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.2487A>G L829L (2619A/G) exon 14 A or G at 2619 sequence variation
c.2619G>A 2751G- >A exon 15 G to A at 2751 mRNA splicing defect?
c.2619+3A>G 2751+ 3A- >G intron 15 A to G at 2751+ 3 mRNA splicing defect? (CBAVD)
c.2619+18_2619+23del IVS14a+ 17del5 intron 15 5 bp deletion between 2751+ 17 and 2751+ 24 sequence variation
c.2619+2T>A 2751+ 2T- >A intron 15 T to A at 2751+ 2 mRNA splicing defect

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The Database was last updated at Apr 25, 2011