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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
中文
EN
Human
HBS1L Variant
Genomic mutations
Protein mutations
Search
?
HBS1L Sequence
All
P: 0
LP: 0
LB: 2
B: 2
VUS: 12
Variant of Interest
Exon 1
Exon 2
Exon 3
Exon 4
Exon 5
Exon 6
Exon 7
Exon 8
Exon 9
Exon 10
Exon 11
Exon 12
Exon 13
Exon 14
Exon 15
Exon 16
Exon 17
Exon 18
Second base in codon
First base in codon
Last base in codon
AA.location:
--
Codon Chart
CDS position:
--
Genomic location:
--
Region:
--
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Patho Predictor
RNA Splicer
1
Exon 2
31
Exon 3
61
Exon 4
91
Exon 4
121
Exon 5
151
Exon 5
181
Exon 6
211
Exon 6
241
Exon 7
M
A
T
G
A
G
C
C
R
C
G
G
H
C
A
T
R
C
G
G
N
A
A
T
V
G
T
T
R
C
G
A
G
G
G
C
Y
T
A
T
N
A
A
C
Y
T
A
C
D
G
A
T
E
G
A
A
D
G
A
T
F
T
T
T
E
G
A
A
D
G
A
T
D
G
A
T
D
G
A
T
L
C
T
C
Y
T
A
C
G
G
G
C
Q
C
A
G
S
T
C
T
V
G
T
A
E
G
A
G
D
G
A
T
D
G
A
T
Y
T
A
T
C
T
G
T
I
A
T
T
S
T
C
G
P
C
C
G
S
T
C
A
T
A
C
A
A
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C
T
A
G
C
T
Q
C
A
G
F
T
T
T
I
A
T
T
Y
T
A
T
S
T
C
A
R
C
G
G
R
C
G
T
D
G
A
C
K
A
A
A
P
C
C
T
S
T
C
C
V
G
T
T
E
G
A
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P
C
C
T
V
G
T
G
E
G
A
A
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G
A
A
Y
T
A
T
D
G
A
T
Y
T
A
T
E
G
A
A
D
G
A
T
L
C
T
G
K
A
A
A
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G
A
A
S
T
C
T
S
T
C
C
N
A
A
T
S
T
C
T
V
G
T
T
S
T
C
A
N
A
A
C
H
C
A
T
Q
C
A
G
L
C
T
C
S
A
G
T
G
G
G
A
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T
T
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G
A
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C
A
A
A
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C
G
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C
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Y
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C
A
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G
C
L
C
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G
A
T
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C
A
C
M
A
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G
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A
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A
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A
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G
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A
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G
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A
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A
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A
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A
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A
A
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A
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A
L
T
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A
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T
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G
A
A
A
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C
A
V
G
T
T
L
C
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G
K
A
A
G
N
A
A
C
K
A
A
G
F
T
T
T
D
G
A
T
V
G
T
G
Q
C
A
G
K
A
A
G
A
G
C
T
L
T
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S
T
C
A
G
G
G
G
V
G
T
T
L
C
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G
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G
A
A
Q
C
A
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A
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A
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A
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G
K
A
A
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D
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A
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N
A
A
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A
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A
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A
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A
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C
A
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A
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C
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C
D
G
A
T
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G
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T
L
C
T
T
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G
A
G
T
A
C
T
A
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C
T
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T
C
T
K
A
A
A
S
T
C
T
A
G
C
T
N
A
A
T
P
C
C
A
P
C
C
C
H
C
A
C
T
A
C
G
I
A
T
T
Q
C
A
A
A
G
C
A
S
T
C
A
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G
A
A
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G
A
G
Q
C
A
G
S
A
G
T
S
T
C
A
T
A
C
C
P
C
C
A
A
G
C
A
P
C
C
G
V
G
T
G
K
A
A
A
K
A
A
G
S
T
C
T
G
G
G
C
K
A
A
G
L
C
T
G
R
A
G
G
Q
C
A
G
Q
C
A
A
I
A
T
A
D
G
A
T
V
G
T
G
K
A
A
G
A
G
C
G
E
G
A
A
L
C
T
G
E
G
A
G
K
A
A
G
R
C
G
G
Q
C
A
A
G
G
G
A
G
G
G
G
K
A
A
G
Q
C
A
G
L
C
T
A
L
C
T
C
N
A
A
C
L
T
T
A
V
G
T
G
V
G
T
C
I
A
T
T
G
G
G
T
H
C
A
T
V
G
T
T
D
G
A
T
271
Exon 7
301
Exon 8
331
Exon 8
361
Exon 9
391
Exon 10
421
Exon 11
451
Exon 12
481
Exon 13
511
Exon 14
A
G
C
T
G
G
G
G
K
A
A
A
S
A
G
T
T
A
C
T
L
C
T
G
M
A
T
G
G
G
G
C
H
C
A
T
M
A
T
G
L
C
T
T
Y
T
A
T
L
C
T
T
L
C
T
G
G
G
G
T
N
A
A
T
I
A
T
A
N
A
A
C
K
A
A
A
R
A
G
A
T
A
C
T
M
A
T
G
H
C
A
T
K
A
A
G
Y
T
A
T
E
G
A
A
Q
C
A
G
E
G
A
G
S
T
C
T
K
A
A
A
K
A
A
G
A
G
C
T
G
G
G
C
K
A
A
A
A
G
C
T
S
T
C
G
F
T
T
T
A
G
C
A
Y
T
A
T
A
G
C
A
W
T
G
G
V
G
T
C
L
T
T
G
D
G
A
T
E
G
A
A
T
A
C
T
G
G
G
C
E
G
A
A
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G
A
A
R
A
G
G
E
G
A
A
R
A
G
G
G
G
G
A
V
G
T
A
T
A
C
C
M
A
T
G
D
G
A
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V
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G
G
G
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M
A
T
G
T
A
C
A
K
A
A
G
F
T
T
T
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G
A
A
T
A
C
C
T
A
C
A
T
A
C
C
K
A
A
A
V
G
T
T
I
A
T
T
T
A
C
A
L
T
T
A
M
A
T
G
D
G
A
T
A
G
C
T
P
C
C
A
G
G
G
C
H
C
A
T
K
A
A
G
D
G
A
C
F
T
T
C
I
A
T
T
P
C
C
A
N
A
A
T
M
A
T
G
I
A
T
T
T
A
C
A
G
G
G
A
A
G
C
A
A
G
C
C
Q
C
A
G
A
G
C
G
D
G
A
T
V
G
T
A
A
G
C
T
V
G
T
T
L
T
T
A
V
G
T
T
V
G
T
A
D
G
A
T
A
G
C
C
S
A
G
C
R
A
G
G
G
G
G
A
E
G
A
G
F
T
T
T
E
G
A
A
A
G
C
T
G
G
G
A
F
T
T
T
E
G
A
G
T
A
C
T
G
G
G
A
G
G
G
A
Q
C
A
A
T
A
C
A
R
C
G
A
E
G
A
G
H
C
A
T
G
G
G
A
L
C
T
C
L
T
T
G
V
G
T
C
R
C
G
T
S
T
C
T
L
C
T
G
G
G
G
A
V
G
T
G
T
A
C
G
Q
C
A
G
L
C
T
T
A
G
C
A
V
G
T
T
A
G
C
A
V
G
T
T
N
A
A
T
K
A
A
A
M
A
T
G
D
G
A
T
Q
C
A
G
V
G
T
T
N
A
A
T
W
T
G
G
Q
C
A
A
Q
C
A
A
E
G
A
A
R
A
G
G
F
T
T
T
Q
C
A
A
E
G
A
G
I
A
T
T
T
A
C
T
G
G
G
A
K
A
A
A
L
C
T
T
G
G
G
G
H
C
A
C
F
T
T
T
L
C
T
T
K
A
A
G
Q
C
A
A
A
G
C
A
G
G
G
T
F
T
T
T
K
A
A
G
E
G
A
G
S
A
G
T
D
G
A
T
V
G
T
A
G
G
G
T
F
T
T
T
I
A
T
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P
C
C
T
T
A
C
A
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A
G
T
G
G
G
T
L
C
T
C
S
A
G
T
G
G
G
T
E
G
A
A
N
A
A
T
L
C
T
A
I
A
T
C
T
A
C
A
R
A
G
A
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T
C
T
Q
C
A
G
S
T
C
A
S
A
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T
E
G
A
A
L
C
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C
T
A
C
A
K
A
A
A
W
T
G
G
Y
T
A
T
K
A
A
A
G
G
G
A
L
C
T
A
C
T
G
T
L
T
T
A
L
T
T
A
E
G
A
A
Q
C
A
A
I
A
T
T
D
G
A
T
S
T
C
C
F
T
T
T
K
A
A
G
P
C
C
T
P
C
C
C
Q
C
A
G
R
C
G
A
S
T
C
T
I
A
T
T
D
G
A
C
K
A
A
A
P
C
C
T
F
T
T
T
R
A
G
A
L
T
T
A
C
T
G
T
V
G
T
G
S
T
C
C
D
G
A
T
V
G
T
T
F
T
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C
K
A
A
A
D
G
A
T
Q
C
A
A
G
G
G
A
S
T
C
T
G
G
G
A
F
T
T
T
C
T
G
C
I
A
T
A
T
A
C
T
G
G
G
T
K
A
A
A
I
A
T
A
E
G
A
A
A
G
C
T
G
G
G
T
Y
T
A
T
I
A
T
C
Q
C
A
A
T
A
C
T
G
G
G
T
D
G
A
C
R
C
G
A
L
C
T
A
L
C
T
G
A
G
C
A
M
A
T
G
P
C
C
T
P
C
C
T
N
A
A
T
E
G
A
A
T
A
C
T
C
T
G
T
T
A
C
C
V
G
T
G
K
A
A
A
G
G
G
A
I
A
T
C
T
A
C
T
L
C
T
G
H
C
A
T
D
G
A
T
E
G
A
A
P
C
C
T
Wechat
Comparison
Al agent
Sources
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Amino acid Site:--
AA:--
Codon:--
Clinvar ID
Codon
Nucleotide
Protein
Type
Clinical Significance
AI Predictor