Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45508974G>ACA223195MMACHCc.608G>A (p.Trp203Ter)
c.437G>A (p.Trp146Ter)
c.413G>A (p.Trp138Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.45508974G=CA1144232805MMACHCc.608G= (p.Trp203=)
c.437G= (p.Trp146=)
c.413G= (p.Trp138=)
dbSNP

Number of alleles fetched