Table 2. Mutations found in this study.

Family #	Gene	cDNA change	Protein change	Prediction	Allele frequency	Previously described
PB15	IMPG2	c.636delA	p.Glu213ArgfsX17	deletion of the last 1012 AA	0	novel
PB74	PDE6B	c.1568T>G	p.Met523Arg	possibly damaging	0	novel
RP517	RLBP1	DelExons7–9	p.Ile176_Phe317del	deletion of the last 142 AA	nd*	[62]
RP670	NR2E3	c.364C>T	p.Arg122Cys	probably damaging	0	novel
RP854	RP1	c.3418delGG	p.Gly1140LysfsX4	deletion of the last 1013 AA	0	novel
RP1013	C2ORF71	c.403G>T	p.E135X	deletion of the last 1154 AA	0	novel
RP1324	CNGB1	c.2284C>T	p.Arg762Cys	probably damaging	0	novel
RP1361	PDE6A	c.769C>T	p.Arg257X	deletion of the last 603 AA	0.000093**	[40]
RP1625	RP1	c.1186C>T	p.Arg396X	deletion of the last 1760 AA	0.000076**	rs201493928
RP1682	RLBP1	c.488insA	p.Ile163AsnfsX1	deletion of the last 154 AA	0	novel

For each family with a positive molecular result, we indicate the name of the causative gene, the cDNA change, the protein change and its prediction, the allele frequency of the mutation, and when possible the reference of the mutation found. *nd: not determined ** based on Exome Variant Server database