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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.119764231T>C
CA120266
HMGCS2
c.500A>G (p.Tyr167Cys)
n.396A>G
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.119764231T=
CA1141581021
HMGCS2
c.500A= (p.Tyr167=)
n.396A=
dbSNP
Number of alleles fetched
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