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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:
BEST1
& Disease:
Isolated Macular Dystrophy
, 10 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
623772
BEST1
c.247+2del
--
NM_004183.4
M
Del
P
1
+
1
BEST1
c.247+2del
--
NM_001363592.1
Del
P
1
+
1
BEST1
c.67+2del
--
NM_001139443.2
Del
P
1
+
1
BEST1
c.67+2del
--
NM_001300787.2
Del
P
1
+
1
BEST1
c.67+2del
--
NM_001300786.2
Del
P
1
+
1
444253
BEST1
c.37C>G
p.Arg13Gly (p.R13G)
NM_004183.4
M
SNV
P
1
+
0
BEST1
c.37C>G
p.Arg13Gly (p.R13G)
NM_001363592.1
SNV
P
1
+
0
BEST1
c.-29+1416C>G
--
NM_001139443.2
SNV
P
1
+
0
BEST1
c.-29+1416C>G
--
NM_001300787.2
SNV
P
1
+
0
BEST1
c.-29+1416C>G
--
NM_001300786.2
SNV
P
1
+
0
10 Results, 20 per Page
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