Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.19353079C>A | CA2693250104 | PDHA1 | c.440-3C>A (n.440-3C>A) c.419-3C>A (n.419-3C>A) c.503-3C>A (n.503-3C>A) c.533-3C>A (n.533-3C>A) c.418+1672C>A (n.418+1672C>A) c.419-1412C>A (n.419-1412C>A) n.251C>A c.554-3C>A (n.554-3C>A) | gnomAD v4 |
X | g.19353079C>T | CA2518498379 | PDHA1 | c.440-3C>T (n.440-3C>T) c.419-3C>T (n.419-3C>T) c.503-3C>T (n.503-3C>T) c.533-3C>T (n.533-3C>T) c.418+1672C>T (n.418+1672C>T) c.419-1412C>T (n.419-1412C>T) n.251C>T c.554-3C>T (n.554-3C>T) | |
X | g.19353080A>C | CA412392927 | PDHA1 | c.440-2A>C (n.440-2A>C) c.419-2A>C (n.419-2A>C) c.503-2A>C (n.503-2A>C) c.533-2A>C (n.533-2A>C) c.418+1673A>C (n.418+1673A>C) c.419-1411A>C (n.419-1411A>C) n.252A>C c.554-2A>C (n.554-2A>C) | |
X | g.19353080A>G | CA412392928 | PDHA1 | c.440-2A>G (n.440-2A>G) c.419-2A>G (n.419-2A>G) c.503-2A>G (n.503-2A>G) c.533-2A>G (n.533-2A>G) c.418+1673A>G (n.418+1673A>G) c.419-1411A>G (n.419-1411A>G) n.252A>G c.554-2A>G (n.554-2A>G) | |
X | g.19353080A>T | CA412392929 | PDHA1 | c.440-2A>T (n.440-2A>T) c.419-2A>T (n.419-2A>T) c.503-2A>T (n.503-2A>T) c.533-2A>T (n.533-2A>T) c.418+1673A>T (n.418+1673A>T) c.419-1411A>T (n.419-1411A>T) n.252A>T c.554-2A>T (n.554-2A>T) | |
X | g.19353081G>A | CA412392933 | PDHA1 | c.440-1G>A (n.440-1G>A) c.419-1G>A (n.419-1G>A) c.503-1G>A (n.503-1G>A) c.533-1G>A (n.533-1G>A) c.418+1674G>A (n.418+1674G>A) c.419-1410G>A (n.419-1410G>A) n.253G>A c.554-1G>A (n.554-1G>A) | |
X | g.19353081G>C | CA412392938 | PDHA1 | c.440-1G>C (n.440-1G>C) c.419-1G>C (n.419-1G>C) c.503-1G>C (n.503-1G>C) c.533-1G>C (n.533-1G>C) c.418+1674G>C (n.418+1674G>C) c.419-1410G>C (n.419-1410G>C) n.253G>C c.554-1G>C (n.554-1G>C) | |
X | g.19353081G>T | CA412392936 | PDHA1 | c.440-1G>T (n.440-1G>T) c.419-1G>T (n.419-1G>T) c.503-1G>T (n.503-1G>T) c.533-1G>T (n.533-1G>T) c.418+1674G>T (n.418+1674G>T) c.419-1410G>T (n.419-1410G>T) n.253G>T c.554-1G>T (n.554-1G>T) | |
X | g.19353082G>A | CA412392941 | PDHA1 | c.440G>A (p.Gly147Glu) c.419G>A (p.Gly140Glu) c.503G>A (p.Gly168Glu) c.533G>A (p.Gly178Glu) c.418+1675G>A (n.418+1675G>A) c.419-1409G>A (n.419-1409G>A) n.254G>A c.554G>A (p.Gly185Glu) | |
X | g.19353082G>C | CA412392946 | PDHA1 | c.440G>C (p.Gly147Ala) c.419G>C (p.Gly140Ala) c.503G>C (p.Gly168Ala) c.533G>C (p.Gly178Ala) c.418+1675G>C (n.418+1675G>C) c.419-1409G>C (n.419-1409G>C) n.254G>C c.554G>C (p.Gly185Ala) | |
X | g.19353082G>T | CA412392943 | PDHA1 | c.440G>T (p.Gly147Val) c.419G>T (p.Gly140Val) c.503G>T (p.Gly168Val) c.533G>T (p.Gly178Val) c.418+1675G>T (n.418+1675G>T) c.419-1409G>T (n.419-1409G>T) n.254G>T c.554G>T (p.Gly185Val) | |
X | g.19353083A>C | CA515485848 | PDHA1 | c.441A>C (p.Gly147=) c.420A>C (p.Gly140=) c.504A>C (p.Gly168=) c.534A>C (p.Gly178=) c.418+1676A>C (n.418+1676A>C) c.419-1408A>C (n.419-1408A>C) n.255A>C c.555A>C (p.Gly185=) | |
X | g.19353083A>G | CA515485850 | PDHA1 | c.441A>G (p.Gly147=) c.420A>G (p.Gly140=) c.504A>G (p.Gly168=) c.534A>G (p.Gly178=) c.418+1676A>G (n.418+1676A>G) c.419-1408A>G (n.419-1408A>G) n.255A>G c.555A>G (p.Gly185=) | |
X | g.19353083A>T | CA515485849 | PDHA1 | c.441A>T (p.Gly147=) c.420A>T (p.Gly140=) c.504A>T (p.Gly168=) c.534A>T (p.Gly178=) c.418+1676A>T (n.418+1676A>T) c.419-1408A>T (n.419-1408A>T) n.255A>T c.555A>T (p.Gly185=) | |
X | g.19353084C>A | CA515485851 | PDHA1 | c.442C>A (p.Arg148=) c.421C>A (p.Arg141=) c.505C>A (p.Arg169=) c.535C>A (p.Arg179=) c.418+1677C>A (n.418+1677C>A) c.419-1407C>A (n.419-1407C>A) n.256C>A c.556C>A (p.Arg186=) | |
X | g.19353084C>G | CA412392948 | PDHA1 | c.442C>G (p.Arg148Gly) c.421C>G (p.Arg141Gly) c.505C>G (p.Arg169Gly) c.535C>G (p.Arg179Gly) c.418+1677C>G (n.418+1677C>G) c.419-1407C>G (n.419-1407C>G) n.256C>G c.556C>G (p.Arg186Gly) | |
X | g.19353084C>T | CA412392950 | PDHA1 | c.442C>T (p.Arg148Ter) c.421C>T (p.Arg141Ter) c.505C>T (p.Arg169Ter) c.535C>T (p.Arg179Ter) c.418+1677C>T (n.418+1677C>T) c.419-1407C>T (n.419-1407C>T) n.256C>T c.556C>T (p.Arg186Ter) | |
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) |