Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508838T>CCA312734MMACHCc.472T>C (p.Phe158Leu)
c.301T>C (p.Phe101Leu)
c.277T>C (p.Phe93Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.45508838T=CA1143474430MMACHCc.472T= (p.Phe158=)
c.301T= (p.Phe101=)
c.277T= (p.Phe93=)
 dbSNP

Number of alleles fetched