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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
10
g.13132098A>G
CA254105
OPTN
c.1433A>G (p.Glu478Gly)
c.1415A>G (p.Glu472Gly)
n.289A>G
c.1262A>G (p.Glu421Gly)
ClinVar
dbSNP
gnomAD v4
10
g.13132098A=
CA1891481386
OPTN
c.1433A= (p.Glu478=)
c.1415A= (p.Glu472=)
n.289A=
c.1262A= (p.Glu421=)
dbSNP
Number of alleles fetched
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