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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:
GJB2
& Disease:
DFNB104
, 2 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
17004
GJB2
c.35del
p.Gly12fs (p.G12fs)
NM_004004.6
M
Del
P
17
+
93
GJB2
c.35delG
--
NM_004004.6
M
Del
P
17
+
93
2 Results, 20 per Page
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