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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:
SELENON
& Disease:
Muscular Dystrophy
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
4492
SELENON
c.1397G>A
p.Arg466Gln (p.R466Q)
NM_020451.3
M
SNV
P
2
+
14
SELENON
c.1295G>A
p.Arg432Gln (p.R432Q)
NM_206926.2
SNV
P
2
+
14
930110
SELENON
c.746_747+36del
--
NM_020451.3
M
Del
P
2
+
3
SELENON
c.644_645+36del
--
NM_206926.2
Del
P
2
+
3
4 Results, 20 per Page
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