Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45507432T>CCA827654MMACHCc.158T>C (p.Leu53Pro)
c.-14T>C (n.-14T>C)
c.82-780T>C (n.82-780T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45507432T=CA2473783040MMACHCc.158T= (p.Leu53=)
c.-14T= (n.-14T=)
c.82-780T= (n.82-780T=)
 dbSNP

Number of alleles fetched