Table 3.

Mutation and molecular classification of all variants identified.

HADHA	Molecular consequence	Reported citation or patogenic classification	ACADVL	Molecular consequence	Reported citation or pathogenic classification	ACADM	Molecular consequence	Reported citation or pathogenic classification	ETFDH	Molecular consequence	Reported citation or pathogenic classification	ACADS	Molecular consequence	Reported citation or pathogenic classification	SCL22A5	Molecular consequence	Reported citation or pathogenic classification	CPT2	Molecular consequence	Reported citation or pathogenic classification
c.1528G > C p.Glu510Gln	missense	Piekutowska-Abramczuk et al. 2010 [40]	c.1269 + 1G > A	splicing donor	Hoffmann et al. 2012 [26]	c.817_829del p.Ala273Leufs*7	nonsense	Likely pathogenic, ExAC 0.00001	c.524G > A p.Arg175His	missense	Yotsumoto et al. 2008 [37]	c.625G > A p.Gly209Ser	missense	common variant known to confer susceptibility to develop SCADD, Gallant et al. 2012 [35]	c.820_821del p.Trp274Valfs*5	frameshift	Likely pathogenic, Exac -	c.338C > T p.Ser113Leu	missense	Fanin et al. 2012 [55]
			c.1096C > T p.Arg366Cys	missense	Miller et al. 2015 [29]	c.388-14A > G	splicing	Likely pathogenic, ExAC 0.00008	c.1387G > C p.Gly463Arg	missense	likely pathogenic, ExAC -	c.1054G > A p.Ala352Thr	missense	Tonin et al. 2016 [43]	c.1048_1052 + 5delCTGTGGTATG	deletion causes frameshift	Likely pathogenic, Exac -
			c.604C > G p.Leu202Val	missense	Miller et al. 2015 [29]	c.244insT	frameshift	Andresen et al. 2001 [42]	c.1448C > T p.Pro483Leu	missense	Olsen et al. 2007 [33]	c.531G > A p.Trp177*	nonsense	Tonin et al. 2016 [43]	c.254_264dupGGCTCGCCACC p.Ile89GlyfsTer45	duplication causes frameshift	Shibbani et al. 2014 [48]
			c.848 T > C p.Val283Ala	missense	Goetzman et al. 2007 [41]	c.978G > A p.Met326Ile	missense	likely pathogenic, ExAC -	c.814G > A p.Gly272Arg	missense	Chen et al. 2018 [34]	c.765G > T p.Gly255Gly	synonymous	Tonin et al. 2016 [43]	c.1396A > G p.Ser466Gly	missense	Likely pathogenic, Exac -
			c. 1500_1502del p.Leu502del	deletion	Bouvier et al. 2016 [28]	c.985A > G p.Lys329Glu	missense	Gramer et al. 2015 [30]	c.940G > A, p.Glu314Lys	missense	likely pathogenic, ExAC -	c.529 T > C p.Trp177Arg	missense	Pedersen et al. 2008 [44]	c.136C > T p.Pro46Ser	missense	Filippo et al. 2011 [49]; Rasmussen et al. 2014 [50]
						c.30 + 1G > T	splicing	ExAC -, alteration of splicing site by Alternatve Site Splicing Predictor and Human Splicing Finder softwares	c.521 T > C, p.Val174Ala	missense	likely pathogenic, ExAC -	c.988C > T p.Arg330Cys	missense	van Maldegem et al. 2006 [45]	c.394-16 T > A	splicing	Rose et al. 2012 [51]
						c.387del p.Gln130Lysfs*20	frameshift	likely pathogenic, ExAC -	c.1531G > A p.Asp511Asn	missense	Macchione et al. 2019 [22]	c.815G > A p.Arg272His	missense	van Maldegem et al. 2006 [45]	c.667_69del TTC p.Phr23del	deletion	Lamhonwah et al. 2002 [52]
						c.31-1G > A	splicing	ExAC -, alteration of splicing site by Alternatve Site Splicing Predictor and Human Splicing Finder softwares	c.560C > T p.Ala187Val	missense	Macchione et al. 2019 [22]	c.1156C > T p.Arg386Cys	missense	Merinero et al. 2006 [46]	c.254_264dup p.Ile89GlyfsX45	duplication cause premature stop codon	Wang et al. 2001 [53]
												c.136C > T p.Arg46Trp	missense	Pedersen et al. 2003 [47]	c.400C > G p.Leu134Val	missense	likely pathogenic, ExAC -
															c.338G > A p.Cys113Tyr	missense	Wang et al. 2014 [54]

Molecular consequences (synonymous, missense, nonsense, splicing) are described; for each variant the citation, if the variant was already reported in literature, or the pathogenic classification by in silico prediction analysis with Exome Aggregation Consortium (ExAC) Browser allele frequency are reported.