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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:
AAT1
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
617853
FOXE3
c.334C>T
p.Pro112Ser (p.P112S)
NM_012186.3
M
SNV
LB
5
+
2
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
617851
FOXE3
c.490C>A
p.Arg164Ser (p.R164S)
NM_012186.3
M
SNV
LP
5
+
1
617852
FOXE3
c.466G>A
p.Asp156Asn (p.D156N)
NM_012186.3
M
SNV
LB
5
+
1
617854
FOXE3
c.605C>T
p.Pro202Leu (p.P202L)
NM_012186.3
M
SNV
LB
5
+
1
6 Results, 20 per Page
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