Table 4. t-Test of variant frequencies of RB cases against frequencies of heterozygous controls.

		Blood % of RB cases (CI 95%)				Blood % of heterozygous controls (CI 95%)
Amplicon	Variant (patient ID)	1	2	3	Variant (control ID)	1	2	3	t-Test
11	c.1050-1G>C (721)	45.5 (43.0–48.1)	50.1 (48.0–52.2)	49.7 (47.8–51.6)	c.1072C>T (1)	50.6 (48.9–52.4)	51.1 (49.5–52.7)	51.1 (49.6–52.6)	P>0.05*
14	c.1363C>T (745)	48.8 (46.8–50.8)	49.9 (47.5–52.3)	49.9 (46.9–51.0)	c.1363C>T (2)	50.3 (48.2–52.4)	50.2 (48.3–52.2)	51.4 (49.5–53.3)	P>0.05
14	c.1363C>T (777)	50.5 (48.2–52.8)	48.1 (46.1–50.1)	50.9 (49.3–52.3)	c.1363C>T (3)	50.3 (48.2–52.4)	50.2 (48.3–52.2)	51.4 (49.5–53.3)	P>0.05
15–16	c.1498+5del (714)	48.8 (47.9–49.7)	45.3 (42.4–48.3)	45.8 (43.1–48.6)	c.1399C>T (4)	49.9 (47.0–52.8)	49.7 (47–52.4)	48.9 (46.2–51.6)	P>0.05
17	c.1644dup (795)	44.2 (42.2–46.3)	49.3 (46.2–52.4)	46.6 (44.2–49.1)	c.1666C>T (5)	48.0 (45.9–50.1)	50.5 (48.4–52.4)	48.6 (46.2–51.0)	P>0.05
17	c.1666C>T (704)	45.6 (44.3–47.0)	45.9 (43.3–48.5)	45.9 (43.4–48.5)	c.1666C>T (5)	48.0 (45.9–50.1)	50.5 (48.4–52.4)	48.6 (46.2–51.0)	P=0.0480*
21	c.2211+2dup (567/2013)	52.7 (49.6–55.8)	51.8 (49.0–54.6)	48.3 (46.0–50.6)	c.2173_2174insT (6)	51.7 (49.5–53.9)	49.7 (47.8–51.6)	48.7 (46.8–50.6)	P>0.05
22	c.2212-1G>T (762)	37.6 (35.2–40.1)	34.0 (31.7–36.3)	32.7 (29.9–35.4)	c.2325+1G>A (7)	45.4 (43.6–47.3)	48.9 (46.9–50.9)	49.8 (47.7–51.9)	P=0.0026

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. Each amplicon has been sequenced three times (1, 2, 3). The Fisher Snedecor F-test was performed to assess the equality of variance. If variances were not equal, the Satterthwaite's approximate t-test was used (*). Highlighted in grey, mosaic cases.