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.3873G>C p.Gln1291His Q1291H exon 23 G to C at 4005 Gln to His at 1291; mRNA splicing defect (?)
c.3873+1G>A 4005+ 1G- >A intron 23 G to A at 4005+ 1 mRNA splicing defect
c.3873+23delA 4005+ 23delA intron 23 Deletion of A at 4005+ 23 Sequence variation? mRNA splicing defect?
c.3873+29G>C 4005+ 29G- >C intron 23 G to C at 4005+ 29 Splicing
c.3873+2T>C 4005+ 2T- >C intron 23 T to C at 4005+ 2 mRNA splicing defect
c.3873+33A>G 4005+ 33A- >G intron 23 A to G at 4005+ 33 Splicing
c.3873+117T>G 4005+ 117T/G intron 23 T or G at 4005+ 117 sequence variation
c.3873+121T[6_8] 4005+ 121delTT intron 23 8T or 6T at 4005+ 121 sequence variation
c.3873+3G>T 4005+ 3G>T intron 23 4005+ 3G>T

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The Database was last updated at Apr 25, 2011