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.1240_1244delCAAAA p.Asn415X 1367del5 exon 10 deletion of CAAAA at 1367 frameshift
c.1235delC p.Ala412GlufsX30 1367delC exon 10 deletion of C at 1367 frameshift
c.1367T>C p.Val456Ala V456A exon 10 T to C at 1499 Val to Ala at 456 (sequence variation?)

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The Database was last updated at Apr 25, 2011