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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:
ACTA2
& Disease:
ATORS
, 11 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
374148
ACTA2
c.1003C>G
p.Pro335Ala (p.P335A)
NM_001613.4
M
SNV
VUS
1
+
1
ACTA2
c.1003C>G
p.Pro335Ala (p.P335A)
NM_001141945.3
SNV
VUS
1
+
1
ACTA2
c.1003C>G
p.Pro335Ala (p.P335A)
NM_001320855.2
SNV
VUS
1
+
1
ACTA2
c.1003C>G
p.Pro335Ala (p.P335A)
NM_001406462.1
SNV
VUS
1
+
1
ACTA2
c.1003C>G
p.Pro335Ala (p.P335A)
NM_001406463.1
SNV
VUS
1
+
1
ACTA2
c.1003C>G
p.Pro335Ala (p.P335A)
NM_001406464.1
SNV
VUS
1
+
1
ACTA2
c.892C>G
p.Pro298Ala (p.P298A)
NM_001406466.1
SNV
VUS
1
+
1
ACTA2
c.874C>G
p.Pro292Ala (p.P292A)
NM_001406467.1
SNV
VUS
1
+
1
ACTA2
c.874C>G
p.Pro292Ala (p.P292A)
NM_001406468.1
SNV
VUS
1
+
1
ACTA2
c.874C>G
p.Pro292Ala (p.P292A)
NM_001406469.1
SNV
VUS
1
+
1
ACTA2
c.811C>G
p.Pro271Ala (p.P271A)
NM_001406471.1
SNV
VUS
1
+
1
11 Results, 20 per Page
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