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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
10
g.13124053A>T
CA5410811
OPTN
c.941A>T (p.Gln314Leu)
c.923A>T (p.Gln308Leu)
c.770A>T (p.Gln257Leu)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
10
g.13124053A=
CA1891467669
OPTN
c.941A= (p.Gln314=)
c.923A= (p.Gln308=)
c.770A= (p.Gln257=)
dbSNP
Number of alleles fetched
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