Table 3. RD3 Changes of uncertain pathogenicity.

Position	Mutation type	Mutation	Predicted effect on protein	Conservation of the mutant aa	Predicted effect (SIFT, Polyphen-2, AlignGCVD)	Remarks
Exon 2	Missense	c.146A>T	p.N49I	Low	Deleterious	1/200 patient (European descent, single heterozygosity)