. 2015 May 6;5:9965. doi: 10.1038/srep09965

Table 2. Mutations identified in this study.

Family	Gene	RefSeq ID	Nucleotide variant	Protein variant	Polyphen	SIFT	Mutation Taster	Previously reported
MA62	RHO	NM_000539	c.448G > A	p.E150K	Probably Damaging	Deleterious	Disease causing	Yes²¹
MA94	CNGB3	NM_019098	c.646C > T	p.R216X	Probably Damaging	Deleterious	Disease causing	Yes²²
MA132	PDE6A	NM_000440	c.1408-2 A > G	Splice defect	NA	NA	NA	Yes²³
MA25	CNGA3	NM_001298	c.1306C > T	p.R436W	Probably Damaging	Deleterious	Disease causing	Yes²⁵,²⁶
MA69	CNGA3	NM_001298	c.991G > C	p.G331R	Probably Damaging	Deleterious	Disease causing	No
MA117	RPGRIP1	NM_020366	c.2656C > T	p.L886F	Damaging	Deleterious	Disease causing	No
MA97	CNGB1	NM_001297	c.413-1G > A	Splice defect	NA	NA	NA	No