Table 2. t-Test of variant frequencies for three suspected low-level mosaic RB cases against background noises from runs of three healthy controls.
| RB1 variants (ID of patient) | Blood % of RB cases (CI 95%) | Blood % of healthy controls (CI 95%) | t-Test | ||||
|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 1 | 2 | 3 | ||
| c.1215+1G>A (390) | 8.6 (7.6–9.7) | 8.5 (7.8–9.2) | 9.4 (8.8–10.0) | 0.1 (0.0–0.2) | 0.1 (0.0–0.3) | 0.0 (–) | P<0.0001 |
| c.596T>G (973/2013) | 24.4 (22.1–26.7) | 23.3 (21.4–25.2) | 25.4 (22.8–28.0) | 0.7 (0.3–1.1) | 0.5 (0.2–0.8) | 0.7 (0.3–1.1) | P<0.0001 |
| c.1735C>T (39/2013) | 24.7 (22.4–27.0) | 27.4 (25.1–29.7) | 26.5 (24.3–28.7) | 0.1 (0.0–0.2) | 0.1 (0.0–0.2) | 0.2 (0.0–0.4) | P<0.0001 |
Abbreviation: CI, confidence interval. Variant frequencies, expressed in percentages, represent the weighted mean values calculated on the number of forward and reverse reads for each sample.