Table 3 Participants with two CF-causing variants
Ancestry | Variant1 | Variant2 | Number of variant | Predicted phenotype | CFTR2 participants [n] |
|---|---|---|---|---|---|
EUR | L206W | R553X | 1 | Pancreatic sufficient | 3 |
L206W | S945L | 1 | Pancreatic sufficient | 0 | |
R851X | F508del | 1 | Pancreatic insufficient | 16 | |
R1066H | F508del | 1 | Pancreatic sufficient | 56 | |
R1066H | 1154insTC | 1 | Pancreatic sufficient | 0 | |
P67L | G551D | 1 | Pancreatic sufficient | 12 | |
P67L | F508del | 1 | Pancreatic sufficient | 186 | |
711 + 3A- > G | F508del | 1 | Pancreatic sufficient | 42 | |
F508del | F508del | 1 | Pancreatic insufficient | 33,984 | |
MIX | F508del | D110H | 2 | Pancreatic sufficient | 34 |
F508del | L206W | 1 | Pancreatic sufficient | 235 | |
F508del | F508del | 1 | Pancreatic insufficient | 33,984 | |
3600G- > A | F508del | 1 | Pancreatic sufficient | 15 | |
E474K | F508del | 1 | Pancreatic sufficient | 3 | |
CSA | V456A | V456A | 1 | Pancreatic sufficient | 2 |