Table 5.

Heterozygous variants identified in subjects with recessive disease

Subject	Dx	Gene	Nucleotide change	Protein change	dbSNP	Reference
JB200	Stargardt	ABCA4	c.2828G>A	p.Arg943Gln (probable polymorphism)	rs1801581	Briggs et al (2001)54
JB188	Stargardt	CNGB3	c.2139_2160del	p.Lys714_Gln720del (p.Lys804*in cis)	(rs151039691in cis)	Kohl et al (2005)59
JB23	LCA	KCNJ13	c.458C>T	p.Thr153Ile	rs863224884
JB189	Stargardt	PROM1	c.303+1G>A	Splice mutation	rs777673930
JB241	Cone dystrophy	PROM1	c.1623_1624del	p.Y541fs	N/A

Notes: The variant is most likely pathogenic and is consistent with the diagnosis, but we were unable to identify the second mutation. These subjects should be screened for copy number variants and intronic variants.

Abbreviations: dbSNP, database of single nucleotide polymorphisms; Dx, diagnosis; LCA, Leber’s congenital amaurosis; N/A, not applicable.