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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:
ATP1A2
& Disease:
HF
, 2 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
562228
ATP1A2
c.2105_2106del
p.Cys702fs (p.C702fs)
NM_000702.4
M
Del
P
5
+
1
586989
ATP1A2
c.835del
p.Arg279fs (p.R279fs)
NM_000702.4
M
Del
P
5
+
1
2 Results, 20 per Page
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