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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:
CP
& Disease:
HPS1
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
343744
CP
c.*583T>C
--
NM_000096.4
M
SNV
VUS
4
+
0
343740
CP
c.*828dup
--
NM_000096.4
M
Dup
B
3
+
0
343749
CP
c.*137C>T
--
NM_000096.4
M
SNV
LB
3
+
0
128841
CP
c.2991T>C
p.His997= (p.H997=)
NM_000096.4
M
SNV
LB
3
+
0
128842
CP
c.3182-4A>G
--
NM_000096.4
M
SNV
LB
3
+
0
5 Results, 20 per Page
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