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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:
ETV2
& Disease:
SCDO1
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1162784
ETV2
c.350del
p.Gly117fs (p.G117fs)
NM_014209.4
M
Del
LP
3
+
0
1162783
ETV2
c.757G>T
p.Asp253Tyr (p.D253Y)
NM_014209.4
M
SNV
LP
3
+
0
1162784
ETV2
c.154+690del
--
NM_001304549.2
Del
LP
3
+
0
ETV2
c.71del
p.Gly24fs (p.G24fs)
NM_001300974.2
Del
LP
3
+
0
1162783
ETV2
c.196G>T
p.Asp66Tyr (p.D66Y)
NM_001304549.2
SNV
LP
3
+
0
ETV2
c.478G>T
p.Asp160Tyr (p.D160Y)
NM_001300974.2
SNV
LP
3
+
0
6 Results, 20 per Page
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