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.1116+1G>A
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1248+ 1G- >A
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intron 8
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G to A at 1248+ 1
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mRNA splicing defect
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c.1116+1G>C
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1248+ 1G- >C
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intron 8
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G to C at 1248+ 1
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Splicing
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c.1116+52T>C
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1248+ 52T/C
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intron 8
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T or C at 1248+ 52
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sequence variation
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c.1116+31A>C
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1248+ 31 A/C
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intron 8
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1248 + 31 A>C
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sequence variation ?
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c.1116+17C>T
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1248+ 17C- >T
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intron 8
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C or T at 1248+ 17
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sequence variation
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c.(?_274)_(1116_?)del(?_1585)_(3468_?)del
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CFTR50kbdel
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exon 4 - exon 21
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complex deletion involving exons 4- 7 and 11- 18
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complex deletion
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