| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41424578_41424585delinsGCACTACC | CA2336460079 | BCKDHA | c.1308_1315delinsGCACTACC (p.Glu436=) c.1317_1324delinsGCACTACC (p.Glu439=) c.1410_1417delinsGCACTACC (p.Glu470=) c.138_145delinsGCACTACC c.922+1881_922+1888delinsGCACTACC (n.922+1881_922+1888delinsGCACTACC) c.1305_1312delinsGCACTACC (p.Glu435=) | |
| 19 | g.41424583_41424589del | CA1139666462 | BCKDHA | c.1313_1319del (p.Tyr438TrpfsTer?) c.1322_1328del (p.Tyr441TrpfsTer?) c.1415_1421del (p.Tyr472TrpfsTer?) c.143_149del c.922+1886_922+1892del (n.922+1886_922+1892del) c.1310_1316del (p.Tyr437TrpfsTer?) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41424582T>A | CA115507 | BCKDHA | c.1312T>A (p.Tyr438Asn) c.1321T>A (p.Tyr441Asn) c.1414T>A (p.Tyr472Asn) c.142T>A c.922+1885T>A (n.922+1885T>A) c.1309T>A (p.Tyr437Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424582T>C | CA406015686 | BCKDHA | c.1312T>C (p.Tyr438His) c.1321T>C (p.Tyr441His) c.1414T>C (p.Tyr472His) c.142T>C c.922+1885T>C (n.922+1885T>C) c.1309T>C (p.Tyr437His) | ClinVar dbSNP |
| 19 | g.41424582T>G | CA406015689 | BCKDHA | c.1312T>G (p.Tyr438Asp) c.1321T>G (p.Tyr441Asp) c.1414T>G (p.Tyr472Asp) c.142T>G c.922+1885T>G (n.922+1885T>G) c.1309T>G (p.Tyr437Asp) | |
| 19 | g.41424582T= | CA2336460083 | BCKDHA | c.1312T= (p.Tyr438=) c.1321T= (p.Tyr441=) c.1414T= (p.Tyr472=) c.142T= c.922+1885T= (n.922+1885T=) c.1309T= (p.Tyr437=) | |
| 19 | g.41424583A>C | CA406015692 | BCKDHA | c.1313A>C (p.Tyr438Ser) c.1322A>C (p.Tyr441Ser) c.1415A>C (p.Tyr472Ser) c.143A>C c.922+1886A>C (n.922+1886A>C) c.1310A>C (p.Tyr437Ser) | |
| 19 | g.41424583A>G | CA406015694 | BCKDHA | c.1313A>G (p.Tyr438Cys) c.1322A>G (p.Tyr441Cys) c.1415A>G (p.Tyr472Cys) c.143A>G c.922+1886A>G (n.922+1886A>G) c.1310A>G (p.Tyr437Cys) | gnomAD v4 |
| 19 | g.41424583A>T | CA406015697 | BCKDHA | c.1313A>T (p.Tyr438Phe) c.1322A>T (p.Tyr441Phe) c.1415A>T (p.Tyr472Phe) c.143A>T c.922+1886A>T (n.922+1886A>T) c.1310A>T (p.Tyr437Phe) | |
| 19 | g.41424584C>A | CA221187 | BCKDHA | c.1314C>A (p.Tyr438Ter) c.1323C>A (p.Tyr441Ter) c.1416C>A (p.Tyr472Ter) c.144C>A c.922+1887C>A (n.922+1887C>A) c.1311C>A (p.Tyr437Ter) | ClinVar dbSNP |
| 19 | g.41424584C= | CA2336460084 | BCKDHA | c.1314C= (p.Tyr438=) c.1323C= (p.Tyr441=) c.1416C= (p.Tyr472=) c.144C= c.922+1887C= (n.922+1887C=) c.1311C= (p.Tyr437=) | |
| 19 | g.41424584C>G | CA406015701 | BCKDHA | c.1314C>G (p.Tyr438Ter) c.1323C>G (p.Tyr441Ter) c.1416C>G (p.Tyr472Ter) c.144C>G c.922+1887C>G (n.922+1887C>G) c.1311C>G (p.Tyr437Ter) | |
| 19 | g.41424584C>T | CA507560737 | BCKDHA | c.1314C>T (p.Tyr438=) c.1323C>T (p.Tyr441=) c.1416C>T (p.Tyr472=) c.144C>T c.922+1887C>T (n.922+1887C>T) c.1311C>T (p.Tyr437=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41424585C>A | CA406015711 | BCKDHA | c.1315C>A (p.Pro439Thr) c.1324C>A (p.Pro442Thr) c.1417C>A (p.Pro473Thr) c.145C>A c.922+1888C>A (n.922+1888C>A) c.1312C>A (p.Pro438Thr) | |
| 19 | g.41424585C= | CA2336460085 | BCKDHA | c.1315C= (p.Pro439=) c.1324C= (p.Pro442=) c.1417C= (p.Pro473=) c.145C= c.922+1888C= (n.922+1888C=) c.1312C= (p.Pro438=) | |
| 19 | g.41424585C>G | CA9461428 | BCKDHA | c.1315C>G (p.Pro439Ala) c.1324C>G (p.Pro442Ala) c.1417C>G (p.Pro473Ala) c.145C>G c.922+1888C>G (n.922+1888C>G) c.1312C>G (p.Pro438Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.41424585C>T | CA406015713 | BCKDHA | c.1315C>T (p.Pro439Ser) c.1324C>T (p.Pro442Ser) c.1417C>T (p.Pro473Ser) c.145C>T c.922+1888C>T (n.922+1888C>T) c.1312C>T (p.Pro438Ser) | |
| 19 | g.41424586C>A | CA406015719 | BCKDHA | c.1316C>A (p.Pro439Gln) c.1325C>A (p.Pro442Gln) c.1418C>A (p.Pro473Gln) c.146C>A c.922+1889C>A (n.922+1889C>A) c.1313C>A (p.Pro438Gln) | |
| 19 | g.41424586C= | CA2336460086 | BCKDHA | c.1316C= (p.Pro439=) c.1325C= (p.Pro442=) c.1418C= (p.Pro473=) c.146C= c.922+1889C= (n.922+1889C=) c.1313C= (p.Pro438=) | |
| 19 | g.41424586C>G | CA406015722 | BCKDHA | c.1316C>G (p.Pro439Arg) c.1325C>G (p.Pro442Arg) c.1418C>G (p.Pro473Arg) c.146C>G c.922+1889C>G (n.922+1889C>G) c.1313C>G (p.Pro438Arg) | |
| 19 | g.41424586C>T | CA308528208 | BCKDHA | c.1316C>T (p.Pro439Leu) c.1325C>T (p.Pro442Leu) c.1418C>T (p.Pro473Leu) c.146C>T c.922+1889C>T (n.922+1889C>T) c.1313C>T (p.Pro438Leu) | dbSNP |
| 19 | g.41424587A= | CA2336460087 | BCKDHA | c.1317A= (p.Pro439=) c.1326A= (p.Pro442=) c.1419A= (p.Pro473=) c.147A= c.922+1890A= (n.922+1890A=) c.1314A= (p.Pro438=) | |
| 19 | g.41424587A>C | CA507560738 | BCKDHA | c.1317A>C (p.Pro439=) c.1326A>C (p.Pro442=) c.1419A>C (p.Pro473=) c.147A>C c.922+1890A>C (n.922+1890A>C) c.1314A>C (p.Pro438=) | ClinVar dbSNP |
| 19 | g.41424587A>G | CA9461429 | BCKDHA | c.1317A>G (p.Pro439=) c.1326A>G (p.Pro442=) c.1419A>G (p.Pro473=) c.147A>G c.922+1890A>G (n.922+1890A>G) c.1314A>G (p.Pro438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424587A>T | CA507560739 | BCKDHA | c.1317A>T (p.Pro439=) c.1326A>T (p.Pro442=) c.1419A>T (p.Pro473=) c.147A>T c.922+1890A>T (n.922+1890A>T) c.1314A>T (p.Pro438=) | |
| 19 | g.41424588C>A | CA406015733 | BCKDHA | c.1318C>A (p.Leu440Met) c.1327C>A (p.Leu443Met) c.1420C>A (p.Leu474Met) c.148C>A c.922+1891C>A (n.922+1891C>A) c.1315C>A (p.Leu439Met) | |
| 19 | g.41424588C= | CA2336460088 | BCKDHA | c.1318C= (p.Leu440=) c.1327C= (p.Leu443=) c.1420C= (p.Leu474=) c.148C= c.922+1891C= (n.922+1891C=) c.1315C= (p.Leu439=) | |
| 19 | g.41424588C>G | CA406015736 | BCKDHA | c.1318C>G (p.Leu440Val) c.1327C>G (p.Leu443Val) c.1420C>G (p.Leu474Val) c.148C>G c.922+1891C>G (n.922+1891C>G) c.1315C>G (p.Leu439Val) | gnomAD v4 |
| 19 | g.41424588C>T | CA507560740 | BCKDHA | c.1318C>T (p.Leu440=) c.1327C>T (p.Leu443=) c.1420C>T (p.Leu474=) c.148C>T c.922+1891C>T (n.922+1891C>T) c.1315C>T (p.Leu439=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41424589T>A | CA406015740 | BCKDHA | c.1319T>A (p.Leu440Gln) c.1328T>A (p.Leu443Gln) c.1421T>A (p.Leu474Gln) c.149T>A c.922+1892T>A (n.922+1892T>A) c.1316T>A (p.Leu439Gln) | |
| 19 | g.41424589T>C | CA406015742 | BCKDHA | c.1319T>C (p.Leu440Pro) c.1328T>C (p.Leu443Pro) c.1421T>C (p.Leu474Pro) c.149T>C c.922+1892T>C (n.922+1892T>C) c.1316T>C (p.Leu439Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41424589T>G | CA406015744 | BCKDHA | c.1319T>G (p.Leu440Arg) c.1328T>G (p.Leu443Arg) c.1421T>G (p.Leu474Arg) c.149T>G c.922+1892T>G (n.922+1892T>G) c.1316T>G (p.Leu439Arg) | |
| 19 | g.41424589T= | CA2336460089 | BCKDHA | c.1319T= (p.Leu440=) c.1328T= (p.Leu443=) c.1421T= (p.Leu474=) c.149T= c.922+1892T= (n.922+1892T=) c.1316T= (p.Leu439=) | |
| 19 | g.41424590G>A | CA9461430 | BCKDHA | c.1320G>A (p.Leu440=) c.1329G>A (p.Leu443=) c.1422G>A (p.Leu474=) c.150G>A c.922+1893G>A (n.922+1893G>A) c.1317G>A (p.Leu439=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424590G>C | CA507560742 | BCKDHA | c.1320G>C (p.Leu440=) c.1329G>C (p.Leu443=) c.1422G>C (p.Leu474=) c.150G>C c.922+1893G>C (n.922+1893G>C) c.1317G>C (p.Leu439=) | |
| 19 | g.41424590G= | CA2336460090 | BCKDHA | c.1320G= (p.Leu440=) c.1329G= (p.Leu443=) c.1422G= (p.Leu474=) c.150G= c.922+1893G= (n.922+1893G=) c.1317G= (p.Leu439=) | |
| 19 | g.41424590G>T | CA507560741 | BCKDHA | c.1320G>T (p.Leu440=) c.1329G>T (p.Leu443=) c.1422G>T (p.Leu474=) c.150G>T c.922+1893G>T (n.922+1893G>T) c.1317G>T (p.Leu439=) | |
| 19 | g.41424591G>A | CA406015748 | BCKDHA | c.1321G>A (p.Asp441Asn) c.1330G>A (p.Asp444Asn) c.1423G>A (p.Asp475Asn) c.151G>A c.922+1894G>A (n.922+1894G>A) c.1318G>A (p.Asp440Asn) | gnomAD v4 |
| 19 | g.41424591G>C | CA406015751 | BCKDHA | c.1321G>C (p.Asp441His) c.1330G>C (p.Asp444His) c.1423G>C (p.Asp475His) c.151G>C c.922+1894G>C (n.922+1894G>C) c.1318G>C (p.Asp440His) | |
| 19 | g.41424591G>T | CA406015755 | BCKDHA | c.1321G>T (p.Asp441Tyr) c.1330G>T (p.Asp444Tyr) c.1423G>T (p.Asp475Tyr) c.151G>T c.922+1894G>T (n.922+1894G>T) c.1318G>T (p.Asp440Tyr) | |
| 19 | g.41424592A>C | CA406015759 | BCKDHA | c.1322A>C (p.Asp441Ala) c.1331A>C (p.Asp444Ala) c.1424A>C (p.Asp475Ala) c.152A>C c.922+1895A>C (n.922+1895A>C) c.1319A>C (p.Asp440Ala) | |
| 19 | g.41424592A>G | CA406015763 | BCKDHA | c.1322A>G (p.Asp441Gly) c.1331A>G (p.Asp444Gly) c.1424A>G (p.Asp475Gly) c.152A>G c.922+1895A>G (n.922+1895A>G) c.1319A>G (p.Asp440Gly) | |
| 19 | g.41424592A>T | CA406015762 | BCKDHA | c.1322A>T (p.Asp441Val) c.1331A>T (p.Asp444Val) c.1424A>T (p.Asp475Val) c.152A>T c.922+1895A>T (n.922+1895A>T) c.1319A>T (p.Asp440Val) | |
| 19 | g.41424593T>A | CA406015769 | BCKDHA | c.1323T>A (p.Asp441Glu) c.1332T>A (p.Asp444Glu) c.1425T>A (p.Asp475Glu) c.153T>A c.922+1896T>A (n.922+1896T>A) c.1320T>A (p.Asp440Glu) | |
| 19 | g.41424593T>C | CA507560743 | BCKDHA | c.1323T>C (p.Asp441=) c.1332T>C (p.Asp444=) c.1425T>C (p.Asp475=) c.153T>C c.922+1896T>C (n.922+1896T>C) c.1320T>C (p.Asp440=) | |
| 19 | g.41424593T>G | CA406015771 | BCKDHA | c.1323T>G (p.Asp441Glu) c.1332T>G (p.Asp444Glu) c.1425T>G (p.Asp475Glu) c.153T>G c.922+1896T>G (n.922+1896T>G) c.1320T>G (p.Asp440Glu) | |
| 19 | g.41424594C>A | CA406015773 | BCKDHA | c.1324C>A (p.His442Asn) c.1333C>A (p.His445Asn) c.1426C>A (p.His476Asn) c.154C>A c.922+1897C>A (n.922+1897C>A) c.1321C>A (p.His441Asn) | gnomAD v4 |
| 19 | g.41424594C= | CA2336460091 | BCKDHA | c.1324C= (p.His442=) c.1333C= (p.His445=) c.1426C= (p.His476=) c.154C= c.922+1897C= (n.922+1897C=) c.1321C= (p.His441=) | |
| 19 | g.41424594C>G | CA9461431 | BCKDHA | c.1324C>G (p.His442Asp) c.1333C>G (p.His445Asp) c.1426C>G (p.His476Asp) c.154C>G c.922+1897C>G (n.922+1897C>G) c.1321C>G (p.His441Asp) | dbSNP ExAC gnomAD v2 |
| 19 | g.41424594C>T | CA406015777 | BCKDHA | c.1324C>T (p.His442Tyr) c.1333C>T (p.His445Tyr) c.1426C>T (p.His476Tyr) c.154C>T c.922+1897C>T (n.922+1897C>T) c.1321C>T (p.His441Tyr) | dbSNP gnomAD v4 |