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.2251C>T
|
p.Arg751Cys
|
R751C
|
exon 14
|
2383C>T
|
|
c.2380delG
|
p.Val794CysfsX9
|
2512delG
|
exon 14
|
Deletion of G at 2512
|
Frameshift
|
c.2519T>C
|
p.Ile840Thr
|
I840T
|
exon 15
|
T to C at 2651
|
Ile to Thr at 840
|
c.3752G>A
|
p.Ser1251Asn
|
S1251N
|
exon 23
|
G to A 3884
|
Ser to Asn at 1251
|
c.4251delA
|
p.Glu1418ArgfsX14
|
4382delA
|
exon 27
|
deletion of A at 4382
|
frameshift
|
c.2989-977_3367+248del
|
|
3121- 977_3499+ 248del2515
|
exon 19 - exon 20
|
3121- 977_3499+ 248del2515bp
|
Large deletion removing exons 17a and 17b. Frameshift
|
|
|