Table 3 of Gandra, Mol Vis 2008; 14:1105-1113.
Gene | Variations | Location | Frequency |
RHO | c.232+4C/T | Intronic | 3^ 1* 2$ |
–26 A/G | Intronic | 1^ 1* 2$ | |
PRPF31 | c.238+93T/C | Intronic | 4^ 2* 3$ |
c.322+21G/A | Intronic | 3^ -* 1$ | |
c.420+81T/C | Intronic | 12^ 8* 6$ | |
c.420+82C/G | Intronic | 9^ 14* 4$ | |
c.499+55G/A | Intronic | 1^ -* 2$ | |
RP1 | p. Arg 872 His | Intronic | 27^ 20* 14$ |
IMPDH1 | c.383+33C/T | Intronic | 1^ 1* 1$ |
c.383+54delG | Intronic | 3^ 1* 2$ | |
p.Leu244Leu | Coding | 13^ 7* 5$ | |
p.Gln427Gln | Coding | 5^ 1* 2$ | |
p.Ala440Ala | Coding | 1^ -* 1$ |