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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:
CELA2A
& Disease:
HYTG1
, 4 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
633592
CELA2A
c.361G>A
p.Asp121Asn (p.D121N)
NM_033440.3
M
SNV
P
5
+
1
633593
CELA2A
c.253C>A
p.Leu85Met (p.L85M)
NM_033440.3
M
SNV
P
5
+
1
633594
CELA2A
c.639+1G>C
--
NM_033440.3
M
SNV
P
5
+
1
633595
CELA2A
c.209C>T
p.Thr70Met (p.T70M)
NM_033440.3
M
SNV
P
5
+
1
4 Results, 20 per Page
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