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