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.489G>A
|
|
621G- >A
|
exon 4
|
G to A at 621
|
mRNA splicing defect
|
c.489+1G>T
|
|
621+ 1G- >T
|
intron 4
|
G to T at 621+ 1
|
mRNA splicing defect
|
c.489+2T>C
|
|
621+ 2T- >C
|
intron 4
|
T to C at 621+ 2
|
mRNA splicing defect
|
c.489+2T>G
|
|
621+ 2T- >G
|
intron 4
|
T to G at 621+ 2
|
mRNA splicing defect
|
c.489+3A>G
|
|
621+ 3A- >G
|
intron 4
|
A to G at 621+ 3
|
mRNA splicing defect
|
c.489+31C>G
|
|
621+ 31C/G
|
intron 4
|
C or G at 621+ 31
|
sequence variation
|
|
|