Molecular Vision: Akhtar, Mol Vis 2025; 31:206-219. Table 3

Table 3. A list of CNG channel associated gene mutations in cases of Pakistani origin (previously reported till 31st December 2024 and novel to current study).

Ser No.	Gene	Nucleotide Change	Protein Change	Variant Type	Reported phenotype	Reference
1	CNGA1	c.626-627delTA	p.(Ser209fsX26)	Frame shift	RP	[14]
2	CNGA1	c.1298G>A	p.(Gly433Asp)	Missense	RP	[35, 37]
3	CNGA1	c.1633A>T	p.(Ile545Phe)	Missense	RP	This study
4	CNGA3	c.800G>T	p.(Gly267Val)	Missense	Maculopathy/Complete ACHM	This study
5	CNGA3	c.822G>T	p.(Arg274Ser)	Missense	ACHM	[38]
					RP	[39]
6	CNGA3	c.827A>G	p.(Asn276Ser)	Missense	ACHM	[4, 33]
					CD/CRD/Incomplete ACMH	This study
7	CNGA3	c.847C>T	p.(Arg283Trp)	Missense	ACHM	[4, 37]
8	CNGA3	c.952G>A	p.(Ala318Thr)	Missense	RD	[40]
9	CNGA3	c.955T>C	p.(Cys319Arg)	Missense	Juvenile CRD with maculopathy	[18]
					IRD	[31]
					ACHM	[15]
					CRD/Maculopathy	This study
10	CNGA3	c.991G>C	p.(Gly331Arg)	Missense	ACHM	[41]
11	CNGA3	c.1279C>T	p.(Arg427Cys)	Missense	ACHM	[4]
12	CNGA3	c.1306C>T	p.(Arg436Trp)	Missense	ACHM	[15, 41, 42]
13	CNGA3	c.1315C>T	p.(Arg439Trp)	Missense	ACHM	[15]
14	CNGA3	c.1443dupC	p.(Ile482Hisfs*6)	Frame shift	IRD	[31]
15	CNGA3	c.1540G>A	p.(Asp514Asn)	Missense	ACHM	[42]
16	CNGA3	c.1556T>C	p.(Met519Thr)	Missense	IRD	[31]
17	CNGA3	c.1600G>A	p.(Gly534Arg)	Missense	IRD	[31]
18	CNGA3	c.1641C>A	p.(Phe547Leu)	Missense	IRD	[31, 32]
					CD/ACHM/BVMD	This study
19	CNGA3	c.1810C>T	p.(Gln604*)	Stop gain	CRD	This study
20	CNGB1	IVS-1G>A	p.?	Splice Site	RD	[43]
21	CNGB1	c.412-1G>A	p.?	Splice Site	RP	[39]
22	CNGB1	c.413-1G>A	p.?	Splice Site	RP	[41]
23	CNGB1	c.852_874+25del	p.(Ile286Aspfs*9)	Frame shift	RP	[31]
24	CNGB1	c.2284C>T	p.(Arg762Cys)	Missense	RP	[39]
25	CNGB1	c.2493-2_2495delinsGGC	p.(Ser831Argfs*2)	Frame shift	IRD	[44]
					CSNB	[15]
26	CNGB1	c.2493–2A>G	p.?	Splice Site	RP	[35]
27	CNGB3	c.646C>T	p.(Arg216X)	Stop gain	ACHM	[41]
					RD	[43]
28	CNGB3	c.1148delC	p.(Thr383Ilefs*13)	Frame shift	ACHM	[45]
					Progressive CD	[46]
					ACHM	[46]
29	CNGB3	c.1153T>C	p.(Trp385Arg)	Missense	CRD	This study
30	CNGB3	c.1208G>A	p.(Arg403Gln)	Missense	Progressive CD	[46]
31	CNGB3	c.1574_1575del	p.(Phe525Ter)	Stop gain	MD	[37]
32	CNGB3	c.1825delG	p.(Val609Trpfs*9)	Frame shift	ACHM	[38]
					RP	[39]