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.

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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.3140-54_3140-649del 3272- 54del704 intron 19 deletion of 704 bp from 3272- 54 deletion of exon 17b
c.3140-42G>T 3272- 42 G/T intron 19 3272 - 42 G>T sequence variation?
c.3140-33A>G 3272- 33A/G intron 19 A or G at 3272- 33 sequence variation
c.3140-26A>G 3272- 26A- >G intron 19 A to G at 3272- 26 mRNA splicing defect?
c.3140-11A>G 3272- 11A- >G intron 19 A to G at 3272- 11 Splicing
c.3140-9A>T 3272- 9A- >T intron 19 A to T at 3272- 9 mRNA splicing defect?
c.3140-4A>G 3272- 4A- >G intron 19 A to G at 3272- 4 mRNA splicing defect?
c.3140-1G>A 3272- 1G- >A intron 19 G to A at 3272- 1 mRNA splicing defect




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The Database was last updated at Apr 25, 2011