There are currently
2114 mutations listed in this CFTR
mutation database.
Statistics by mutation type:
Mutation Type | Count | Frequency % |
Missense
|
816
|
38.60
|
Frameshift
|
342
|
16.18
|
Splicing
|
231
|
10.93
|
Nonsense
|
177
|
8.37
|
In frame in/del
|
43
|
2.03
|
Large in/del
|
59
|
2.79
|
Promoter
|
17
|
0.80
|
Sequence variation
|
269
|
12.72
|
Unknown
|
160
|
7.57
|
Statistics by region:
Region Name | Legacy Region Name | Count | Distribution % | Density % |
promoter
|
promoter & 5'UTR
|
31
|
1.47
|
n/a
|
exon 1
|
exon 1
|
27
|
1.28
|
50.94
|
exon 2
|
exon 2
|
33
|
1.56
|
29.73
|
exon 3
|
exon 3
|
53
|
2.51
|
48.62
|
exon 4
|
exon 4
|
120
|
5.68
|
55.56
|
exon 5
|
exon 5
|
31
|
1.47
|
34.44
|
exon 6
|
exon 6a
|
51
|
2.41
|
31.10
|
exon 7
|
exon 6b
|
23
|
1.09
|
18.25
|
exon 8
|
exon 7
|
100
|
4.73
|
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
|
3.69
|
40.63
|
exon 12
|
exon 11
|
49
|
2.32
|
51.58
|
exon 13
|
exon 12
|
46
|
2.18
|
52.87
|
exon 14
|
exon 13
|
159
|
7.52
|
21.96
|
exon 15
|
exon 14a
|
35
|
1.66
|
27.13
|
exon 16
|
exon 14b
|
3
|
0.14
|
7.89
|
exon 17
|
exon 15
|
75
|
3.55
|
29.88
|
exon 18
|
exon 16
|
26
|
1.23
|
32.50
|
exon 19
|
exon 17a
|
45
|
2.13
|
29.80
|
exon 20
|
exon 17b
|
90
|
4.26
|
39.47
|
exon 21
|
exon 18
|
31
|
1.47
|
30.69
|
exon 22
|
exon 19
|
67
|
3.17
|
26.91
|
exon 23
|
exon 20
|
62
|
2.93
|
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
|
1.14
|
11.94
|
intron 1
|
intron 1
|
10
|
0.47
|
n/a
|
intron 2
|
intron 2
|
24
|
1.14
|
n/a
|
intron 3
|
intron 3
|
20
|
0.95
|
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
|
0.43
|
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
|
0.43
|
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
|