Table 1.

ABCA4 deep intronic variants investigated in this study

Gene	Chromosome	Variant	HGVS DNA reference	HGVS protein reference	Variant type	Predicted effect on splicing	dbSNP	Genotype
ABCA4	1:94496509	c.4253+43G>A	G	Noncoding	Substitution	None	rs61754045	100% heterozygous
ABCA4	1:94484082	c.5196+1056A>G	A	Noncoding	Substitution	Activates cryptic donor site	rs886044749	100% heterozygous
ABCA4	1:94471747	c.6006-609T>A	T	Noncoding	Substitution	None	rs575968112	100% heterozygous