Table 2 of
Ordoñez-Labastida, Mol Vis 2023; 29:31-38. Table 2 of
Ordoñez-Labastida, Mol Vis 2023; 29:31-38.
Table 2. Most common RP- and USH2-causing variants in the USH2A gene identified in this study.
| Retinitis pigmentosa | Usher syndrome | ||||||
|---|---|---|---|---|---|---|---|
| Exon # | cDNA change | Protein change | Number of alleles (%) | Exon # | cDNA change | Protein change | Number of alleles (%) |
| 13 | c.2276G>T | p.Cys759Phe | 7 (12) | 13 | c.2299del | p.Glu767Serfs*21 | 14 (23) |
| 13 | c.2299del | p.Glu767Serfs*21 | 4 (7) | 6 | c.1000C>T | p.Arg334Trp | 6 (10) |
| 6 | c.956G>A | p.Cys319Tyr | 4 (7) | Intron 61 | c.12067–2A>G | 6 (10) | |
| 55 | c.10820A>C | p.His3607Pro | 3 (5) | 6 | c.956G>A | p.Cys319Tyr | 4 (6) |
| 63 | c.12574C>T | p.Arg4192Cys | 3 (5) | 50 | c.9799T>C | p.Cys3267Arg | 3 (5) |
| 63 | c.12575G>A | p.Arg4192His | 3 (5) | 10 | c.1841–2A>G | 3 (5) | |