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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:
SLC37A4
& Disease:
GSD
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
6926
SLC37A4
c.1042_1043del
p.Leu348fs (p.L348fs)
NM_001164277.2
M
Del
P
4
+
13
SLC37A4
c.1108_1109del
p.Leu370fs (p.L370fs)
NM_001164278.2
Del
P
4
+
13
SLC37A4
c.823_824del
p.Leu275fs (p.L275fs)
NM_001164279.2
Del
P
4
+
13
SLC37A4
c.1042_1043del
p.Leu348fs (p.L348fs)
NM_001164280.2
Del
P
4
+
13
SLC37A4
c.1042_1043del
p.Leu348fs (p.L348fs)
NM_001467.6
Del
P
4
+
13
5 Results, 20 per Page
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