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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.119759915C>T
CA120256
HMGCS2
c.634G>A (p.Gly212Arg)
n.530G>A
c.560-633G>A (n.560-633G>A)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.119759915C=
CA1141581019
HMGCS2
c.634G= (p.Gly212=)
n.530G=
c.560-633G= (n.560-633G=)
dbSNP
Number of alleles fetched
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