Table 2 of Bocquet, Mol Vis 2013; 19:2487-2500.

Table 2. Mutations found in this study

Family # Gene cDNA change Protein change Prediction Allele frequency Previously described
PB15 IMPG2 c.636delA p.Glu213ArgfsX17 deletion of the last 1012 AA 0 novel
PB74 PDE6B c.1568T>G p.Met523Arg possibly damaging 0 novel
RP517 RLBP1 DelExons7–9 p.Ile176_Phe317del deletion of the last 142 AA nd* [62]
RP670 NR2E3 c.364C>T p.Arg122Cys probably damaging 0 novel
RP854 RP1 c.3418delGG p.Gly1140LysfsX4 deletion of the last 1013 AA 0 novel
RP1013 C2ORF71 c.403G>T p.E135X deletion of the last 1154 AA 0 novel
RP1324 CNGB1 c.2284C>T p.Arg762Cys probably damaging 0 novel
RP1361 PDE6A c.769C>T p.Arg257X deletion of the last 603 AA 0.000093** [40]
RP1625 RP1 c.1186C>T p.Arg396X deletion of the last 1760 AA 0.000076** rs201493928
RP1682 RLBP1 c.488insA p.Ile163AsnfsX1 deletion of the last 154 AA 0 novel