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.3415A>G
|
p.Ile1139Val
|
I1139V
|
exon 21
|
A to G at 3547
|
Ile to Val at 1139
|
|
c.3739G>A
|
p.Gly1247Arg
|
G1247R(G- >A)
|
exon 23
|
G to A at 3871
|
Gly to Arg at 1247
|
|
c.3739G>C
|
p.Gly1247Arg
|
G1247R(G- >C)
|
exon 23
|
G to C at 3871
|
Gly to Arg at 1247
|
|
|