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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:
CYP26C1
& Disease:
BONH
, 2 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
496732
CYP26C1
c.845_851dup
p.Gln284fs (p.Q284fs)
NM_183374.3
M
Dup
P
2
+
4
496733
CYP26C1
c.356A>C
p.Gln119Pro (p.Q119P)
NM_183374.3
M
SNV
LB
1
+
1
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