Table 1.

In silico prediction of identified variants in SYNJ1, VPS13C, and DNAJ6 genes (predicted to be damaging are indicated by the values written in BOLD)

Gene	Nucleotide variant	Amino Acid change	SIFT score	PolyPhen-2 score	Mutation Taser score	FATHMM score	Provean PRED	MetaSVM score	MetaLR score	Mutation Assessor score
SYNJI	c. 1827_1828insT	p.Leu610SerfsTer22	NA	NA	NA	NA	NA	NA	NA	NA
	c. 1943A >T	P.Lys648Met	0.001	1.00	1.00	1.43	-4.64	-0.7712	0.1904	2.22
VPS13C	c. 5891delA	p.Asn1964MetfsTer26	NA	NA	NA	NA	NA	NA	NA	NA
	c. 5888A >C	P.His1963Pro	0.021	0.891	0.999	0.91	-3.12	-0.7471	0.1979	2.76
DNAJC6	c. 2032_2033insA	p.Val678AspfsTer5	NA	NA	NA	NA	NA	NA	NA	NA
	c. 2033T >G	P.Val678Gly	0.21	0.359	1.00	-3.17	-0.83	0.1398	0.6157	2.08