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.1210-2_1210-1delAG
|
|
1342- 2delAG
|
intron 9
|
deletion of AG from 1342- 2
|
mRNA splicing defect
|
|
c.1210-2A>C
|
|
1342- 2A- >C
|
intron 9
|
A to C at 1342- 2
|
mRNA splicing defect
|
|
c.1210-1delG
|
|
1342- 1delG
|
intron 9
|
Deletion of G at 1342- 1
|
Frameshift
|
|
c.1210-1G>C
|
|
1342- 1G- >C
|
intron 9
|
G to C at 1342- 1
|
mRNA splicing defect
|
|
c.1210-13G>T
|
|
1342- 13G/T
|
intron 9
|
G or T at 1342- 13
|
sequence variation
|
|
c.1210-12T[5_9]
|
|
poly- T tract variations
|
intron 9
|
variable number (5T, 7T, 9T) of thymidines at the poly- T tract starting at position 1342- 6
|
sequence variation (3 variants of which IVS8-5T is affecting splicing of exon 9)
|
|
c.1210-11T>G
|
|
1342- 11TTT- >G
|
intron 9
|
TTT to G at 1342- 11
|
mRNA splicing defect?
|
|
|
