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