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.829T>A
|
p.Trp277Arg
|
W277R
|
exon 7
|
T to A at 961
|
Trp to Arg at 277
|
|
c.2276_2277delCC
|
p.Pro759HisfsX19
|
2406delCC
|
exon 14
|
deletion of CC at 2406
|
Frameshift
|
|
c.2277delC
|
p.Thr760ArgfsX11
|
2409delC
|
exon 14
|
Deletion of C at 2409
|
Frameshift
|
|
c.2770G>A
|
p.Asp924Asn
|
D924N
|
exon 17
|
G to A at 2902
|
Asp to Asn at 924
|
|
c.2770G>T
|
p.Asp924Tyr
|
D924Y
|
exon 17
|
2902G>T
|
|
|
c.2775_2776delTT
|
p.Leu926AlafsX48
|
2907delTT
|
exon 17
|
deletion of TT from 2907
|
frameshift
|
|
c.2777delT
|
p.Leu926CysfsX16
|
2909delT
|
exon 17
|
deletion of T at 2909
|
frameshift
|
|
c.2778G>T
|
p.Leu926Phe
|
|
exon 17
|
|
|
|
c.3829delA
|
p.Ile1277X
|
3960- 3961delA
|
exon 23
|
Deletion of A at 3960- 3961
|
Frameshift
|
|
c.4277C>T
|
p.Ser1426Phe
|
S1426F
|
exon 27
|
C to T at 4409
|
Ser to Phe at 1426
|
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