Molecular Vision: Xu, Mol Vis 2015; 21:477-486. Table 1

Table 1. The seven potential pathogenic variants from genes associated with other forms of retinal dystrophy in the five of 157 patients with retinitis pigmentosa.

Gene	Inheri-tance	Patient ID	Chromo-some	Start position	Nucleotide change	Amino acid change	State	Computational prediction				Allele frequency in			Reported
Gene	Inheri-tance	Patient ID	Chromo-some	Start position	Nucleotide change	Amino acid change	State	P/SS	SIFT	Phast Cons	GERP	1000 G ^#	Patients	NC	Reported
BBS2	AR	RP237	chr16	56536626	c.899A>G	p.D300G	Het	PoD	D	0.992	5.920	1/2184	1/314	0/384	Novel
			chr16	56530975	c.1814C>G	p.S605*	Het	-	-	1.000	5.120	1/2184	1/314	0/384	Novel
		RP240	chr16	56518732	c.2107C>T	p.R703*	Homo	-	-	0.992	5.300	NA	1/314	0/384	Deveault et al. 2011
INPP5E	AR	RP374	chr9	139327693	c.1073C>T	p.P358L	Het	PrD	D	0.955	4.870	NA	1/314	0/384	Novel
			chr9	139324862	c.1669C>T	p.R557C	Het	PrD	D	0.999	5.010	NA	1/314	0/384	Novel
CACNA1F	XL	RP401	chrX	49071594	c.3582C>G	p.Y1194*	Hemi	-	-	0.999	1.720	NA	1/205^†	0/274^‡	Novel
		RP403	chrX	49061832	c.5704-5C>G	Splicing defect	Hemi	SSA	-	0.480	3.150	NA	1/205^†	0/274^‡	Novel

Note: #, These variants were absent from the Exome Variant Server database and were evaluated in 2184 alleles of autosome from 1000 Genome database. †, In the 157 patients, 109 are male and 48 are female, and there are 205 alleles for genes on the X chromosome. ‡, In the 327 controls, 175 are male and 152 are female, and there are 479 alleles for genes on the X chromosome. The following abbreviations are used: AR, autosomal recessive; AD, autosomal dominate; XL, X-linked; P/SS, Polyphen-2/Splice Site Prediction; 1000 G, 1000 Genome; NC, normal control; Het, heterozygous; Hom, homozygous; Hemi, hemizygous; PrD, probably damaging; PoD, possibly damaging; D, damaging; SSA, splicing site abolished;, not applicable.