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.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) | |
| 19 | g.41424601A>G | CA9461434 | BCKDHA | c.1331A>G (p.Asp444Gly) c.1340A>G (p.Asp447Gly) c.1433A>G (p.Asp478Gly) c.161A>G c.922+1904A>G (n.922+1904A>G) c.1328A>G (p.Asp443Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424601A>T | CA406015843 | BCKDHA | c.1331A>T (p.Asp444Val) c.1340A>T (p.Asp447Val) c.1433A>T (p.Asp478Val) c.161A>T c.922+1904A>T (n.922+1904A>T) c.1328A>T (p.Asp443Val) | gnomAD v4 |
| 19 | g.41424602T>A | CA406015849 | BCKDHA | c.1332T>A (p.Asp444Glu) c.1341T>A (p.Asp447Glu) c.1434T>A (p.Asp478Glu) c.162T>A c.922+1905T>A (n.922+1905T>A) c.1329T>A (p.Asp443Glu) | |
| 19 | g.41424602T>C | CA507560746 | BCKDHA | c.1332T>C (p.Asp444=) c.1341T>C (p.Asp447=) c.1434T>C (p.Asp478=) c.162T>C c.922+1905T>C (n.922+1905T>C) c.1329T>C (p.Asp443=) | ClinVar gnomAD v4 |
| 19 | g.41424602T>G | CA406015851 | BCKDHA | c.1332T>G (p.Asp444Glu) c.1341T>G (p.Asp447Glu) c.1434T>G (p.Asp478Glu) c.162T>G c.922+1905T>G (n.922+1905T>G) c.1329T>G (p.Asp443Glu) | gnomAD v4 |
| 19 | g.41424603A>C | CA406015856 | BCKDHA | c.1333A>C (p.Lys445Gln) c.1342A>C (p.Lys448Gln) c.1435A>C (p.Lys479Gln) c.163A>C c.922+1906A>C (n.922+1906A>C) c.1330A>C (p.Lys444Gln) | |
| 19 | g.41424603A>G | CA406015862 | BCKDHA | c.1333A>G (p.Lys445Glu) c.1342A>G (p.Lys448Glu) c.1435A>G (p.Lys479Glu) c.163A>G c.922+1906A>G (n.922+1906A>G) c.1330A>G (p.Lys444Glu) | |
| 19 | g.41424603A>T | CA406015859 | BCKDHA | c.1333A>T (p.Lys445Ter) c.1342A>T (p.Lys448Ter) c.1435A>T (p.Lys479Ter) c.163A>T c.922+1906A>T (n.922+1906A>T) c.1330A>T (p.Lys444Ter) | |
| 19 | g.41424604A>C | CA406015865 | BCKDHA | c.1334A>C (p.Lys445Thr) c.1343A>C (p.Lys448Thr) c.1436A>C (p.Lys479Thr) c.164A>C c.922+1907A>C (n.922+1907A>C) c.1331A>C (p.Lys444Thr) | |
| 19 | g.41424604A>G | CA406015867 | BCKDHA | c.1334A>G (p.Lys445Arg) c.1343A>G (p.Lys448Arg) c.1436A>G (p.Lys479Arg) c.164A>G c.922+1907A>G (n.922+1907A>G) c.1331A>G (p.Lys444Arg) | gnomAD v4 |
| 19 | g.41424604A>T | CA406015872 | BCKDHA | c.1334A>T (p.Lys445Met) c.1343A>T (p.Lys448Met) c.1436A>T (p.Lys479Met) c.164A>T c.922+1907A>T (n.922+1907A>T) c.1331A>T (p.Lys444Met) | |
| 19 | g.41424605G>A | CA507560747 | BCKDHA | c.1335G>A (p.Lys445=) c.1344G>A (p.Lys448=) c.1437G>A (p.Lys479=) c.165G>A c.922+1908G>A (n.922+1908G>A) c.1332G>A (p.Lys444=) | ClinVar |
| 19 | g.41424605G>C | CA406015876 | BCKDHA | c.1335G>C (p.Lys445Asn) c.1344G>C (p.Lys448Asn) c.1437G>C (p.Lys479Asn) c.165G>C c.922+1908G>C (n.922+1908G>C) c.1332G>C (p.Lys444Asn) | |
| 19 | g.41424605G>T | CA406015878 | BCKDHA | c.1335G>T (p.Lys445Asn) c.1344G>T (p.Lys448Asn) c.1437G>T (p.Lys479Asn) c.165G>T c.922+1908G>T (n.922+1908G>T) c.1332G>T (p.Lys444Asn) | |
| 19 | g.41424606T>A | CA406015882 | BCKDHA | c.1336T>A (p.Ter446Arg) c.1345T>A (p.Ter449Arg) c.1438T>A (p.Ter480Arg) c.166T>A c.922+1909T>A (n.922+1909T>A) c.1333T>A (p.Ter445Arg) | |
| 19 | g.41424606T>C | CA406015885 | BCKDHA | c.1336T>C (p.Ter446Arg) c.1345T>C (p.Ter449Arg) c.1438T>C (p.Ter480Arg) c.166T>C c.922+1909T>C (n.922+1909T>C) c.1333T>C (p.Ter445Arg) |