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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.52353613A>C
CA346955
DNAH1
c.3460A>C (p.Lys1154Gln)
n.3721A>C
n.3625A>C
n.6609A>C
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
3
g.52353613A=
CA1364817304
DNAH1
c.3460A= (p.Lys1154=)
n.3721A=
n.3625A=
n.6609A=
dbSNP
Number of alleles fetched
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