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.2657+5G>A
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2789+ 5G>A
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intron 16
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G to A at 2789+ 5
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mRNA splicing defect
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c.2684G>C
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p.Ser895Thr
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S895T
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exon 17
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G to C at 2816
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Ser to Thr at 895
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