Table 1. Prediction of pathogenicity of CACNA1F c.4487G>A mutation leading to p.(Gly1496Glu) change.

Variables	Prediction software	Prediction	Score
Amino-Acid change	Polyphen-2	Probably Damaging	1
	SIFT	Damaging	0
	Provean	Deleterious	−7.49
	MutationTaster	Disease causing	0.9999
Nucleotide conservation	PhyloP	Conserved	5.512
	PhastCons	Conserved	1
	GERP	Conserved	5.37