Table 5 All intronic variants (IVS) found in our group of patients
Intron | cDNA level | rs number | Allele frequency % (n = 52) |
|---|---|---|---|
7 | c.527 + 19 T > C | rs17577001 | 32.7 |
7 | c.527 + 51G > T | rs62406055 | 9.6 |
8 | c.528-99delG | 11.5 | |
8 | c.602 + 67A > G | rs3936986 | 38.5 |
12 | c.779-30C > T | 9.6 | |
16 | c.1234-10 T > A | rs4715272 | 17.3 |
19 | c.1694-32C > G | 5.8 | |
20 | c.1964 + 17G > T | rs201349527 | 1.9 |
23 | c.2407 + 50C > T | rs10948667 | 38.5 |
31 | c.3561-22A > G | 1.9 | |
32 | c.3629-32A > G | rs2499480 | 44.2 |
32 | c.5236 + 14A > G | rs12210725 | 5.8 |
49 | c.7734-4 T > C | rs7452724 | 30.8 |
52 | c.8302 + 12 T > A | rs1571084 | 48.1 |
52 | c.8302 + 18A > G | rs12529717 | 1.9 |
53 | c.8303-65C > A | 71.2 | |
53 | c.8440 + 71A > G | rs80047024 | 5.8 |
54 | c.8441-32G > C | rs3920621 | 46.2 |
56 | c.8643-72C > T | rs9370049 | 36.5 |
57 | c.8798-19A > C | rs1326605 | 75.0 |
61 | c.11174 + 11A > G | rs115072237 | 3.8 |
67 | c.11786-30C > T | rs9395699 | 15.4 |