Table 1.

FUS/TBK1 double-mutant index patients previously described and discovered in this study (AF according to GnomAD)

Pat	ALS type	FUS variant		Variation	AF	Evaluation	TBK1 variant		Variation	AF	Evaluation	Reference
		cDNA	Protein				cDNA	Protein
A	FALS	c.1540A > G	p.R514G	Missense	0	Pathogenic	c.1328_1331del	p.I443Nfs*3	LoF	0	Pathogenic	This study
B	FALS	c.1570A > G	p.R524G	Missense	0	Pathogenic	c.555 T > A	p.Y185*	LoF	0	Pathogenic	[8, 11]
C	FALS	c.1562G > A	p.R521H	Missense	4E-06	Pathogenic	c.1522C > A	p.L508I	Missense	0.00078	Likely not pathogenic	This study
D	FALS	c.1561C > T	p.R521C	Missense	1E-05	Pathogenic	c.1073G > A	p.R358H	Missense	6.4E-05	Likely not pathogenic	[13]
E	SALS	c.*59G > A	-		4E-06	VUS, but experimental evidence for pathogenicity	c.1445_1446delAT	p.Y482*	LoF	0	VUS	[12]
F	SALS	c.*1998 T > C	-		0.002	VUS	c.2170C > T	p.R724C	Missense	6E-05	VUS, but experimental evidence for pathogenicity	[12]
G	SALS	c.*816delG	-		0	VUS	c.352G > A	p.D118N	Missense	4.2E-06	VUS	[12, 16]