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.2988+198G>A
|
|
3120+ 198G- >A
|
intron 18
|
G to A at 3120+ 198
|
Splicing
|
c.2988+1G>A
|
|
3120+ 1G- >A
|
intron 18
|
G to A at 3120+ 1
|
mRNA splicing defect
|
|
|