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.508C>G
|
p.Arg170Gly
|
R170G
|
exon 5
|
C to G at 640
|
Arg to Gly at 170
|
|
c.508C>T
|
p.Arg170Cys
|
R170C
|
exon 5
|
C to T at 640
|
Arg to Cys at 170
|
|
c.509G>A
|
p.Arg170His
|
R170H
|
exon 5
|
G to A at 641
|
Arg to His at 170
|
|
|
