Table 1.

Novel variants of the SOD1 gene found in the present study but absent in reference databases

Exon	DNA changes	Amino acid changes	Case count	Hereditary	ACMG score	Any report in the same codon from reference database	Found in ExAC or 1000G	Mutation prediction
Exon	DNA changes	Amino acid changes	Case count	Hereditary	ACMG score	Any report in the same codon from reference database	Found in ExAC or 1000G	MutationTaster	PolyPhen-2	PROVEAN
Exon 1	c.61 T > G	p.Phe21Val	1	fALS	VUS	p.Phe21Cys	neither	disease causing	probably damaging	damaging
Exon 2	c.97 T > G	p.Trp33Gly	1	sALS	VUS	none	neither	polymorphism	benign	tolerated
Exon 4	c.240G > T	p.Arg80Ser	1	fALS	VUS	none	neither	disease causing	probably damaging	damaging
Exon 4	c.256G > T	p.Gly86Cys	1	fALS	VUS	p.Gly86Arg/p.Gly86Ser	neither	disease causing	probably damaging	damaging
Exon 4	c.268_269delinsTT	p.Ala90Phe	1	fALS	VUS	p.Ala90Thr/p.Ala90Val	neither	disease causing	probably damaging	damaging
Exon 4	c.284 T > G	p.Val95Gly	1	sALS	Likely Pathogenic	p.Val95Ala	neither	disease causing	probably damaging	damaging
Exon 5	c.397G > T	p.Glu133Ter	1	sALS	Likely Pathogenic	p.Glu133Lys/ p.Glu133insTT/p.Glu133delGAA	neither	disease causing	NA	NA

ACMG, American College of Medical Genetics and Genomics. ExAC, Exome Aggregation Consortium. VUS, variant of unknown significance