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- 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.1A>G
|
p.Met1Val
|
M1V
|
exon 1
|
A to G at 133
|
no translation initiation
|
|
c.1A>G
|
p.Met1Val
|
M1V
|
exon 1
|
A to G at 133
|
no translation initiation
|
|
c.-226G>T
|
|
- 94G- >T
|
promoter
|
G to T at - 94
|
promoter mutation
|
|
c.53+1G>T
|
|
185+ 1G- >T
|
intron 1
|
G to T at 185+ 1
|
mRNA splicing defect
|
|
c.2981T>G
|
p.Phe994Cys
|
F994C
|
exon 18
|
T to G at 3113
|
Phe to Cys at 994
|
|
c.3038C>T
|
p.Pro1013Leu
|
P1013L
|
exon 19
|
C to T at 3170
|
Pro to Leu at 1013
|
|
c.3154T>G
|
p.Phe1052Val
|
F1052V
|
exon 20
|
T to G at 3286
|
Phe to Val at 1052
|
|
c.3154T>G
|
p.Phe1052Val
|
F1052V
|
exon 20
|
T to G at 3286
|
Phe to Val at 1052
|
|
c.3730G>A
|
p.Gly1244Arg
|
G1244R
|
exon 23
|
G to A at 3862
|
Gly to Arg at 1244
|
|
c.3731G>A
|
p.Gly1244Glu
|
G1244E
|
exon 23
|
G to A at 3863
|
Gly to Glu at 1244
|
|
c.3731G>T
|
p.Gly1244Val
|
G1244V
|
exon 23
|
G to T at 3863
|
Gly to Val at 1244
|
|
c.3870A>G
|
|
P1290P (4002A/G)
|
exon 23
|
A or G at 4002
|
sequence variation
|
|
c.4280T>C
|
p.Ile427Thr
|
I1427T
|
exon 27
|
4412T>C
|
|
|
c.4389G>A
|
|
4521G/A
|
exon 27
|
G or A at 4521
|
sequence variation
|
|
c.*2G>A
|
|
4575+ 2G- >A
|
3'UTR
|
G to A at 4575+ 2
|
Splicing
|
|
|
