Table 2 of Kim, Mol Vis 2011; 17:844-853. Table 2 of Kim, Mol Vis 2011; 17:844-853.
Table 2. Mutation screening of the RHO gene.
| Location | Nucleotide | Protein | Patient | Control | Note | Reference |
|---|---|---|---|---|---|---|
| Pathogenic | ||||||
| Exon 1 | c.50C>T | p.Thr17Met | 1/604 | 0/228 | Reported | [30] |
| Exon 3 | c.533A>G | p.Tyr178Cys | 1/604 | 0/228 | Reported | [9] |
| Exon 4 | c.888G>T | p.Lys296Asn | 1/604 | 0/228 | Reported | [31] |
| Exon 4 | c.893C>A | p.Ala298Asp | 1/604 | 0/228 | Novel | |
| Exon 5 | c.1040C>T | p.Pro347Leu | 2/604 | 0/228 | Reported | [5] |
| Benign | ||||||
| Intron 3 | c.696+4C>T | 28/604 | 11/228 | Reported | rs56340615 | |
| Exon 4 | c.891C>T | p.Ser297Ser | 5/604 | 2/228 | Reported | [31] |
| Intron 4 | c.937–23G>A | 172/604 | 58/228 | Reported | rs2071092 | |