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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:
ABCB1
& Disease:
EIG
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1164001
ABCB1
c.2678C>A
p.Ser893Tyr (p.S893Y)
NM_001348946.2
M
SNV
LP
1
+
0
ABCB1
c.2678C>A
p.Ser893Tyr (p.S893Y)
NM_000927.5
SNV
LP
1
+
0
ABCB1
c.2678C>A
p.Ser893Tyr (p.S893Y)
NM_001348944.2
SNV
LP
1
+
0
ABCB1
c.2888C>A
p.Ser963Tyr (p.S963Y)
NM_001348945.2
SNV
LP
1
+
0
4 Results, 20 per Page
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