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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:
RPE65
& Disease:
Retinal Degeneration
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
374139
RPE65
c.1338+1G>A
--
NM_000329.3
M
SNV
P
3
+
6
RPE65
c.1062+1G>A
--
NM_001406857.1
SNV
P
3
+
6
RPE65
c.1062+1G>A
--
NM_001406856.1
SNV
P
3
+
6
RPE65
c.1230+1G>A
--
NM_001406853.1
SNV
P
3
+
6
4 Results, 20 per Page
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