CFMDB Statistics


There are currently 2114 mutations listed in this CFTR mutation database.

Statistics by mutation type:

Mutation TypeCountFrequency %
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 NameLegacy Region NameCountDistribution %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





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The Database was last updated at Apr 25, 2011