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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:
FOXP4
& Disease:
Ventricular Septal Defect
, 6 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1472670
FOXP4
c.1540G>A
p.Ala514Thr (p.A514T)
NM_001012426.2
M
SNV
P
2
+
0
242887
FOXP4
c.815del
p.Leu272fs (p.L272fs)
NM_001012426.2
M
Del
LP
1
+
0
1472670
FOXP4
c.1534G>A
p.Ala512Thr (p.A512T)
NM_001012427.2
SNV
P
2
+
0
FOXP4
c.1501G>A
p.Ala501Thr (p.A501T)
NM_138457.3
SNV
P
2
+
0
242887
FOXP4
c.809del
p.Leu270fs (p.L270fs)
NM_001012427.2
Del
LP
1
+
0
FOXP4
c.812del
p.Leu271fs (p.L271fs)
NM_138457.3
Del
LP
1
+
0
6 Results, 20 per Page
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