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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:
PTEN
& Disease:
Uterine Corpus Cancer
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
185713
PTEN
c.170T>G
p.Leu57Trp (p.L57W)
NM_000314.8
M
SNV
LP
2
+
3
PTEN
c.689T>G
p.Leu230Trp (p.L230W)
NM_001304717.5
SNV
LP
2
+
3
PTEN
c.-541-5528T>G
--
NM_001304718.2
SNV
LP
2
+
3
3 Results, 20 per Page
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