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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.119764211A>G
CA120247
HMGCS2
c.520T>C (p.Phe174Leu)
n.416T>C
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.119764211A=
CA1141581020
HMGCS2
c.520T= (p.Phe174=)
n.416T=
dbSNP
Number of alleles fetched
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