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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:
TRAPPC9
& Disease:
Autosomal Recessive Intellectual Developmental Disorder
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1683498
TRAPPC9
c.1994dup
p.Val666fs (p.V666fs)
NM_001160372.4
M
Dup
P
2
+
0
TRAPPC9
c.1967dup
p.Val657fs (p.V657fs)
NM_001321646.2
Dup
P
2
+
0
TRAPPC9
c.2015dup
p.Val673fs (p.V673fs)
NM_001374682.1
Dup
P
2
+
0
TRAPPC9
c.1994dup
p.Val666fs (p.V666fs)
NM_001374683.1
Dup
P
2
+
0
TRAPPC9
c.1850dup
p.Val618fs (p.V618fs)
NM_001374684.1
Dup
P
2
+
0
TRAPPC9
c.1994dup
p.Val666fs (p.V666fs)
NM_031466.8
Dup
P
2
+
0
6 Results, 20 per Page
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