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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.-751a>G
|
|
|
promoter
|
|
|
c.374T>C
|
p.Ile125Thr
|
I125T
|
exon 4
|
T to C at 506
|
Ile to Thr at 125
|
c.451C>A
|
p.Gln151Lys
|
Q151K
|
exon 4
|
C to A at 583 (CAG- >AAG)
|
Gln to Lys at 151
|
c.451C>T
|
p.Gln151X
|
Q151X
|
exon 4
|
C to T at 583
|
Gln to Stop at 151
|
c.518_522delATAAA
|
p.Ile175TyrfsX6
|
650delATAAA
|
exon 5
|
Deletion of ATAAA at 650
|
Frameshift
|
c.1451A>G
|
p.His484Arg
|
H484R
|
exon 11
|
A to G at 1583
|
His to Arg at 484
|
c.1510G>T
|
p.Glu504X
|
E504X
|
exon 11
|
G to T at 1642
|
Glu to Stop at 504
|
c.1510G>C
|
p.Glu504Gln
|
E504Q
|
exon 11
|
G to C at 1642
|
Glu to Gln at 504
|
c.1519_1521delATC
|
p.Ile507del
|
[delta]I507
|
exon 11
|
deletion of 3 bp between 1648 and 1653
|
deletion of Ile506 or Ile507
|
c.1516A>G
|
p.Ile506Val
|
I506V (1648A/G)
|
exon 11
|
A or G at 1648
|
Ile or Val at 506
|
c.1516A>C
|
p.Ile506Leu
|
I506L
|
exon 11
|
A to C at 1648
|
Ile to Leu at 506
|
c.1517T>G
|
p.Ile506Ser
|
I506S
|
exon 11
|
T to G at 1649
|
Ile to Ser at 506
|
c.1517T>C
|
p.Ile506Thr
|
I506T
|
exon 11
|
T to C at 1649
|
Ile to Thr at 506
|
c.1518C>G
|
p.Ile506Met
|
1650C/G
|
exon 11
|
C to G at 1650
|
Ile to Met at 506; sequence variation
|
c.1519A>G
|
p.Ile507Val
|
1651A/G
|
exon 11
|
A or G at 1651
|
sequence variation
|
c.1584+51_1584_61dup11
|
|
dup1716+ 51- >61
|
intron 11
|
duplication of 11 bp at 1716+ 51
|
sequence variation
|
c.1651G>A
|
p.Gly551Ser
|
G551S
|
exon 12
|
G to A at 1783
|
Gly to Ser at 551
|
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.2051_2052delAA
|
p.Lys684ThrfsX4
|
2183delAA
|
exon 14
|
deletion of AA at 2183
|
frameshift
|
c.2051_2052delAAinsG
|
p.Lys684SerfsX38
|
2183AA- >G
|
exon 14
|
A to G at 2183 and deletion of A at 2184
|
frameshift
|
c.2251C>T
|
p.Arg751Cys
|
R751C
|
exon 14
|
2383C>T
|
|
c.2374C>G
|
p.Arg792Gly
|
R792G
|
exon 14
|
C to G at 2506
|
Arg to Gly at 792
|
c.2374C>T
|
p.Arg792X
|
R792X
|
exon 14
|
C to T at 2506
|
Arg to Stop at 792
|
c.2519T>C
|
p.Ile840Thr
|
I840T
|
exon 15
|
T to C at 2651
|
Ile to Thr at 840
|
c.2551C>T
|
p.Arg851X
|
R851X
|
exon 15
|
C to T at 2683
|
Arg to Stop at 851
|
c.2909-51T>G
|
|
3041- 51 T/G
|
intron 17
|
3041 - 51 T>G
|
sequence variation?
|
c.3151A>G
|
p.Ile1051Val
|
I1051V
|
exon 20
|
A to G at 3283
|
Ile to Val at 1051
|
c.3744delA
|
p.Lys1250ArgfsX9
|
3876delA
|
exon 23
|
deletion of A at 3876
|
frameshift
|
c.3745G>A
|
p.Gly1249Arg
|
G1249R
|
exon 23
|
G to A at 3877
|
Gly to Arg at 1249
|
c.3746G>A
|
p.Gly1249Glu
|
G1249E
|
exon 23
|
G to A at 3878
|
Gly to Glu at 1249
|
c.3747delG
|
p.Lys1250ArgfsX9
|
3878delG
|
exon 23
|
deletion of G at 3878
|
frameshift mutation at 1249 and stop codon at 1258
|
c.4051A>G
|
p.Lys1351Glu
|
K1351E
|
exon 25
|
A to G at 4183
|
Lys to Glu at 1351 (CBAVD)
|
c.4251delA
|
p.Glu1418ArgfsX14
|
4382delA
|
exon 27
|
deletion of A at 4382
|
frameshift
|
|
|