Family ID
|
Gene
|
DFN locus
|
Nucleotide change
|
Variation type
|
Amino acid change
|
Chromosome/exon
|
Mutation taster
|
PROVEANa
|
SIFTb
|
Allele frequency in controls
|
Novel or HGMD
|
---|
Dominant
| | | | | | | | | | | |
JSNY-021
|
WFS1
|
DFNA6/14/38
|
c.2036_2038
|
In-frame indel
|
p.E680del
|
4/8
|
DCc
|
-
|
-
|
0.00
|
Novel
|
delAGG
|
JSNY-027
|
COCH
|
DFNA9
|
c. 113G > A
|
Missense
|
p.G38D
|
14/4
|
DC
|
−1.431
|
0.00
|
0.00
|
Novel
|
JSNY-033
|
WFS1
|
DFNA6/14/38
|
c.1957C > T
|
Missense
|
p.R653C
|
4/8
|
DC
|
−3.501
|
0.98
|
0.00
|
Awata et al. [14]
|
JSNY-043
|
ACTG1
|
DFNA20/26
|
c.946G > A
|
Missense
|
p.E316K
|
17/5
|
DC
|
−2.648
|
0.01
|
0.00
|
Novel
|
JSNY-053
|
TMC1
|
DFNA36
|
c.1714G > A
|
Missense
|
p.D572N
|
9/19
|
DC
|
−2.499
|
0.21
|
0.00
|
Kurima et al. [15]
|
JSNY-056
|
POU4F3
|
DFNA15
|
c.491 C > G
|
Missense
|
p.P164R
|
5/2
|
DC
|
−2.112
|
0.34
|
0.00
|
Novel
|
Recessive
| | | | | | | | | | | |
JSNY-045
|
USH2A
|
1q41
|
c.5051G > A
|
Missense
|
p.P1684L
|
1/25
|
DC
|
−4.567
|
0.00
|
0.00
|
Novel
|
-
aNegative and positive scores indicate deleterious and neutral, respectively, with cut-off score set at −1.3; bScore ranges from 0 (deleterious) to 1 (neutral), with cut-off score set at 0.05. cDC: Disease causing.