Table 2 of Zhao, Mol Vis 2013; 19:1039-1046.
Gene | Exon | Nucleotide change | Codon | SNP |
---|---|---|---|---|
AIPL1 | Exon3 | c.276–10 A>C | rs12453262 | |
c.300A>G | p. L100L | rs8075035 | ||
PITPNM3 | Exon4 | IVS3+56G>T | rs11656015 | |
Exon6 | c.477C>T | p.S159S | rs145362623 | |
GUCY2D | Exon3 | c.741C>T | p.H243H | rs3829789 |
Exon10 | c.2100C>T | p.P700P | rs34598902 |