Table 2.

Mutations identified in these families

Family	Gene	Exon	Nucleotide mutations	Protein effect	Db SNP ID	Mutation type
1	RDH12	7	c.524C > T	p.S175L	Known	Non-synonymous
2	PRPF4	13	c.1273G > A	p.G425S	Known	Non-synonymous