TABLE 3.
PGM CFTR Variant Coverage and Mutant Read Percentage from a Pooled Mutant Library Representing All 23 ACMG/ACOG Mutations
| Variant | cDNA position | Coverage | Mutant read % | Predicted read % | Genotype |
|---|---|---|---|---|---|
| G85E | c.254G > A | 93 | 33 | 50 | Het |
| R117H | c.350G > A | 6228 | 39 | 50 | Het |
| 621 + 1G > T | c.489 + 1G > T | 1243 | 46 | 50 | Het |
| 711 + 1G > T | c.579 + 1G > T | 1352 | 29 | 50 | Het |
| R334W | c.1000C > T | 13,284 | 8 | 25 | Het |
| R347P | c.1040G > C | 9454 | 27 | 25 | Het |
| A455E | c.1364C > A | 19,527 | 43 | 50 | Het |
| ΔI507 | c.1519_1521delATC | 15,587 | 14 | 25 | Het |
| ΔF508 | c.1521_1523delCTT | 15,587 | 68 | 50 | Homo |
| 1717–1G > A | c.1585–1G > A | 3584 | 36 | 50 | Het |
| G542X | c.1624G > T | 610 | 41 | 50 | Het |
| G551D | c.1652G > A | 6714 | 16 | 17 | Het |
| R553X | c.1657C > T | 6670 | 15 | 17 | Het |
| R560T | c.1679G > C | 6395 | 22 | 17 | Het |
| 1898 + 1G > A | c.1766 + 1G > A | 3293 | 49 | 50 | Het |
| 2184delAa | c.2052delA | 2256 | 63 | 50 | Het |
| 2789 + 5G > A | c.2657 + 5G > A | 1765 | 54 | 50 | Het |
| 3120 + 1G > A | c.2988 + 1G > A | 7447 | 40 | 50 | Het |
| R1162X | c.3484C > T | 19,060 | 54 | 50 | Het |
| 3659delC | c.3528delC | 28,321 | 30 | 50 | Het |
| 3849 + 10kbC > T | c.3717 + 12191C > T | 27,102 | 46 | 50 | Het |
| W1282X | c.3846G > A | 9219 | 48 | 50 | Het |
| N1303K | c.3909C > G | 4842 | 49 | 50 | Het |
aThe 2184delA variant lies in a homopolymer stretch of seven adenines and is not accurately detected as a result of homopolymer-length sequencing errors.