Table 1.

ABCA4 Mutations in Patients with CRD

	ABCA4 Allele 1		ABCA4 Allele 2
Patient	Nucleotide Change	Effect	Nucleotide Change	Effect	Origin
16	AAC 286 GAC	N96D	—	—	France
52	ATC 466 GTC	I156V	—	—	North Africa
57	ATC 466 GTC	I156V	GGG 1819 AGG	G607R	North Africa
51	CGA 455 CAA 5084+1G/A	R152Q Frameshift	CGC 3323 TGC AGT 6764 ATT	R1108C S2256I	France
11	CGT 764 TGT	R255C	—	—	France
41	GCC 3113 GTC	A1038V	—	—	France
60	CTG 3602 CGG	L1201R	AGT 6764 ATT	S2256I	South Africa
21	CTC 5908 TTC	L1970F	—	—	France
30	AGT 6764 ATT	S2256I	—	—	Africa
48	GAA 3259 TAA	E1087X	—	—	France
2	2617 del CT	Frameshift	2617 del CT	Frameshift	Portugal
5	571-2A/G	Frameshift	571-2A/G	Frameshift	Morocco
61	CGG 4918 TGG	R1602W	GGC 5929 AGC	G1977S	England