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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
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Mutation Direct
Effortless mutation search and display tool
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Search criteria:
Gene:
MSR1
& Disease:
BE
, 12 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
14357
MSR1
c.877C>T
p.Arg293Ter (p.R293X)
NM_138715.3
M
SNV
P
4
+
5
MSR1
c.931C>T
p.Arg311Ter (p.R311X)
NM_001363744.1
SNV
P
4
+
5
MSR1
c.877C>T
p.Arg293Ter (p.R293X)
NM_002445.4
SNV
P
4
+
5
MSR1
c.877C>T
p.Arg293Ter (p.R293X)
NM_138716.3
SNV
P
4
+
5
29779
MSR1
c.760C>G
p.Leu254Val (p.L254V)
NM_138715.3
M
SNV
P
1
+
1
MSR1
c.814C>G
p.Leu272Val (p.L272V)
NM_001363744.1
SNV
P
1
+
1
MSR1
c.760C>G
p.Leu254Val (p.L254V)
NM_002445.4
SNV
P
1
+
1
MSR1
c.760C>G
p.Leu254Val (p.L254V)
NM_138716.3
SNV
P
1
+
1
2431546
MSR1
c.217G>A
p.Ala73Thr (p.A73T)
NM_138715.3
M
SNV
VUS
1
+
0
MSR1
c.271G>A
p.Ala91Thr (p.A91T)
NM_001363744.1
SNV
VUS
1
+
0
MSR1
c.217G>A
p.Ala73Thr (p.A73T)
NM_002445.4
SNV
VUS
1
+
0
MSR1
c.217G>A
p.Ala73Thr (p.A73T)
NM_138716.3
SNV
VUS
1
+
0
12 Results, 20 per Page
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