Skip to main content

Table 1 List of CFTR mutations analyzed

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