Table 2. In-silico functional tool scores and predictions for the five variants validated with Sanger sequencing.

Gene	cDNA position	Amino acid and codon change	SIFT prediction	PolyPhen-2 prediction	Mutation Taster prediction	GERP prediction	CADD prediction	Condel prediction
CFAP65	c.A3151G	p.T1023A ACC⇒GCC	0; Deleterious	0.124; Benign	1; Disease causing	2,38; Conserved	18,70; Deleterious	0.763 Deleterious
RFT1	c.C1450G	p.A463G GCT⇒GGT	0.49; Tolerated	0.001; Benign	0; Neutral	2,53; Conserved	4,96; Benign	0.042 Neutral
NRXN2	c.G3008A	p.G849D GGC⇒GAC	0; Deleterious	0.973; Probably damaging	1; Disease causing	4,93; Conserved	29,50; Deleterious	0.831 Deleterious
TEP1	c.A1276G	p.Y412C TAC⇒TGC	0.51; Tolerated	0; Benign	0; Neutral	-8,29; Not conserved	0,00; Benign	0.050 Neutral
CCNF	c.G1176C	p.C363S TGC⇒TCC	0.06; Tolerated	0.939; Probably damaging	1; Disease causing	5,43; Conserved	27,30; Deleterious	0.707 Deleterious