Table 3. Frequencies of RB1 variants in additional tissues of Sanger mutation-negative cases.
| Eye tissues | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient ID | Retina | Sclera | Oral mucosa | Urine | ||||||||
| 1 (seq n) | 2 (seq n) | WM (CI 95%) | 1 (seq n) | 2 (seq n) | WM (CI 95%) | 1 (seq n) | 2 (seq n) | WM (CI 95%) | 1 (seq n) | 2 (seq n) | WM (CI 95%) | |
| 390 | — | — | — | — | — | — | 12.7 (1611) | 11.2 (1680) | 11.9 (10.8–13.0) | 11.4 (1532) | 13.5 (1549) | 12.4 (11.2–13.6) |
| 973/2013 | — | — | — | — | — | — | 16.8 (1914) | 18.8 (2800) | 18.0 (16.9–19.1) | 23.8 (1584) | 25.6 (1074) | 24.5 (22.9–26.1) |
| 39/2013 | 6.2 (3064) | 4.9 (1904) | 5.7 (5.1–6.3) | 3.4 (2663) | 4.1 (4177) | 3.8 (3.4–4.3) | 1.0 (1050) | 1.2 (1551) | 1.2 (0.8–1.6) | 6.8 (1081) | 7.8 (2397) | 7.5 (6.6–8.4) |
Abbreviations: CI, confidence interval; WM, weighted mean. Variant frequencies, expressed in percentages, represent the weighted mean values calculated on the number of forward and reverse reads. Each amplicon has been sequenced twice (1, 2). Highlighted in grey, the weighted mean values calculated on the total of reads number of the two experiments.