Table 2.

Novel mutations detected by semiconductor sequencing and confirmed by Sanger sequencing.

Case no.	Position	Gene	Type	Zygosity	Nucleotide substitution	Consequence	Novelty	Sanger sequencing validation	SIFT score	PolyPhen result	PhyloP score	GERP++ score
1	38279353	FGFR1	SNV	Het	C/T	Nonsynonymous	Novel	TURE	0	D	2.542	5.4
2	919955	KISS1R	SNV	Het	C/A	Nonsynonymous	Previously reported	TURE	0	D	2.099	4.6
3	38283760	FGFR1	SNV	Het	G/A	Nonsynonymous	Novel	TURE	0	D	2.737	5.78