Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.50302132T>ACA260759810L2HGDHc.293A>T (p.His98Leu)
c.*156A>T (n.*156A>T)
n.433A>T
c.182A>T (p.His61Leu)
c.158A>T (p.His53Leu)
n.532A>T
c.-333A>T (n.-333A>T)
dbSNP gnomAD v4
14g.50302132T>CCA115109L2HGDHc.293A>G (p.His98Arg)
c.*156A>G (n.*156A>G)
n.433A>G
c.182A>G (p.His61Arg)
c.158A>G (p.His53Arg)
n.532A>G
c.-333A>G (n.-333A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched