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:


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).


cDNA Name Protein Name Legacy Name Region Description Consequence
c.1210-2A>C 1342- 2A- >C intron 9 A to C at 1342- 2 mRNA splicing defect
c.3276C>A p.Tyr1092X Y1092X(C- >A) exon 20 C to A at 3408 Tyr to Stop at 1092
c.3276C>G p.Tyr1092X Y1092X(C- >G) exon 20 C to G at 3408 Tyr to Stop at 1092
c.3484C>T p.Arg1162X R1162X exon 22 C to T at 3616 Arg to Stop at 1162
c.3605delA p.Asp1202AlafsX9 3737delA exon 22 deletion of A at 3737 frameshift
c.(?_2620)_(3468_?)del CFTRdele14b- 18 exon 16 - exon 21 deletion of 20 kb from exons 14b through 18 deletion of amino acids 874-1156




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The Database was last updated at Apr 25, 2011