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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:
ALMS1
& Disease:
Eye Disease
, 3 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1180705
ALMS1
c.6711dup
p.Ser2238fs (p.S2238fs)
NM_001378454.1
M
Dup
P
2
+
0
ALMS1
c.6714dup
p.Ser2239fs (p.S2239fs)
NM_015120.4
Dup
P
2
+
0
ALMS1
c.6714dupA
--
NM_015120.4
Dup
P
2
+
0
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