TABLE 4.
PGM CFTR Variant Coverage and Mutant Read Percentage from an Individual Harboring Two Disease-Causing CFTR Mutations
| Variant | cDNA position | Coverage | Mutant read % |
|---|---|---|---|
| G85E | c.254G > A | 237 | 0 |
| R117H | c.350G > A | 3774 | 0 |
| 621 + 1G > T | c.489 + 1G > T | 936 | 0 |
| 711 + 1G > T | c.579 + 1G > T | 2018 | 0 |
| R334W | c.1000C > T | 10,899 | 0 |
| R347P | c.1040G > C | 7720 | 0 |
| A455E | c.1364C > A | 14,525 | 0 |
| ΔI507 | c.1519_1521delATC | 8855 | 0 |
| ΔF508 | c.1521_1523delCTT | 8855 | 47 |
| 1717–1G > A | c.1585–1G > A | 2216 | 0 |
| G542X | c.1624G > T | 2035 | 41 |
| G551D | c.1652G > A | 4581 | 0 |
| R553X | c.1657C > T | 4545 | 0 |
| R560T | c.1679G > C | 4774 | 0 |
| 1898 + 1G > A | c.1766 + 1G > A | 2702 | 0 |
| 2184delAa | c.2052delA | 2837 | 18.5 |
| 2789 + 5G > A | c.2657 + 5G > A | 860 | 0 |
| 3120 + 1G > A | c.2988 + 1G > A | 4347 | 0 |
| R1162X | c.3484C > T | 12,039 | 0 |
| 3659delC | c.3528delC | 7169 | 0 |
| 3849 + 10kbC > T | c.3717 + 12191C > T | 11,588 | 0 |
| W1282X | c.3846G > A | 6187 | 0 |
| N1303K | c.3909C > G | 4479 | 0 |
aThe 2184delA variant lies in a homopolymer stretch of seven adenines and is not accurately detected as a result of homopolymer-length sequencing errors.