. 2011 Dec 2;6(12):e27894. doi: 10.1371/journal.pone.0027894

Table 2. Potentially pathogenic variants detected by the arRP Array and the MLPA.

Family ID	Gene	Nucleotide change	Amino acid change	Novel/Reference	Control population studies (mutant/normal alleles)	Genotype
RP 76	CERKL	c.769C>T	p.R257X	[34]	-	Homozygous
RP 206	CERKL	c.769C>T	p.R257X	[34]	-	Homozygous
RP 95	CNGA1	c.1151T>C	p.I384T	Novel^†	0/200	Heterozygous
RP 29	CRB1	c.2843G>A	p.C948Y	[38]	-	Homozygous
RP 234	EYS	c.3695T>C	p.I1232T	Novel	0/200	Heterozygous
RP 234	EYS	c.1767-?_2023+?del	p.C590YfsX4	[26]	-	Heterozygous
RP 234	EYS	c.1971delT	p.S658VfsX4	[26]	-	Heterozygous
RP 109	EYS	c.5928-2A>G	-	Novel^◊	0/200	Heterozygous
RP 202	EYS	c.8003G>T	p.C2668F	Novel^*	0/200	Heterozygous
RP 96	MERTK	c.1297-2A>G	-	[39]	-	Homozygous
RP 353	PROM1	c.1532C>A	p.T520K	Novel	0/200	Heterozygous
RP 242	RHO	c.891C>T	p.S297R	[40]	-	Heterozygous
RP 322	RHO	c.1025C>T	p.T342M	[41]	-	Homozygous
RP 108	RLBP1	c.875A>T	p.T292M	Novel	0/200	Heterozygous
RP 193	RPE65	c.726-3C>A	-	Novel^◊	0/200	Heterozygous
RP 333	TULP1	c.539G>A	p.R180H	Novel^†	0/200	Heterozygous

*Disulfide Bond Alteration predicted by Dianna 1.1.

^†

Predicted as possibly damaging by Polyphen (V1).

^◊

Splicing site Mutation by Berkeley Drosophila Genome Project (BDGP) website [42], [43].