| 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.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) |