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- 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.489+3A>G
|
|
621+ 3A- >G
|
intron 4
|
A to G at 621+ 3
|
mRNA splicing defect
|
c.877C>A
|
p.Leu293Met
|
L293M
|
exon 8
|
C to A at 1009
|
Leu to Met at 293
|
c.1798A>G
|
p.Arg600Gly
|
R600G
|
exon 14
|
A to G at 1930
|
Arg to Gly at 600
|
c.2083_2084insG
|
p.Glu695GlyfsX35
|
2215insG
|
exon 14
|
insertion of G at 2215
|
frameshift
|
c.2087A>G
|
p.Lys696Arg
|
|
exon 14
|
|
|
c.2089_2090insA
|
p.Arg697LysfsX33
|
2221insA
|
exon 14
|
insertion of A at 2221
|
Frameshift a premature stop codon appears 33 codons further
|
c.2089_2090insA
|
p.Arg697LysfsX33
|
2221insA
|
exon 14
|
insertion of A at 2221
|
Frameshift a premature stop codon appears 33 codons further
|
c.2900T>C
|
p.Leu967Ser
|
L967S
|
exon 17
|
T to C at 3032
|
Leu to Ser at 967 (oligospermia?)
|
c.3208C>T
|
p.Arg1070Trp
|
R1070W
|
exon 20
|
C to T at 3340
|
Arg to Trp at 1070
|
c.3293G>A
|
p.Trp1098X
|
W1098X(TAG)
|
exon 20
|
G to A at 3425
|
Trp to Stop at 1098
|
c.3294G>A
|
p.Trp1098X
|
W1098X(TGA)
|
exon 20
|
G to A at 3426
|
Trp to Stop at 1098
|
c.3469-17T>C
|
|
3601- 17T- >C
|
intron 21
|
T to C at 3601- 17
|
mRNA splicing defect?
|
c.3876delA
|
p.Val1293TyrfsX35
|
4006delA
|
exon 24
|
deletion of A at 4006
|
frameshift
|
c.3877G>A
|
p.Val1293Ile
|
V1293I
|
exon 24
|
G to A at 4009
|
Val to Ile at 1293
|
c.4389G>T
|
p.Gln1463His
|
Q1463H
|
exon 27
|
G to T at 4521
|
Gln to His a 1463
|
|
|