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.125C>T
|
p.Ser42Phe
|
S42F
|
exon 2
|
C to T at 257
|
Ser to Phe at 42
|
c.1253A>G
|
p.Asn418Ser
|
N418S
|
exon 10
|
A to G at 1385
|
Asn to Ser at 418
|
|
|