Table 1 of
Wawrocka, Mol Vis 2014; 20:1732-1739. Table 1 of
Wawrocka, Mol Vis 2014; 20:1732-1739.
Table 1. Identified CNGA3 gene mutations.
| Patient | Mutation | Effect of mutation | Allelic state | References |
|---|---|---|---|---|
| p5 | c.829C>T (allele 1) | p.R277C | heterozygous | Wissinger et al., Am. J. Hum. Genet., 2001 |
| c.1641C>A (allele 2) | p.F547L | heterozygous | Kohl et al., Nat Genet., 1998 | |
| p6 | c.829C>T (allele 1) | p.R277C | heterozygous | Wissinger et al., Am. J. Hum. Genet., 2001 |
| c.1641C>A (allele 2) | p.F547L | heterozygous | Kohl et al., Nat Genet., 1998 | |
| p7 | c.1641C>A | p.F547L | homozygous | Kohl et al., Nat Genet., 1998 |
| p8 | c.829C>T (allele 1) | p.R277C | heterozygous | Wissinger et al., Am. J. Hum. Genet., 2001 |
| c.847C>T (allele 2) | p.R283W | heterozygous | Kohl et al., Nat Genet., 1998 | |
| p9 | c.1641C>A | p.F547L | homozygous | Kohl et al., Nat Genet., 1998 |
| p10 | c.830G>A | p.R277H | homozygous | Wissinger et al., Am. J. Hum. Genet., 2001 |