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
|
|
c.597T>G
|
p.His199Gln
|
H199Q
|
exon 6
|
T to G at 729
|
His to Gln at 199
|
|
c.2597G>A
|
p.Cys866Tyr
|
C866Y
|
exon 15
|
G to A at 2729
|
Cys to Tyr at 866
|
|
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