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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
6
g.80169013C>T
CA121791
BCKDHB
c.616C>T (p.His206Tyr)
c.406C>T (p.His136Tyr)
n.700C>T
n.646C>T
n.639C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
6
g.80169013C=
CA1640937814
BCKDHB
c.616C= (p.His206=)
c.406C= (p.His136=)
n.700C=
n.646C=
n.639C=
dbSNP
Number of alleles fetched
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