Table 2 Characteristics of CF-causing genetic variants detected in Sri Lankan patients, annotated by CFTR2
From: Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka
Variant cDNA name (ordered 5′ to 3′) | Legacy name | Allele frequency in CFTR2 | Variant final determination | Case number |
|---|---|---|---|---|
c.1521_1523delCTT | F508del | 0.69744 | CF-causing | Case 1 Case 2 Case 4 |
c.1029delC | 1161delC | 0.00015 | CF-causing | Case 6 |
c.53 + 1G > T | 185 + 1G- > T | 0.00006 | CF-causing | Case 8 |
c.1367 T > C | V456A | 0.00019 | CF-causing | Case 9 |
c.2052_2053insA | 2184insA | 0.00232 | CF-causing | Case 10 |
c.(273 + 1_274–1)_(1679 + 1_1680–1)del | CFTRdele4–11 | 0.00002 | CF-causing | Case 10 |
c.1393-1G > A | 1525-1G- > A | 0.00051 | CF-causing | Reference [40] |