From: Impact of heterozygote CFTR Mutations in COPD patients with Chronic Bronchitis
F508del | R117H | 1717-1G > A | R117C |
G85E | R334W | 1898 + 1G > A | Y122X |
A455E | R347P | 2184delA | G178R |
I507del | R553X | 2789 + 5G > A | G314E |
G542X | R560T | 3120 + 1G > A | G330X |
G551D | W1282X | 3659delC | R347H |
N1303K | 621 + 1G > T | K710X | 406-1G > A |
R1162X | 711 + 1G > T | E60X | G480C |
R1066C | W1089X | V520F | A559T |
S1196X | Q1238X | S1251N | S1255X |
663delT | 935delA | 1161delC | 1288insTA |
2184insA | 2307insA | 2711delT | 2869insG |
R709X | R764X | R1158X | 574delA |
Q493X | 1898 + 5G > T | 3905insT | I506T |
3849 + 10kbC > T | 712-1G > T | Q98R | Q552X |
S549N | 1078delT | H199Y | 444delA |
S549R (T > G) | 2143delT | P205S | 2043delG |
1811 + 1.6kbA > G | 3272-26A > G | L206W | 3791delC |
Y1092X (C > G) | 3199del6 | F508C | 2108delA |
Y1092X (C > A) | D1152H | V520I | 3667del4 |
394delTT | 3876delA | M1101K | 1677delTA |
W1098X (TGA) | 1812-1G > A | 4016insT | 1609delCA |
3171delC | Â | Â | Â |