Table 3 of
Iwanami, Mol Vis 2019; 25:766-779. Table 3 of
Iwanami, Mol Vis 2019; 25:766-779.
Table 3. Major likely pathogenic variants carried by Japanese patients with arRP and sRP.
| Name | Variant | NRCD (n=233) | Kyoto (n=199) | Total (n=432) | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Patients | % | Alleles | Patients | % | Alleles | Patients | % | Alleles | ||
| JV1 | c.4957dupA | 42 | 18 | 53 | 30 | 15.1 | 34 | 72 | 16.7 | 87 |
| p.(Ser1653Lysfs*2) | ||||||||||
| JV2 | c.8868C>A | 20 | 8.6 | 23 | 21 | 10.6 | 21 | 41 | 9.5 | 44 |
| p.(Tyr2956*) | ||||||||||
| JV3 | c.2528G>A | 32 | 13.7 | 36 | 24 | 12.1 | 26 | 56 | 13 | 62 |
| p.(Gly843Glu) | ||||||||||
| JV4 | c.6557G>A | 7 | 3 | 8 | 3 | 1.5 | 4 | 10 | 2.3 | 12 |
| p.(Gly2186Glu) | ||||||||||
| JV5 | c.6563T>C | 1 | 0.4 | 1 | 4 | 2 | 4 | 5 | 1.2 | 5 |
| p.(Ile2188Thr) | ||||||||||