Table 2.

In silico analysis of novel variants

	Amino acid change			Conservation
	SIFT	Mutation Taster	PolyPhen-2	GERP	PhastCon	PhyloP
c.215A > G p.(Asp72Gly)	Deleterious 0.03	Disease causing 1.00	Possibly damaging 0.948	Conserved 5.65	Conserved 0.999	Conserved 4.839
c.362T > C p.Ile121Thr	Deleterious 0	Disease causing 1.00	Probably damaging 0.979	Conserved 6.04	Conserved 1	Conserved 5.252
c.440A > C p.Asn147Thr	Deleterious 0	Disease causing 1.00	Probably damaging 1.00	Conserved 6.040	Conserved 1	Conserved 5.253
c.697G > A p.Val233Ile	Deleterious 0	Disease causing 1.00	Probably damaging 0.999	Conserved 5.74	Conserved 1	Conserved 6.212

Prediction of pathogenicity of novel variants in RDH12.

(SIFT) Sorting Intolerant from Tolerant, (PolyPhen-2) Polymorphism Phenotyping version 2, (GERP) genomic evolutionary rate profiling.