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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:
SNAP25
& Disease:
DEE2
, 11 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1707536
SNAP25
c.596C>A
p.Ala199Glu (p.A199E)
NM_130811.4
M
SNV
P
1
+
1
SNAP25
c.596C>A
p.Ala199Glu (p.A199E)
NM_001322902.2
SNV
P
1
+
1
SNAP25
c.596C>A
p.Ala199Glu (p.A199E)
NM_001322903.2
SNV
P
1
+
1
SNAP25
c.596C>A
p.Ala199Glu (p.A199E)
NM_001322904.2
SNV
P
1
+
1
SNAP25
c.596C>A
p.Ala199Glu (p.A199E)
NM_001322905.2
SNV
P
1
+
1
SNAP25
c.596C>A
p.Ala199Glu (p.A199E)
NM_001322906.2
SNV
P
1
+
1
SNAP25
c.596C>A
p.Ala199Glu (p.A199E)
NM_001322907.2
SNV
P
1
+
1
SNAP25
c.596C>A
p.Ala199Glu (p.A199E)
NM_001322908.2
SNV
P
1
+
1
SNAP25
c.596C>A
p.Ala199Glu (p.A199E)
NM_001322909.2
SNV
P
1
+
1
SNAP25
c.596C>A
p.Ala199Glu (p.A199E)
NM_001322910.2
SNV
P
1
+
1
SNAP25
c.596C>A
p.Ala199Glu (p.A199E)
NM_003081.5
SNV
P
1
+
1
11 Results, 20 per Page
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