Mutation Type
|
Count
|
Frequency, %
|
| Missense |
643 |
41.81 |
| Frameshift |
242 |
15.73 |
| Splicing |
196 |
12.74 |
| Nonsense |
149 |
9.69 |
| In frame in/del |
31 |
2.02 |
| Large in/del |
42 |
2.73 |
| Promoter |
8 |
0.52 |
Sequence variation
|
225
|
14.63
|
|
| Abbreviation: in/del, insertion/deletion. |
| aSource of data: Cystic Fibrosis Genetic
Analysis Consortium, 2007. |
|