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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:
ACADL
& Disease:
ACADVLD
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
632340
ACADL
c.24dup
p.Ser9fs (p.S9fs)
NM_001608.4
M
Dup
VUS
1
+
0
973447
ACADL
c.799C>T
p.Arg267Trp (p.R267W)
NM_001608.4
M
SNV
LB
1
+
0
593544
ACADL
c.722G>C
p.Gly241Ala (p.G241A)
NM_001608.4
M
SNV
LB
1
+
0
632339
ACADL
c.928_933delinsCATGAATGTTATGTTT
p.Thr310fs (p.T310fs)
NM_001608.4
M
Indel
LB
1
+
0
333988
ACADL
c.*621G>A
--
NM_001608.4
M
SNV
VUS
1
+
0
5 Results, 20 per Page
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