| Mutation 1 |
Mutation 2 |
FEV (%) |
FVC (%) |
Chest X ray results |
Bronchodilators? |
Asthma? |
Pseudomonas infection +? |
Age at 1st Pseudomonas
infection (years) |
Other infections |
Nasal Polyps? |
Siniusitis? |
Sinus Surgery? |
Back to Main Database |
| delF508 |
P67L |
65 |
87 |
bronchiectasis |
Yes |
|
Yes |
41 |
none |
Yes |
Yes |
x2 |
Back |
| delF508 |
D110H |
77 |
82 |
bronchiectasis |
|
No |
No |
|
none |
No |
No |
none |
Back |
| delF508 |
R117C |
|
|
not done |
No |
No |
No |
|
none |
No |
No |
none |
Back |
| delF508 |
R117C |
93 |
91 |
normal |
|
No |
No |
|
none |
No |
No |
none |
|
| delF508 |
R117L |
74 |
90 |
bronchiectasis |
Yes |
Yes |
No |
|
ABPA; MRSA |
No |
No |
none |
Back |
| delF508 |
P205S |
|
|
normal |
Yes |
No |
No |
|
Staph Auress; RSV |
No |
No |
none |
Back |
| delF508 |
L206W |
|
|
not done |
No |
No |
No |
|
unknown |
No |
No |
none |
Back |
| delF508 |
I336K |
43 |
58 |
bronchiectasis and infiltrates |
Yes |
Yes |
Yes |
? |
unknown |
No |
No |
none |
Back |
| delF508 |
R352Q |
|
|
infiltrates |
Yes |
|
Yes |
11 |
none |
No |
No |
none |
Back |
| delF508 |
5T/12TG |
|
|
not done |
Yes |
No |
No |
|
none |
No |
No |
none |
Back |
| delF508 |
5T/13TG |
129 |
132 |
not done |
No |
|
No |
|
none |
No |
No |
none |
|
| delF508 |
5T/12TG |
95 |
114 |
not done |
Yes |
|
No |
|
none |
No |
Yes |
none |
|
| delF508 |
5T/12TG |
|
|
normal |
No |
|
No |
|
none |
No |
No |
none |
|
| delF508 |
D579G |
107 |
113 |
normal |
Yes |
Yes |
No |
|
none |
No |
Yes |
none |
Back |
| delF508 |
T582S |
99 |
105 |
normal |
No |
No |
No |
|
none |
No |
No |
none |
Back |
| Mutation 1 |
Mutation 2 |
FEV (%) |
FVC (%) |
Chest X ray results |
Bronchodilators? |
Asthma? |
Pseudomonas infection +? |
Age at 1st Pseudomonas
infection (years) |
Other infections |
Nasal Polyps? |
Siniusitis? |
Sinus Surgery? |
Back to Main Database |
| delF508 |
Nt2789+2insA |
93 |
98 |
normal |
Yes |
|
Yes |
24 |
none |
Yes |
Yes |
yes |
Back |
| delF508 |
Nt2789+2insA |
|
|
not done |
No |
No |
No |
|
none |
No |
No |
none |
|
| delF508 |
Nt2789+5G>A |
31 |
56 |
normal |
Yes |
No |
Yes |
41 |
none |
Yes |
No |
none |
Back |
| delF508 |
Nt2811G>T |
94 |
110 |
bronchiectasis, infiltrates |
Yes |
Yes |
Yes |
unknown |
aspergillus-ABPA |
Yes |
Yes |
unknown |
Back |
| delF508 |
V920M |
62 |
67 |
considering elective right
pneumonectomy |
Yes |
No |
No |
|
staph aureus; H.flu, MAC |
Noo |
No |
none |
Back |
| delF508 |
D993A |
|
|
normal |
Yes |
|
No |
|
none |
No |
No |
none |
Back |
| delF508 |
L967S |
52 |
60 |
normal |
|
|
No |
|
staph, aspergillis (not ABPA) |
No |
Yes |
multiple |
Back |
| delF508 |
Q996Q |
74 |
84 |
bronchiectasis, infiltrates |
Yes |
No |
Yes |
25 |
aspergillus |
No |
No |
none |
Back |
| delF508 |
L997F |
|
|
not done |
|
No |
No |
|
none |
No |
No |
none |
Back |
| delF508 |
I1027T |
39 |
60 |
abnormal |
Yes |
No |
Yes |
<29 |
unknown |
No |
No |
none |
Back |
| delF508 |
T1053I |
88 |
84 |
bronchiectasis, infiltrates |
Yes |
No |
Yes |
26 |
none |
No |
No |
none |
Back |
| delF508 |
Nt3600+1G>A |
nl |
nl |
upper lobe bronchiectasis; bilateral |
|
Yes |
Yes |
57 |
MAI |
Yes |
Yes |
x1 |
Back |
| delF508 |
R1070W |
110 |
107 |
normal |
No |
No |
No |
|
none |
No |
No |
none |
Back |
| delF508 |
S1118F |
93 |
94 |
normal |
Yes |
No |
No |
|
none |
No |
No |
none |
Back |
| delF508 |
D1152H |
43 |
75 |
bronchiectasis, blebs |
Yes |
No |
Yes |
42 |
aspergillus |
No |
No |
none |
Back |
| delF508 |
D1152H |
97 |
110 |
normal |
Yes |
No |
Mucoid |
22 |
none |
Yes |
Yes |
none |
|
| delF508 |
D1152H |
32 |
37 |
bronchiectasis, infiltrates |
Yes |
Yes |
Yes |
20 |
MAC |
No |
No |
none |
|
| delF508 |
Q1291H |
66 |
78 |
bilateral bronchiectasis; bilateral
infiltrates |
Yes |
Yes |
No |
|
ABPA |
No |
No |
none |
Back |
| delF508 |
Q1291H |
86 |
89 |
infiltrates |
Yes |
Yes |
No |
|
unknown |
No |
No |
none |
|
| Mutation 1 |
Mutation 2 |
FEV (%) |
FVC (%) |
Chest X ray results |
Bronchodilators? |
Asthma? |
Pseudomonas infection +? |
Age at 1st Pseudomonas
infection (years) |
Other infections |
Nasal Polyps? |
Siniusitis? |
Sinus Surgery? |
Back to Main Database |
| 300delA |
Nt2621+1G>A |
59.2 |
87.4 |
bronchiectasis, infiltrates |
Yes |
Yes |
Yes |
? |
none |
No |
Yes |
none |
Back |
| P67L |
R347P |
83 |
87 |
normal |
Yes |
Yes |
No |
|
staph aureus |
No |
Yes |
x2 |
Back |
| G85E |
F191V |
|
|
not done |
No |
No |
Yes |
0.6 |
none |
No |
No |
none |
Back |
| R117H |
Nt2185insA |
26 |
27 |
bronchiectasis |
Yes |
No |
Yes |
59 |
none |
No |
No |
none |
Back |
| R117H |
G103X |
75 |
81 |
normal |
No |
No |
No |
|
none |
Yes |
Yes |
x1 |
Back |
| L138ins |
Nt3272-26A>G |
104 |
96 |
normal |
No |
|
No |
|
none |
Yes |
Yes |
x1 |
Back |
| Nt909delT |
Nt3272-26A>G |
43 |
59 |
bronchiectasis, infiltrates |
Yes |
|
Yes |
25 |
Yes |
Yes |
Yes |
none |
Back |
| 5T/12TG |
G463D |
119 |
109 |
normal |
No |
No |
No |
|
none |
No |
Yes |
none |
Back |
| 5T/12TG |
F693L |
57.5 |
68.9 |
normal |
Yes |
Yes |
No |
|
none |
No |
No |
none |
Back |
| 5T/13TG |
Nt2185insA |
|
|
minimal thickening of central airways |
No |
No |
No |
|
none |
No |
Yes |
x2 |
Back |
| Mutation 1 |
Mutation 2 |
FEV (%) |
FVC (%) |
Chest X ray results |
Bronchodilators? |
Asthma? |
Pseudomonas infection +? |
Age at 1st Pseudomonas
infection (years) |
Other infections |
Nasal Polyps? |
Siniusitis? |
Sinus Surgery? |
Back to Main Database |
| delI507 |
R117C |
178 |
98 |
normal |
Yes |
No |
No |
|
none |
No |
Yes |
none |
Back |
| delI507 |
R117C |
|
|
not done |
No |
No |
No |
|
none |
No |
Yes |
none |
|
| G542X |
R1162L |
70 |
88 |
peribronchial cuffing; no atalectasis |
Yes |
|
No |
|
none |
No |
No |
none |
Back |
| Nt2789+5G>A |
L1007P |
73 |
81 |
bronchiectasis, infiltrates |
Yes |
Yes |
Yes |
33 |
none |
No |
Yes |
none |
Back |
| Nt3272-26A>G |
Nt3272-26A>G |
75.6 |
82 |
bronchiectasis |
Yes |
Yes |
No |
|
staph aureus |
Yes |
Yes |
x6 |
Back |
| Nt3272-26A>G |
Nt3272-26A>G |
102 |
92 |
normal |
Yes |
Yes |
No |
|
staph aureus |
No |
No |
none |
|
| A1067V |
S1235R |
|
|
infiltrates |
Yes |
Yes |
No |
|
none |
No |
Yes |
none |
Back |
| D1152H |
W1282X |
93 |
98 |
bronchiectasis |
Yes |
|
No |
|
none |
No |
No |
none |
Back |
| Nt3600+2insT |
Nt3272-26A>G |
98 |
120 |
not done |
No |
No |
No |
|
none |
Yes |
Yes |
yes |
Back |
| Nt3849+10kbC>T |
Nt3849+10kbC>T |
57 |
73 |
bronchiectasis, infiltrates |
Yes |
|
Yes |
? |
none |
No |
No |
none |
Back |