Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508266C>TCA251789MMACHCc.331C>T (p.Arg111Ter)
c.160C>T (p.Arg54Ter)
c.136C>T (p.Arg46Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508266C=CA1141580768MMACHCc.331C= (p.Arg111=)
c.160C= (p.Arg54=)
c.136C= (p.Arg46=)
 dbSNP

Number of alleles fetched