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.44T>C
|
p.Leu15Pro
|
L15P
|
exon 1
|
T to C at 176
|
Leu to Pro at 15
|
c.1951G>C
|
p.Asp651His
|
D651H
|
exon 14
|
G to C at 2083
|
Asp to His at 651
|
c.1951G>A
|
p.Asp651Asn
|
D651N
|
exon 14
|
G to A at 2083
|
Asp to Asn at 651
|
c.3844T>C
|
p.Trp1282Arg
|
W1282R
|
exon 23
|
T to C at 3976
|
Trp to Arg at 1282
|
|
|