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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:
PLA2G6
& Disease:
SPAX
, 9 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
374459
PLA2G6
c.209G>A
p.Arg70Gln (p.R70Q)
NM_003560.4
M
SNV
P
2
+
2
PLA2G6
c.-282G>A
--
NM_001349868.2
SNV
P
2
+
2
PLA2G6
c.-457G>A
--
NM_001349869.2
SNV
P
2
+
2
PLA2G6
c.209G>A
p.Arg70Gln (p.R70Q)
NM_001004426.3
SNV
P
2
+
2
PLA2G6
c.209G>A
p.Arg70Gln (p.R70Q)
NM_001199562.3
SNV
P
2
+
2
PLA2G6
c.209G>A
p.Arg70Gln (p.R70Q)
NM_001349864.2
SNV
P
2
+
2
PLA2G6
c.209G>A
p.Arg70Gln (p.R70Q)
NM_001349865.2
SNV
P
2
+
2
PLA2G6
c.209G>A
p.Arg70Gln (p.R70Q)
NM_001349866.2
SNV
P
2
+
2
PLA2G6
c.-457G>A
--
NM_001349867.2
SNV
P
2
+
2
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