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.870-2A>G 1002- 2A>G intron 7 A to G at 1002- 2 mRNA splicing defect
c.870-2A>G 1002- 2A>G intron 7 A to G at 1002- 2 mRNA splicing defect
c.1521_1523delCTT p.Phe508del [delta]F508 exon 11 deletion of 3 bp between 1652 and 1655 deletion of Phe at 508
c.3154T>G p.Phe1052Val F1052V exon 20 T to G at 3286 Phe to Val at 1052




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The Database was last updated at Apr 25, 2011