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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:
NSMF
& Disease:
PSIS
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
978574
NSMF
c.53C>A
p.Ser18Ter (p.S18X)
NM_001130969.3
M
SNV
P
1
+
1
NSMF
c.53C>A
p.Ser18Ter (p.S18X)
NM_001130970.2
SNV
P
1
+
1
NSMF
c.53C>A
p.Ser18Ter (p.S18X)
NM_001130971.2
SNV
P
1
+
1
NSMF
c.53C>A
p.Ser18Ter (p.S18X)
NM_001178064.2
SNV
P
1
+
1
NSMF
c.53C>A
p.Ser18Ter (p.S18X)
NM_015537.5
SNV
P
1
+
1
5 Results, 20 per Page
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