Appendix 1 of Akhtar, Mol Vis 2025; 31:206-219.


Appendix 1. Pedigrees of four families (RD001, RD025, RD028 and RP125) in which missense reported variants in CNGA3 gene were identified.

To access the data, click or select the words “Appendix 1.” Empty squares and circles show the unaffected males and females, respectively. The filled shapes show the affected individuals. The symbol labeled with a red arrow in each pedigree highlights the proband. Consanguineous unions are indicated by double lines. A) Pedigree of RD001 family showing the segregation of the CNGA3 single nucleotide substitution i.e., c.1641C>A in an autosomal recessive manner in five affected cases. B) Pedigree of RD025 family showing the segregation of CNGA3 single nucleotide substitutions i.e., c.955T>C in two affected cases. C) Pedigree of RD028 family showing the segregation of the CNGA3 single nucleotide substitution i.e., c.1641C>A; p.(Phe547Leu) in three affected individuals. D) Pedigree of RP125 family showing the segregation of variant c.827A>G in CNGA3 gene.