Table 2. Candidate variants identified from whole-exome sequencing in the cataract family.

Gene	SNP ID	Chromosome position (bp; hg19)	cDNA change	Amino acid change	MAF(gnomAD)	PolyPhen	GERP	CADD
PIKFYVE	rs771244880	chr2:209217490	c.5828G>A	p.G1943E	0.00002	0.999	5.09	26.00
NPHS1	rs114849139	chr19:36330456	c.2869C>G	p.V957L	0.001	0.987	4.27	14.34
FPR1	rs78488639	chr19:52249959	c.289G>T	p.L97M	0.008	0.795	2.55	10.70

MAF: minor allele frequency; gnomAD: genome aggregation database; PolyPhen: polymorphism phenotyping; GERP: evidence of evolutionary conservation; CADD: combined annotation dependent depletion.