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).
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cDNA Name
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Protein Name
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Legacy Name
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Region
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Description
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Consequence
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c.1392G>T
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p.Lys464Asn
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K464N
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exon 10
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G to T at 1524
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Lys to Asn at 464, mRNA splicing defect?
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c.1392+6_1392+7insA
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1524+ 6insC
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intron 10
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insertion of C after 1524+ 6, with G to A at 1524+ 12
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mRNA splicing defect?
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c.1392+68G>A
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1524+ 68 G/A
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intron 10
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1524 + 68 G>A
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sequence variation
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c.1392+1G>A
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1524+ 1G- >A
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intron 10
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G to A at 1524+ 1
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splice mutation
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c.1392+4g>T
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intron 10
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c.1392+60_1392+61insA
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1524+ 60 insA
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exon 10
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Ins A at 1524+ 60
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sequence variation
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c.2991G>C
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p.Leu997Phe
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L997F
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exon 19
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G or C at 3123
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Leu or Phe at 997 (sequence variation)
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c.3700A>C
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p.Ile1234Leu
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I1234L
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exon 22
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A to C at 3832
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sequence variation
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c.3700A>G
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p.Ile1234Val
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I1234V
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exon 22
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A to G at 3832
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Ile to Val at 1234
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