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 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.-751a>G promoter
c.374T>C p.Ile125Thr I125T exon 4 T to C at 506 Ile to Thr at 125
c.451C>A p.Gln151Lys Q151K exon 4 C to A at 583 (CAG- >AAG) Gln to Lys at 151
c.451C>T p.Gln151X Q151X exon 4 C to T at 583 Gln to Stop at 151
c.518_522delATAAA p.Ile175TyrfsX6 650delATAAA exon 5 Deletion of ATAAA at 650 Frameshift
c.1451A>G p.His484Arg H484R exon 11 A to G at 1583 His to Arg at 484
c.1510G>T p.Glu504X E504X exon 11 G to T at 1642 Glu to Stop at 504
c.1510G>C p.Glu504Gln E504Q exon 11 G to C at 1642 Glu to Gln at 504
c.1519_1521delATC p.Ile507del [delta]I507 exon 11 deletion of 3 bp between 1648 and 1653 deletion of Ile506 or Ile507
c.1516A>G p.Ile506Val I506V (1648A/G) exon 11 A or G at 1648 Ile or Val at 506
c.1516A>C p.Ile506Leu I506L exon 11 A to C at 1648 Ile to Leu at 506
c.1517T>G p.Ile506Ser I506S exon 11 T to G at 1649 Ile to Ser at 506
c.1517T>C p.Ile506Thr I506T exon 11 T to C at 1649 Ile to Thr at 506
c.1518C>G p.Ile506Met 1650C/G exon 11 C to G at 1650 Ile to Met at 506; sequence variation
c.1519A>G p.Ile507Val 1651A/G exon 11 A or G at 1651 sequence variation
c.1584+51_1584_61dup11 dup1716+ 51- >61 intron 11 duplication of 11 bp at 1716+ 51 sequence variation
c.1651G>A p.Gly551Ser G551S exon 12 G to A at 1783 Gly to Ser at 551
c.1951G>C p.Asp651His D651H exon 14 G to C at 2083 Asp to His at 651
c.1951G>A p.Asp651Asn D651N exon 14 G to A at 2083 Asp to Asn at 651
c.2051_2052delAA p.Lys684ThrfsX4 2183delAA exon 14 deletion of AA at 2183 frameshift
c.2051_2052delAAinsG p.Lys684SerfsX38 2183AA- >G exon 14 A to G at 2183 and deletion of A at 2184 frameshift
c.2251C>T p.Arg751Cys R751C exon 14 2383C>T
c.2374C>G p.Arg792Gly R792G exon 14 C to G at 2506 Arg to Gly at 792
c.2374C>T p.Arg792X R792X exon 14 C to T at 2506 Arg to Stop at 792
c.2519T>C p.Ile840Thr I840T exon 15 T to C at 2651 Ile to Thr at 840
c.2551C>T p.Arg851X R851X exon 15 C to T at 2683 Arg to Stop at 851
c.2909-51T>G 3041- 51 T/G intron 17 3041 - 51 T>G sequence variation?
c.3151A>G p.Ile1051Val I1051V exon 20 A to G at 3283 Ile to Val at 1051
c.3744delA p.Lys1250ArgfsX9 3876delA exon 23 deletion of A at 3876 frameshift
c.3745G>A p.Gly1249Arg G1249R exon 23 G to A at 3877 Gly to Arg at 1249
c.3746G>A p.Gly1249Glu G1249E exon 23 G to A at 3878 Gly to Glu at 1249
c.3747delG p.Lys1250ArgfsX9 3878delG exon 23 deletion of G at 3878 frameshift mutation at 1249 and stop codon at 1258
c.4051A>G p.Lys1351Glu K1351E exon 25 A to G at 4183 Lys to Glu at 1351 (CBAVD)
c.4251delA p.Glu1418ArgfsX14 4382delA exon 27 deletion of A at 4382 frameshift




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The Database was last updated at Apr 25, 2011