There are currently
2120 mutations listed in this CFTR mutation database.
Statistics by mutation type:
Mutation Type |
Count |
Frequency % |
Missense |
816 |
38.49 |
Frameshift |
343 |
16.18 |
Splicing |
231 |
10.90 |
Nonsense |
178 |
8.40 |
In frame in/del |
43 |
2.03 |
Large in/del |
59 |
2.78 |
Promoter |
17 |
0.80 |
Sequence variation |
269 |
12.69 |
Unknown |
164 |
7.74 |
Statistics by region:
Region Name |
Legacy Region Name |
Count |
Distribution % |
Density % |
promoter |
promoter & 5'UTR |
31 |
1.46 |
n/a |
exon 1 |
exon 1 |
27 |
1.27 |
50.94 |
exon 2 |
exon 2 |
33 |
1.56 |
29.73 |
exon 3 |
exon 3 |
53 |
2.50 |
48.62 |
exon 4 |
exon 4 |
120 |
5.66 |
55.56 |
exon 5 |
exon 5 |
31 |
1.46 |
34.44 |
exon 6 |
exon 6a |
51 |
2.41 |
31.10 |
exon 7 |
exon 6b |
23 |
1.08 |
18.25 |
exon 8 |
exon 7 |
100 |
4.72 |
40.49 |
exon 9 |
exon 8 |
29 |
1.37 |
31.18 |
exon 10 |
exon 9 |
40 |
1.89 |
21.86 |
exon 11 |
exon 10 |
78 |
3.68 |
40.63 |
exon 12 |
exon 11 |
49 |
2.31 |
51.58 |
exon 13 |
exon 12 |
46 |
2.17 |
52.87 |
exon 14 |
exon 13 |
159 |
7.50 |
21.96 |
exon 15 |
exon 14a |
35 |
1.65 |
27.13 |
exon 16 |
exon 14b |
3 |
0.14 |
7.89 |
exon 17 |
exon 15 |
75 |
3.54 |
29.88 |
exon 18 |
exon 16 |
26 |
1.23 |
32.50 |
exon 19 |
exon 17a |
45 |
2.12 |
29.80 |
exon 20 |
exon 17b |
90 |
4.25 |
39.47 |
exon 21 |
exon 18 |
31 |
1.46 |
30.69 |
exon 22 |
exon 19 |
67 |
3.16 |
26.91 |
exon 23 |
exon 20 |
62 |
2.92 |
39.74 |
exon 24 |
exon 21 |
40 |
1.89 |
44.44 |
exon 25 |
exon 22 |
37 |
1.75 |
21.39 |
exon 26 |
exon 23 |
30 |
1.42 |
28.30 |
exon 27 |
exon 24 |
24 |
1.13 |
11.94 |
intron 1 |
intron 1 |
10 |
0.47 |
n/a |
intron 2 |
intron 2 |
24 |
1.13 |
n/a |
intron 3 |
intron 3 |
20 |
0.94 |
n/a |
intron 4 |
intron 4 |
12 |
0.57 |
n/a |
intron 5 |
intron 5 |
8 |
0.38 |
n/a |
intron 6 |
intron 6a |
11 |
0.52 |
n/a |
intron 7 |
intron 6b |
10 |
0.47 |
n/a |
intron 8 |
intron 7 |
12 |
0.57 |
n/a |
intron 9 |
intron 8 |
15 |
0.71 |
n/a |
intron 10 |
intron 9 |
11 |
0.52 |
n/a |
intron 11 |
intron 10 |
17 |
0.80 |
n/a |
intron 12 |
intron 11 |
22 |
1.04 |
n/a |
intron 13 |
intron 12 |
11 |
0.52 |
n/a |
intron 14 |
intron 13 |
10 |
0.47 |
n/a |
intron 15 |
intron 14a |
15 |
0.71 |
n/a |
intron 16 |
intron 14b |
9 |
0.42 |
n/a |
intron 17 |
intron 15 |
11 |
0.52 |
n/a |
intron 18 |
intron 16 |
15 |
0.71 |
n/a |
intron 19 |
intron 17a |
17 |
0.80 |
n/a |
intron 20 |
intron 17b |
12 |
0.57 |
n/a |
intron 21 |
intron 18 |
9 |
0.42 |
n/a |
intron 22 |
intron 19 |
13 |
0.61 |
n/a |
intron 23 |
intron 20 |
19 |
0.90 |
n/a |
intron 24 |
intron 21 |
12 |
0.57 |
n/a |
intron 25 |
intron 22 |
3 |
0.14 |
n/a |
intron 26 |
intron 23 |
12 |
0.57 |
n/a |
3'UTR |
3'UTR |
4 |
0.19 |
n/a |
mutations that overlap multiple exons or introns |
|
40 |
1.89 |
n/a |