Allele Registry

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.41424485del	CA2585308446	BCKDHA	c.1215del (p.Asn406ThrfsTer?) c.1224del (p.Asn409ThrfsTer?) c.1317del (p.Asn440ThrfsTer?) c.62-17del c.922+1788del (n.922+1788del) c.1212del (p.Asn405ThrfsTer?)	gnomAD v4
19	g.41424483C>A	CA406015340	BCKDHA	c.1213C>A (p.Pro405Thr) c.1222C>A (p.Pro408Thr) c.1315C>A (p.Pro439Thr) c.62-19C>A c.922+1786C>A (n.922+1786C>A) c.1210C>A (p.Pro404Thr)
19	g.41424483C>G	CA406015342	BCKDHA	c.1213C>G (p.Pro405Ala) c.1222C>G (p.Pro408Ala) c.1315C>G (p.Pro439Ala) c.62-19C>G c.922+1786C>G (n.922+1786C>G) c.1210C>G (p.Pro404Ala)
19	g.41424483C>T	CA406015343	BCKDHA	c.1213C>T (p.Pro405Ser) c.1222C>T (p.Pro408Ser) c.1315C>T (p.Pro439Ser) c.62-19C>T c.922+1786C>T (n.922+1786C>T) c.1210C>T (p.Pro404Ser)
19	g.41424484C>A	CA406015344	BCKDHA	c.1214C>A (p.Pro405His) c.1223C>A (p.Pro408His) c.1316C>A (p.Pro439His) c.62-18C>A c.922+1787C>A (n.922+1787C>A) c.1211C>A (p.Pro404His)
19	g.41424484C=	CA2336460039	BCKDHA	c.1214C= (p.Pro405=) c.1223C= (p.Pro408=) c.1316C= (p.Pro439=) c.62-18C= c.922+1787C= (n.922+1787C=) c.1211C= (p.Pro404=)
19	g.41424484C>G	CA406015345	BCKDHA	c.1214C>G (p.Pro405Arg) c.1223C>G (p.Pro408Arg) c.1316C>G (p.Pro439Arg) c.62-18C>G c.922+1787C>G (n.922+1787C>G) c.1211C>G (p.Pro404Arg)
19	g.41424484C>T	CA406015346	BCKDHA	c.1214C>T (p.Pro405Leu) c.1223C>T (p.Pro408Leu) c.1316C>T (p.Pro439Leu) c.62-18C>T c.922+1787C>T (n.922+1787C>T) c.1211C>T (p.Pro404Leu)	dbSNP
19	g.41424485C>A	CA507560672	BCKDHA	c.1215C>A (p.Pro405=) c.1224C>A (p.Pro408=) c.1317C>A (p.Pro439=) c.62-17C>A c.922+1788C>A (n.922+1788C>A) c.1212C>A (p.Pro404=)	ClinVar dbSNP
19	g.41424485C>G	CA507560670	BCKDHA	c.1215C>G (p.Pro405=) c.1224C>G (p.Pro408=) c.1317C>G (p.Pro439=) c.62-17C>G c.922+1788C>G (n.922+1788C>G) c.1212C>G (p.Pro404=)
19	g.41424485C>T	CA507560671	BCKDHA	c.1215C>T (p.Pro405=) c.1224C>T (p.Pro408=) c.1317C>T (p.Pro439=) c.62-17C>T c.922+1788C>T (n.922+1788C>T) c.1212C>T (p.Pro404=)	gnomAD v4
19	g.41424486A>C	CA406015347	BCKDHA	c.1216A>C (p.Asn406His) c.1225A>C (p.Asn409His) c.1318A>C (p.Asn440His) c.62-16A>C c.922+1789A>C (n.922+1789A>C) c.1213A>C (p.Asn405His)
19	g.41424486A>G	CA406015348	BCKDHA	c.1216A>G (p.Asn406Asp) c.1225A>G (p.Asn409Asp) c.1318A>G (p.Asn440Asp) c.62-16A>G c.922+1789A>G (n.922+1789A>G) c.1213A>G (p.Asn405Asp)
19	g.41424486A>T	CA406015349	BCKDHA	c.1216A>T (p.Asn406Tyr) c.1225A>T (p.Asn409Tyr) c.1318A>T (p.Asn440Tyr) c.62-16A>T c.922+1789A>T (n.922+1789A>T) c.1213A>T (p.Asn405Tyr)
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
19	g.41424500A>T	CA507560682	BCKDHA	c.1230A>T (p.Ser410=) c.1239A>T (p.Ser413=) c.1332A>T (p.Ser444=) c.62-2A>T c.922+1803A>T (n.922+1803A>T) c.1227A>T (p.Ser409=)
19	g.41424500dup	CA2336460047	BCKDHA	c.1230dup (p.Asp411ArgfsTer?) c.1239dup (p.Asp414ArgfsTer?) c.1332dup (p.Asp445ArgfsTer?) c.62-2dup c.922+1803dup (n.922+1803dup) c.1227dup (p.Asp410ArgfsTer?)	dbSNP
19	g.41424501G>A	CA406015379	BCKDHA	c.1231G>A (p.Asp411Asn) c.1240G>A (p.Asp414Asn) c.1333G>A (p.Asp445Asn) c.62-1G>A c.922+1804G>A (n.922+1804G>A) c.1228G>A (p.Asp410Asn)
19	g.41424501G>C	CA406015380	BCKDHA	c.1231G>C (p.Asp411His) c.1240G>C (p.Asp414His) c.1333G>C (p.Asp445His) c.62-1G>C c.922+1804G>C (n.922+1804G>C) c.1228G>C (p.Asp410His)
19	g.41424501G>T	CA406015381	BCKDHA	c.1231G>T (p.Asp411Tyr) c.1240G>T (p.Asp414Tyr) c.1333G>T (p.Asp445Tyr) c.62-1G>T c.922+1804G>T (n.922+1804G>T) c.1228G>T (p.Asp410Tyr)
19	g.41424502A>C	CA406015382	BCKDHA	c.1232A>C (p.Asp411Ala) c.1241A>C (p.Asp414Ala) c.1334A>C (p.Asp445Ala) c.62A>C c.922+1805A>C (n.922+1805A>C) c.1229A>C (p.Asp410Ala)
19	g.41424502A>G	CA406015383	BCKDHA	c.1232A>G (p.Asp411Gly) c.1241A>G (p.Asp414Gly) c.1334A>G (p.Asp445Gly) c.62A>G c.922+1805A>G (n.922+1805A>G) c.1229A>G (p.Asp410Gly)
19	g.41424502A>T	CA406015384	BCKDHA	c.1232A>T (p.Asp411Val) c.1241A>T (p.Asp414Val) c.1334A>T (p.Asp445Val) c.62A>T c.922+1805A>T (n.922+1805A>T) c.1229A>T (p.Asp410Val)
19	g.41424503C>A	CA406015386	BCKDHA	c.1233C>A (p.Asp411Glu) c.1242C>A (p.Asp414Glu) c.1335C>A (p.Asp445Glu) c.63C>A c.922+1806C>A (n.922+1806C>A) c.1230C>A (p.Asp410Glu)
19	g.41424503C=	CA2336460048	BCKDHA	c.1233C= (p.Asp411=) c.1242C= (p.Asp414=) c.1335C= (p.Asp445=) c.63C= c.922+1806C= (n.922+1806C=) c.1230C= (p.Asp410=)
19	g.41424503C>G	CA406015385	BCKDHA	c.1233C>G (p.Asp411Glu) c.1242C>G (p.Asp414Glu) c.1335C>G (p.Asp445Glu) c.63C>G c.922+1806C>G (n.922+1806C>G) c.1230C>G (p.Asp410Glu)
19	g.41424503C>T	CA9461410	BCKDHA	c.1233C>T (p.Asp411=) c.1242C>T (p.Asp414=) c.1335C>T (p.Asp445=) c.63C>T c.922+1806C>T (n.922+1806C>T) c.1230C>T (p.Asp410=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424504G>A	CA221182	BCKDHA	c.1234G>A (p.Val412Met) c.1243G>A (p.Val415Met) c.1336G>A (p.Val446Met) c.64G>A c.922+1807G>A (n.922+1807G>A) c.1231G>A (p.Val411Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424504G>C	CA406015387	BCKDHA	c.1234G>C (p.Val412Leu) c.1243G>C (p.Val415Leu) c.1336G>C (p.Val446Leu) c.64G>C c.922+1807G>C (n.922+1807G>C) c.1231G>C (p.Val411Leu)
19	g.41424504G=	CA2336460049	BCKDHA	c.1234G= (p.Val412=) c.1243G= (p.Val415=) c.1336G= (p.Val446=) c.64G= c.922+1807G= (n.922+1807G=) c.1231G= (p.Val411=)
19	g.41424504G>T	CA406015388	BCKDHA	c.1234G>T (p.Val412Leu) c.1243G>T (p.Val415Leu) c.1336G>T (p.Val446Leu) c.64G>T c.922+1807G>T (n.922+1807G>T) c.1231G>T (p.Val411Leu)
19	g.41424505T>A	CA406015389	BCKDHA	c.1235T>A (p.Val412Glu) c.1244T>A (p.Val415Glu) c.1337T>A (p.Val446Glu) c.65T>A c.922+1808T>A (n.922+1808T>A) c.1232T>A (p.Val411Glu)
19	g.41424505T>C	CA406015390	BCKDHA	c.1235T>C (p.Val412Ala) c.1244T>C (p.Val415Ala) c.1337T>C (p.Val446Ala) c.65T>C c.922+1808T>C (n.922+1808T>C) c.1232T>C (p.Val411Ala)	COSMIC
19	g.41424505T>G	CA406015391	BCKDHA	c.1235T>G (p.Val412Gly) c.1244T>G (p.Val415Gly) c.1337T>G (p.Val446Gly) c.65T>G c.922+1808T>G (n.922+1808T>G) c.1232T>G (p.Val411Gly)
19	g.41424506G>A	CA507560683	BCKDHA	c.1236G>A (p.Val412=) c.1245G>A (p.Val415=) c.1338G>A (p.Val446=) c.66G>A c.922+1809G>A (n.922+1809G>A) c.1233G>A (p.Val411=)
19	g.41424506G>C	CA507560684	BCKDHA	c.1236G>C (p.Val412=) c.1245G>C (p.Val415=) c.1338G>C (p.Val446=) c.66G>C c.922+1809G>C (n.922+1809G>C) c.1233G>C (p.Val411=)	ClinVar dbSNP
19	g.41424506G>T	CA507560685	BCKDHA	c.1236G>T (p.Val412=) c.1245G>T (p.Val415=) c.1338G>T (p.Val446=) c.66G>T c.922+1809G>T (n.922+1809G>T) c.1233G>T (p.Val411=)
19	g.41424507T>A	CA406015393	BCKDHA	c.1237T>A (p.Tyr413Asn) c.1246T>A (p.Tyr416Asn) c.1339T>A (p.Tyr447Asn) c.67T>A c.922+1810T>A (n.922+1810T>A) c.1234T>A (p.Tyr412Asn)
19	g.41424507T>C	CA406015394	BCKDHA	c.1237T>C (p.Tyr413His) c.1246T>C (p.Tyr416His) c.1339T>C (p.Tyr447His) c.67T>C c.922+1810T>C (n.922+1810T>C) c.1234T>C (p.Tyr412His)
19	g.41424507T>G	CA406015392	BCKDHA	c.1237T>G (p.Tyr413Asp) c.1246T>G (p.Tyr416Asp) c.1339T>G (p.Tyr447Asp) c.67T>G c.922+1810T>G (n.922+1810T>G) c.1234T>G (p.Tyr412Asp)
19	g.41424507dup	CA2585308447	BCKDHA	c.1237dup (p.Tyr413LeufsTer?) c.1246dup (p.Tyr416LeufsTer?) c.1339dup (p.Tyr447LeufsTer?) c.67dup c.922+1810dup (n.922+1810dup) c.1234dup (p.Tyr412LeufsTer?)	ClinVar gnomAD v4
19	g.41424508A>C	CA406015396	BCKDHA	c.1238A>C (p.Tyr413Ser) c.1247A>C (p.Tyr416Ser) c.1340A>C (p.Tyr447Ser) c.68A>C c.922+1811A>C (n.922+1811A>C) c.1235A>C (p.Tyr412Ser)
19	g.41424508A>G	CA406015395	BCKDHA	c.1238A>G (p.Tyr413Cys) c.1247A>G (p.Tyr416Cys) c.1340A>G (p.Tyr447Cys) c.68A>G c.922+1811A>G (n.922+1811A>G) c.1235A>G (p.Tyr412Cys)	ClinVar gnomAD v4
19	g.41424508A>T	CA406015397	BCKDHA	c.1238A>T (p.Tyr413Phe) c.1247A>T (p.Tyr416Phe) c.1340A>T (p.Tyr447Phe) c.68A>T c.922+1811A>T (n.922+1811A>T) c.1235A>T (p.Tyr412Phe)	gnomAD v4
19	g.41424509T>A	CA406015398	BCKDHA	c.1239T>A (p.Tyr413Ter) c.1248T>A (p.Tyr416Ter) c.1341T>A (p.Tyr447Ter) c.69T>A c.922+1812T>A (n.922+1812T>A) c.1236T>A (p.Tyr412Ter)
19	g.41424509T>C	CA507560686	BCKDHA	c.1239T>C (p.Tyr413=) c.1248T>C (p.Tyr416=) c.1341T>C (p.Tyr447=) c.69T>C c.922+1812T>C (n.922+1812T>C) c.1236T>C (p.Tyr412=)
19	g.41424509T>G	CA406015399	BCKDHA	c.1239T>G (p.Tyr413Ter) c.1248T>G (p.Tyr416Ter) c.1341T>G (p.Tyr447Ter) c.69T>G c.922+1812T>G (n.922+1812T>G) c.1236T>G (p.Tyr412Ter)	COSMIC
19	g.41424510C>A	CA406015400	BCKDHA	c.1240C>A (p.Gln414Lys) c.1249C>A (p.Gln417Lys) c.1342C>A (p.Gln448Lys) c.70C>A c.922+1813C>A (n.922+1813C>A) c.1237C>A (p.Gln413Lys)
19	g.41424510C>G	CA406015401	BCKDHA	c.1240C>G (p.Gln414Glu) c.1249C>G (p.Gln417Glu) c.1342C>G (p.Gln448Glu) c.70C>G c.922+1813C>G (n.922+1813C>G) c.1237C>G (p.Gln413Glu)
19	g.41424510C>T	CA406015402	BCKDHA	c.1240C>T (p.Gln414Ter) c.1249C>T (p.Gln417Ter) c.1342C>T (p.Gln448Ter) c.70C>T c.922+1813C>T (n.922+1813C>T) c.1237C>T (p.Gln413Ter)
19	g.41424511A=	CA2336460050	BCKDHA	c.1241A= (p.Gln414=) c.1250A= (p.Gln417=) c.1343A= (p.Gln448=) c.71A= c.922+1814A= (n.922+1814A=) c.1238A= (p.Gln413=)
19	g.41424511A>C	CA9461411	BCKDHA	c.1241A>C (p.Gln414Pro) c.1250A>C (p.Gln417Pro) c.1343A>C (p.Gln448Pro) c.71A>C c.922+1814A>C (n.922+1814A>C) c.1238A>C (p.Gln413Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.41424511A>G	CA406015403	BCKDHA	c.1241A>G (p.Gln414Arg) c.1250A>G (p.Gln417Arg) c.1343A>G (p.Gln448Arg) c.71A>G c.922+1814A>G (n.922+1814A>G) c.1238A>G (p.Gln413Arg)	gnomAD v4
19	g.41424511A>T	CA406015404	BCKDHA	c.1241A>T (p.Gln414Leu) c.1250A>T (p.Gln417Leu) c.1343A>T (p.Gln448Leu) c.71A>T c.922+1814A>T (n.922+1814A>T) c.1238A>T (p.Gln413Leu)
19	g.41424512G>A	CA507560688	BCKDHA	c.1242G>A (p.Gln414=) c.1251G>A (p.Gln417=) c.1344G>A (p.Gln448=) c.72G>A c.922+1815G>A (n.922+1815G>A) c.1239G>A (p.Gln413=)
19	g.41424512G>C	CA406015405	BCKDHA	c.1242G>C (p.Gln414His) c.1251G>C (p.Gln417His) c.1344G>C (p.Gln448His) c.72G>C c.922+1815G>C (n.922+1815G>C) c.1239G>C (p.Gln413His)
19	g.41424512G>T	CA406015406	BCKDHA	c.1242G>T (p.Gln414His) c.1251G>T (p.Gln417His) c.1344G>T (p.Gln448His) c.72G>T c.922+1815G>T (n.922+1815G>T) c.1239G>T (p.Gln413His)
19	g.41424513G>A	CA9461412	BCKDHA	c.1243G>A (p.Glu415Lys) c.1252G>A (p.Glu418Lys) c.1345G>A (p.Glu449Lys) c.73G>A c.922+1816G>A (n.922+1816G>A) c.1240G>A (p.Glu414Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.41424513G>C	CA406015407	BCKDHA	c.1243G>C (p.Glu415Gln) c.1252G>C (p.Glu418Gln) c.1345G>C (p.Glu449Gln) c.73G>C c.922+1816G>C (n.922+1816G>C) c.1240G>C (p.Glu414Gln)
19	g.41424513G=	CA2336460051	BCKDHA	c.1243G= (p.Glu415=) c.1252G= (p.Glu418=) c.1345G= (p.Glu449=) c.73G= c.922+1816G= (n.922+1816G=) c.1240G= (p.Glu414=)
19	g.41424513G>T	CA406015408	BCKDHA	c.1243G>T (p.Glu415Ter) c.1252G>T (p.Glu418Ter) c.1345G>T (p.Glu449Ter) c.73G>T c.922+1816G>T (n.922+1816G>T) c.1240G>T (p.Glu414Ter)
19	g.41424514A>C	CA406015409	BCKDHA	c.1244A>C (p.Glu415Ala) c.1253A>C (p.Glu418Ala) c.1346A>C (p.Glu449Ala) c.74A>C c.922+1817A>C (n.922+1817A>C) c.1241A>C (p.Glu414Ala)
19	g.41424514A>G	CA406015410	BCKDHA	c.1244A>G (p.Glu415Gly) c.1253A>G (p.Glu418Gly) c.1346A>G (p.Glu449Gly) c.74A>G c.922+1817A>G (n.922+1817A>G) c.1241A>G (p.Glu414Gly)
19	g.41424514A>T	CA406015411	BCKDHA	c.1244A>T (p.Glu415Val) c.1253A>T (p.Glu418Val) c.1346A>T (p.Glu449Val) c.74A>T c.922+1817A>T (n.922+1817A>T) c.1241A>T (p.Glu414Val)	dbSNP
19	g.41424515G>A	CA507560689	BCKDHA	c.1245G>A (p.Glu415=) c.1254G>A (p.Glu418=) c.1347G>A (p.Glu449=) c.75G>A c.922+1818G>A (n.922+1818G>A) c.1242G>A (p.Glu414=)
19	g.41424515G>C	CA406015412	BCKDHA	c.1245G>C (p.Glu415Asp) c.1254G>C (p.Glu418Asp) c.1347G>C (p.Glu449Asp) c.75G>C c.922+1818G>C (n.922+1818G>C) c.1242G>C (p.Glu414Asp)
19	g.41424515G>T	CA406015413	BCKDHA	c.1245G>T (p.Glu415Asp) c.1254G>T (p.Glu418Asp) c.1347G>T (p.Glu449Asp) c.75G>T c.922+1818G>T (n.922+1818G>T) c.1242G>T (p.Glu414Asp)
19	g.41424516A=	CA2336460052	BCKDHA	c.1246A= (p.Met416=) c.1255A= (p.Met419=) c.1348A= (p.Met450=) c.76A= c.922+1819A= (n.922+1819A=) c.1243A= (p.Met415=)
19	g.41424516A>C	CA406015414	BCKDHA	c.1246A>C (p.Met416Leu) c.1255A>C (p.Met419Leu) c.1348A>C (p.Met450Leu) c.76A>C c.922+1819A>C (n.922+1819A>C) c.1243A>C (p.Met415Leu)
19	g.41424516A>G	CA9461413	BCKDHA	c.1246A>G (p.Met416Val) c.1255A>G (p.Met419Val) c.1348A>G (p.Met450Val) c.76A>G c.922+1819A>G (n.922+1819A>G) c.1243A>G (p.Met415Val)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.41424516A>T	CA406015415	BCKDHA	c.1246A>T (p.Met416Leu) c.1255A>T (p.Met419Leu) c.1348A>T (p.Met450Leu) c.76A>T c.922+1819A>T (n.922+1819A>T) c.1243A>T (p.Met415Leu)
19	g.41424517T>A	CA406015416	BCKDHA	c.1247T>A (p.Met416Lys) c.1256T>A (p.Met419Lys) c.1349T>A (p.Met450Lys) c.77T>A c.922+1820T>A (n.922+1820T>A) c.1244T>A (p.Met415Lys)
19	g.41424517T>C	CA406015417	BCKDHA	c.1247T>C (p.Met416Thr) c.1256T>C (p.Met419Thr) c.1349T>C (p.Met450Thr) c.77T>C c.922+1820T>C (n.922+1820T>C) c.1244T>C (p.Met415Thr)
19	g.41424517T>G	CA406015418	BCKDHA	c.1247T>G (p.Met416Arg) c.1256T>G (p.Met419Arg) c.1349T>G (p.Met450Arg) c.77T>G c.922+1820T>G (n.922+1820T>G) c.1244T>G (p.Met415Arg)
19	g.41424517_41424521delinsTGCCC	CA2336460053	BCKDHA	c.1247_1251delinsTGCCC (p.Met416=) c.1256_1260delinsTGCCC (p.Met419=) c.1349_1353delinsTGCCC (p.Met450=) c.77_81delinsTGCCC c.922+1820_922+1824delinsTGCCC (n.922+1820_922+1824delinsTGCCC) c.1244_1248delinsTGCCC (p.Met415=)
19	g.41424518G>A	CA406015419	BCKDHA	c.1248G>A (p.Met416Ile) c.1257G>A (p.Met419Ile) c.1350G>A (p.Met450Ile) c.78G>A c.922+1821G>A (n.922+1821G>A) c.1245G>A (p.Met415Ile)
19	g.41424518G>C	CA406015420	BCKDHA	c.1248G>C (p.Met416Ile) c.1257G>C (p.Met419Ile) c.1350G>C (p.Met450Ile) c.78G>C c.922+1821G>C (n.922+1821G>C) c.1245G>C (p.Met415Ile)
19	g.41424518G>T	CA406015421	BCKDHA	c.1248G>T (p.Met416Ile) c.1257G>T (p.Met419Ile) c.1350G>T (p.Met450Ile) c.78G>T c.922+1821G>T (n.922+1821G>T) c.1245G>T (p.Met415Ile)
19	g.41424522_41424525del	CA995977497	BCKDHA	c.1252_1255del (p.Ala418SerfsTer?) c.1261_1264del (p.Ala421SerfsTer?) c.1354_1357del (p.Ala452SerfsTer?) c.82_85del c.922+1825_922+1828del (n.922+1825_922+1828del) c.1249_1252del (p.Ala417SerfsTer?)	dbSNP gnomAD v3 gnomAD v4
19	g.41424519C>A	CA406015422	BCKDHA	c.1249C>A (p.Pro417Thr) c.1258C>A (p.Pro420Thr) c.1351C>A (p.Pro451Thr) c.79C>A c.922+1822C>A (n.922+1822C>A) c.1246C>A (p.Pro416Thr)	dbSNP gnomAD v2 gnomAD v4
19	g.41424519C=	CA2336460054	BCKDHA	c.1249C= (p.Pro417=) c.1258C= (p.Pro420=) c.1351C= (p.Pro451=) c.79C= c.922+1822C= (n.922+1822C=) c.1246C= (p.Pro416=)
19	g.41424519C>G	CA406015423	BCKDHA	c.1249C>G (p.Pro417Ala) c.1258C>G (p.Pro420Ala) c.1351C>G (p.Pro451Ala) c.79C>G c.922+1822C>G (n.922+1822C>G) c.1246C>G (p.Pro416Ala)
19	g.41424519C>T	CA406015424	BCKDHA	c.1249C>T (p.Pro417Ser) c.1258C>T (p.Pro420Ser) c.1351C>T (p.Pro451Ser) c.79C>T c.922+1822C>T (n.922+1822C>T) c.1246C>T (p.Pro416Ser)	dbSNP
19	g.41424521del	CA2586963979	BCKDHA	c.1251del (p.Ala418ProfsTer?) c.1260del (p.Ala421ProfsTer?) c.1353del (p.Ala452ProfsTer?) c.81del c.922+1824del (n.922+1824del) c.1248del (p.Ala417ProfsTer?)	ClinVar
19	g.41424520C>A	CA406015425	BCKDHA	c.1250C>A (p.Pro417His) c.1259C>A (p.Pro420His) c.1352C>A (p.Pro451His) c.80C>A c.922+1823C>A (n.922+1823C>A) c.1247C>A (p.Pro416His)
19	g.41424520C>G	CA406015429	BCKDHA	c.1250C>G (p.Pro417Arg) c.1259C>G (p.Pro420Arg) c.1352C>G (p.Pro451Arg) c.80C>G c.922+1823C>G (n.922+1823C>G) c.1247C>G (p.Pro416Arg)
19	g.41424520C>T	CA406015427	BCKDHA	c.1250C>T (p.Pro417Leu) c.1259C>T (p.Pro420Leu) c.1352C>T (p.Pro451Leu) c.80C>T c.922+1823C>T (n.922+1823C>T) c.1247C>T (p.Pro416Leu)
19	g.41424521C>A	CA507560690	BCKDHA	c.1251C>A (p.Pro417=) c.1260C>A (p.Pro420=) c.1353C>A (p.Pro451=) c.81C>A c.922+1824C>A (n.922+1824C>A) c.1248C>A (p.Pro416=)	gnomAD v4
19	g.41424521C=	CA2336460055	BCKDHA	c.1251C= (p.Pro417=) c.1260C= (p.Pro420=) c.1353C= (p.Pro451=) c.81C= c.922+1824C= (n.922+1824C=) c.1248C= (p.Pro416=)
19	g.41424521C>G	CA507560691	BCKDHA	c.1251C>G (p.Pro417=) c.1260C>G (p.Pro420=) c.1353C>G (p.Pro451=) c.81C>G c.922+1824C>G (n.922+1824C>G) c.1248C>G (p.Pro416=)	dbSNP gnomAD v2 gnomAD v4
19	g.41424521C>T	CA233525	BCKDHA	c.1251C>T (p.Pro417=) c.1260C>T (p.Pro420=) c.1353C>T (p.Pro451=) c.81C>T c.922+1824C>T (n.922+1824C>T) c.1248C>T (p.Pro416=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.41424522G>A	CA9461414	BCKDHA	c.1252G>A (p.Ala418Thr) c.1261G>A (p.Ala421Thr) c.1354G>A (p.Ala452Thr) c.82G>A c.922+1825G>A (n.922+1825G>A) c.1249G>A (p.Ala417Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.41424522G>C	CA406015433	BCKDHA	c.1252G>C (p.Ala418Pro) c.1261G>C (p.Ala421Pro) c.1354G>C (p.Ala452Pro) c.82G>C c.922+1825G>C (n.922+1825G>C) c.1249G>C (p.Ala417Pro)
19	g.41424522G=	CA2336460056	BCKDHA	c.1252G= (p.Ala418=) c.1261G= (p.Ala421=) c.1354G= (p.Ala452=) c.82G= c.922+1825G= (n.922+1825G=) c.1249G= (p.Ala417=)
19	g.41424522G>T	CA406015435	BCKDHA	c.1252G>T (p.Ala418Ser) c.1261G>T (p.Ala421Ser) c.1354G>T (p.Ala452Ser) c.82G>T c.922+1825G>T (n.922+1825G>T) c.1249G>T (p.Ala417Ser)	gnomAD v4
19	g.41424523C>A	CA406015437	BCKDHA	c.1253C>A (p.Ala418Asp) c.1262C>A (p.Ala421Asp) c.1355C>A (p.Ala452Asp) c.83C>A c.922+1826C>A (n.922+1826C>A) c.1250C>A (p.Ala417Asp)
19	g.41424523C>G	CA406015439	BCKDHA	c.1253C>G (p.Ala418Gly) c.1262C>G (p.Ala421Gly) c.1355C>G (p.Ala452Gly) c.83C>G c.922+1826C>G (n.922+1826C>G) c.1250C>G (p.Ala417Gly)
19	g.41424523C>T	CA406015440	BCKDHA	c.1253C>T (p.Ala418Val) c.1262C>T (p.Ala421Val) c.1355C>T (p.Ala452Val) c.83C>T c.922+1826C>T (n.922+1826C>T) c.1250C>T (p.Ala417Val)
19	g.41424524C>A	CA507560692	BCKDHA	c.1254C>A (p.Ala418=) c.1263C>A (p.Ala421=) c.1356C>A (p.Ala452=) c.84C>A c.922+1827C>A (n.922+1827C>A) c.1251C>A (p.Ala417=)
19	g.41424524C>G	CA507560693	BCKDHA	c.1254C>G (p.Ala418=) c.1263C>G (p.Ala421=) c.1356C>G (p.Ala452=) c.84C>G c.922+1827C>G (n.922+1827C>G) c.1251C>G (p.Ala417=)
19	g.41424524C>T	CA507560694	BCKDHA	c.1254C>T (p.Ala418=) c.1263C>T (p.Ala421=) c.1356C>T (p.Ala452=) c.84C>T c.922+1827C>T (n.922+1827C>T) c.1251C>T (p.Ala417=)
19	g.41424525C>A	CA406015441	BCKDHA	c.1255C>A (p.Gln419Lys) c.1264C>A (p.Gln422Lys) c.1357C>A (p.Gln453Lys) c.85C>A c.922+1828C>A (n.922+1828C>A) c.1252C>A (p.Gln418Lys)
19	g.41424525C=	CA2336460057	BCKDHA	c.1255C= (p.Gln419=) c.1264C= (p.Gln422=) c.1357C= (p.Gln453=) c.85C= c.922+1828C= (n.922+1828C=) c.1252C= (p.Gln418=)
19	g.41424525C>G	CA406015443	BCKDHA	c.1255C>G (p.Gln419Glu) c.1264C>G (p.Gln422Glu) c.1357C>G (p.Gln453Glu) c.85C>G c.922+1828C>G (n.922+1828C>G) c.1252C>G (p.Gln418Glu)	gnomAD v4
19	g.41424525C>T	CA406015445	BCKDHA	c.1255C>T (p.Gln419Ter) c.1264C>T (p.Gln422Ter) c.1357C>T (p.Gln453Ter) c.85C>T c.922+1828C>T (n.922+1828C>T) c.1252C>T (p.Gln418Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
19	g.41424526A=	CA2336460058	BCKDHA	c.1256A= (p.Gln419=) c.1265A= (p.Gln422=) c.1358A= (p.Gln453=) c.86A= c.922+1829A= (n.922+1829A=) c.1253A= (p.Gln418=)
19	g.41424526A>C	CA406015450	BCKDHA	c.1256A>C (p.Gln419Pro) c.1265A>C (p.Gln422Pro) c.1358A>C (p.Gln453Pro) c.86A>C c.922+1829A>C (n.922+1829A>C) c.1253A>C (p.Gln418Pro)
19	g.41424526A>G	CA9461415	BCKDHA	c.1256A>G (p.Gln419Arg) c.1265A>G (p.Gln422Arg) c.1358A>G (p.Gln453Arg) c.86A>G c.922+1829A>G (n.922+1829A>G) c.1253A>G (p.Gln418Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424526A>T	CA406015447	BCKDHA	c.1256A>T (p.Gln419Leu) c.1265A>T (p.Gln422Leu) c.1358A>T (p.Gln453Leu) c.86A>T c.922+1829A>T (n.922+1829A>T) c.1253A>T (p.Gln418Leu)
19	g.41424527G>A	CA507560695	BCKDHA	c.1257G>A (p.Gln419=) c.1266G>A (p.Gln422=) c.1359G>A (p.Gln453=) c.87G>A c.922+1830G>A (n.922+1830G>A) c.1254G>A (p.Gln418=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424527G>C	CA406015452	BCKDHA	c.1257G>C (p.Gln419His) c.1266G>C (p.Gln422His) c.1359G>C (p.Gln453His) c.87G>C c.922+1830G>C (n.922+1830G>C) c.1254G>C (p.Gln418His)
19	g.41424527G=	CA2336460059	BCKDHA	c.1257G= (p.Gln419=) c.1266G= (p.Gln422=) c.1359G= (p.Gln453=) c.87G= c.922+1830G= (n.922+1830G=) c.1254G= (p.Gln418=)
19	g.41424527G>T	CA406015453	BCKDHA	c.1257G>T (p.Gln419His) c.1266G>T (p.Gln422His) c.1359G>T (p.Gln453His) c.87G>T c.922+1830G>T (n.922+1830G>T) c.1254G>T (p.Gln418His)
19	g.41424528C>A	CA406015455	BCKDHA	c.1258C>A (p.Leu420Ile) c.1267C>A (p.Leu423Ile) c.1360C>A (p.Leu454Ile) c.88C>A c.922+1831C>A (n.922+1831C>A) c.1255C>A (p.Leu419Ile)
19	g.41424528C>G	CA406015458	BCKDHA	c.1258C>G (p.Leu420Val) c.1267C>G (p.Leu423Val) c.1360C>G (p.Leu454Val) c.88C>G c.922+1831C>G (n.922+1831C>G) c.1255C>G (p.Leu419Val)
19	g.41424528C>T	CA406015459	BCKDHA	c.1258C>T (p.Leu420Phe) c.1267C>T (p.Leu423Phe) c.1360C>T (p.Leu454Phe) c.88C>T c.922+1831C>T (n.922+1831C>T) c.1255C>T (p.Leu419Phe)
19	g.41424529T>A	CA406015462	BCKDHA	c.1259T>A (p.Leu420His) c.1268T>A (p.Leu423His) c.1361T>A (p.Leu454His) c.89T>A c.922+1832T>A (n.922+1832T>A) c.1256T>A (p.Leu419His)
19	g.41424529T>C	CA406015464	BCKDHA	c.1259T>C (p.Leu420Pro) c.1268T>C (p.Leu423Pro) c.1361T>C (p.Leu454Pro) c.89T>C c.922+1832T>C (n.922+1832T>C) c.1256T>C (p.Leu419Pro)
19	g.41424529T>G	CA406015465	BCKDHA	c.1259T>G (p.Leu420Arg) c.1268T>G (p.Leu423Arg) c.1361T>G (p.Leu454Arg) c.89T>G c.922+1832T>G (n.922+1832T>G) c.1256T>G (p.Leu419Arg)
19	g.41424530C>A	CA507560696	BCKDHA	c.1260C>A (p.Leu420=) c.1269C>A (p.Leu423=) c.1362C>A (p.Leu454=) c.90C>A c.922+1833C>A (n.922+1833C>A) c.1257C>A (p.Leu419=)
19	g.41424530C=	CA2336460060	BCKDHA	c.1260C= (p.Leu420=) c.1269C= (p.Leu423=) c.1362C= (p.Leu454=) c.90C= c.922+1833C= (n.922+1833C=) c.1257C= (p.Leu419=)
19	g.41424530C>G	CA507560697	BCKDHA	c.1260C>G (p.Leu420=) c.1269C>G (p.Leu423=) c.1362C>G (p.Leu454=) c.90C>G c.922+1833C>G (n.922+1833C>G) c.1257C>G (p.Leu419=)
19	g.41424530C>T	CA146871	BCKDHA	c.1260C>T (p.Leu420=) c.1269C>T (p.Leu423=) c.1362C>T (p.Leu454=) c.90C>T c.922+1833C>T (n.922+1833C>T) c.1257C>T (p.Leu419=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424531C>A	CA406015469	BCKDHA	c.1261C>A (p.Arg421Ser) c.1270C>A (p.Arg424Ser) c.1363C>A (p.Arg455Ser) c.91C>A c.922+1834C>A (n.922+1834C>A) c.1258C>A (p.Arg420Ser)
19	g.41424531C=	CA2336460061	BCKDHA	c.1261C= (p.Arg421=) c.1270C= (p.Arg424=) c.1363C= (p.Arg455=) c.91C= c.922+1834C= (n.922+1834C=) c.1258C= (p.Arg420=)
19	g.41424531C>G	CA406015470	BCKDHA	c.1261C>G (p.Arg421Gly) c.1270C>G (p.Arg424Gly) c.1363C>G (p.Arg455Gly) c.91C>G c.922+1834C>G (n.922+1834C>G) c.1258C>G (p.Arg420Gly)	dbSNP gnomAD v4
19	g.41424531C>T	CA9461416	BCKDHA	c.1261C>T (p.Arg421Cys) c.1270C>T (p.Arg424Cys) c.1363C>T (p.Arg455Cys) c.91C>T c.922+1834C>T (n.922+1834C>T) c.1258C>T (p.Arg420Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424532G>A	CA9461417	BCKDHA	c.1262G>A (p.Arg421His) c.1271G>A (p.Arg424His) c.1364G>A (p.Arg455His) c.92G>A c.922+1835G>A (n.922+1835G>A) c.1259G>A (p.Arg420His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19	g.41424532G>C	CA406015476	BCKDHA	c.1262G>C (p.Arg421Pro) c.1271G>C (p.Arg424Pro) c.1364G>C (p.Arg455Pro) c.92G>C c.922+1835G>C (n.922+1835G>C) c.1259G>C (p.Arg420Pro)
19	g.41424532G=	CA2336460062	BCKDHA	c.1262G= (p.Arg421=) c.1271G= (p.Arg424=) c.1364G= (p.Arg455=) c.92G= c.922+1835G= (n.922+1835G=) c.1259G= (p.Arg420=)
19	g.41424532G>T	CA406015473	BCKDHA	c.1262G>T (p.Arg421Leu) c.1271G>T (p.Arg424Leu) c.1364G>T (p.Arg455Leu) c.92G>T c.922+1835G>T (n.922+1835G>T) c.1259G>T (p.Arg420Leu)
19	g.41424535_41424538del	CA913016479	BCKDHA	c.1265_1268del (p.Lys422SerfsTer?) c.1274_1277del (p.Lys425SerfsTer?) c.1367_1370del (p.Lys456SerfsTer?) c.95_98del c.922+1838_922+1841del (n.922+1838_922+1841del) c.1262_1265del (p.Lys421SerfsTer?)
19	g.41424533C>A	CA507560698	BCKDHA	c.1263C>A (p.Arg421=) c.1272C>A (p.Arg424=) c.1365C>A (p.Arg455=) c.93C>A c.922+1836C>A (n.922+1836C>A) c.1260C>A (p.Arg420=)
19	g.41424533C=	CA2336460063	BCKDHA	c.1263C= (p.Arg421=) c.1272C= (p.Arg424=) c.1365C= (p.Arg455=) c.93C= c.922+1836C= (n.922+1836C=) c.1260C= (p.Arg420=)
19	g.41424533C>G	CA507560699	BCKDHA	c.1263C>G (p.Arg421=) c.1272C>G (p.Arg424=) c.1365C>G (p.Arg455=) c.93C>G c.922+1836C>G (n.922+1836C>G) c.1260C>G (p.Arg420=)
19	g.41424533C>T	CA9461418	BCKDHA	c.1263C>T (p.Arg421=) c.1272C>T (p.Arg424=) c.1365C>T (p.Arg455=) c.93C>T c.922+1836C>T (n.922+1836C>T) c.1260C>T (p.Arg420=)	dbSNP ExAC gnomAD v2 gnomAD v4
19	g.41424534A=	CA2336460064	BCKDHA	c.1264A= (p.Lys422=) c.1273A= (p.Lys425=) c.1366A= (p.Lys456=) c.94A= c.922+1837A= (n.922+1837A=) c.1261A= (p.Lys421=)
19	g.41424534A>C	CA406015479	BCKDHA	c.1264A>C (p.Lys422Gln) c.1273A>C (p.Lys425Gln) c.1366A>C (p.Lys456Gln) c.94A>C c.922+1837A>C (n.922+1837A>C) c.1261A>C (p.Lys421Gln)
19	g.41424534A>G	CA406015480	BCKDHA	c.1264A>G (p.Lys422Glu) c.1273A>G (p.Lys425Glu) c.1366A>G (p.Lys456Glu) c.94A>G c.922+1837A>G (n.922+1837A>G) c.1261A>G (p.Lys421Glu)	dbSNP gnomAD v4
19	g.41424534A>T	CA406015482	BCKDHA	c.1264A>T (p.Lys422Ter) c.1273A>T (p.Lys425Ter) c.1366A>T (p.Lys456Ter) c.94A>T c.922+1837A>T (n.922+1837A>T) c.1261A>T (p.Lys421Ter)
19	g.41424534_41424537delinsAAGC	CA2336460065	BCKDHA	c.1264_1267delinsAAGC (p.Lys422=) c.1273_1276delinsAAGC (p.Lys425=) c.1366_1369delinsAAGC (p.Lys456=) c.94_97delinsAAGC c.922+1837_922+1840delinsAAGC (n.922+1837_922+1840delinsAAGC) c.1261_1264delinsAAGC (p.Lys421=)
19	g.41424535A>C	CA406015484	BCKDHA	c.1265A>C (p.Lys422Thr) c.1274A>C (p.Lys425Thr) c.1367A>C (p.Lys456Thr) c.95A>C c.922+1838A>C (n.922+1838A>C) c.1262A>C (p.Lys421Thr)
19	g.41424535A>G	CA406015486	BCKDHA	c.1265A>G (p.Lys422Arg) c.1274A>G (p.Lys425Arg) c.1367A>G (p.Lys456Arg) c.95A>G c.922+1838A>G (n.922+1838A>G) c.1262A>G (p.Lys421Arg)
19	g.41424535A>T	CA406015488	BCKDHA	c.1265A>T (p.Lys422Met) c.1274A>T (p.Lys425Met) c.1367A>T (p.Lys456Met) c.95A>T c.922+1838A>T (n.922+1838A>T) c.1262A>T (p.Lys421Met)
19	g.41424540_41424542del	CA658823825	BCKDHA	c.1270_1272del (p.Gln424del) c.1279_1281del (p.Gln427del) c.1372_1374del (p.Gln458del) c.100_102del c.922+1843_922+1845del (n.922+1843_922+1845del) c.1267_1269del (p.Gln423del)	ClinVar dbSNP
19	g.41424536G>A	CA507560701	BCKDHA	c.1266G>A (p.Lys422=) c.1275G>A (p.Lys425=) c.1368G>A (p.Lys456=) c.96G>A c.922+1839G>A (n.922+1839G>A) c.1263G>A (p.Lys421=)
19	g.41424536G>C	CA406015489	BCKDHA	c.1266G>C (p.Lys422Asn) c.1275G>C (p.Lys425Asn) c.1368G>C (p.Lys456Asn) c.96G>C c.922+1839G>C (n.922+1839G>C) c.1263G>C (p.Lys421Asn)
19	g.41424536G>T	CA406015491	BCKDHA	c.1266G>T (p.Lys422Asn) c.1275G>T (p.Lys425Asn) c.1368G>T (p.Lys456Asn) c.96G>T c.922+1839G>T (n.922+1839G>T) c.1263G>T (p.Lys421Asn)
19	g.41424537C>A	CA406015494	BCKDHA	c.1267C>A (p.Gln423Lys) c.1276C>A (p.Gln426Lys) c.1369C>A (p.Gln457Lys) c.97C>A c.922+1840C>A (n.922+1840C>A) c.1264C>A (p.Gln422Lys)
19	g.41424537C=	CA2336460066	BCKDHA	c.1267C= (p.Gln423=) c.1276C= (p.Gln426=) c.1369C= (p.Gln457=) c.97C= c.922+1840C= (n.922+1840C=) c.1264C= (p.Gln422=)
19	g.41424537C>G	CA406015495	BCKDHA	c.1267C>G (p.Gln423Glu) c.1276C>G (p.Gln426Glu) c.1369C>G (p.Gln457Glu) c.97C>G c.922+1840C>G (n.922+1840C>G) c.1264C>G (p.Gln422Glu)
19	g.41424537C>T	CA406015497	BCKDHA	c.1267C>T (p.Gln423Ter) c.1276C>T (p.Gln426Ter) c.1369C>T (p.Gln457Ter) c.97C>T c.922+1840C>T (n.922+1840C>T) c.1264C>T (p.Gln422Ter)	dbSNP
19	g.41424538A>C	CA406015499	BCKDHA	c.1268A>C (p.Gln423Pro) c.1277A>C (p.Gln426Pro) c.1370A>C (p.Gln457Pro) c.98A>C c.922+1841A>C (n.922+1841A>C) c.1265A>C (p.Gln422Pro)
19	g.41424538A>G	CA406015501	BCKDHA	c.1268A>G (p.Gln423Arg) c.1277A>G (p.Gln426Arg) c.1370A>G (p.Gln457Arg) c.98A>G c.922+1841A>G (n.922+1841A>G) c.1265A>G (p.Gln422Arg)
19	g.41424538A>T	CA406015503	BCKDHA	c.1268A>T (p.Gln423Leu) c.1277A>T (p.Gln426Leu) c.1370A>T (p.Gln457Leu) c.98A>T c.922+1841A>T (n.922+1841A>T) c.1265A>T (p.Gln422Leu)
19	g.41424539G>A	CA507560702	BCKDHA	c.1269G>A (p.Gln423=) c.1278G>A (p.Gln426=) c.1371G>A (p.Gln457=) c.99G>A c.922+1842G>A (n.922+1842G>A) c.1266G>A (p.Gln422=)	COSMIC
19	g.41424539G>C	CA406015505	BCKDHA	c.1269G>C (p.Gln423His) c.1278G>C (p.Gln426His) c.1371G>C (p.Gln457His) c.99G>C c.922+1842G>C (n.922+1842G>C) c.1266G>C (p.Gln422His)
19	g.41424539G>T	CA406015506	BCKDHA	c.1269G>T (p.Gln423His) c.1278G>T (p.Gln426His) c.1371G>T (p.Gln457His) c.99G>T c.922+1842G>T (n.922+1842G>T) c.1266G>T (p.Gln422His)
19	g.41424540C>A	CA9461419	BCKDHA	c.1270C>A (p.Gln424Lys) c.1279C>A (p.Gln427Lys) c.1372C>A (p.Gln458Lys) c.100C>A c.922+1843C>A (n.922+1843C>A) c.1267C>A (p.Gln423Lys)	dbSNP ExAC gnomAD v4
19	g.41424540C=	CA2336460067	BCKDHA	c.1270C= (p.Gln424=) c.1279C= (p.Gln427=) c.1372C= (p.Gln458=) c.100C= c.922+1843C= (n.922+1843C=) c.1267C= (p.Gln423=)
19	g.41424540C>G	CA406015508	BCKDHA	c.1270C>G (p.Gln424Glu) c.1279C>G (p.Gln427Glu) c.1372C>G (p.Gln458Glu) c.100C>G c.922+1843C>G (n.922+1843C>G) c.1267C>G (p.Gln423Glu)	dbSNP gnomAD v4
19	g.41424540C>T	CA406015510	BCKDHA	c.1270C>T (p.Gln424Ter) c.1279C>T (p.Gln427Ter) c.1372C>T (p.Gln458Ter) c.100C>T c.922+1843C>T (n.922+1843C>T) c.1267C>T (p.Gln423Ter)	dbSNP
19	g.41424540dup	CA2695228772	BCKDHA	c.1270dup (p.Gln424ProfsTer22) c.1279dup (p.Gln427ProfsTer22) c.1372dup (p.Gln458ProfsTer22) c.100dup c.922+1843dup (n.922+1843dup) c.1267dup (p.Gln423ProfsTer22)
19	g.41424541A>C	CA406015512	BCKDHA	c.1271A>C (p.Gln424Pro) c.1280A>C (p.Gln427Pro) c.1373A>C (p.Gln458Pro) c.101A>C c.922+1844A>C (n.922+1844A>C) c.1268A>C (p.Gln423Pro)
19	g.41424541A>G	CA406015514	BCKDHA	c.1271A>G (p.Gln424Arg) c.1280A>G (p.Gln427Arg) c.1373A>G (p.Gln458Arg) c.101A>G c.922+1844A>G (n.922+1844A>G) c.1268A>G (p.Gln423Arg)
19	g.41424541A>T	CA406015516	BCKDHA	c.1271A>T (p.Gln424Leu) c.1280A>T (p.Gln427Leu) c.1373A>T (p.Gln458Leu) c.101A>T c.922+1844A>T (n.922+1844A>T) c.1268A>T (p.Gln423Leu)	COSMIC
19	g.41424542G>A	CA507560703	BCKDHA	c.1272G>A (p.Gln424=) c.1281G>A (p.Gln427=) c.1374G>A (p.Gln458=) c.102G>A c.922+1845G>A (n.922+1845G>A) c.1269G>A (p.Gln423=)	dbSNP gnomAD v3 gnomAD v4
19	g.41424542G>C	CA406015518	BCKDHA	c.1272G>C (p.Gln424His) c.1281G>C (p.Gln427His) c.1374G>C (p.Gln458His) c.102G>C c.922+1845G>C (n.922+1845G>C) c.1269G>C (p.Gln423His)
19	g.41424542G=	CA2336460068	BCKDHA	c.1272G= (p.Gln424=) c.1281G= (p.Gln427=) c.1374G= (p.Gln458=) c.102G= c.922+1845G= (n.922+1845G=) c.1269G= (p.Gln423=)
19	g.41424542G>T	CA406015520	BCKDHA	c.1272G>T (p.Gln424His) c.1281G>T (p.Gln427His) c.1374G>T (p.Gln458His) c.102G>T c.922+1845G>T (n.922+1845G>T) c.1269G>T (p.Gln423His)
19	g.41424543G>A	CA406015522	BCKDHA	c.1273G>A (p.Glu425Lys) c.1282G>A (p.Glu428Lys) c.1375G>A (p.Glu459Lys) c.103G>A c.922+1846G>A (n.922+1846G>A) c.1270G>A (p.Glu424Lys)	gnomAD v4
19	g.41424543G>C	CA406015524	BCKDHA	c.1273G>C (p.Glu425Gln) c.1282G>C (p.Glu428Gln) c.1375G>C (p.Glu459Gln) c.103G>C c.922+1846G>C (n.922+1846G>C) c.1270G>C (p.Glu424Gln)
19	g.41424543G>T	CA406015527	BCKDHA	c.1273G>T (p.Glu425Ter) c.1282G>T (p.Glu428Ter) c.1375G>T (p.Glu459Ter) c.103G>T c.922+1846G>T (n.922+1846G>T) c.1270G>T (p.Glu424Ter)
19	g.41424544A>C	CA406015532	BCKDHA	c.1274A>C (p.Glu425Ala) c.1283A>C (p.Glu428Ala) c.1376A>C (p.Glu459Ala) c.104A>C c.922+1847A>C (n.922+1847A>C) c.1271A>C (p.Glu424Ala)
19	g.41424544A>G	CA406015530	BCKDHA	c.1274A>G (p.Glu425Gly) c.1283A>G (p.Glu428Gly) c.1376A>G (p.Glu459Gly) c.104A>G c.922+1847A>G (n.922+1847A>G) c.1271A>G (p.Glu424Gly)
19	g.41424544A>T	CA406015528	BCKDHA	c.1274A>T (p.Glu425Val) c.1283A>T (p.Glu428Val) c.1376A>T (p.Glu459Val) c.104A>T c.922+1847A>T (n.922+1847A>T) c.1271A>T (p.Glu424Val)
19	g.41424545G>A	CA507560704	BCKDHA	c.1275G>A (p.Glu425=) c.1284G>A (p.Glu428=) c.1377G>A (p.Glu459=) c.105G>A c.922+1848G>A (n.922+1848G>A) c.1272G>A (p.Glu424=)	ClinVar dbSNP
19	g.41424545G>C	CA406015534	BCKDHA	c.1275G>C (p.Glu425Asp) c.1284G>C (p.Glu428Asp) c.1377G>C (p.Glu459Asp) c.105G>C c.922+1848G>C (n.922+1848G>C) c.1272G>C (p.Glu424Asp)
19	g.41424545G>T	CA406015536	BCKDHA	c.1275G>T (p.Glu425Asp) c.1284G>T (p.Glu428Asp) c.1377G>T (p.Glu459Asp) c.105G>T c.922+1848G>T (n.922+1848G>T) c.1272G>T (p.Glu424Asp)
19	g.41424546T>A	CA406015538	BCKDHA	c.1276T>A (p.Ser426Thr) c.1285T>A (p.Ser429Thr) c.1378T>A (p.Ser460Thr) c.106T>A c.922+1849T>A (n.922+1849T>A) c.1273T>A (p.Ser425Thr)
19	g.41424546T>C	CA406015540	BCKDHA	c.1276T>C (p.Ser426Pro) c.1285T>C (p.Ser429Pro) c.1378T>C (p.Ser460Pro) c.106T>C c.922+1849T>C (n.922+1849T>C) c.1273T>C (p.Ser425Pro)
19	g.41424546T>G	CA406015542	BCKDHA	c.1276T>G (p.Ser426Ala) c.1285T>G (p.Ser429Ala) c.1378T>G (p.Ser460Ala) c.106T>G c.922+1849T>G (n.922+1849T>G) c.1273T>G (p.Ser425Ala)	gnomAD v4
19	g.41424547C>A	CA406015545	BCKDHA	c.1277C>A (p.Ser426Tyr) c.1286C>A (p.Ser429Tyr) c.1379C>A (p.Ser460Tyr) c.107C>A c.922+1850C>A (n.922+1850C>A) c.1274C>A (p.Ser425Tyr)
19	g.41424547C=	CA2336460069	BCKDHA	c.1277C= (p.Ser426=) c.1286C= (p.Ser429=) c.1379C= (p.Ser460=) c.107C= c.922+1850C= (n.922+1850C=) c.1274C= (p.Ser425=)
19	g.41424547C>G	CA406015543	BCKDHA	c.1277C>G (p.Ser426Cys) c.1286C>G (p.Ser429Cys) c.1379C>G (p.Ser460Cys) c.107C>G c.922+1850C>G (n.922+1850C>G) c.1274C>G (p.Ser425Cys)
19	g.41424547C>T	CA248006	BCKDHA	c.1277C>T (p.Ser426Phe) c.1286C>T (p.Ser429Phe) c.1379C>T (p.Ser460Phe) c.107C>T c.922+1850C>T (n.922+1850C>T) c.1274C>T (p.Ser425Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424548T>A	CA507560705	BCKDHA	c.1278T>A (p.Ser426=) c.1287T>A (p.Ser429=) c.1380T>A (p.Ser460=) c.108T>A c.922+1851T>A (n.922+1851T>A) c.1275T>A (p.Ser425=)	ClinVar dbSNP
19	g.41424548T>C	CA507560708	BCKDHA	c.1278T>C (p.Ser426=) c.1287T>C (p.Ser429=) c.1380T>C (p.Ser460=) c.108T>C c.922+1851T>C (n.922+1851T>C) c.1275T>C (p.Ser425=)
19	g.41424548T>G	CA507560707	BCKDHA	c.1278T>G (p.Ser426=) c.1287T>G (p.Ser429=) c.1380T>G (p.Ser460=) c.108T>G c.922+1851T>G (n.922+1851T>G) c.1275T>G (p.Ser425=)
19	g.41424549C>A	CA406015548	BCKDHA	c.1279C>A (p.Leu427Met) c.1288C>A (p.Leu430Met) c.1381C>A (p.Leu461Met) c.109C>A c.922+1852C>A (n.922+1852C>A) c.1276C>A (p.Leu426Met)
19	g.41424549C>G	CA406015549	BCKDHA	c.1279C>G (p.Leu427Val) c.1288C>G (p.Leu430Val) c.1381C>G (p.Leu461Val) c.109C>G c.922+1852C>G (n.922+1852C>G) c.1276C>G (p.Leu426Val)
19	g.41424549C>T	CA507560709	BCKDHA	c.1279C>T (p.Leu427=) c.1288C>T (p.Leu430=) c.1381C>T (p.Leu461=) c.109C>T c.922+1852C>T (n.922+1852C>T) c.1276C>T (p.Leu426=)
19	g.41424549_41424552delinsCTGG	CA2336460070	BCKDHA	c.1279_1282delinsCTGG (p.Leu427=) c.1288_1291delinsCTGG (p.Leu430=) c.1381_1384delinsCTGG (p.Leu461=) c.109_112delinsCTGG c.922+1852_922+1855delinsCTGG (n.922+1852_922+1855delinsCTGG) c.1276_1279delinsCTGG (p.Leu426=)
19	g.41424550_41424553del	CA913016480	BCKDHA	c.1280_1283del (p.Leu427ProfsTer?) c.1289_1292del (p.Leu430ProfsTer?) c.1382_1385del (p.Leu461ProfsTer?) c.110_113del c.922+1853_922+1856del (n.922+1853_922+1856del) c.1277_1280del (p.Leu426ProfsTer?)
19	g.41424552_41424563del	CA2695228773	BCKDHA	c.1282_1293del (p.Ala428_Leu431del) c.1291_1302del (p.Ala431_Leu434del) c.1384_1395del (p.Ala462_Leu465del) c.112_123del c.922+1855_922+1866del (n.922+1855_922+1866del) c.1279_1290del (p.Ala427_Leu430del)
19	g.41424550T>A	CA406015553	BCKDHA	c.1280T>A (p.Leu427Gln) c.1289T>A (p.Leu430Gln) c.1382T>A (p.Leu461Gln) c.110T>A c.922+1853T>A (n.922+1853T>A) c.1277T>A (p.Leu426Gln)
19	g.41424550T>C	CA406015554	BCKDHA	c.1280T>C (p.Leu427Pro) c.1289T>C (p.Leu430Pro) c.1382T>C (p.Leu461Pro) c.110T>C c.922+1853T>C (n.922+1853T>C) c.1277T>C (p.Leu426Pro)
19	g.41424550T>G	CA406015556	BCKDHA	c.1280T>G (p.Leu427Arg) c.1289T>G (p.Leu430Arg) c.1382T>G (p.Leu461Arg) c.110T>G c.922+1853T>G (n.922+1853T>G) c.1277T>G (p.Leu426Arg)
19	g.41424550_41424552del	CA9461420	BCKDHA	c.1280_1282del (p.Leu427_Ala428delinsPro) c.1289_1291del (p.Leu430_Ala431delinsPro) c.1382_1384del (p.Leu461_Ala462delinsPro) c.110_112del c.922+1853_922+1855del (n.922+1853_922+1855del) c.1277_1279del (p.Leu426_Ala427delinsPro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19	g.41424551G>A	CA507560710	BCKDHA	c.1281G>A (p.Leu427=) c.1290G>A (p.Leu430=) c.1383G>A (p.Leu461=) c.111G>A c.922+1854G>A (n.922+1854G>A) c.1278G>A (p.Leu426=)	gnomAD v4
19	g.41424551G>C	CA507560711	BCKDHA	c.1281G>C (p.Leu427=) c.1290G>C (p.Leu430=) c.1383G>C (p.Leu461=) c.111G>C c.922+1854G>C (n.922+1854G>C) c.1278G>C (p.Leu426=)	ClinVar
19	g.41424551G>T	CA507560712	BCKDHA	c.1281G>T (p.Leu427=) c.1290G>T (p.Leu430=) c.1383G>T (p.Leu461=) c.111G>T c.922+1854G>T (n.922+1854G>T) c.1278G>T (p.Leu426=)
19	g.41424552G>A	CA406015561	BCKDHA	c.1282G>A (p.Ala428Thr) c.1291G>A (p.Ala431Thr) c.1384G>A (p.Ala462Thr) c.112G>A c.922+1855G>A (n.922+1855G>A) c.1279G>A (p.Ala427Thr)	gnomAD v4
19	g.41424552G>C	CA406015565	BCKDHA	c.1282G>C (p.Ala428Pro) c.1291G>C (p.Ala431Pro) c.1384G>C (p.Ala462Pro) c.112G>C c.922+1855G>C (n.922+1855G>C) c.1279G>C (p.Ala427Pro)
19	g.41424552G>T	CA406015563	BCKDHA	c.1282G>T (p.Ala428Ser) c.1291G>T (p.Ala431Ser) c.1384G>T (p.Ala462Ser) c.112G>T c.922+1855G>T (n.922+1855G>T) c.1279G>T (p.Ala427Ser)
19	g.41424552_41424554del	CA2695228774	BCKDHA	c.1282_1284del (p.Ala428del) c.1291_1293del (p.Ala431del) c.1384_1386del (p.Ala462del) c.112_114del c.922+1855_922+1857del (n.922+1855_922+1857del) c.1279_1281del (p.Ala427del)
19	g.41424553C>A	CA406015568	BCKDHA	c.1283C>A (p.Ala428Asp) c.1292C>A (p.Ala431Asp) c.1385C>A (p.Ala462Asp) c.113C>A c.922+1856C>A (n.922+1856C>A) c.1280C>A (p.Ala427Asp)
19	g.41424553C=	CA2336460071	BCKDHA	c.1283C= (p.Ala428=) c.1292C= (p.Ala431=) c.1385C= (p.Ala462=) c.113C= c.922+1856C= (n.922+1856C=) c.1280C= (p.Ala427=)
19	g.41424553C>G	CA406015570	BCKDHA	c.1283C>G (p.Ala428Gly) c.1292C>G (p.Ala431Gly) c.1385C>G (p.Ala462Gly) c.113C>G c.922+1856C>G (n.922+1856C>G) c.1280C>G (p.Ala427Gly)
19	g.41424553C>T	CA406015572	BCKDHA	c.1283C>T (p.Ala428Val) c.1292C>T (p.Ala431Val) c.1385C>T (p.Ala462Val) c.113C>T c.922+1856C>T (n.922+1856C>T) c.1280C>T (p.Ala427Val)	dbSNP gnomAD v4
19	g.41424554C>A	CA507560713	BCKDHA	c.1284C>A (p.Ala428=) c.1293C>A (p.Ala431=) c.1386C>A (p.Ala462=) c.114C>A c.922+1857C>A (n.922+1857C>A) c.1281C>A (p.Ala427=)
19	g.41424554C>G	CA507560714	BCKDHA	c.1284C>G (p.Ala428=) c.1293C>G (p.Ala431=) c.1386C>G (p.Ala462=) c.114C>G c.922+1857C>G (n.922+1857C>G) c.1281C>G (p.Ala427=)
19	g.41424554C>T	CA507560715	BCKDHA	c.1284C>T (p.Ala428=) c.1293C>T (p.Ala431=) c.1386C>T (p.Ala462=) c.114C>T c.922+1857C>T (n.922+1857C>T) c.1281C>T (p.Ala427=)
19	g.41424555C>A	CA406015573	BCKDHA	c.1285C>A (p.Arg429Ser) c.1294C>A (p.Arg432Ser) c.1387C>A (p.Arg463Ser) c.115C>A c.922+1858C>A (n.922+1858C>A) c.1282C>A (p.Arg428Ser)
19	g.41424555C=	CA2336460072	BCKDHA	c.1285C= (p.Arg429=) c.1294C= (p.Arg432=) c.1387C= (p.Arg463=) c.115C= c.922+1858C= (n.922+1858C=) c.1282C= (p.Arg428=)
19	g.41424555C>G	CA406015576	BCKDHA	c.1285C>G (p.Arg429Gly) c.1294C>G (p.Arg432Gly) c.1387C>G (p.Arg463Gly) c.115C>G c.922+1858C>G (n.922+1858C>G) c.1282C>G (p.Arg428Gly)
19	g.41424555C>T	CA9461421	BCKDHA	c.1285C>T (p.Arg429Cys) c.1294C>T (p.Arg432Cys) c.1387C>T (p.Arg463Cys) c.115C>T c.922+1858C>T (n.922+1858C>T) c.1282C>T (p.Arg428Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424556G>A	CA9461422	BCKDHA	c.1286G>A (p.Arg429His) c.1295G>A (p.Arg432His) c.1388G>A (p.Arg463His) c.116G>A c.922+1859G>A (n.922+1859G>A) c.1283G>A (p.Arg428His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424556G>C	CA406015578	BCKDHA	c.1286G>C (p.Arg429Pro) c.1295G>C (p.Arg432Pro) c.1388G>C (p.Arg463Pro) c.116G>C c.922+1859G>C (n.922+1859G>C) c.1283G>C (p.Arg428Pro)	gnomAD v4
19	g.41424556G=	CA2336460073	BCKDHA	c.1286G= (p.Arg429=) c.1295G= (p.Arg432=) c.1388G= (p.Arg463=) c.116G= c.922+1859G= (n.922+1859G=) c.1283G= (p.Arg428=)
19	g.41424556G>T	CA406015580	BCKDHA	c.1286G>T (p.Arg429Leu) c.1295G>T (p.Arg432Leu) c.1388G>T (p.Arg463Leu) c.116G>T c.922+1859G>T (n.922+1859G>T) c.1283G>T (p.Arg428Leu)	gnomAD v4
19	g.41424557C>A	CA507560719	BCKDHA	c.1287C>A (p.Arg429=) c.1296C>A (p.Arg432=) c.1389C>A (p.Arg463=) c.117C>A c.922+1860C>A (n.922+1860C>A) c.1284C>A (p.Arg428=)
19	g.41424557C>G	CA507560718	BCKDHA	c.1287C>G (p.Arg429=) c.1296C>G (p.Arg432=) c.1389C>G (p.Arg463=) c.117C>G c.922+1860C>G (n.922+1860C>G) c.1284C>G (p.Arg428=)
19	g.41424557C>T	CA507560717	BCKDHA	c.1287C>T (p.Arg429=) c.1296C>T (p.Arg432=) c.1389C>T (p.Arg463=) c.117C>T c.922+1860C>T (n.922+1860C>T) c.1284C>T (p.Arg428=)	gnomAD v4
19	g.41424558C>A	CA406015582	BCKDHA	c.1288C>A (p.His430Asn) c.1297C>A (p.His433Asn) c.1390C>A (p.His464Asn) c.118C>A c.922+1861C>A (n.922+1861C>A) c.1285C>A (p.His429Asn)
19	g.41424558C>G	CA406015583	BCKDHA	c.1288C>G (p.His430Asp) c.1297C>G (p.His433Asp) c.1390C>G (p.His464Asp) c.118C>G c.922+1861C>G (n.922+1861C>G) c.1285C>G (p.His429Asp)
19	g.41424558C>T	CA406015584	BCKDHA	c.1288C>T (p.His430Tyr) c.1297C>T (p.His433Tyr) c.1390C>T (p.His464Tyr) c.118C>T c.922+1861C>T (n.922+1861C>T) c.1285C>T (p.His429Tyr)
19	g.41424559A>C	CA406015586	BCKDHA	c.1289A>C (p.His430Pro) c.1298A>C (p.His433Pro) c.1391A>C (p.His464Pro) c.119A>C c.922+1862A>C (n.922+1862A>C) c.1286A>C (p.His429Pro)	ClinVar
19	g.41424559A>G	CA406015588	BCKDHA	c.1289A>G (p.His430Arg) c.1298A>G (p.His433Arg) c.1391A>G (p.His464Arg) c.119A>G c.922+1862A>G (n.922+1862A>G) c.1286A>G (p.His429Arg)
19	g.41424559A>T	CA406015585	BCKDHA	c.1289A>T (p.His430Leu) c.1298A>T (p.His433Leu) c.1391A>T (p.His464Leu) c.119A>T c.922+1862A>T (n.922+1862A>T) c.1286A>T (p.His429Leu)
19	g.41424560C>A	CA406015592	BCKDHA	c.1290C>A (p.His430Gln) c.1299C>A (p.His433Gln) c.1392C>A (p.His464Gln) c.120C>A c.922+1863C>A (n.922+1863C>A) c.1287C>A (p.His429Gln)
19	g.41424560C=	CA2336460074	BCKDHA	c.1290C= (p.His430=) c.1299C= (p.His433=) c.1392C= (p.His464=) c.120C= c.922+1863C= (n.922+1863C=) c.1287C= (p.His429=)
19	g.41424560C>G	CA406015589	BCKDHA	c.1290C>G (p.His430Gln) c.1299C>G (p.His433Gln) c.1392C>G (p.His464Gln) c.120C>G c.922+1863C>G (n.922+1863C>G) c.1287C>G (p.His429Gln)	dbSNP gnomAD v2 gnomAD v4
19	g.41424560C>T	CA507560720	BCKDHA	c.1290C>T (p.His430=) c.1299C>T (p.His433=) c.1392C>T (p.His464=) c.120C>T c.922+1863C>T (n.922+1863C>T) c.1287C>T (p.His429=)	gnomAD v4
19	g.41424561C>A	CA406015595	BCKDHA	c.1291C>A (p.Leu431Met) c.1300C>A (p.Leu434Met) c.1393C>A (p.Leu465Met) c.121C>A c.922+1864C>A (n.922+1864C>A) c.1288C>A (p.Leu430Met)
19	g.41424561C>G	CA406015597	BCKDHA	c.1291C>G (p.Leu431Val) c.1300C>G (p.Leu434Val) c.1393C>G (p.Leu465Val) c.121C>G c.922+1864C>G (n.922+1864C>G) c.1288C>G (p.Leu430Val)
19	g.41424561C>T	CA507560721	BCKDHA	c.1291C>T (p.Leu431=) c.1300C>T (p.Leu434=) c.1393C>T (p.Leu465=) c.121C>T c.922+1864C>T (n.922+1864C>T) c.1288C>T (p.Leu430=)	gnomAD v4
19	g.41424562T>A	CA406015600	BCKDHA	c.1292T>A (p.Leu431Gln) c.1301T>A (p.Leu434Gln) c.1394T>A (p.Leu465Gln) c.122T>A c.922+1865T>A (n.922+1865T>A) c.1289T>A (p.Leu430Gln)
19	g.41424562T>C	CA406015601	BCKDHA	c.1292T>C (p.Leu431Pro) c.1301T>C (p.Leu434Pro) c.1394T>C (p.Leu465Pro) c.122T>C c.922+1865T>C (n.922+1865T>C) c.1289T>C (p.Leu430Pro)
19	g.41424562T>G	CA406015602	BCKDHA	c.1292T>G (p.Leu431Arg) c.1301T>G (p.Leu434Arg) c.1394T>G (p.Leu465Arg) c.122T>G c.922+1865T>G (n.922+1865T>G) c.1289T>G (p.Leu430Arg)
19	g.41424563G>A	CA507560722	BCKDHA	c.1293G>A (p.Leu431=) c.1302G>A (p.Leu434=) c.1395G>A (p.Leu465=) c.123G>A c.922+1866G>A (n.922+1866G>A) c.1290G>A (p.Leu430=)
19	g.41424563G>C	CA507560723	BCKDHA	c.1293G>C (p.Leu431=) c.1302G>C (p.Leu434=) c.1395G>C (p.Leu465=) c.123G>C c.922+1866G>C (n.922+1866G>C) c.1290G>C (p.Leu430=)
19	g.41424563G>T	CA507560724	BCKDHA	c.1293G>T (p.Leu431=) c.1302G>T (p.Leu434=) c.1395G>T (p.Leu465=) c.123G>T c.922+1866G>T (n.922+1866G>T) c.1290G>T (p.Leu430=)
19	g.41424564C>A	CA406015605	BCKDHA	c.1294C>A (p.Gln432Lys) c.1303C>A (p.Gln435Lys) c.1396C>A (p.Gln466Lys) c.124C>A c.922+1867C>A (n.922+1867C>A) c.1291C>A (p.Gln431Lys)
19	g.41424564C>G	CA406015603	BCKDHA	c.1294C>G (p.Gln432Glu) c.1303C>G (p.Gln435Glu) c.1396C>G (p.Gln466Glu) c.124C>G c.922+1867C>G (n.922+1867C>G) c.1291C>G (p.Gln431Glu)
19	g.41424564C>T	CA406015604	BCKDHA	c.1294C>T (p.Gln432Ter) c.1303C>T (p.Gln435Ter) c.1396C>T (p.Gln466Ter) c.124C>T c.922+1867C>T (n.922+1867C>T) c.1291C>T (p.Gln431Ter)
19	g.41424565A>C	CA406015607	BCKDHA	c.1295A>C (p.Gln432Pro) c.1304A>C (p.Gln435Pro) c.1397A>C (p.Gln466Pro) c.125A>C c.922+1868A>C (n.922+1868A>C) c.1292A>C (p.Gln431Pro)
19	g.41424565A>G	CA406015608	BCKDHA	c.1295A>G (p.Gln432Arg) c.1304A>G (p.Gln435Arg) c.1397A>G (p.Gln466Arg) c.125A>G c.922+1868A>G (n.922+1868A>G) c.1292A>G (p.Gln431Arg)
19	g.41424565A>T	CA406015609	BCKDHA	c.1295A>T (p.Gln432Leu) c.1304A>T (p.Gln435Leu) c.1397A>T (p.Gln466Leu) c.125A>T c.922+1868A>T (n.922+1868A>T) c.1292A>T (p.Gln431Leu)
19	g.41424566G>A	CA507560726	BCKDHA	c.1296G>A (p.Gln432=) c.1305G>A (p.Gln435=) c.1398G>A (p.Gln466=) c.126G>A c.922+1869G>A (n.922+1869G>A) c.1293G>A (p.Gln431=)
19	g.41424566G>C	CA406015611	BCKDHA	c.1296G>C (p.Gln432His) c.1305G>C (p.Gln435His) c.1398G>C (p.Gln466His) c.126G>C c.922+1869G>C (n.922+1869G>C) c.1293G>C (p.Gln431His)	ClinVar gnomAD v4
19	g.41424566G>T	CA406015613	BCKDHA	c.1296G>T (p.Gln432His) c.1305G>T (p.Gln435His) c.1398G>T (p.Gln466His) c.126G>T c.922+1869G>T (n.922+1869G>T) c.1293G>T (p.Gln431His)
19	g.41424567A>C	CA406015617	BCKDHA	c.1297A>C (p.Thr433Pro) c.1306A>C (p.Thr436Pro) c.1399A>C (p.Thr467Pro) c.127A>C c.922+1870A>C (n.922+1870A>C) c.1294A>C (p.Thr432Pro)
19	g.41424567A>G	CA406015615	BCKDHA	c.1297A>G (p.Thr433Ala) c.1306A>G (p.Thr436Ala) c.1399A>G (p.Thr467Ala) c.127A>G c.922+1870A>G (n.922+1870A>G) c.1294A>G (p.Thr432Ala)
19	g.41424567A>T	CA406015616	BCKDHA	c.1297A>T (p.Thr433Ser) c.1306A>T (p.Thr436Ser) c.1399A>T (p.Thr467Ser) c.127A>T c.922+1870A>T (n.922+1870A>T) c.1294A>T (p.Thr432Ser)
19	g.41424568C>A	CA406015618	BCKDHA	c.1298C>A (p.Thr433Asn) c.1307C>A (p.Thr436Asn) c.1400C>A (p.Thr467Asn) c.128C>A c.922+1871C>A (n.922+1871C>A) c.1295C>A (p.Thr432Asn)
19	g.41424568C>G	CA406015621	BCKDHA	c.1298C>G (p.Thr433Ser) c.1307C>G (p.Thr436Ser) c.1400C>G (p.Thr467Ser) c.128C>G c.922+1871C>G (n.922+1871C>G) c.1295C>G (p.Thr432Ser)
19	g.41424568C>T	CA406015623	BCKDHA	c.1298C>T (p.Thr433Ile) c.1307C>T (p.Thr436Ile) c.1400C>T (p.Thr467Ile) c.128C>T c.922+1871C>T (n.922+1871C>T) c.1295C>T (p.Thr432Ile)	gnomAD v4
19	g.41424569C>A	CA507560728	BCKDHA	c.1299C>A (p.Thr433=) c.1308C>A (p.Thr436=) c.1401C>A (p.Thr467=) c.129C>A c.922+1872C>A (n.922+1872C>A) c.1296C>A (p.Thr432=)
19	g.41424569C>G	CA507560729	BCKDHA	c.1299C>G (p.Thr433=) c.1308C>G (p.Thr436=) c.1401C>G (p.Thr467=) c.129C>G c.922+1872C>G (n.922+1872C>G) c.1296C>G (p.Thr432=)
19	g.41424569C>T	CA507560730	BCKDHA	c.1299C>T (p.Thr433=) c.1308C>T (p.Thr436=) c.1401C>T (p.Thr467=) c.129C>T c.922+1872C>T (n.922+1872C>T) c.1296C>T (p.Thr432=)
19	g.41424570T>A	CA406015624	BCKDHA	c.1300T>A (p.Tyr434Asn) c.1309T>A (p.Tyr437Asn) c.1402T>A (p.Tyr468Asn) c.130T>A c.922+1873T>A (n.922+1873T>A) c.1297T>A (p.Tyr433Asn)
19	g.41424570T>C	CA406015625	BCKDHA	c.1300T>C (p.Tyr434His) c.1309T>C (p.Tyr437His) c.1402T>C (p.Tyr468His) c.130T>C c.922+1873T>C (n.922+1873T>C) c.1297T>C (p.Tyr433His)
19	g.41424570T>G	CA406015626	BCKDHA	c.1300T>G (p.Tyr434Asp) c.1309T>G (p.Tyr437Asp) c.1402T>G (p.Tyr468Asp) c.130T>G c.922+1873T>G (n.922+1873T>G) c.1297T>G (p.Tyr433Asp)
19	g.41424571A>C	CA406015629	BCKDHA	c.1301A>C (p.Tyr434Ser) c.1310A>C (p.Tyr437Ser) c.1403A>C (p.Tyr468Ser) c.131A>C c.922+1874A>C (n.922+1874A>C) c.1298A>C (p.Tyr433Ser)
19	g.41424571A>G	CA406015630	BCKDHA	c.1301A>G (p.Tyr434Cys) c.1310A>G (p.Tyr437Cys) c.1403A>G (p.Tyr468Cys) c.131A>G c.922+1874A>G (n.922+1874A>G) c.1298A>G (p.Tyr433Cys)
19	g.41424571A>T	CA406015631	BCKDHA	c.1301A>T (p.Tyr434Phe) c.1310A>T (p.Tyr437Phe) c.1403A>T (p.Tyr468Phe) c.131A>T c.922+1874A>T (n.922+1874A>T) c.1298A>T (p.Tyr433Phe)
19	g.41424572C>A	CA221184	BCKDHA	c.1302C>A (p.Tyr434Ter) c.1311C>A (p.Tyr437Ter) c.1404C>A (p.Tyr468Ter) c.132C>A c.922+1875C>A (n.922+1875C>A) c.1299C>A (p.Tyr433Ter)	ClinVar dbSNP
19	g.41424572C=	CA2336460075	BCKDHA	c.1302C= (p.Tyr434=) c.1311C= (p.Tyr437=) c.1404C= (p.Tyr468=) c.132C= c.922+1875C= (n.922+1875C=) c.1299C= (p.Tyr433=)
19	g.41424572C>G	CA406015634	BCKDHA	c.1302C>G (p.Tyr434Ter) c.1311C>G (p.Tyr437Ter) c.1404C>G (p.Tyr468Ter) c.132C>G c.922+1875C>G (n.922+1875C>G) c.1299C>G (p.Tyr433Ter)
19	g.41424572C>T	CA9461423	BCKDHA	c.1302C>T (p.Tyr434=) c.1311C>T (p.Tyr437=) c.1404C>T (p.Tyr468=) c.132C>T c.922+1875C>T (n.922+1875C>T) c.1299C>T (p.Tyr433=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424573G>A	CA308528132	BCKDHA	c.1303G>A (p.Gly435Arg) c.1312G>A (p.Gly438Arg) c.1405G>A (p.Gly469Arg) c.133G>A c.922+1876G>A (n.922+1876G>A) c.1300G>A (p.Gly434Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424573G>C	CA9461424	BCKDHA	c.1303G>C (p.Gly435Arg) c.1312G>C (p.Gly438Arg) c.1405G>C (p.Gly469Arg) c.133G>C c.922+1876G>C (n.922+1876G>C) c.1300G>C (p.Gly434Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424573G=	CA2336460076	BCKDHA	c.1303G= (p.Gly435=) c.1312G= (p.Gly438=) c.1405G= (p.Gly469=) c.133G= c.922+1876G= (n.922+1876G=) c.1300G= (p.Gly434=)
19	g.41424573G>T	CA406015638	BCKDHA	c.1303G>T (p.Gly435Trp) c.1312G>T (p.Gly438Trp) c.1405G>T (p.Gly469Trp) c.133G>T c.922+1876G>T (n.922+1876G>T) c.1300G>T (p.Gly434Trp)
19	g.41424574G>A	CA406015640	BCKDHA	c.1304G>A (p.Gly435Glu) c.1313G>A (p.Gly438Glu) c.1406G>A (p.Gly469Glu) c.134G>A c.922+1877G>A (n.922+1877G>A) c.1301G>A (p.Gly434Glu)
19	g.41424574G>C	CA406015643	BCKDHA	c.1304G>C (p.Gly435Ala) c.1313G>C (p.Gly438Ala) c.1406G>C (p.Gly469Ala) c.134G>C c.922+1877G>C (n.922+1877G>C) c.1301G>C (p.Gly434Ala)
19	g.41424574G>T	CA406015644	BCKDHA	c.1304G>T (p.Gly435Val) c.1313G>T (p.Gly438Val) c.1406G>T (p.Gly469Val) c.134G>T c.922+1877G>T (n.922+1877G>T) c.1301G>T (p.Gly434Val)
19	g.41424575G>A	CA507560732	BCKDHA	c.1305G>A (p.Gly435=) c.1314G>A (p.Gly438=) c.1407G>A (p.Gly469=) c.135G>A c.922+1878G>A (n.922+1878G>A) c.1302G>A (p.Gly434=)
19	g.41424575G>C	CA507560733	BCKDHA	c.1305G>C (p.Gly435=) c.1314G>C (p.Gly438=) c.1407G>C (p.Gly469=) c.135G>C c.922+1878G>C (n.922+1878G>C) c.1302G>C (p.Gly434=)
19	g.41424575G>T	CA507560734	BCKDHA	c.1305G>T (p.Gly435=) c.1314G>T (p.Gly438=) c.1407G>T (p.Gly469=) c.135G>T c.922+1878G>T (n.922+1878G>T) c.1302G>T (p.Gly434=)
19	g.41424576G>A	CA406015645	BCKDHA	c.1306G>A (p.Glu436Lys) c.1315G>A (p.Glu439Lys) c.1408G>A (p.Glu470Lys) c.136G>A c.922+1879G>A (n.922+1879G>A) c.1303G>A (p.Glu435Lys)	dbSNP gnomAD v3 gnomAD v4 COSMIC
19	g.41424576G>C	CA406015646	BCKDHA	c.1306G>C (p.Glu436Gln) c.1315G>C (p.Glu439Gln) c.1408G>C (p.Glu470Gln) c.136G>C c.922+1879G>C (n.922+1879G>C) c.1303G>C (p.Glu435Gln)
19	g.41424576G=	CA2336460077	BCKDHA	c.1306G= (p.Glu436=) c.1315G= (p.Glu439=) c.1408G= (p.Glu470=) c.136G= c.922+1879G= (n.922+1879G=) c.1303G= (p.Glu435=)
19	g.41424576G>T	CA406015648	BCKDHA	c.1306G>T (p.Glu436Ter) c.1315G>T (p.Glu439Ter) c.1408G>T (p.Glu470Ter) c.136G>T c.922+1879G>T (n.922+1879G>T) c.1303G>T (p.Glu435Ter)	ClinVar dbSNP
19	g.41424577A>C	CA406015650	BCKDHA	c.1307A>C (p.Glu436Ala) c.1316A>C (p.Glu439Ala) c.1409A>C (p.Glu470Ala) c.137A>C c.922+1880A>C (n.922+1880A>C) c.1304A>C (p.Glu435Ala)
19	g.41424577A>G	CA406015653	BCKDHA	c.1307A>G (p.Glu436Gly) c.1316A>G (p.Glu439Gly) c.1409A>G (p.Glu470Gly) c.137A>G c.922+1880A>G (n.922+1880A>G) c.1304A>G (p.Glu435Gly)
19	g.41424577A>T	CA406015656	BCKDHA	c.1307A>T (p.Glu436Val) c.1316A>T (p.Glu439Val) c.1409A>T (p.Glu470Val) c.137A>T c.922+1880A>T (n.922+1880A>T) c.1304A>T (p.Glu435Val)
19	g.41424578G>A	CA507560735	BCKDHA	c.1308G>A (p.Glu436=) c.1317G>A (p.Glu439=) c.1410G>A (p.Glu470=) c.138G>A c.922+1881G>A (n.922+1881G>A) c.1305G>A (p.Glu435=)	ClinVar dbSNP gnomAD v4
19	g.41424578G>C	CA406015659	BCKDHA	c.1308G>C (p.Glu436Asp) c.1317G>C (p.Glu439Asp) c.1410G>C (p.Glu470Asp) c.138G>C c.922+1881G>C (n.922+1881G>C) c.1305G>C (p.Glu435Asp)
19	g.41424578G=	CA2336460078	BCKDHA	c.1308G= (p.Glu436=) c.1317G= (p.Glu439=) c.1410G= (p.Glu470=) c.138G= c.922+1881G= (n.922+1881G=) c.1305G= (p.Glu435=)
19	g.41424578G>T	CA9461425	BCKDHA	c.1308G>T (p.Glu436Asp) c.1317G>T (p.Glu439Asp) c.1410G>T (p.Glu470Asp) c.138G>T c.922+1881G>T (n.922+1881G>T) c.1305G>T (p.Glu435Asp)	dbSNP ExAC gnomAD v2
19	g.41424578_41424580delinsGCA	CA2336460080	BCKDHA	c.1308_1310delinsGCA (p.Glu436=) c.1317_1319delinsGCA (p.Glu439=) c.1410_1412delinsGCA (p.Glu470=) c.138_140delinsGCA c.922+1881_922+1883delinsGCA (n.922+1881_922+1883delinsGCA) c.1305_1307delinsGCA (p.Glu435=)
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.41424579C>A	CA406015673	BCKDHA	c.1309C>A (p.His437Asn) c.1318C>A (p.His440Asn) c.1411C>A (p.His471Asn) c.139C>A c.922+1882C>A (n.922+1882C>A) c.1306C>A (p.His436Asn)
19	g.41424579C>G	CA406015671	BCKDHA	c.1309C>G (p.His437Asp) c.1318C>G (p.His440Asp) c.1411C>G (p.His471Asp) c.139C>G c.922+1882C>G (n.922+1882C>G) c.1306C>G (p.His436Asp)
19	g.41424579C>T	CA406015666	BCKDHA	c.1309C>T (p.His437Tyr) c.1318C>T (p.His440Tyr) c.1411C>T (p.His471Tyr) c.139C>T c.922+1882C>T (n.922+1882C>T) c.1306C>T (p.His436Tyr)
19	g.41424580_41424581del	CA221186	BCKDHA	c.1310_1311del (p.His437LeufsTer8) c.1319_1320del (p.His440LeufsTer8) c.1412_1413del (p.His471LeufsTer8) c.140_141del c.922+1883_922+1884del (n.922+1883_922+1884del) c.1307_1308del (p.His436LeufsTer8)	ClinVar dbSNP gnomAD v2
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.41424580A=	CA2336460081	BCKDHA	c.1310A= (p.His437=) c.1319A= (p.His440=) c.1412A= (p.His471=) c.140A= c.922+1883A= (n.922+1883A=) c.1307A= (p.His436=)
19	g.41424580A>C	CA406015676	BCKDHA	c.1310A>C (p.His437Pro) c.1319A>C (p.His440Pro) c.1412A>C (p.His471Pro) c.140A>C c.922+1883A>C (n.922+1883A>C) c.1307A>C (p.His436Pro)
19	g.41424580A>G	CA9461426	BCKDHA	c.1310A>G (p.His437Arg) c.1319A>G (p.His440Arg) c.1412A>G (p.His471Arg) c.140A>G c.922+1883A>G (n.922+1883A>G) c.1307A>G (p.His436Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19	g.41424580A>T	CA406015677	BCKDHA	c.1310A>T (p.His437Leu) c.1319A>T (p.His440Leu) c.1412A>T (p.His471Leu) c.140A>T c.922+1883A>T (n.922+1883A>T) c.1307A>T (p.His436Leu)
19	g.41424581C>A	CA406015679	BCKDHA	c.1311C>A (p.His437Gln) c.1320C>A (p.His440Gln) c.1413C>A (p.His471Gln) c.141C>A c.922+1884C>A (n.922+1884C>A) c.1308C>A (p.His436Gln)
19	g.41424581C=	CA2336460082	BCKDHA	c.1311C= (p.His437=) c.1320C= (p.His440=) c.1413C= (p.His471=) c.141C= c.922+1884C= (n.922+1884C=) c.1308C= (p.His436=)
19	g.41424581C>G	CA406015680	BCKDHA	c.1311C>G (p.His437Gln) c.1320C>G (p.His440Gln) c.1413C>G (p.His471Gln) c.141C>G c.922+1884C>G (n.922+1884C>G) c.1308C>G (p.His436Gln)	dbSNP gnomAD v4
19	g.41424581C>T	CA9461427	BCKDHA	c.1311C>T (p.His437=) c.1320C>T (p.His440=) c.1413C>T (p.His471=) c.141C>T c.922+1884C>T (n.922+1884C>T) c.1308C>T (p.His436=)	ClinVar dbSNP ExAC gnomAD v2
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)

Number of alleles fetched