NM_001298.3:c.1190G>T

Likely Pathogenic, Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
216900.1.1	United Arab Emirates	1	Pathogenic	Achromatopsia 2	Ahuja et al. 2008
216900.1.2	United Arab Emirates	1	Pathogenic	Achromatopsia 2	Ahuja et al. 2008	Brother of 216900.1.1
216900.1.3	United Arab Emirates	2	Pathogenic	Achromatopsia 2	Ahuja et al. 2008	First cousin, once removed, of 216900.1....
216900.1.4	United Arab Emirates	2	Pathogenic	Achromatopsia 2	Ahuja et al. 2008	First cousin, once removed, of 216900.1....
216900.1.5	United Arab Emirates	2	Pathogenic	Achromatopsia 2	Ahuja et al. 2008	First cousin, once removed, of 216900.1....
216900.5	United Arab Emirates	1	Likely Pathogenic	Achromatopsia 2	Khan. 2020