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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:
FARSB
& Disease:
CIRRH
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
545664
FARSB
c.1202G>A
p.Arg401Gln (p.R401Q)
NM_005687.5
M
SNV
P
2
+
1
545694
FARSB
c.755T>C
p.Phe252Ser (p.F252S)
NM_005687.5
M
SNV
P
2
+
1
545642
FARSB
c.1381A>C
p.Thr461Pro (p.T461P)
NM_005687.5
M
SNV
P
2
+
1
545695
FARSB
c.226T>C
p.Cys76Arg (p.C76R)
NM_005687.5
M
SNV
P
1
+
0
545655
FARSB
c.784A>G
p.Lys262Glu (p.K262E)
NM_005687.5
M
SNV
P
1
+
0
5 Results, 20 per Page
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