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.41424484_41424489dup | CA658820662 | BCKDHA | c.1214_1219dup (p.Asn406_Leu407insProAsn) c.1223_1228dup (p.Asn409_Leu410insProAsn) c.1316_1321dup (p.Asn440_Leu441insProAsn) c.62-18_62-13dup c.922+1787_922+1792dup (n.922+1787_922+1792dup) c.1211_1216dup (p.Asn405_Leu406insProAsn) | |
| 19 | g.41424487A= | CA2336460040 | BCKDHA | c.1217A= (p.Asn406=) c.1226A= (p.Asn409=) c.1319A= (p.Asn440=) c.62-15A= c.922+1790A= (n.922+1790A=) c.1214A= (p.Asn405=) | |
| 19 | g.41424487A>C | CA406015350 | BCKDHA | c.1217A>C (p.Asn406Thr) c.1226A>C (p.Asn409Thr) c.1319A>C (p.Asn440Thr) c.62-15A>C c.922+1790A>C (n.922+1790A>C) c.1214A>C (p.Asn405Thr) | |
| 19 | g.41424487A>G | CA9461407 | BCKDHA | c.1217A>G (p.Asn406Ser) c.1226A>G (p.Asn409Ser) c.1319A>G (p.Asn440Ser) c.62-15A>G c.922+1790A>G (n.922+1790A>G) c.1214A>G (p.Asn405Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424487A>T | CA406015351 | BCKDHA | c.1217A>T (p.Asn406Ile) c.1226A>T (p.Asn409Ile) c.1319A>T (p.Asn440Ile) c.62-15A>T c.922+1790A>T (n.922+1790A>T) c.1214A>T (p.Asn405Ile) | |
| 19 | g.41424488C>A | CA406015352 | BCKDHA | c.1218C>A (p.Asn406Lys) c.1227C>A (p.Asn409Lys) c.1320C>A (p.Asn440Lys) c.62-14C>A c.922+1791C>A (n.922+1791C>A) c.1215C>A (p.Asn405Lys) | |
| 19 | g.41424488C>G | CA406015353 | BCKDHA | c.1218C>G (p.Asn406Lys) c.1227C>G (p.Asn409Lys) c.1320C>G (p.Asn440Lys) c.62-14C>G c.922+1791C>G (n.922+1791C>G) c.1215C>G (p.Asn405Lys) | |
| 19 | g.41424488C>T | CA507560673 | BCKDHA | c.1218C>T (p.Asn406=) c.1227C>T (p.Asn409=) c.1320C>T (p.Asn440=) c.62-14C>T c.922+1791C>T (n.922+1791C>T) c.1215C>T (p.Asn405=) | ClinVar |
| 19 | g.41424489C>A | CA406015354 | BCKDHA | c.1219C>A (p.Leu407Ile) c.1228C>A (p.Leu410Ile) c.1321C>A (p.Leu441Ile) c.62-13C>A c.922+1792C>A (n.922+1792C>A) c.1216C>A (p.Leu406Ile) | |
| 19 | g.41424489C>G | CA406015355 | BCKDHA | c.1219C>G (p.Leu407Val) c.1228C>G (p.Leu410Val) c.1321C>G (p.Leu441Val) c.62-13C>G c.922+1792C>G (n.922+1792C>G) c.1216C>G (p.Leu406Val) | |
| 19 | g.41424489C>T | CA507560674 | BCKDHA | c.1219C>T (p.Leu407=) c.1228C>T (p.Leu410=) c.1321C>T (p.Leu441=) c.62-13C>T c.922+1792C>T (n.922+1792C>T) c.1216C>T (p.Leu406=) | |
| 19 | g.41424490T>A | CA406015356 | BCKDHA | c.1220T>A (p.Leu407Gln) c.1229T>A (p.Leu410Gln) c.1322T>A (p.Leu441Gln) c.62-12T>A c.922+1793T>A (n.922+1793T>A) c.1217T>A (p.Leu406Gln) | |
| 19 | g.41424490T>C | CA406015357 | BCKDHA | c.1220T>C (p.Leu407Pro) c.1229T>C (p.Leu410Pro) c.1322T>C (p.Leu441Pro) c.62-12T>C c.922+1793T>C (n.922+1793T>C) c.1217T>C (p.Leu406Pro) | |
| 19 | g.41424490T>G | CA406015358 | BCKDHA | c.1220T>G (p.Leu407Arg) c.1229T>G (p.Leu410Arg) c.1322T>G (p.Leu441Arg) c.62-12T>G c.922+1793T>G (n.922+1793T>G) c.1217T>G (p.Leu406Arg) | |
| 19 | g.41424491A= | CA2336460041 | BCKDHA | c.1221A= (p.Leu407=) c.1230A= (p.Leu410=) c.1323A= (p.Leu441=) c.62-11A= c.922+1794A= (n.922+1794A=) c.1218A= (p.Leu406=) | |
| 19 | g.41424491A>C | CA507560675 | BCKDHA | c.1221A>C (p.Leu407=) c.1230A>C (p.Leu410=) c.1323A>C (p.Leu441=) c.62-11A>C c.922+1794A>C (n.922+1794A>C) c.1218A>C (p.Leu406=) | |
| 19 | g.41424491A>G | CA146869 | BCKDHA | c.1221A>G (p.Leu407=) c.1230A>G (p.Leu410=) c.1323A>G (p.Leu441=) c.62-11A>G c.922+1794A>G (n.922+1794A>G) c.1218A>G (p.Leu406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424491A>T | CA507560676 | BCKDHA | c.1221A>T (p.Leu407=) c.1230A>T (p.Leu410=) c.1323A>T (p.Leu441=) c.62-11A>T c.922+1794A>T (n.922+1794A>T) c.1218A>T (p.Leu406=) | gnomAD v4 |
| 19 | g.41424492C>A | CA406015359 | BCKDHA | c.1222C>A (p.Leu408Ile) c.1231C>A (p.Leu411Ile) c.1324C>A (p.Leu442Ile) c.62-10C>A c.922+1795C>A (n.922+1795C>A) c.1219C>A (p.Leu407Ile) | |
| 19 | g.41424492C= | CA2336460042 | BCKDHA | c.1222C= (p.Leu408=) c.1231C= (p.Leu411=) c.1324C= (p.Leu442=) c.62-10C= c.922+1795C= (n.922+1795C=) c.1219C= (p.Leu407=) | |
| 19 | g.41424492C>G | CA406015360 | BCKDHA | c.1222C>G (p.Leu408Val) c.1231C>G (p.Leu411Val) c.1324C>G (p.Leu442Val) c.62-10C>G c.922+1795C>G (n.922+1795C>G) c.1219C>G (p.Leu407Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41424492C>T | CA406015361 | BCKDHA | c.1222C>T (p.Leu408Phe) c.1231C>T (p.Leu411Phe) c.1324C>T (p.Leu442Phe) c.62-10C>T c.922+1795C>T (n.922+1795C>T) c.1219C>T (p.Leu407Phe) | gnomAD v4 |
| 19 | g.41424493T>A | CA406015363 | BCKDHA | c.1223T>A (p.Leu408His) c.1232T>A (p.Leu411His) c.1325T>A (p.Leu442His) c.62-9T>A c.922+1796T>A (n.922+1796T>A) c.1220T>A (p.Leu407His) | |
| 19 | g.41424493T>C | CA406015364 | BCKDHA | c.1223T>C (p.Leu408Pro) c.1232T>C (p.Leu411Pro) c.1325T>C (p.Leu442Pro) c.62-9T>C c.922+1796T>C (n.922+1796T>C) c.1220T>C (p.Leu407Pro) | |
| 19 | g.41424493T>G | CA406015362 | BCKDHA | c.1223T>G (p.Leu408Arg) c.1232T>G (p.Leu411Arg) c.1325T>G (p.Leu442Arg) c.62-9T>G c.922+1796T>G (n.922+1796T>G) c.1220T>G (p.Leu407Arg) | |
| 19 | g.41424494C>A | CA507560677 | BCKDHA | c.1224C>A (p.Leu408=) c.1233C>A (p.Leu411=) c.1326C>A (p.Leu442=) c.62-8C>A c.922+1797C>A (n.922+1797C>A) c.1221C>A (p.Leu407=) | |
| 19 | g.41424494C= | CA2336460043 | BCKDHA | c.1224C= (p.Leu408=) c.1233C= (p.Leu411=) c.1326C= (p.Leu442=) c.62-8C= c.922+1797C= (n.922+1797C=) c.1221C= (p.Leu407=) | |
| 19 | g.41424494C>G | CA507560678 | BCKDHA | c.1224C>G (p.Leu408=) c.1233C>G (p.Leu411=) c.1326C>G (p.Leu442=) c.62-8C>G c.922+1797C>G (n.922+1797C>G) c.1221C>G (p.Leu407=) | dbSNP |
| 19 | g.41424494C>T | CA9461408 | BCKDHA | c.1224C>T (p.Leu408=) c.1233C>T (p.Leu411=) c.1326C>T (p.Leu442=) c.62-8C>T c.922+1797C>T (n.922+1797C>T) c.1221C>T (p.Leu407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424495T>A | CA406015365 | BCKDHA | c.1225T>A (p.Phe409Ile) c.1234T>A (p.Phe412Ile) c.1327T>A (p.Phe443Ile) c.62-7T>A c.922+1798T>A (n.922+1798T>A) c.1222T>A (p.Phe408Ile) | |
| 19 | g.41424495T>C | CA406015366 | BCKDHA | c.1225T>C (p.Phe409Leu) c.1234T>C (p.Phe412Leu) c.1327T>C (p.Phe443Leu) c.62-7T>C c.922+1798T>C (n.922+1798T>C) c.1222T>C (p.Phe408Leu) | |
| 19 | g.41424495T>G | CA406015367 | BCKDHA | c.1225T>G (p.Phe409Val) c.1234T>G (p.Phe412Val) c.1327T>G (p.Phe443Val) c.62-7T>G c.922+1798T>G (n.922+1798T>G) c.1222T>G (p.Phe408Val) | |
| 19 | g.41424496T>A | CA406015368 | BCKDHA | c.1226T>A (p.Phe409Tyr) c.1235T>A (p.Phe412Tyr) c.1328T>A (p.Phe443Tyr) c.62-6T>A c.922+1799T>A (n.922+1799T>A) c.1223T>A (p.Phe408Tyr) | |
| 19 | g.41424496T>C | CA406015369 | BCKDHA | c.1226T>C (p.Phe409Ser) c.1235T>C (p.Phe412Ser) c.1328T>C (p.Phe443Ser) c.62-6T>C c.922+1799T>C (n.922+1799T>C) c.1223T>C (p.Phe408Ser) | |
| 19 | g.41424496T>G | CA115510 | BCKDHA | c.1226T>G (p.Phe409Cys) c.1235T>G (p.Phe412Cys) c.1328T>G (p.Phe443Cys) c.62-6T>G c.922+1799T>G (n.922+1799T>G) c.1223T>G (p.Phe408Cys) | ClinVar dbSNP |
| 19 | g.41424496T= | CA2336460044 | BCKDHA | c.1226T= (p.Phe409=) c.1235T= (p.Phe412=) c.1328T= (p.Phe443=) c.62-6T= c.922+1799T= (n.922+1799T=) c.1223T= (p.Phe408=) | |
| 19 | g.41424497C>A | CA406015370 | BCKDHA | c.1227C>A (p.Phe409Leu) c.1236C>A (p.Phe412Leu) c.1329C>A (p.Phe443Leu) c.62-5C>A c.922+1800C>A (n.922+1800C>A) c.1224C>A (p.Phe408Leu) | gnomAD v4 |
| 19 | g.41424497C= | CA2336460045 | BCKDHA | c.1227C= (p.Phe409=) c.1236C= (p.Phe412=) c.1329C= (p.Phe443=) c.62-5C= c.922+1800C= (n.922+1800C=) c.1224C= (p.Phe408=) | |
| 19 | g.41424497C>G | CA406015371 | BCKDHA | c.1227C>G (p.Phe409Leu) c.1236C>G (p.Phe412Leu) c.1329C>G (p.Phe443Leu) c.62-5C>G c.922+1800C>G (n.922+1800C>G) c.1224C>G (p.Phe408Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41424497C>T | CA507560679 | BCKDHA | c.1227C>T (p.Phe409=) c.1236C>T (p.Phe412=) c.1329C>T (p.Phe443=) c.62-5C>T c.922+1800C>T (n.922+1800C>T) c.1224C>T (p.Phe408=) | dbSNP |
| 19 | g.41424497_41424499del | CA2695228771 | BCKDHA | c.1227_1229del (p.Phe409_Ser410delinsLeu) c.1236_1238del (p.Phe412_Ser413delinsLeu) c.1329_1331del (p.Phe443_Ser444delinsLeu) c.62-5_62-3del c.922+1800_922+1802del (n.922+1800_922+1802del) c.1224_1226del (p.Phe408_Ser409delinsLeu) | |
| 19 | g.41424498T>A | CA406015372 | BCKDHA | c.1228T>A (p.Ser410Thr) c.1237T>A (p.Ser413Thr) c.1330T>A (p.Ser444Thr) c.62-4T>A c.922+1801T>A (n.922+1801T>A) c.1225T>A (p.Ser409Thr) | |
| 19 | g.41424498T>C | CA406015373 | BCKDHA | c.1228T>C (p.Ser410Pro) c.1237T>C (p.Ser413Pro) c.1330T>C (p.Ser444Pro) c.62-4T>C c.922+1801T>C (n.922+1801T>C) c.1225T>C (p.Ser409Pro) | |
| 19 | g.41424498T>G | CA406015375 | BCKDHA | c.1228T>G (p.Ser410Ala) c.1237T>G (p.Ser413Ala) c.1330T>G (p.Ser444Ala) c.62-4T>G c.922+1801T>G (n.922+1801T>G) c.1225T>G (p.Ser409Ala) | |
| 19 | g.41424499C>A | CA406015377 | BCKDHA | c.1229C>A (p.Ser410Ter) c.1238C>A (p.Ser413Ter) c.1331C>A (p.Ser444Ter) c.62-3C>A c.922+1802C>A (n.922+1802C>A) c.1226C>A (p.Ser409Ter) | |
| 19 | g.41424499C= | CA2336460046 | BCKDHA | c.1229C= (p.Ser410=) c.1238C= (p.Ser413=) c.1331C= (p.Ser444=) c.62-3C= c.922+1802C= (n.922+1802C=) c.1226C= (p.Ser409=) | |
| 19 | g.41424499C>G | CA406015378 | BCKDHA | c.1229C>G (p.Ser410Ter) c.1238C>G (p.Ser413Ter) c.1331C>G (p.Ser444Ter) c.62-3C>G c.922+1802C>G (n.922+1802C>G) c.1226C>G (p.Ser409Ter) | |
| 19 | g.41424499C>T | CA9461409 | BCKDHA | c.1229C>T (p.Ser410Leu) c.1238C>T (p.Ser413Leu) c.1331C>T (p.Ser444Leu) c.62-3C>T c.922+1802C>T (n.922+1802C>T) c.1226C>T (p.Ser409Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41424500A>C | CA507560680 | BCKDHA | c.1230A>C (p.Ser410=) c.1239A>C (p.Ser413=) c.1332A>C (p.Ser444=) c.62-2A>C c.922+1803A>C (n.922+1803A>C) c.1227A>C (p.Ser409=) | gnomAD v4 |
| 19 | g.41424500A>G | CA507560681 | BCKDHA | c.1230A>G (p.Ser410=) c.1239A>G (p.Ser413=) c.1332A>G (p.Ser444=) c.62-2A>G c.922+1803A>G (n.922+1803A>G) c.1227A>G (p.Ser409=) | gnomAD v4 |