Molecular Vision: Akhtar, Mol Vis 2025; 31:555-567. Table 3

Table 3. A list of ABCA4 variants previously reported and identified in this study (those identified for the first time in this study are highlighted as red) in cases of Pakistani decent along with disease sub type.

Sr. No.	Exon	Nucleotide Change	Protein Change	Variant Type	Familial/ Sporadic	No of Alleles	Onset Age	Disease	Reference
1	3	c.214G>A	p. (Gly72Arg)	Missense	Familial	2	8 years	STGD	This study
						19	NA	MD	[23]
						NA	NA	IRD	[24]
2	19	c.2790C>A	p. (Cys930*)	Stop gain	Familial	2	By birth	STGD	This study
3	21	c.3081T>G	p. (Tyr1027*)	Stop gain	Familial	1	NA	MD	[23]
4	23	c.3364G>A	p. (Glu1122Lys)	Missense	Familial	2	NA	STGD	[25]
5	42	c.5882G>A	p. (Gly1961Glu)	Missense	Familial	2	2 years	IRD	[26]
5	42	c.5882G>A	p. (Gly1961Glu)	Missense	Sporadic	1	2^nd decade	IRD	[27]
6	44	c.6088C>T	p. (Arg2030*)	Stop gain	Familial	2	By birth	STGD	This study
7	45	c.6218G>C	p. (Gly2073Ala)	Missense	Familial	1	By birth	RP	This study
8	48	c.6658C>T	p. (Gln2220*)	Stop gain	Familial	5	By birth	STGD	This study
						4	By birth	RP	This study
						2	10–15 years	RP	[28]
9	Intron 48	c.6729+5_6729+19del	p.?	Splice Site	Familial	2	By birth	RP	This study
					Familial	NA	NA	IRD	[24]
					Sporadic	2	30 years	CRD	[29]
10	Intron 8	c.1099+5G>A	p.?	Splice Site	Familial	1	By birth	RP	This study
11	2	c.91T>C	p. (Trp31Arg)	Missense	Sporadic	2	1^st decade	IRD	[27]
12	14	c.2023G>A	p. (Val675Ile)	Missense	Sporadic	1	5^th decade	IRD	[27]
13	37	c.5243G>A	p. (Gly1748Glu)	Missense	Sporadic	1	2^nd decade	IRD	[27]
14	40	c.5646G>A	p. (Met1882Ile)	Missense	Sporadic	1	5^th decade	IRD	[27]
15	44	c.6098T>A	p. (Leu2033His	Missense	Sporadic	1	2^nd decade	IRD	[27]
16	46	c.6317G>A	p. (Arg2106His)	Missense	Sporadic	1	2^nd decade	IRD	[27]