Table 1. Potential pathogenic mutations detected in 10 of the 47 families.

Family ID	Gene	Variations		Status	Bioinformation analysis				Allele frequency in		Reference
		DNA	Protein		SIFT	Polyphen-2	Splice	Phastcons _score	patients	controls
Family 1	ABCA4	c.4604dup	p.T1537Nfs*18	hetero	–	–	–	0.997	1/94	0/384	novel
Family 1	ABCA4	c.1957C>T	p.R653C	hetero	D	PD	–	1.000	1/94	NA	[38]
Family 2	CNGB3	c.1774dup	p.E592Gfs*44	homo	–	–	–	1.000	2/94	0/384	novel
Family 3	CNGB3	c.129+1G>A	–	homo	–	–	DSA	1.000	2/94	0/384	novel
Family 4	CNGB3	c.2415A>C	p.E805D	hetero	D	PD	–	1.000	1/94	NA	rs186448979#
Family 4	CNGB3	c.1957G>A	p.A653T	hetero	tolerated	benign	–	0.000	1/94	0/384	novel
Family 5	PDE6C	c.1935+1del	–	hetero	–	–	DSA	1.000	1/94	0/384	novel
Family 5	PDE6C	c.2518+5G>C	NA	hetero	–	–	DSA	0.112	1/94	0/384	novel
Family 6	PDE6C	c.1004+1G>A	–	homo	–	–	DSA	1.000	2/94	0/384	novel
Family 7	RPGRIP1	c.2592T>G	p.Y864*	hetero	–	–	–	0.994	1/94	0/384	novel
Family 7	RPGRIP1	c.799C>T	p.R267*	hetero	–	–	–	1.000	1/94	NA	[36]
Family 8	CACNA1F	c.2542G>A	p.G848S	hemi	tolerated	benign	–	1.000	1/94	0/384	novel
Family 9	RPGR	c.785C>G	p.A262G	hemi	tolerated	benign	–	0.002	1/94	NA	[39]
Family10	RPGR	c.2447_2461del	p.G816_E820del	hemi	–	–	–	NA	1/94	NA	[40]

Note: D = damaging; PD = probably damaging; DSA = donor site abolished.

^#The variation was found in 1000 Genomes database with the Global minor allele frequency (MAF) of G = 0.001/3 so that the pathogeneity of the variants in this family need to be clarified further.