SEARCH TIPS
- Search is case insensitive.
- Search term can consist of a whole word or part of a word e.g.
- Searching for "551" in the Protein Name field will retrieve all mutations that alter the protein at position 551.
- Searching for "del" in Mutation Names will retrieve all deletion mutations (but it may take awhile).
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cDNA Name
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Protein Name
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Legacy Name
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Region
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Description
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Consequence
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c.2777delT
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p.Leu926CysfsX16
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2909delT
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exon 17
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deletion of T at 2909
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frameshift
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c.2909-11_2909-5del
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3041- 11del7
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intron 17
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deletion of GTATATT at 3041- 11
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mRNA splicing mutation?
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c.2909-1G>A
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3041- 1G- >A
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intron 17
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G to A at 3041- 1
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mRNA splicing defect
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c.2909-15T>G
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3041- 15T- >G
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intron 17
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T to G at 3041- 15
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mRNA splicing mutation?
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c.2909-4A>G
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3041- 4A- >G
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intron 17
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A to G at 3041- 4
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splicing
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c.2909-51T>G
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3041- 51 T/G
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intron 17
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3041 - 51 T>G
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sequence variation?
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c.2909-92G>A
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3041- 92G/A
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intron 17
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G or A at 3041- 92
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sequence variation
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c.2909-71G>C
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3041- 71G/C
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intron 17
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G or C at 3041- 71
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sequence variation
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c.2909G>A
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p.Gly970Asp
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G970D
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exon 18
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G to A at 3041
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Gly to Asp at 970
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c.2909delG
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p.Gly970ValfsX11
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3041delG
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exon 18
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deletion of G at 3041
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frameshift
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c.2909-50C>G
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3041- 52C/G
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intron 17
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C or G at 3041- 52
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sequence variation
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c.(?_2909)_(33367_?)del
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CFTRdele16- 17b
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exon 18 - exon 20
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deletion of 7kb starting at intron 15
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large deletion from intron 15 to intron 17b
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c.54+2909_870-1620del55429insGTACTCAACAGCTCTAG
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delEx2- 6b
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exon 2 - intron 7
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185+ 2909_1002- 1620del55429ins17 ((insertion of GTACTCAACAGCTCTAG)
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The deletion of exons 2 to 6b is in frame and would lead to remove 272 residues.
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