TABLE 2.

Analysis in silico prediction.

Nucleotide	SIFT	PROVEAN	PolyPhen−2	M‐CAP	CADD
c.667G>A	0.003 Pathogenic	−1.84 Pathogenic	0.796 Possible pathogenic	0.137 Possible pathogenic	28 Pathogenic
c.1205G>A	0.001 Pathogenic	−4.56 Pathogenic	0.999 Possible pathogenic	0.530 Possible pathogenic	31 Pathogenic