Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508355G>ACA275943MMACHCc.420G>A (p.Trp140Ter)
c.249G>A (p.Trp83Ter)
c.225G>A (p.Trp75Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.45508355G=CA2473783411MMACHCc.420G= (p.Trp140=)
c.249G= (p.Trp83=)
c.225G= (p.Trp75=)
 dbSNP

Number of alleles fetched