Monday, February 24, 2014

CFTR most common mutations

F508del

G542X

G551D

N1303K

W1282X

R117H

R553X

1717-1G->A

621+1G->T

2789+5G->A

3849+10kbC->T

R1162X

G85E

3120+1G->A

I507del

1898+1G->A

3659delC

R347P

R560T

R334W

A455E

2184delA

711+1G->T


http://www.cftr2.org/index.php

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