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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:
PCDHGA8
& Disease:
NEDGS
, 7 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1693119
PCDHGA8
c.2425-7495dup
--
NM_032088.2
M
Dup
LP
1
+
1
1687018
PCDHGA8
c.2425-8185C>G
--
NM_032088.2
M
SNV
P
1
+
1
1687019
PCDHGA8
c.2425-9516C>T
--
NM_032088.2
M
SNV
P
1
+
1
1687020
PCDHGA8
c.2425-8171C>T
--
NM_032088.2
M
SNV
P
1
+
1
1687021
PCDHGA8
c.2425-9310del
--
NM_032088.2
M
Del
P
1
+
1
1687022
PCDHGA8
c.2425-8391C>T
--
NM_032088.2
M
SNV
P
1
+
1
1802232
PCDHGA8
c.2425-8951_2425-8872del
--
NM_032088.2
M
Del
LP
1
+
1
7 Results, 20 per Page
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