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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
6
g.52079907del
CA138932137
PKHD1
c.383del (p.Thr128IlefsTer25)
n.659del
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
6
g.52079907G=
CA3135087008
PKHD1
c.383C= (p.Thr128=)
n.659C=
dbSNP
dbSNP
Number of alleles fetched
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