Table 1.

Variants detected in > 5% of NON-RP, RP and syndromic IRD by Spanish regions.

	Spanish region	Gene	Nucleotide change	Amino acid change	Nº of alleles	Nº of total alleles of this gene found in the region	Frequency in the region
NON-RP	Basque Country	ABCA4	c.3386G > T	p.Arg1129Leu	18	93	19.40%
		ABCA4	c.5882G > A	p.Gly1961Glu	5		5.40%
	Castile-La Mancha	ABCA4	c.3386G > T	p.Arg1129Leu	8	60	13.30%
	Madrid	ABCA4	c.3386G > T	p.Arg1129Leu	47	373	12.60%
	Murcia	ABCA4	c.3386G > T	p.Arg1129Leu	8	71	11.30%
		ABCA4	c.5882G > A	p.Gly1961Glu	7		9.90%
Non-syndromic RP and syndromic IRD	Murcia	USH2A	c.2276G > T	p.Cys759Phe	11	83	13.30%
		PRCD	c.64C > T	p.Arg22Ter	6		7.20%
	Canary Islands	NR2E3	c.932G > A	p.Arg311Gln	8	83	9.60%
	Castile-La Mancha	USH2A	c.2276G > T	p.Cys759Phe	18	202	8.90%
	Madrid	USH2A	c.2276G > T	p.Cys759Phe	50	714	7.00%
	Extremadura	USH2A	c.2276G > T	p.Cys759Phe	5	87	5.70%

Regions with variants detected below this percentage are not represented in the table, and neither are regions with less than 50 mutated alleles in total or variants that were presented less than 5 times. In bold the variant which not appeared as one of the most frequent variants in Supplementary Table S6.