Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45507491C>TCA312728MMACHCc.217C>T (p.Arg73Ter)
c.46C>T (p.Arg16Ter)
c.82-721C>T (n.82-721C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45507491C=CA2473783060MMACHCc.217C= (p.Arg73=)
c.46C= (p.Arg16=)
c.82-721C= (n.82-721C=)
 dbSNP

Number of alleles fetched