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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:
PIK3CA
& Disease:
KTS
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
39703
PIK3CA
c.2740G>A
p.Gly914Arg (p.G914R)
NM_006218.4
M
SNV
P
7
+
8
156446
PIK3CA
c.353G>A
p.Gly118Asp (p.G118D)
NM_006218.4
M
SNV
P
16
+
5
419222
PIK3CA
c.1093G>A
p.Glu365Lys (p.E365K)
NM_006218.4
M
SNV
P
5
+
4
1098323
PIK3CA
c.2816A>G
p.Asp939Gly (p.D939G)
NM_006218.4
M
SNV
P
2
+
0
4 Results, 20 per Page
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