Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.80168944C>TCA224315BCKDHBc.547C>T (p.Arg183Trp)
c.337C>T (p.Arg113Trp)
n.631C>T
n.577C>T
n.570C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.80168944C>GCA3902649BCKDHBc.547C>G (p.Arg183Gly)
c.337C>G (p.Arg113Gly)
n.631C>G
n.577C>G
n.570C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched