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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:
DNMT3A
& Disease:
Melanoma
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
2203023
DNMT3A
c.2245C>T
p.Arg749Cys (p.R749C)
NM_022552.5
M
SNV
P
2
+
3
DNMT3A
c.1789C>T
p.Arg597Cys (p.R597C)
NM_001320893.1
SNV
P
2
+
3
DNMT3A
c.1576C>T
p.Arg526Cys (p.R526C)
NM_001375819.1
SNV
P
2
+
3
DNMT3A
c.1678C>T
p.Arg560Cys (p.R560C)
NM_153759.3
SNV
P
2
+
3
DNMT3A
c.2245C>T
p.Arg749Cys (p.R749C)
NM_175629.2
SNV
P
2
+
3
5 Results, 20 per Page
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