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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
6
g.80200939G>T
CA224338
BCKDHB
c.748G>T (p.Glu250Ter)
c.538G>T (p.Glu180Ter)
n.926G>T
n.778G>T
n.865G>T
ClinVar
dbSNP
6
g.80200939G=
CA1640952036
BCKDHB
c.748G= (p.Glu250=)
c.538G= (p.Glu180=)
n.926G=
n.778G=
n.865G=
dbSNP
Number of alleles fetched
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