Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432333G>ACA345148281ACTA1c.553C>T (p.Arg185Cys)
c.418C>T (p.Arg140Cys)
c.479+74C>T (n.479+74C>T)
ClinVar dbSNP
1g.229432333G>TCA16617084ACTA1c.553C>A (p.Arg185Ser)
c.418C>A (p.Arg140Ser)
c.479+74C>A (n.479+74C>A)
ClinVar dbSNP

Number of alleles fetched