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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:
SOHLH1
& Disease:
ODG5
, 6 results
Search
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
218902
SOHLH1
c.27C>G
p.Tyr9Ter (p.Y9X)
NM_001101677.2
M
SNV
P
1
+
2
SOHLH1
c.27C>G
p.Tyr9Ter (p.Y9X)
NM_001012415.3
SNV
P
1
+
2
218901
SOHLH1
c.705del
p.Lys236fs (p.K236fs)
NM_001101677.2
M
Del
P
1
+
1
SOHLH1
c.705del
p.Lys236fs (p.K236fs)
NM_001012415.3
Del
P
1
+
1
2429747
SOHLH1
c.397C>T
p.Gln133Ter (p.Q133X)
NM_001101677.2
M
SNV
LP
1
+
0
SOHLH1
c.397C>T
p.Gln133Ter (p.Q133X)
NM_001012415.3
SNV
LP
1
+
0
6 Results, 20 per Page
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