Table 2.
Description and frequencies of reads and haplotypes of the insertions, deletions or combinations of both, identified in more than 10% of the 50 patients studied.
| ID | Deletions | Insertions | N Patients (%) | Median % Reads/Patient (IQR) | Median % HPL/Patient (IQR) |
|---|---|---|---|---|---|
| 11 | 1646 | - | 6 (12) | 0.5 (0.4–0.6) | 6.5 (2.8–10.4) |
| 30 | 1692 | 1697TT | 6 (12) | 0.5 (0.4–0.6) | 7.5 (6.1–14.6) |
| 37 | - | 1739G | 9 (18) | 0.3 (0.3–0.5) | 8.3 (7.1–14.3) |
| 38 | - | 1746G/T | 7 (14) | 0.4 (0.3–0.4) | 10 (6.7–12.7) |
| 40 | 1749 | - | 7 (14) | 0.4 (0.3–0.5) | 6.7 (5.2–11.3) |
| 51 | 1763–1770 | - | 10 (20) | 1.7 (0.9–2.1) | 5.5 (3.0–8.2) |
| 59 | - | 1781C | 5 (10) | 0.6 (0.6–0.7) | 8.3 (4.8–8.3) |
| 74 | - | 1820C | 7 (14) | 0.4 (0.4–0.9) | 4.3 (1.9–4.8) |
| 84 | - | 1825T | 19 (38) | 1.5 (0.7–2.1) | 4.8 (2.8–6.9) |
| 85 | 1825 | - | 10 (20) | 0.4 (0.4–0.8) | 4.1 (2.8–5.1) |
| 88 | - | 1826C/T | 9 (18) | 0.6 (0.4–0.9) | 4.8 (2.6–8.3) |
| 103 | - | 1838A | 5 (10) | 1.2 (0.9–2.7) | 2.3 (2.2–5.9) |
Abbreviations: ID indicates code to identify single insertion or deletion, or combinations of them (see Table S3); N, number; IQR, interquartile range; HPL, haplotypes.