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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:
CUL3
& Disease:
Nk-Cell Enteropathy
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
638623
CUL3
c.1499G>A
p.Gly500Asp (p.G500D)
NM_003590.5
M
SNV
LP
1
+
0
CUL3
c.1301G>A
p.Gly434Asp (p.G434D)
NM_001257197.2
SNV
LP
1
+
0
CUL3
c.1517G>A
p.Gly506Asp (p.G506D)
NM_001257198.2
SNV
LP
1
+
0
3 Results, 20 per Page
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