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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:
IQCE
& Disease:
SD1
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
638149
IQCE
c.895_904delCGGAGTGTCC
--
NM_152558.5
M
Del
P
5
+
1
IQCE
c.895_904del
p.Val301fs (p.V301fs)
NM_152558.5
M
Del
P
5
+
1
IQCE
c.895_904del
p.Val301fs (p.V301fs)
NM_001287499.2
Del
P
5
+
1
IQCE
c.847_856del
p.Val285fs (p.V285fs)
NM_001287500.2
Del
P
5
+
1
IQCE
c.700_709del
p.Val236fs (p.V236fs)
NM_001287501.2
Del
P
5
+
1
IQCE
c.700_709del
p.Val236fs (p.V236fs)
NM_001287502.2
Del
P
5
+
1
6 Results, 20 per Page
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