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.713C>T p.Ala238Val A238V exon 6 C to T at 845 Ala to Val at 238
c.1581A>G 1713A/G exon 11 A or G at 1713 sequence variation
c.1713_1714delAG p.Asp572LeufsX16 1845delAG/1846delGA exon 13 deletion of AG at 1845 or GA at 1846 frameshift
c.3713A>G p.Gln1238Arg Q1238R exon 22 A to G at 3845 Gln to Arg at 1238

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The Database was last updated at Apr 25, 2011