Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432371G>ACA345148520ACTA1c.515C>T (p.Ala172Val)
c.380C>T (p.Ala127Val)
c.479+36C>T (n.479+36C>T)
 ClinVar dbSNP gnomAD v4
1g.229432371G>TCA151571ACTA1c.515C>A (p.Ala172Glu)
c.380C>A (p.Ala127Glu)
c.479+36C>A (n.479+36C>A)
 ClinVar dbSNP

Number of alleles fetched