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.1418delG p.Gly473GlufsX54 1548delG exon 11 deletion of G from 1548 - 1550 frameshift
c.4251delA p.Glu1418ArgfsX14 4382delA exon 27 deletion of A at 4382 frameshift
c.4252G>T p.Glu1418X E1418X exon 27 G to T at 4384 (GAG- >TAG) Glu to Stop at 1418

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The Database was last updated at Apr 25, 2011