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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
6
g.52079920G>A
CA234592
PKHD1
c.370C>T (p.Arg124Ter)
n.646C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
6
g.52079920G>T
CA450421717
PKHD1
c.370C>A (p.Arg124=)
n.646C>A
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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