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.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) | |
X | g.19351400G>A | CA515485713 | PDHA1 | c.432G>A (p.Glu144=) c.411G>A (p.Glu137=) c.495G>A (p.Glu165=) c.525G>A (p.Glu175=) n.513G>A c.546G>A (p.Glu182=) | ClinVar dbSNP gnomAD v2 |
X | g.19351400G>C | CA412391392 | PDHA1 | c.432G>C (p.Glu144Asp) c.411G>C (p.Glu137Asp) c.495G>C (p.Glu165Asp) c.525G>C (p.Glu175Asp) n.513G>C c.546G>C (p.Glu182Asp) | |
X | g.19351400G= | CA2418222130 | PDHA1 | c.432G= (p.Glu144=) c.411G= (p.Glu137=) c.495G= (p.Glu165=) c.525G= (p.Glu175=) n.513G= c.546G= (p.Glu182=) | |
X | g.19351400G>T | CA412391394 | PDHA1 | c.432G>T (p.Glu144Asp) c.411G>T (p.Glu137Asp) c.495G>T (p.Glu165Asp) c.525G>T (p.Glu175Asp) n.513G>T c.546G>T (p.Glu182Asp) | |
X | g.19351401C>A | CA412391397 | PDHA1 | c.433C>A (p.Leu145Ile) c.412C>A (p.Leu138Ile) c.496C>A (p.Leu166Ile) c.526C>A (p.Leu176Ile) n.514C>A c.547C>A (p.Leu183Ile) | |
X | g.19351401C>G | CA412391399 | PDHA1 | c.433C>G (p.Leu145Val) c.412C>G (p.Leu138Val) c.496C>G (p.Leu166Val) c.526C>G (p.Leu176Val) n.514C>G c.547C>G (p.Leu183Val) | |
X | g.19351401C>T | CA412391402 | PDHA1 | c.433C>T (p.Leu145Phe) c.412C>T (p.Leu138Phe) c.496C>T (p.Leu166Phe) c.526C>T (p.Leu176Phe) n.514C>T c.547C>T (p.Leu183Phe) | |
X | g.19351402T>A | CA412391409 | PDHA1 | c.434T>A (p.Leu145His) c.413T>A (p.Leu138His) c.497T>A (p.Leu166His) c.527T>A (p.Leu176His) n.515T>A c.548T>A (p.Leu183His) | |
X | g.19351402T>C | CA412391415 | PDHA1 | c.434T>C (p.Leu145Pro) c.413T>C (p.Leu138Pro) c.497T>C (p.Leu166Pro) c.527T>C (p.Leu176Pro) n.515T>C c.548T>C (p.Leu183Pro) | |
X | g.19351402T>G | CA412391411 | PDHA1 | c.434T>G (p.Leu145Arg) c.413T>G (p.Leu138Arg) c.497T>G (p.Leu166Arg) c.527T>G (p.Leu176Arg) n.515T>G c.548T>G (p.Leu183Arg) | |
X | g.19351403del | CA2579566226 | PDHA1 | c.435del (p.Thr146GlnfsTer?) c.414del (p.Thr139GlnfsTer?) c.498del (p.Thr167GlnfsTer?) c.528del (p.Thr177GlnfsTer?) n.516del c.549del (p.Thr184GlnfsTer?) | |
X | g.19351403T>A | CA515485720 | PDHA1 | c.435T>A (p.Leu145=) c.414T>A (p.Leu138=) c.498T>A (p.Leu166=) c.528T>A (p.Leu176=) n.516T>A c.549T>A (p.Leu183=) | |
X | g.19351403T>C | CA515485723 | PDHA1 | c.435T>C (p.Leu145=) c.414T>C (p.Leu138=) c.498T>C (p.Leu166=) c.528T>C (p.Leu176=) n.516T>C c.549T>C (p.Leu183=) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.19351403T>G | CA515485722 | PDHA1 | c.435T>G (p.Leu145=) c.414T>G (p.Leu138=) c.498T>G (p.Leu166=) c.528T>G (p.Leu176=) n.516T>G c.549T>G (p.Leu183=) | |
X | g.19351404A>C | CA412391421 | PDHA1 | c.436A>C (p.Thr146Pro) c.415A>C (p.Thr139Pro) c.499A>C (p.Thr167Pro) c.529A>C (p.Thr177Pro) n.517A>C c.550A>C (p.Thr184Pro) | |
X | g.19351404A>G | CA412391423 | PDHA1 | c.436A>G (p.Thr146Ala) c.415A>G (p.Thr139Ala) c.499A>G (p.Thr167Ala) c.529A>G (p.Thr177Ala) n.517A>G c.550A>G (p.Thr184Ala) | |
X | g.19351404A>T | CA412391426 | PDHA1 | c.436A>T (p.Thr146Ser) c.415A>T (p.Thr139Ser) c.499A>T (p.Thr167Ser) c.529A>T (p.Thr177Ser) n.517A>T c.550A>T (p.Thr184Ser) | |
X | g.19351405C>A | CA412391431 | PDHA1 | c.437C>A (p.Thr146Lys) c.416C>A (p.Thr139Lys) c.500C>A (p.Thr167Lys) c.530C>A (p.Thr177Lys) n.518C>A c.551C>A (p.Thr184Lys) | gnomAD v4 |
X | g.19351405C>G | CA412391433 | PDHA1 | c.437C>G (p.Thr146Arg) c.416C>G (p.Thr139Arg) c.500C>G (p.Thr167Arg) c.530C>G (p.Thr177Arg) n.518C>G c.551C>G (p.Thr184Arg) | |
X | g.19351405C>T | CA412391436 | PDHA1 | c.437C>T (p.Thr146Ile) c.416C>T (p.Thr139Ile) c.500C>T (p.Thr167Ile) c.530C>T (p.Thr177Ile) n.518C>T c.551C>T (p.Thr184Ile) | |
X | g.19351406A>C | CA515485729 | PDHA1 | c.438A>C (p.Thr146=) c.417A>C (p.Thr139=) c.501A>C (p.Thr167=) c.531A>C (p.Thr177=) n.519A>C c.552A>C (p.Thr184=) | |
X | g.19351406A>G | CA515485731 | PDHA1 | c.438A>G (p.Thr146=) c.417A>G (p.Thr139=) c.501A>G (p.Thr167=) c.531A>G (p.Thr177=) n.519A>G c.552A>G (p.Thr184=) | COSMIC COSMIC COSMIC COSMIC |
X | g.19351406A>T | CA515485733 | PDHA1 | c.438A>T (p.Thr146=) c.417A>T (p.Thr139=) c.501A>T (p.Thr167=) c.531A>T (p.Thr177=) n.519A>T c.552A>T (p.Thr184=) | |
X | g.19351407G>A | CA412391441 | PDHA1 | c.439G>A (p.Gly147Arg) c.418G>A (p.Gly140Arg) c.502G>A (p.Gly168Arg) c.532G>A (p.Gly178Arg) c.418G>A (p.Gly140Ser) n.520G>A c.553G>A (p.Gly185Arg) | |
X | g.19351407G>C | CA412391444 | PDHA1 | c.439G>C (p.Gly147Arg) c.418G>C (p.Gly140Arg) c.502G>C (p.Gly168Arg) c.532G>C (p.Gly178Arg) n.520G>C c.553G>C (p.Gly185Arg) | |
X | g.19351407G>T | CA412391446 | PDHA1 | c.439G>T (p.Gly147Ter) c.418G>T (p.Gly140Ter) c.502G>T (p.Gly168Ter) c.532G>T (p.Gly178Ter) c.418G>T (p.Gly140Trp) c.418G>T (p.Gly140Cys) n.520G>T c.553G>T (p.Gly185Ter) | |
X | g.19351408G>A | CA412391451 | PDHA1 | c.439+1G>A (n.439+1G>A) c.418+1G>A (n.418+1G>A) c.502+1G>A (n.502+1G>A) c.532+1G>A (n.532+1G>A) n.521G>A c.553+1G>A (n.553+1G>A) | |
X | g.19351408G>C | CA412391453 | PDHA1 | c.439+1G>C (n.439+1G>C) c.418+1G>C (n.418+1G>C) c.502+1G>C (n.502+1G>C) c.532+1G>C (n.532+1G>C) n.521G>C c.553+1G>C (n.553+1G>C) | |
X | g.19351408G>T | CA412391456 | PDHA1 | c.439+1G>T (n.439+1G>T) c.418+1G>T (n.418+1G>T) c.502+1G>T (n.502+1G>T) c.532+1G>T (n.532+1G>T) n.521G>T c.553+1G>T (n.553+1G>T) | |
X | g.19351409T>A | CA412391466 | PDHA1 | c.439+2T>A (n.439+2T>A) c.418+2T>A (n.418+2T>A) c.502+2T>A (n.502+2T>A) c.532+2T>A (n.532+2T>A) n.522T>A c.553+2T>A (n.553+2T>A) | |
X | g.19351409T>C | CA412391469 | PDHA1 | c.439+2T>C (n.439+2T>C) c.418+2T>C (n.418+2T>C) c.502+2T>C (n.502+2T>C) c.532+2T>C (n.532+2T>C) n.522T>C c.553+2T>C (n.553+2T>C) | |
X | g.19351409T>G | CA412391464 | PDHA1 | c.439+2T>G (n.439+2T>G) c.418+2T>G (n.418+2T>G) c.502+2T>G (n.502+2T>G) c.532+2T>G (n.532+2T>G) n.522T>G c.553+2T>G (n.553+2T>G) | |
X | g.19351411T>C | CA640521258 | PDHA1 | c.439+4T>C (n.439+4T>C) c.418+4T>C (n.418+4T>C) c.502+4T>C (n.502+4T>C) c.532+4T>C (n.532+4T>C) n.524T>C c.553+4T>C (n.553+4T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19351411T= | CA2418222131 | PDHA1 | c.439+4T= (n.439+4T=) c.418+4T= (n.418+4T=) c.502+4T= (n.502+4T=) c.532+4T= (n.532+4T=) n.524T= c.553+4T= (n.553+4T=) | |
X | g.19351412G>C | CA2819936436 | PDHA1 | c.439+5G>C (n.439+5G>C) c.418+5G>C (n.418+5G>C) c.502+5G>C (n.502+5G>C) c.532+5G>C (n.532+5G>C) n.525G>C c.553+5G>C (n.553+5G>C) | |
X | g.19351413C>A | CA2579566227 | PDHA1 | c.439+6C>A (n.439+6C>A) c.418+6C>A (n.418+6C>A) c.502+6C>A (n.502+6C>A) c.532+6C>A (n.532+6C>A) n.526C>A c.553+6C>A (n.553+6C>A) | |
X | g.19351414T>C | CA2693249840 | PDHA1 | c.439+7T>C (n.439+7T>C) c.418+7T>C (n.418+7T>C) c.502+7T>C (n.502+7T>C) c.532+7T>C (n.532+7T>C) n.527T>C c.553+7T>C (n.553+7T>C) | gnomAD v4 |
X | g.19351415G>A | CA10363032 | PDHA1 | c.439+8G>A (n.439+8G>A) c.418+8G>A (n.418+8G>A) c.502+8G>A (n.502+8G>A) c.532+8G>A (n.532+8G>A) n.528G>A c.553+8G>A (n.553+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19351415G>C | CA873736538 | PDHA1 | c.439+8G>C (n.439+8G>C) c.418+8G>C (n.418+8G>C) c.502+8G>C (n.502+8G>C) c.532+8G>C (n.532+8G>C) n.528G>C c.553+8G>C (n.553+8G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.19351415G= | CA2418222132 | PDHA1 | c.439+8G= (n.439+8G=) c.418+8G= (n.418+8G=) c.502+8G= (n.502+8G=) c.532+8G= (n.532+8G=) n.528G= c.553+8G= (n.553+8G=) | |
X | g.19351418_19351420del | CA2693249841 | PDHA1 | c.439+11_439+13del (n.439+11_439+13del) c.418+11_418+13del (n.418+11_418+13del) c.502+11_502+13del (n.502+11_502+13del) c.532+11_532+13del (n.532+11_532+13del) n.531_533del c.553+11_553+13del (n.553+11_553+13del) | gnomAD v4 |
X | g.19351422del | CA2693249842 | PDHA1 | c.439+15del (n.439+15del) c.418+15del (n.418+15del) c.502+15del (n.502+15del) c.532+15del (n.532+15del) n.535del c.553+15del (n.553+15del) | gnomAD v4 |
X | g.19351421T>A | CA2542855819 | PDHA1 | c.439+14T>A (n.439+14T>A) c.418+14T>A (n.418+14T>A) c.502+14T>A (n.502+14T>A) c.532+14T>A (n.532+14T>A) n.534T>A c.553+14T>A (n.553+14T>A) | |
X | g.19351422T>A | CA2418222133 | PDHA1 | c.439+15T>A (n.439+15T>A) c.418+15T>A (n.418+15T>A) c.502+15T>A (n.502+15T>A) c.532+15T>A (n.532+15T>A) n.535T>A c.553+15T>A (n.553+15T>A) | dbSNP gnomAD v4 |
X | g.19351422T>C | CA2819936438 | PDHA1 | c.439+15T>C (n.439+15T>C) c.418+15T>C (n.418+15T>C) c.502+15T>C (n.502+15T>C) c.532+15T>C (n.532+15T>C) n.535T>C c.553+15T>C (n.553+15T>C) | |
X | g.19351422T= | CA2418222134 | PDHA1 | c.439+15T= (n.439+15T=) c.418+15T= (n.418+15T=) c.502+15T= (n.502+15T=) c.532+15T= (n.532+15T=) n.535T= c.553+15T= (n.553+15T=) | |
X | g.19351424C>A | CA2693249843 | PDHA1 | c.439+17C>A (n.439+17C>A) c.418+17C>A (n.418+17C>A) c.502+17C>A (n.502+17C>A) c.532+17C>A (n.532+17C>A) n.537C>A c.553+17C>A (n.553+17C>A) | gnomAD v4 |
X | g.19351426G>A | CA2693249844 | PDHA1 | c.439+19G>A (n.439+19G>A) c.418+19G>A (n.418+19G>A) c.502+19G>A (n.502+19G>A) c.532+19G>A (n.532+19G>A) n.539G>A c.553+19G>A (n.553+19G>A) | gnomAD v4 |
X | g.19351426G>T | CA2506913892 | PDHA1 | c.439+19G>T (n.439+19G>T) c.418+19G>T (n.418+19G>T) c.502+19G>T (n.502+19G>T) c.532+19G>T (n.532+19G>T) n.539G>T c.553+19G>T (n.553+19G>T) | |
X | g.19351428A>G | CA2693249845 | PDHA1 | c.439+21A>G (n.439+21A>G) c.418+21A>G (n.418+21A>G) c.502+21A>G (n.502+21A>G) c.532+21A>G (n.532+21A>G) n.541A>G c.553+21A>G (n.553+21A>G) | gnomAD v4 |
X | g.19351433del | CA2693249846 | PDHA1 | c.439+26del (n.439+26del) c.418+26del (n.418+26del) c.502+26del (n.502+26del) c.532+26del (n.532+26del) n.546del c.553+26del (n.553+26del) | gnomAD v4 |
X | g.19351432G>A | CA2418222136 | PDHA1 | c.439+25G>A (n.439+25G>A) c.418+25G>A (n.418+25G>A) c.502+25G>A (n.502+25G>A) c.532+25G>A (n.532+25G>A) n.545G>A c.553+25G>A (n.553+25G>A) | dbSNP gnomAD v4 |
X | g.19351432G= | CA2418222135 | PDHA1 | c.439+25G= (n.439+25G=) c.418+25G= (n.418+25G=) c.502+25G= (n.502+25G=) c.532+25G= (n.532+25G=) n.545G= c.553+25G= (n.553+25G=) | |
X | g.19351433G>A | CA2531052471 | PDHA1 | c.439+26G>A (n.439+26G>A) c.418+26G>A (n.418+26G>A) c.502+26G>A (n.502+26G>A) c.532+26G>A (n.532+26G>A) n.546G>A c.553+26G>A (n.553+26G>A) | gnomAD v4 |
X | g.19351434A>G | CA2819936440 | PDHA1 | c.439+27A>G (n.439+27A>G) c.418+27A>G (n.418+27A>G) c.502+27A>G (n.502+27A>G) c.532+27A>G (n.532+27A>G) n.547A>G c.553+27A>G (n.553+27A>G) | |
X | g.19351438G>A | CA2506127265 | PDHA1 | c.439+31G>A (n.439+31G>A) c.418+31G>A (n.418+31G>A) c.502+31G>A (n.502+31G>A) c.532+31G>A (n.532+31G>A) n.551G>A c.553+31G>A (n.553+31G>A) | |
X | g.19351439A>G | CA2693249847 | PDHA1 | c.439+32A>G (n.439+32A>G) c.418+32A>G (n.418+32A>G) c.502+32A>G (n.502+32A>G) c.532+32A>G (n.532+32A>G) n.552A>G c.553+32A>G (n.553+32A>G) | gnomAD v4 |
X | g.19351440G>A | CA2693249848 | PDHA1 | c.439+33G>A (n.439+33G>A) c.418+33G>A (n.418+33G>A) c.502+33G>A (n.502+33G>A) c.532+33G>A (n.532+33G>A) n.553G>A c.553+33G>A (n.553+33G>A) | gnomAD v4 |
X | g.19351441T>C | CA2693249849 | PDHA1 | c.439+34T>C (n.439+34T>C) c.418+34T>C (n.418+34T>C) c.502+34T>C (n.502+34T>C) c.532+34T>C (n.532+34T>C) n.554T>C c.553+34T>C (n.553+34T>C) | gnomAD v4 |
X | g.19351441T>G | CA10363033 | PDHA1 | c.439+34T>G (n.439+34T>G) c.418+34T>G (n.418+34T>G) c.502+34T>G (n.502+34T>G) c.532+34T>G (n.532+34T>G) n.554T>G c.553+34T>G (n.553+34T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.19351441T= | CA2418222137 | PDHA1 | c.439+34T= (n.439+34T=) c.418+34T= (n.418+34T=) c.502+34T= (n.502+34T=) c.532+34T= (n.532+34T=) n.554T= c.553+34T= (n.553+34T=) | |
X | g.19351442G>A | CA2504608840 | PDHA1 | c.439+35G>A (n.439+35G>A) c.418+35G>A (n.418+35G>A) c.502+35G>A (n.502+35G>A) c.532+35G>A (n.532+35G>A) n.555G>A c.553+35G>A (n.553+35G>A) | gnomAD v4 |
X | g.19351443del | CA2579566228 | PDHA1 | c.439+36del (n.439+36del) c.418+36del (n.418+36del) c.502+36del (n.502+36del) c.532+36del (n.532+36del) n.556del c.553+36del (n.553+36del) | |
X | g.19351442_19351470delinsGGATTAAGTTTTTAAATATCTGTCATTAA | CA2418222138 | PDHA1 | c.439+35_439+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA (n.439+35_439+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA) c.418+35_418+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA (n.418+35_418+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA) c.502+35_502+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA (n.502+35_502+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA) c.532+35_532+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA (n.532+35_532+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA) n.555_583delinsGGATTAAGTTTTTAAATATCTGTCATTAA c.553+35_553+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA (n.553+35_553+63delinsGGATTAAGTTTTTAAATATCTGTCATTAA) | |
X | g.19351443G>A | CA2504332972 | PDHA1 | c.439+36G>A (n.439+36G>A) c.418+36G>A (n.418+36G>A) c.502+36G>A (n.502+36G>A) c.532+36G>A (n.532+36G>A) n.556G>A c.553+36G>A (n.553+36G>A) | gnomAD v4 |
X | g.19351446_19351473del | CA873736571 | PDHA1 | c.439+39_439+66del (n.439+39_439+66del) c.418+39_418+66del (n.418+39_418+66del) c.502+39_502+66del (n.502+39_502+66del) c.532+39_532+66del (n.532+39_532+66del) n.559_586del c.553+39_553+66del (n.553+39_553+66del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.19351445T>C | CA2693249850 | PDHA1 | c.439+38T>C (n.439+38T>C) c.418+38T>C (n.418+38T>C) c.502+38T>C (n.502+38T>C) c.532+38T>C (n.532+38T>C) n.558T>C c.553+38T>C (n.553+38T>C) | gnomAD v4 |
X | g.19351446T>C | CA2693249851 | PDHA1 | c.439+39T>C (n.439+39T>C) c.418+39T>C (n.418+39T>C) c.502+39T>C (n.502+39T>C) c.532+39T>C (n.532+39T>C) n.559T>C c.553+39T>C (n.553+39T>C) | gnomAD v4 |
X | g.19351447A= | CA2418222139 | PDHA1 | c.439+40A= (n.439+40A=) c.418+40A= (n.418+40A=) c.502+40A= (n.502+40A=) c.532+40A= (n.532+40A=) n.560A= c.553+40A= (n.553+40A=) | |
X | g.19351447A>G | CA10363034 | PDHA1 | c.439+40A>G (n.439+40A>G) c.418+40A>G (n.418+40A>G) c.502+40A>G (n.502+40A>G) c.532+40A>G (n.532+40A>G) n.560A>G c.553+40A>G (n.553+40A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19351448A>G | CA2819936441 | PDHA1 | c.439+41A>G (n.439+41A>G) c.418+41A>G (n.418+41A>G) c.502+41A>G (n.502+41A>G) c.532+41A>G (n.532+41A>G) n.561A>G c.553+41A>G (n.553+41A>G) | |
X | g.19351450T>A | CA2579566229 | PDHA1 | c.439+43T>A (n.439+43T>A) c.418+43T>A (n.418+43T>A) c.502+43T>A (n.502+43T>A) c.532+43T>A (n.532+43T>A) n.563T>A c.553+43T>A (n.553+43T>A) | |
X | g.19351450T>C | CA10363035 | PDHA1 | c.439+43T>C (n.439+43T>C) c.418+43T>C (n.418+43T>C) c.502+43T>C (n.502+43T>C) c.532+43T>C (n.532+43T>C) n.563T>C c.553+43T>C (n.553+43T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19351450T= | CA2418222140 | PDHA1 | c.439+43T= (n.439+43T=) c.418+43T= (n.418+43T=) c.502+43T= (n.502+43T=) c.532+43T= (n.532+43T=) n.563T= c.553+43T= (n.553+43T=) | |
X | g.19351453T>G | CA10363036 | PDHA1 | c.439+46T>G (n.439+46T>G) c.418+46T>G (n.418+46T>G) c.502+46T>G (n.502+46T>G) c.532+46T>G (n.532+46T>G) n.566T>G c.553+46T>G (n.553+46T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.19351453T= | CA2418222141 | PDHA1 | c.439+46T= (n.439+46T=) c.418+46T= (n.418+46T=) c.502+46T= (n.502+46T=) c.532+46T= (n.532+46T=) n.566T= c.553+46T= (n.553+46T=) | |
X | g.19351454T>C | CA2693249852 | PDHA1 | c.439+47T>C (n.439+47T>C) c.418+47T>C (n.418+47T>C) c.502+47T>C (n.502+47T>C) c.532+47T>C (n.532+47T>C) n.567T>C c.553+47T>C (n.553+47T>C) | gnomAD v4 |
X | g.19351456A>G | CA2693249853 | PDHA1 | c.439+49A>G (n.439+49A>G) c.418+49A>G (n.418+49A>G) c.502+49A>G (n.502+49A>G) c.532+49A>G (n.532+49A>G) n.569A>G c.553+49A>G (n.553+49A>G) | gnomAD v4 |
X | g.19351457A= | CA2418222142 | PDHA1 | c.439+50A= (n.439+50A=) c.418+50A= (n.418+50A=) c.502+50A= (n.502+50A=) c.532+50A= (n.532+50A=) n.570A= c.553+50A= (n.553+50A=) | |
X | g.19351457A>G | CA640521263 | PDHA1 | c.439+50A>G (n.439+50A>G) c.418+50A>G (n.418+50A>G) c.502+50A>G (n.502+50A>G) c.532+50A>G (n.532+50A>G) n.570A>G c.553+50A>G (n.553+50A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.19351458T>C | CA2693249854 | PDHA1 | c.439+51T>C (n.439+51T>C) c.418+51T>C (n.418+51T>C) c.502+51T>C (n.502+51T>C) c.532+51T>C (n.532+51T>C) n.571T>C c.553+51T>C (n.553+51T>C) | gnomAD v4 |
X | g.19351460T>C | CA2693249855 | PDHA1 | c.439+53T>C (n.439+53T>C) c.418+53T>C (n.418+53T>C) c.502+53T>C (n.502+53T>C) c.532+53T>C (n.532+53T>C) n.573T>C c.553+53T>C (n.553+53T>C) | gnomAD v4 |
X | g.19351461C>A | CA2693249856 | PDHA1 | c.439+54C>A (n.439+54C>A) c.418+54C>A (n.418+54C>A) c.502+54C>A (n.502+54C>A) c.532+54C>A (n.532+54C>A) n.574C>A c.553+54C>A (n.553+54C>A) | gnomAD v4 |
X | g.19351461C>G | CA2693249857 | PDHA1 | c.439+54C>G (n.439+54C>G) c.418+54C>G (n.418+54C>G) c.502+54C>G (n.502+54C>G) c.532+54C>G (n.532+54C>G) n.574C>G c.553+54C>G (n.553+54C>G) | gnomAD v4 |
X | g.19351463G>A | CA2693249858 | PDHA1 | c.439+56G>A (n.439+56G>A) c.418+56G>A (n.418+56G>A) c.502+56G>A (n.502+56G>A) c.532+56G>A (n.532+56G>A) n.576G>A c.553+56G>A (n.553+56G>A) | gnomAD v4 |
X | g.19351464T>C | CA2693249859 | PDHA1 | c.439+57T>C (n.439+57T>C) c.418+57T>C (n.418+57T>C) c.502+57T>C (n.502+57T>C) c.532+57T>C (n.532+57T>C) n.577T>C c.553+57T>C (n.553+57T>C) | gnomAD v4 |
X | g.19351465C>A | CA2693249860 | PDHA1 | c.439+58C>A (n.439+58C>A) c.418+58C>A (n.418+58C>A) c.502+58C>A (n.502+58C>A) c.532+58C>A (n.532+58C>A) n.578C>A c.553+58C>A (n.553+58C>A) | gnomAD v4 |
X | g.19351465C>T | CA2579566230 | PDHA1 | c.439+58C>T (n.439+58C>T) c.418+58C>T (n.418+58C>T) c.502+58C>T (n.502+58C>T) c.532+58C>T (n.532+58C>T) n.578C>T c.553+58C>T (n.553+58C>T) | |
X | g.19351467T>C | CA2579566231 | PDHA1 | c.439+60T>C (n.439+60T>C) c.418+60T>C (n.418+60T>C) c.502+60T>C (n.502+60T>C) c.532+60T>C (n.532+60T>C) n.580T>C c.553+60T>C (n.553+60T>C) | gnomAD v4 |