| CFTR NGS Results | n = 54 (100) | M470V (c.1408 A > G) Genotype distribution |
n = 46 (100) | Poly T haplotype | n = 100 | |
|---|---|---|---|---|---|---|
|
c.1521_1523delCTT c.1712 T > C |
Compound Heterozygote | 1 | MM | 54% | 7 T/7 T | 62% |
|
c.1521_1523delCTT c.1408 A > G |
Compound Heterozygote | 7 | MV | 40% | 7 T/9 T | 23% |
| c.1521_1523delCTT | Heterozygote | 8 | VV | 6% | 5 T/7 T | 9% |
|
c.1712 T > C c.1408 A > G |
Compound Heterozygote | 4 | M allele frequency | 74% | 5 T/9 T | 5% |
| c.2991 G > C | Heterozygote | 3 | V allele frequency | 26% | 9 T/9 T | 1% |
|
c.2991 G > C c.1408 A > G |
Compound Heterozygote | 5 | Poly T allel frequency | |||
| c.224 G > A | Heterozygote | 4 | 5 T | 7% | ||
| c.328 G > C | Heterozygote | 1 | 7 T | 78% | ||
| c.3935 G > A | Heterozygote | 1 | 9 T | 15% | ||
| Normal Genotype | 20 |