Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.149579643G>ACA114489MMADHCc.160C>T (p.Arg54Ter)
ClinVar dbSNP gnomAD v4 COSMIC
2g.149579643G>CCA348870943MMADHCc.160C>G (p.Arg54Gly)
dbSNP gnomAD v2 gnomAD v4
2g.149579643G>TCA429406878MMADHCc.160C>A (p.Arg54=)
dbSNP gnomAD v4

Number of alleles fetched