Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.80200939G>TCA224338BCKDHBc.748G>T (p.Glu250Ter)
c.538G>T (p.Glu180Ter)
n.926G>T
n.778G>T
n.865G>T
ClinVar dbSNP
6g.80200939G=CA1640952036BCKDHBc.748G= (p.Glu250=)
c.538G= (p.Glu180=)
n.926G=
n.778G=
n.865G=
dbSNP

Number of alleles fetched