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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:
AP1G2
& Disease:
Tracheoesophageal Fistula
, 8 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
916555
AP1G2
c.464G>A
p.Arg155His (p.R155H)
NM_003917.5
M
SNV
LP
1
+
1
AP1G2
c.-913G>A
--
NM_001282474.2
SNV
LP
1
+
1
AP1G2
c.77G>A
p.Arg26His (p.R26H)
NM_001282475.2
SNV
LP
1
+
1
AP1G2
c.77G>A
p.Arg26His (p.R26H)
NM_001354673.2
SNV
LP
1
+
1
AP1G2
c.-742G>A
--
NM_001354674.2
SNV
LP
1
+
1
AP1G2
c.-854G>A
--
NM_001354675.2
SNV
LP
1
+
1
AP1G2
c.-792G>A
--
NM_001354677.2
SNV
LP
1
+
1
AP1G2
c.-665G>A
--
NM_001354681.2
SNV
LP
1
+
1
8 Results, 20 per Page
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