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.1210-12T[5_9]
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poly- T tract variations
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intron 9
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variable number (5T, 7T, 9T) of thymidines at the poly- T tract starting at position 1342- 6
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sequence variation (3 variants of which IVS8-5T is affecting splicing of exon 9)
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