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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:
DUT
& Disease:
BMFDMS
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1706580
DUT
c.425A>G
p.Tyr142Cys (p.Y142C)
NM_001025248.2
M
SNV
P
1
+
4
DUT
c.92A>G
p.Tyr31Cys (p.Y31C)
NM_001025249.1
SNV
P
1
+
4
DUT
c.170A>G
p.Tyr57Cys (p.Y57C)
NM_001330286.2
SNV
P
1
+
4
DUT
c.161A>G
p.Tyr54Cys (p.Y54C)
NM_001948.4
SNV
P
1
+
4
4 Results, 20 per Page
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