Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508966G>ACA312736MMACHCc.600G>A (p.Trp200Ter)
c.429G>A (p.Trp143Ter)
c.405G>A (p.Trp135Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.45508966G=CA2473783742MMACHCc.600G= (p.Trp200=)
c.429G= (p.Trp143=)
c.405G= (p.Trp135=)
 dbSNP

Number of alleles fetched