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
|
Protein Name
|
Legacy Name
|
Region
|
Description
|
Consequence
|
|
c.224G>A
|
p.Arg75Gln
|
R75Q
|
exon 3
|
G or A at 356
|
sequence variation
|
|
c.1521_1523delCTT
|
p.Phe508del
|
[delta]F508
|
exon 11
|
deletion of 3 bp between 1652 and 1655
|
deletion of Phe at 508
|
|
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