Patient number
|
Age
|
Genotype
|
Phenotype
|
---|
| |
Allele 1
|
Allele 2
|
CT
|
Age of onset
|
Diameter (mm)
|
PTA (L) (dB)
|
PTA (R) (dB)
|
Thyroid hormone
|
US scan Of thyroid
|
---|
| |
Nucleotide Change
|
amino acid change
|
category
|
nucleotide change
|
amino acid change
|
category
| | | | | | | |
---|
1
|
17
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
aEVA
|
0.7
|
3.28
|
82.
|
93
|
normal
|
normal
|
2
|
17
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
EVA
|
2
|
3.33
|
103
|
106
|
normal
|
normal
|
3
|
9
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
EVA
|
2.5
|
2.73
|
93
|
95
|
Total T3 slightly elevated
|
normal
|
4
|
16
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
EVA
|
0
|
2.73
|
97
|
97
|
normal
|
normal
|
5
|
10
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
EVA
|
1
|
3.64
|
76
|
93
|
normal
|
normal
|
6
|
14
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
EVA
|
2
|
2.73
|
96
|
83
|
normal
|
normal
|
7
|
10
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
EVA
|
1
|
2.0
|
88
|
95
|
normal
|
normal
|
8
|
8
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
EVA
|
2
|
1.64
|
101
|
95
|
normal
|
normal
|
9
|
19
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
230A>T
|
K77I
|
pathogenic
|
EVA
|
4
|
2.22
|
71
|
55
|
normal
|
normal
|
10
|
16
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
1229C>T
|
bT410M
|
pathogenic
|
EVA
|
3
|
4.55
|
78
|
77
|
normal
|
normal
|
11
|
14
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
1975G>C
|
bV659L
|
pathogenic
|
EVA
|
3
|
4.19
|
95
|
95
|
normal
|
normal
|
12
|
13
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
2168A>G
|
H723R
|
pathogenic
|
EVA
|
3.5
|
4.55
|
96
|
85
|
normal
|
normal
|
13
|
13
|
2168A>G
|
H723R
|
pathogenic
|
109G>T
|
E37X, nonsense mutation
|
pathogenic
|
EVA
|
0
|
2.89
|
90
|
87
|
normal
|
Cystoid change
|
14
|
19
|
2168A>G
|
H723R
|
pathogenic
|
1229C>T
|
bT410M
|
pathogenic
|
EVA
|
1.5
|
2.44
|
107
|
102
|
normal
|
normal
|
15
|
17
|
2168A>G
|
H723R
|
pathogenic
|
2167C>G
|
H723D
|
Unclassified variant
|
EVA
|
0.25
|
5.46
|
85
|
100
|
normal
|
normal
|
16
|
14
|
1173C>A
|
S391R
|
pathogenic
|
1229C>T
|
bT410M
|
pathogenic
|
EVA
|
0.1
|
3.33
|
95
|
90
|
normal
|
normal
|
17
|
10
|
1124A>G
|
Y375C
|
Unclassified variant
|
1409G>A
|
R470H
|
Unclassified variant
|
Vestibular and cochlear malformation
|
0.1
| |
aNA
|
NA
|
NA
|
NA
|
18
|
19
|
1472T>C
|
I491T
|
Unclassified variant
| | | |
EVA and Mondini
|
0.6
|
4.44
|
100
|
100
|
NA
|
NA
|
19
|
16
|
IVS7-2
|
aberrant splicing
|
pathogenic
| | | |
EVA
|
2
|
5.46
|
93
|
92
|
Total T3 slightly elevated
|
normal
|
20
|
10
|
IVS7-2
|
aberrant splicing
|
pathogenic
| | | |
EVA
|
2
|
2.66
|
76
|
77
|
normal
|
normal
|
21
|
17
|
IVS7-2
|
aberrant splicing
|
pathogenic
|
1905G>A
|
E635E
|
Silent variant
|
aND
|
1
| |
84
|
107
|
NA
|
NA
|
22
|
19
|
1174A>T
|
N392Y
|
pathogenic
| | | |
ND
|
0
| |
100
|
100
|
NA
|
NA
|
23
|
16
|
IVS7-2
|
aberrant splicing
|
pathogenic
| | | |
anl
|
1
| |
110
|
102
|
NA
|
NA
|
24
|
24
|
IVS7-2
|
aberrant splicing
|
pathogenic
| | | |
nl
|
1.1
| |
100
|
100
|
NA
|
NA
|
25
|
19
|
1790T>C
|
L597S
|
Unclassified variant
| | | |
nl
|
1.2
| |
100
|
100
|
NA
|
NA
|
26
|
17
|
1975G>C
|
bV659L
|
pathogenic
| | | |
nl
|
0
| |
98
|
100
|
normal
|
normal
|
27
|
15
|
757A>G
|
I253V
|
Unclassified variant
| | | |
nl
|
1
| |
110
|
108
|
NA
|
NA
|
28
|
17
|
200C>G
|
T67S
|
Unclassified variant
| | | |
nl
|
1.3
| |
95
|
100
|
normal
|
normal
|
29
|
13
|
IVS12-6 insT
|
Intron insertion
|
Unclassified variant
| | | |
nl
|
1
| |
97
|
100
|
NA
|
NA
|
30
|
16
|
225C>G
|
L75L
|
Silent variant
| | | |
ND
|
0
| |
110
|
103
|
NA
|
NA
|
31
|
20
|
678T>C
|
A226A
|
Silent variant
| | | |
nl
|
1
| |
105
|
105
|
NA
|
NA
|
32
|
18
|
1905G>A
|
E635E
|
Silent variant
| | | |
nl
|
0.7
| |
110
|
110
|
normal
|
normal
|
- Novel mutations are in bold and italic. nl = normal, EVA = enlarged vestibular aqueduct, ND = not determined, NA = not available, CT = computerized tomography, PTA(L) or (R) = pure tone average(left) or (R), IVS7 = intravening sequence 7 (intron 7), IVS12 = intravening sequence 12 (intron 12), Diameter = Diameter at the midpoint between the common crus and the external aperture.