Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.19353092_19353094delCA2695231639PDHA1c.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)
Xg.19353091G>ACA412392975PDHA1c.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)
Xg.19353091G>CCA412392978PDHA1c.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)
Xg.19353091G>TCA412392981PDHA1c.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)
Xg.19353092A>CCA515485859PDHA1c.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=)
Xg.19353092A>GCA515485860PDHA1c.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=)
Xg.19353092A>TCA515485861PDHA1c.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=)
Xg.19353093G>ACA412392984PDHA1c.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)
Xg.19353093G>CCA412392987PDHA1c.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)
Xg.19353093G>TCA412392991PDHA1c.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)
Xg.19353094G>ACA412392994PDHA1c.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)
Xg.19353094G>CCA412392997PDHA1c.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)
Xg.19353094G>TCA412393000PDHA1c.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)
Xg.19353096_19353098delCA2695231640PDHA1c.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)
Xg.19353095T>ACA515485866PDHA1c.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=)
Xg.19353095T>CCA515485864PDHA1c.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=)
Xg.19353095T>GCA515485865PDHA1c.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=)
Xg.19353096T>ACA412393007PDHA1c.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)
Xg.19353096T>CCA412393009PDHA1c.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)
Xg.19353096T>GCA412393004PDHA1c.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)
Xg.19353097G>ACA412393012PDHA1c.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
Xg.19353097G>CCA412393015PDHA1c.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)
Xg.19353097G=CA2418222784PDHA1c.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=)
Xg.19353097G>TCA412393018PDHA1c.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
Xg.19353098T>ACA412393022PDHA1c.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)
Xg.19353098T>CCA515485867PDHA1c.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
Xg.19353098T>GCA412393024PDHA1c.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)
Xg.19353098T=CA2418222785PDHA1c.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=)
Xg.19353099G>ACA412393036PDHA1c.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)
Xg.19353099G>CCA412393031PDHA1c.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)
Xg.19353099G>TCA412393028PDHA1c.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
Xg.19353100C>ACA412393040PDHA1c.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)
Xg.19353100C>GCA412393043PDHA1c.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)
Xg.19353100C>TCA412393045PDHA1c.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)
Xg.19353101T>ACA515485868PDHA1c.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=)
Xg.19353101T>CCA515485869PDHA1c.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
Xg.19353101T>GCA515485870PDHA1c.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=)
Xg.19353101T=CA2418222786PDHA1c.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=)
Xg.19353102A>CCA412393050PDHA1c.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)
Xg.19353102A>GCA412393052PDHA1c.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)
Xg.19353102A>TCA412393055PDHA1c.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)
Xg.19353104delCA2579566248PDHA1c.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?)
Xg.19353103A>CCA412393060PDHA1c.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)
Xg.19353103A>GCA412393069PDHA1c.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)
Xg.19353103A>TCA412393062PDHA1c.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)
Xg.19353104A>CCA412393071PDHA1c.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)
Xg.19353104A>GCA515485871PDHA1c.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=)
Xg.19353104A>TCA412393073PDHA1c.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)
Xg.19353105G>ACA412393077PDHA1c.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)
Xg.19353105G>CCA412393080PDHA1c.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)

Number of alleles fetched