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.772A>G
|
p.Arg258Gly
|
R258G
|
exon 7
|
A to G at 904
|
Arg to Gly at 258
|
|
c.2563G>A
|
p.Val855Ile
|
V855I
|
exon 15
|
G to A at 2695
|
Val to Ile at 855 (sequence variation?)
|
|
c.3454G>C
|
p.Asp1152His
|
D1152H
|
exon 21
|
G to C at 3586
|
Asp to His at 1152
|
|
c.3854C>T
|
p.Ala1285Val
|
|
exon 23
|
|
|
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c.3854C>T
|
p.Ala1285Val
|
A1285V
|
exon 23
|
3986C>T
|
|
|
c.3854C>T
|
p.Ala1285Val
|
|
exon 23
|
|
|
|
c.3854C>T
|
p.Ala1285Val
|
A1285V
|
exon 23
|
3986C>T
|
|
|
c.4168C>T
|
p.Gln1390X
|
Q1390X
|
exon 26
|
4300 C to T
|
Gln to stop at 1390
|
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