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 |
|---|---|---|---|---|---|
| 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.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 |
| 19 | g.41424595A>C | CA406015789 | BCKDHA | c.1325A>C (p.His442Pro) c.1334A>C (p.His445Pro) c.1427A>C (p.His476Pro) c.155A>C c.922+1898A>C (n.922+1898A>C) c.1322A>C (p.His441Pro) | |
| 19 | g.41424595A>G | CA406015792 | BCKDHA | c.1325A>G (p.His442Arg) c.1334A>G (p.His445Arg) c.1427A>G (p.His476Arg) c.155A>G c.922+1898A>G (n.922+1898A>G) c.1322A>G (p.His441Arg) | |
| 19 | g.41424595A>T | CA406015795 | BCKDHA | c.1325A>T (p.His442Leu) c.1334A>T (p.His445Leu) c.1427A>T (p.His476Leu) c.155A>T c.922+1898A>T (n.922+1898A>T) c.1322A>T (p.His441Leu) | |
| 19 | g.41424596C>A | CA406015799 | BCKDHA | c.1326C>A (p.His442Gln) c.1335C>A (p.His445Gln) c.1428C>A (p.His476Gln) c.156C>A c.922+1899C>A (n.922+1899C>A) c.1323C>A (p.His441Gln) | |
| 19 | g.41424596C>G | CA406015802 | BCKDHA | c.1326C>G (p.His442Gln) c.1335C>G (p.His445Gln) c.1428C>G (p.His476Gln) c.156C>G c.922+1899C>G (n.922+1899C>G) c.1323C>G (p.His441Gln) | gnomAD v4 |
| 19 | g.41424596C>T | CA507560744 | BCKDHA | c.1326C>T (p.His442=) c.1335C>T (p.His445=) c.1428C>T (p.His476=) c.156C>T c.922+1899C>T (n.922+1899C>T) c.1323C>T (p.His441=) | |
| 19 | g.41424597T>A | CA406015807 | BCKDHA | c.1327T>A (p.Phe443Ile) c.1336T>A (p.Phe446Ile) c.1429T>A (p.Phe477Ile) c.157T>A c.922+1900T>A (n.922+1900T>A) c.1324T>A (p.Phe442Ile) | |
| 19 | g.41424597T>C | CA406015810 | BCKDHA | c.1327T>C (p.Phe443Leu) c.1336T>C (p.Phe446Leu) c.1429T>C (p.Phe477Leu) c.157T>C c.922+1900T>C (n.922+1900T>C) c.1324T>C (p.Phe442Leu) | dbSNP gnomAD v2 |
| 19 | g.41424597T>G | CA406015805 | BCKDHA | c.1327T>G (p.Phe443Val) c.1336T>G (p.Phe446Val) c.1429T>G (p.Phe477Val) c.157T>G c.922+1900T>G (n.922+1900T>G) c.1324T>G (p.Phe442Val) | gnomAD v4 |
| 19 | g.41424597T= | CA2336460092 | BCKDHA | c.1327T= (p.Phe443=) c.1336T= (p.Phe446=) c.1429T= (p.Phe477=) c.157T= c.922+1900T= (n.922+1900T=) c.1324T= (p.Phe442=) | |
| 19 | g.41424598T>A | CA406015813 | BCKDHA | c.1328T>A (p.Phe443Tyr) c.1337T>A (p.Phe446Tyr) c.1430T>A (p.Phe477Tyr) c.158T>A c.922+1901T>A (n.922+1901T>A) c.1325T>A (p.Phe442Tyr) | |
| 19 | g.41424598T>C | CA406015817 | BCKDHA | c.1328T>C (p.Phe443Ser) c.1337T>C (p.Phe446Ser) c.1430T>C (p.Phe477Ser) c.158T>C c.922+1901T>C (n.922+1901T>C) c.1325T>C (p.Phe442Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41424598T>G | CA406015821 | BCKDHA | c.1328T>G (p.Phe443Cys) c.1337T>G (p.Phe446Cys) c.1430T>G (p.Phe477Cys) c.158T>G c.922+1901T>G (n.922+1901T>G) c.1325T>G (p.Phe442Cys) | |
| 19 | g.41424598T= | CA2336460093 | BCKDHA | c.1328T= (p.Phe443=) c.1337T= (p.Phe446=) c.1430T= (p.Phe477=) c.158T= c.922+1901T= (n.922+1901T=) c.1325T= (p.Phe442=) | |
| 19 | g.41424599C>A | CA406015825 | BCKDHA | c.1329C>A (p.Phe443Leu) c.1338C>A (p.Phe446Leu) c.1431C>A (p.Phe477Leu) c.159C>A c.922+1902C>A (n.922+1902C>A) c.1326C>A (p.Phe442Leu) | |
| 19 | g.41424599C= | CA2336460094 | BCKDHA | c.1329C= (p.Phe443=) c.1338C= (p.Phe446=) c.1431C= (p.Phe477=) c.159C= c.922+1902C= (n.922+1902C=) c.1326C= (p.Phe442=) | |
| 19 | g.41424599C>G | CA406015827 | BCKDHA | c.1329C>G (p.Phe443Leu) c.1338C>G (p.Phe446Leu) c.1431C>G (p.Phe477Leu) c.159C>G c.922+1902C>G (n.922+1902C>G) c.1326C>G (p.Phe442Leu) | gnomAD v4 |
| 19 | g.41424599C>T | CA9461432 | BCKDHA | c.1329C>T (p.Phe443=) c.1338C>T (p.Phe446=) c.1431C>T (p.Phe477=) c.159C>T c.922+1902C>T (n.922+1902C>T) c.1326C>T (p.Phe442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424600G>A | CA9461433 | BCKDHA | c.1330G>A (p.Asp444Asn) c.1339G>A (p.Asp447Asn) c.1432G>A (p.Asp478Asn) c.160G>A c.922+1903G>A (n.922+1903G>A) c.1327G>A (p.Asp443Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424600G>C | CA406015833 | BCKDHA | c.1330G>C (p.Asp444His) c.1339G>C (p.Asp447His) c.1432G>C (p.Asp478His) c.160G>C c.922+1903G>C (n.922+1903G>C) c.1327G>C (p.Asp443His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41424600G= | CA2336460095 | BCKDHA | c.1330G= (p.Asp444=) c.1339G= (p.Asp447=) c.1432G= (p.Asp478=) c.160G= c.922+1903G= (n.922+1903G=) c.1327G= (p.Asp443=) | |
| 19 | g.41424600G>T | CA406015837 | BCKDHA | c.1330G>T (p.Asp444Tyr) c.1339G>T (p.Asp447Tyr) c.1432G>T (p.Asp478Tyr) c.160G>T c.922+1903G>T (n.922+1903G>T) c.1327G>T (p.Asp443Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424601A= | CA2336460096 | BCKDHA | c.1331A= (p.Asp444=) c.1340A= (p.Asp447=) c.1433A= (p.Asp478=) c.161A= c.922+1904A= (n.922+1904A=) c.1328A= (p.Asp443=) | |
| 19 | g.41424601A>C | CA406015840 | BCKDHA | c.1331A>C (p.Asp444Ala) c.1340A>C (p.Asp447Ala) c.1433A>C (p.Asp478Ala) c.161A>C c.922+1904A>C (n.922+1904A>C) c.1328A>C (p.Asp443Ala) |