UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.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=) |