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.358G>A
|
p.Ala120Thr
|
A120T
|
exon 4
|
G to A at 490
|
Ala to Thr at 120
|
c.359C>T
|
p.Ala120Val
|
A120V
|
exon 4
|
C to T at 491
|
Ala to Val at 120
|
|
|