TABLE 2.

Genetic profile of the TBK1 variants identified in this study.

Location	Nucleoid changes	Amino acids changes	Protein domain	dbSNP/novel	1,000 genome	ExAC	Evolutionary conservation	SIFT score	PolyPhen-2	Mutation Taster	ACMG
Exon 3	c.109A > C	p. Ile37Leu	KD	Novel	0	0	No	0.008 (damaging)	0.006 (benign)	0.797 (disease causing)	VUS
Exon 10	c.1192T > C	p. Ser398Pro	ULD-CCD1	rs781434264	0	0	No	0.15 (tolerable)	0.261 (benign)	0.549 (polymorphism)	Likely benign
Exon 19	c.2029T > A	p. Tyr677Asn	CCD2	rs1163013930	0	0	Yes	0.279 (tolerable)	0.084 (benign)	1.0 (disease causing)	VUS
Intron 13	c.1522-3T > G	p.Leu508PhefsTer63/ p.Leu508SerfsTer8 /p.Leu508PhefsTer2	-	Novel	-	-	-	-	-		-
Intron 19	c.2066 + 4A > G	p.Leu654TyrfsTer12	-	Novel	-	-	-	-	-	-	-

VUS, Variant of uncertain significance.