CFMDB Statistics


There are currently 1604 mutations listed in this CFTR mutation database.

Statistics by mutation type:

Mutation TypeCountFrequency %
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 NameCountDistribution %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.




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The Database was last updated at Mar 02, 2007