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