CFMDB Statistics


There are currently 1795 mutations listed in this CFTR mutation database.

Statistics by mutation type:

Mutation TypeCountFrequency %
Missense 734 40.89
Frameshift 291 16.21
Splicing 221 12.31
Nonsense 159 8.86
In frame in/del 36 2.01
Large in/del 48 2.67
Promoter 8 0.45
Sequence variation 246 13.70
Unknown 51 2.84

Statistics by region:

Region NameCountDistribution %Density %
promoter 23 1.28 n/a
exon 1 0 0.00 0.00
exon 2 1 0.06 0.90
exon 3 52 2.90 47.71
exon 4 118 6.57 54.63
exon 5 31 1.73 34.44
exon 6a 51 2.84 31.10
exon 6b 23 1.28 18.25
exon 7 98 5.46 39.68
exon 8 29 1.62 31.18
exon 9 39 2.17 21.31
exon 10 73 4.07 38.02
exon 11 49 2.73 51.58
exon 12 44 2.45 50.57
exon 13 157 8.75 21.69
exon 14a 35 1.95 27.13
exon 14b 3 0.17 7.89
exon 15 71 3.96 28.29
exon 16 25 1.39 31.25
exon 17a 45 2.51 29.80
exon 17b 91 5.07 39.91
exon 18 31 1.73 30.69
exon 19 63 3.51 25.30
exon 20 62 3.45 39.74
exon 21 38 2.12 42.22
exon 22 36 2.01 20.81
exon 23 30 1.67 28.30
exon 24 22 1.23 10.95
intron 1 1 0.06 n/a
intron 2 0 0.00 n/a
intron 3 21 1.17 n/a
intron 4 12 0.67 n/a
intron 5 8 0.45 n/a
intron 6a 11 0.61 n/a
intron 6b 10 0.56 n/a
intron 7 12 0.67 n/a
intron 8 17 0.95 n/a
intron 9 12 0.67 n/a
intron 10 17 0.95 n/a
intron 11 21 1.17 n/a
intron 12 11 0.61 n/a
intron 13 9 0.50 n/a
intron 14a 15 0.84 n/a
intron 14b 10 0.56 n/a
intron 15 11 0.61 n/a
intron 16 15 0.84 n/a
intron 17a 17 0.95 n/a
intron 17b 12 0.67 n/a
intron 18 10 0.56 n/a
intron 19 13 0.72 n/a
intron 20 20 1.11 n/a
intron 21 10 0.56 n/a
intron 22 3 0.17 n/a
intron 23 12 0.67 n/a
intron 24 4 0.22 n/a





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The Database was last updated at Apr 01, 2010