Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

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Introduction

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare inborn errors of metabolism leading to serious consequences due to inability to convert long-chain fat into energy (1). LC-FAOD nuclear genes encode mitochondrial proteins necessary for energy production. There are 6 enzyme deficiencies associated with LC-FAOD.

Transport of fatty acids into cells and the fatty acid breakdown are necessary for energy production when sugar, or glucose, levels are low. Without this energy supply, people with LC-FAOD may have symptoms that include, but are not limited to muscle pain, muscle weakness, low blood sugar, and fatigue (2).

ACADVL

Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

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CPT1A

Carnitine Palmitoyltransferase I (CPT I) Deficiency

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CPT2

Carnitine Palmitoyltransferase II (CPT II) Deficiency

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HADHA

Long-Chain 3-Hydroxyl-acyl-CoA Dehydrogenase (LCHAD) Deficiency, Trifunctional Protein (TFP) Deficiency

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HADHB

Trifunctional Protein (TFP) Deficiency

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SLC25A20

Carnitine-Acylcarnitine Translocase (CACT) Deficiency

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Stylized figure adapted from Figure 1 from reference 3.

Gene	Disorder(s)
ACADVL	Very long chain Acyl-CoA dehydrogenase (VLCAD) deficiency
CPT1A	Carnitine palmitoyltransferase type I (CPT I) deficiency
CPT2	Carnitine palmitoyltransferase type II (CPT II) deficiency
HADHA	Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency or TFP* deficiency
HADHB	Trifunctional protein deficiency (TFP*) deficiency
SLC25A20	Carnitine-acylcarnitine translocase (CACT) deficiency

Explore the LC-FAOD genotypes

Search by allele to find variants reported together.

Filter genotypes by gene

Allele 1	Allele 2	Times Observed	Phenotype	PMIDs

ACADVL:c.1001T>G (p.Met334Arg)_Pathogenic	ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic	Under 5 times		27209629
ACADVL:c.1009C>T (p.Leu337Phe)_Pathogenic	ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic	Under 5 times		35400565
ACADVL:c.1019G>T (p.Gly340Val)_Uncertain Significance	ACADVL:c.753-27C>T (Intronic)_Uncertain Significance	Under 5 times		27246109
ACADVL:c.1024T>C (p.Phe342Leu)_Pathogenic#	ACADVL:c.1345G>C (p.Glu449Gln)_Uncertain Significance#	Under 5 times
ACADVL:c.103_112dup (p.Arg38Profs*24)_Pathogenic	ACADVL:c.103_112dup (p.Arg38Profs*24)_Pathogenic	Under 5 times		29768383
ACADVL:c.104del (p.Pro35Leufs*26)_Pathogenic	ACADVL:c.104del (p.Pro35Leufs*26)_Pathogenic	11-20 times	Elevated circulating creatine kinase concentration (7), Myalgia (6), Exercise intolerance (5), Hypoglycemia (3), Arrhythmia (2), Cardiac-other (2), Cardiomyopathy (2), Malaise/fatigue Show More >>	17999356, 21333574, 24305961, Show More >>
ACADVL:c.1052C>A (p.Thr351Asn)_Uncertain Significance#	ACADVL:c.1496G>T (p.Gly499Val)_Uncertain Significance HADHA:c.2200A>T (p.Lys734*)_Pathogenic#	Under 5 times
ACADVL:c.1052C>T (p.Thr351Ile)_Uncertain Significance	ACADVL:c.1281G>C (p.Trp427Cys)_Likely Pathogenic	Under 5 times		31031081, 33442025
ACADVL:c.1066A>G (p.Ile356Val)_Likely Pathogenic	ACADVL:c.1504C>G (p.Leu502Val)_Likely Pathogenic	Under 5 times		23867825, 31031081
ACADVL:c.1066A>G (p.Ile356Val)_Likely Pathogenic	ACADVL:c.533T>C (p.Leu178Pro)_Likely Pathogenic	Under 5 times		33123633
ACADVL:c.1066A>G (p.Ile356Val)_Likely Pathogenic	ACADVL:c.63-2A>C (Intronic)_Pathogenic	Under 5 times		27209629
ACADVL:c.1072A>G (p.Lys358Glu)_Likely Pathogenic	ACADVL:c.541dup (p.His181Profs*72)_Pathogenic	Under 5 times		25834949
ACADVL:c.1076C>T (p.Ala359Val)_Likely Pathogenic	ACADVL:c.1076C>T (p.Ala359Val)_Likely Pathogenic	Under 5 times		26385305
ACADVL:c.1076C>T (p.Ala359Val)_Likely Pathogenic	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	Under 5 times		27209629
ACADVL:c.1076dup (p.Val360Glyfs*6)_Pathogenic#	ACADVL:c.1077_1077+1delinsCAC (p.?)_Likely Pathogenic ACADVL:c.1077G>A (p.Ala359=)_Likely Pathogenic#	Under 5 times
ACADVL:c.1077+2T>C (Intronic)_Pathogenic	ACADVL:c.1077+2T>C (Intronic)_Pathogenic	Under 5 times		25338548
ACADVL:c.1077+2T>C (Intronic)_Pathogenic	ACADVL:c.1358G>A (p.Arg453Gln)_Pathogenic	Under 5 times		33986768
ACADVL:c.1077+2T>C (Intronic)_Pathogenic	ACADVL:c.1538C>G (p.Ala513Gly)_Uncertain Significance	Under 5 times		33986768
ACADVL:c.1077G>A (p.Ala359=)_Likely Pathogenic	ACADVL:c.1077G>A (p.Ala359=)_Likely Pathogenic	Under 5 times		27246109
ACADVL:c.1077G>A (p.Ala359=)_Likely Pathogenic	ACADVL:c.683T>C (p.Ile228Thr)_Uncertain Significance	Under 5 times		35281663
ACADVL:c.1096C>T (p.Arg366Cys)_Pathogenic	ACADVL:c.604C>G (p.Leu202Val)_Likely Pathogenic	Under 5 times		32793418
ACADVL:c.1097G>A (p.Arg366His)_Pathogenic	ACADVL:c.1097G>A (p.Arg366His)_Pathogenic	Under 5 times		24263034
ACADVL:c.1097G>A (p.Arg366His)_Pathogenic	ACADVL:c.898A>C (p.Met300Leu)_Likely Pathogenic	Under 5 times		28871440
ACADVL:c.1097G>A (p.Arg366His)_Pathogenic ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic		Under 5 times		28755359
ACADVL:c.1097G>A (p.Arg366His)_Pathogenic ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic	ACADVL:c.1097G>A (p.Arg366His)_Pathogenic ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic	Under 5 times		28755359
ACADVL:c.1102C>T (p.Gln368*)_Pathogenic	ACADVL:c.1077+6T>A (Intronic)_Uncertain Significance	Under 5 times		25652019
ACADVL:c.1103A>C (p.Gln368Pro)_Likely Pathogenic	ACADVL:c.1141_1143del (p.Glu381del)_Pathogenic	Under 5 times		31031081
ACADVL:c.1103A>C (p.Gln368Pro)_Likely Pathogenic	ACADVL:c.1434+14T>A (Intronic)_Uncertain Significance	Under 5 times		31031081
ACADVL:c.1106T>C (p.Phe369Ser)_Uncertain Significance#	ACADVL:c.1389dup (p.Thr464Aspfs*3)_Pathogenic#	Under 5 times
ACADVL:c.1106T>G (p.Phe369Cys)_Uncertain Significance	ACADVL:c.1106T>G (p.Phe369Cys)_Uncertain Significance	Under 5 times		26982752, 32558070
ACADVL:c.1117A>T (p.Ile373Phe)_Likely Pathogenic	ACADVL:c.1153C>T (p.Arg385Trp)_Pathogenic	Under 5 times		16488171, 27246109, 25456746, Show More >>
ACADVL:c.1127T>C (p.Phe376Ser)_Pathogenic	ACADVL:c.1552G>A (p.Gly518Ser)_Uncertain Significance	Under 5 times		31031081
ACADVL:c.1141_1143del (p.Glu381del)_Pathogenic	ACADVL:c.1141_1143del (p.Glu381del)_Pathogenic	Under 5 times		24305961, 26881790
ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	5-10 times	Myalgia (3), Elevated circulating creatine kinase concentration (1), Malaise/fatigue (1), Muscle stiffness (1), Muscle weakness (1)	15210884, 31497477, 35400565
ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	ACADVL:c.1339G>A (p.Gly447Arg)_Likely Pathogenic	Under 5 times		24898617, 21378393, 17999356
ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	ACADVL:c.388_390del (p.Glu130del)_Pathogenic	Under 5 times		8554073
ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	ACADVL:c.388_391del (p.Glu130Profs*86)_Pathogenic	Under 5 times		20060901, 17999356
ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	ACADVL:c.685C>T (p.Arg229*)_Pathogenic	Under 5 times		31372341, 31844625, 29552494
ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic	Under 5 times		35400565
ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	ACADVL:c.997_998insT (p.Ala333Valfs*26)_Pathogenic	Under 5 times		21378393, 17999356
ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	ACADVL:c.? (p.Gly447Arg)_Likely Pathogenic	Under 5 times		31844625, 35400565
ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	ACADVL:c.? (p.Met478Ile)_Uncertain Significance	Under 5 times		35400565
ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	ACADVL:c.? (p.Phe113*)_Pathogenic	Under 5 times		31372341, 31844625, 29552494
ACADVL:c.1146G>C (p.Lys382Asn)_Pathogenic	ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic	Under 5 times		27209629
ACADVL:c.1146G>C (p.Lys382Asn)_Pathogenic	ACADVL:c.343del (p.Glu115Lysfs*2)_Pathogenic	Under 5 times		31031081
ACADVL:c.1153C>T (p.Arg385Trp)_Pathogenic	ACADVL:c.1127T>C (p.Phe376Ser)_Pathogenic	Under 5 times		28755359
ACADVL:c.1153C>T (p.Arg385Trp)_Pathogenic#	ACADVL:c.1434G>A (p.Met478Ile)_Pathogenic#	Under 5 times
ACADVL:c.1153C>T (p.Arg385Trp)_Pathogenic	ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic	Under 5 times		35400565
ACADVL:c.1172A>G (p.Tyr391Cys)_Likely Pathogenic	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	Under 5 times		16950999
ACADVL:c.1173dup (p.Val392Cysfs*3)_Pathogenic	ACADVL:c.1806_1807del (p.Cys603*)_Pathogenic	Under 5 times		27209629
ACADVL:c.1174G>C (p.Val392Leu)_Pathogenic	ACADVL:c.1752-2_1755del (Intronic)_Pathogenic	Under 5 times		28755359, 35281663
ACADVL:c.1182+1G>A (Intronic)_Pathogenic	ACADVL:c.1182+1G>A (Intronic)_Pathogenic	Under 5 times		26602010
ACADVL:c.1182+1G>A (Intronic)_Pathogenic	ACADVL:c.1406G>A (p.Arg469Gln)_Pathogenic	Under 5 times		36109795
ACADVL:c.1182+1G>A (Intronic)_Pathogenic	ACADVL:c.566T>C (p.Ile189Thr)_Likely Pathogenic	Under 5 times		27209629, 34194748
ACADVL:c.1183-15A>G (Intronic)_Uncertain Significance	ACADVL:c.1183-15A>G (Intronic)_Uncertain Significance	Under 5 times		32061778, 9973285
ACADVL:c.1192_1206dup (p.Tyr398_Ala402dup)_Uncertain Significance#	ACADVL:c.1591C>T (p.Arg531Trp)_Pathogenic#	Under 5 times
ACADVL:c.1198G>A (p.Val400Met)_Likely Pathogenic	ACADVL:c.854A>G (p.Glu285Gly)_Likely Pathogenic	Under 5 times		31844625
ACADVL:c.1228G>T (p.Asp410Tyr)_Uncertain Significance	ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	Under 5 times		31893530
ACADVL:c.1238T>C (p.Ile413Thr)_Likely Pathogenic	ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	Under 5 times		35281659
ACADVL:c.1238T>G (p.Ile413Arg)_Likely Pathogenic	ACADVL:c.577G>C (p.Gly193Arg)_Likely Pathogenic	Under 5 times		16950999
ACADVL:c.1240G>A (p.Glu414Lys)_Uncertain Significance#	ACADVL:c.1605+6_1605+7inv (Intronic)_Uncertain Significance#	Under 5 times
ACADVL:c.1241A>C (p.Glu414Ala)_Likely Pathogenic	ACADVL:c.1241A>C (p.Glu414Ala)_Likely Pathogenic	Under 5 times		32518924
ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	Under 5 times		35400565
ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	Under 5 times		11158518, 11914034, 17999356, Show More >>
ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	ACADVL:c.1801del (p.Met601Cysfs*79)_Pathogenic	Under 5 times		11914034, 17999356, 20060901, Show More >>
ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	ACADVL:c.430C>G (p.Leu144Val)_Likely Pathogenic	Under 5 times		30194637
ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	Under 5 times		32669490
ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic	Under 5 times		31844625, 35400565
ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	ACADVL:c.997dup (p.Ala333Glyfs*26)_Pathogenic	Under 5 times		15210884
ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.1246G>T (p.Ala416Ser)_Likely Pathogenic	ACADVL:c.1077+2T>A (Intronic)_Pathogenic	Under 5 times		30194637
ACADVL:c.1268C>T (p.Ser423Leu)_Uncertain Significance	ACADVL:c.1913C>T (p.Ser638Phe)_Uncertain Significance	Under 5 times		27590926
ACADVL:c.1269+1G>A (Intronic)_Pathogenic	ACADVL:c.1269+1G>A (Intronic)_Pathogenic	Under 5 times		25834949, 33742171, 4022672, Show More >>
ACADVL:c.1269+1G>A (Intronic)_Pathogenic HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic		Under 5 times		32793418
ACADVL:c.1269G>A (p.Ser423=)_Uncertain Significance	ACADVL:c.1468G>C (p.Ala490Pro)_Pathogenic	Under 5 times		30194637
ACADVL:c.1280G>A (p.Trp427*)_Pathogenic	ACADVL:c.1280G>A (p.Trp427*)_Pathogenic	Under 5 times		35664874
ACADVL:c.1280G>A (p.Trp427*)_Pathogenic	ACADVL:c.1345G>C (p.Glu449Gln)_Uncertain Significance	Under 5 times		31620161
ACADVL:c.128G>A (p.Gly43Asp)_Conflict	ACADVL:c.49C>T (p.Leu17Phe)_Conflict	Under 5 times		30445591
ACADVL:c.128G>A (p.Gly43Asp)_Conflict ACADVL:c.1405C>T (p.Arg469Trp)_Pathogenic	ACADVL:c.128G>A (p.Gly43Asp)_Conflict ACADVL:c.1405C>T (p.Arg469Trp)_Pathogenic	Under 5 times		9973285
ACADVL:c.1310T>C (p.Met437Thr)_Pathogenic#	ACADVL:c.1820G>C (p.Cys607Ser)_Pathogenic#	Under 5 times
ACADVL:c.1310T>C (p.Met437Thr)_Pathogenic	ACADVL:c.637G>A (p.Ala213Thr)_Pathogenic	Under 5 times		24801231
ACADVL:c.1313G>A (p.Gly438Glu)_Likely Pathogenic	ACADVL:c.1313G>A (p.Gly438Glu)_Likely Pathogenic	Under 5 times		32518924
ACADVL:c.1316G>A (p.Gly439Asp)_Pathogenic	ACADVL:c.1328T>G (p.Met443Arg)_Pathogenic	Under 5 times		23480858, 27209629, 34194748
ACADVL:c.1316G>A (p.Gly439Asp)_Pathogenic	ACADVL:c.491T>G (p.Val164Gly)_Likely Pathogenic	Under 5 times		23169530, 272487
ACADVL:c.1316G>A (p.Gly439Asp)_Pathogenic	ACADVL:c.910G>A (p.Ala304Thr)_Likely Pathogenic	Under 5 times		20060901, 17999356
ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	ACADVL:c.1097G>A (p.Arg366His)_Pathogenic	Under 5 times		16488171, 27246109, 25456746, Show More >>
ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	ACADVL:c.1183-7A>G (Intronic)_Uncertain Significance	Under 5 times		31031081
ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	5-10 times	Elevated circulating creatine kinase concentration (3), Exercise intolerance (2) Show More >>	21333574, 24305961, 30194637, Show More >>
ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	ACADVL:c.1468G>C (p.Ala490Pro)_Pathogenic	Under 5 times		26453363
ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	Under 5 times		34194748
ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic	Under 5 times		26453363, 30194637
ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	ACADVL:c.753-2A>C (Intronic)_Pathogenic	Under 5 times		21378393, 20060901, 17999356
ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	ACADVL:c.877C>T (p.His293Tyr)_Likely Pathogenic	Under 5 times		32463482
ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic ACADVL:c.1804C>A (p.Leu602Ile)_Likely Pathogenic	ACADVL:c.1141_1143del (p.Glu381del)_Pathogenic	Under 5 times		8845838
ACADVL:c.1322G>C (p.Gly441Ala)_Pathogenic	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	Under 5 times		30617651
ACADVL:c.1328T>C (p.Met443Thr)_Likely Pathogenic	ACADVL:c.1532G>A (p.Arg511Gln)_Pathogenic	Under 5 times		25652019
ACADVL:c.1332+2T>A (Intronic)_Pathogenic	ACADVL:c.957G>A (p.Ser319=)_Uncertain Significance	Under 5 times		30194637
ACADVL:c.1332G>A (p.Lys444Lys)_Uncertain Significance	ACADVL:c.1332G>A (p.Lys444Lys)_Uncertain Significance	Under 5 times		24330285
ACADVL:c.1339G>A (p.Gly447Arg)_Likely Pathogenic	ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	Under 5 times		22841441
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.1213G>C (p.Asp405His)_Pathogenic	Under 5 times		10518280, 10518280, 17999356, Show More >>
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.1273G>A (p.Ala425Thr)_Pathogenic	Under 5 times		23700290
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	Under 5 times		9546340, 32558070
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	5-10 times	Cardiac-other (2), Cardiomyopathy (2), Rhabdomyolysis (2), Elevated circulating creatine kinase concentration (1), Show More >>	15210884, 29519241, 30840296, Show More >>
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.1396G>T (p.Asp466Tyr)_Likely Pathogenic	Under 5 times		24801231
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.1586_1590del (p.Leu529Serfs*31)_Pathogenic	Under 5 times		31794763
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.1639G>A (p.Val547Met)_Pathogenic	Under 5 times		32939699
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.1795G>A (p.Glu599Lys)_Uncertain Significance	Under 5 times		25652019
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.215C>T (p.Ser72Phe)_Uncertain Significance	Under 5 times		24801231
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.481G>A (p.Ala161Thr)_Pathogenic	Under 5 times		27246109, 16488171
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.563G>A (p.Gly188Asp)_Likely Pathogenic	Under 5 times		31794763
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.664G>C (p.Gly222Arg)_Pathogenic	Under 5 times		28771436
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic	Under 5 times		31844625, 35400565
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	ACADVL:c.? (p.Phe112Leu)_Likely Pathogenic	Under 5 times		31844625
ACADVL:c.1357C>T (p.Arg453*)_Pathogenic	ACADVL:c.? (p.Met478Ile)_Uncertain Significance	Under 5 times		35400565
ACADVL:c.1358G>A (p.Arg453Gln)_Pathogenic	ACADVL:c.1358G>A (p.Arg453Gln)_Pathogenic	5-10 times	Malaise/fatigue (2), Muscle weakness (2), Difficulty getting up (1), Diminished reflexes (1), Elevated circulating Show More >>	17999356, 20060901, 30194637, Show More >>
ACADVL:c.1358G>A (p.Arg453Gln)_Pathogenic	ACADVL:c.38_49del (p.Gln13_Arg16del)_Likely Pathogenic	Under 5 times		30194637
ACADVL:c.1360G>A (p.Asp454Asn)_Uncertain Significance	ACADVL:c.1375C>T (p.Arg459Trp)_Likely Pathogenic	Under 5 times		25085675
ACADVL:c.1360G>A (p.Asp454Asn)_Uncertain Significance#	ACADVL:c.1406G>A (p.Arg469Gln)_Pathogenic#	Under 5 times
ACADVL:c.1367G>A (p.Arg456His)_Pathogenic	ACADVL:c.1367G>A (p.Arg456His)_Pathogenic	Under 5 times		17206456
ACADVL:c.1367G>A (p.Arg456His)_Pathogenic	ACADVL:c.1678+19_1678+31del (Intronic)_Uncertain Significance	Under 5 times		35281663
ACADVL:c.1367G>A (p.Arg456His)_Pathogenic	ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic	Under 5 times		21378393, 17999356
ACADVL:c.1367G>A (p.Arg456His)_Pathogenic	ACADVL:c.538G>A (p.Ala180Thr)_Pathogenic	Under 5 times		29268767
ACADVL:c.1372T>C (p.Phe458Leu)_Pathogenic	ACADVL:c.1679-6G>A (Intronic)_Pathogenic	Under 5 times		9709714
ACADVL:c.1372T>C (p.Phe458Leu)_Pathogenic	ACADVL:c.753-2A>C (Intronic)_Pathogenic	Under 5 times		10738914
ACADVL:c.1375C>T (p.Arg459Trp)_Likely Pathogenic	ACADVL:c.1375C>T (p.Arg459Trp)_Likely Pathogenic	Under 5 times		27209629
ACADVL:c.1375dup (p.Arg459Profs*4)_Pathogenic	ACADVL:c.1700G>A (p.Arg567Gln)_Pathogenic	Under 5 times		36109795
ACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic	ACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic	Under 5 times		30194637
ACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic	ACADVL:c.1531C>T (p.Arg511Trp)_Pathogenic	Under 5 times		23798014
ACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic	ACADVL:c.1754C>T (p.Ala585Val)_Uncertain Significance	Under 5 times		25214167
ACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic	ACADVL:c.277+1G>A (Intronic)_Pathogenic	Under 5 times		30194637
ACADVL:c.138+2T>C (Intronic)_Pathogenic	ACADVL:c.1366C>T (p.Arg456Cys)_Likely Pathogenic	Under 5 times		35281663
ACADVL:c.1387G>A (p.Gly463Arg)_Likely Pathogenic	ACADVL:c.1684_1685del (p.Gln562Valfs*29)_Pathogenic	Under 5 times		31794763
ACADVL:c.1391C>A (p.Thr464Lys)_Uncertain Significance	ACADVL:c.1391C>A (p.Thr464Lys)_Uncertain Significance	Under 5 times		25085675
ACADVL:c.1405C>T (p.Arg469Trp)_Pathogenic	ACADVL:c.1405C>T (p.Arg469Trp)_Pathogenic	Under 5 times		12208138, 17999356, 9973285
ACADVL:c.1405C>T (p.Arg469Trp)_Pathogenic	ACADVL:c.1468G>C (p.Ala490Pro)_Pathogenic	Under 5 times		30194637
ACADVL:c.1405C>T (p.Arg469Trp)_Pathogenic#	HADHA:c.2131C>A (p.Pro711Thr)_Uncertain Significance#	Under 5 times
ACADVL:c.1406G>A (p.Arg469Gln)_Pathogenic	ACADVL:c.1182+1G>A (Intronic)_Pathogenic	Under 5 times		34194748
ACADVL:c.1406G>A (p.Arg469Gln)_Pathogenic	ACADVL:c.1406G>A (p.Arg469Gln)_Pathogenic	5-10 times	Elevated circulating creatine kinase concentration (5), Myalgia (5), Malaise/fatigue (4), Myoglobinuria (3), Arrhyt Show More >>	17514507, 24305961, 25834949, Show More >>
ACADVL:c.1411T>C (p.Phe471Leu)_Uncertain Significance	ACADVL:c.1411T>C (p.Phe471Leu)_Uncertain Significance	Under 5 times		24305961, 25834949
ACADVL:c.1430G>A (p.Cys477Tyr)_Pathogenic	ACADVL:c.753-2A>C (Intronic)_Pathogenic	Under 5 times		10738914, 2066862, 10738914
ACADVL:c.1434+2T>C (Intronic)_Pathogenic	ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	Under 5 times		30904546
ACADVL:c.1434G>A (p.Met478Ile)_Pathogenic	ACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic	Under 5 times		30904546
ACADVL:c.1444_1448del (p.Lys482Alafs*78)_Pathogenic	ACADVL:c.1511_1516del (p.Glu504_Ala505del)_Pathogenic	Under 5 times		24305961
ACADVL:c.1500_1502del (p.Leu502del)_Pathogenic	ACADVL:c.1500_1502del (p.Leu502del)_Pathogenic	5-10 times	Exercise intolerance (3), Myalgia (3), Myoglobinuria (3), Rhabdomyolysis (3), Abnormality of metabolism/homeostasis (2), Dizziness (1), Elevated circulating creatine kinase concentration (1), Mobilization difficulties (1), Muscle Show More >>	16488171, 27246109, 19327992, Show More >>
ACADVL:c.1502T>C (p.Leu501Pro)_Uncertain Significance	ACADVL:c.1502T>C (p.Leu501Pro)_Uncertain Significance	Under 5 times		29373990
ACADVL:c.1504C>G (p.Leu502Val)_Likely Pathogenic	ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic	Under 5 times		27209629
ACADVL:c.1522C>T (p.Gln508*)_Pathogenic	ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	Under 5 times		31893530
ACADVL:c.1531C>T (p.Arg511Trp)_Pathogenic#	ACADVL:c.1678+3_1678+6del (Intronic)_Likely Pathogenic#	Under 5 times
ACADVL:c.1531C>T (p.Arg511Trp)_Pathogenic#	ACADVL:c.1700G>A (p.Arg567Gln)_Pathogenic#	Under 5 times
ACADVL:c.1531C>T (p.Arg511Trp)_Pathogenic	ACADVL:c.442A>G (p.Ser148Gly)_Likely Pathogenic	Under 5 times		17999356
ACADVL:c.1531C>T (p.Arg511Trp)_Pathogenic	ACADVL:c.621_622+9del (Intronic)_Pathogenic ACADVL:c.622+14del (Intronic)_Uncertain Significance	Under 5 times		35095998
ACADVL:c.1532G>A (p.Arg511Gln)_Pathogenic	ACADVL:c.103_112dup (p.Arg38Profs*24)_Pathogenic	Under 5 times		29519241
ACADVL:c.1541G>A (p.Gly514Glu)_Likely Pathogenic	ACADVL:c.1700G>A (p.Arg567Gln)_Pathogenic	Under 5 times		23480858
ACADVL:c.1557del (p.Ser520Valfs*10)_Pathogenic	ACADVL:c.1557del (p.Ser520Valfs*10)_Pathogenic	Under 5 times		32518924
ACADVL:c.1567G>A (p.Gly523Arg)_Uncertain Significance	ACADVL:c.1820G>C (p.Cys607Ser)_Pathogenic	Under 5 times		28747690
ACADVL:c.1591C>T (p.Arg531Trp)_Pathogenic	ACADVL:c.1269+1G>A (Intronic)_Pathogenic	Under 5 times		21932095
ACADVL:c.1591C>T (p.Arg531Trp)_Pathogenic	ACADVL:c.1678+1G>C (Intronic)_Pathogenic	Under 5 times		35281659
ACADVL:c.1605+3A>G (Intronic)_Uncertain Significance#	ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic#	Under 5 times
ACADVL:c.1606-3_1606-2del (Intronic)_Pathogenic	ACADVL:c.265C>T (p.Pro89Ser)_Pathogenic	Under 5 times		11131350, 11914034, 17999356
ACADVL:c.1612C>T (p.Arg538Trp)_Uncertain Significance#	ACADVL:c.1616C>A (p.Ala539Asp)_Likely Pathogenic#	Under 5 times
ACADVL:c.1617T>C (p.Ala539Ala)_Uncertain Significance	ACADVL:c.1708_1717dup (p.Ile573Argfs*22)_Pathogenic	Under 5 times		27209629
ACADVL:c.1619T>C (p.Leu540Pro)_Pathogenic	ACADVL:c.1707_1715dup (p.Asp570_Ala572dup)_Likely Pathogenic	Under 5 times		34638902, 36078043
ACADVL:c.1619T>C (p.Leu540Pro)_Pathogenic	ACADVL:c.1708_1716dup (p.Asp570_Ala572dup)_Likely Pathogenic	Under 5 times		28871440, 32928639, 34194748
ACADVL:c.1619T>C (p.Leu540Pro)_Pathogenic	ACADVL:c.1708_1717dup (p.Ile573Argfs*22)_Pathogenic	Under 5 times		30445591
ACADVL:c.1639G>A (p.Val547Met)_Pathogenic	ACADVL:c.727C>T (p.Leu243Phe)_Pathogenic	Under 5 times		31844625
ACADVL:c.1666_1668del (p.Lys556del)_Likely Pathogenic	ACADVL:c.829_831del (p.Glu277del)_Pathogenic	Under 5 times		30194637
ACADVL:c.1673T>C (p.Ile558Thr)_Uncertain Significance	ACADVL:c.520G>A (p.Val174Met)_Pathogenic	Under 5 times		32558070, 31191348
ACADVL:c.1678+4A>T (Intronic)_Uncertain Significance#	ACADVL:c.1682_1701del (p.Glu561Alafs24)_Pathogenic ACADVL*:c.1803G>A (p.Met601Ile)_Uncertain Significance#	Under 5 times
ACADVL:c.1678+4A>T (Intronic)_Uncertain Significance#	ACADVL:c.1803G>A (p.Met601Ile)_Uncertain Significance#	Under 5 times
ACADVL:c.1679-6G>A (Intronic)_Pathogenic	ACADVL:c.1679-6G>A (Intronic)_Pathogenic	Under 5 times		27943070, 9973285
ACADVL:c.1679_1680insCAGA (p.Glu561Argfs*2)_Pathogenic	ACADVL:c.1679_1680insCAGA (p.Glu561Argfs*2)_Pathogenic	Under 5 times		8845838
ACADVL:c.1700G>A (p.Arg567Gln)_Pathogenic	ACADVL:c.1700G>A (p.Arg567Gln)_Pathogenic	Under 5 times		30194637, 32518924
ACADVL:c.1700G>A (p.Arg567Gln)_Pathogenic	ACADVL:c.753-6C>A (Intronic)_Uncertain Significance	Under 5 times		23798014
ACADVL:c.1700G>A (p.Arg567Gln)_Pathogenic	ACADVL:c.883C>A (p.Pro295Thr)_Likely Pathogenic	Under 5 times		30194637
ACADVL:c.1708_1717dup (p.Ile573Argfs*22)_Pathogenic	ACADVL:c.1619T>C (p.Leu540Pro)_Pathogenic	Under 5 times		23480858
ACADVL:c.1748C>T (p.Ser583Leu)_Pathogenic	ACADVL:c.1748C>T (p.Ser583Leu)_Pathogenic	Under 5 times		32518924
ACADVL:c.1793A>G (p.His598Arg)_Uncertain Significance	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.1801del (p.Met601Cysfs*79)_Pathogenic	ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	Under 5 times		15210884
ACADVL:c.1807dup (p.Cys603Leufs*2)_Pathogenic	ACADVL:c.1807dup (p.Cys603Leufs*2)_Pathogenic	Under 5 times		27590926
ACADVL:c.1827+1G>A (Intronic)_Pathogenic	ACADVL:c.1367G>A (p.Arg456His)_Pathogenic	Under 5 times		30194637
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	Under 5 times		10077518, 28871440, 32928639
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	ACADVL:c.1400T>C (p.Ile467Thr)_Likely Pathogenic	Under 5 times		27943070
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	ACADVL:c.1541G>A (p.Gly514Glu)_Likely Pathogenic	Under 5 times		30194637
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	ACADVL:c.1699_1700delinsTC (p.Arg567Ser)_Likely Pathogenic	Under 5 times		16183823
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	Under 5 times		19327992, 33123633
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	ACADVL:c.205-8_205-7delinsGC (Intronic)_Likely Pathogenic	Under 5 times		29111448, 33986768
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	ACADVL:c.239G>A (p.Gly80Asp)_Likely Pathogenic	Under 5 times		30194637
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	ACADVL:c.343-1del (Intronic)_Likely Pathogenic	Under 5 times		7479827, 10077518, 7769092, Show More >>
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	ACADVL:c.685C>T (p.Arg229*)_Pathogenic	Under 5 times		17999356
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	Under 5 times		30194637
ACADVL:c.1838G>A (p.Arg613Gln)_Pathogenic	ACADVL:c.1678+4A>T (Intronic)_Uncertain Significance	Under 5 times		30194637
ACADVL:c.1838G>A (p.Arg613Gln)_Pathogenic#	CPT1A:c.1850G>A (p.Arg617Gln)_Uncertain Significance#	Under 5 times
ACADVL:c.1838G>C (p.Arg613Pro)_Likely Pathogenic	ACADVL:c.1838G>C (p.Arg613Pro)_Likely Pathogenic	Under 5 times		16183823
ACADVL:c.1843C>T (p.Arg615*)_Pathogenic	ACADVL:c.1292A>G (p.Asp431Gly)_Likely Pathogenic	Under 5 times		27029698
ACADVL:c.1843C>T (p.Arg615*)_Pathogenic	ACADVL:c.? (p.Gly354Lys)_Uncertain Significance	Under 5 times		11596652
ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic	ACADVL:c.911C>T (p.Ala304Val)_Pathogenic	Under 5 times		21932095
ACADVL:c.1894C>T (p.Arg632Cys)_Uncertain Significance	ACADVL:c.1968A>C (p.656Cysext54)_Uncertain Significance	Under 5 times		27209629
ACADVL:c.190A>T (p.Lys64*)_Pathogenic#	ACADVL:c.1349G>A (p.Arg450His)_Pathogenic#	Under 5 times
ACADVL:c.1933_1934delinsAA (p.Gly645Asn)_Uncertain Significance	ACADVL:c.1037dup (p.Ala347Glyfs*12)_Pathogenic	Under 5 times		16183823
ACADVL:c.194C>T (p.Pro65Leu)_Conflict ACADVL:c.739A>C (p.Lys247Gln)_Likely Pathogenic	ACADVL:c.194C>T (p.Pro65Leu)_Conflict ACADVL:c.739A>C (p.Lys247Gln)_Likely Pathogenic	Under 5 times		17999356, 10790204
ACADVL:c.199A>T (p.Lys67*)_Pathogenic	ACADVL:c.1121A>C (p.His374Pro)_Likely Pathogenic	Under 5 times		30194637, 35281663
ACADVL:c.199A>T (p.Lys67*)_Pathogenic#	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	Under 5 times
ACADVL:c.205-2A>G (Intronic)_Likely Pathogenic#	ACADVL:c.257A>G (p.Gln86Arg)_Uncertain Significance HADHA:c.1925G>T (p.Gly642Val)_Uncertain Significance#	Under 5 times
ACADVL:c.205-8_205-7delinsGC (Intronic)_Likely Pathogenic	ACADVL:c.388_390del (p.Glu130del)_Pathogenic	Under 5 times		30194637
ACADVL:c.227G>A (p.Gly76Glu)_Likely Pathogenic	ACADVL:c.227G>A (p.Gly76Glu)_Likely Pathogenic	Under 5 times		30194637
ACADVL:c.227G>A (p.Gly76Glu)_Likely Pathogenic	ACADVL:c.614T>C (p.Leu205Pro)_Likely Pathogenic	Under 5 times		16950999, 16860141
ACADVL:c.253dup (p.Asp85Glyfs*19)_Pathogenic	ACADVL:c.469A>G (p.Asn157Asp)_Likely Pathogenic	Under 5 times		31358473
ACADVL:c.265C>T (p.Pro89Ser)_Pathogenic	ACADVL:c.1239_1240delGA (p.Ala536Tyrfs*15)_Pathogenic	Under 5 times		25737446, 31844625
ACADVL:c.266C>A (p.Pro89Gln)_Likely Pathogenic	ACADVL:c.? (p.Gly289Arg)_Pathogenic	Under 5 times		35400565
ACADVL:c.272C>A (p.Pro91Gln)_Likely Pathogenic#	ACADVL:c.1177A>G (p.Thr393Ala)_Uncertain Significance#	Under 5 times
ACADVL:c.272C>A (p.Pro91Gln)_Likely Pathogenic	ACADVL:c.577G>C (p.Gly193Arg)_Likely Pathogenic	Under 5 times		16435213, 17999356, 25737446, Show More >>
ACADVL:c.272C>T (p.Pro91Leu)_Likely Pathogenic	ACADVL:c.272C>T (p.Pro91Leu)_Likely Pathogenic	Under 5 times		32558070, 23966064
ACADVL:c.294_297del (p.Gln98Hisfs*18)_Pathogenic	ACADVL:c.1182+1G>A (Intronic)_Pathogenic	Under 5 times		27209629
ACADVL:c.298_299del (p.Gln100Valfs*3)_Pathogenic	ACADVL:c.298C>T (p.Gln100*)_Pathogenic	Under 5 times		24801231
ACADVL:c.305T>C (p.Leu102Pro)_Uncertain Significance	ACADVL:c.878+1G>C (Intronic)_Pathogenic	Under 5 times		35400565
ACADVL:c.307A>T (p.Lys103*)_Pathogenic	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.329C>T (p.Ser110Phe)_Uncertain Significance	ACADVL:c.? (p.Met478Ile)_Uncertain Significance	Under 5 times		35400565
ACADVL:c.332G>A (p.Arg111His)_Uncertain Significance#	ACADVL:c.1673T>C (p.Ile558Thr)_Uncertain Significance#	Under 5 times
ACADVL:c.339C>A (p.Phe113Leu)_Likely Pathogenic	ACADVL:c.623G>A (p.Gly208Glu)_Pathogenic	Under 5 times		30194637
ACADVL:c.343del (p.Glu115Lysfs*2)_Pathogenic	ACADVL:c.1146G>C (p.Lys382Asn)_Pathogenic	Under 5 times		23867825
ACADVL:c.343del (p.Glu115Lysfs*2)_Pathogenic	ACADVL:c.1198G>A (p.Val400Met)_Likely Pathogenic	Under 5 times		34194748
ACADVL:c.343del (p.Glu115Lysfs*2)_Pathogenic	ACADVL:c.1244C>T (p.Ala415Val)_Likely Pathogenic	Under 5 times		28871440, 32928639
ACADVL:c.343del (p.Glu115Lysfs*2)_Pathogenic	ACADVL:c.343del (p.Glu115Lysfs*2)_Pathogenic	Under 5 times		35281659
ACADVL:c.343del (p.Glu115Lysfs*2)_Pathogenic#	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	Under 5 times
ACADVL:c.364A>G (p.Asn122Asp)_Pathogenic	ACADVL:c.1616C>A (p.Ala539Asp)_Likely Pathogenic	Under 5 times		27943070
ACADVL:c.364A>G (p.Asn122Asp)_Pathogenic	ACADVL:c.364A>G (p.Asn122Asp)_Pathogenic	Under 5 times		16115821, 17999356, 20060901, Show More >>
ACADVL:c.378G>T (p.Glu126Asp)_Uncertain Significance#	ACADVL:c.1064T>C (p.Ile355Thr)_Pathogenic#	Under 5 times
ACADVL:c.37C>T (p.Gln13*)_Pathogenic	ACADVL:c.856A>G (p.Arg286Gly)_Likely Pathogenic	Under 5 times		20060901, 17999356
ACADVL:c.388_390del (p.Glu130del)_Pathogenic	ACADVL:c.1621del (p.Glu541Serfs*11)_Pathogenic	Under 5 times		10077518
ACADVL:c.388_390del (p.Glu130del)_Pathogenic	ACADVL:c.1843C>T (p.Arg615*)_Pathogenic	Under 5 times		10431122
ACADVL:c.388_390del (p.Glu130del)_Pathogenic	ACADVL:c.277+2T>G (Intronic)_Pathogenic	Under 5 times		22847164
ACADVL:c.388_390del (p.Glu130del)_Pathogenic	ACADVL:c.829_831del (p.Glu277del)_Pathogenic	Under 5 times		27209629
ACADVL:c.419G>A (p.Gly140Glu)_Pathogenic#	ACADVL:c.1468G>C (p.Ala490Pro)_Pathogenic#	Under 5 times
ACADVL:c.419G>A (p.Gly140Glu)_Pathogenic	ACADVL:c.1800A>C (p.Lys600Asn)_Uncertain Significance	Under 5 times		15210884
ACADVL:c.419G>A (p.Gly140Glu)_Pathogenic	ACADVL:c.1800A>T (p.Lys600Asn)_Uncertain Significance	Under 5 times		35400565
ACADVL:c.425T>C (p.Phe142Ser)_Likely Pathogenic	ACADVL:c.425T>C (p.Phe142Ser)_Likely Pathogenic	Under 5 times		27629047
ACADVL:c.428G>A (p.Gly143Asp)_Likely Pathogenic#	ACADVL:c.655C>A (p.Pro219Thr)_Pathogenic#	Under 5 times
ACADVL:c.439C>T (p.Pro147Ser)_Uncertain Significance	ACADVL:c.956C>A (p.Ser319*)_Pathogenic	Under 5 times		27209629
ACADVL:c.454G>A (p.Gly152Ser)_Likely Pathogenic	ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic	Under 5 times		31844625, 35400565
ACADVL:c.455G>A (p.Gly152Asp)_Likely Pathogenic	ACADVL:c.833_835del (p.Lys278del)_Pathogenic	Under 5 times		19327992
ACADVL:c.481G>A (p.Ala161Thr)_Pathogenic#	ACADVL:c.1153C>T (p.Arg385Trp)_Pathogenic#	Under 5 times
ACADVL:c.481G>A (p.Ala161Thr)_Pathogenic	ACADVL:c.1711G>A (p.Gly571Arg)_Likely Pathogenic	Under 5 times		33123633
ACADVL:c.481G>A (p.Ala161Thr)_Pathogenic	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	Under 5 times		16950999
ACADVL:c.481G>A (p.Ala161Thr)_Pathogenic#	ACADVL:c.902G>A (p.Gly301Asp)_Likely Pathogenic#	Under 5 times
ACADVL:c.481G>A (p.Ala161Thr)_Pathogenic#	CPT1A:c.1685G>C (p.Cys562Ser)_Uncertain Significance ACADVL:c.1908dup (p.Ile637Hisfs*53)_Pathogenic#	Under 5 times
ACADVL:c.491T>G (p.Val164Gly)_Likely Pathogenic#	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	Under 5 times
ACADVL:c.497_498del (p.Ile166Serfs*5)_Pathogenic#	ACADVL:c.652G>A (p.Glu218Lys)_Pathogenic#	Under 5 times
ACADVL:c.505A>G (p.Met169Val)_Uncertain Significance#	ACADVL:c.637G>A (p.Ala213Thr)_Pathogenic ACADVL:c.1370T>C (p.Ile457Thr)_Uncertain Significance#	Under 5 times
ACADVL:c.506T>C (p.Met169Thr)_Uncertain Significance	ACADVL:c.606_609del (p.Pro203Serfs*13)_Pathogenic	Under 5 times		33996489
ACADVL:c.514C>G (p.Leu172Val)_Likely Pathogenic	ACADVL:c.623-18_623-16del (Intronic)_Uncertain Significance	Under 5 times		31844625, 35400565
ACADVL:c.515T>C (p.Leu172Pro)_Likely Pathogenic	ACADVL:c.1332+2T>A (Intronic)_Pathogenic	Under 5 times		30194637
ACADVL:c.515T>C (p.Leu172Pro)_Likely Pathogenic	ACADVL:c.538G>A (p.Ala180Thr)_Pathogenic	Under 5 times		31844625, 35400565
ACADVL:c.515T>C (p.Leu172Pro)_Likely Pathogenic	ACADVL:c.637G>A (p.Ala213Thr)_Pathogenic	Under 5 times		34638902
ACADVL:c.520G>A (p.Val174Met)_Pathogenic	ACADVL:c.1097G>A (p.Arg366His)_Pathogenic ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic	Under 5 times		28755359, 35281663
ACADVL:c.520G>A (p.Val174Met)_Pathogenic	ACADVL:c.1181A>T (p.Glu394Val)_Uncertain Significance	Under 5 times		35342266
ACADVL:c.520G>A (p.Val174Met)_Pathogenic	ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	Under 5 times		18670371
ACADVL:c.520G>A (p.Val174Met)_Pathogenic	ACADVL:c.1825G>A (p.Glu609Lys)_Likely Pathogenic	Under 5 times		30445591, 34638902, 36078043
ACADVL:c.520G>A (p.Val174Met)_Pathogenic	ACADVL:c.520G>A (p.Val174Met)_Pathogenic	Under 5 times		16115821, 17999356, 20060901, Show More >>
ACADVL:c.520G>A (p.Val174Met)_Pathogenic	ACADVL:c.622+1G>T (Intronic)_Pathogenic	Under 5 times		32061778
ACADVL:c.520G>A (p.Val174Met)_Pathogenic	ACADVL:c.833_835del (p.Lys278del)_Pathogenic	Under 5 times		23430950, 26881790, 32463482
ACADVL:c.520G>A (p.Val174Met)_Pathogenic#	ACADVL:c.869G>A (p.Gly290Asp)_Uncertain Significance#	Under 5 times
ACADVL:c.520G>A (p.Val174Met)_Pathogenic#	ACADVL:c.946C>T (p.Arg316Trp)_Pathogenic#	Under 5 times
ACADVL:c.520G>A (p.Val174Met)_Pathogenic#	ACADVL:c.965T>C (p.Val322Ala)_Pathogenic#	Under 5 times
ACADVL:c.535G>T (p.Gly179Trp)_Uncertain Significance	ACADVL:c.1613G>C (p.Arg538Pro)_Likely Pathogenic	Under 5 times		19327992
ACADVL:c.538G>A (p.Ala180Thr)_Pathogenic	ACADVL:c.1367G>A (p.Arg456His)_Pathogenic	Under 5 times		30194637
ACADVL:c.538G>A (p.Ala180Thr)_Pathogenic	ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.538G>A (p.Ala180Thr)_Pathogenic#	ACADVL:c.947G>A (p.Arg316Gln)_Pathogenic#	Under 5 times
ACADVL:c.538G>A (p.Ala180Thr)_Pathogenic#	HADHA:c.2020dup (p.Gln674Profs*11)_Pathogenic#	Under 5 times
ACADVL:c.541C>T (p.His181Tyr)_Likely Pathogenic	ACADVL:c.541C>T (p.His181Tyr)_Likely Pathogenic	Under 5 times		27943070
ACADVL:c.541dup (p.His181Profs*72)_Pathogenic	ACADVL:c.1040C>T (p.Ala347Val)_Uncertain Significance	Under 5 times		32061778
ACADVL:c.541dup (p.His181Profs*72)_Pathogenic	ACADVL:c.1072A>G (p.Lys358Glu)_Likely Pathogenic	Under 5 times		32463482
ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic#	ACADVL:c.1043_1065dup (p.Ile356Trpfs*5)_Pathogenic#	Under 5 times
ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic	ACADVL:c.1153C>T (p.Arg385Trp)_Pathogenic	Under 5 times		32655480
ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic	ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	Under 5 times		35400565
ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic	ACADVL:c.1276G>A (p.Ala426Thr)_Likely Pathogenic	Under 5 times		28771436
ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic	ACADVL:c.753-2A>C (Intronic)_Pathogenic	Under 5 times		21378393, 20060901, 17999356
ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	Under 5 times		31620161
ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic	ACADVL:c.878+1G>C (Intronic)_Pathogenic	Under 5 times		22841441, 31844625, 35400565
ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic	ACADVL:c.881G>A (p.Gly294Glu)_Likely Pathogenic	Under 5 times		17999356, 25737446
ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.563G>A (p.Gly188Asp)_Likely Pathogenic	ACADVL:c.1280G>A (p.Trp427*)_Pathogenic	Under 5 times		31794763
ACADVL:c.566T>C (p.Ile189Thr)_Likely Pathogenic	ACADVL:c.1182+1G>A (Intronic)_Pathogenic	Under 5 times		23480858
ACADVL:c.577G>C (p.Gly193Arg)_Likely Pathogenic	ACADVL:c.577G>C (p.Gly193Arg)_Likely Pathogenic	Under 5 times		24305961
ACADVL:c.602A>G (p.Tyr201Cys)_Pathogenic	ACADVL:c.1468G>C (p.Ala490Pro)_Pathogenic	Under 5 times		17457695, 14517516
ACADVL:c.605T>A (p.Leu202His)_Likely Pathogenic	ACADVL:c.1182+1G>A (Intronic)_Pathogenic	Under 5 times		36109795
ACADVL:c.605T>A (p.Leu202His)_Likely Pathogenic	ACADVL:c.1591C>T (p.Arg531Trp)_Pathogenic	Under 5 times		31031081
ACADVL:c.605T>C (p.Leu202Pro)_Pathogenic	ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	Under 5 times		34194748
ACADVL:c.605T>C (p.Leu202Pro)_Pathogenic	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	Under 5 times		27209629
ACADVL:c.614T>G (p.Leu205Arg)_Likely Pathogenic	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.619T>C (p.Ser207Pro)_Pathogenic	ACADVL:c.1770_1773del (p.Ser590Argfs*89)_Pathogenic	Under 5 times		26927351
ACADVL:c.619T>C (p.Ser207Pro)_Pathogenic	ACADVL:c.878+1G>C (Intronic)_Pathogenic	Under 5 times		26927351
ACADVL:c.622G>A (p.Gly208Arg)_Likely Pathogenic	ACADVL:c.689C>T (p.Thr230Ile)_Uncertain Significance	Under 5 times		27209629
ACADVL:c.628A>C (p.Thr210Pro)_Uncertain Significance#	ACADVL:c.1273G>A (p.Ala425Thr)_Pathogenic HADHA:c.2027G>T (p.Arg676Leu)_Uncertain Significance#	Under 5 times
ACADVL:c.637G>A (p.Ala213Thr)_Pathogenic#	ACADVL:c.1001T>G (p.Met334Arg)_Pathogenic ACADVL:c.1370T>C (p.Ile457Thr)_Uncertain Significance#	Under 5 times
ACADVL:c.637G>A (p.Ala213Thr)_Pathogenic	ACADVL:c.1065_1067del (p.Ile356del)_Likely Pathogenic	Under 5 times		28871440, 32928639
ACADVL:c.637G>A (p.Ala213Thr)_Pathogenic	ACADVL:c.637G>A (p.Ala213Thr)_Pathogenic	Under 5 times		12213615, 9164788, 12213615
ACADVL:c.637G>A (p.Ala213Thr)_Pathogenic#	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	Under 5 times
ACADVL:c.637G>C (p.Ala213Pro)_Likely Pathogenic	ACADVL:c.637G>C (p.Ala213Pro)_Likely Pathogenic	Under 5 times		10077518
ACADVL:c.642_643del (p.Phe214Leufs*38)_Pathogenic	ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	Under 5 times		31620161
ACADVL:c.642_643del (p.Phe214Leufs*38)_Pathogenic	ACADVL:c.642_643del (p.Phe214Leufs*38)_Pathogenic	Under 5 times		34465376
ACADVL:c.643T>C (p.Cys215Arg)_Pathogenic	ACADVL:c.643T>C (p.Cys215Arg)_Pathogenic	Under 5 times		24305961, 25834949, 28755359, Show More >>
ACADVL:c.644_647del (p.Cys215*)_Pathogenic	ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	Under 5 times		15210884
ACADVL:c.644_647del (p.Cys215*)_Pathogenic	ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	Under 5 times		15210884
ACADVL:c.652G>A (p.Glu218Lys)_Pathogenic	ACADVL:c.652G>A (p.Glu218Lys)_Pathogenic	Under 5 times		34184355
ACADVL:c.65C>A (p.Ser22*)_Pathogenic	ACADVL:c.1280G>A (p.Trp427*)_Pathogenic	Under 5 times		24801231
ACADVL:c.65C>A (p.Ser22*)_Pathogenic	ACADVL:c.65C>A (p.Ser22*)_Pathogenic	More than 30 times	Elevated circulating creatine kinase concentration (3), Rhabdomyolysis (3), Cardiomyopathy (1)	10790204, 33549744, 28980192, Show More >>
ACADVL:c.661A>G (p.Ser221Gly)_Uncertain Significance	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	Under 5 times		33986768
ACADVL:c.664G>A (p.Gly222Arg)_Pathogenic	ACADVL:c.1512G>C (p.Glu504Asp)_Likely Pathogenic	Under 5 times		16443431
ACADVL:c.664G>A (p.Gly222Arg)_Pathogenic	ACADVL:c.1512G>T (p.Glu504Asp)_Likely Pathogenic	Under 5 times		24898617, 21378393, 17999356
ACADVL:c.664G>A (p.Gly222Arg)_Pathogenic	ACADVL:c.664G>A (p.Gly222Arg)_Pathogenic	Under 5 times		20060901, 17999356
ACADVL:c.664G>C (p.Gly222Arg)_Pathogenic	ACADVL:c.1605+1G>T (Intronic)_Pathogenic	Under 5 times		24801231
ACADVL:c.664G>C (p.Gly222Arg)_Pathogenic	ACADVL:c.878+3G>T (Intronic)_Uncertain Significance	Under 5 times		31844625
ACADVL:c.664G>C (p.Gly222Arg)_Pathogenic	ACADVL:c.896A>T (p.Lys299Met)_Pathogenic	Under 5 times		25652019
ACADVL:c.685C>T (p.Arg229*)_Pathogenic	ACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic	Under 5 times		31497477, 35400565
ACADVL:c.685C>T (p.Arg229*)_Pathogenic	ACADVL:c.1711G>A (p.Gly571Arg)_Likely Pathogenic	Under 5 times		27246109
ACADVL:c.685C>T (p.Arg229*)_Pathogenic	ACADVL:c.685C>T (p.Arg229*)_Pathogenic	Under 5 times		26404456, 33549744
ACADVL:c.689C>T (p.Thr230Ile)_Uncertain Significance#	ACADVL:c.1923G>C (p.Leu641Phe)_Likely Pathogenic#	Under 5 times
ACADVL:c.689C>T (p.Thr230Ile)_Uncertain Significance	ACADVL:c.428_467del (p.Gly143Alafs*61)_Pathogenic	Under 5 times		26404456, 33549744
ACADVL:c.694G>A (p.Ala232Thr)_Likely Pathogenic	ACADVL:c.1388G>A (p.Gly463Glu)_Likely Pathogenic	Under 5 times		16895136, 28871440, 32928639
ACADVL:c.709T>C (p.Cys237Arg)_Likely Pathogenic	ACADVL:c.1532G>A (p.Arg511Gln)_Pathogenic	Under 5 times		18670371
ACADVL:c.709T>C (p.Cys237Arg)_Likely Pathogenic	ACADVL:c.709T>C (p.Cys237Arg)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.711_712del (p.Cys237Trpfs*15)_Pathogenic#	ACADVL:c.711_712del (p.Cys237Trpfs*15)_Pathogenic#	Under 5 times
ACADVL:c.727C>T (p.Leu243Phe)_Pathogenic	ACADVL:c.1639G>A (p.Val547Met)_Pathogenic	Under 5 times		29552494, 30023301, 31372341, Show More >>
ACADVL:c.739A>G (p.Lys247Glu)_Likely Pathogenic	ACADVL:c.896_898del (p.Lys299del)_Pathogenic	Under 5 times		10077518
ACADVL:c.757G>A (p.Gly253Arg)_Uncertain Significance#	HADHA:c.1970C>T (p.Ala657Val)_Uncertain Significance#	Under 5 times
ACADVL:c.760G>A (p.Gly254Ser)_Pathogenic#	ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic#	Under 5 times
ACADVL:c.760G>A (p.Gly254Ser)_Pathogenic#	CPT1A:c.1163+4C>T (Intronic)_Uncertain Significance ACADVL:c.1754C>A (p.Ala585Asp)_Uncertain Significance#	Under 5 times
ACADVL:c.761G>A (p.Gly254Asp)_Pathogenic	ACADVL:c.761G>A (p.Gly254Asp)_Pathogenic	Under 5 times		28755359, 35281663
ACADVL:c.770del (p.Asp257Alafs*19)_Pathogenic	ACADVL:c.1613G>C (p.Arg538Pro)_Likely Pathogenic	Under 5 times		27209629, 34194748
ACADVL:c.773T>C (p.Ile258Thr)_Pathogenic	ACADVL:c.1358G>A (p.Arg453Gln)_Pathogenic	Under 5 times		33986768
ACADVL:c.773T>C (p.Ile258Thr)_Pathogenic	ACADVL:c.865G>A (p.Gly289Arg)_Pathogenic	Under 5 times		30194637
ACADVL:c.778A>C (p.Thr260Pro)_Likely Pathogenic	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.778_779dup (p.Val261Argfs*16)_Pathogenic	ACADVL:c.778_779dup (p.Val261Argfs*16)_Pathogenic	Under 5 times		27943070
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	Under 5 times		35400565
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	ACADVL:c.1443A>T (p.Gly481=)_Uncertain Significance	Under 5 times		27943070
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	ACADVL:c.1500_1502del (p.Leu502del)_Pathogenic	Under 5 times		19327992
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	ACADVL:c.1700G>A (p.Arg567Gln)_Pathogenic	Under 5 times		29268767
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	ACADVL:c.1733T>C (p.Met578Thr)_Uncertain Significance	Under 5 times		36109795
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	ACADVL:c.1918_1921del (p.Ala640Trpfs*39)_Pathogenic	Under 5 times		20060901, 17999356
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	Under 5 times		16950999, 19327992, 30194637, Show More >>
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	ACADVL:c.842C>A (p.Ala281Asp)_Pathogenic	Under 5 times		19327992, 27943070, 7583594, Show More >>
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic#	ACADVL:c.887_888del (p.Pro296Argfs*17)_Pathogenic#	Under 5 times
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	ACADVL:c.896_898del (p.Lys299del)_Pathogenic	Under 5 times		10077518
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic	Under 5 times		35400565
ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	ACADVL:c.1153C>T (p.Arg385Trp)_Pathogenic	Under 5 times		15210884, 35400565
ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	Under 5 times		15210884, 35400565
ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	ACADVL:c.1309A>G (p.Met437Val)_Likely Pathogenic	Under 5 times		11914034, 17999356, 21378393, Show More >>
ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	Under 5 times		15210884, 35400565
ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	ACADVL:c.1748C>T (p.Ser583Leu)_Pathogenic	Under 5 times		15210884
ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	5-10 times	Myalgia (1), Myopathy (1)	15210884, 17999356, 21378393, Show More >>
ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	ACADVL:c.833_835del (p.Lys278del)_Pathogenic	Under 5 times		16895136
ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic	Under 5 times		35400565
ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.796C>G (p.Pro266Ala)_Uncertain Significance	ACADVL:c.1153C>T (p.Arg385Trp)_Pathogenic	Under 5 times		25655073
ACADVL:c.797_798del (p.Pro266Argfs*31)_Pathogenic#	CPT1A:c.2142G>A (p.Pro714=)_Uncertain Significance#	Under 5 times
ACADVL:c.799_802del (p.Val267Glnfs*8)_Pathogenic	ACADVL:c.799_802del (p.Val267Glnfs*8)_Pathogenic	Under 5 times		10790204, 11914034, 33549744, Show More >>
ACADVL:c.829_831del (p.Glu277del)_Pathogenic#	ACADVL:c.1096C>T (p.Arg366Cys)_Pathogenic#	Under 5 times
ACADVL:c.829_831del (p.Glu277del)_Pathogenic	ACADVL:c.1370T>A (p.Ile457Asn)_Uncertain Significance	Under 5 times		23430948
ACADVL:c.829_831del (p.Glu277del)_Pathogenic	ACADVL:c.829_831del (p.Glu277del)_Pathogenic	Under 5 times		32518924
ACADVL:c.829_831del (p.Glu277del)_Pathogenic#	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	Under 5 times
ACADVL:c.829_831del (p.Glu277del)_Pathogenic	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance	Under 5 times		27209629
ACADVL:c.833_835del (p.Lys278del)_Pathogenic	ACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic	Under 5 times		19327992
ACADVL:c.833_835del (p.Lys278del)_Pathogenic	ACADVL:c.833_835del (p.Lys278del)_Pathogenic	Under 5 times		24305961
ACADVL:c.839C>T (p.Thr280Ile)_Likely Pathogenic#	ACADVL:c.1076C>T (p.Ala359Val)_Likely Pathogenic#	Under 5 times
ACADVL:c.842C>G (p.Ala281Gly)_Likely Pathogenic	ACADVL:c.1246G>A (p.Ala416Thr)_Pathogenic	Under 5 times		35400565
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.104del (p.Pro35Leufs*26)_Pathogenic	Under 5 times		25834949, 27518779, 32061778
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1072A>G (p.Lys358Glu)_Likely Pathogenic	Under 5 times		21932095
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1081G>A (p.Asp361Asn)_Likely Pathogenic	Under 5 times		32061778
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1097G>A (p.Arg366His)_Pathogenic	Under 5 times		27246109
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1141_1143del (p.Glu381del)_Pathogenic	Under 5 times		25834949, 32276429, 33597881, Show More >>
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	ACADVL:c.1146G>C (p.Lys382Asn)_Pathogenic#	Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1153C>T (p.Arg385Trp)_Pathogenic	Under 5 times		23798014
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1177A>G (p.Thr393Ala)_Uncertain Significance	Under 5 times		33123633
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	ACADVL:c.1182+1G>A (Intronic)_Pathogenic#	Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1182+3G>T (Intronic)_Uncertain Significance	Under 5 times		23480858, 27209629, 30445591, Show More >>
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1220G>C (p.Gly407Ala)_Pathogenic	5-10 times		23798014, 28755359, 35281663
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	ACADVL:c.1226C>T (p.Thr409Met)_Pathogenic#	Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1253G>A (p.Ser418Asn)_Likely Pathogenic	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1258A>C (p.Ile420Leu)_Pathogenic	Under 5 times		23480858, 36078043
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1270G>A (p.Glu424Lys)_Uncertain Significance	Under 5 times		23798014
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1273G>A (p.Ala425Thr)_Pathogenic	Under 5 times		27209629
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1316G>A (p.Gly439Asp)_Pathogenic	Under 5 times		31031081
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1316del (p.Gly439Valfs*5)_Pathogenic	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	5-10 times	Elevated circulating creatine kinase concentration (3), Exercise intolerance (1), Fever (1), Hypoglycemia (1), Hypotonia (1), Lethargy (1), Limpness in extremiti Show More >>	16443431, 32558070, 17999356, Show More >>
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1357C>T (p.Arg453*)_Pathogenic	Under 5 times		29268767
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1366C>G (p.Arg456Gly)_Likely Pathogenic	Under 5 times		32061778
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1375dup (p.Arg459Profs*4)_Pathogenic	Under 5 times		36109795
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic	5-10 times		14517516, 21429517, 30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1384G>A (p.Glu462Lys)_Likely Pathogenic	Under 5 times		21378393, 17999356
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1405C>T (p.Arg469Trp)_Pathogenic	Under 5 times		27246109
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	ACADVL:c.1434+14T>C (Intronic)_Uncertain Significance#	Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1444_1448del (p.Lys482Alafs78)_Pathogenic ACADVL*:c.1511_1516del (p.Glu504_Ala505del)_Pathogenic	Under 5 times		25834949, 26881790, 32463482
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	ACADVL:c.1467T>G (p.Ser489Arg)_Uncertain Significance#	Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1468G>C (p.Ala490Pro)_Pathogenic	Under 5 times		10077518
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1500_1502del (p.Leu502del)_Pathogenic	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1505T>C (p.Leu502Pro)_Likely Pathogenic	Under 5 times		27209629
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1532G>C (p.Arg511Pro)_Likely Pathogenic	Under 5 times		27209629
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1699C>T (p.Arg567Trp)_Likely Pathogenic	Under 5 times		35281659
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1700G>A (p.Arg567Gln)_Pathogenic	Under 5 times		32061778
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1748C>T (p.Ser583Leu)_Pathogenic	Under 5 times		23774949
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1814_1815del (p.Thr605Metfs*19)_Pathogenic	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1816T>C (p.Trp606Arg)_Uncertain Significance	Under 5 times		35281659
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	ACADVL:c.1826A>C (p.Glu609Ala)_Uncertain Significance#	Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic	Under 5 times		35281659
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1838G>A (p.Arg613Gln)_Pathogenic	Under 5 times		35281659
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1838G>C (p.Arg613Pro)_Likely Pathogenic	Under 5 times		35281659
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1923G>C (p.Leu641Phe)_Likely Pathogenic	Under 5 times		27246109
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.1924G>A (p.Val642Met)_Uncertain Significance	Under 5 times		31031081
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.253dup (p.Asp85Glyfs*19)_Pathogenic	Under 5 times		27209629
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.260T>C (p.Val87Ala)_Likely Pathogenic	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.277G>A (p.Val93Met)_Likely Pathogenic	Under 5 times		32061778
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.331C>T (p.Arg111Cys)_Uncertain Significance	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.335del (p.Phe112Serfs*5)_Pathogenic	Under 5 times		35281659
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.339C>A (p.Phe113Leu)_Likely Pathogenic	Under 5 times		21932095
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.342+1G>C (Intronic)_Pathogenic	Under 5 times		20060901
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.343-1G>A (Intronic)_Pathogenic	Under 5 times		31983732
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.343del (p.Glu115Lysfs*2)_Pathogenic	Under 5 times		27246109
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.388_390del (p.Glu130del)_Pathogenic	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.476A>G (p.Gln159Arg)_Pathogenic	Under 5 times		25456746, 27246109
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.495G>T (p.Glu165Asp)_Uncertain Significance	Under 5 times		33123633
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.552del (p.Ile184Metfs*33)_Pathogenic	Under 5 times		24503138
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.605T>C (p.Leu202Pro)_Pathogenic	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.623-21A>G (Intronic)_Uncertain Significance	Under 5 times		31031081
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.652G>A (p.Glu218Lys)_Pathogenic	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.685C>T (p.Arg229*)_Pathogenic	Under 5 times		28755359, 35281663
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.694G>A (p.Ala232Thr)_Likely Pathogenic	Under 5 times		23798014
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.751A>G (p.Ser251Gly)_Uncertain Significance	Under 5 times		26937394
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.753-2A>C (Intronic)_Pathogenic	Under 5 times		27246109, 16488171
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.770del (p.Asp257Alafs*19)_Pathogenic	Under 5 times		12682504
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.779C>T (p.Thr260Met)_Pathogenic	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.829_831del (p.Glu277del)_Pathogenic	Under 5 times		30194637, 32061778
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.833_835del (p.Lys278del)_Pathogenic	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	More than 30 times	Elevated circulating creatine kinase concentration (3), Cardiac-other (2), Decreased body weight (2), Hyperbilirubinemia (2), Hypoglycemia (2), Myalgia (2), Autism/behavior (1), Constipation (1), Dehydration (1), Fever (1), Left aortic arch with aberrant right subclavian artery (1), Lethargy (1), Prematurity (1), Pulmonary/respiratory (1), Speech -language delay (1), Vomiting (1)	14517516, 16115821, 16488171, Show More >>
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.865G>A (p.Gly289Arg)_Pathogenic	5-10 times		14517516, 23480858, 27246109, Show More >>
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.879-8T>A (Intronic)_Uncertain Significance	Under 5 times		20668464, 32558070, 19208414
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.883C>A (p.Pro295Thr)_Likely Pathogenic	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	ACADVL:c.889_891del (p.Glu297del)_Uncertain Significance#	Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.896A>T (p.Lys299Met)_Pathogenic	Under 5 times		30194637, 35281659
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	ACADVL:c.938_940del (p.Asp313del)_Uncertain Significance#	Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance#	Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance ACADVL:c.1097G>A (p.Arg366His)_Pathogenic	Under 5 times		27246109
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance ACADVL:c.1591C>T (p.Arg531Trp)_Pathogenic#	Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.957G>A (p.Ser319=)_Uncertain Significance	Under 5 times		30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.963C>A (p.Asn321Lys)_Uncertain Significance	Under 5 times		35281659
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.996del (p.Ala333Profs*20)_Pathogenic	Under 5 times		28755359, 35281663
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	ACADVL:c.? (p.Pro89Hisfs*28)_Pathogenic	Under 5 times		26453363
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	CPT1A:c.2142G>A (p.Pro714=)_Uncertain Significance#	Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance	ACADVL:c.1096C>T (p.Arg366Cys)_Pathogenic	Under 5 times		8845838
ACADVL:c.854A>G (p.Glu285Gly)_Likely Pathogenic	ACADVL:c.1198G>A (p.Val400Met)_Likely Pathogenic	Under 5 times		27538624, 29552494, 31372341, Show More >>
ACADVL:c.856_857del (p.Arg286Glyfs*11)_Pathogenic#	ACADVL:c.1128T>G (p.Phe376Leu)_Uncertain Significance#	Under 5 times
ACADVL:c.864C>T (p.Phe288Phe)_Uncertain Significance	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	Under 5 times		33549744
ACADVL:c.864C>T (p.Phe288Phe)_Uncertain Significance	ACADVL:c.864C>T (p.Phe288Phe)_Uncertain Significance	Under 5 times		30194637
ACADVL:c.864dup (p.Gly289Argfs*9)_Pathogenic	ACADVL:c.887_888del (p.Pro296Argfs*17)_Pathogenic	Under 5 times		30194637
ACADVL:c.865G>A (p.Gly289Arg)_Pathogenic	ACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic	Under 5 times		23798014
ACADVL:c.865G>A (p.Gly289Arg)_Pathogenic	ACADVL:c.1501C>T (p.Leu501Leu)_Uncertain Significance	Under 5 times		27209629
ACADVL:c.865G>A (p.Gly289Arg)_Pathogenic	ACADVL:c.1592G>T (p.Arg531Leu)_Likely Pathogenic	Under 5 times		27209629
ACADVL:c.865G>A (p.Gly289Arg)_Pathogenic	ACADVL:c.552del (p.Ile184Metfs*33)_Pathogenic	Under 5 times		31031081
ACADVL:c.865G>A (p.Gly289Arg)_Pathogenic	ACADVL:c.561A>C (p.Lys187Asn)_Likely Pathogenic	Under 5 times		30194637
ACADVL:c.865G>A (p.Gly289Arg)_Pathogenic	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	Under 5 times		23798014
ACADVL:c.869del (p.Gly290Alafs*63)_Pathogenic	ACADVL:c.1097G>A (p.Arg366His)_Pathogenic	Under 5 times		32558070
ACADVL:c.869del (p.Gly290Alafs*63)_Pathogenic	ACADVL:c.1310T>C (p.Met437Thr)_Pathogenic	Under 5 times		32558070
ACADVL:c.877C>T (p.His293Tyr)_Likely Pathogenic	ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic	Under 5 times		25834949
ACADVL:c.881G>A (p.Gly294Glu)_Likely Pathogenic#	ACADVL:c.1360G>A (p.Asp454Asn)_Uncertain Significance#	Under 5 times
ACADVL:c.881G>A (p.Gly294Glu)_Likely Pathogenic	ACADVL:c.869G>A (p.Gly290Asp)_Uncertain Significance	Under 5 times		12208138
ACADVL:c.887_888del (p.Pro296Argfs*17)_Pathogenic#	ACADVL:c.1182+3G>T (Intronic)_Uncertain Significance#	Under 5 times
ACADVL:c.887_888del (p.Pro296Argfs*17)_Pathogenic	ACADVL:c.1679-6G>A (Intronic)_Pathogenic	Under 5 times		12122118, 27590926, 23480858, Show More >>
ACADVL:c.887_888del (p.Pro296Argfs*17)_Pathogenic	ACADVL:c.887_888del (p.Pro296Argfs*17)_Pathogenic	Under 5 times		31620161, 31737040
ACADVL:c.889_891del (p.Glu297del)_Uncertain Significance	ACADVL:c.1246G>T (p.Ala416Ser)_Likely Pathogenic	Under 5 times		25456746, 27246109
ACADVL:c.896A>T (p.Lys299Met)_Pathogenic	ACADVL:c.1505T>A (p.Leu502Gln)_Likely Pathogenic	Under 5 times		16880373, 17999356
ACADVL:c.896A>T (p.Lys299Met)_Pathogenic	ACADVL:c.1894C>T (p.Arg632Cys)_Uncertain Significance	Under 5 times		35281659
ACADVL:c.896A>T (p.Lys299Met)_Pathogenic	ACADVL:c.298_299del (p.Gln100Valfs*3)_Pathogenic	Under 5 times		31794763
ACADVL:c.896_898del (p.Lys299del)_Pathogenic	ACADVL:c.1147C>G (p.Leu383Val)_Uncertain Significance	Under 5 times		36078043
ACADVL:c.896_898del (p.Lys299del)_Pathogenic	ACADVL:c.520G>A (p.Val174Met)_Pathogenic	Under 5 times		30904546
ACADVL:c.896_898del (p.Lys299del)_Pathogenic	ACADVL:c.623-2A>C (Intronic)_Pathogenic	Under 5 times		10077518
ACADVL:c.896_898del (p.Lys299del)_Pathogenic	ACADVL:c.753-2A>C (Intronic)_Pathogenic	Under 5 times		10738914
ACADVL:c.898A>C (p.Met300Leu)_Likely Pathogenic	ACADVL:c.1097G>A (p.Arg366His)_Pathogenic	Under 5 times		32928639
ACADVL:c.898A>G (p.Met300Val)_Pathogenic	ACADVL:c.1532G>A (p.Arg511Gln)_Pathogenic	Under 5 times		27209629
ACADVL:c.899T>C (p.Met300Thr)_Likely Pathogenic	ACADVL:c.899T>C (p.Met300Thr)_Likely Pathogenic	Under 5 times		27943070
ACADVL:c.900G>A (p.Met300Ile)_Likely Pathogenic	ACADVL:c.900G>A (p.Met300Ile)_Likely Pathogenic	Under 5 times		32558070
ACADVL:c.911C>T (p.Ala304Val)_Pathogenic	ACADVL:c.911C>T (p.Ala304Val)_Pathogenic	Under 5 times		32558070
ACADVL:c.922G>T (p.Ala308Ser)_Likely Pathogenic ACADVL:c.925G>A (p.Glu309Lys)_Pathogenic ACADVL:c.928G>C (p.Val310Leu)_Likely Pathogenic		Under 5 times		20547398, 21932095
ACADVL:c.925G>A (p.Glu309Lys)_Pathogenic	ACADVL:c.925G>A (p.Glu309Lys)_Pathogenic	Under 5 times		34638902
ACADVL:c.932del (p.Phe311Serfs*42)_Pathogenic	ACADVL:c.623-1G>A (Intronic)_Pathogenic	Under 5 times		10077518
ACADVL:c.947G>A (p.Arg316Gln)_Pathogenic#	ACADVL:c.1096C>T (p.Arg366Cys)_Pathogenic#	Under 5 times
ACADVL:c.947G>A (p.Arg316Gln)_Pathogenic#	ACADVL:c.1322G>C (p.Gly441Ala)_Pathogenic#	Under 5 times
ACADVL:c.947G>A (p.Arg316Gln)_Pathogenic#	ACADVL:c.947G>A (p.Arg316Gln)_Pathogenic#	Under 5 times
ACADVL:c.949G>T (p.Val317Leu)_Likely Pathogenic ACADVL:c.1269+1G>A (Intronic)_Pathogenic	ACADVL:c.949G>T (p.Val317Leu)_Likely Pathogenic ACADVL:c.1269+1G>A (Intronic)_Pathogenic	Under 5 times		21531094
ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance	ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance	Under 5 times		9973285
ACADVL:c.953C>T (p.Pro318Leu)_Pathogenic	ACADVL:c.1194C>A (p.Tyr398*)_Pathogenic	Under 5 times		10529389
ACADVL:c.956C>A (p.Ser319*)_Pathogenic#	ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic#	Under 5 times
ACADVL:c.961A>G (p.Asn321Asp)_Uncertain Significance	ACADVL:c.1751+1G>A (Intronic)_Pathogenic	Under 5 times		23700290
ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic	ACADVL:c.1009C>T (p.Leu337Phe)_Pathogenic	Under 5 times		25242572
ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic	ACADVL:c.1639G>A (p.Val547Met)_Pathogenic	Under 5 times		18670371
ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic	ACADVL:c.552C>G (p.Ile184Met)_Uncertain Significance	Under 5 times		29519241
ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic#	CPT1A:c.1518C>T (p.Gly506=)_Uncertain Significance#	Under 5 times
ACADVL:c.997_998insT (p.Ala333Valfs*26)_Pathogenic	ACADVL:c.1770_1773del (p.Ser590Argfs*89)_Pathogenic	Under 5 times		29519241
ACADVL:c.997_998insT (p.Ala333Valfs*26)_Pathogenic	ACADVL:c.454G>A (p.Gly152Ser)_Likely Pathogenic	Under 5 times		22841441
ACADVL:c.997_998insT (p.Ala333Valfs*26)_Pathogenic	ACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic	Under 5 times		17999356, 19589468, 22841441
ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	ACADVL:c.778A>C (p.Thr260Pro)_Likely Pathogenic	Under 5 times		31844625
ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		31844625, 35400565
ACADVL:c.? (p.Gly289Arg)_Pathogenic	ACADVL:c.623G>A (p.Gly208Glu)_Pathogenic	Under 5 times		20547398
ACADVL:c.? (p.Gly289Arg)_Pathogenic	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		35400565
ACADVL:c.? (p.Gly481Asp)_Likely Pathogenic	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic	Under 5 times		16950999
ACADVL:c.? (p.Met478Ile)_Uncertain Significance	ACADVL:c.1532G>A (p.Arg511Gln)_Pathogenic	Under 5 times		35400565
ACADVL:c.? (p.Phe112Leu)_Likely Pathogenic	ACADVL:c.1349G>A (p.Arg450His)_Pathogenic	Under 5 times		35400565
ACADVL:c.? (p.Trp249Arg)_Uncertain Significance	ACADVL:c.? (p.Cys607Ser)_Likely Pathogenic	Under 5 times		35400565
CPT1A:c.100T>C (p.Ser34Pro)_Uncertain Significance	CPT1A:c.100T>C (p.Ser34Pro)_Uncertain Significance	21-30 times		35822099
CPT1A:c.1015C>T (p.Arg339*)_Pathogenic	CPT1A:c.748G>T (p.Val250Leu)_Uncertain Significance	Under 5 times		29519241
CPT1A:c.1027T>G (p.Phe343Val)_Likely Pathogenic	CPT1A:c.1027T>G (p.Phe343Val)_Likely Pathogenic	Under 5 times		15110323
CPT1A:c.1069C>T (p.Arg357Trp)_Likely Pathogenic	CPT1A:c.1069C>T (p.Arg357Trp)_Likely Pathogenic	Under 5 times		11441142
CPT1A:c.1069C>T (p.Arg357Trp)_Likely Pathogenic	CPT1A:c.1451T>C (p.Leu484Pro)_Likely Pathogenic	Under 5 times		3211616, 11441142
CPT1A:c.1079A>G (p.Glu360Gly)_Likely Pathogenic	CPT1A:c.96T>G (p.Tyr32*)_Pathogenic	Under 5 times		12111367
CPT1A:c.1131G>C (p.Glu377Asp)_Likely Pathogenic	CPT1A:c.272T>C (p.Leu91Pro)_Likely Pathogenic	Under 5 times		34869124
CPT1A:c.1163+1G>A (Intronic)_Pathogenic	CPT1A:c.1163+1G>A (Intronic)_Pathogenic	Under 5 times		28748224
CPT1A:c.1163+1G>A (Intronic)_Pathogenic	CPT1A:c.1393G>A (p.Gly465Arg)_Likely Pathogenic	Under 5 times		27066452
CPT1A:c.1184_1186del (p.Arg395del)_Likely Pathogenic	CPT1A:c.1184_1186del (p.Arg395del)_Likely Pathogenic	Under 5 times		11441142
CPT1A:c.1241C>T (p.Ala414Val)_Pathogenic	CPT1A:c.1241C>T (p.Ala414Val)_Pathogenic	Under 5 times		27295194
CPT1A:c.1318G>A (p.Ala440Thr)_Likely Pathogenic	CPT1A:c.1318G>A (p.Ala440Thr)_Likely Pathogenic	Under 5 times		27295194
CPT1A:c.1328T>C (p.Leu443Pro)_Likely Pathogenic	CPT1A:c.1328T>C (p.Leu443Pro)_Likely Pathogenic	Under 5 times		35360862
CPT1A:c.1336G>A (p.Gly446Ser)_Likely Pathogenic	CPT1A:c.734G>A (p.Arg245Gln)_Likely Pathogenic	Under 5 times		30904546
CPT1A:c.1361A>G (p.Asp454Gly)_Likely Pathogenic	CPT1A:c.1361A>G (p.Asp454Gly)_Likely Pathogenic	Under 5 times		9691089
CPT1A:c.1364A>C (p.Lys455Thr)_Pathogenic	CPT1A:c.1364A>C (p.Lys455Thr)_Pathogenic	5-10 times	Hypoglycemia (3), Abnormality of metabolism/homeostasis (2), Liver abnormality ( Show More >>	15970898, 21962599, 21962599
CPT1A:c.1364A>C (p.Lys455Thr)_Pathogenic	CPT1A:c.1493A>C (p.Tyr498Ser)_Likely Pathogenic	Under 5 times		17060594, 21962599
CPT1A:c.1393G>T (p.Gly465Trp)_Likely Pathogenic	CPT1A:c.1393G>T (p.Gly465Trp)_Likely Pathogenic	Under 5 times		15110323
CPT1A:c.1394G>A (p.Gly465Glu)_Likely Pathogenic	CPT1A:c.1394G>A (p.Gly465Glu)_Likely Pathogenic	Under 5 times		32781271
CPT1A:c.1433C>T (p.Ala478Val)_Likely Pathogenic	CPT1A:c.1367C>T (p.Ser456Leu)_Likely Pathogenic	Under 5 times		23700290
CPT1A:c.1436C>T (p.Pro479Leu)_Conflict	CPT1A:c.1436C>T (p.Pro479Leu)_Conflict	11-20 times	Hypoglycemia (4), Liver abnormality (1), Loss of consciousness (1), Muscle cramping (1), Rhabdomyolysis (1), Seizure (1), Vomiting (1)	11441142, 36109795
CPT1A:c.1456_1458+1del (Intronic)_Pathogenic	CPT1A:c.1456_1458+1del (Intronic)_Pathogenic	Under 5 times		30617651
CPT1A:c.1600del (p.Leu534*)_Pathogenic	CPT1A:c.1600del (p.Leu534*)_Pathogenic	Under 5 times		16146704
CPT1A:c.167C>T (p.Pro56Leu)_Likely Pathogenic	CPT1A:c.167C>T (p.Pro56Leu)_Likely Pathogenic	Under 5 times		23430868
CPT1A:c.1737C>A (p.Tyr579*)_Pathogenic	CPT1A:c.1737C>A (p.Tyr579*)_Pathogenic	Under 5 times		16146704
CPT1A:c.1783C>T (p.Arg595Trp)_Likely Pathogenic	CPT1A:c.1783C>T (p.Arg595Trp)_Likely Pathogenic	Under 5 times		23430932
CPT1A:c.1817G>A (p.Arg606His)_Uncertain Significance	CPT1A:c.1817G>A (p.Arg606His)_Uncertain Significance	Under 5 times		35360862
CPT1A:c.1907C>T (p.Ala636Val)_Uncertain Significance	CPT1A:c.1907C>T (p.Ala636Val)_Uncertain Significance	Under 5 times		30617651
CPT1A:c.1910C>A (p.Ser637Tyr)_Likely Pathogenic	CPT1A:c.1910C>A (p.Ser637Tyr)_Likely Pathogenic	Under 5 times		35360862
CPT1A:c.1910C>T (p.Ser637Phe)_Uncertain Significance	CPT1A:c.1065G>A (p.Lys355Lys)_Uncertain Significance	Under 5 times		36246604
CPT1A:c.1964G>A (p.Arg655His)_Uncertain Significance	CPT1A:c.968-11G>A (Intronic)_Uncertain Significance	Under 5 times		31234250
CPT1A:c.205G>A (p.Val69Met)_Uncertain Significance	CPT1A:c.740C>T (p.Pro247Leu)_Likely Pathogenic	Under 5 times		35360862
CPT1A:c.2122A>C (p.Ser708Arg)_Likely Pathogenic	CPT1A:c.2122A>C (p.Ser708Arg)_Likely Pathogenic	Under 5 times		35822099
CPT1A:c.2125G>A (p.Gly709Arg)_Likely Pathogenic	CPT1A:c.1295C>T (p.Pro432Leu)_Likely Pathogenic	Under 5 times		35360862
CPT1A:c.2125G>A (p.Gly709Arg)_Likely Pathogenic	CPT1A:c.1948G>A (p.Gly650Ser)_Uncertain Significance	Under 5 times		35281663
CPT1A:c.2126G>A (p.Gly709Glu)_Likely Pathogenic	CPT1A:c.948del (p.Ile317Serfs*12)_Pathogenic	Under 5 times		14517221, 9048718
CPT1A:c.2129G>A (p.Gly710Glu)_Likely Pathogenic	CPT1A:c.2129G>A (p.Gly710Glu)_Likely Pathogenic	5-10 times	Hypoglycemia (5), Encephalopathy (5), Liver abnormality (4), Seizure (4), Diarrh Show More >>	11350183, 1403388, 11350182, Show More >>
CPT1A:c.2156G>A (p.Gly719Asp)_Likely Pathogenic	CPT1A:c.1339C>T (p.Arg447*)_Pathogenic	Under 5 times		19345525
CPT1A:c.2198A>G (p.Asn733Ser)_Uncertain Significance	CPT1A:c.2198A>G (p.Asn733Ser)_Uncertain Significance	Under 5 times		34023347
CPT1A:c.2201T>C (p.Phe734Ser)_Uncertain Significance	CPT1A:c.1318G>A (p.Ala440Thr)_Likely Pathogenic	Under 5 times		34233743
CPT1A:c.2215A>G (p.Lys739Glu)_Likely Pathogenic	CPT1A:c.619C>T (p.Gln207*)_Pathogenic	Under 5 times		33123633
CPT1A:c.2246G>A (p.Arg749His)_Likely Pathogenic	CPT1A:c.1131G>C (p.Glu377Asp)_Likely Pathogenic	Under 5 times		35360862
CPT1A:c.2246G>A (p.Arg749His)_Likely Pathogenic	CPT1A:c.2246G>A (p.Arg749His)_Likely Pathogenic	Under 5 times		34374989
CPT1A:c.272T>C (p.Leu91Pro)_Likely Pathogenic	CPT1A:c.497G>T (p.Ser166Ile)_Uncertain Significance	Under 5 times		23700290
CPT1A:c.281+1G>A (Intronic)_Pathogenic	CPT1A:c.956G>T (p.Gly319Val)_Uncertain Significance	Under 5 times		35360862
CPT1A:c.298C>T (p.Gln100*)_Pathogenic	CPT1A:c.298C>T (p.Gln100*)_Pathogenic	Under 5 times		12189492
CPT1A:c.319G>A (p.Gly107Ser)_Uncertain Significance#	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	Under 5 times
CPT1A:c.367C>T (p.Arg123Cys)_Likely Pathogenic	CPT1A:c.367C>T (p.Arg123Cys)_Likely Pathogenic	Under 5 times		11441142
CPT1A:c.478C>T (p.Arg160*)_Pathogenic	CPT1A:c.478C>T (p.Arg160*)_Pathogenic	Under 5 times		15110323, 16146704
CPT1A:c.526G>T (p.Val176Phe)_Uncertain Significance	CPT1A:c.1762_1766dup (p.Tyr589*)_Pathogenic	Under 5 times		23430491
CPT1A:c.577del (p.Met194*)_Pathogenic	CPT1A:c.740C>T (p.Pro247Leu)_Likely Pathogenic	Under 5 times		35360862
CPT1A:c.601C>T (p.Arg201Trp)_Uncertain Significance#	CPT1A:c.1497G>A (p.Ala499=)_Uncertain Significance#	Under 5 times
CPT1A:c.627del (p.Phe209Leufs*13)_Pathogenic	CPT1A:c.1006G>A (p.Val336Met)_Uncertain Significance	Under 5 times		28466427
CPT1A:c.733C>T (p.Arg245*)_Pathogenic	CPT1A:c.733C>T (p.Arg245*)_Pathogenic	Under 5 times		28468868
CPT1A:c.734G>A (p.Arg245Gln)_Likely Pathogenic	CPT1A:c.1336G>A (p.Gly446Ser)_Likely Pathogenic	Under 5 times		34869124
CPT1A:c.740C>T (p.Pro247Leu)_Likely Pathogenic	CPT1A:c.1328T>C (p.Leu443Pro)_Likely Pathogenic	Under 5 times		35360862
CPT1A:c.823G>A (p.Ala275Thr)_Conflict CPT1A:c.1241C>T (p.Ala414Val)_Pathogenic	CPT1A:c.1493A>G (p.Tyr498Cys)_Likely Pathogenic	Under 5 times		2768784, 12189492
CPT1A:c.823G>A (p.Ala275Thr)_Conflict CPT1A:c.912C>G (p.Cys304Trp)_Likely Pathogenic	CPT1A:c.823G>A (p.Ala275Thr)_Conflict CPT1A:c.912C>G (p.Cys304Trp)_Likely Pathogenic	Under 5 times		11441142
CPT1A:c.823G>A (p.Ala275Thr)_Conflict CPT1A:c.941C>T (p.Thr314Ile)_Likely Pathogenic	CPT1A:c.823G>A (p.Ala275Thr)_Conflict CPT1A:c.941C>T (p.Thr314Ile)_Likely Pathogenic	Under 5 times		15669684
CPT1A:c.946C>G (p.Arg316Gly)_Uncertain Significance#	CPT1A:c.946C>G (p.Arg316Gly)_Uncertain Significance#	Under 5 times
CPT1A:c.947G>A (p.Arg316Gln)_Likely Pathogenic	CPT1A:c.837_838insT (p.Leu280Serfs*34)_Pathogenic	Under 5 times		23969540, 29519241
CPT1A:c.968-3C>G (Intronic)_Uncertain Significance	CPT1A:c.968-3C>G (Intronic)_Uncertain Significance	Under 5 times		31319225
CPT1A:c.979C>T (p.His327Tyr)_Uncertain Significance	CPT1A:c.1336G>A (p.Gly446Ser)_Likely Pathogenic	Under 5 times		35360862
CPT2:c.1054T>C (p.Phe352Leu)_Likely Pathogenic	CPT2:c.1301T>C (p.Phe434Ser)_Uncertain Significance	Under 5 times		35360862
CPT2:c.1145G>A (p.Arg382Lys)_Uncertain Significance	CPT2:c.1145G>A (p.Arg382Lys)_Uncertain Significance	Under 5 times		10607472
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.1121G>A (p.Trp374*)_Pathogenic	Under 5 times		28801073
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	Under 5 times		17709715, 18363739, 28516040, Show More >>
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.1345C>A (p.Gln449Lys)_Uncertain Significance	Under 5 times		28801073, 30514913
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.1579G>A (p.Glu527Lys)_Uncertain Significance	Under 5 times		28801073
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.1678C>T (p.Arg560Trp)_Likely Pathogenic	Under 5 times		30514913
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.1749C>A (p.Asn583Lys)_Uncertain Significance	Under 5 times		34539730
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.1803del (p.Phe602Leufs*20)_Pathogenic	Under 5 times		23700290
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.1813G>C (p.Val605Leu)_Pathogenic	Under 5 times		18363739
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.1931T>C (p.Leu644Ser)_Likely Pathogenic	Under 5 times		21227726
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.233+2T>A (Intronic)_Pathogenic	Under 5 times		28747690
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.451C>T (p.Arg151Trp)_Pathogenic	Under 5 times		28801073, 32489884
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.481C>T (p.Arg161Trp)_Likely Pathogenic	Under 5 times		28801073, 30514913, 22854105
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.520G>A (p.Glu174Lys)_Pathogenic	Under 5 times		8682496, 28801073, 9600456
CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	CPT2:c.746del (p.Gly249Glufs*16)_Pathogenic	Under 5 times		25919294
CPT2:c.1239_1240del (p.Lys414Thrfs*7)_Pathogenic	CPT2:c.1239_1240del (p.Lys414Thrfs*7)_Pathogenic	Under 5 times		31428121
CPT2:c.1239_1240del (p.Lys414Thrfs7)_Pathogenic CPT2*:c.1342T>C (p.Phe448Leu)_Uncertain Significance#		Under 5 times
CPT2:c.1239_1240del (p.Lys414Thrfs7)_Pathogenic CPT2*:c.1342T>C (p.Phe448Leu)_Uncertain Significance	CPT2:c.1239_1240del (p.Lys414Thrfs7)_Pathogenic CPT2*:c.1342T>C (p.Phe448Leu)_Uncertain Significance	Under 5 times		12673791, 19335026
CPT2:c.1239_1240del (p.Lys414Thrfs7)_Pathogenic CPT2*:c.? (p.Phe448Leu)_Likely Pathogenic	CPT2:c.1239_1240del (p.Lys414Thrfs7)_Pathogenic CPT2*:c.? (p.Phe448Leu)_Likely Pathogenic	Under 5 times		11477613
CPT2:c.1239_1240delGA (p.Lys414Thrfs*7)_Pathogenic	CPT2:c.110_111dup (p.Ser38Alafs*36)_Pathogenic	Under 5 times		12410208
CPT2:c.1239_1240delGA (p.Lys414Thrfs*7)_Pathogenic	CPT2:c.149C>A (p.Pro50His)_Pathogenic	Under 5 times		12410208
CPT2:c.131_133delinsCCC (p.His44_Tyr45delinsProHis)_Uncertain Significance#	CPT2:c.338C>T (p.Ser113Leu)_Pathogenic#	Under 5 times
CPT2:c.136C>T (p.Gln46*)_Pathogenic	CPT2:c.371G>C (p.Arg124Pro)_Pathogenic	Under 5 times		31638495
CPT2:c.1429C>T (p.Arg477Trp)_Uncertain Significance#	ACADVL:c.1684_1685del (p.Gln562Valfs*29)_Pathogenic#	Under 5 times
CPT2:c.1436A>G (p.Tyr479Cys)_Likely Pathogenic	CPT2:c.748_749del (p.Asn250Phefs*5)_Pathogenic	Under 5 times		18925671
CPT2:c.1459G>A (p.Glu487Lys)_Likely Pathogenic	CPT2:c.691C>T (p.Arg231Trp)_Likely Pathogenic	Under 5 times		30455135, 30897730
CPT2:c.1489G>A (p.Gly497Ser)_Pathogenic	CPT2:c.? (p.His369Gln)_Likely Pathogenic	Under 5 times		23911907
CPT2:c.1493G>T (p.Arg498Leu)_Uncertain Significance	CPT2:c.482G>A (p.Arg161Gln)_Likely Pathogenic	Under 5 times		31770251
CPT2:c.149C>A (p.Pro50His)_Pathogenic	CPT2:c.1171A>G (p.Ser391Gly)_Uncertain Significance	Under 5 times		29478820
CPT2:c.149C>A (p.Pro50His)_Pathogenic	CPT2:c.1369A>T (p.Lys457*)_Pathogenic	Under 5 times		33123633, 34449523
CPT2:c.149C>A (p.Pro50His)_Pathogenic	CPT2:c.149C>A (p.Pro50His)_Pathogenic	Under 5 times		12707442, 33123633, 7711730
CPT2:c.149C>A (p.Pro50His)_Pathogenic	CPT2:c.1645+5G>A (Intronic)_Uncertain Significance	Under 5 times		16996287
CPT2:c.149C>A (p.Pro50His)_Pathogenic	CPT2:c.1646G>A (p.Gly549Asp)_Pathogenic	Under 5 times		10398218, 16996287
CPT2:c.149C>A (p.Pro50His)_Pathogenic	CPT2:c.1727A>G (p.Asp576Gly)_Likely Pathogenic	Under 5 times		17936304
CPT2:c.149C>A (p.Pro50His)_Pathogenic	CPT2:c.1822G>C (p.Asp608His)_Likely Pathogenic	Under 5 times		20505667
CPT2:c.149C>A (p.Pro50His)_Pathogenic	CPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_Pathogenic	Under 5 times		10862092
CPT2:c.149C>A (p.Pro50His)_Pathogenic#	CPT2:c.680C>T (p.Pro227Leu)_Pathogenic#	Under 5 times
CPT2:c.1505T>C (p.Ile502Thr)_Pathogenic	CPT2:c.1505T>C (p.Ile502Thr)_Pathogenic	Under 5 times		10398215, 10862092, 30957255
CPT2:c.1505T>C (p.Ile502Thr)_Pathogenic	CPT2:c.1646-1G>T (Intronic)_Pathogenic	Under 5 times		30957255
CPT2:c.1507C>T (p.Arg503Cys)_Pathogenic	CPT2:c.1507C>T (p.Arg503Cys)_Pathogenic	Under 5 times		17372854
CPT2:c.1511C>T (p.Pro504Leu)_Pathogenic	CPT2:c.1511C>T (p.Pro504Leu)_Pathogenic	Under 5 times		18550408, 26537576
CPT2:c.152+5G>A (Intronic)_Pathogenic#	CPT2:c.152+5G>A (Intronic)_Pathogenic#	Under 5 times
CPT2:c.1547T>C (p.Phe516Ser)_Pathogenic	CPT2:c.122_130del (p.Pro41_Met43del)_Uncertain Significance	Under 5 times		35281663
CPT2:c.161T>G (p.Ile54Ser)_Uncertain Significance	CPT2:c.161T>G (p.Ile54Ser)_Uncertain Significance	Under 5 times		35859960
CPT2:c.1711C>A (p.Pro571Thr)_Pathogenic	CPT2:c.1711C>A (p.Pro571Thr)_Pathogenic	Under 5 times		28771436
CPT2:c.1711C>A (p.Pro571Thr)_Pathogenic	CPT2:c.520G>A (p.Glu174Lys)_Pathogenic	Under 5 times		35360862
CPT2:c.1784del (p.Pro595Glnfs*3)_Pathogenic	CPT2:c.122C>T (p.Pro41Leu)_Uncertain Significance	Under 5 times		22899091
CPT2:c.1784del (p.Pro595Glnfs*3)_Pathogenic	CPT2:c.164C>G (p.Pro55Arg)_Likely Pathogenic	Under 5 times		18550408
CPT2:c.1798G>A (p.Gly600Arg)_Pathogenic	CPT2:c.1798G>A (p.Gly600Arg)_Pathogenic	Under 5 times		33123633
CPT2:c.1806del (p.Phe602Leufs*20)_Pathogenic	CPT2:c.1806del (p.Phe602Leufs*20)_Pathogenic	Under 5 times		31599017
CPT2:c.1810C>T (p.Pro604Ser)_Likely Pathogenic	CPT2:c.110_111dup (p.Ser38Alafs*36)_Pathogenic	Under 5 times		16996287
CPT2:c.1813G>C (p.Val605Leu)_Pathogenic	CPT2:c.1678C>T (p.Arg560Trp)_Likely Pathogenic	Under 5 times		30514913
CPT2:c.1813G>C (p.Val605Leu)_Pathogenic	CPT2:c.969_970del (p.Phe323Leufs*6)_Pathogenic	Under 5 times		28649538
CPT2:c.1838G>A (p.Gly613Glu)_Uncertain Significance	CPT2:c.1838G>A (p.Gly613Glu)_Uncertain Significance	Under 5 times		28468868
CPT2:c.1883A>C (p.Tyr628Ser)_Pathogenic	CPT2:c.1883A>C (p.Tyr628Ser)_Pathogenic	Under 5 times		1999498, 8651281, 12673791, Show More >>
CPT2:c.1891C>T (p.Arg631Cys)_Pathogenic	CPT2:c.1223_1224del (p.Ser408Tyrfs*13)_Pathogenic	Under 5 times		15754283, 18363739
CPT2:c.1891C>T (p.Arg631Cys)_Pathogenic	CPT2:c.1891C>T (p.Arg631Cys)_Pathogenic	5-10 times	Myoglobinuria (6), Muscle weakness (3), Myalgia (3), Renal insufficiency/failure (2), Pain (2), Muscle spasm (2), Sweating (1), Severe bra Show More >>	1528846, 17651973, 20810031, Show More >>
CPT2:c.1891C>T (p.Arg631Cys)_Pathogenic	CPT2:c.313C>T (p.Gln105*)_Pathogenic	Under 5 times		28801073
CPT2:c.1891C>T (p.Arg631Cys)_Pathogenic	CPT2:c.370C>T (p.Arg124*)_Pathogenic	Under 5 times		16996287, 18645163
CPT2:c.1925_1937del (p.Lys642Thrfs*6)_Pathogenic	CPT2:c.1925_1937del (p.Lys642Thrfs*6)_Pathogenic	Under 5 times		18550408
CPT2:c.234-1G>A (Intronic)_Pathogenic	CPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_Pathogenic	Under 5 times		12560872
CPT2:c.28_29insAGCAAG (p.Trp10*)_Pathogenic	CPT2:c.28_29insAGCAAG (p.Trp10*)_Pathogenic	Under 5 times		30293990
CPT2:c.298del (p.Val100Leufs*30)_Pathogenic	CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	Under 5 times		36109795
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic#	ACADVL:c.1273G>A (p.Ala425Thr)_Pathogenic ACADVL:c.1358G>A (p.Arg453Gln)_Pathogenic#	Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic#	ACADVL:c.388_390del (p.Glu130del)_Pathogenic#	Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic#	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic#	CPT1A:c.884G>A (p.Arg295His)_Uncertain Significance#	Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.110_111dup (p.Ser38Alafs*36)_Pathogenic	5-10 times	Rhabdomyolysis (2), Myoglobinuria (1), Pain (1)	10862092, 12673791, 12673791, Show More >>
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic#	CPT2:c.1115_1116delinsTT (p.His372Leu)_Uncertain Significance#	Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1117T>C (p.Ser373Pro)_Likely Pathogenic	Under 5 times		30149802
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1130G>A (p.Gly377Asp)_Likely Pathogenic	Under 5 times		30007356, 20505667
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1239G>A (p.Gln413=)_Uncertain Significance	Under 5 times		20810031
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1239_1240del (p.Lys414Thrfs*7)_Pathogenic	11-20 times	Myoglobinuria (4), Myalgia (2), Rhabdomyolysis (2), Amenorrhoeic (1), Hypoglycemia (1), Inability to move legs for several hours (1), Muscle stiffness (1), Renal insufficiency/failure (1)	12362414, 14970749, 16996287, Show More >>
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1239_1240del (p.Lys414Thrfs7)_Pathogenic CPT2*:c.1342T>C (p.Phe448Leu)_Uncertain Significance	11-20 times	Myoglobinuria (4), Elevated circulating creatine kinase concentration (3), Exercise intolerance (3), Pain (3), Rhab Show More >>	10090476, 10398218, 12707442, Show More >>
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1273_1274del (p.Thr425Trpfs*6)_Pathogenic	Under 5 times		16996287
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1333T>C (p.Cys445Arg)_Uncertain Significance	Under 5 times		30881520
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1342T>C (p.Phe448Leu)_Uncertain Significance	Under 5 times		12673791
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1348A>T (p.Arg450*)_Pathogenic	Under 5 times		20810031, 21913903
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1352G>A (p.Gly451Glu)_Uncertain Significance	Under 5 times		23475205
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1369A>T (p.Lys457*)_Pathogenic	Under 5 times		16996287
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1420G>C (p.Ala474Pro)_Uncertain Significance	Under 5 times		29478820
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1436A>T (p.Tyr479Phe)_Likely Pathogenic	Under 5 times		12707442, 24602495
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1444_1447del (p.Thr482Trpfs*49)_Pathogenic	Under 5 times		16996287, 33123633
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1459G>A (p.Glu487Lys)_Likely Pathogenic	Under 5 times		10868782
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.149C>A (p.Pro50His)_Pathogenic	11-20 times	Myalgia (2), Myoglobinuria (1), Rhabdomyolysis (1)	12673791, 12707442, 15622536, Show More >>
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic#	CPT2:c.1511C>T (p.Pro504Leu)_Pathogenic#	Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1547T>C (p.Phe516Ser)_Pathogenic	Under 5 times		20810031, 21913903
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1569_1570del (p.His523Glnfs*4)_Pathogenic	Under 5 times		16996287
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1634_1636del (p.Glu545del)_Uncertain Significance	Under 5 times		16996287
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1646G>A (p.Gly549Asp)_Pathogenic	Under 5 times		16996287
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1647_1650del (p.Gln550Alafs*32)_Pathogenic	Under 5 times		24602495
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1657G>A (p.Asp553Asn)_Pathogenic	Under 5 times		17936304, 7711730
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1660C>T (p.Arg554*)_Pathogenic	Under 5 times		17936304
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1665C>G (p.His555Gln)_Uncertain Significance	Under 5 times		29744303
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1666_1667del (p.Leu556Valfs*16)_Pathogenic	5-10 times	Rhabdomyolysis (2), Diarrhea (1), Muscle weakness (1), Myalgia (1), Renal insufficiency/failure (1)	28871440, 32928639, 29478820
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1724T>C (p.Leu575Pro)_Likely Pathogenic	Under 5 times		20810031, 21913903
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1769G>A (p.Ser590Asn)_Likely Pathogenic	Under 5 times		23475205
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1784del (p.Pro595Glnfs*3)_Pathogenic	Under 5 times		18550408
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1816_1817del (p.Val606Leufs*2)_Pathogenic	Under 5 times		16996287
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1822G>C (p.Asp608His)_Likely Pathogenic	Under 5 times		12673791
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.182_203del (p.Ile61Argfs*5)_Pathogenic	Under 5 times		30455135, 30897730, 23475205
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1883A>C (p.Tyr628Ser)_Pathogenic	Under 5 times		10734268, 12673791, 21378393, Show More >>
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1891C>T (p.Arg631Cys)_Pathogenic	Under 5 times		17936304, 21913903, 32463482
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1892G>A (p.Arg631His)_Likely Pathogenic	Under 5 times		35256318
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1932dup (p.Glu645Argfs*5)_Pathogenic	5-10 times	Myoglobinuria (3), Myalgia (2), Elevated circulating creatine kinase concentration (1), Rhabdomyolysis (1), Seizure (1)	17936304, 20810031, 21913903, Show More >>
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.1933G>T (p.Glu645*)_Pathogenic	Under 5 times		30514913
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.200C>G (p.Ala67Gly)_Uncertain Significance	Under 5 times		29478820
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.250T>C (p.Cys84Arg)_Uncertain Significance	Under 5 times		16996287
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.256_257del (p.Ser86Phefs*2)_Pathogenic	Under 5 times		16996287
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	More than 30 times	Myoglobinuria (58), Myalgia (36), Rhabdomyolysis (33), Muscle weakness (18), Renal insufficiency/failure (12), Urine discoloration (9), Muscle spasm (8), Pain (8), Pulmonary/respiratory (7), Fever (7), Asthenia (6), Malaise/fatigue (4), Vomiting (4), Elevated circulating creatine kinase concentration (4), Exercise intolerance (3), Muscle stiffness (3), Respiratory tract infection (2), Myopathy (1), Nausea (1), Abnormality of metabolism/homeostasis (1), Pale (1), Polypneic (1), Recurrent (1), Myoglobinemia (1), Restricted movement (1), Rigidity (1), Seizure (1), Unable to walk (1), Recurrent myositis (1), Marked paucity of spontaneous movements (1), Loss of consciousness (1), Exhausted (1), Ataxia (1), Bilateral hearing loss (1), Cardiac-other (1), Cardiomyopathy (1), Consciousness disturbances (1), Decreased muscle tone (1), Exercise-induced rhabdomyolysis (1), Gastrointestinal-other (1), Liver abnormality (1), Hyperammonemia (1), Hypoglycemia (1), Hypotonia (1), Icteric appearance (1), Indirect hyperbilirubinemia (1), Ira (1), Lipid storage myopathy (1), Weakness of muscles of respiration (1)	10090476, 10398215, 10398218, Show More >>
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.340+1G>A (Intronic)_Pathogenic	Under 5 times		30455135, 30897730, 23475205
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.340+3A>T (Intronic)_Likely Pathogenic	Under 5 times		32928639, 28871440
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.340+5G>A (Intronic)_Likely Pathogenic	Under 5 times		12809643, 30455135, 30897730
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.359A>G (p.Tyr120Cys)_Pathogenic	Under 5 times		10862092
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.362T>A (p.Leu121Gln)_Likely Pathogenic	Under 5 times		21913903
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.36_43dup (p.Ala15Glyfs*61)_Pathogenic	Under 5 times		16996287
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.370C>T (p.Arg124*)_Pathogenic	Under 5 times		24305961, 32463482, 9562964
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.371G>A (p.Arg124Gln)_Likely Pathogenic	Under 5 times		12673791, 24898617, 21378393, Show More >>
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.38del (p.Gly13Alafs*60)_Pathogenic	Under 5 times		16996287
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.437A>C (p.Asn146Thr)_Likely Pathogenic	Under 5 times		12673791, 21378393, 12840153
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.451C>T (p.Arg151Trp)_Pathogenic	Under 5 times		17936304
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.452G>A (p.Arg151Gln)_Pathogenic	5-10 times	Myalgia (3), Myoglobinuria (3), Muscle spasm (2), Exercise intolerance (1), Pulmonary/respiratory (1), Renal insufficiency/failure (1), Rh Show More >>	17936304, 18645163, 21913903, Show More >>
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.481C>T (p.Arg161Trp)_Likely Pathogenic	Under 5 times		31235404, 33123633
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.517C>T (p.Pro173Ser)_Uncertain Significance	Under 5 times		21913903
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_Pathogenic	5-10 times	Myoglobinuria (3), Fever (1), Muscle weakness (1), Myalgia (1), Renal insufficiency/failure (1), Urine discoloration (1)	16168441, 17936304, 16996287, Show More >>
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.563T>C (p.Phe188Ser)_Likely Pathogenic	Under 5 times		15613406
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.602G>A (p.Trp201*)_Pathogenic	Under 5 times		30007356, 20505667
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.638A>G (p.Asp213Gly)_Pathogenic	Under 5 times		15622536
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.641T>C (p.Met214Thr)_Pathogenic	Under 5 times		12707442, 28801073, 30514913
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.691C>T (p.Arg231Trp)_Likely Pathogenic	Under 5 times		16996287, 24602495
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.886C>T (p.Arg296*)_Pathogenic	Under 5 times		14605500
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.887G>A (p.Arg296Gln)_Pathogenic	Under 5 times		14605500
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.887G>T (p.Arg296Leu)_Likely Pathogenic	Under 5 times		21913903
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.977G>A (p.Cys326Tyr)_Uncertain Significance	Under 5 times		21913903
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	CPT2:c.98del (p.Gln33Argfs*40)_Pathogenic	Under 5 times		21913903
CPT2:c.341-2621_1121del (Intronic)_Uncertain Significance	CPT2:c.338C>T (p.Ser113Leu)_Pathogenic	Under 5 times		36109795
CPT2:c.359A>G (p.Tyr120Cys)_Pathogenic	CPT2:c.359A>G (p.Tyr120Cys)_Pathogenic	Under 5 times		18550408
CPT2:c.359A>G (p.Tyr120Cys)_Pathogenic#	CPT2:c.878G>T (p.Ser293Ile)_Uncertain Significance#	Under 5 times
CPT2:c.370C>T (p.Arg124*)_Pathogenic	CPT2:c.370C>T (p.Arg124*)_Pathogenic	Under 5 times		22652984
CPT2:c.38del (p.Gly13Alafs*60)_Pathogenic#	CPT2:c.1798G>A (p.Gly600Arg)_Pathogenic#	Under 5 times
CPT2:c.451C>T (p.Arg151Trp)_Pathogenic	CPT2:c.451C>T (p.Arg151Trp)_Pathogenic	Under 5 times		28801073, 30514913, 28529889
CPT2:c.452G>A (p.Arg151Gln)_Pathogenic	CPT2:c.452G>A (p.Arg151Gln)_Pathogenic	Under 5 times		12673791, 14605500
CPT2:c.452G>A (p.Arg151Gln)_Pathogenic	CPT2:c.680C>T (p.Pro227Leu)_Pathogenic	Under 5 times		9758712
CPT2:c.481C>T (p.Arg161Trp)_Likely Pathogenic	CPT2:c.481C>T (p.Arg161Trp)_Likely Pathogenic	Under 5 times		12673791
CPT2:c.520G>A (p.Glu174Lys)_Pathogenic	CPT2:c.151A>G (p.Arg51Gly)_Uncertain Significance	Under 5 times		22841441, 29552494
CPT2:c.520G>A (p.Glu174Lys)_Pathogenic	CPT2:c.1737del (p.Tyr579*)_Pathogenic	Under 5 times		18577113
CPT2:c.520G>A (p.Glu174Lys)_Pathogenic	CPT2:c.520G>A (p.Glu174Lys)_Pathogenic	Under 5 times		25919294, 2752669, 9600456
CPT2:c.520G>A (p.Glu174Lys)_Pathogenic	CPT2:c.656G>A (p.Arg219Gln)_Uncertain Significance	Under 5 times		30514913
CPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_Pathogenic	CPT2:c.359A>G (p.Tyr120Cys)_Pathogenic	Under 5 times		16996287
CPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_Pathogenic	CPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_Pathogenic	Under 5 times		21641254
CPT2:c.577C>T (p.Arg193Cys)_Likely Pathogenic	CPT2:c.577C>T (p.Arg193Cys)_Likely Pathogenic	Under 5 times		26436962
CPT2:c.587C>T (p.Pro196Leu)_Uncertain Significance	CPT2:c.587C>T (p.Pro196Leu)_Uncertain Significance	Under 5 times		35281663
CPT2:c.628T>G (p.Tyr210Asp)_Likely Pathogenic	CPT2:c.628T>G (p.Tyr210Asp)_Likely Pathogenic	Under 5 times		14605500
CPT2:c.62C>A (p.Pro21His)_Likely Pathogenic	CPT2:c.99G>C (p.Gln33His)_Likely Pathogenic	Under 5 times		22494076
CPT2:c.631C>T (p.Pro211Ser)_Likely Pathogenic	CPT2:c.631C>T (p.Pro211Ser)_Likely Pathogenic	Under 5 times		35342266
CPT2:c.638A>G (p.Asp213Gly)_Pathogenic	CPT2:c.1073T>G (p.Leu358Arg)_Likely Pathogenic	Under 5 times		34626609
CPT2:c.680C>T (p.Pro227Leu)_Pathogenic	CPT2:c.680C>T (p.Pro227Leu)_Pathogenic	5-10 times	Arrhythmia (3), Cardiac-other (3), Abnormal renal morphology (3), Hyperammonemia (2), Dandy-walker malformation (2) Show More >>	18550408, 25827434, 25827434, Show More >>
CPT2:c.739A>T (p.Arg247Trp)_Likely Pathogenic	CPT2:c.739A>T (p.Arg247Trp)_Likely Pathogenic	Under 5 times		17936304
CPT2:c.746del (p.Gly249Glufs*16)_Pathogenic	CPT2:c.647A>G (p.Gln216Arg)_Likely Pathogenic	Under 5 times		21921422
CPT2:c.748_749del (p.Asn250Phefs*5)_Pathogenic#	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic CPT2:c.1460A>C (p.Glu487Ala)_Pathogenic#	Under 5 times
CPT2:c.886C>T (p.Arg296*)_Pathogenic	CPT2:c.1148T>A (p.Phe383Tyr)_Pathogenic	Under 5 times		34394177
CPT2:c.887G>A (p.Arg296Gln)_Pathogenic	CPT2:c.1891C>T (p.Arg631Cys)_Pathogenic	Under 5 times		35028265
CPT2:c.896_906dup (p.Arg303Glyfs*8)_Pathogenic	CPT2:c.1711C>A (p.Pro571Thr)_Pathogenic	Under 5 times		35360862
CPT2:c.983A>G (p.Asp328Gly)_Pathogenic	CPT2:c.983A>G (p.Asp328Gly)_Pathogenic	Under 5 times		12673791, 12840153, 12673791, Show More >>
CPT2:c.989dup (p.Ile332Hisfs*2)_Pathogenic	CPT2:c.1711C>A (p.Pro571Thr)_Pathogenic	Under 5 times		35360862
CPT2:c.98del (p.Gln33Argfs*40)_Pathogenic	CPT2:c.341-2A>G (Intronic)_Pathogenic	Under 5 times		30957255
CPT2:c.? (p.Gly600Arg)_Pathogenic	CPT2:c.? (p.Gly600Arg)_Pathogenic	Under 5 times		14605500
CPT2:c.? (p.Tyr290*)_Pathogenic	CPT2:c.? (p.Tyr290*)_Pathogenic	Under 5 times		14605500
HADHA:c.1025T>C (p.Leu342Pro)_Likely Pathogenic	HADHA:c.1493A>G (p.His498Arg)_Likely Pathogenic	Under 5 times		27117294
HADHA:c.1086-3_1092del (Intronic)_Pathogenic#	CPT1A:c.1199G>C (p.Gly400Ala)_Uncertain Significance#	Under 5 times
HADHA:c.1132C>T (p.Gln378*)_Pathogenic#	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic#	Under 5 times
HADHA:c.1195C>T (p.Arg399*)_Pathogenic	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	Under 5 times		33638202
HADHA:c.1336_1393del (p.Glu446*)_Pathogenic	HADHA:c.556C>G (p.Gln186Glu)_Likely Pathogenic	Under 5 times		24305961
HADHA:c.1393_1479del (p.Pro467_Ile495del)_Likely Pathogenic	HADHA:c.1393_1479del (p.Pro467_Ile495del)_Likely Pathogenic	Under 5 times		26109258
HADHA:c.13C>T (p.Arg5Trp)_Uncertain Significance#	ACADVL:c.1372T>C (p.Phe458Leu)_Pathogenic#	Under 5 times
HADHA:c.1480-139C>G (Intronic)_Uncertain Significance	HADHA:c.1480-139C>G (Intronic)_Uncertain Significance	Under 5 times		30747351
HADHA:c.1493A>G (p.His498Arg)_Likely Pathogenic	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	Under 5 times		33638202
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic#	ACADVL:c.1818G>A (p.Trp606*)_Pathogenic#	Under 5 times
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1025T>C (p.Leu342Pro)_Likely Pathogenic	Under 5 times		9266371
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1058_1059delinsT (p.Lys353Ilefs*19)_Pathogenic	Under 5 times		21549624, 32253025
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1086-3_1092del (Intronic)_Pathogenic	Under 5 times		11241049
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1108G>A (p.Gly370Arg)_Uncertain Significance	Under 5 times		35782617
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1132C>T (p.Gln378*)_Pathogenic	Under 5 times		22030098, 24064340, 30912279, Show More >>
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1195C>T (p.Arg399*)_Pathogenic	Under 5 times		21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1220+1G>C (Intronic)_Pathogenic	Under 5 times		21103935
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1220+2T>C (Intronic)_Pathogenic	Under 5 times		12413376, 12237653
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1381del (p.Glu461Lysfs*2)_Pathogenic	Under 5 times		21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1432G>C (p.Ala478Pro)_Uncertain Significance	Under 5 times		21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1432del (p.Ala478Leufs*17)_Pathogenic	Under 5 times		35383965
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1433C>T (p.Ala478Val)_Uncertain Significance	Under 5 times		21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	More than 30 times	Liver abnormality (54), Hypoglycemia (51), Retinal/choroid disorder (43), Cardiomyopathy (34), Vomiting (26), Rhabdomyolysis (25), Hypotonia (24), Peripheral neuropathy (21), Cardiac-other (19), Abnormality of metabolism/homeostasis (18), Cardiac arrest (15), Decreased body weight (15), Pulmonary/respiratory (14), Seizure (12), Absent achilles reflex (11), Lethargy (9), Myalgia (8), Developmental delay (7), Diarrhea (7), Jaundice (6), Respiratory tract infection (6), Arrhythmia (6), Encephalopathy (5), Muscle weakness (5), Poor feeding (3), Gastrointestinal-other (3), Myopathy (3), Fever (3), Malaise/fatigue (2), Hypotension (2), Poor vision (2), Renal insufficiency/failure (2), Somnolence (2), Ataxia (2), Asphyxia (2), Hyperammonemia (2), Coma (2), Hypopallesthesia (1), Pulmonary hemorrhage (1), Unconsciousness (1), Tics (1), Thrombocytopenia (1), Desaturation (1), Cataract (1), Romberg (1), Axial hypotonia (1), Reye syndrome-like episodes (1), Acute decompensation (1), Drowsy (1), Exercise intolerance (1), Circulatory collapse (1), Feeding difficulties (1), Feeding problems (1), Capillary leakage syndrome (1), Paleness (1), Pain (1), Other (1), Fetal distress during delivery (1), Gait (1), Microcephaly (1), Depression (1), Loss of consciousness (1), Anaemia (1), Hyperbilirubinemia (1), Dehydration (1)	10352164, 10384386, 10518281, Show More >>
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1533dup (p.Ile512Tyrfs*29)_Pathogenic	Under 5 times		21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.157C>T (p.Arg53*)_Pathogenic	Under 5 times		20659813
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1620+2_1620+6del (Intronic)_Pathogenic	Under 5 times		10352164, 16040264, 32999401
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.162del (p.Asn55Thrfs*7)_Pathogenic	Under 5 times		12237653
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1646G>C (p.Arg549Thr)_Uncertain Significance	Under 5 times		34578803
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1663_1665del (p.Met555del)_Uncertain Significance	Under 5 times		21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1664T>G (p.Met555Arg)_Uncertain Significance	Under 5 times		34732400
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1678C>T (p.Arg560*)_Pathogenic	5-10 times	Abnormality of metabolism/homeostasis (1), And decreased oral intake (1), Cardiac-other (1), Coma (1), Fetal distress (1), Hyperpigmented macula (1), Hypoglycemia (1), Hypotonia (1), Irritability (1), Lethargy (1), Liver abnormality (1), Myalgia (1), Myoglobinuria (1), Retinal/choroid disorder (1), Show More >>	11427448, 14630990, 20589231, Show More >>
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1690-2A>G (Intronic)_Pathogenic	Under 5 times		23430857
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1712T>C (p.Leu571Pro)_Pathogenic	Under 5 times		24305961, 26109258, 32463482
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.180+3A>G (Intronic)_Likely Pathogenic	5-10 times	Myalgia (2), Rhabdomyolysis (2), Diminished ankle reflexes (1), Myoglobinuria (1), Urine discoloration (1)	22030098, 23868323, 29268767, Show More >>
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.180_180+5delinsAT (Intronic)_Pathogenic	Under 5 times		33638202
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic#	HADHA:c.1893del (p.Lys631Asnfs*13)_Pathogenic#	Under 5 times
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1915_1918del (p.Tyr639Argfs*4)_Pathogenic	Under 5 times		35281663
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1967del (p.Leu656*)_Pathogenic	Under 5 times		10352164, 18045290, 21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.1981_1999del (p.Leu661Serfs*12)_Pathogenic	Under 5 times		21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.2000+1G>A (Intronic)_Pathogenic	Under 5 times		14630990
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.2027G>A (p.Arg676His)_Likely Pathogenic	Under 5 times		11427448, 15902556, 26109258
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.2059del (p.Met687Cysfs*43)_Pathogenic	Under 5 times		27652820
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.2099del (p.Gly700Glufs*30)_Pathogenic	Under 5 times		32978841, 35383965
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.2107G>A (p.Gly703Arg)_Pathogenic	Under 5 times		21103935
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.2132dup (p.Pro712Alafs*26)_Pathogenic	Under 5 times		9266371
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.2146+6_2146+18del (Intronic)_Uncertain Significance	Under 5 times		21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.2198T>C (p.Leu733Pro)_Uncertain Significance	Under 5 times		8739956
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.2225_2228dup (p.Phe744Thrfs*10)_Pathogenic	Under 5 times		12237653, 21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.266T>G (p.Val89Gly)_Uncertain Significance	Under 5 times		21103935
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.274_278del (p.Ser92Lysfs*10)_Pathogenic	11-20 times	Hypoglycemia (4), Liver abnormality (3), Rhabdomyolysis (3), Cardiac-other (2), Peripheral neuropathy (1)	10352164, 11241049, 16040264, Show More >>
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.278C>G (p.Ser93*)_Pathogenic	Under 5 times		34578803
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.315-1G>A (Intronic)_Pathogenic	Under 5 times		19852779
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.315-2A>T (Intronic)_Pathogenic	Under 5 times		10352164
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.479_482delinsAATA (p.Ile160_Gln763delinsLys)_Likely Pathogenic	Under 5 times		10352164, 16876451, 16996288, Show More >>
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.509G>A (p.Gly170Asp)_Likely Pathogenic	Under 5 times		11427448
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.58del (p.Arg20Alafs*17)_Pathogenic	Under 5 times		34578803
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.703C>T (p.Arg235Trp)_Pathogenic	Under 5 times		28871440, 32928639, 34578803
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.761_764del (p.Lys254Argfs*14)_Pathogenic	Under 5 times		21103935
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.871C>T (p.Arg291*)_Pathogenic	Under 5 times		10352164, 23798014
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.914T>A (p.Ile305Asn)_Pathogenic	Under 5 times		32253025, 34578803
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.918+1G>A (Intronic)_Pathogenic	Under 5 times		21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.918+6T>G (Intronic)_Uncertain Significance	Under 5 times		21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	HADHA:c.982G>A (p.Gly328Arg)_Likely Pathogenic HADHA:c.1072C>A (p.Gln358Lys)_Benign	Under 5 times		26109258, 35383965
HADHA:c.1678C>T (p.Arg560*)_Pathogenic	HADHA:c.1678C>T (p.Arg560*)_Pathogenic	Under 5 times		21549624, 33123633
HADHA:c.1689+2T>G (Intronic)_Pathogenic	HADHA:c.1392+1G>A (Intronic)_Pathogenic	Under 5 times		27014569, 28515471
HADHA:c.1689+2T>G (Intronic)_Pathogenic	HADHA:c.1689+2T>G (Intronic)_Pathogenic	Under 5 times		17143551, 29519241
HADHA:c.1689+2T>G (Intronic)_Pathogenic	HADHA:c.361C>T (p.Gln121*)_Pathogenic	Under 5 times		28515471
HADHA:c.1712T>C (p.Leu571Pro)_Pathogenic	HADHA:c.446G>T (p.Gly149Val)_Uncertain Significance	Under 5 times		29124685
HADHA:c.1793_1794del (p.His598Argfs*33)_Pathogenic	HADHA:c.1793_1794del (p.His598Argfs*33)_Pathogenic	Under 5 times		11855930, 12442268, 29519241
HADHA:c.180+1G>A (Intronic)_Pathogenic	HADHA:c.180+3A>G (Intronic)_Likely Pathogenic	Under 5 times		10352164
HADHA:c.180+3A>G (Intronic)_Likely Pathogenic	HADHA:c.180+1G>A (Intronic)_Pathogenic	Under 5 times		7738175, 8651282
HADHA:c.180+3A>G (Intronic)_Likely Pathogenic	HADHA:c.180+3A>G (Intronic)_Likely Pathogenic	Under 5 times		33123633
HADHA:c.180_180+5delinsAT (Intronic)_Pathogenic#	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic#	Under 5 times
HADHA:c.180_180+5delinsAT (Intronic)_Pathogenic	HADHA:c.180+3A>G (Intronic)_Likely Pathogenic	Under 5 times		10400133
HADHA:c.1828C>G (p.Arg610Gly)_Likely Pathogenic	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	Under 5 times		21103935
HADHA:c.1828C>G (p.Arg610Gly)_Likely Pathogenic	HADHA:c.2281T>G (p.Phe761Val)_Likely Pathogenic	5-10 times	Absent deep tendon reflexes (3), Peripheral neuropathy (3), Ataxic gait (2), Hypotonia (1), Stumble (1)	33638202, 35433174
HADHA:c.1990_1991del (p.Lys664Valfs*2)_Pathogenic	HADHA:c.1990_1991del (p.Lys664Valfs*2)_Pathogenic	Under 5 times		21549624
HADHA:c.2026C>T (p.Arg676Cys)_Likely Pathogenic	HADHA:c.2027G>A (p.Arg676His)_Likely Pathogenic	Under 5 times		10352164
HADHA:c.2027G>A (p.Arg676His)_Likely Pathogenic	HADHA:c.1967del (p.Leu656*)_Pathogenic	Under 5 times		21549624
HADHA:c.2027G>T (p.Arg676Leu)_Uncertain Significance	HADHA:c.2027G>T (p.Arg676Leu)_Uncertain Significance	Under 5 times		24305961, 28283530
HADHA:c.2102A>G (p.Asp701Gly)_Likely Pathogenic	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	Under 5 times		14630990, 22030098, 24064340, Show More >>
HADHA:c.2107G>A (p.Gly703Arg)_Pathogenic	HADHA:c.1336G>A (p.Glu446Lys)_Likely Pathogenic	Under 5 times		26109258
HADHA:c.2114T>A (p.Val705Asp)_Likely Pathogenic	HADHA:c.2114T>A (p.Val705Asp)_Likely Pathogenic	Under 5 times		26109258
HADHA:c.240G>A (p.Trp80*)_Pathogenic#	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic#	Under 5 times
HADHA:c.274_278del (p.Ser92Lysfs*10)_Pathogenic	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	Under 5 times		12809642, 33204595
HADHA:c.274_278del (p.Ser92Lysfs*10)_Pathogenic	HADHA:c.2063G>A (p.Cys688Tyr)_Uncertain Significance	Under 5 times		21549624
HADHA:c.274_278del (p.Ser92Lysfs*10)_Pathogenic	HADHA:c.274_278del (p.Ser92Lysfs*10)_Pathogenic	Under 5 times		21549624, 28392417
HADHA:c.325G>A (p.Ala109Thr)_Uncertain Significance ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	ACADVL:c.848T>C (p.Val283Ala)_Pathogenic#	Under 5 times
HADHA:c.389T>C (p.Leu130Pro)_Likely Pathogenic	HADHA:c.389T>C (p.Leu130Pro)_Likely Pathogenic	Under 5 times		12442268
HADHA:c.442G>A (p.Gly148Arg)_Uncertain Significance	HADHA:c.442G>A (p.Gly148Arg)_Uncertain Significance	Under 5 times		21549624
HADHA:c.453+1G>A (Intronic)_Pathogenic	HADHA:c.453+1G>A (Intronic)_Pathogenic	Under 5 times		35281663
HADHA:c.539C>T (p.Pro180Leu)_Uncertain Significance	HADHA:c.539C>T (p.Pro180Leu)_Uncertain Significance	Under 5 times		32657593
HADHA:c.556C>G (p.Gln186Glu)_Likely Pathogenic	HADHA:c.1392+1G>A (Intronic)_Pathogenic	Under 5 times		35758105
HADHA:c.574-2A>G (Intronic)_Pathogenic	HADHA:c.574-2A>G (Intronic)_Pathogenic	Under 5 times		10352164, 11241049, 11427448, Show More >>
HADHA:c.602T>C (p.Met201Thr)_Uncertain Significance	HADHA:c.602T>C (p.Met201Thr)_Uncertain Significance	Under 5 times		33638202
HADHA:c.676+2T>C (Intronic)_Pathogenic	HADHA:c.676+2T>C (Intronic)_Pathogenic	Under 5 times		21549624
HADHA:c.703C>T (p.Arg235Trp)_Pathogenic	HADHA:c.2107G>A (p.Gly703Arg)_Pathogenic	Under 5 times		34878152
HADHA:c.703C>T (p.Arg235Trp)_Pathogenic	HADHA:c.703C>T (p.Arg235Trp)_Pathogenic	Under 5 times		19433283, 21549624, 34578803
HADHA:c.703C>T (p.Arg235Trp)_Pathogenic	HADHA:c.955G>A (p.Gly319Ser)_Likely Pathogenic	Under 5 times		33638202
HADHA:c.731C>T (p.Ala244Val)_Uncertain Significance	HADHA:c.919-2A>G (Intronic)_Pathogenic	Under 5 times		15902556
HADHA:c.799+1G>A (Intronic)_Likely Pathogenic#	HADHA:c.799+1G>A (Intronic)_Likely Pathogenic#	Under 5 times
HADHA:c.845T>A (p.Val282Asp)_Likely Pathogenic	HADHA:c.845T>A (p.Val282Asp)_Likely Pathogenic	Under 5 times		10352164, 7748366, 9739053
HADHA:c.871C>T (p.Arg291*)_Pathogenic#	ACADVL:c.1220G>C (p.Gly407Ala)_Pathogenic#	Under 5 times
HADHA:c.871C>T (p.Arg291*)_Pathogenic#	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic#	Under 5 times
HADHA:c.871C>T (p.Arg291*)_Pathogenic	HADHA:c.871C>T (p.Arg291*)_Pathogenic	Under 5 times		18485779
HADHA:c.914T>A (p.Ile305Asn)_Pathogenic	HADHA:c.138dup (p.Gly47Argfs*9)_Pathogenic	Under 5 times		21549624
HADHA:c.914T>A (p.Ile305Asn)_Pathogenic	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic	5-10 times	Developmental delay (1)	21549624, 26109258, 29268767
HADHA:c.914T>A (p.Ile305Asn)_Pathogenic	HADHA:c.871C>T (p.Arg291*)_Pathogenic	Under 5 times		10352164, 2019931, 9739053
HADHA:c.918+1G>A (Intronic)_Pathogenic	HADHA:c.918+1G>A (Intronic)_Pathogenic	Under 5 times		26109258
HADHA:c.955G>A (p.Gly319Ser)_Likely Pathogenic	HADHA:c.453+1G>T (Intronic)_Pathogenic	Under 5 times		30682426
HADHA:c.975+6C>T (Intronic)_Uncertain Significance#	HADHB:c.1000A>C (p.Lys334Gln)_Uncertain Significance#	Under 5 times
HADHA:c.975G>A (p.Gln325=)_Uncertain Significance#	HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic#	Under 5 times
HADHB:c.-8-2780_109+2924del (Intronic)_Pathogenic	HADHB:c.788A>G (p.Asp263Gly)_Pathogenic	Under 5 times		21549624
HADHB:c.1091A>G (p.Glu364Gly)_Uncertain Significance	HADHB:c.1348G>T (p.Gly450Cys)_Uncertain Significance	Under 5 times		34578803
HADHB:c.1136A>G (p.His379Arg)_Pathogenic	HADHB:c.1136A>G (p.His379Arg)_Pathogenic	Under 5 times		25420603
HADHB:c.1136A>G (p.His379Arg)_Pathogenic	HADHB:c.1211dup (p.Arg405*)_Pathogenic	Under 5 times		29519241
HADHB:c.1137del (p.His379Glnfs*76)_Pathogenic	HADHB:c.1191G>A (p.Trp397*)_Pathogenic	Under 5 times		21549624
HADHB:c.1154A>C (p.Gln385Pro)_Uncertain Significance	HADHB:c.1154A>C (p.Gln385Pro)_Uncertain Significance	Under 5 times		28112527
HADHB:c.1165A>G (p.Asn389Asp)_Pathogenic	HADHB:c.1165A>G (p.Asn389Asp)_Pathogenic	Under 5 times		21549624, 28392417
HADHB:c.1165A>G (p.Asn389Asp)_Pathogenic	HADHB:c.919A>G (p.Asn307Asp)_Likely Pathogenic	Under 5 times		17143551
HADHB:c.1175C>T (p.Ala392Val)_Likely Pathogenic	HADHB:c.1175C>T (p.Ala392Val)_Likely Pathogenic	Under 5 times		24664533
HADHB:c.1175C>T (p.Ala392Val)_Likely Pathogenic	HADHB:c.1364T>G (p.Val455Gly)_Pathogenic	Under 5 times		28515471, 32509533
HADHB:c.1175_1177del (p.Ala392_Met393delinsVal)_Uncertain Significance	HADHB:c.1175_1177del (p.Ala392_Met393delinsVal)_Uncertain Significance	Under 5 times		21549624
HADHB:c.1192T>C (p.Phe398Leu)_Uncertain Significance	HADHB:c.1192T>C (p.Phe398Leu)_Uncertain Significance	Under 5 times		28132977
HADHB:c.1198G>T (p.Glu400*)_Pathogenic	HADHB:c.442+663A>G (Intronic)_Uncertain Significance	Under 5 times		30029694
HADHB:c.1228_1240del (p.Gly410Trpfs*41)_Pathogenic	HADHB:c.181C>T (p.Arg61Cys)_Likely Pathogenic	Under 5 times		31527676
HADHB:c.1279G>A (p.Gly427Arg)_Uncertain Significance#	HADHB:c.1279G>A (p.Gly427Arg)_Uncertain Significance#	Under 5 times
HADHB:c.1280G>A (p.Gly427Glu)_Uncertain Significance	HADHB:c.206C>T (p.Thr69Ile)_Uncertain Significance	Under 5 times		30193751
HADHB:c.1331G>A (p.Arg444Lys)_Likely Pathogenic	HADHB:c.1331G>A (p.Arg444Lys)_Likely Pathogenic	Under 5 times		26109258, 9259266, 9305349, Show More >>
HADHB:c.1331G>A (p.Arg444Lys)_Likely Pathogenic	HADHB:c.520C>T (p.Arg174Cys)_Pathogenic	Under 5 times		22000755, 28515471
HADHB:c.1331G>A (p.Arg444Lys)_Likely Pathogenic	HADHB:c.776_777insT (p.Leu260Thrfs*4)_Pathogenic	Under 5 times		19699128, 9259266, 8645256, Show More >>
HADHB:c.1364T>G (p.Val455Gly)_Pathogenic	HADHB:c.1364T>G (p.Val455Gly)_Pathogenic	Under 5 times		19699128
HADHB:c.1390-515_1390-499del (Intronic)_Likely Pathogenic	HADHB:c.1390-515_1390-499del (Intronic)_Likely Pathogenic	Under 5 times		28283530
HADHB:c.170_172del (p.Val57del)_Uncertain Significance	HADHB:c.170_172del (p.Val57del)_Uncertain Significance	Under 5 times		21549624
HADHB:c.176G>A (p.Gly59Asp)_Uncertain Significance	HADHB:c.740G>A (p.Arg247His)_Likely Pathogenic	Under 5 times		12754706
HADHB:c.181C>T (p.Arg61Cys)_Likely Pathogenic	HADHB:c.181C>T (p.Arg61Cys)_Likely Pathogenic	Under 5 times		12754706
HADHB:c.181C>T (p.Arg61Cys)_Likely Pathogenic	HADHB:c.254+5G>A (Intronic)_Uncertain Significance	Under 5 times		35383965
HADHB:c.181C>T (p.Arg61Cys)_Likely Pathogenic	HADHB:c.349A>G (p.Arg117Gly)_Pathogenic	Under 5 times		12754706
HADHB:c.182G>A (p.Arg61His)_Likely Pathogenic	HADHB:c.1289T>C (p.Phe430Ser)_Pathogenic	Under 5 times		16423905, 35383965, 35782614
HADHB:c.182G>A (p.Arg61His)_Likely Pathogenic	HADHB:c.740G>A (p.Arg247His)_Likely Pathogenic	Under 5 times		12754706, 15617873, 8651282
HADHB:c.184A>G (p.Thr62Ala)_Uncertain Significance	HADHB:c.254+1G>A (Intronic)_Pathogenic	Under 5 times		24379101
HADHB:c.18C>A (p.Tyr6*)_Pathogenic	HADHB:c.631-1G>A (Intronic)_Pathogenic	Under 5 times		35383965
HADHB:c.209+1G>C (Intronic)_Pathogenic	HADHB:c.209+1G>C (Intronic)_Pathogenic	Under 5 times		21549624, 35383965
HADHB:c.209+1G>C (Intronic)_Pathogenic	HADHB:c.255-1G>A (Intronic)_Pathogenic	Under 5 times		33123633
HADHB:c.209+1G>C (Intronic)_Pathogenic	HADHB:c.397A>G (p.Thr133Ala)_Uncertain Significance	Under 5 times		35403730
HADHB:c.209+1G>C (Intronic)_Pathogenic	HADHB:c.980T>C (p.Leu327Pro)_Uncertain Significance	Under 5 times		28685493
HADHB:c.210-1G>C (Intronic)_Pathogenic	HADHB:c.686G>T (p.Arg229Leu)_Pathogenic	Under 5 times		24314034
HADHB:c.210-1G>T (Intronic)_Pathogenic#	HADHB:c.210-1G>T (Intronic)_Pathogenic#	Under 5 times
HADHB:c.210-?_354+?del (Deletion (Exons 5-6))_Pathogenic#	HADHB:c.1289T>C (p.Phe430Ser)_Pathogenic#	Under 5 times
HADHB:c.248C>G (p.Ala83Gly)_Likely Pathogenic	HADHB:c.694G>A (p.Ala232Thr)_Likely Pathogenic	Under 5 times		35403730
HADHB:c.255-1G>A (Intronic)_Pathogenic	HADHB:c.998C>T (p.Pro333Leu)_Uncertain Significance	Under 5 times		35433169
HADHB:c.305T>C (p.Ile102Thr)_Uncertain Significance#	HADHA:c.1117G>A (p.Gly373Arg)_Uncertain Significance ACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic#	Under 5 times
HADHB:c.340A>G (p.Asn114Asp)_Likely Pathogenic	HADHB:c.1148C>T (p.Ser383Leu)_Likely Pathogenic	Under 5 times		29519241
HADHB:c.340A>G (p.Asn114Asp)_Likely Pathogenic	HADHB:c.739C>T (p.Arg247Cys)_Likely Pathogenic	Under 5 times		29519241
HADHB:c.340A>G (p.Asn114Asp)_Likely Pathogenic	HADHB:c.919A>G (p.Asn307Asp)_Likely Pathogenic	Under 5 times		17143551, 29519241
HADHB:c.346G>T (p.Ala116Ser)_Uncertain Significance#	HADHA:c.1393G>C (p.Val465Leu)_Uncertain Significance#	Under 5 times
HADHB:c.354+5del (Intronic)_Uncertain Significance	HADHB:c.354+5del (Intronic)_Uncertain Significance	Under 5 times		35383965
HADHB:c.357dup (p.Ala120Cysfs*8)_Pathogenic	HADHB:c.1364T>G (p.Val455Gly)_Pathogenic	Under 5 times		19880769
HADHB:c.392C>T (p.Ala131Val)_Uncertain Significance	HADHB:c.427C>G (p.Gln143Glu)_Uncertain Significance	Under 5 times		32348839
HADHB:c.397A>C (p.Thr133Pro)_Likely Pathogenic	HADHB:c.881C>G (p.Pro294Arg)_Likely Pathogenic	Under 5 times		12754706
HADHB:c.397A>G (p.Thr133Ala)_Uncertain Significance#	ACADVL:c.779C>T (p.Thr260Met)_Pathogenic ACADVL:c.877del (p.His293Metfs*60)_Pathogenic#	Under 5 times
HADHB:c.397A>G (p.Thr133Ala)_Uncertain Significance	HADHB:c.1289T>C (p.Phe430Ser)_Pathogenic	Under 5 times		35403730
HADHB:c.397A>G (p.Thr133Ala)_Uncertain Significance	HADHB:c.397A>G (p.Thr133Ala)_Uncertain Significance	Under 5 times		35383965, 35403730
HADHB:c.407T>C (p.Met136Thr)_Likely Pathogenic	HADHB:c.421G>A (p.Ala141Thr)_Uncertain Significance	Under 5 times		31521624
HADHB:c.407T>C (p.Met136Thr)_Likely Pathogenic	HADHB:c.520C>T (p.Arg174Cys)_Pathogenic	Under 5 times		32348839
HADHB:c.442+614A>G (Intronic)_Likely Pathogenic	HADHB:c.1136A>G (p.His379Arg)_Pathogenic	Under 5 times		18693053, 15056246
HADHB:c.443-10T>C (Intronic)_Uncertain Significance#	HADHB:c.1150-?_1389+?del (Deletion (Exons 14-15))_Likely Pathogenic#	Under 5 times
HADHB:c.443-20_624delinsCACACAAG (Intronic)_Uncertain Significance	HADHB:c.443-20_624delinsCACACAAG (Intronic)_Uncertain Significance	Under 5 times		31575911
HADHB:c.490G>A (p.Gly164Ser)_Uncertain Significance	HADHB:c.686G>A (p.Arg229Gln)_Likely Pathogenic	Under 5 times		34712195
HADHB:c.522dup (p.His175Serfs*11)_Pathogenic	HADHB:c.1376C>A (p.Ala459Glu)_Uncertain Significance	Under 5 times		15902556, 11196108
HADHB:c.580C>T (p.Gln194*)_Pathogenic	HADHB:c.1115A>T (p.Asp372Val)_Likely Pathogenic	Under 5 times		33638202
HADHB:c.607C>T (p.Arg203*)_Pathogenic	HADHB:c.881C>T (p.Pro294Leu)_Likely Pathogenic	Under 5 times		12754706
HADHB:c.640G>A (p.Val214Ile)_Uncertain Significance#	ACADVL:c.896_898del (p.Lys299del)_Pathogenic#	Under 5 times
HADHB:c.686G>A (p.Arg229Gln)_Likely Pathogenic	HADHB:c.686G>A (p.Arg229Gln)_Likely Pathogenic	Under 5 times		30990523
HADHB:c.693del (p.Ala232Leufs*20)_Pathogenic	HADHB:c.881C>G (p.Pro294Arg)_Likely Pathogenic	Under 5 times		12754706
HADHB:c.694G>A (p.Ala232Thr)_Likely Pathogenic	HADHB:c.694G>A (p.Ala232Thr)_Likely Pathogenic	Under 5 times		35433169
HADHB:c.712C>T (p.Arg238Trp)_Uncertain Significance	HADHB:c.712C>T (p.Arg238Trp)_Uncertain Significance	Under 5 times		30682426
HADHB:c.725A>G (p.Asp242Gly)_Likely Pathogenic	HADHB:c.839G>A (p.Gly280Asp)_Uncertain Significance	Under 5 times		12754706
HADHB:c.739C>T (p.Arg247Cys)_Likely Pathogenic	HADHB:c.739C>T (p.Arg247Cys)_Likely Pathogenic	Under 5 times		28649548
HADHB:c.739C>T (p.Arg247Cys)_Likely Pathogenic	HADHB:c.817del (p.Asp273Ilefs*20)_Pathogenic	Under 5 times		19699128, 22841441
HADHB:c.788A>G (p.Asp263Gly)_Pathogenic	HADHB:c.(-9+1_-8-1)_(109+1_110-1)del (Intronic)_Pathogenic	Under 5 times		28392417
HADHB:c.788A>G (p.Asp263Gly)_Pathogenic	HADHB:c.788A>G (p.Asp263Gly)_Pathogenic	Under 5 times		21549624
HADHB:c.811+82A>G (Intronic)_Uncertain Significance	HADHB:c.255-713_811+86del (p.Gly86Lysfs*8)_Uncertain Significance	Under 5 times		32257295
HADHB:c.845G>A (p.Arg282His)_Uncertain Significance#	HADHA:c.1793_1794del (p.His598Argfs*33)_Pathogenic#	Under 5 times
HADHB:c.88_91del (p.Gln31Tyrfs*15)_Pathogenic	HADHB:c.88_91del (p.Gln31Tyrfs*15)_Pathogenic	Under 5 times		20659813
HADHB:c.919A>G (p.Asn307Asp)_Likely Pathogenic	HADHB:c.1165A>G (p.Asn389Asp)_Pathogenic	Under 5 times		29519241
HADHB:c.976G>C (p.Ala326Pro)_Likely Pathogenic	HADHB:c.976G>C (p.Ala326Pro)_Likely Pathogenic	Under 5 times		12548384
SLC25A20:c.109C>T (p.Arg37*)_Pathogenic	SLC25A20:c.706C>T (p.Arg236*)_Pathogenic	Under 5 times		34626609
SLC25A20:c.10C>T (p.Gln4*)_Pathogenic#	CPT1A:c.454-6C>G (Intronic)_Uncertain Significance SLC25A20:c.779_781del (p.Glu260del)_Uncertain Significance#	Under 5 times
SLC25A20:c.10C>T (p.Gln4*)_Pathogenic#	SLC25A20:c.897dup (p.Asn300Glnfs*24)_Pathogenic#	Under 5 times
SLC25A20:c.110G>C (p.Arg37Pro)_Likely Pathogenic	SLC25A20:c.110G>C (p.Arg37Pro)_Likely Pathogenic	Under 5 times		31575911
SLC25A20:c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla)_Pathogenic	SLC25A20:c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla)_Pathogenic	Under 5 times		15365988
SLC25A20:c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla)_Pathogenic#	SLC25A20:c.536A>G (p.Asp179Gly)_Uncertain Significance HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic#	Under 5 times
SLC25A20:c.198+4G>A (Intronic)_Uncertain Significance#	ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic#	Under 5 times
SLC25A20:c.199-10T>G (Intronic)_Likely Pathogenic	SLC25A20:c.199-10T>G (Intronic)_Likely Pathogenic	11-20 times	Hypoglycemia (6), Lethargy (6), Hypotonia (6), Arrhythmia (5), Pulmonary/respiratory (5), Cardiac arrest (4), Hyperammonemia (4), Encephalopathy (3), Liver abnormality (3), Seizure (3), Cardiomyopathy (3), Hypothermia (2), Gastrointestinal-other (1), Developmental delay (1), Anemia (1), Cyanosis (1 Show More >>	12559850, 25459972, 25604974, Show More >>
SLC25A20:c.199-10T>G (Intronic)_Likely Pathogenic	SLC25A20:c.1A>G (p.Met1Val)_Pathogenic	Under 5 times		29137068
SLC25A20:c.199-10T>G (Intronic)_Likely Pathogenic	SLC25A20:c.576G>A (p.Trp192*)_Pathogenic	Under 5 times		24088670
SLC25A20:c.199-10T>G (Intronic)_Likely Pathogenic	SLC25A20:c.84del (p.His29Thrfs*100)_Pathogenic	Under 5 times		11592821, 1598097
SLC25A20:c.1A>G (p.Met1Val)_Pathogenic	SLC25A20:c.199-10T>G (Intronic)_Likely Pathogenic	Under 5 times		35360862
SLC25A20:c.226G>C (p.Ala76Pro)_Uncertain Significance#	ACADVL:c.587C>T (p.Ala196Val)_Uncertain Significance#	Under 5 times
SLC25A20:c.241G>A (p.Gly81Arg)_Pathogenic	SLC25A20:c.241G>A (p.Gly81Arg)_Pathogenic	Under 5 times		23322164, 23850792
SLC25A20:c.254T>A (p.Met85Lys)_Uncertain Significance#	ACADVL:c.343-3C>G (Intronic)_Uncertain Significance#	Under 5 times
SLC25A20:c.270del (p.Phe91Leufs*38)_Pathogenic	SLC25A20:c.270del (p.Phe91Leufs*38)_Pathogenic	Under 5 times		8450053, 11592821
SLC25A20:c.270del (p.Phe91Leufs*38)_Pathogenic	SLC25A20:c.804del (p.Phe269Serfs*4)_Pathogenic	Under 5 times		35360862
SLC25A20:c.326+1del (Intronic)_Pathogenic	SLC25A20:c.10C>T (p.Gln4*)_Pathogenic	Under 5 times		36109795
SLC25A20:c.326+1del (Intronic)_Pathogenic	SLC25A20:c.199-10T>G (Intronic)_Likely Pathogenic	Under 5 times		11592821, 9290607
SLC25A20:c.326+1del (Intronic)_Pathogenic	SLC25A20:c.609-3C>G (Intronic)_Pathogenic	Under 5 times		16919490
SLC25A20:c.326+1del (Intronic)_Pathogenic	SLC25A20:c.691G>C (p.Asp231His)_Pathogenic	Under 5 times		15365988
SLC25A20:c.383T>A (p.Met128Lys)_Uncertain Significance	SLC25A20:c.383T>A (p.Met128Lys)_Uncertain Significance	Under 5 times		26589311
SLC25A20:c.397C>T (p.Arg133Trp)_Pathogenic	SLC25A20:c.658G>A (p.Gly220Arg)_Uncertain Significance	Under 5 times		32905135
SLC25A20:c.397C>T (p.Arg133Trp)_Pathogenic	SLC25A20:c.718+1G>C (Intronic)_Pathogenic	Under 5 times		15365988
SLC25A20:c.397C>T (p.Arg133Trp)_Pathogenic	SLC25A20:c.752_761del (p.Asp251Glyfs*3)_Pathogenic	Under 5 times		21605995
SLC25A20:c.397C>T (p.Arg133Trp)_Pathogenic	SLC25A20:c.779_781del (p.Glu260del)_Uncertain Significance	Under 5 times		21605995
SLC25A20:c.417+1G>T (Intronic)_Pathogenic	SLC25A20:c.3G>A (Intronic)_Pathogenic	Under 5 times		23322164, 23850792
SLC25A20:c.47C>T (p.Ala16Val)_Uncertain Significance	SLC25A20:c.463T>C (p.Cys155Arg)_Likely Pathogenic	Under 5 times		31561269
SLC25A20:c.496C>T (p.Arg166*)_Pathogenic	SLC25A20:c.496C>T (p.Arg166*)_Pathogenic	Under 5 times		10384384, 12559850, 10653336
SLC25A20:c.496C>T (p.Arg166*)_Pathogenic	SLC25A20:c.528del (p.Met177Cysfs*12)_Pathogenic	Under 5 times		21605995
SLC25A20:c.50G>C (p.Gly17Ala)_Uncertain Significance	SLC25A20:c.326+1del (Intronic)_Pathogenic	Under 5 times		32070364
SLC25A20:c.532C>T (p.Arg178*)_Pathogenic	SLC25A20:c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla)_Pathogenic	Under 5 times		15365988, 25614308, 25614308
SLC25A20:c.532C>T (p.Arg178*)_Pathogenic	SLC25A20:c.532C>T (p.Arg178*)_Pathogenic	Under 5 times		12801121
SLC25A20:c.532C>T (p.Arg178*)_Pathogenic	SLC25A20:c.533G>A (p.Arg178Gln)_Pathogenic	Under 5 times		12559850
SLC25A20:c.532C>T (p.Arg178*)_Pathogenic	SLC25A20:c.94G>A (p.Asp32Asn)_Likely Pathogenic	Under 5 times		12559850
SLC25A20:c.533G>A (p.Arg178Gln)_Pathogenic	SLC25A20:c.533G>A (p.Arg178Gln)_Pathogenic	Under 5 times		12559850
SLC25A20:c.536A>G (p.Asp179Gly)_Uncertain Significance	SLC25A20:c.536A>G (p.Asp179Gly)_Uncertain Significance	Under 5 times		25614308
SLC25A20:c.576G>A (p.Trp192*)_Pathogenic	SLC25A20:c.106-2A>T (Intronic)_Pathogenic	Under 5 times		24088670
SLC25A20:c.59G>A (p.Gly20Asp)_Uncertain Significance	SLC25A20:c.59G>A (p.Gly20Asp)_Uncertain Significance	Under 5 times		25614308
SLC25A20:c.609-3C>G (Intronic)_Pathogenic	SLC25A20:c.326+1del (Intronic)_Pathogenic	Under 5 times		25604974
SLC25A20:c.609-3C>G (Intronic)_Pathogenic	SLC25A20:c.609-3C>G (Intronic)_Pathogenic	Under 5 times		16919490
SLC25A20:c.673_782del (p.Ala225Serfs*27)_Likely Pathogenic	SLC25A20:c.261_388del (p.Val88Trpfs*53)_Pathogenic	Under 5 times		9686371, 21605995
SLC25A20:c.67T>C (p.Cys23Arg)_Likely Pathogenic	SLC25A20:c.67T>C (p.Cys23Arg)_Likely Pathogenic	Under 5 times		21605995
SLC25A20:c.689C>G (p.Pro230Arg)_Likely Pathogenic	SLC25A20:c.609-1G>A (Intronic)_Pathogenic	Under 5 times		12559850
SLC25A20:c.691G>C (p.Asp231His)_Pathogenic	SLC25A20:c.65_69dup (p.Leu24Cysfs*107)_Pathogenic	Under 5 times		12559850
SLC25A20:c.713A>G (p.Gln238Arg)_Pathogenic	SLC25A20:c.713A>G (p.Gln238Arg)_Pathogenic	Under 5 times		23867825, 15057979
SLC25A20:c.715A>C (p.Thr239Pro)_Uncertain Significance	SLC25A20:c.715A>C (p.Thr239Pro)_Uncertain Significance	Under 5 times		31319225
SLC25A20:c.719-9_719-1dup (Intronic)_Uncertain Significance	SLC25A20:c.199-10T>G (Intronic)_Likely Pathogenic	Under 5 times		33194920, 31108048
SLC25A20:c.804del (p.Phe269Serfs*4)_Pathogenic	SLC25A20:c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla)_Pathogenic	Under 5 times		21605995
SLC25A20:c.804del (p.Phe269Serfs*4)_Pathogenic	SLC25A20:c.804del (p.Phe269Serfs*4)_Pathogenic	Under 5 times		12559850
SLC25A20:c.823C>T (p.Arg275*)_Pathogenic	SLC25A20:c.? (Deletion (Exons 5-9))_Pathogenic	Under 5 times		21605995
SLC25A20:c.824G>A (p.Arg275Gln)_Likely Pathogenic	SLC25A20:c.824G>A (p.Arg275Gln)_Likely Pathogenic	Under 5 times		32337051
SLC25A20:c.82G>T (p.Gly28Cys)_Pathogenic	SLC25A20:c.82G>T (p.Gly28Cys)_Pathogenic	Under 5 times		33123633, 34374989, 9544911, Show More >>
SLC25A20:c.842C>T (p.Ala281Val)_Pathogenic	SLC25A20:c.842C>T (p.Ala281Val)_Pathogenic	Under 5 times		15365988
SLC25A20:c.843+4_843+50del (Intronic)_Likely Pathogenic	SLC25A20:c.843+4_843+50del (Intronic)_Likely Pathogenic	Under 5 times		15365988, 10472533
SLC25A20:c.868G>A (p.Ala290Thr)_Uncertain Significance#	ACADVL:c.1019G>T (p.Gly340Val)_Uncertain Significance#	Under 5 times
SLC25A20:c.897dup (p.Asn300Glnfs*24)_Pathogenic	SLC25A20:c.269T>G (p.Phe90Cys)_Likely Pathogenic	Under 5 times		36109795
SLC25A20:c.897dup (p.Asn300Glnfs*24)_Pathogenic	SLC25A20:c.897dup (p.Asn300Glnfs*24)_Pathogenic	Under 5 times		11162577, 9399886

# Indicates variants where the phase is unknown, and it cannot be determined whether the variants represent a single allele. In these instances, the variant with the higher frequency is placed in the Allele 1 column for display purposes only.

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Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

Introduction

ACADVL

CPT1A

CPT2

HADHA

HADHB

SLC25A20

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