Table 5. Frequency of RB1 variants in different tissues of Sanger heterozygous cases.
| Eye tissues | ||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient ID | Tumor | Muscle | 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%) | 1 %(seq n) | 2 %(seq n) | WM % (CI 95%) | 1 %(seq n) | 2 %(seq n) | WM % (CI 95%) | |
| 768 | 91.9 (3473) | 91.7 (1728) | 91.8a (91.1-92.3) | — | — | — | 10.1 (3024) | 11.3 (3796) | 10.8 (10.1–11.5) | 20.7 (2502) | 17.3 (1477) | 19.5 (18.3–20.7) | 4.0 (3730) | 4.2 (6090) | 4.1 (3.7–4.5) | 17.7 (2904) | 19.9 (5924) | 19.2 (18.4–20.0) |
| 762 | 100.0 (1314) | 100.0 (1199) | 100.0 (—) | 18.1 (1368) | 24.4 (1921) | 21.8 (20.4–23.2) | — | — | — | — | — | — | 22.8 (1321) | 33.1 (3966) | 30.5 (29.3–31.7) | 27.1 (1521) | 32.9 (3293) | 31.1 (29.8–32.4) |
| 704 | — | — | — | — | — | — | — | — | — | — | — | 38.1 (1523) | 35.9 (1518) | 37.0 (35.3–38.7) | 23.3 (1716) | 27.3 (1374) | 25.1 (23.6–26.3) | |
| 721 | — | — | — | — | — | — | — | — | — | — | — | — | 48.3 (1050) | 48.2 (1404) | 48.2 (46.2–50.2) | 46.9 (1208) | 49.3 (2564) | 48.5 (46.9–50.1) |
| 779 | — | — | — | — | — | — | — | — | — | — | — | — | 49.1 (1952) | 51.2 (1899) | 50.1 (48.5–51.7) | 53.1 (1780) | 50.1 (1845) | 51.6 (50.0–53.2) |
| 745 | 46.5 (5449) | 48.0 (5195) | 47.2 (46.3–48.2) | — | — | — | — | — | — | — | — | — | 49.2 (1127) | 51.4 (1940) | 50.6 (48.8–52.4) | 45.4 (1714) | 50.2 (3998) | 48.7 (47.4–50.0) |
| 777 | 93.9 (1871) | 95.0 (3330) | 94.6a (94.0–95.2) | 48.2 (1929) | 48.6 (1023) | 48.3 (46.5–50.1) | — | — | — | — | — | — | 45.3 (1742) | 50.6 (2925) | 48.6 (47.2–50.0) | 49.2 (1121) | 48.7 (2865) | 48.8 (47.3–50.4) |
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 dark grey, the weighted mean values calculated on the total of reads number of the two experiments. Highlighted in light grey, mosaic cases.
a
The fraction of normal allele detected in tumor probably depends on contamination with normal cells during scraping.