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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:
NAA20
& Disease:
MRT73
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1338747
NAA20
c.160A>G
p.Met54Val (p.M54V)
NM_016100.5
M
SNV
P
1
+
1
1338748
NAA20
c.239C>T
p.Ala80Val (p.A80V)
NM_016100.5
M
SNV
P
1
+
1
1338747
NAA20
c.124A>G
p.Met42Val (p.M42V)
NM_181527.3
SNV
P
1
+
1
NAA20
c.160A>G
p.Met54Val (p.M54V)
NM_181528.3
SNV
P
1
+
1
1338748
NAA20
c.203C>T
p.Ala68Val (p.A68V)
NM_181527.3
SNV
P
1
+
1
NAA20
c.239C>T
p.Ala80Val (p.A80V)
NM_181528.3
SNV
P
1
+
1
6 Results, 20 per Page
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