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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:
FOXE3
& Disease:
AAT11
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
375651
FOXE3
c.457G>C
p.Asp153His (p.D153H)
NM_012186.3
M
SNV
P
6
+
1
375652
FOXE3
c.410G>A
p.Gly137Asp (p.G137D)
NM_012186.3
M
SNV
LP
3
+
1
193357
FOXE3
c.510C>T
p.Ala170= (p.A170=)
NM_012186.3
M
SNV
B
5
+
0
650898
FOXE3
c.404A>G
p.Glu135Gly (p.E135G)
NM_012186.3
M
SNV
VUS
4
+
0
4 Results, 20 per Page
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