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.489G>A 621G- >A exon 4 G to A at 621 mRNA splicing defect
c.489+1G>T 621+ 1G- >T intron 4 G to T at 621+ 1 mRNA splicing defect
c.489+2T>C 621+ 2T- >C intron 4 T to C at 621+ 2 mRNA splicing defect
c.489+2T>G 621+ 2T- >G intron 4 T to G at 621+ 2 mRNA splicing defect
c.489+3A>G 621+ 3A- >G intron 4 A to G at 621+ 3 mRNA splicing defect
c.489+31C>G 621+ 31C/G intron 4 C or G at 621+ 31 sequence variation




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The Database was last updated at Apr 25, 2011