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.(?_54)_(273_?)del
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Del exon 2- 3
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intron 2 - exon 3
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Deletion of exons 2, 3
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Predicted truncation of the CFTR Protein
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c.(?_274)_(743_?)del
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Del exon 4- 6a
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exon 4 - exon 6
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Deletion of exons 4, 5, 6a
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Predicted truncation of the CFTR protein in TM1.
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c.(?_2989)_(3367_?)del
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Del exon 17a- 17b
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exon 19 - exon 20
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Deletion of exons 17a- 17b
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Truncation of CFTR protein in TM2.
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c.(?_2989)_(3468_?)del
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Del exon 17a- 17b- 18
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exon 19 - exon 21
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Deletion of exons 17a- 18
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in-frame deletion, joining of exons 16 to 19, deletion of terminal domain of TM2.
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c.(?_3964)_(4242_?)del
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Del exon 22- 23
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exon 25 - exon 26
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Deletion of exons 22- 23
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In-frame deletion that is predicted to remove the terminal part of NBD2
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c.(?_3964)_(*1553_?)del
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Del exon 22- 24
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exon 25 - exon 27
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Deletion of Exons 22, 23, 24
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Predicted Removal of terminal portion of CFTR protein
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