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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
Search
Search criteria:
Gene:
CCNF
& Disease:
ALS1
, 4 results
Search
Reset
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1343314
CCNF
c.1918G>A
p.Val640Met (p.V640M)
NM_001761.3
M
SNV
VUS
1
+
1
1343313
CCNF
c.419G>A
p.Arg140Gln (p.R140Q)
NM_001761.3
M
SNV
VUS
1
+
1
1343314
CCNF
c.994G>A
p.Val332Met (p.V332M)
NM_001323538.2
SNV
VUS
1
+
1
1343313
CCNF
c.-506G>A
--
NM_001323538.2
SNV
VUS
1
+
1
4 Results, 20 per Page
1
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