| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19353085G>A | CA203852 | PDHA1 | c.443G>A (p.Arg148Gln) c.422G>A (p.Arg141Gln) c.506G>A (p.Arg169Gln) c.536G>A (p.Arg179Gln) c.418+1678G>A (n.418+1678G>A) c.419-1406G>A (n.419-1406G>A) n.257G>A c.557G>A (p.Arg186Gln) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19353085G>C | CA412392954 | PDHA1 | c.443G>C (p.Arg148Pro) c.422G>C (p.Arg141Pro) c.506G>C (p.Arg169Pro) c.536G>C (p.Arg179Pro) c.418+1678G>C (n.418+1678G>C) c.419-1406G>C (n.419-1406G>C) n.257G>C c.557G>C (p.Arg186Pro) | |
| X | g.19353085G= | CA2418222781 | PDHA1 | c.443G= (p.Arg148=) c.422G= (p.Arg141=) c.506G= (p.Arg169=) c.536G= (p.Arg179=) c.418+1678G= (n.418+1678G=) c.419-1406G= (n.419-1406G=) n.257G= c.557G= (p.Arg186=) | |
| X | g.19353085G>T | CA412392956 | PDHA1 | c.443G>T (p.Arg148Leu) c.422G>T (p.Arg141Leu) c.506G>T (p.Arg169Leu) c.536G>T (p.Arg179Leu) c.418+1678G>T (n.418+1678G>T) c.419-1406G>T (n.419-1406G>T) n.257G>T c.557G>T (p.Arg186Leu) | |
| X | g.19353086A>C | CA515485853 | PDHA1 | c.444A>C (p.Arg148=) c.423A>C (p.Arg141=) c.507A>C (p.Arg169=) c.537A>C (p.Arg179=) c.418+1679A>C (n.418+1679A>C) c.419-1405A>C (n.419-1405A>C) n.258A>C c.558A>C (p.Arg186=) | |
| X | g.19353086A>G | CA515485854 | PDHA1 | c.444A>G (p.Arg148=) c.423A>G (p.Arg141=) c.507A>G (p.Arg169=) c.537A>G (p.Arg179=) c.418+1679A>G (n.418+1679A>G) c.419-1405A>G (n.419-1405A>G) n.258A>G c.558A>G (p.Arg186=) | |
| X | g.19353086A>T | CA515485855 | PDHA1 | c.444A>T (p.Arg148=) c.423A>T (p.Arg141=) c.507A>T (p.Arg169=) c.537A>T (p.Arg179=) c.418+1679A>T (n.418+1679A>T) c.419-1405A>T (n.419-1405A>T) n.258A>T c.558A>T (p.Arg186=) | |
| X | g.19353089del | CA2693250105 | PDHA1 | c.447del (p.Gly150GlufsTer?) c.426del (p.Gly143GlufsTer29) c.510del (p.Gly171GlufsTer?) c.540del (p.Gly181GlufsTer?) c.418+1682del (n.418+1682del) c.419-1402del (n.419-1402del) c.426del (p.Gly143GlufsTer?) n.261del c.561del (p.Gly188GlufsTer?) | gnomAD v4 |
| X | g.19353087A= | CA2418222782 | PDHA1 | c.445A= (p.Lys149=) c.424A= (p.Lys142=) c.508A= (p.Lys170=) c.538A= (p.Lys180=) c.418+1680A= (n.418+1680A=) c.419-1404A= (n.419-1404A=) n.259A= c.559A= (p.Lys187=) | |
| X | g.19353087A>C | CA412392959 | PDHA1 | c.445A>C (p.Lys149Gln) c.424A>C (p.Lys142Gln) c.508A>C (p.Lys170Gln) c.538A>C (p.Lys180Gln) c.418+1680A>C (n.418+1680A>C) c.419-1404A>C (n.419-1404A>C) n.259A>C c.559A>C (p.Lys187Gln) | dbSNP |
| X | g.19353087A>G | CA412392961 | PDHA1 | c.445A>G (p.Lys149Glu) c.424A>G (p.Lys142Glu) c.508A>G (p.Lys170Glu) c.538A>G (p.Lys180Glu) c.418+1680A>G (n.418+1680A>G) c.419-1404A>G (n.419-1404A>G) n.259A>G c.559A>G (p.Lys187Glu) | |
| X | g.19353087A>T | CA412392963 | PDHA1 | c.445A>T (p.Lys149Ter) c.424A>T (p.Lys142Ter) c.508A>T (p.Lys170Ter) c.538A>T (p.Lys180Ter) c.418+1680A>T (n.418+1680A>T) c.419-1404A>T (n.419-1404A>T) n.259A>T c.559A>T (p.Lys187Ter) | |
| X | g.19353088A>C | CA412392965 | PDHA1 | c.446A>C (p.Lys149Thr) c.425A>C (p.Lys142Thr) c.509A>C (p.Lys170Thr) c.539A>C (p.Lys180Thr) c.418+1681A>C (n.418+1681A>C) c.419-1403A>C (n.419-1403A>C) n.260A>C c.560A>C (p.Lys187Thr) | ClinVar gnomAD v4 |
| X | g.19353088A>G | CA412392967 | PDHA1 | c.446A>G (p.Lys149Arg) c.425A>G (p.Lys142Arg) c.509A>G (p.Lys170Arg) c.539A>G (p.Lys180Arg) c.418+1681A>G (n.418+1681A>G) c.419-1403A>G (n.419-1403A>G) n.260A>G c.560A>G (p.Lys187Arg) | |
| X | g.19353088A>T | CA412392969 | PDHA1 | c.446A>T (p.Lys149Ile) c.425A>T (p.Lys142Ile) c.509A>T (p.Lys170Ile) c.539A>T (p.Lys180Ile) c.418+1681A>T (n.418+1681A>T) c.419-1403A>T (n.419-1403A>T) n.260A>T c.560A>T (p.Lys187Ile) | |
| X | g.19353089A>C | CA412392971 | PDHA1 | c.447A>C (p.Lys149Asn) c.426A>C (p.Lys142Asn) c.510A>C (p.Lys170Asn) c.540A>C (p.Lys180Asn) c.418+1682A>C (n.418+1682A>C) c.419-1402A>C (n.419-1402A>C) n.261A>C c.561A>C (p.Lys187Asn) | |
| X | g.19353089A>G | CA515485857 | PDHA1 | c.447A>G (p.Lys149=) c.426A>G (p.Lys142=) c.510A>G (p.Lys170=) c.540A>G (p.Lys180=) c.418+1682A>G (n.418+1682A>G) c.419-1402A>G (n.419-1402A>G) n.261A>G c.561A>G (p.Lys187=) | |
| X | g.19353089A>T | CA412392970 | PDHA1 | c.447A>T (p.Lys149Asn) c.426A>T (p.Lys142Asn) c.510A>T (p.Lys170Asn) c.540A>T (p.Lys180Asn) c.418+1682A>T (n.418+1682A>T) c.419-1402A>T (n.419-1402A>T) n.261A>T c.561A>T (p.Lys187Asn) | |
| X | g.19353092_19353094del | CA2695231639 | PDHA1 | c.450_452del (p.Gly151del) c.429_431del (p.Gly144del) c.513_515del (p.Gly172del) c.543_545del (p.Gly182del) c.418+1685_418+1687del (n.418+1685_418+1687del) c.419-1399_419-1397del (n.419-1399_419-1397del) n.264_266del c.564_566del (p.Gly189del) | |
| X | g.19353090G>A | CA16043706 | PDHA1 | c.448G>A (p.Gly150Arg) c.427G>A (p.Gly143Arg) c.511G>A (p.Gly171Arg) c.541G>A (p.Gly181Arg) c.418+1683G>A (n.418+1683G>A) c.419-1401G>A (n.419-1401G>A) n.262G>A c.562G>A (p.Gly188Arg) | ClinVar dbSNP |
| X | g.19353090G>C | CA412392972 | PDHA1 | c.448G>C (p.Gly150Arg) c.427G>C (p.Gly143Arg) c.511G>C (p.Gly171Arg) c.541G>C (p.Gly181Arg) c.418+1683G>C (n.418+1683G>C) c.419-1401G>C (n.419-1401G>C) n.262G>C c.562G>C (p.Gly188Arg) | |
| X | g.19353090G= | CA2418222783 | PDHA1 | c.448G= (p.Gly150=) c.427G= (p.Gly143=) c.511G= (p.Gly171=) c.541G= (p.Gly181=) c.418+1683G= (n.418+1683G=) c.419-1401G= (n.419-1401G=) n.262G= c.562G= (p.Gly188=) | |
| X | g.19353090G>T | CA412392973 | PDHA1 | c.448G>T (p.Gly150Ter) c.427G>T (p.Gly143Ter) c.511G>T (p.Gly171Ter) c.541G>T (p.Gly181Ter) c.418+1683G>T (n.418+1683G>T) c.419-1401G>T (n.419-1401G>T) n.262G>T c.562G>T (p.Gly188Ter) | |
| X | g.19353091G>A | CA412392975 | PDHA1 | c.449G>A (p.Gly150Glu) c.428G>A (p.Gly143Glu) c.512G>A (p.Gly171Glu) c.542G>A (p.Gly181Glu) c.418+1684G>A (n.418+1684G>A) c.419-1400G>A (n.419-1400G>A) n.263G>A c.563G>A (p.Gly188Glu) | |
| X | g.19353091G>C | CA412392978 | PDHA1 | c.449G>C (p.Gly150Ala) c.428G>C (p.Gly143Ala) c.512G>C (p.Gly171Ala) c.542G>C (p.Gly181Ala) c.418+1684G>C (n.418+1684G>C) c.419-1400G>C (n.419-1400G>C) n.263G>C c.563G>C (p.Gly188Ala) | |
| X | g.19353091G>T | CA412392981 | PDHA1 | c.449G>T (p.Gly150Val) c.428G>T (p.Gly143Val) c.512G>T (p.Gly171Val) c.542G>T (p.Gly181Val) c.418+1684G>T (n.418+1684G>T) c.419-1400G>T (n.419-1400G>T) n.263G>T c.563G>T (p.Gly188Val) | |
| X | g.19353092A>C | CA515485859 | PDHA1 | c.450A>C (p.Gly150=) c.429A>C (p.Gly143=) c.513A>C (p.Gly171=) c.543A>C (p.Gly181=) c.418+1685A>C (n.418+1685A>C) c.419-1399A>C (n.419-1399A>C) n.264A>C c.564A>C (p.Gly188=) | |
| X | g.19353092A>G | CA515485860 | PDHA1 | c.450A>G (p.Gly150=) c.429A>G (p.Gly143=) c.513A>G (p.Gly171=) c.543A>G (p.Gly181=) c.418+1685A>G (n.418+1685A>G) c.419-1399A>G (n.419-1399A>G) n.264A>G c.564A>G (p.Gly188=) | |
| X | g.19353092A>T | CA515485861 | PDHA1 | c.450A>T (p.Gly150=) c.429A>T (p.Gly143=) c.513A>T (p.Gly171=) c.543A>T (p.Gly181=) c.418+1685A>T (n.418+1685A>T) c.419-1399A>T (n.419-1399A>T) n.264A>T c.564A>T (p.Gly188=) | |
| X | g.19353093G>A | CA412392984 | PDHA1 | c.451G>A (p.Gly151Ser) c.430G>A (p.Gly144Ser) c.514G>A (p.Gly172Ser) c.544G>A (p.Gly182Ser) c.418+1686G>A (n.418+1686G>A) c.419-1398G>A (n.419-1398G>A) n.265G>A c.565G>A (p.Gly189Ser) | |
| X | g.19353093G>C | CA412392987 | PDHA1 | c.451G>C (p.Gly151Arg) c.430G>C (p.Gly144Arg) c.514G>C (p.Gly172Arg) c.544G>C (p.Gly182Arg) c.418+1686G>C (n.418+1686G>C) c.419-1398G>C (n.419-1398G>C) n.265G>C c.565G>C (p.Gly189Arg) | |
| X | g.19353093G>T | CA412392991 | PDHA1 | c.451G>T (p.Gly151Cys) c.430G>T (p.Gly144Cys) c.514G>T (p.Gly172Cys) c.544G>T (p.Gly182Cys) c.418+1686G>T (n.418+1686G>T) c.419-1398G>T (n.419-1398G>T) n.265G>T c.565G>T (p.Gly189Cys) | |
| X | g.19353094G>A | CA412392994 | PDHA1 | c.452G>A (p.Gly151Asp) c.431G>A (p.Gly144Asp) c.515G>A (p.Gly172Asp) c.545G>A (p.Gly182Asp) c.418+1687G>A (n.418+1687G>A) c.419-1397G>A (n.419-1397G>A) n.266G>A c.566G>A (p.Gly189Asp) | |
| X | g.19353094G>C | CA412392997 | PDHA1 | c.452G>C (p.Gly151Ala) c.431G>C (p.Gly144Ala) c.515G>C (p.Gly172Ala) c.545G>C (p.Gly182Ala) c.418+1687G>C (n.418+1687G>C) c.419-1397G>C (n.419-1397G>C) n.266G>C c.566G>C (p.Gly189Ala) | |
| X | g.19353094G>T | CA412393000 | PDHA1 | c.452G>T (p.Gly151Val) c.431G>T (p.Gly144Val) c.515G>T (p.Gly172Val) c.545G>T (p.Gly182Val) c.418+1687G>T (n.418+1687G>T) c.419-1397G>T (n.419-1397G>T) n.266G>T c.566G>T (p.Gly189Val) | |
| X | g.19353096_19353098del | CA2695231640 | PDHA1 | c.454_456del (p.Cys152del) c.433_435del (p.Cys145del) c.517_519del (p.Cys173del) c.547_549del (p.Cys183del) c.418+1689_418+1691del (n.418+1689_418+1691del) c.419-1395_419-1393del (n.419-1395_419-1393del) n.268_270del c.568_570del (p.Cys190del) | |
| X | g.19353095T>A | CA515485866 | PDHA1 | c.453T>A (p.Gly151=) c.432T>A (p.Gly144=) c.516T>A (p.Gly172=) c.546T>A (p.Gly182=) c.418+1688T>A (n.418+1688T>A) c.419-1396T>A (n.419-1396T>A) n.267T>A c.567T>A (p.Gly189=) | |
| X | g.19353095T>C | CA515485864 | PDHA1 | c.453T>C (p.Gly151=) c.432T>C (p.Gly144=) c.516T>C (p.Gly172=) c.546T>C (p.Gly182=) c.418+1688T>C (n.418+1688T>C) c.419-1396T>C (n.419-1396T>C) n.267T>C c.567T>C (p.Gly189=) | |
| X | g.19353095T>G | CA515485865 | PDHA1 | c.453T>G (p.Gly151=) c.432T>G (p.Gly144=) c.516T>G (p.Gly172=) c.546T>G (p.Gly182=) c.418+1688T>G (n.418+1688T>G) c.419-1396T>G (n.419-1396T>G) n.267T>G c.567T>G (p.Gly189=) | |
| X | g.19353096T>A | CA412393007 | PDHA1 | c.454T>A (p.Cys152Ser) c.433T>A (p.Cys145Ser) c.517T>A (p.Cys173Ser) c.547T>A (p.Cys183Ser) c.418+1689T>A (n.418+1689T>A) c.419-1395T>A (n.419-1395T>A) n.268T>A c.568T>A (p.Cys190Ser) | |
| X | g.19353096T>C | CA412393009 | PDHA1 | c.454T>C (p.Cys152Arg) c.433T>C (p.Cys145Arg) c.517T>C (p.Cys173Arg) c.547T>C (p.Cys183Arg) c.418+1689T>C (n.418+1689T>C) c.419-1395T>C (n.419-1395T>C) n.268T>C c.568T>C (p.Cys190Arg) | |
| X | g.19353096T>G | CA412393004 | PDHA1 | c.454T>G (p.Cys152Gly) c.433T>G (p.Cys145Gly) c.517T>G (p.Cys173Gly) c.547T>G (p.Cys183Gly) c.418+1689T>G (n.418+1689T>G) c.419-1395T>G (n.419-1395T>G) n.268T>G c.568T>G (p.Cys190Gly) | |
| X | g.19353097G>A | CA412393012 | PDHA1 | c.455G>A (p.Cys152Tyr) c.434G>A (p.Cys145Tyr) c.518G>A (p.Cys173Tyr) c.548G>A (p.Cys183Tyr) c.418+1690G>A (n.418+1690G>A) c.419-1394G>A (n.419-1394G>A) n.269G>A c.569G>A (p.Cys190Tyr) | ClinVar dbSNP |
| X | g.19353097G>C | CA412393015 | PDHA1 | c.455G>C (p.Cys152Ser) c.434G>C (p.Cys145Ser) c.518G>C (p.Cys173Ser) c.548G>C (p.Cys183Ser) c.418+1690G>C (n.418+1690G>C) c.419-1394G>C (n.419-1394G>C) n.269G>C c.569G>C (p.Cys190Ser) | |
| X | g.19353097G= | CA2418222784 | PDHA1 | c.455G= (p.Cys152=) c.434G= (p.Cys145=) c.518G= (p.Cys173=) c.548G= (p.Cys183=) c.418+1690G= (n.418+1690G=) c.419-1394G= (n.419-1394G=) n.269G= c.569G= (p.Cys190=) | |
| X | g.19353097G>T | CA412393018 | PDHA1 | c.455G>T (p.Cys152Phe) c.434G>T (p.Cys145Phe) c.518G>T (p.Cys173Phe) c.548G>T (p.Cys183Phe) c.418+1690G>T (n.418+1690G>T) c.419-1394G>T (n.419-1394G>T) n.269G>T c.569G>T (p.Cys190Phe) | gnomAD v3 gnomAD v4 |
| X | g.19353098T>A | CA412393022 | PDHA1 | c.456T>A (p.Cys152Ter) c.435T>A (p.Cys145Ter) c.519T>A (p.Cys173Ter) c.549T>A (p.Cys183Ter) c.418+1691T>A (n.418+1691T>A) c.419-1393T>A (n.419-1393T>A) n.270T>A c.570T>A (p.Cys190Ter) | |
| X | g.19353098T>C | CA515485867 | PDHA1 | c.456T>C (p.Cys152=) c.435T>C (p.Cys145=) c.519T>C (p.Cys173=) c.549T>C (p.Cys183=) c.418+1691T>C (n.418+1691T>C) c.419-1393T>C (n.419-1393T>C) n.270T>C c.570T>C (p.Cys190=) | ClinVar dbSNP |
| X | g.19353098T>G | CA412393024 | PDHA1 | c.456T>G (p.Cys152Trp) c.435T>G (p.Cys145Trp) c.519T>G (p.Cys173Trp) c.549T>G (p.Cys183Trp) c.418+1691T>G (n.418+1691T>G) c.419-1393T>G (n.419-1393T>G) n.270T>G c.570T>G (p.Cys190Trp) | |
| X | g.19353098T= | CA2418222785 | PDHA1 | c.456T= (p.Cys152=) c.435T= (p.Cys145=) c.519T= (p.Cys173=) c.549T= (p.Cys183=) c.418+1691T= (n.418+1691T=) c.419-1393T= (n.419-1393T=) n.270T= c.570T= (p.Cys190=) | |
| X | g.19353099G>A | CA412393036 | PDHA1 | c.457G>A (p.Ala153Thr) c.436G>A (p.Ala146Thr) c.520G>A (p.Ala174Thr) c.550G>A (p.Ala184Thr) c.418+1692G>A (n.418+1692G>A) c.419-1392G>A (n.419-1392G>A) n.271G>A c.571G>A (p.Ala191Thr) | |
| X | g.19353099G>C | CA412393031 | PDHA1 | c.457G>C (p.Ala153Pro) c.436G>C (p.Ala146Pro) c.520G>C (p.Ala174Pro) c.550G>C (p.Ala184Pro) c.418+1692G>C (n.418+1692G>C) c.419-1392G>C (n.419-1392G>C) n.271G>C c.571G>C (p.Ala191Pro) | |
| X | g.19353099G>T | CA412393028 | PDHA1 | c.457G>T (p.Ala153Ser) c.436G>T (p.Ala146Ser) c.520G>T (p.Ala174Ser) c.550G>T (p.Ala184Ser) c.418+1692G>T (n.418+1692G>T) c.419-1392G>T (n.419-1392G>T) n.271G>T c.571G>T (p.Ala191Ser) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19353100C>A | CA412393040 | PDHA1 | c.458C>A (p.Ala153Asp) c.437C>A (p.Ala146Asp) c.521C>A (p.Ala174Asp) c.551C>A (p.Ala184Asp) c.418+1693C>A (n.418+1693C>A) c.419-1391C>A (n.419-1391C>A) n.272C>A c.572C>A (p.Ala191Asp) | |
| X | g.19353100C>G | CA412393043 | PDHA1 | c.458C>G (p.Ala153Gly) c.437C>G (p.Ala146Gly) c.521C>G (p.Ala174Gly) c.551C>G (p.Ala184Gly) c.418+1693C>G (n.418+1693C>G) c.419-1391C>G (n.419-1391C>G) n.272C>G c.572C>G (p.Ala191Gly) | |
| X | g.19353100C>T | CA412393045 | PDHA1 | c.458C>T (p.Ala153Val) c.437C>T (p.Ala146Val) c.521C>T (p.Ala174Val) c.551C>T (p.Ala184Val) c.418+1693C>T (n.418+1693C>T) c.419-1391C>T (n.419-1391C>T) n.272C>T c.572C>T (p.Ala191Val) | |
| X | g.19353101T>A | CA515485868 | PDHA1 | c.459T>A (p.Ala153=) c.438T>A (p.Ala146=) c.522T>A (p.Ala174=) c.552T>A (p.Ala184=) c.418+1694T>A (n.418+1694T>A) c.419-1390T>A (n.419-1390T>A) n.273T>A c.573T>A (p.Ala191=) | |
| X | g.19353101T>C | CA515485869 | PDHA1 | c.459T>C (p.Ala153=) c.438T>C (p.Ala146=) c.522T>C (p.Ala174=) c.552T>C (p.Ala184=) c.418+1694T>C (n.418+1694T>C) c.419-1390T>C (n.419-1390T>C) n.273T>C c.573T>C (p.Ala191=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19353101T>G | CA515485870 | PDHA1 | c.459T>G (p.Ala153=) c.438T>G (p.Ala146=) c.522T>G (p.Ala174=) c.552T>G (p.Ala184=) c.418+1694T>G (n.418+1694T>G) c.419-1390T>G (n.419-1390T>G) n.273T>G c.573T>G (p.Ala191=) | |
| X | g.19353101T= | CA2418222786 | PDHA1 | c.459T= (p.Ala153=) c.438T= (p.Ala146=) c.522T= (p.Ala174=) c.552T= (p.Ala184=) c.418+1694T= (n.418+1694T=) c.419-1390T= (n.419-1390T=) n.273T= c.573T= (p.Ala191=) | |
| X | g.19353102A>C | CA412393050 | PDHA1 | c.460A>C (p.Lys154Gln) c.439A>C (p.Lys147Gln) c.523A>C (p.Lys175Gln) c.553A>C (p.Lys185Gln) c.418+1695A>C (n.418+1695A>C) c.419-1389A>C (n.419-1389A>C) n.274A>C c.574A>C (p.Lys192Gln) | |
| X | g.19353102A>G | CA412393052 | PDHA1 | c.460A>G (p.Lys154Glu) c.439A>G (p.Lys147Glu) c.523A>G (p.Lys175Glu) c.553A>G (p.Lys185Glu) c.418+1695A>G (n.418+1695A>G) c.419-1389A>G (n.419-1389A>G) n.274A>G c.574A>G (p.Lys192Glu) | |
| X | g.19353102A>T | CA412393055 | PDHA1 | c.460A>T (p.Lys154Ter) c.439A>T (p.Lys147Ter) c.523A>T (p.Lys175Ter) c.553A>T (p.Lys185Ter) c.418+1695A>T (n.418+1695A>T) c.419-1389A>T (n.419-1389A>T) n.274A>T c.574A>T (p.Lys192Ter) | |
| X | g.19353104del | CA2579566248 | PDHA1 | c.462del (p.Gly157GlufsTer?) c.441del (p.Gly150GlufsTer22) c.525del (p.Gly178GlufsTer?) c.555del (p.Gly188GlufsTer?) c.418+1697del (n.418+1697del) c.419-1387del (n.419-1387del) c.441del (p.Gly150GlufsTer?) n.276del c.576del (p.Gly195GlufsTer?) | |
| X | g.19353103A>C | CA412393060 | PDHA1 | c.461A>C (p.Lys154Thr) c.440A>C (p.Lys147Thr) c.524A>C (p.Lys175Thr) c.554A>C (p.Lys185Thr) c.418+1696A>C (n.418+1696A>C) c.419-1388A>C (n.419-1388A>C) n.275A>C c.575A>C (p.Lys192Thr) | |
| X | g.19353103A>G | CA412393069 | PDHA1 | c.461A>G (p.Lys154Arg) c.440A>G (p.Lys147Arg) c.524A>G (p.Lys175Arg) c.554A>G (p.Lys185Arg) c.418+1696A>G (n.418+1696A>G) c.419-1388A>G (n.419-1388A>G) n.275A>G c.575A>G (p.Lys192Arg) | |
| X | g.19353103A>T | CA412393062 | PDHA1 | c.461A>T (p.Lys154Ile) c.440A>T (p.Lys147Ile) c.524A>T (p.Lys175Ile) c.554A>T (p.Lys185Ile) c.418+1696A>T (n.418+1696A>T) c.419-1388A>T (n.419-1388A>T) n.275A>T c.575A>T (p.Lys192Ile) | |
| X | g.19353104A>C | CA412393071 | PDHA1 | c.462A>C (p.Lys154Asn) c.441A>C (p.Lys147Asn) c.525A>C (p.Lys175Asn) c.555A>C (p.Lys185Asn) c.418+1697A>C (n.418+1697A>C) c.419-1387A>C (n.419-1387A>C) n.276A>C c.576A>C (p.Lys192Asn) | |
| X | g.19353104A>G | CA515485871 | PDHA1 | c.462A>G (p.Lys154=) c.441A>G (p.Lys147=) c.525A>G (p.Lys175=) c.555A>G (p.Lys185=) c.418+1697A>G (n.418+1697A>G) c.419-1387A>G (n.419-1387A>G) n.276A>G c.576A>G (p.Lys192=) | |
| X | g.19353104A>T | CA412393073 | PDHA1 | c.462A>T (p.Lys154Asn) c.441A>T (p.Lys147Asn) c.525A>T (p.Lys175Asn) c.555A>T (p.Lys185Asn) c.418+1697A>T (n.418+1697A>T) c.419-1387A>T (n.419-1387A>T) n.276A>T c.576A>T (p.Lys192Asn) | |
| X | g.19353105G>A | CA412393077 | PDHA1 | c.463G>A (p.Gly155Arg) c.442G>A (p.Gly148Arg) c.526G>A (p.Gly176Arg) c.556G>A (p.Gly186Arg) c.418+1698G>A (n.418+1698G>A) c.419-1386G>A (n.419-1386G>A) n.277G>A c.577G>A (p.Gly193Arg) | |
| X | g.19353105G>C | CA412393080 | PDHA1 | c.463G>C (p.Gly155Arg) c.442G>C (p.Gly148Arg) c.526G>C (p.Gly176Arg) c.556G>C (p.Gly186Arg) c.418+1698G>C (n.418+1698G>C) c.419-1386G>C (n.419-1386G>C) n.277G>C c.577G>C (p.Gly193Arg) | |
| X | g.19353105G>T | CA412393082 | PDHA1 | c.463G>T (p.Gly155Trp) c.442G>T (p.Gly148Trp) c.526G>T (p.Gly176Trp) c.556G>T (p.Gly186Trp) c.418+1698G>T (n.418+1698G>T) c.419-1386G>T (n.419-1386G>T) n.277G>T c.577G>T (p.Gly193Trp) | |
| X | g.19353106G>A | CA412393086 | PDHA1 | c.464G>A (p.Gly155Glu) c.443G>A (p.Gly148Glu) c.527G>A (p.Gly176Glu) c.557G>A (p.Gly186Glu) c.418+1699G>A (n.418+1699G>A) c.419-1385G>A (n.419-1385G>A) n.278G>A c.578G>A (p.Gly193Glu) | |
| X | g.19353106G>C | CA412393088 | PDHA1 | c.464G>C (p.Gly155Ala) c.443G>C (p.Gly148Ala) c.527G>C (p.Gly176Ala) c.557G>C (p.Gly186Ala) c.418+1699G>C (n.418+1699G>C) c.419-1385G>C (n.419-1385G>C) n.278G>C c.578G>C (p.Gly193Ala) | |
| X | g.19353106G>T | CA412393090 | PDHA1 | c.464G>T (p.Gly155Val) c.443G>T (p.Gly148Val) c.527G>T (p.Gly176Val) c.557G>T (p.Gly186Val) c.418+1699G>T (n.418+1699G>T) c.419-1385G>T (n.419-1385G>T) n.278G>T c.578G>T (p.Gly193Val) | |
| X | g.19353107G>A | CA515485872 | PDHA1 | c.465G>A (p.Gly155=) c.444G>A (p.Gly148=) c.528G>A (p.Gly176=) c.558G>A (p.Gly186=) c.418+1700G>A (n.418+1700G>A) c.419-1384G>A (n.419-1384G>A) n.279G>A c.579G>A (p.Gly193=) | |
| X | g.19353107G>C | CA515485873 | PDHA1 | c.465G>C (p.Gly155=) c.444G>C (p.Gly148=) c.528G>C (p.Gly176=) c.558G>C (p.Gly186=) c.418+1700G>C (n.418+1700G>C) c.419-1384G>C (n.419-1384G>C) n.279G>C c.579G>C (p.Gly193=) | |
| X | g.19353107G>T | CA515485874 | PDHA1 | c.465G>T (p.Gly155=) c.444G>T (p.Gly148=) c.528G>T (p.Gly176=) c.558G>T (p.Gly186=) c.418+1700G>T (n.418+1700G>T) c.419-1384G>T (n.419-1384G>T) n.279G>T c.579G>T (p.Gly193=) | |
| X | g.19353108A>C | CA412393095 | PDHA1 | c.466A>C (p.Lys156Gln) c.445A>C (p.Lys149Gln) c.529A>C (p.Lys177Gln) c.559A>C (p.Lys187Gln) c.418+1701A>C (n.418+1701A>C) c.419-1383A>C (n.419-1383A>C) n.280A>C c.580A>C (p.Lys194Gln) | |
| X | g.19353108A>G | CA412393098 | PDHA1 | c.466A>G (p.Lys156Glu) c.445A>G (p.Lys149Glu) c.529A>G (p.Lys177Glu) c.559A>G (p.Lys187Glu) c.418+1701A>G (n.418+1701A>G) c.419-1383A>G (n.419-1383A>G) n.280A>G c.580A>G (p.Lys194Glu) | |
| X | g.19353108A>T | CA412393100 | PDHA1 | c.466A>T (p.Lys156Ter) c.445A>T (p.Lys149Ter) c.529A>T (p.Lys177Ter) c.559A>T (p.Lys187Ter) c.418+1701A>T (n.418+1701A>T) c.419-1383A>T (n.419-1383A>T) n.280A>T c.580A>T (p.Lys194Ter) | |
| X | g.19353109A>C | CA412393109 | PDHA1 | c.467A>C (p.Lys156Thr) c.446A>C (p.Lys149Thr) c.530A>C (p.Lys177Thr) c.560A>C (p.Lys187Thr) c.418+1702A>C (n.418+1702A>C) c.419-1382A>C (n.419-1382A>C) n.281A>C c.581A>C (p.Lys194Thr) | |
| X | g.19353109A>G | CA412393114 | PDHA1 | c.467A>G (p.Lys156Arg) c.446A>G (p.Lys149Arg) c.530A>G (p.Lys177Arg) c.560A>G (p.Lys187Arg) c.418+1702A>G (n.418+1702A>G) c.419-1382A>G (n.419-1382A>G) n.281A>G c.581A>G (p.Lys194Arg) | gnomAD v4 |
| X | g.19353109A>T | CA412393111 | PDHA1 | c.467A>T (p.Lys156Ile) c.446A>T (p.Lys149Ile) c.530A>T (p.Lys177Ile) c.560A>T (p.Lys187Ile) c.418+1702A>T (n.418+1702A>T) c.419-1382A>T (n.419-1382A>T) n.281A>T c.581A>T (p.Lys194Ile) | |
| X | g.19353110A= | CA2418222787 | PDHA1 | c.468A= (p.Lys156=) c.447A= (p.Lys149=) c.531A= (p.Lys177=) c.561A= (p.Lys187=) c.418+1703A= (n.418+1703A=) c.419-1381A= (n.419-1381A=) n.282A= c.582A= (p.Lys194=) | |
| X | g.19353110A>C | CA412393117 | PDHA1 | c.468A>C (p.Lys156Asn) c.447A>C (p.Lys149Asn) c.531A>C (p.Lys177Asn) c.561A>C (p.Lys187Asn) c.418+1703A>C (n.418+1703A>C) c.419-1381A>C (n.419-1381A>C) n.282A>C c.582A>C (p.Lys194Asn) | |
| X | g.19353110A>G | CA10363041 | PDHA1 | c.468A>G (p.Lys156=) c.447A>G (p.Lys149=) c.531A>G (p.Lys177=) c.561A>G (p.Lys187=) c.418+1703A>G (n.418+1703A>G) c.419-1381A>G (n.419-1381A>G) n.282A>G c.582A>G (p.Lys194=) | ClinVar dbSNP ExAC |
| X | g.19353110A>T | CA412393131 | PDHA1 | c.468A>T (p.Lys156Asn) c.447A>T (p.Lys149Asn) c.531A>T (p.Lys177Asn) c.561A>T (p.Lys187Asn) c.418+1703A>T (n.418+1703A>T) c.419-1381A>T (n.419-1381A>T) n.282A>T c.582A>T (p.Lys194Asn) | |
| X | g.19353111G>A | CA412393141 | PDHA1 | c.469G>A (p.Gly157Arg) c.448G>A (p.Gly150Arg) c.532G>A (p.Gly178Arg) c.562G>A (p.Gly188Arg) c.418+1704G>A (n.418+1704G>A) c.419-1380G>A (n.419-1380G>A) n.283G>A c.583G>A (p.Gly195Arg) | |
| X | g.19353111G>C | CA412393148 | PDHA1 | c.469G>C (p.Gly157Arg) c.448G>C (p.Gly150Arg) c.532G>C (p.Gly178Arg) c.562G>C (p.Gly188Arg) c.418+1704G>C (n.418+1704G>C) c.419-1380G>C (n.419-1380G>C) n.283G>C c.583G>C (p.Gly195Arg) | |
| X | g.19353111G>T | CA412393145 | PDHA1 | c.469G>T (p.Gly157Ter) c.448G>T (p.Gly150Ter) c.532G>T (p.Gly178Ter) c.562G>T (p.Gly188Ter) c.418+1704G>T (n.418+1704G>T) c.419-1380G>T (n.419-1380G>T) n.283G>T c.583G>T (p.Gly195Ter) | |
| X | g.19353112G>A | CA412393151 | PDHA1 | c.470G>A (p.Gly157Glu) c.449G>A (p.Gly150Glu) c.533G>A (p.Gly178Glu) c.563G>A (p.Gly188Glu) c.418+1705G>A (n.418+1705G>A) c.419-1379G>A (n.419-1379G>A) n.284G>A c.584G>A (p.Gly195Glu) | |
| X | g.19353112G>C | CA412393158 | PDHA1 | c.470G>C (p.Gly157Ala) c.449G>C (p.Gly150Ala) c.533G>C (p.Gly178Ala) c.563G>C (p.Gly188Ala) c.418+1705G>C (n.418+1705G>C) c.419-1379G>C (n.419-1379G>C) n.284G>C c.584G>C (p.Gly195Ala) | |
| X | g.19353112G>T | CA412393155 | PDHA1 | c.470G>T (p.Gly157Val) c.449G>T (p.Gly150Val) c.533G>T (p.Gly178Val) c.563G>T (p.Gly188Val) c.418+1705G>T (n.418+1705G>T) c.419-1379G>T (n.419-1379G>T) n.284G>T c.584G>T (p.Gly195Val) | |
| X | g.19353113A>C | CA515485875 | PDHA1 | c.471A>C (p.Gly157=) c.450A>C (p.Gly150=) c.534A>C (p.Gly178=) c.564A>C (p.Gly188=) c.418+1706A>C (n.418+1706A>C) c.419-1378A>C (n.419-1378A>C) n.285A>C c.585A>C (p.Gly195=) | |
| X | g.19353113A>G | CA515485876 | PDHA1 | c.471A>G (p.Gly157=) c.450A>G (p.Gly150=) c.534A>G (p.Gly178=) c.564A>G (p.Gly188=) c.418+1706A>G (n.418+1706A>G) c.419-1378A>G (n.419-1378A>G) n.285A>G c.585A>G (p.Gly195=) | |
| X | g.19353113A>T | CA515485877 | PDHA1 | c.471A>T (p.Gly157=) c.450A>T (p.Gly150=) c.534A>T (p.Gly178=) c.564A>T (p.Gly188=) c.418+1706A>T (n.418+1706A>T) c.419-1378A>T (n.419-1378A>T) n.285A>T c.585A>T (p.Gly195=) | |
| X | g.19353114G>A | CA325123 | PDHA1 | c.472G>A (p.Gly158Arg) c.451G>A (p.Gly151Arg) c.535G>A (p.Gly179Arg) c.565G>A (p.Gly189Arg) c.418+1707G>A (n.418+1707G>A) c.419-1377G>A (n.419-1377G>A) n.286G>A c.586G>A (p.Gly196Arg) | dbSNP |
| X | g.19353114G>C | CA412393167 | PDHA1 | c.472G>C (p.Gly158Arg) c.451G>C (p.Gly151Arg) c.535G>C (p.Gly179Arg) c.565G>C (p.Gly189Arg) c.418+1707G>C (n.418+1707G>C) c.419-1377G>C (n.419-1377G>C) n.286G>C c.586G>C (p.Gly196Arg) | |
| X | g.19353114G= | CA2418222788 | PDHA1 | c.472G= (p.Gly158=) c.451G= (p.Gly151=) c.535G= (p.Gly179=) c.565G= (p.Gly189=) c.418+1707G= (n.418+1707G=) c.419-1377G= (n.419-1377G=) n.286G= c.586G= (p.Gly196=) | |
| X | g.19353114G>T | CA412393164 | PDHA1 | c.472G>T (p.Gly158Ter) c.451G>T (p.Gly151Ter) c.535G>T (p.Gly179Ter) c.565G>T (p.Gly189Ter) c.418+1707G>T (n.418+1707G>T) c.419-1377G>T (n.419-1377G>T) n.286G>T c.586G>T (p.Gly196Ter) | |
| X | g.19353115G>A | CA412393171 | PDHA1 | c.473G>A (p.Gly158Glu) c.452G>A (p.Gly151Glu) c.536G>A (p.Gly179Glu) c.566G>A (p.Gly189Glu) c.418+1708G>A (n.418+1708G>A) c.419-1376G>A (n.419-1376G>A) n.287G>A c.587G>A (p.Gly196Glu) | |
| X | g.19353115G>C | CA412393177 | PDHA1 | c.473G>C (p.Gly158Ala) c.452G>C (p.Gly151Ala) c.536G>C (p.Gly179Ala) c.566G>C (p.Gly189Ala) c.418+1708G>C (n.418+1708G>C) c.419-1376G>C (n.419-1376G>C) n.287G>C c.587G>C (p.Gly196Ala) | |
| X | g.19353115G>T | CA412393174 | PDHA1 | c.473G>T (p.Gly158Val) c.452G>T (p.Gly151Val) c.536G>T (p.Gly179Val) c.566G>T (p.Gly189Val) c.418+1708G>T (n.418+1708G>T) c.419-1376G>T (n.419-1376G>T) n.287G>T c.587G>T (p.Gly196Val) | |
| X | g.19353116A>C | CA515485878 | PDHA1 | c.474A>C (p.Gly158=) c.453A>C (p.Gly151=) c.537A>C (p.Gly179=) c.567A>C (p.Gly189=) c.418+1709A>C (n.418+1709A>C) c.419-1375A>C (n.419-1375A>C) n.288A>C c.588A>C (p.Gly196=) | |
| X | g.19353116A>G | CA515485880 | PDHA1 | c.474A>G (p.Gly158=) c.453A>G (p.Gly151=) c.537A>G (p.Gly179=) c.567A>G (p.Gly189=) c.418+1709A>G (n.418+1709A>G) c.419-1375A>G (n.419-1375A>G) n.288A>G c.588A>G (p.Gly196=) | |
| X | g.19353116A>T | CA515485879 | PDHA1 | c.474A>T (p.Gly158=) c.453A>T (p.Gly151=) c.537A>T (p.Gly179=) c.567A>T (p.Gly189=) c.418+1709A>T (n.418+1709A>T) c.419-1375A>T (n.419-1375A>T) n.288A>T c.588A>T (p.Gly196=) | |
| X | g.19353117T>A | CA412393182 | PDHA1 | c.475T>A (p.Ser159Thr) c.454T>A (p.Ser152Thr) c.538T>A (p.Ser180Thr) c.568T>A (p.Ser190Thr) c.418+1710T>A (n.418+1710T>A) c.419-1374T>A (n.419-1374T>A) n.289T>A c.589T>A (p.Ser197Thr) | |
| X | g.19353117T>C | CA412393188 | PDHA1 | c.475T>C (p.Ser159Pro) c.454T>C (p.Ser152Pro) c.538T>C (p.Ser180Pro) c.568T>C (p.Ser190Pro) c.418+1710T>C (n.418+1710T>C) c.419-1374T>C (n.419-1374T>C) n.289T>C c.589T>C (p.Ser197Pro) | |
| X | g.19353117T>G | CA412393185 | PDHA1 | c.475T>G (p.Ser159Ala) c.454T>G (p.Ser152Ala) c.538T>G (p.Ser180Ala) c.568T>G (p.Ser190Ala) c.418+1710T>G (n.418+1710T>G) c.419-1374T>G (n.419-1374T>G) n.289T>G c.589T>G (p.Ser197Ala) | |
| X | g.19353118C>A | CA412393194 | PDHA1 | c.476C>A (p.Ser159Ter) c.455C>A (p.Ser152Ter) c.539C>A (p.Ser180Ter) c.569C>A (p.Ser190Ter) c.418+1711C>A (n.418+1711C>A) c.419-1373C>A (n.419-1373C>A) n.290C>A c.590C>A (p.Ser197Ter) | |
| X | g.19353118C= | CA2418222789 | PDHA1 | c.476C= (p.Ser159=) c.455C= (p.Ser152=) c.539C= (p.Ser180=) c.569C= (p.Ser190=) c.418+1711C= (n.418+1711C=) c.419-1373C= (n.419-1373C=) n.290C= c.590C= (p.Ser197=) | |
| X | g.19353118C>G | CA412393196 | PDHA1 | c.476C>G (p.Ser159Trp) c.455C>G (p.Ser152Trp) c.539C>G (p.Ser180Trp) c.569C>G (p.Ser190Trp) c.418+1711C>G (n.418+1711C>G) c.419-1373C>G (n.419-1373C>G) n.290C>G c.590C>G (p.Ser197Trp) | |
| X | g.19353118C>T | CA412393200 | PDHA1 | c.476C>T (p.Ser159Leu) c.455C>T (p.Ser152Leu) c.539C>T (p.Ser180Leu) c.569C>T (p.Ser190Leu) c.418+1711C>T (n.418+1711C>T) c.419-1373C>T (n.419-1373C>T) n.290C>T c.590C>T (p.Ser197Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19353119G>A | CA515485881 | PDHA1 | c.477G>A (p.Ser159=) c.456G>A (p.Ser152=) c.540G>A (p.Ser180=) c.570G>A (p.Ser190=) c.418+1712G>A (n.418+1712G>A) c.419-1372G>A (n.419-1372G>A) n.291G>A c.591G>A (p.Ser197=) | ClinVar dbSNP gnomAD v4 |
| X | g.19353119G>C | CA515485882 | PDHA1 | c.477G>C (p.Ser159=) c.456G>C (p.Ser152=) c.540G>C (p.Ser180=) c.570G>C (p.Ser190=) c.418+1712G>C (n.418+1712G>C) c.419-1372G>C (n.419-1372G>C) n.291G>C c.591G>C (p.Ser197=) | gnomAD v4 |
| X | g.19353119G= | CA2418222790 | PDHA1 | c.477G= (p.Ser159=) c.456G= (p.Ser152=) c.540G= (p.Ser180=) c.570G= (p.Ser190=) c.418+1712G= (n.418+1712G=) c.419-1372G= (n.419-1372G=) n.291G= c.591G= (p.Ser197=) | |
| X | g.19353119G>T | CA515485883 | PDHA1 | c.477G>T (p.Ser159=) c.456G>T (p.Ser152=) c.540G>T (p.Ser180=) c.570G>T (p.Ser190=) c.418+1712G>T (n.418+1712G>T) c.419-1372G>T (n.419-1372G>T) n.291G>T c.591G>T (p.Ser197=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19353120A>C | CA412393204 | PDHA1 | c.478A>C (p.Met160Leu) c.457A>C (p.Met153Leu) c.541A>C (p.Met181Leu) c.571A>C (p.Met191Leu) c.418+1713A>C (n.418+1713A>C) c.419-1371A>C (n.419-1371A>C) n.292A>C c.592A>C (p.Met198Leu) | |
| X | g.19353120A>G | CA412393207 | PDHA1 | c.478A>G (p.Met160Val) c.457A>G (p.Met153Val) c.541A>G (p.Met181Val) c.571A>G (p.Met191Val) c.418+1713A>G (n.418+1713A>G) c.419-1371A>G (n.419-1371A>G) n.292A>G c.592A>G (p.Met198Val) | |
| X | g.19353120A>T | CA412393210 | PDHA1 | c.478A>T (p.Met160Leu) c.457A>T (p.Met153Leu) c.541A>T (p.Met181Leu) c.571A>T (p.Met191Leu) c.418+1713A>T (n.418+1713A>T) c.419-1371A>T (n.419-1371A>T) n.292A>T c.592A>T (p.Met198Leu) | |
| X | g.19353121T>A | CA412393213 | PDHA1 | c.479T>A (p.Met160Lys) c.458T>A (p.Met153Lys) c.542T>A (p.Met181Lys) c.572T>A (p.Met191Lys) c.418+1714T>A (n.418+1714T>A) c.419-1370T>A (n.419-1370T>A) n.293T>A c.593T>A (p.Met198Lys) | |
| X | g.19353121T>C | CA412393217 | PDHA1 | c.479T>C (p.Met160Thr) c.458T>C (p.Met153Thr) c.542T>C (p.Met181Thr) c.572T>C (p.Met191Thr) c.418+1714T>C (n.418+1714T>C) c.419-1370T>C (n.419-1370T>C) n.293T>C c.593T>C (p.Met198Thr) | |
| X | g.19353121T>G | CA412393220 | PDHA1 | c.479T>G (p.Met160Arg) c.458T>G (p.Met153Arg) c.542T>G (p.Met181Arg) c.572T>G (p.Met191Arg) c.418+1714T>G (n.418+1714T>G) c.419-1370T>G (n.419-1370T>G) n.293T>G c.593T>G (p.Met198Arg) | |
| X | g.19353122G>A | CA412393224 | PDHA1 | c.480G>A (p.Met160Ile) c.459G>A (p.Met153Ile) c.543G>A (p.Met181Ile) c.573G>A (p.Met191Ile) c.418+1715G>A (n.418+1715G>A) c.419-1369G>A (n.419-1369G>A) n.294G>A c.594G>A (p.Met198Ile) | |
| X | g.19353122G>C | CA412393227 | PDHA1 | c.480G>C (p.Met160Ile) c.459G>C (p.Met153Ile) c.543G>C (p.Met181Ile) c.573G>C (p.Met191Ile) c.418+1715G>C (n.418+1715G>C) c.419-1369G>C (n.419-1369G>C) n.294G>C c.594G>C (p.Met198Ile) | |
| X | g.19353122G>T | CA412393230 | PDHA1 | c.480G>T (p.Met160Ile) c.459G>T (p.Met153Ile) c.543G>T (p.Met181Ile) c.573G>T (p.Met191Ile) c.418+1715G>T (n.418+1715G>T) c.419-1369G>T (n.419-1369G>T) n.294G>T c.594G>T (p.Met198Ile) | |
| X | g.19353123C>A | CA412393233 | PDHA1 | c.481C>A (p.His161Asn) c.460C>A (p.His154Asn) c.544C>A (p.His182Asn) c.574C>A (p.His192Asn) c.418+1716C>A (n.418+1716C>A) c.419-1368C>A (n.419-1368C>A) n.295C>A c.595C>A (p.His199Asn) | |
| X | g.19353123C>G | CA412393236 | PDHA1 | c.481C>G (p.His161Asp) c.460C>G (p.His154Asp) c.544C>G (p.His182Asp) c.574C>G (p.His192Asp) c.418+1716C>G (n.418+1716C>G) c.419-1368C>G (n.419-1368C>G) n.295C>G c.595C>G (p.His199Asp) | |
| X | g.19353123C>T | CA412393235 | PDHA1 | c.481C>T (p.His161Tyr) c.460C>T (p.His154Tyr) c.544C>T (p.His182Tyr) c.574C>T (p.His192Tyr) c.418+1716C>T (n.418+1716C>T) c.419-1368C>T (n.419-1368C>T) n.295C>T c.595C>T (p.His199Tyr) | |
| X | g.19353124A= | CA2418222791 | PDHA1 | c.482A= (p.His161=) c.461A= (p.His154=) c.545A= (p.His182=) c.575A= (p.His192=) c.418+1717A= (n.418+1717A=) c.419-1367A= (n.419-1367A=) n.296A= c.596A= (p.His199=) | |
| X | g.19353124A>C | CA412393237 | PDHA1 | c.482A>C (p.His161Pro) c.461A>C (p.His154Pro) c.545A>C (p.His182Pro) c.575A>C (p.His192Pro) c.418+1717A>C (n.418+1717A>C) c.419-1367A>C (n.419-1367A>C) n.296A>C c.596A>C (p.His199Pro) | |
| X | g.19353124A>G | CA412393238 | PDHA1 | c.482A>G (p.His161Arg) c.461A>G (p.His154Arg) c.545A>G (p.His182Arg) c.575A>G (p.His192Arg) c.418+1717A>G (n.418+1717A>G) c.419-1367A>G (n.419-1367A>G) n.296A>G c.596A>G (p.His199Arg) | ClinVar dbSNP |
| X | g.19353124A>T | CA412393239 | PDHA1 | c.482A>T (p.His161Leu) c.461A>T (p.His154Leu) c.545A>T (p.His182Leu) c.575A>T (p.His192Leu) c.418+1717A>T (n.418+1717A>T) c.419-1367A>T (n.419-1367A>T) n.296A>T c.596A>T (p.His199Leu) | |
| X | g.19353125C>A | CA412393240 | PDHA1 | c.483C>A (p.His161Gln) c.462C>A (p.His154Gln) c.546C>A (p.His182Gln) c.576C>A (p.His192Gln) c.418+1718C>A (n.418+1718C>A) c.419-1366C>A (n.419-1366C>A) n.297C>A c.597C>A (p.His199Gln) | |
| X | g.19353125C>G | CA412393241 | PDHA1 | c.483C>G (p.His161Gln) c.462C>G (p.His154Gln) c.546C>G (p.His182Gln) c.576C>G (p.His192Gln) c.418+1718C>G (n.418+1718C>G) c.419-1366C>G (n.419-1366C>G) n.297C>G c.597C>G (p.His199Gln) | |
| X | g.19353125C>T | CA515485884 | PDHA1 | c.483C>T (p.His161=) c.462C>T (p.His154=) c.546C>T (p.His182=) c.576C>T (p.His192=) c.418+1718C>T (n.418+1718C>T) c.419-1366C>T (n.419-1366C>T) n.297C>T c.597C>T (p.His199=) | gnomAD v4 |
| X | g.19353126A= | CA2418222792 | PDHA1 | c.484A= (p.Met162=) c.463A= (p.Met155=) c.547A= (p.Met183=) c.577A= (p.Met193=) c.418+1719A= (n.418+1719A=) c.419-1365A= (n.419-1365A=) n.298A= c.598A= (p.Met200=) | |
| X | g.19353126A>C | CA412393242 | PDHA1 | c.484A>C (p.Met162Leu) c.463A>C (p.Met155Leu) c.547A>C (p.Met183Leu) c.577A>C (p.Met193Leu) c.418+1719A>C (n.418+1719A>C) c.419-1365A>C (n.419-1365A>C) n.298A>C c.598A>C (p.Met200Leu) | |
| X | g.19353126A>G | CA412393243 | PDHA1 | c.484A>G (p.Met162Val) c.463A>G (p.Met155Val) c.547A>G (p.Met183Val) c.577A>G (p.Met193Val) c.418+1719A>G (n.418+1719A>G) c.419-1365A>G (n.419-1365A>G) n.298A>G c.598A>G (p.Met200Val) | COSMIC COSMIC |
| X | g.19353126A>T | CA321384 | PDHA1 | c.484A>T (p.Met162Leu) c.463A>T (p.Met155Leu) c.547A>T (p.Met183Leu) c.577A>T (p.Met193Leu) c.418+1719A>T (n.418+1719A>T) c.419-1365A>T (n.419-1365A>T) n.298A>T c.598A>T (p.Met200Leu) | ClinVar dbSNP |
| X | g.19353127T>A | CA412393246 | PDHA1 | c.485T>A (p.Met162Lys) c.464T>A (p.Met155Lys) c.548T>A (p.Met183Lys) c.578T>A (p.Met193Lys) c.418+1720T>A (n.418+1720T>A) c.419-1364T>A (n.419-1364T>A) n.299T>A c.599T>A (p.Met200Lys) | |
| X | g.19353127T>C | CA412393245 | PDHA1 | c.485T>C (p.Met162Thr) c.464T>C (p.Met155Thr) c.548T>C (p.Met183Thr) c.578T>C (p.Met193Thr) c.418+1720T>C (n.418+1720T>C) c.419-1364T>C (n.419-1364T>C) n.299T>C c.599T>C (p.Met200Thr) | |
| X | g.19353127T>G | CA412393244 | PDHA1 | c.485T>G (p.Met162Arg) c.464T>G (p.Met155Arg) c.548T>G (p.Met183Arg) c.578T>G (p.Met193Arg) c.418+1720T>G (n.418+1720T>G) c.419-1364T>G (n.419-1364T>G) n.299T>G c.599T>G (p.Met200Arg) | |
| X | g.19353128G>A | CA412393247 | PDHA1 | c.486G>A (p.Met162Ile) c.465G>A (p.Met155Ile) c.549G>A (p.Met183Ile) c.579G>A (p.Met193Ile) c.418+1721G>A (n.418+1721G>A) c.419-1363G>A (n.419-1363G>A) n.300G>A c.600G>A (p.Met200Ile) | |
| X | g.19353128G>C | CA412393248 | PDHA1 | c.486G>C (p.Met162Ile) c.465G>C (p.Met155Ile) c.549G>C (p.Met183Ile) c.579G>C (p.Met193Ile) c.418+1721G>C (n.418+1721G>C) c.419-1363G>C (n.419-1363G>C) n.300G>C c.600G>C (p.Met200Ile) | |
| X | g.19353128G>T | CA412393249 | PDHA1 | c.486G>T (p.Met162Ile) c.465G>T (p.Met155Ile) c.549G>T (p.Met183Ile) c.579G>T (p.Met193Ile) c.418+1721G>T (n.418+1721G>T) c.419-1363G>T (n.419-1363G>T) n.300G>T c.600G>T (p.Met200Ile) | ClinVar |
| X | g.19353129T>A | CA412393250 | PDHA1 | c.487T>A (p.Tyr163Asn) c.466T>A (p.Tyr156Asn) c.550T>A (p.Tyr184Asn) c.580T>A (p.Tyr194Asn) c.418+1722T>A (n.418+1722T>A) c.419-1362T>A (n.419-1362T>A) n.301T>A c.601T>A (p.Tyr201Asn) | |
| X | g.19353129T>C | CA412393251 | PDHA1 | c.487T>C (p.Tyr163His) c.466T>C (p.Tyr156His) c.550T>C (p.Tyr184His) c.580T>C (p.Tyr194His) c.418+1722T>C (n.418+1722T>C) c.419-1362T>C (n.419-1362T>C) n.301T>C c.601T>C (p.Tyr201His) | |
| X | g.19353129T>G | CA412393252 | PDHA1 | c.487T>G (p.Tyr163Asp) c.466T>G (p.Tyr156Asp) c.550T>G (p.Tyr184Asp) c.580T>G (p.Tyr194Asp) c.418+1722T>G (n.418+1722T>G) c.419-1362T>G (n.419-1362T>G) n.301T>G c.601T>G (p.Tyr201Asp) | |
| X | g.19353130A>C | CA412393253 | PDHA1 | c.488A>C (p.Tyr163Ser) c.467A>C (p.Tyr156Ser) c.551A>C (p.Tyr184Ser) c.581A>C (p.Tyr194Ser) c.418+1723A>C (n.418+1723A>C) c.419-1361A>C (n.419-1361A>C) n.302A>C c.602A>C (p.Tyr201Ser) | |
| X | g.19353130A>G | CA412393254 | PDHA1 | c.488A>G (p.Tyr163Cys) c.467A>G (p.Tyr156Cys) c.551A>G (p.Tyr184Cys) c.581A>G (p.Tyr194Cys) c.418+1723A>G (n.418+1723A>G) c.419-1361A>G (n.419-1361A>G) n.302A>G c.602A>G (p.Tyr201Cys) | |
| X | g.19353130A>T | CA412393255 | PDHA1 | c.488A>T (p.Tyr163Phe) c.467A>T (p.Tyr156Phe) c.551A>T (p.Tyr184Phe) c.581A>T (p.Tyr194Phe) c.418+1723A>T (n.418+1723A>T) c.419-1361A>T (n.419-1361A>T) n.302A>T c.602A>T (p.Tyr201Phe) | |
| X | g.19353131T>A | CA412393256 | PDHA1 | c.489T>A (p.Tyr163Ter) c.468T>A (p.Tyr156Ter) c.552T>A (p.Tyr184Ter) c.582T>A (p.Tyr194Ter) c.418+1724T>A (n.418+1724T>A) c.419-1360T>A (n.419-1360T>A) n.303T>A c.603T>A (p.Tyr201Ter) | |
| X | g.19353131T>C | CA515485885 | PDHA1 | c.489T>C (p.Tyr163=) c.468T>C (p.Tyr156=) c.552T>C (p.Tyr184=) c.582T>C (p.Tyr194=) c.418+1724T>C (n.418+1724T>C) c.419-1360T>C (n.419-1360T>C) n.303T>C c.603T>C (p.Tyr201=) | |
| X | g.19353131T>G | CA412393257 | PDHA1 | c.489T>G (p.Tyr163Ter) c.468T>G (p.Tyr156Ter) c.552T>G (p.Tyr184Ter) c.582T>G (p.Tyr194Ter) c.418+1724T>G (n.418+1724T>G) c.419-1360T>G (n.419-1360T>G) n.303T>G c.603T>G (p.Tyr201Ter) | |
| X | g.19353132G>A | CA412393260 | PDHA1 | c.490G>A (p.Ala164Thr) c.469G>A (p.Ala157Thr) c.553G>A (p.Ala185Thr) c.583G>A (p.Ala195Thr) c.418+1725G>A (n.418+1725G>A) c.419-1359G>A (n.419-1359G>A) n.304G>A c.604G>A (p.Ala202Thr) | |
| X | g.19353132G>C | CA412393258 | PDHA1 | c.490G>C (p.Ala164Pro) c.469G>C (p.Ala157Pro) c.553G>C (p.Ala185Pro) c.583G>C (p.Ala195Pro) c.418+1725G>C (n.418+1725G>C) c.419-1359G>C (n.419-1359G>C) n.304G>C c.604G>C (p.Ala202Pro) | |
| X | g.19353132G>T | CA412393259 | PDHA1 | c.490G>T (p.Ala164Ser) c.469G>T (p.Ala157Ser) c.553G>T (p.Ala185Ser) c.583G>T (p.Ala195Ser) c.418+1725G>T (n.418+1725G>T) c.419-1359G>T (n.419-1359G>T) n.304G>T c.604G>T (p.Ala202Ser) | |
| X | g.19353133C>A | CA412393261 | PDHA1 | c.491C>A (p.Ala164Asp) c.470C>A (p.Ala157Asp) c.554C>A (p.Ala185Asp) c.584C>A (p.Ala195Asp) c.418+1726C>A (n.418+1726C>A) c.419-1358C>A (n.419-1358C>A) n.305C>A c.605C>A (p.Ala202Asp) | |
| X | g.19353133C>G | CA412393262 | PDHA1 | c.491C>G (p.Ala164Gly) c.470C>G (p.Ala157Gly) c.554C>G (p.Ala185Gly) c.584C>G (p.Ala195Gly) c.418+1726C>G (n.418+1726C>G) c.419-1358C>G (n.419-1358C>G) n.305C>G c.605C>G (p.Ala202Gly) | |
| X | g.19353133C>T | CA412393263 | PDHA1 | c.491C>T (p.Ala164Val) c.470C>T (p.Ala157Val) c.554C>T (p.Ala185Val) c.584C>T (p.Ala195Val) c.418+1726C>T (n.418+1726C>T) c.419-1358C>T (n.419-1358C>T) n.305C>T c.605C>T (p.Ala202Val) | |
| X | g.19353134C>A | CA515485886 | PDHA1 | c.492C>A (p.Ala164=) c.471C>A (p.Ala157=) c.555C>A (p.Ala185=) c.585C>A (p.Ala195=) c.418+1727C>A (n.418+1727C>A) c.419-1357C>A (n.419-1357C>A) n.306C>A c.606C>A (p.Ala202=) | gnomAD v4 |
| X | g.19353134C>G | CA515485887 | PDHA1 | c.492C>G (p.Ala164=) c.471C>G (p.Ala157=) c.555C>G (p.Ala185=) c.585C>G (p.Ala195=) c.418+1727C>G (n.418+1727C>G) c.419-1357C>G (n.419-1357C>G) n.306C>G c.606C>G (p.Ala202=) | |
| X | g.19353134C>T | CA515485888 | PDHA1 | c.492C>T (p.Ala164=) c.471C>T (p.Ala157=) c.555C>T (p.Ala185=) c.585C>T (p.Ala195=) c.418+1727C>T (n.418+1727C>T) c.419-1357C>T (n.419-1357C>T) n.306C>T c.606C>T (p.Ala202=) | |
| X | g.19353135A>C | CA412393264 | PDHA1 | c.493A>C (p.Lys165Gln) c.472A>C (p.Lys158Gln) c.556A>C (p.Lys186Gln) c.586A>C (p.Lys196Gln) c.418+1728A>C (n.418+1728A>C) c.419-1356A>C (n.419-1356A>C) n.307A>C c.607A>C (p.Lys203Gln) | |
| X | g.19353135A>G | CA412393265 | PDHA1 | c.493A>G (p.Lys165Glu) c.472A>G (p.Lys158Glu) c.556A>G (p.Lys186Glu) c.586A>G (p.Lys196Glu) c.418+1728A>G (n.418+1728A>G) c.419-1356A>G (n.419-1356A>G) n.307A>G c.607A>G (p.Lys203Glu) | |
| X | g.19353135A>T | CA412393266 | PDHA1 | c.493A>T (p.Lys165Ter) c.472A>T (p.Lys158Ter) c.556A>T (p.Lys186Ter) c.586A>T (p.Lys196Ter) c.418+1728A>T (n.418+1728A>T) c.419-1356A>T (n.419-1356A>T) n.307A>T c.607A>T (p.Lys203Ter) | |
| X | g.19353136A>C | CA412393267 | PDHA1 | c.494A>C (p.Lys165Thr) c.473A>C (p.Lys158Thr) c.557A>C (p.Lys186Thr) c.587A>C (p.Lys196Thr) c.418+1729A>C (n.418+1729A>C) c.419-1355A>C (n.419-1355A>C) n.308A>C c.608A>C (p.Lys203Thr) | |
| X | g.19353136A>G | CA412393269 | PDHA1 | c.494A>G (p.Lys165Arg) c.473A>G (p.Lys158Arg) c.557A>G (p.Lys186Arg) c.587A>G (p.Lys196Arg) c.418+1729A>G (n.418+1729A>G) c.419-1355A>G (n.419-1355A>G) n.308A>G c.608A>G (p.Lys203Arg) | |
| X | g.19353136A>T | CA412393271 | PDHA1 | c.494A>T (p.Lys165Met) c.473A>T (p.Lys158Met) c.557A>T (p.Lys186Met) c.587A>T (p.Lys196Met) c.418+1729A>T (n.418+1729A>T) c.419-1355A>T (n.419-1355A>T) n.308A>T c.608A>T (p.Lys203Met) | |
| X | g.19353137G>A | CA515485889 | PDHA1 | c.495G>A (p.Lys165=) c.474G>A (p.Lys158=) c.558G>A (p.Lys186=) c.588G>A (p.Lys196=) c.418+1730G>A (n.418+1730G>A) c.419-1354G>A (n.419-1354G>A) n.309G>A c.609G>A (p.Lys203=) | |
| X | g.19353137G>C | CA412393273 | PDHA1 | c.495G>C (p.Lys165Asn) c.474G>C (p.Lys158Asn) c.558G>C (p.Lys186Asn) c.588G>C (p.Lys196Asn) c.418+1730G>C (n.418+1730G>C) c.419-1354G>C (n.419-1354G>C) n.309G>C c.609G>C (p.Lys203Asn) | |
| X | g.19353137G>T | CA412393275 | PDHA1 | c.495G>T (p.Lys165Asn) c.474G>T (p.Lys158Asn) c.558G>T (p.Lys186Asn) c.588G>T (p.Lys196Asn) c.418+1730G>T (n.418+1730G>T) c.419-1354G>T (n.419-1354G>T) n.309G>T c.609G>T (p.Lys203Asn) | |
| X | g.19353138A>C | CA412393279 | PDHA1 | c.496A>C (p.Asn166His) c.475A>C (p.Asn159His) c.559A>C (p.Asn187His) c.589A>C (p.Asn197His) c.418+1731A>C (n.418+1731A>C) c.419-1353A>C (n.419-1353A>C) n.310A>C c.610A>C (p.Asn204His) | |
| X | g.19353138A>G | CA412393280 | PDHA1 | c.496A>G (p.Asn166Asp) c.475A>G (p.Asn159Asp) c.559A>G (p.Asn187Asp) c.589A>G (p.Asn197Asp) c.418+1731A>G (n.418+1731A>G) c.419-1353A>G (n.419-1353A>G) n.310A>G c.610A>G (p.Asn204Asp) | |
| X | g.19353138A>T | CA412393277 | PDHA1 | c.496A>T (p.Asn166Tyr) c.475A>T (p.Asn159Tyr) c.559A>T (p.Asn187Tyr) c.589A>T (p.Asn197Tyr) c.418+1731A>T (n.418+1731A>T) c.419-1353A>T (n.419-1353A>T) n.310A>T c.610A>T (p.Asn204Tyr) | |
| X | g.19353139A>C | CA412393282 | PDHA1 | c.497A>C (p.Asn166Thr) c.476A>C (p.Asn159Thr) c.560A>C (p.Asn187Thr) c.590A>C (p.Asn197Thr) c.418+1732A>C (n.418+1732A>C) c.419-1352A>C (n.419-1352A>C) n.311A>C c.611A>C (p.Asn204Thr) | |
| X | g.19353139A>G | CA412393284 | PDHA1 | c.497A>G (p.Asn166Ser) c.476A>G (p.Asn159Ser) c.560A>G (p.Asn187Ser) c.590A>G (p.Asn197Ser) c.418+1732A>G (n.418+1732A>G) c.419-1352A>G (n.419-1352A>G) n.311A>G c.611A>G (p.Asn204Ser) | |
| X | g.19353139A>T | CA412393286 | PDHA1 | c.497A>T (p.Asn166Ile) c.476A>T (p.Asn159Ile) c.560A>T (p.Asn187Ile) c.590A>T (p.Asn197Ile) c.418+1732A>T (n.418+1732A>T) c.419-1352A>T (n.419-1352A>T) n.311A>T c.611A>T (p.Asn204Ile) | |
| X | g.19353140C>A | CA412393289 | PDHA1 | c.498C>A (p.Asn166Lys) c.477C>A (p.Asn159Lys) c.561C>A (p.Asn187Lys) c.591C>A (p.Asn197Lys) c.418+1733C>A (n.418+1733C>A) c.419-1351C>A (n.419-1351C>A) n.312C>A c.612C>A (p.Asn204Lys) | |
| X | g.19353140C= | CA2418222793 | PDHA1 | c.498C= (p.Asn166=) c.477C= (p.Asn159=) c.561C= (p.Asn187=) c.591C= (p.Asn197=) c.418+1733C= (n.418+1733C=) c.419-1351C= (n.419-1351C=) n.312C= c.612C= (p.Asn204=) | |
| X | g.19353140C>G | CA412393291 | PDHA1 | c.498C>G (p.Asn166Lys) c.477C>G (p.Asn159Lys) c.561C>G (p.Asn187Lys) c.591C>G (p.Asn197Lys) c.418+1733C>G (n.418+1733C>G) c.419-1351C>G (n.419-1351C>G) n.312C>G c.612C>G (p.Asn204Lys) | |
| X | g.19353140C>T | CA515485890 | PDHA1 | c.498C>T (p.Asn166=) c.477C>T (p.Asn159=) c.561C>T (p.Asn187=) c.591C>T (p.Asn197=) c.418+1733C>T (n.418+1733C>T) c.419-1351C>T (n.419-1351C>T) n.312C>T c.612C>T (p.Asn204=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.19353141T>A | CA412393296 | PDHA1 | c.499T>A (p.Phe167Ile) c.478T>A (p.Phe160Ile) c.562T>A (p.Phe188Ile) c.592T>A (p.Phe198Ile) c.418+1734T>A (n.418+1734T>A) c.419-1350T>A (n.419-1350T>A) n.313T>A c.613T>A (p.Phe205Ile) | |
| X | g.19353141T>C | CA412393293 | PDHA1 | c.499T>C (p.Phe167Leu) c.478T>C (p.Phe160Leu) c.562T>C (p.Phe188Leu) c.592T>C (p.Phe198Leu) c.418+1734T>C (n.418+1734T>C) c.419-1350T>C (n.419-1350T>C) n.313T>C c.613T>C (p.Phe205Leu) | |
| X | g.19353141T>G | CA412393295 | PDHA1 | c.499T>G (p.Phe167Val) c.478T>G (p.Phe160Val) c.562T>G (p.Phe188Val) c.592T>G (p.Phe198Val) c.418+1734T>G (n.418+1734T>G) c.419-1350T>G (n.419-1350T>G) n.313T>G c.613T>G (p.Phe205Val) | |
| X | g.19353142T>A | CA412393299 | PDHA1 | c.500T>A (p.Phe167Tyr) c.479T>A (p.Phe160Tyr) c.563T>A (p.Phe188Tyr) c.593T>A (p.Phe198Tyr) c.418+1735T>A (n.418+1735T>A) c.419-1349T>A (n.419-1349T>A) n.314T>A c.614T>A (p.Phe205Tyr) | |
| X | g.19353142T>C | CA412393301 | PDHA1 | c.500T>C (p.Phe167Ser) c.479T>C (p.Phe160Ser) c.563T>C (p.Phe188Ser) c.593T>C (p.Phe198Ser) c.418+1735T>C (n.418+1735T>C) c.419-1349T>C (n.419-1349T>C) n.314T>C c.614T>C (p.Phe205Ser) | |
| X | g.19353142T>G | CA412393302 | PDHA1 | c.500T>G (p.Phe167Cys) c.479T>G (p.Phe160Cys) c.563T>G (p.Phe188Cys) c.593T>G (p.Phe198Cys) c.418+1735T>G (n.418+1735T>G) c.419-1349T>G (n.419-1349T>G) n.314T>G c.614T>G (p.Phe205Cys) | |
| X | g.19353143C>A | CA412393304 | PDHA1 | c.501C>A (p.Phe167Leu) c.480C>A (p.Phe160Leu) c.564C>A (p.Phe188Leu) c.594C>A (p.Phe198Leu) c.418+1736C>A (n.418+1736C>A) c.419-1348C>A (n.419-1348C>A) n.315C>A c.615C>A (p.Phe205Leu) | |
| X | g.19353143C>G | CA412393306 | PDHA1 | c.501C>G (p.Phe167Leu) c.480C>G (p.Phe160Leu) c.564C>G (p.Phe188Leu) c.594C>G (p.Phe198Leu) c.418+1736C>G (n.418+1736C>G) c.419-1348C>G (n.419-1348C>G) n.315C>G c.615C>G (p.Phe205Leu) | |
| X | g.19353143C>T | CA515485891 | PDHA1 | c.501C>T (p.Phe167=) c.480C>T (p.Phe160=) c.564C>T (p.Phe188=) c.594C>T (p.Phe198=) c.418+1736C>T (n.418+1736C>T) c.419-1348C>T (n.419-1348C>T) n.315C>T c.615C>T (p.Phe205=) | |
| X | g.19353144T>A | CA412393312 | PDHA1 | c.502T>A (p.Tyr168Asn) c.481T>A (p.Tyr161Asn) c.565T>A (p.Tyr189Asn) c.595T>A (p.Tyr199Asn) c.418+1737T>A (n.418+1737T>A) c.419-1347T>A (n.419-1347T>A) n.316T>A c.616T>A (p.Tyr206Asn) | |
| X | g.19353144T>C | CA412393308 | PDHA1 | c.502T>C (p.Tyr168His) c.481T>C (p.Tyr161His) c.565T>C (p.Tyr189His) c.595T>C (p.Tyr199His) c.418+1737T>C (n.418+1737T>C) c.419-1347T>C (n.419-1347T>C) n.316T>C c.616T>C (p.Tyr206His) | |
| X | g.19353144T>G | CA412393310 | PDHA1 | c.502T>G (p.Tyr168Asp) c.481T>G (p.Tyr161Asp) c.565T>G (p.Tyr189Asp) c.595T>G (p.Tyr199Asp) c.418+1737T>G (n.418+1737T>G) c.419-1347T>G (n.419-1347T>G) n.316T>G c.616T>G (p.Tyr206Asp) | |
| X | g.19353145A= | CA2418222794 | PDHA1 | c.503A= (p.Tyr168=) c.482A= (p.Tyr161=) c.566A= (p.Tyr189=) c.596A= (p.Tyr199=) c.418+1738A= (n.418+1738A=) c.419-1346A= (n.419-1346A=) n.317A= c.617A= (p.Tyr206=) | |
| X | g.19353145A>C | CA412393314 | PDHA1 | c.503A>C (p.Tyr168Ser) c.482A>C (p.Tyr161Ser) c.566A>C (p.Tyr189Ser) c.596A>C (p.Tyr199Ser) c.418+1738A>C (n.418+1738A>C) c.419-1346A>C (n.419-1346A>C) n.317A>C c.617A>C (p.Tyr206Ser) | |
| X | g.19353145A>G | CA412393316 | PDHA1 | c.503A>G (p.Tyr168Cys) c.482A>G (p.Tyr161Cys) c.566A>G (p.Tyr189Cys) c.596A>G (p.Tyr199Cys) c.418+1738A>G (n.418+1738A>G) c.419-1346A>G (n.419-1346A>G) n.317A>G c.617A>G (p.Tyr206Cys) | ClinVar dbSNP |
| X | g.19353145A>T | CA412393318 | PDHA1 | c.503A>T (p.Tyr168Phe) c.482A>T (p.Tyr161Phe) c.566A>T (p.Tyr189Phe) c.596A>T (p.Tyr199Phe) c.418+1738A>T (n.418+1738A>T) c.419-1346A>T (n.419-1346A>T) n.317A>T c.617A>T (p.Tyr206Phe) | |
| X | g.19353146C>A | CA412393321 | PDHA1 | c.504C>A (p.Tyr168Ter) c.483C>A (p.Tyr161Ter) c.567C>A (p.Tyr189Ter) c.597C>A (p.Tyr199Ter) c.418+1739C>A (n.418+1739C>A) c.419-1345C>A (n.419-1345C>A) n.318C>A c.618C>A (p.Tyr206Ter) | gnomAD v4 |
| X | g.19353146C= | CA2418222795 | PDHA1 | c.504C= (p.Tyr168=) c.483C= (p.Tyr161=) c.567C= (p.Tyr189=) c.597C= (p.Tyr199=) c.418+1739C= (n.418+1739C=) c.419-1345C= (n.419-1345C=) n.318C= c.618C= (p.Tyr206=) | |
| X | g.19353146C>G | CA412393323 | PDHA1 | c.504C>G (p.Tyr168Ter) c.483C>G (p.Tyr161Ter) c.567C>G (p.Tyr189Ter) c.597C>G (p.Tyr199Ter) c.418+1739C>G (n.418+1739C>G) c.419-1345C>G (n.419-1345C>G) n.318C>G c.618C>G (p.Tyr206Ter) | |
| X | g.19353146C>T | CA220607 | PDHA1 | c.504C>T (p.Tyr168=) c.483C>T (p.Tyr161=) c.567C>T (p.Tyr189=) c.597C>T (p.Tyr199=) c.418+1739C>T (n.418+1739C>T) c.419-1345C>T (n.419-1345C>T) n.318C>T c.618C>T (p.Tyr206=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19353147G>A | CA327025492 | PDHA1 | c.505G>A (p.Gly169Arg) c.484G>A (p.Gly162Arg) c.568G>A (p.Gly190Arg) c.598G>A (p.Gly200Arg) c.418+1740G>A (n.418+1740G>A) c.419-1344G>A (n.419-1344G>A) n.319G>A c.619G>A (p.Gly207Arg) | dbSNP |
| X | g.19353147G>C | CA412393328 | PDHA1 | c.505G>C (p.Gly169Arg) c.484G>C (p.Gly162Arg) c.568G>C (p.Gly190Arg) c.598G>C (p.Gly200Arg) c.418+1740G>C (n.418+1740G>C) c.419-1344G>C (n.419-1344G>C) n.319G>C c.619G>C (p.Gly207Arg) | |
| X | g.19353147G= | CA2418222796 | PDHA1 | c.505G= (p.Gly169=) c.484G= (p.Gly162=) c.568G= (p.Gly190=) c.598G= (p.Gly200=) c.418+1740G= (n.418+1740G=) c.419-1344G= (n.419-1344G=) n.319G= c.619G= (p.Gly207=) | |
| X | g.19353147G>T | CA412393329 | PDHA1 | c.505G>T (p.Gly169Trp) c.484G>T (p.Gly162Trp) c.568G>T (p.Gly190Trp) c.598G>T (p.Gly200Trp) c.418+1740G>T (n.418+1740G>T) c.419-1344G>T (n.419-1344G>T) n.319G>T c.619G>T (p.Gly207Trp) | |
| X | g.19353151dup | CA2819936599 | PDHA1 | c.509dup (p.Asn171GlnfsTer19) c.488dup (p.Asn164GlnfsTer?) c.572dup (p.Asn192GlnfsTer19) c.602dup (p.Asn202GlnfsTer19) c.418+1744dup (n.418+1744dup) c.419-1340dup (n.419-1340dup) c.488dup (p.Asn164GlnfsTer19) c.602dup (p.Asn202GlnfsTer?) n.323dup c.488dup (p.Asn164GlnfsTer29) c.623dup (p.Asn209GlnfsTer19) c.623dup (p.Asn209GlnfsTer29) c.602dup (p.Asn202GlnfsTer29) | |
| X | g.19353151del | CA2579566249 | PDHA1 | c.509del (p.Gly170AlafsTer17) c.488del (p.Gly163AlafsTer9) c.572del (p.Gly191AlafsTer17) c.602del (p.Gly201AlafsTer17) c.418+1744del (n.418+1744del) c.419-1340del (n.419-1340del) c.488del (p.Gly163AlafsTer17) c.602del (p.Gly201AlafsTer?) n.323del c.488del (p.Gly163AlafsTer?) c.623del (p.Gly208AlafsTer17) c.623del (p.Gly208AlafsTer?) | |
| X | g.19353148G>A | CA412393331 | PDHA1 | c.506G>A (p.Gly169Glu) c.485G>A (p.Gly162Glu) c.569G>A (p.Gly190Glu) c.599G>A (p.Gly200Glu) c.418+1741G>A (n.418+1741G>A) c.419-1343G>A (n.419-1343G>A) n.320G>A c.620G>A (p.Gly207Glu) | |
| X | g.19353148G>C | CA412393333 | PDHA1 | c.506G>C (p.Gly169Ala) c.485G>C (p.Gly162Ala) c.569G>C (p.Gly190Ala) c.599G>C (p.Gly200Ala) c.418+1741G>C (n.418+1741G>C) c.419-1343G>C (n.419-1343G>C) n.320G>C c.620G>C (p.Gly207Ala) | |
| X | g.19353148G>T | CA412393335 | PDHA1 | c.506G>T (p.Gly169Val) c.485G>T (p.Gly162Val) c.569G>T (p.Gly190Val) c.599G>T (p.Gly200Val) c.418+1741G>T (n.418+1741G>T) c.419-1343G>T (n.419-1343G>T) n.320G>T c.620G>T (p.Gly207Val) | |
| X | g.19353149G>A | CA515485892 | PDHA1 | c.507G>A (p.Gly169=) c.486G>A (p.Gly162=) c.570G>A (p.Gly190=) c.600G>A (p.Gly200=) c.418+1742G>A (n.418+1742G>A) c.419-1342G>A (n.419-1342G>A) n.321G>A c.621G>A (p.Gly207=) | |
| X | g.19353149G>C | CA515485893 | PDHA1 | c.507G>C (p.Gly169=) c.486G>C (p.Gly162=) c.570G>C (p.Gly190=) c.600G>C (p.Gly200=) c.418+1742G>C (n.418+1742G>C) c.419-1342G>C (n.419-1342G>C) n.321G>C c.621G>C (p.Gly207=) | |
| X | g.19353149G= | CA2418222797 | PDHA1 | c.507G= (p.Gly169=) c.486G= (p.Gly162=) c.570G= (p.Gly190=) c.600G= (p.Gly200=) c.418+1742G= (n.418+1742G=) c.419-1342G= (n.419-1342G=) n.321G= c.621G= (p.Gly207=) | |
| X | g.19353149G>T | CA10363042 | PDHA1 | c.507G>T (p.Gly169=) c.486G>T (p.Gly162=) c.570G>T (p.Gly190=) c.600G>T (p.Gly200=) c.418+1742G>T (n.418+1742G>T) c.419-1342G>T (n.419-1342G>T) n.321G>T c.621G>T (p.Gly207=) | dbSNP ExAC gnomAD v4 |
| X | g.19353150G>A | CA412393340 | PDHA1 | c.508G>A (p.Gly170Ser) c.487G>A (p.Gly163Ser) c.571G>A (p.Gly191Ser) c.601G>A (p.Gly201Ser) c.418+1743G>A (n.418+1743G>A) c.419-1341G>A (n.419-1341G>A) n.322G>A c.622G>A (p.Gly208Ser) | |
| X | g.19353150G>C | CA412393348 | PDHA1 | c.508G>C (p.Gly170Arg) c.487G>C (p.Gly163Arg) c.571G>C (p.Gly191Arg) c.601G>C (p.Gly201Arg) c.418+1743G>C (n.418+1743G>C) c.419-1341G>C (n.419-1341G>C) n.322G>C c.622G>C (p.Gly208Arg) | |
| X | g.19353150G>T | CA412393342 | PDHA1 | c.508G>T (p.Gly170Cys) c.487G>T (p.Gly163Cys) c.571G>T (p.Gly191Cys) c.601G>T (p.Gly201Cys) c.418+1743G>T (n.418+1743G>T) c.419-1341G>T (n.419-1341G>T) n.322G>T c.622G>T (p.Gly208Cys) | |
| X | g.19353151G>A | CA412393351 | PDHA1 | c.509G>A (p.Gly170Asp) c.488G>A (p.Gly163Asp) c.572G>A (p.Gly191Asp) c.602G>A (p.Gly201Asp) c.418+1744G>A (n.418+1744G>A) c.419-1340G>A (n.419-1340G>A) n.323G>A c.623G>A (p.Gly208Asp) | |
| X | g.19353151G>C | CA412393352 | PDHA1 | c.509G>C (p.Gly170Ala) c.488G>C (p.Gly163Ala) c.572G>C (p.Gly191Ala) c.602G>C (p.Gly201Ala) c.418+1744G>C (n.418+1744G>C) c.419-1340G>C (n.419-1340G>C) n.323G>C c.623G>C (p.Gly208Ala) | |
| X | g.19353151G>T | CA412393353 | PDHA1 | c.509G>T (p.Gly170Val) c.488G>T (p.Gly163Val) c.572G>T (p.Gly191Val) c.602G>T (p.Gly201Val) c.418+1744G>T (n.418+1744G>T) c.419-1340G>T (n.419-1340G>T) n.323G>T c.623G>T (p.Gly208Val) | |
| X | g.19353152C>A | CA515485894 | PDHA1 | c.510C>A (p.Gly170=) c.489C>A (p.Gly163=) c.573C>A (p.Gly191=) c.603C>A (p.Gly201=) c.418+1745C>A (n.418+1745C>A) c.419-1339C>A (n.419-1339C>A) n.324C>A c.624C>A (p.Gly208=) | gnomAD v4 |
| X | g.19353152C= | CA2418222798 | PDHA1 | c.510C= (p.Gly170=) c.489C= (p.Gly163=) c.573C= (p.Gly191=) c.603C= (p.Gly201=) c.418+1745C= (n.418+1745C=) c.419-1339C= (n.419-1339C=) n.324C= c.624C= (p.Gly208=) | |
| X | g.19353152C>G | CA515485895 | PDHA1 | c.510C>G (p.Gly170=) c.489C>G (p.Gly163=) c.573C>G (p.Gly191=) c.603C>G (p.Gly201=) c.418+1745C>G (n.418+1745C>G) c.419-1339C>G (n.419-1339C>G) n.324C>G c.624C>G (p.Gly208=) | |
| X | g.19353152C>T | CA515485896 | PDHA1 | c.510C>T (p.Gly170=) c.489C>T (p.Gly163=) c.573C>T (p.Gly191=) c.603C>T (p.Gly201=) c.418+1745C>T (n.418+1745C>T) c.419-1339C>T (n.419-1339C>T) n.324C>T c.624C>T (p.Gly208=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19353153A>C | CA412393356 | PDHA1 | c.511A>C (p.Asn171His) c.490A>C (p.Asn164His) c.574A>C (p.Asn192His) c.604A>C (p.Asn202His) c.418+1746A>C (n.418+1746A>C) c.419-1338A>C (n.419-1338A>C) n.325A>C c.625A>C (p.Asn209His) | |
| X | g.19353153A>G | CA412393360 | PDHA1 | c.511A>G (p.Asn171Asp) c.490A>G (p.Asn164Asp) c.574A>G (p.Asn192Asp) c.604A>G (p.Asn202Asp) c.418+1746A>G (n.418+1746A>G) c.419-1338A>G (n.419-1338A>G) n.325A>G c.625A>G (p.Asn209Asp) | |
| X | g.19353153A>T | CA412393363 | PDHA1 | c.511A>T (p.Asn171Tyr) c.490A>T (p.Asn164Tyr) c.574A>T (p.Asn192Tyr) c.604A>T (p.Asn202Tyr) c.418+1746A>T (n.418+1746A>T) c.419-1338A>T (n.419-1338A>T) n.325A>T c.625A>T (p.Asn209Tyr) | |
| X | g.19353154A= | CA2418222799 | PDHA1 | c.512A= (p.Asn171=) c.491A= (p.Asn164=) c.575A= (p.Asn192=) c.605A= (p.Asn202=) c.418+1747A= (n.418+1747A=) c.419-1337A= (n.419-1337A=) n.326A= c.626A= (p.Asn209=) | |
| X | g.19353154A>C | CA412393367 | PDHA1 | c.512A>C (p.Asn171Thr) c.491A>C (p.Asn164Thr) c.575A>C (p.Asn192Thr) c.605A>C (p.Asn202Thr) c.418+1747A>C (n.418+1747A>C) c.419-1337A>C (n.419-1337A>C) n.326A>C c.626A>C (p.Asn209Thr) | dbSNP |
| X | g.19353154A>G | CA412393370 | PDHA1 | c.512A>G (p.Asn171Ser) c.491A>G (p.Asn164Ser) c.575A>G (p.Asn192Ser) c.605A>G (p.Asn202Ser) c.418+1747A>G (n.418+1747A>G) c.419-1337A>G (n.419-1337A>G) n.326A>G c.626A>G (p.Asn209Ser) | ClinVar dbSNP |
| X | g.19353154A>T | CA412393375 | PDHA1 | c.512A>T (p.Asn171Ile) c.491A>T (p.Asn164Ile) c.575A>T (p.Asn192Ile) c.605A>T (p.Asn202Ile) c.418+1747A>T (n.418+1747A>T) c.419-1337A>T (n.419-1337A>T) n.326A>T c.626A>T (p.Asn209Ile) | |
| X | g.19353155T>A | CA412393377 | PDHA1 | c.513T>A (p.Asn171Lys) c.492T>A (p.Asn164Lys) c.576T>A (p.Asn192Lys) c.606T>A (p.Asn202Lys) c.418+1748T>A (n.418+1748T>A) c.419-1336T>A (n.419-1336T>A) n.327T>A c.627T>A (p.Asn209Lys) | |
| X | g.19353155T>C | CA515485897 | PDHA1 | c.513T>C (p.Asn171=) c.492T>C (p.Asn164=) c.576T>C (p.Asn192=) c.606T>C (p.Asn202=) c.418+1748T>C (n.418+1748T>C) c.419-1336T>C (n.419-1336T>C) n.327T>C c.627T>C (p.Asn209=) | |
| X | g.19353155T>G | CA412393381 | PDHA1 | c.513T>G (p.Asn171Lys) c.492T>G (p.Asn164Lys) c.576T>G (p.Asn192Lys) c.606T>G (p.Asn202Lys) c.418+1748T>G (n.418+1748T>G) c.419-1336T>G (n.419-1336T>G) n.327T>G c.627T>G (p.Asn209Lys) | |
| X | g.19353156G>A | CA412393389 | PDHA1 | c.514G>A (p.Gly172Ser) c.493G>A (p.Gly165Ser) c.577G>A (p.Gly193Ser) c.607G>A (p.Gly203Ser) c.418+1749G>A (n.418+1749G>A) c.419-1335G>A (n.419-1335G>A) n.328G>A c.628G>A (p.Gly210Ser) | |
| X | g.19353156G>C | CA412393387 | PDHA1 | c.514G>C (p.Gly172Arg) c.493G>C (p.Gly165Arg) c.577G>C (p.Gly193Arg) c.607G>C (p.Gly203Arg) c.418+1749G>C (n.418+1749G>C) c.419-1335G>C (n.419-1335G>C) n.328G>C c.628G>C (p.Gly210Arg) | |
| X | g.19353156G>T | CA412393384 | PDHA1 | c.514G>T (p.Gly172Cys) c.493G>T (p.Gly165Cys) c.577G>T (p.Gly193Cys) c.607G>T (p.Gly203Cys) c.418+1749G>T (n.418+1749G>T) c.419-1335G>T (n.419-1335G>T) n.328G>T c.628G>T (p.Gly210Cys) | |
| X | g.19353157G>A | CA412393394 | PDHA1 | c.515G>A (p.Gly172Asp) c.494G>A (p.Gly165Asp) c.578G>A (p.Gly193Asp) c.608G>A (p.Gly203Asp) c.418+1750G>A (n.418+1750G>A) c.419-1334G>A (n.419-1334G>A) n.329G>A c.629G>A (p.Gly210Asp) | |
| X | g.19353157G>C | CA412393396 | PDHA1 | c.515G>C (p.Gly172Ala) c.494G>C (p.Gly165Ala) c.578G>C (p.Gly193Ala) c.608G>C (p.Gly203Ala) c.418+1750G>C (n.418+1750G>C) c.419-1334G>C (n.419-1334G>C) n.329G>C c.629G>C (p.Gly210Ala) | |
| X | g.19353157G>T | CA412393400 | PDHA1 | c.515G>T (p.Gly172Val) c.494G>T (p.Gly165Val) c.578G>T (p.Gly193Val) c.608G>T (p.Gly203Val) c.418+1750G>T (n.418+1750G>T) c.419-1334G>T (n.419-1334G>T) n.329G>T c.629G>T (p.Gly210Val) | |
| X | g.19353158C>A | CA515485898 | PDHA1 | c.516C>A (p.Gly172=) c.495C>A (p.Gly165=) c.579C>A (p.Gly193=) c.609C>A (p.Gly203=) c.418+1751C>A (n.418+1751C>A) c.419-1333C>A (n.419-1333C>A) n.330C>A c.630C>A (p.Gly210=) | |
| X | g.19353158C>G | CA515485900 | PDHA1 | c.516C>G (p.Gly172=) c.495C>G (p.Gly165=) c.579C>G (p.Gly193=) c.609C>G (p.Gly203=) c.418+1751C>G (n.418+1751C>G) c.419-1333C>G (n.419-1333C>G) n.330C>G c.630C>G (p.Gly210=) | |
| X | g.19353158C>T | CA515485899 | PDHA1 | c.516C>T (p.Gly172=) c.495C>T (p.Gly165=) c.579C>T (p.Gly193=) c.609C>T (p.Gly203=) c.418+1751C>T (n.418+1751C>T) c.419-1333C>T (n.419-1333C>T) n.330C>T c.630C>T (p.Gly210=) | |
| X | g.19353159A>C | CA412393404 | PDHA1 | c.517A>C (p.Ile173Leu) c.496A>C (p.Ile166Leu) c.580A>C (p.Ile194Leu) c.610A>C (p.Ile204Leu) c.418+1752A>C (n.418+1752A>C) c.419-1332A>C (n.419-1332A>C) n.331A>C c.631A>C (p.Ile211Leu) | |
| X | g.19353159A>G | CA412393407 | PDHA1 | c.517A>G (p.Ile173Val) c.496A>G (p.Ile166Val) c.580A>G (p.Ile194Val) c.610A>G (p.Ile204Val) c.418+1752A>G (n.418+1752A>G) c.419-1332A>G (n.419-1332A>G) n.331A>G c.631A>G (p.Ile211Val) | |
| X | g.19353159A>T | CA412393411 | PDHA1 | c.517A>T (p.Ile173Phe) c.496A>T (p.Ile166Phe) c.580A>T (p.Ile194Phe) c.610A>T (p.Ile204Phe) c.418+1752A>T (n.418+1752A>T) c.419-1332A>T (n.419-1332A>T) n.331A>T c.631A>T (p.Ile211Phe) | |
| X | g.19353160T>A | CA412393416 | PDHA1 | c.518T>A (p.Ile173Asn) c.497T>A (p.Ile166Asn) c.581T>A (p.Ile194Asn) c.611T>A (p.Ile204Asn) c.418+1753T>A (n.418+1753T>A) c.419-1331T>A (n.419-1331T>A) n.332T>A c.632T>A (p.Ile211Asn) | |
| X | g.19353160T>C | CA412393418 | PDHA1 | c.518T>C (p.Ile173Thr) c.497T>C (p.Ile166Thr) c.581T>C (p.Ile194Thr) c.611T>C (p.Ile204Thr) c.418+1753T>C (n.418+1753T>C) c.419-1331T>C (n.419-1331T>C) n.332T>C c.632T>C (p.Ile211Thr) | |
| X | g.19353160T>G | CA412393422 | PDHA1 | c.518T>G (p.Ile173Ser) c.497T>G (p.Ile166Ser) c.581T>G (p.Ile194Ser) c.611T>G (p.Ile204Ser) c.418+1753T>G (n.418+1753T>G) c.419-1331T>G (n.419-1331T>G) n.332T>G c.632T>G (p.Ile211Ser) | |
| X | g.19353161C>A | CA515485901 | PDHA1 | c.519C>A (p.Ile173=) c.498C>A (p.Ile166=) c.582C>A (p.Ile194=) c.612C>A (p.Ile204=) c.418+1754C>A (n.418+1754C>A) c.419-1330C>A (n.419-1330C>A) n.333C>A c.633C>A (p.Ile211=) | gnomAD v4 |
| X | g.19353161C>G | CA412393426 | PDHA1 | c.519C>G (p.Ile173Met) c.498C>G (p.Ile166Met) c.582C>G (p.Ile194Met) c.612C>G (p.Ile204Met) c.418+1754C>G (n.418+1754C>G) c.419-1330C>G (n.419-1330C>G) n.333C>G c.633C>G (p.Ile211Met) | |
| X | g.19353161C>T | CA515485902 | PDHA1 | c.519C>T (p.Ile173=) c.498C>T (p.Ile166=) c.582C>T (p.Ile194=) c.612C>T (p.Ile204=) c.418+1754C>T (n.418+1754C>T) c.419-1330C>T (n.419-1330C>T) n.333C>T c.633C>T (p.Ile211=) | ClinVar dbSNP gnomAD v4 |
| X | g.19353162G>A | CA412393429 | PDHA1 | c.520G>A (p.Val174Met) c.499G>A (p.Val167Met) c.583G>A (p.Val195Met) c.613G>A (p.Val205Met) c.418+1755G>A (n.418+1755G>A) c.419-1329G>A (n.419-1329G>A) n.334G>A c.634G>A (p.Val212Met) | ClinVar dbSNP COSMIC |
| X | g.19353162G>C | CA412393431 | PDHA1 | c.520G>C (p.Val174Leu) c.499G>C (p.Val167Leu) c.583G>C (p.Val195Leu) c.613G>C (p.Val205Leu) c.418+1755G>C (n.418+1755G>C) c.419-1329G>C (n.419-1329G>C) n.334G>C c.634G>C (p.Val212Leu) | ClinVar dbSNP |
| X | g.19353162G= | CA2418222800 | PDHA1 | c.520G= (p.Val174=) c.499G= (p.Val167=) c.583G= (p.Val195=) c.613G= (p.Val205=) c.418+1755G= (n.418+1755G=) c.419-1329G= (n.419-1329G=) n.334G= c.634G= (p.Val212=) | |
| X | g.19353162G>T | CA412393434 | PDHA1 | c.520G>T (p.Val174Leu) c.499G>T (p.Val167Leu) c.583G>T (p.Val195Leu) c.613G>T (p.Val205Leu) c.418+1755G>T (n.418+1755G>T) c.419-1329G>T (n.419-1329G>T) n.334G>T c.634G>T (p.Val212Leu) | |
| X | g.19353163T>A | CA412393440 | PDHA1 | c.521T>A (p.Val174Glu) c.500T>A (p.Val167Glu) c.584T>A (p.Val195Glu) c.614T>A (p.Val205Glu) c.418+1756T>A (n.418+1756T>A) c.419-1328T>A (n.419-1328T>A) n.335T>A c.635T>A (p.Val212Glu) | |
| X | g.19353163T>C | CA412393443 | PDHA1 | c.521T>C (p.Val174Ala) c.500T>C (p.Val167Ala) c.584T>C (p.Val195Ala) c.614T>C (p.Val205Ala) c.418+1756T>C (n.418+1756T>C) c.419-1328T>C (n.419-1328T>C) n.335T>C c.635T>C (p.Val212Ala) | gnomAD v4 |
| X | g.19353163T>G | CA412393437 | PDHA1 | c.521T>G (p.Val174Gly) c.500T>G (p.Val167Gly) c.584T>G (p.Val195Gly) c.614T>G (p.Val205Gly) c.418+1756T>G (n.418+1756T>G) c.419-1328T>G (n.419-1328T>G) n.335T>G c.635T>G (p.Val212Gly) | |
| X | g.19353164G>A | CA515485903 | PDHA1 | c.522G>A (p.Val174=) c.501G>A (p.Val167=) c.585G>A (p.Val195=) c.615G>A (p.Val205=) c.418+1757G>A (n.418+1757G>A) c.419-1327G>A (n.419-1327G>A) n.336G>A c.636G>A (p.Val212=) | gnomAD v4 |
| X | g.19353164G>C | CA515485904 | PDHA1 | c.522G>C (p.Val174=) c.501G>C (p.Val167=) c.585G>C (p.Val195=) c.615G>C (p.Val205=) c.418+1757G>C (n.418+1757G>C) c.419-1327G>C (n.419-1327G>C) n.336G>C c.636G>C (p.Val212=) | ClinVar dbSNP |
| X | g.19353164G>T | CA515485905 | PDHA1 | c.522G>T (p.Val174=) c.501G>T (p.Val167=) c.585G>T (p.Val195=) c.615G>T (p.Val205=) c.418+1757G>T (n.418+1757G>T) c.419-1327G>T (n.419-1327G>T) n.336G>T c.636G>T (p.Val212=) | |
| X | g.19353166del | CA2579566250 | PDHA1 | c.524del (p.Gly175GlufsTer12) c.503del (p.Gly168GlufsTer4) c.587del (p.Gly196GlufsTer12) c.617del (p.Gly206GlufsTer12) c.418+1759del (n.418+1759del) c.419-1325del (n.419-1325del) c.503del (p.Gly168GlufsTer12) n.338del c.503del (p.Gly168GlufsTer?) c.638del (p.Gly213GlufsTer12) c.638del (p.Gly213GlufsTer?) c.617del (p.Gly206GlufsTer?) | gnomAD v4 |
| X | g.19353165G>A | CA412393446 | PDHA1 | c.523G>A (p.Gly175Arg) c.502G>A (p.Gly168Arg) c.586G>A (p.Gly196Arg) c.616G>A (p.Gly206Arg) c.418+1758G>A (n.418+1758G>A) c.419-1326G>A (n.419-1326G>A) n.337G>A c.637G>A (p.Gly213Arg) | |
| X | g.19353165G>C | CA412393447 | PDHA1 | c.523G>C (p.Gly175Arg) c.502G>C (p.Gly168Arg) c.586G>C (p.Gly196Arg) c.616G>C (p.Gly206Arg) c.418+1758G>C (n.418+1758G>C) c.419-1326G>C (n.419-1326G>C) n.337G>C c.637G>C (p.Gly213Arg) | |
| X | g.19353165G>T | CA412393450 | PDHA1 | c.523G>T (p.Gly175Ter) c.502G>T (p.Gly168Ter) c.586G>T (p.Gly196Ter) c.616G>T (p.Gly206Ter) c.418+1758G>T (n.418+1758G>T) c.419-1326G>T (n.419-1326G>T) n.337G>T c.637G>T (p.Gly213Ter) | |
| X | g.19353166G>A | CA412393454 | PDHA1 | c.524G>A (p.Gly175Glu) c.503G>A (p.Gly168Glu) c.587G>A (p.Gly196Glu) c.617G>A (p.Gly206Glu) c.418+1759G>A (n.418+1759G>A) c.419-1325G>A (n.419-1325G>A) n.338G>A c.638G>A (p.Gly213Glu) | |
| X | g.19353166G>C | CA412393456 | PDHA1 | c.524G>C (p.Gly175Ala) c.503G>C (p.Gly168Ala) c.587G>C (p.Gly196Ala) c.617G>C (p.Gly206Ala) c.418+1759G>C (n.418+1759G>C) c.419-1325G>C (n.419-1325G>C) n.338G>C c.638G>C (p.Gly213Ala) | |
| X | g.19353166G>T | CA412393459 | PDHA1 | c.524G>T (p.Gly175Val) c.503G>T (p.Gly168Val) c.587G>T (p.Gly196Val) c.617G>T (p.Gly206Val) c.418+1759G>T (n.418+1759G>T) c.419-1325G>T (n.419-1325G>T) n.338G>T c.638G>T (p.Gly213Val) | |
| X | g.19353167A>C | CA515485906 | PDHA1 | c.525A>C (p.Gly175=) c.504A>C (p.Gly168=) c.588A>C (p.Gly196=) c.618A>C (p.Gly206=) c.418+1760A>C (n.418+1760A>C) c.419-1324A>C (n.419-1324A>C) n.339A>C c.639A>C (p.Gly213=) | |
| X | g.19353167A>G | CA515485907 | PDHA1 | c.525A>G (p.Gly175=) c.504A>G (p.Gly168=) c.588A>G (p.Gly196=) c.618A>G (p.Gly206=) c.418+1760A>G (n.418+1760A>G) c.419-1324A>G (n.419-1324A>G) n.339A>G c.639A>G (p.Gly213=) | |
| X | g.19353167A>T | CA515485908 | PDHA1 | c.525A>T (p.Gly175=) c.504A>T (p.Gly168=) c.588A>T (p.Gly196=) c.618A>T (p.Gly206=) c.418+1760A>T (n.418+1760A>T) c.419-1324A>T (n.419-1324A>T) n.339A>T c.639A>T (p.Gly213=) | |
| X | g.19353168G>A | CA412393462 | PDHA1 | c.526G>A (p.Ala176Thr) c.505G>A (p.Ala169Thr) c.589G>A (p.Ala197Thr) c.619G>A (p.Ala207Thr) c.418+1761G>A (n.418+1761G>A) c.419-1323G>A (n.419-1323G>A) n.340G>A c.640G>A (p.Ala214Thr) | gnomAD v4 |
| X | g.19353168G>C | CA412393465 | PDHA1 | c.526G>C (p.Ala176Pro) c.505G>C (p.Ala169Pro) c.589G>C (p.Ala197Pro) c.619G>C (p.Ala207Pro) c.418+1761G>C (n.418+1761G>C) c.419-1323G>C (n.419-1323G>C) n.340G>C c.640G>C (p.Ala214Pro) | |
| X | g.19353168G>T | CA412393469 | PDHA1 | c.526G>T (p.Ala176Ser) c.505G>T (p.Ala169Ser) c.589G>T (p.Ala197Ser) c.619G>T (p.Ala207Ser) c.418+1761G>T (n.418+1761G>T) c.419-1323G>T (n.419-1323G>T) n.340G>T c.640G>T (p.Ala214Ser) | |
| X | g.19353169C>A | CA412393474 | PDHA1 | c.527C>A (p.Ala176Glu) c.506C>A (p.Ala169Glu) c.590C>A (p.Ala197Glu) c.620C>A (p.Ala207Glu) c.418+1762C>A (n.418+1762C>A) c.419-1322C>A (n.419-1322C>A) n.341C>A c.641C>A (p.Ala214Glu) | |
| X | g.19353169C= | CA2418222801 | PDHA1 | c.527C= (p.Ala176=) c.506C= (p.Ala169=) c.590C= (p.Ala197=) c.620C= (p.Ala207=) c.418+1762C= (n.418+1762C=) c.419-1322C= (n.419-1322C=) n.341C= c.641C= (p.Ala214=) | |
| X | g.19353169C>G | CA412393477 | PDHA1 | c.527C>G (p.Ala176Gly) c.506C>G (p.Ala169Gly) c.590C>G (p.Ala197Gly) c.620C>G (p.Ala207Gly) c.418+1762C>G (n.418+1762C>G) c.419-1322C>G (n.419-1322C>G) n.341C>G c.641C>G (p.Ala214Gly) | |
| X | g.19353169C>T | CA323959 | PDHA1 | c.527C>T (p.Ala176Val) c.506C>T (p.Ala169Val) c.590C>T (p.Ala197Val) c.620C>T (p.Ala207Val) c.418+1762C>T (n.418+1762C>T) c.419-1322C>T (n.419-1322C>T) n.341C>T c.641C>T (p.Ala214Val) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.19353170G>A | CA10363043 | PDHA1 | c.528G>A (p.Ala176=) c.507G>A (p.Ala169=) c.591G>A (p.Ala197=) c.621G>A (p.Ala207=) c.418+1763G>A (n.418+1763G>A) c.419-1321G>A (n.419-1321G>A) n.342G>A c.642G>A (p.Ala214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19353170G>C | CA515485910 | PDHA1 | c.528G>C (p.Ala176=) c.507G>C (p.Ala169=) c.591G>C (p.Ala197=) c.621G>C (p.Ala207=) c.418+1763G>C (n.418+1763G>C) c.419-1321G>C (n.419-1321G>C) n.342G>C c.642G>C (p.Ala214=) | |
| X | g.19353170G= | CA2418222802 | PDHA1 | c.528G= (p.Ala176=) c.507G= (p.Ala169=) c.591G= (p.Ala197=) c.621G= (p.Ala207=) c.418+1763G= (n.418+1763G=) c.419-1321G= (n.419-1321G=) n.342G= c.642G= (p.Ala214=) | |
| X | g.19353170G>T | CA515485909 | PDHA1 | c.528G>T (p.Ala176=) c.507G>T (p.Ala169=) c.591G>T (p.Ala197=) c.621G>T (p.Ala207=) c.418+1763G>T (n.418+1763G>T) c.419-1321G>T (n.419-1321G>T) n.342G>T c.642G>T (p.Ala214=) | gnomAD v4 COSMIC COSMIC |
| X | g.19353171C>A | CA412393489 | PDHA1 | c.529C>A (p.Gln177Lys) c.508C>A (p.Gln170Lys) c.592C>A (p.Gln198Lys) c.622C>A (p.Gln208Lys) c.418+1764C>A (n.418+1764C>A) c.419-1320C>A (n.419-1320C>A) n.343C>A c.643C>A (p.Gln215Lys) | gnomAD v4 |
| X | g.19353171C>G | CA412393485 | PDHA1 | c.529C>G (p.Gln177Glu) c.508C>G (p.Gln170Glu) c.592C>G (p.Gln198Glu) c.622C>G (p.Gln208Glu) c.418+1764C>G (n.418+1764C>G) c.419-1320C>G (n.419-1320C>G) n.343C>G c.643C>G (p.Gln215Glu) | |
| X | g.19353171C>T | CA412393482 | PDHA1 | c.529C>T (p.Gln177Ter) c.508C>T (p.Gln170Ter) c.592C>T (p.Gln198Ter) c.622C>T (p.Gln208Ter) c.418+1764C>T (n.418+1764C>T) c.419-1320C>T (n.419-1320C>T) n.343C>T c.643C>T (p.Gln215Ter) | |
| X | g.19353172A>C | CA412393493 | PDHA1 | c.530A>C (p.Gln177Pro) c.509A>C (p.Gln170Pro) c.593A>C (p.Gln198Pro) c.623A>C (p.Gln208Pro) c.418+1765A>C (n.418+1765A>C) c.419-1319A>C (n.419-1319A>C) n.344A>C c.644A>C (p.Gln215Pro) | |
| X | g.19353172A>G | CA412393496 | PDHA1 | c.530A>G (p.Gln177Arg) c.509A>G (p.Gln170Arg) c.593A>G (p.Gln198Arg) c.623A>G (p.Gln208Arg) c.418+1765A>G (n.418+1765A>G) c.419-1319A>G (n.419-1319A>G) n.344A>G c.644A>G (p.Gln215Arg) | gnomAD v4 |
| X | g.19353172A>T | CA412393498 | PDHA1 | c.530A>T (p.Gln177Leu) c.509A>T (p.Gln170Leu) c.593A>T (p.Gln198Leu) c.623A>T (p.Gln208Leu) c.418+1765A>T (n.418+1765A>T) c.419-1319A>T (n.419-1319A>T) n.344A>T c.644A>T (p.Gln215Leu) | |
| X | g.19353173G>A | CA515485911 | PDHA1 | c.531G>A (p.Gln177=) c.510G>A (p.Gln170=) c.594G>A (p.Gln198=) c.624G>A (p.Gln208=) c.418+1766G>A (n.418+1766G>A) c.419-1318G>A (n.419-1318G>A) n.345G>A c.645G>A (p.Gln215=) | |
| X | g.19353173G>C | CA412393502 | PDHA1 | c.531G>C (p.Gln177His) c.510G>C (p.Gln170His) c.594G>C (p.Gln198His) c.624G>C (p.Gln208His) c.418+1766G>C (n.418+1766G>C) c.419-1318G>C (n.419-1318G>C) n.345G>C c.645G>C (p.Gln215His) | |
| X | g.19353173G>T | CA412393504 | PDHA1 | c.531G>T (p.Gln177His) c.510G>T (p.Gln170His) c.594G>T (p.Gln198His) c.624G>T (p.Gln208His) c.418+1766G>T (n.418+1766G>T) c.419-1318G>T (n.419-1318G>T) n.345G>T c.645G>T (p.Gln215His) | |
| X | g.19353174G>A | CA412393508 | PDHA1 | c.531+1G>A (n.531+1G>A) c.511G>A (p.Val171Ile) c.594+1G>A (n.594+1G>A) c.624+1G>A (n.624+1G>A) c.418+1767G>A (n.418+1767G>A) c.419-1317G>A (n.419-1317G>A) c.510+1G>A (n.510+1G>A) n.345+1G>A c.645+1G>A (n.645+1G>A) | gnomAD v4 |
| X | g.19353174G>C | CA412393511 | PDHA1 | c.531+1G>C (n.531+1G>C) c.511G>C (p.Val171Leu) c.594+1G>C (n.594+1G>C) c.624+1G>C (n.624+1G>C) c.418+1767G>C (n.418+1767G>C) c.419-1317G>C (n.419-1317G>C) c.510+1G>C (n.510+1G>C) n.345+1G>C c.645+1G>C (n.645+1G>C) | |
| X | g.19353174G>T | CA412393515 | PDHA1 | c.531+1G>T (n.531+1G>T) c.511G>T (p.Val171Leu) c.594+1G>T (n.594+1G>T) c.624+1G>T (n.624+1G>T) c.418+1767G>T (n.418+1767G>T) c.419-1317G>T (n.419-1317G>T) c.510+1G>T (n.510+1G>T) n.345+1G>T c.645+1G>T (n.645+1G>T) | COSMIC COSMIC COSMIC COSMIC |
| X | g.19353175T>A | CA412393518 | PDHA1 | c.531+2T>A (n.531+2T>A) c.512T>A (p.Val171Glu) c.594+2T>A (n.594+2T>A) c.624+2T>A (n.624+2T>A) c.418+1768T>A (n.418+1768T>A) c.419-1316T>A (n.419-1316T>A) c.510+2T>A (n.510+2T>A) n.345+2T>A c.645+2T>A (n.645+2T>A) | |
| X | g.19353175T>C | CA412393521 | PDHA1 | c.531+2T>C (n.531+2T>C) c.512T>C (p.Val171Ala) c.594+2T>C (n.594+2T>C) c.624+2T>C (n.624+2T>C) c.418+1768T>C (n.418+1768T>C) c.419-1316T>C (n.419-1316T>C) c.510+2T>C (n.510+2T>C) n.345+2T>C c.645+2T>C (n.645+2T>C) | |
| X | g.19353175T>G | CA412393524 | PDHA1 | c.531+2T>G (n.531+2T>G) c.512T>G (p.Val171Gly) c.594+2T>G (n.594+2T>G) c.624+2T>G (n.624+2T>G) c.418+1768T>G (n.418+1768T>G) c.419-1316T>G (n.419-1316T>G) c.510+2T>G (n.510+2T>G) n.345+2T>G c.645+2T>G (n.645+2T>G) | |
| X | g.19353175_19353176insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA | CA2738438069 | PDHA1 | c.531+2_531+3insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA (n.531+2_531+3insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA) c.512_513insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA (p.Val172ProfsTer?) c.594+2_594+3insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA (n.594+2_594+3insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA) c.624+2_624+3insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA (n.624+2_624+3insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA) c.418+1768_418+1769insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA (n.418+1768_418+1769insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA) c.419-1316_419-1315insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA (n.419-1316_419-1315insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA) c.510+2_510+3insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA (n.510+2_510+3insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA) n.345+2_345+3insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA c.645+2_645+3insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA (n.645+2_645+3insGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGA) | dbSNP |
| X | g.19353177G>A | CA412393529 | PDHA1 | c.531+4G>A (n.531+4G>A) c.514G>A (p.Val172Ile) c.594+4G>A (n.594+4G>A) c.624+4G>A (n.624+4G>A) c.418+1770G>A (n.418+1770G>A) c.419-1314G>A (n.419-1314G>A) c.510+4G>A (n.510+4G>A) n.345+4G>A c.645+4G>A (n.645+4G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19353177G>C | CA412393533 | PDHA1 | c.531+4G>C (n.531+4G>C) c.514G>C (p.Val172Leu) c.594+4G>C (n.594+4G>C) c.624+4G>C (n.624+4G>C) c.418+1770G>C (n.418+1770G>C) c.419-1314G>C (n.419-1314G>C) c.510+4G>C (n.510+4G>C) n.345+4G>C c.645+4G>C (n.645+4G>C) | |
| X | g.19353177G= | CA2418222803 | PDHA1 | c.531+4G= (n.531+4G=) c.514G= (p.Val172=) c.594+4G= (n.594+4G=) c.624+4G= (n.624+4G=) c.418+1770G= (n.418+1770G=) c.419-1314G= (n.419-1314G=) c.510+4G= (n.510+4G=) n.345+4G= c.645+4G= (n.645+4G=) | |
| X | g.19353177G>T | CA412393535 | PDHA1 | c.531+4G>T (n.531+4G>T) c.514G>T (p.Val172Phe) c.594+4G>T (n.594+4G>T) c.624+4G>T (n.624+4G>T) c.418+1770G>T (n.418+1770G>T) c.419-1314G>T (n.419-1314G>T) c.510+4G>T (n.510+4G>T) n.345+4G>T c.645+4G>T (n.645+4G>T) | gnomAD v4 |
| X | g.19353178T>A | CA412393543 | PDHA1 | c.531+5T>A (n.531+5T>A) c.515T>A (p.Val172Asp) c.594+5T>A (n.594+5T>A) c.624+5T>A (n.624+5T>A) c.418+1771T>A (n.418+1771T>A) c.419-1313T>A (n.419-1313T>A) c.510+5T>A (n.510+5T>A) n.345+5T>A c.645+5T>A (n.645+5T>A) | gnomAD v4 |
| X | g.19353178T>C | CA412393545 | PDHA1 | c.531+5T>C (n.531+5T>C) c.515T>C (p.Val172Ala) c.594+5T>C (n.594+5T>C) c.624+5T>C (n.624+5T>C) c.418+1771T>C (n.418+1771T>C) c.419-1313T>C (n.419-1313T>C) c.510+5T>C (n.510+5T>C) n.345+5T>C c.645+5T>C (n.645+5T>C) | |
| X | g.19353178T>G | CA412393540 | PDHA1 | c.531+5T>G (n.531+5T>G) c.515T>G (p.Val172Gly) c.594+5T>G (n.594+5T>G) c.624+5T>G (n.624+5T>G) c.418+1771T>G (n.418+1771T>G) c.419-1313T>G (n.419-1313T>G) c.510+5T>G (n.510+5T>G) n.345+5T>G c.645+5T>G (n.645+5T>G) | |
| X | g.19353179C>A | CA2693250106 | PDHA1 | c.531+6C>A (n.531+6C>A) c.516C>A (p.Val172=) c.594+6C>A (n.594+6C>A) c.624+6C>A (n.624+6C>A) c.418+1772C>A (n.418+1772C>A) c.419-1312C>A (n.419-1312C>A) c.510+6C>A (n.510+6C>A) n.345+6C>A c.645+6C>A (n.645+6C>A) | gnomAD v4 |
| X | g.19353180A= | CA2418222804 | PDHA1 | c.531+7A= (n.531+7A=) c.517A= (p.Lys173=) c.594+7A= (n.594+7A=) c.624+7A= (n.624+7A=) c.418+1773A= (n.418+1773A=) c.419-1311A= (n.419-1311A=) c.510+7A= (n.510+7A=) n.345+7A= c.645+7A= (n.645+7A=) | |
| X | g.19353180A>C | CA412393549 | PDHA1 | c.531+7A>C (n.531+7A>C) c.517A>C (p.Lys173Gln) c.594+7A>C (n.594+7A>C) c.624+7A>C (n.624+7A>C) c.418+1773A>C (n.418+1773A>C) c.419-1311A>C (n.419-1311A>C) c.510+7A>C (n.510+7A>C) n.345+7A>C c.645+7A>C (n.645+7A>C) | dbSNP |
| X | g.19353180A>G | CA412393552 | PDHA1 | c.531+7A>G (n.531+7A>G) c.517A>G (p.Lys173Glu) c.594+7A>G (n.594+7A>G) c.624+7A>G (n.624+7A>G) c.418+1773A>G (n.418+1773A>G) c.419-1311A>G (n.419-1311A>G) c.510+7A>G (n.510+7A>G) n.345+7A>G c.645+7A>G (n.645+7A>G) | |
| X | g.19353180A>T | CA412393555 | PDHA1 | c.531+7A>T (n.531+7A>T) c.517A>T (p.Lys173Ter) c.594+7A>T (n.594+7A>T) c.624+7A>T (n.624+7A>T) c.418+1773A>T (n.418+1773A>T) c.419-1311A>T (n.419-1311A>T) c.510+7A>T (n.510+7A>T) n.345+7A>T c.645+7A>T (n.645+7A>T) | |
| X | g.19353181A>C | CA412393559 | PDHA1 | c.531+8A>C (n.531+8A>C) c.518A>C (p.Lys173Thr) c.594+8A>C (n.594+8A>C) c.624+8A>C (n.624+8A>C) c.418+1774A>C (n.418+1774A>C) c.419-1310A>C (n.419-1310A>C) c.510+8A>C (n.510+8A>C) n.345+8A>C c.645+8A>C (n.645+8A>C) | |
| X | g.19353181A>G | CA412393561 | PDHA1 | c.531+8A>G (n.531+8A>G) c.518A>G (p.Lys173Arg) c.594+8A>G (n.594+8A>G) c.624+8A>G (n.624+8A>G) c.418+1774A>G (n.418+1774A>G) c.419-1310A>G (n.419-1310A>G) c.510+8A>G (n.510+8A>G) n.345+8A>G c.645+8A>G (n.645+8A>G) | gnomAD v4 |
| X | g.19353181A>T | CA412393563 | PDHA1 | c.531+8A>T (n.531+8A>T) c.518A>T (p.Lys173Met) c.594+8A>T (n.594+8A>T) c.624+8A>T (n.624+8A>T) c.418+1774A>T (n.418+1774A>T) c.419-1310A>T (n.419-1310A>T) c.510+8A>T (n.510+8A>T) n.345+8A>T c.645+8A>T (n.645+8A>T) | |
| X | g.19353181_19353182delinsAG | CA2418222805 | PDHA1 | c.531+8_531+9delinsAG (n.531+8_531+9delinsAG) c.518_519delinsAG (p.Lys173=) c.594+8_594+9delinsAG (n.594+8_594+9delinsAG) c.624+8_624+9delinsAG (n.624+8_624+9delinsAG) c.418+1774_418+1775delinsAG (n.418+1774_418+1775delinsAG) c.419-1310_419-1309delinsAG (n.419-1310_419-1309delinsAG) c.510+8_510+9delinsAG (n.510+8_510+9delinsAG) n.345+8_345+9delinsAG c.645+8_645+9delinsAG (n.645+8_645+9delinsAG) | |
| X | g.19353182G>C | CA412393570 | PDHA1 | c.531+9G>C (n.531+9G>C) c.519G>C (p.Lys173Asn) c.594+9G>C (n.594+9G>C) c.624+9G>C (n.624+9G>C) c.418+1775G>C (n.418+1775G>C) c.419-1309G>C (n.419-1309G>C) c.510+9G>C (n.510+9G>C) n.345+9G>C c.645+9G>C (n.645+9G>C) | |
| X | g.19353182G>T | CA412393567 | PDHA1 | c.531+9G>T (n.531+9G>T) c.519G>T (p.Lys173Asn) c.594+9G>T (n.594+9G>T) c.624+9G>T (n.624+9G>T) c.418+1775G>T (n.418+1775G>T) c.419-1309G>T (n.419-1309G>T) c.510+9G>T (n.510+9G>T) n.345+9G>T c.645+9G>T (n.645+9G>T) | gnomAD v4 |
| X | g.19353183del | CA640521554 | PDHA1 | c.531+10del (n.531+10del) c.520del (p.Asp174ThrfsTer?) c.594+10del (n.594+10del) c.624+10del (n.624+10del) c.418+1776del (n.418+1776del) c.419-1308del (n.419-1308del) c.510+10del (n.510+10del) n.345+10del c.645+10del (n.645+10del) | dbSNP gnomAD v2 |
| X | g.19353183G>A | CA412393574 | PDHA1 | c.531+10G>A (n.531+10G>A) c.520G>A (p.Asp174Asn) c.594+10G>A (n.594+10G>A) c.624+10G>A (n.624+10G>A) c.418+1776G>A (n.418+1776G>A) c.419-1308G>A (n.419-1308G>A) c.510+10G>A (n.510+10G>A) n.345+10G>A c.645+10G>A (n.645+10G>A) | gnomAD v4 |
| X | g.19353183G>C | CA412393578 | PDHA1 | c.531+10G>C (n.531+10G>C) c.520G>C (p.Asp174His) c.594+10G>C (n.594+10G>C) c.624+10G>C (n.624+10G>C) c.418+1776G>C (n.418+1776G>C) c.419-1308G>C (n.419-1308G>C) c.510+10G>C (n.510+10G>C) n.345+10G>C c.645+10G>C (n.645+10G>C) | |
| X | g.19353183G>T | CA412393579 | PDHA1 | c.531+10G>T (n.531+10G>T) c.520G>T (p.Asp174Tyr) c.594+10G>T (n.594+10G>T) c.624+10G>T (n.624+10G>T) c.418+1776G>T (n.418+1776G>T) c.419-1308G>T (n.419-1308G>T) c.510+10G>T (n.510+10G>T) n.345+10G>T c.645+10G>T (n.645+10G>T) | |
| X | g.19353184A>C | CA412393583 | PDHA1 | c.531+11A>C (n.531+11A>C) c.521A>C (p.Asp174Ala) c.594+11A>C (n.594+11A>C) c.624+11A>C (n.624+11A>C) c.418+1777A>C (n.418+1777A>C) c.419-1307A>C (n.419-1307A>C) c.510+11A>C (n.510+11A>C) n.345+11A>C c.645+11A>C (n.645+11A>C) | |
| X | g.19353184A>G | CA412393585 | PDHA1 | c.531+11A>G (n.531+11A>G) c.521A>G (p.Asp174Gly) c.594+11A>G (n.594+11A>G) c.624+11A>G (n.624+11A>G) c.418+1777A>G (n.418+1777A>G) c.419-1307A>G (n.419-1307A>G) c.510+11A>G (n.510+11A>G) n.345+11A>G c.645+11A>G (n.645+11A>G) | |
| X | g.19353184A>T | CA412393587 | PDHA1 | c.531+11A>T (n.531+11A>T) c.521A>T (p.Asp174Val) c.594+11A>T (n.594+11A>T) c.624+11A>T (n.624+11A>T) c.418+1777A>T (n.418+1777A>T) c.419-1307A>T (n.419-1307A>T) c.510+11A>T (n.510+11A>T) n.345+11A>T c.645+11A>T (n.645+11A>T) | |
| X | g.19353185C>A | CA412393590 | PDHA1 | c.531+12C>A (n.531+12C>A) c.522C>A (p.Asp174Glu) c.594+12C>A (n.594+12C>A) c.624+12C>A (n.624+12C>A) c.418+1778C>A (n.418+1778C>A) c.419-1306C>A (n.419-1306C>A) c.510+12C>A (n.510+12C>A) n.345+12C>A c.645+12C>A (n.645+12C>A) | gnomAD v4 |
| X | g.19353185C= | CA2418222806 | PDHA1 | c.531+12C= (n.531+12C=) c.522C= (p.Asp174=) c.594+12C= (n.594+12C=) c.624+12C= (n.624+12C=) c.418+1778C= (n.418+1778C=) c.419-1306C= (n.419-1306C=) c.510+12C= (n.510+12C=) n.345+12C= c.645+12C= (n.645+12C=) | |
| X | g.19353185C>G | CA412393595 | PDHA1 | c.531+12C>G (n.531+12C>G) c.522C>G (p.Asp174Glu) c.594+12C>G (n.594+12C>G) c.624+12C>G (n.624+12C>G) c.418+1778C>G (n.418+1778C>G) c.419-1306C>G (n.419-1306C>G) c.510+12C>G (n.510+12C>G) n.345+12C>G c.645+12C>G (n.645+12C>G) | |
| X | g.19353185C>T | CA10363044 | PDHA1 | c.531+12C>T (n.531+12C>T) c.522C>T (p.Asp174=) c.594+12C>T (n.594+12C>T) c.624+12C>T (n.624+12C>T) c.418+1778C>T (n.418+1778C>T) c.419-1306C>T (n.419-1306C>T) c.510+12C>T (n.510+12C>T) n.345+12C>T c.645+12C>T (n.645+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |