Appendix 12 of Sun, Mol Vis 2020; 26:588-602.


Appendix 12. Biallelic variant types in CNGA3 in patients with ACHM and CORD.

To access the data, click or select the words “Appendix 12.” Biallelic missense variants were more common in patients with ACHM than in those with CORD, whereas missense and truncation variants and biallelic truncation variants were more common in patients with CORD than in those with ACHM. Trun, truncation variants; Mis, missense variants; ACHM, achromatopsia; CORD, cone-rod dystrophy.