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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:
CTRCT34
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
372169
FOXE3
c.351C>G
p.Asn117Lys (p.N117K)
NM_012186.3
M
SNV
P
4
+
2
372170
FOXE3
c.307G>A
p.Glu103Lys (p.E103K)
NM_012186.3
M
SNV
P
1
+
2
1077109
FOXE3
c.959G>C
p.Ter320Ser (p.X320S)
NM_012186.3
M
SNV
P
1
+
1
1077110
FOXE3
c.958T>C
p.Ter320Arg (p.X320R)
NM_012186.3
M
SNV
P
1
+
1
193357
FOXE3
c.510C>T
p.Ala170= (p.A170=)
NM_012186.3
M
SNV
B
5
+
0
5 Results, 20 per Page
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