Table 5 of Aweidah, Mol Vis 2021; 27:588-600.


Table 5. The most common ACHM-causing variants in our cohort of patients.

ACHM-causing gene c. Variant p. Variant Number of families Number of patients Number of alleles
CNGA3 c.1585G>A p.V529M 17 41 76
CNGA3 c.940_942delATC p.I314del 13 33 61
CNGA3 c.1669G>A p.G557R 12 20 29
CNGB3 c.1663–1205G>A IVS14–1205G>A 12 17 24
CNGB3 c.1148delC p.T383Ifs*12 8 12 20