Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41410665C>ACA9461009BCKDHAc.137C>A (p.Ser46Ter)
c.71C>A (p.Ser24Ter)
n.157C>A
c.239C>A (p.Ser80Ter)
n.379C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41410665C>GCA406004592BCKDHAc.137C>G (p.Ser46Ter)
c.71C>G (p.Ser24Ter)
n.157C>G
c.239C>G (p.Ser80Ter)
n.379C>G
dbSNP

Number of alleles fetched