Table 2.

Notable candidate genes/alterations

Gene	RefSeq Isoform	Variant/Coordinatesa	SIFT Score (Prediction)	Polyphen2_HDIV Score (Prediction)	Polyphen2_HVAR Score (Prediction)
Mammalian Target of Rapamycin (MTOR)	NM_004958	Chr1:11190804C>T c.5395G>A p.E1799K	0.133 (Tolerated)	0.878 (Possibly Damaging)	0.463 (Possibly Damaging)
Oligophrenin-1 (OPHN1)	NM_002547	ChrX:67272394C>T c.2363G>A p.R788Q	0.130 (Tolerated)	0.995 (Probably Damaging)	0.457 (Possibly Damaging)

^aGenomic coordinates correspond to GRCh37/hg19. Note that at the genomic level, both the MTOR and the OLPHN1 variants are notated by their complementary bases. This is due to the fact that each gene is encoded by the minus strand of its respective chromosome