There are currently
1604 mutations listed in this CFTR
mutation database.
Statistics by mutation type:
| Mutation Type | Count | Frequency % |
|
Missense
|
667
|
41.58
|
|
Frameshift
|
258
|
16.08
|
|
Splicing
|
203
|
12.66
|
|
Nonsense
|
153
|
9.54
|
|
In frame in/del
|
32
|
2.00
|
|
Large in/del
|
45
|
2.81
|
|
Promotor
|
8
|
0.50
|
|
Sequence variation
|
236
|
14.71
|
Statistics by region:
| Region Name | Count | Distribution % | Density % |
|
promotor
|
16
|
1.00
|
n/a
|
|
5'UTR and exon 1
|
29
|
1.81
|
15.68
|
|
exon 2
|
29
|
1.81
|
26.13
|
|
exon 3
|
46
|
2.87
|
42.20
|
|
exon 4
|
109
|
6.80
|
50.46
|
|
exon 5
|
28
|
1.75
|
31.11
|
|
exon 6a
|
43
|
2.68
|
26.22
|
|
exon 6b
|
20
|
1.25
|
15.87
|
|
exon 7
|
92
|
5.74
|
37.25
|
|
exon 8
|
28
|
1.75
|
30.11
|
|
exon 9
|
28
|
1.75
|
15.30
|
|
exon 10
|
70
|
4.36
|
36.46
|
|
exon 11
|
43
|
2.68
|
45.26
|
|
exon 12
|
41
|
2.56
|
47.13
|
|
exon 13
|
147
|
9.16
|
20.30
|
|
exon 14a
|
32
|
2.00
|
24.81
|
|
exon 14b
|
2
|
0.12
|
5.26
|
|
exon 15
|
63
|
3.93
|
25.10
|
|
exon 16
|
21
|
1.31
|
26.25
|
|
exon 17a
|
42
|
2.62
|
27.81
|
|
exon 17b
|
82
|
5.11
|
35.96
|
|
exon 18
|
30
|
1.87
|
29.70
|
|
exon 19
|
57
|
3.55
|
22.89
|
|
exon 20
|
51
|
3.18
|
32.69
|
|
exon 21
|
32
|
2.00
|
35.56
|
|
exon 22
|
29
|
1.81
|
16.76
|
|
exon 23
|
26
|
1.62
|
24.53
|
|
exon 24
|
20
|
1.25
|
9.95
|
|
intron 1
|
4
|
0.25
|
n/a
|
|
intron 2
|
22
|
1.37
|
n/a
|
|
intron 3
|
18
|
1.12
|
n/a
|
|
intron 4
|
12
|
0.75
|
n/a
|
|
intron 5
|
8
|
0.50
|
n/a
|
|
intron 6a
|
8
|
0.50
|
n/a
|
|
intron 6b
|
8
|
0.50
|
n/a
|
|
intron 7
|
10
|
0.62
|
n/a
|
|
intron 8
|
15
|
0.94
|
n/a
|
|
intron 9
|
11
|
0.69
|
n/a
|
|
intron 10
|
17
|
1.06
|
n/a
|
|
intron 11
|
15
|
0.94
|
n/a
|
|
intron 12
|
10
|
0.62
|
n/a
|
|
intron 13
|
7
|
0.44
|
n/a
|
|
intron 14a
|
11
|
0.69
|
n/a
|
|
intron 14b
|
9
|
0.56
|
n/a
|
|
intron 15
|
10
|
0.62
|
n/a
|
|
intron 16
|
10
|
0.62
|
n/a
|
|
intron 17a
|
15
|
0.94
|
n/a
|
|
intron 17b
|
12
|
0.75
|
n/a
|
|
intron 18
|
9
|
0.56
|
n/a
|
|
intron 19
|
11
|
0.69
|
n/a
|
|
intron 20
|
17
|
1.06
|
n/a
|
|
intron 21
|
7
|
0.44
|
n/a
|
|
intron 22
|
2
|
0.12
|
n/a
|
|
intron 23
|
10
|
0.62
|
n/a
|
|
intron 24
|
4
|
0.25
|
n/a
|
* If you would like to get the mutation list for each type or each region, please choose the "Advanced Text Search" feature in "Search" menu.