Table 3.

Pathogenicity predictions for the novel missense variants reported in this study.

Gene	RefSeq	Nucleotide	Protein	In Silico Pathogenicity Analysis
				MutationTaster †	PolyPhen-2 ‡	SIFT *	Cadd13 #
CEP290	NM_025114	c.1664A > T	p.(Lys555Ile)	LP	LP	P	27.8
CEP290	NM_025114	c.1092T > G	p.(Ile364Met)	LP	P	P	25.3
PRPF31	NM_015629	c.3G > A	p.(Met1Ile)	LP	B	P	23.8
RHO	NM_000539	c.560G > T	p.(Cys187Phe)	LP	P	P	24.8
USH2A	NM_206933	c.497A > G	p.(Glu166Gly)	LP	P	P	26.2
USH2A	NM_206933	c.3045C > G	p.(His1015Gln)	LP	LP	P	22.8
USH2A	NM_206933	c.6992G > A	p.(Gly2331Glu)	P	LP	P	28.9

^† http://www.mutationtaster.org/, ^‡ Polymorphism Phenotyping v2; http://genetics.bwh.harvard.edu/pph2/, * Sorting Intolerant from Tolerant; http://sift.bii.a-star.edu.sg/, ^# Combined Annotation-Dependent Depletion; http://cadd.gs.washington.edu/, Abbreviations: B, benign; LP, likely pathogenic; P, pathogenic.