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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:
FUT2
& Disease:
B12QTL1
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
12945
FUT2
c.461G>A
p.Trp154Ter (p.W154X)
NM_000511.6
M
SNV
B
2
+
5
FUT2
c.461G>A
p.Trp154Ter (p.W154X)
NM_001097638.3
SNV
B
2
+
5
225366
FUT2
c.604C>T
p.Arg202Ter (p.R202X)
NM_000511.6
M
SNV
P
1
+
3
FUT2
c.604C>T
p.Arg202Ter (p.R202X)
NM_001097638.3
SNV
P
1
+
3
4 Results, 20 per Page
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