C>G (p.Arg127Gly) c.463C>G (p.Arg155Gly) c.493C>G (p.Arg165Gly) n.481C>G c.514C>G (p.Arg172Gly) | |
| X | g.19351368C>T | CA321249 | PDHA1 | c.400C>T (p.Arg134Trp) c.379C>T (p.Arg127Trp) c.463C>T (p.Arg155Trp) c.493C>T (p.Arg165Trp) n.481C>T c.514C>T (p.Arg172Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.19351369G>A | CA412391206 | PDHA1 | c.401G>A (p.Arg134Gln) c.380G>A (p.Arg127Gln) c.464G>A (p.Arg155Gln) c.494G>A (p.Arg165Gln) n.482G>A c.515G>A (p.Arg172Gln) | ClinVar dbSNP |
| X | g.19351369G>C | CA412391208 | PDHA1 | c.401G>C (p.Arg134Pro) c.380G>C (p.Arg127Pro) c.464G>C (p.Arg155Pro) c.494G>C (p.Arg165Pro) n.482G>C c.515G>C (p.Arg172Pro) | |
| X | g.19351369G= | CA2418222120 | PDHA1 | c.401G= (p.Arg134=) c.380G= (p.Arg127=) c.464G= (p.Arg155=) c.494G= (p.Arg165=) n.482G= c.515G= (p.Arg172=) | |
| X | g.19351369G>T | CA412391209 | PDHA1 | c.401G>T (p.Arg134Leu) c.380G>T (p.Arg127Leu) c.464G>T (p.Arg155Leu) c.494G>T (p.Arg165Leu) n.482G>T c.515G>T (p.Arg172Leu) | |
| X | g.19351370G>A | CA515485623 | PDHA1 | c.402G>A (p.Arg134=) c.381G>A (p.Arg127=) c.465G>A (p.Arg155=) c.495G>A (p.Arg165=) n.483G>A c.516G>A (p.Arg172=) | |
| X | g.19351370G>C | CA515485624 | PDHA1 | c.402G>C (p.Arg134=) c.381G>C (p.Arg127=) c.465G>C (p.Arg155=) c.495G>C (p.Arg165=) n.483G>C c.516G>C (p.Arg172=) | |
| X | g.19351370G>T | CA515485621 | PDHA1 | c.402G>T (p.Arg134=) c.381G>T (p.Arg127=) c.465G>T (p.Arg155=) c.495G>T (p.Arg165=) n.483G>T c.516G>T (p.Arg172=) | |
| X | g.19351371G>A | CA412391212 | PDHA1 | c.403G>A (p.Gly135Ser) c.382G>A (p.Gly128Ser) c.466G>A (p.Gly156Ser) c.496G>A (p.Gly166Ser) n.484G>A c.517G>A (p.Gly173Ser) | |
| X | g.19351371G>C | CA412391214 | PDHA1 | c.403G>C (p.Gly135Arg) c.382G>C (p.Gly128Arg) c.466G>C (p.Gly156Arg) c.496G>C (p.Gly166Arg) n.484G>C c.517G>C (p.Gly173Arg) | |
| X | g.19351371G>T | CA412391215 | PDHA1 | c.403G>T (p.Gly135Cys) c.382G>T (p.Gly128Cys) c.466G>T (p.Gly156Cys) c.496G>T (p.Gly166Cys) n.484G>T c.517G>T (p.Gly173Cys) | |
| X | g.19351372G>A | CA412391222 | PDHA1 | c.404G>A (p.Gly135Asp) c.383G>A (p.Gly128Asp) c.467G>A (p.Gly156Asp) c.497G>A (p.Gly166Asp) n.485G>A c.518G>A (p.Gly173Asp) | ClinVar |
| X | g.19351372G>C | CA412391220 | PDHA1 | c.404G>C (p.Gly135Ala) c.383G>C (p.Gly128Ala) c.467G>C (p.Gly156Ala) c.497G>C (p.Gly166Ala) n.485G>C c.518G>C (p.Gly173Ala) | |
| X | g.19351372G>T | CA412391218 | PDHA1 | c.404G>T (p.Gly135Val) c.383G>T (p.Gly128Val) c.467G>T (p.Gly156Val) c.497G>T (p.Gly166Val) n.485G>T c.518G>T (p.Gly173Val) | |
| X | g.19351373C>A | CA515485633 | PDHA1 | c.405C>A (p.Gly135=) c.384C>A (p.Gly128=) c.468C>A (p.Gly156=) c.498C>A (p.Gly166=) n.486C>A c.519C>A (p.Gly173=) | gnomAD v4 |
| X | g.19351373C>G | CA515485632 | PDHA1 | c.405C>G (p.Gly135=) c.384C>G (p.Gly128=) c.468C>G (p.Gly156=) c.498C>G (p.Gly166=) n.486C>G c.519C>G (p.Gly173=) | |
| X | g.19351373C>T | CA515485631 | PDHA1 | c.405C>T (p.Gly135=) c.384C>T (p.Gly128=) c.468C>T (p.Gly156=) c.498C>T (p.Gly166=) n.486C>T c.519C>T (p.Gly173=) | |
| X | g.19351374C>A | CA412391224 | PDHA1 | c.406C>A (p.Leu136Ile) c.385C>A (p.Leu129Ile) c.469C>A (p.Leu157Ile) c.499C>A (p.Leu167Ile) n.487C>A c.520C>A (p.Leu174Ile) | |
| X | g.19351374C>G | CA412391225 | PDHA1 | c.406C>G (p.Leu136Val) c.385C>G (p.Leu129Val) c.469C>G (p.Leu157Val) c.499C>G (p.Leu167Val) n.487C>G c.520C>G (p.Leu174Val) | |
| X | g.19351374C>T | CA412391227 | PDHA1 | c.406C>T (p.Leu136Phe) c.385C>T (p.Leu129Phe) c.469C>T (p.Leu157Phe) c.499C>T (p.Leu167Phe) n.487C>T c.520C>T (p.Leu174Phe) | |
| X | g.19351375T>A | CA412391229 | PDHA1 | c.407T>A (p.Leu136His) c.386T>A (p.Leu129His) c.470T>A (p.Leu157His) c.500T>A (p.Leu167His) n.488T>A c.521T>A (p.Leu174His) | |
| X | g.19351375T>C | CA412391230 | PDHA1 | c.407T>C (p.Leu136Pro) c.386T>C (p.Leu129Pro) c.470T>C (p.Leu157Pro) c.500T>C (p.Leu167Pro) n.488T>C c.521T>C (p.Leu174Pro) | |
| X | g.19351375T>G | CA412391232 | PDHA1 | c.407T>G (p.Leu136Arg) c.386T>G (p.Leu129Arg) c.470T>G (p.Leu157Arg) c.500T>G (p.Leu167Arg) n.488T>G c.521T>G (p.Leu174Arg) | |
| X | g.19351376T>A | CA515485639 | PDHA1 | c.408T>A (p.Leu136=) c.387T>A (p.Leu129=) c.471T>A (p.Leu157=) c.501T>A (p.Leu167=) n.489T>A c.522T>A (p.Leu174=) | |
| X | g.19351376T>C | CA515485641 | PDHA1 | c.408T>C (p.Leu136=) c.387T>C (p.Leu129=) c.471T>C (p.Leu157=) c.501T>C (p.Leu167=) n.489T>C c.522T>C (p.Leu174=) | gnomAD v4 |
| X | g.19351376T>G | CA515485640 | PDHA1 | c.408T>G (p.Leu136=) c.387T>G (p.Leu129=) c.471T>G (p.Leu157=) c.501T>G (p.Leu167=) n.489T>G c.522T>G (p.Leu174=) | |
| X | g.19351377T>A | CA412391235 | PDHA1 | c.409T>A (p.Ser137Thr) c.388T>A (p.Ser130Thr) c.472T>A (p.Ser158Thr) c.502T>A (p.Ser168Thr) n.490T>A c.523T>A (p.Ser175Thr) | |
| X | g.19351377T>C | CA412391236 | PDHA1 | c.409T>C (p.Ser137Pro) c.388T>C (p.Ser130Pro) c.472T>C (p.Ser158Pro) c.502T>C (p.Ser168Pro) n.490T>C c.523T>C (p.Ser175Pro) | |
| X | g.19351377T>G | CA412391238 | PDHA1 | c.409T>G (p.Ser137Ala) c.388T>G (p.Ser130Ala) c.472T>G (p.Ser158Ala) c.502T>G (p.Ser168Ala) n.490T>G c.523T>G (p.Ser175Ala) | |
| X | g.19351378C>A | CA412391240 | PDHA1 | c.410C>A (p.Ser137Tyr) c.389C>A (p.Ser130Tyr) c.473C>A (p.Ser158Tyr) c.503C>A (p.Ser168Tyr) n.491C>A c.524C>A (p.Ser175Tyr) | |
| X | g.19351378C>G | CA412391242 | PDHA1 | c.410C>G (p.Ser137Cys) c.389C>G (p.Ser130Cys) c.473C>G (p.Ser158Cys) c.503C>G (p.Ser168Cys) n.491C>G c.524C>G (p.Ser175Cys) | |
| X | g.19351378C>T | CA412391244 | PDHA1 | c.410C>T (p.Ser137Phe) c.389C>T (p.Ser130Phe) c.473C>T (p.Ser158Phe) c.503C>T (p.Ser168Phe) n.491C>T c.524C>T (p.Ser175Phe) | |
| X | g.19351379del | CA2738436662 | PDHA1 | c.411del (p.Val138SerfsTer?) c.390del (p.Val131SerfsTer?) c.474del (p.Val159SerfsTer?) c.504del (p.Val169SerfsTer?) n.492del c.525del (p.Val176SerfsTer?) | dbSNP |
| X | g.19351379C>A | CA515485647 | PDHA1 | c.411C>A (p.Ser137=) c.390C>A (p.Ser130=) c.474C>A (p.Ser158=) c.504C>A (p.Ser168=) n.492C>A c.525C>A (p.Ser175=) | |
| X | g.19351379C= | CA2418222121 | PDHA1 | c.411C= (p.Ser137=) c.390C= (p.Ser130=) c.474C= (p.Ser158=) c.504C= (p.Ser168=) n.492C= c.525C= (p.Ser175=) | |
| X | g.19351379C>G | CA515485649 | PDHA1 | c.411C>G (p.Ser137=) c.390C>G (p.Ser130=) c.474C>G (p.Ser158=) c.504C>G (p.Ser168=) n.492C>G c.525C>G (p.Ser175=) | |
| X | g.19351379C>T | CA10363028 | PDHA1 | c.411C>T (p.Ser137=) c.390C>T (p.Ser130=) c.474C>T (p.Ser158=) c.504C>T (p.Ser168=) n.492C>T c.525C>T (p.Ser175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.19351380G>A | CA10363029 | PDHA1 | c.412G>A (p.Val138Ile) c.391G>A (p.Val131Ile) c.475G>A (p.Val159Ile) c.505G>A (p.Val169Ile) n.493G>A c.526G>A (p.Val176Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351380G>C | CA412391249 | PDHA1 | c.412G>C (p.Val138Leu) c.391G>C (p.Val131Leu) c.475G>C (p.Val159Leu) c.505G>C (p.Val169Leu) n.493G>C c.526G>C (p.Val176Leu) | |
| X | g.19351380G= | CA2418222122 | PDHA1 | c.412G= (p.Val138=) c.391G= (p.Val131=) c.475G= (p.Val159=) c.505G= (p.Val169=) n.493G= c.526G= (p.Val176=) | |
| X | g.19351380G>T | CA412391248 | PDHA1 | c.412G>T (p.Val138Phe) c.391G>T (p.Val131Phe) c.475G>T (p.Val159Phe) c.505G>T (p.Val169Phe) n.493G>T c.526G>T (p.Val176Phe) | |
| X | g.19351381T>A | CA412391253 | PDHA1 | c.413T>A (p.Val138Asp) c.392T>A (p.Val131Asp) c.476T>A (p.Val159Asp) c.506T>A (p.Val169Asp) n.494T>A c.527T>A (p.Val176Asp) | |
| X | g.19351381T>C | CA412391252 | PDHA1 | c.413T>C (p.Val138Ala) c.392T>C (p.Val131Ala) c.476T>C (p.Val159Ala) c.506T>C (p.Val169Ala) n.494T>C c.527T>C (p.Val176Ala) | |
| X | g.19351381T>G | CA412391255 | PDHA1 | c.413T>G (p.Val138Gly) c.392T>G (p.Val131Gly) c.476T>G (p.Val159Gly) c.506T>G (p.Val169Gly) n.494T>G c.527T>G (p.Val176Gly) | |
| X | g.19351382C>A | CA515485656 | PDHA1 | c.414C>A (p.Val138=) c.393C>A (p.Val131=) c.477C>A (p.Val159=) c.507C>A (p.Val169=) n.495C>A c.528C>A (p.Val176=) | |
| X | g.19351382C>G | CA515485658 | PDHA1 | c.414C>G (p.Val138=) c.393C>G (p.Val131=) c.477C>G (p.Val159=) c.507C>G (p.Val169=) n.495C>G c.528C>G (p.Val176=) | |
| X | g.19351382C>T | CA515485660 | PDHA1 | c.414C>T (p.Val138=) c.393C>T (p.Val131=) c.477C>T (p.Val159=) c.507C>T (p.Val169=) n.495C>T c.528C>T (p.Val176=) | |
| X | g.19351383del | CA2819936434 | PDHA1 | c.415del (p.Arg139GlufsTer?) c.394del (p.Arg132GlufsTer?) c.478del (p.Arg160GlufsTer?) c.508del (p.Arg170GlufsTer?) n.496del c.529del (p.Arg177GlufsTer?) | |
| X | g.19351383C>A | CA515485661 | PDHA1 | c.415C>A (p.Arg139=) c.394C>A (p.Arg132=) c.478C>A (p.Arg160=) c.508C>A (p.Arg170=) n.496C>A c.529C>A (p.Arg177=) | |
| X | g.19351383C= | CA2418222123 | PDHA1 | c.415C= (p.Arg139=) c.394C= (p.Arg132=) c.478C= (p.Arg160=) c.508C= (p.Arg170=) n.496C= c.529C= (p.Arg177=) | |
| X | g.19351383C>G | CA412391259 | PDHA1 | c.415C>G (p.Arg139Gly) c.394C>G (p.Arg132Gly) c.478C>G (p.Arg160Gly) c.508C>G (p.Arg170Gly) n.496C>G c.529C>G (p.Arg177Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351383C>T | CA412391261 | PDHA1 | c.415C>T (p.Arg139Ter) c.394C>T (p.Arg132Ter) c.478C>T (p.Arg160Ter) c.508C>T (p.Arg170Ter) n.496C>T c.529C>T (p.Arg177Ter) | |
| X | g.19351384G>A | CA412391264 | PDHA1 | c.416G>A (p.Arg139Gln) c.395G>A (p.Arg132Gln) c.479G>A (p.Arg160Gln) c.509G>A (p.Arg170Gln) n.497G>A c.530G>A (p.Arg177Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.19351384G>C | CA412391266 | PDHA1 | c.416G>C (p.Arg139Pro) c.395G>C (p.Arg132Pro) c.479G>C (p.Arg160Pro) c.509G>C (p.Arg170Pro) n.497G>C c.530G>C (p.Arg177Pro) | |
| X | g.19351384G= | CA2418222124 | PDHA1 | c.416G= (p.Arg139=) c.395G= (p.Arg132=) c.479G= (p.Arg160=) c.509G= (p.Arg170=) n.497G= c.530G= (p.Arg177=) | |
| X | g.19351384G>T | CA412391269 | PDHA1 | c.416G>T (p.Arg139Leu) c.395G>T (p.Arg132Leu) c.479G>T (p.Arg160Leu) c.509G>T (p.Arg170Leu) n.497G>T c.530G>T (p.Arg177Leu) | |
| X | g.19351385A= | CA2418222125 | PDHA1 | c.417A= (p.Arg139=) c.396A= (p.Arg132=) c.480A= (p.Arg160=) c.510A= (p.Arg170=) n.498A= c.531A= (p.Arg177=) | |
| X | g.19351385A>C | CA10363030 | PDHA1 | c.417A>C (p.Arg139=) c.396A>C (p.Arg132=) c.480A>C (p.Arg160=) c.510A>C (p.Arg170=) n.498A>C c.531A>C (p.Arg177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19351385A>G | CA515485668 | PDHA1 | c.417A>G (p.Arg139=) c.396A>G (p.Arg132=) c.480A>G (p.Arg160=) c.510A>G (p.Arg170=) n.498A>G c.531A>G (p.Arg177=) | |
| X | g.19351385A>T | CA515485670 | PDHA1 | c.417A>T (p.Arg139=) c.396A>T (p.Arg132=) c.480A>T (p.Arg160=) c.510A>T (p.Arg170=) n.498A>T c.531A>T (p.Arg177=) | |
| X | g.19351386G>A | CA412391283 | PDHA1 | c.418G>A (p.Glu140Lys) c.397G>A (p.Glu133Lys) c.481G>A (p.Glu161Lys) c.511G>A (p.Glu171Lys) n.499G>A c.532G>A (p.Glu178Lys) | ClinVar |
| X | g.19351386G>C | CA412391277 | PDHA1 | c.418G>C (p.Glu140Gln) c.397G>C (p.Glu133Gln) c.481G>C (p.Glu161Gln) c.511G>C (p.Glu171Gln) n.499G>C c.532G>C (p.Glu178Gln) | |
| X | g.19351386G= | CA2418222126 | PDHA1 | c.418G= (p.Glu140=) c.397G= (p.Glu133=) c.481G= (p.Glu161=) c.511G= (p.Glu171=) n.499G= c.532G= (p.Glu178=) | |
| X | g.19351386G>T | CA412391280 | PDHA1 | c.418G>T (p.Glu140Ter) c.397G>T (p.Glu133Ter) c.481G>T (p.Glu161Ter) c.511G>T (p.Glu171Ter) n.499G>T c.532G>T (p.Glu178Ter) | dbSNP |
| X | g.19351387A>C | CA412391287 | PDHA1 | c.419A>C (p.Glu140Ala) c.398A>C (p.Glu133Ala) c.482A>C (p.Glu161Ala) c.512A>C (p.Glu171Ala) n.500A>C c.533A>C (p.Glu178Ala) | |
| X | g.19351387A>G | CA412391290 | PDHA1 | c.419A>G (p.Glu140Gly) c.398A>G (p.Glu133Gly) c.482A>G (p.Glu161Gly) c.512A>G (p.Glu171Gly) n.500A>G c.533A>G (p.Glu178Gly) | |
| X | g.19351387A>T | CA412391293 | PDHA1 | c.419A>T (p.Glu140Val) c.398A>T (p.Glu133Val) c.482A>T (p.Glu161Val) c.512A>T (p.Glu171Val) n.500A>T c.533A>T (p.Glu178Val) | |
| X | g.19351388A>C | CA412391297 | PDHA1 | c.420A>C (p.Glu140Asp) c.399A>C (p.Glu133Asp) c.483A>C (p.Glu161Asp) c.513A>C (p.Glu171Asp) n.501A>C c.534A>C (p.Glu178Asp) | |
| X | g.19351388A>G | CA515485677 | PDHA1 | c.420A>G (p.Glu140=) c.399A>G (p.Glu133=) c.483A>G (p.Glu161=) c.513A>G (p.Glu171=) n.501A>G c.534A>G (p.Glu178=) | |
| X | g.19351388A>T | CA412391300 | PDHA1 | c.420A>T (p.Glu140Asp) c.399A>T (p.Glu133Asp) c.483A>T (p.Glu161Asp) c.513A>T (p.Glu171Asp) n.501A>T c.534A>T (p.Glu178Asp) | |
| X | g.19351389A>C | CA412391304 | PDHA1 | c.421A>C (p.Ile141Leu) c.400A>C (p.Ile134Leu) c.484A>C (p.Ile162Leu) c.514A>C (p.Ile172Leu) n.502A>C c.535A>C (p.Ile179Leu) | |
| X | g.19351389A>G | CA412391310 | PDHA1 | c.421A>G (p.Ile141Val) c.400A>G (p.Ile134Val) c.484A>G (p.Ile162Val) c.514A>G (p.Ile172Val) n.502A>G c.535A>G (p.Ile179Val) | |
| X | g.19351389A>T | CA412391307 | PDHA1 | c.421A>T (p.Ile141Phe) c.400A>T (p.Ile134Phe) c.484A>T (p.Ile162Phe) c.514A>T (p.Ile172Phe) n.502A>T c.535A>T (p.Ile179Phe) | |
| X | g.19351390T>A | CA412391312 | PDHA1 | c.422T>A (p.Ile141Asn) c.401T>A (p.Ile134Asn) c.485T>A (p.Ile162Asn) c.515T>A (p.Ile172Asn) n.503T>A c.536T>A (p.Ile179Asn) | |
| X | g.19351390T>C | CA412391314 | PDHA1 | c.422T>C (p.Ile141Thr) c.401T>C (p.Ile134Thr) c.485T>C (p.Ile162Thr) c.515T>C (p.Ile172Thr) n.503T>C c.536T>C (p.Ile179Thr) | |
| X | g.19351390T>G | CA412391322 | PDHA1 | c.422T>G (p.Ile141Ser) c.401T>G (p.Ile134Ser) c.485T>G (p.Ile162Ser) c.515T>G (p.Ile172Ser) n.503T>G c.536T>G (p.Ile179Ser) | |
| X | g.19351391T>A | CA515485687 | PDHA1 | c.423T>A (p.Ile141=) c.402T>A (p.Ile134=) c.486T>A (p.Ile162=) c.516T>A (p.Ile172=) n.504T>A c.537T>A (p.Ile179=) | |
| X | g.19351391T>C | CA515485684 | PDHA1 | c.423T>C (p.Ile141=) c.402T>C (p.Ile134=) c.486T>C (p.Ile162=) c.516T>C (p.Ile172=) n.504T>C c.537T>C (p.Ile179=) | gnomAD v4 |
| X | g.19351391T>G | CA412391325 | PDHA1 | c.423T>G (p.Ile141Met) c.402T>G (p.Ile134Met) c.486T>G (p.Ile162Met) c.516T>G (p.Ile172Met) n.504T>G c.537T>G (p.Ile179Met) | |
| X | g.19351392C>A | CA412391331 | PDHA1 | c.424C>A (p.Leu142Ile) c.403C>A (p.Leu135Ile) c.487C>A (p.Leu163Ile) c.517C>A (p.Leu173Ile) n.505C>A c.538C>A (p.Leu180Ile) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19351392C>G | CA412391333 | PDHA1 | c.424C>G (p.Leu142Val) c.403C>G (p.Leu135Val) c.487C>G (p.Leu163Val) c.517C>G (p.Leu173Val) n.505C>G c.538C>G (p.Leu180Val) | |
| X | g.19351392C>T | CA412391338 | PDHA1 | c.424C>T (p.Leu142Phe) c.403C>T (p.Leu135Phe) c.487C>T (p.Leu163Phe) c.517C>T (p.Leu173Phe) n.505C>T c.538C>T (p.Leu180Phe) | |
| X | g.19351393T>A | CA412391342 | PDHA1 | c.425T>A (p.Leu142His) c.404T>A (p.Leu135His) c.488T>A (p.Leu163His) c.518T>A (p.Leu173His) n.506T>A c.539T>A (p.Leu180His) | |
| X | g.19351393T>C | CA412391344 | PDHA1 | c.425T>C (p.Leu142Pro) c.404T>C (p.Leu135Pro) c.488T>C (p.Leu163Pro) c.518T>C (p.Leu173Pro) n.506T>C c.539T>C (p.Leu180Pro) | |
| X | g.19351393T>G | CA412391347 | PDHA1 | c.425T>G (p.Leu142Arg) c.404T>G (p.Leu135Arg) c.488T>G (p.Leu163Arg) c.518T>G (p.Leu173Arg) n.506T>G c.539T>G (p.Leu180Arg) | |
| X | g.19351394C>A | CA515485693 | PDHA1 | c.426C>A (p.Leu142=) c.405C>A (p.Leu135=) c.489C>A (p.Leu163=) c.519C>A (p.Leu173=) n.507C>A c.540C>A (p.Leu180=) | |
| X | g.19351394C= | CA2418222127 | PDHA1 | c.426C= (p.Leu142=) c.405C= (p.Leu135=) c.489C= (p.Leu163=) c.519C= (p.Leu173=) n.507C= c.540C= (p.Leu180=) | |
| X | g.19351394C>G | CA515485695 | PDHA1 | c.426C>G (p.Leu142=) c.405C>G (p.Leu135=) c.489C>G (p.Leu163=) c.519C>G (p.Leu173=) n.507C>G c.540C>G (p.Leu180=) | gnomAD v4 |
| X | g.19351394C>T | CA515485696 | PDHA1 | c.426C>T (p.Leu142=) c.405C>T (p.Leu135=) c.489C>T (p.Leu163=) c.519C>T (p.Leu173=) n.507C>T c.540C>T (p.Leu180=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.19351395G>A | CA10363031 | PDHA1 | c.427G>A (p.Ala143Thr) c.406G>A (p.Ala136Thr) c.490G>A (p.Ala164Thr) c.520G>A (p.Ala174Thr) n.508G>A c.541G>A (p.Ala181Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.19351395G>C | CA412391354 | PDHA1 | c.427G>C (p.Ala143Pro) c.406G>C (p.Ala136Pro) c.490G>C (p.Ala164Pro) c.520G>C (p.Ala174Pro) n.508G>C c.541G>C (p.Ala181Pro) | |
| X | g.19351395G= | CA2418222128 | PDHA1 | c.427G= (p.Ala143=) c.406G= (p.Ala136=) c.490G= (p.Ala164=) c.520G= (p.Ala174=) n.508G= c.541G= (p.Ala181=) | |
| X | g.19351395G>T | CA412391351 | PDHA1 | c.427G>T (p.Ala143Ser) c.406G>T (p.Ala136Ser) c.490G>T (p.Ala164Ser) c.520G>T (p.Ala174Ser) n.508G>T c.541G>T (p.Ala181Ser) | |
| X | g.19351396C>A | CA412391360 | PDHA1 | c.428C>A (p.Ala143Glu) c.407C>A (p.Ala136Glu) c.491C>A (p.Ala164Glu) c.521C>A (p.Ala174Glu) n.509C>A c.542C>A (p.Ala181Glu) | |
| X | g.19351396C>G | CA412391363 | PDHA1 | c.428C>G (p.Ala143Gly) c.407C>G (p.Ala136Gly) c.491C>G (p.Ala164Gly) c.521C>G (p.Ala174Gly) n.509C>G c.542C>G (p.Ala181Gly) | gnomAD v4 |
| X | g.19351396C>T | CA412391368 | PDHA1 | c.428C>T (p.Ala143Val) c.407C>T (p.Ala136Val) c.491C>T (p.Ala164Val) c.521C>T (p.Ala174Val) n.509C>T c.542C>T (p.Ala181Val) | |
| X | g.19351397A>C | CA515485703 | PDHA1 | c.429A>C (p.Ala143=) c.408A>C (p.Ala136=) c.492A>C (p.Ala164=) c.522A>C (p.Ala174=) n.510A>C c.543A>C (p.Ala181=) | |
| X | g.19351397A>G | CA515485705 | PDHA1 | c.429A>G (p.Ala143=) c.408A>G (p.Ala136=) c.492A>G (p.Ala164=) c.522A>G (p.Ala174=) n.510A>G c.543A>G (p.Ala181=) | |
| X | g.19351397A>T | CA515485707 | PDHA1 | c.429A>T (p.Ala143=) c.408A>T (p.Ala136=) c.492A>T (p.Ala164=) c.522A>T (p.Ala174=) n.510A>T c.543A>T (p.Ala181=) | |
| X | g.19351398G>A | CA412391372 | PDHA1 | c.430G>A (p.Glu144Lys) c.409G>A (p.Glu137Lys) c.493G>A (p.Glu165Lys) c.523G>A (p.Glu175Lys) n.511G>A c.544G>A (p.Glu182Lys) | ClinVar dbSNP |
| X | g.19351398G>C | CA412391376 | PDHA1 | c.430G>C (p.Glu144Gln) c.409G>C (p.Glu137Gln) c.493G>C (p.Glu165Gln) c.523G>C (p.Glu175Gln) n.511G>C c.544G>C (p.Glu182Gln) | |
| X | g.19351398G= | CA2418222129 | PDHA1 | c.430G= (p.Glu144=) c.409G= (p.Glu137=) c.493G= (p.Glu165=) c.523G= (p.Glu175=) n.511G= c.544G= (p.Glu182=) | |
| X | g.19351398G>T | CA412391378 | PDHA1 | c.430G>T (p.Glu144Ter) c.409G>T (p.Glu137Ter) c.493G>T (p.Glu165Ter) c.523G>T (p.Glu175Ter) n.511G>T c.544G>T (p.Glu182Ter) | |
| X | g.19351399A>C | CA412391388 | PDHA1 | c.431A>C (p.Glu144Ala) c.410A>C (p.Glu137Ala) c.494A>C (p.Glu165Ala) c.524A>C (p.Glu175Ala) n.512A>C c.545A>C (p.Glu182Ala) | |
| X | g.19351399A>G | CA412391382 | PDHA1 | c.431A>G (p.Glu144Gly) c.410A>G (p.Glu137Gly) c.494A>G (p.Glu165Gly) c.524A>G (p.Glu175Gly) n.512A>G c.545A>G (p.Glu182Gly) | |
| X | g.19351399A>T | CA412391385 | PDHA1 | c.431A>T (p.Glu144Val) c.410A>T (p.Glu137Val) c.494A>T (p.Glu165Val) c.524A>T (p.Glu175Val) n.512A>T c.545A>T (p.Glu182Val) |