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.350G>A
|
p.Arg117His
|
R117H
|
exon 4
|
G to A at 482
|
Arg to His at 117
|
c.794T>G
|
p.Met265Arg
|
M265R
|
exon 7
|
T to G at 926
|
Met to Arg at 265
|
c.1210-2_1210-1delAG
|
|
1342- 2delAG
|
intron 9
|
deletion of AG from 1342- 2
|
mRNA splicing defect
|
c.1210-2A>C
|
|
1342- 2A- >C
|
intron 9
|
A to C at 1342- 2
|
mRNA splicing defect
|
c.1210-1delG
|
|
1342- 1delG
|
intron 9
|
Deletion of G at 1342- 1
|
Frameshift
|
c.1210-1G>C
|
|
1342- 1G- >C
|
intron 9
|
G to C at 1342- 1
|
mRNA splicing defect
|
c.1210-13G>T
|
|
1342- 13G/T
|
intron 9
|
G or T at 1342- 13
|
sequence variation
|
c.1210-12T[5_9]
|
|
poly- T tract variations
|
intron 9
|
variable number (5T, 7T, 9T) of thymidines at the poly- T tract starting at position 1342- 6
|
sequence variation (3 variants of which IVS8-5T is affecting splicing of exon 9)
|
c.1210-11T>G
|
|
1342- 11TTT- >G
|
intron 9
|
TTT to G at 1342- 11
|
mRNA splicing defect?
|
c.1521_1523delCTT
|
p.Phe508del
|
[delta]F508
|
exon 11
|
deletion of 3 bp between 1652 and 1655
|
deletion of Phe at 508
|
c.1652G>A
|
p.Gly551Asp
|
G551D
|
exon 12
|
G to A at 1784
|
Gly to Asp at 551
|
c.1666A>G
|
p.Ile556Val
|
I556V
|
exon 12
|
A to G at 1798
|
Ile to Val at 556 (mutation?)
|
c.1981delA
|
p.Ile661SerfsX2
|
2113delA
|
exon 14
|
deletion of A at 2113
|
frameshift
|
c.1981delA
|
p.Ile661SerfsX2
|
2113delA
|
exon 14
|
deletion of A at 2113
|
frameshift
|
c.2619G>A
|
|
2751G- >A
|
exon 15
|
G to A at 2751
|
mRNA splicing defect?
|
c.2619+3A>G
|
|
2751+ 3A- >G
|
intron 15
|
A to G at 2751+ 3
|
mRNA splicing defect? (CBAVD)
|
c.2619+18_2619+23del
|
|
IVS14a+ 17del5
|
intron 15
|
5 bp deletion between 2751+ 17 and 2751+ 24
|
sequence variation
|
c.2619+2T>A
|
|
2751+ 2T- >A
|
intron 15
|
T to A at 2751+ 2
|
mRNA splicing defect
|
c.2620-17G>A
|
|
2752- 17G/A
|
intron 15
|
G to A at 2752- 17
|
sequence variation
|
c.2620-6T>C
|
|
2752- 6T- >C
|
intron 15
|
T to C at 2752- 6
|
Splicing
|
c.2620-26A>G
|
|
2752- 26A- >G
|
intron 15
|
A to G at 2752- 26
|
mRNA splicing defect?
|
c.2620-1G>T
|
|
2752- 1G- >T
|
intron 15
|
G to T at 2752- 1
|
mRNA splicing defect
|
c.2620-15C>G
|
|
2752- 15C/G
|
intron 15
|
C or G at 2752- 15
|
sequence variation
|
c.2620-2A>G
|
|
2752- 2A>G
|
intron 15
|
A to G at 2752- 2
|
mRNA splicing defect
|
c.2620-1G>C
|
|
2752- 1G- >C
|
intron 15
|
G to C at 2752- 1
|
splice mutation
|
c.2620-22A>G
|
|
2752- 22A/G
|
intron 15
|
A or G at 2752- 22
|
sequence variation
|
c.2620-97C>T
|
|
2752- 97C- >T
|
intron 15
|
C to T at 2752- 97
|
Splicing
|
c.2620-17g>T
|
|
|
intron 15
|
|
|
c.2620-25dupA
|
|
2752- 33insA
|
intron 15
|
2752- 33insA
|
|
c.2620-18delT
|
|
|
intron 15
|
|
|
c.4140delA
|
p.Tyr1381ThrfsX3
|
4272delA
|
exon 26
|
Deletion of nucleotide A at 4272 position
|
Frameshift
|
c.4141T>C
|
p.Tyr1381His
|
Y1381H
|
exon 26
|
T to C at 4273
|
Tyr to His at 1381
|
c.4141T>C
|
p.Tyr1381His
|
Y1381H
|
exon 26
|
T to C at 4273
|
Tyr to His at 1381
|
c.4143C>A
|
p.Tyr1381X
|
Y1381X
|
exon 26
|
C to A at 4275
|
Tyr to Stop at 1381
|
c.4143C>A
|
p.Tyr1381X
|
Y1381X
|
exon 26
|
C to A at 4275
|
Tyr to Stop at 1381
|
c.2620-674_3367+198del
|
|
2752- 674_3499+ 198del9855
|
exon 16 - exon 20
|
2752- 674_3499+ 198del9855bp
|
Large deletion removing exons 14b to 17b. Frameshift
|
|
|