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.4C>T
|
p.Gln2X
|
Q2X (together with R3W)
|
exon 1
|
C to T at 136 and A to T at 139
|
Gln to Stop at codon 2 and Arg to Trp at codon 3
|
|
|
