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.350G>A p.Arg117His R117H exon 4 G to A at 482 Arg to His at 117
c.350G>C p.Arg117Pro R117P exon 4 G to C at 482 Arg to Pro at 117
c.350G>T p.Arg117Leu R117L exon 4 G to T at 482 Arg to Leu at 117
c.3368-140A>C 3500- 140A/C intron 20 A or C at 3500- 140 sequence variation
c.3368-50A>C 3500- 50 A/C intron 20 3500 - 50 A>C sequence variation?
c.3368-44G>A 3500- 44G/A intron 20 G or A at 3500- 44 sequence variation?
c.3368-2A>G 3500- 2A- >G intron 20 A to G at 3500- 2 mRNA splicing defect
c.3368-1G>A 3500 - 1 G to A intron 20 3500 - 1 G>A mRNA splicing defect
c.3503A>G p.Asp1168Gly D1168G exon 22 A to G at 3635 Asp to Gly at 1168
c.3504C>T 3636 C/T exon 22 C to T at 3636 sequence variation (Asp at 1168 no change)

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The Database was last updated at Apr 25, 2011