BASIC TEXT SEARCH Select your search field from the pull-down menu, enter your search term in the adjacent window and click the "Submit Query" button. The "Mutation Names" search will look for a match in cDNA, protein, or legacy name. You can also search all fields by selecting "All Fields". For advanced search click on the "Advanced Search" button below.


  • 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).

cDNA Name Protein Name Legacy Name Region Description Consequence
c.3469-2A>G 3601- 2A- >G intron 21 A to G at 3601- 2 mRNA splicing defect
c.3469-65C>A 3601- 65C/A intron 21 C or A at 3601- 65 sequence variation
c.3469-17T>C 3601- 17T- >C intron 21 T to C at 3601- 17 mRNA splicing defect?
c.3469-20T>C 3601- 20T- >C intron 21 T to C at 3601- 20 mRNA splicing mutant?
c.3469-111G>C 3601- 111G/C intron 21 G or C at 3601- 111 sequence variation
c.3469-331_3469-295del37;3469-189_3717+3822del4260pb intron 21 - exon 22
c.(?_3469)_(3717_?)del5.3kb CFTRdele19 exon 22 deletion of 5.3kb, removing exon 19 ?

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The Database was last updated at Apr 25, 2011