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.3497T>G
|
p.Phe1166Cys
|
F1166C
|
exon 22
|
T to G at 3629
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Phe to Cys at 1166
|
|
c.3497delT
|
p.Phe1166SerfsX26
|
3629delT
|
exon 22
|
Deletion of T at 3629
|
Frame shift
|
|
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