Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229433100C>TCA344557ACTA1c.16G>A (p.Glu6Lys)
c.-6-220G>A (n.-6-220G>A)
 ClinVar dbSNP COSMIC
1g.229433100C>ACA1442951ACTA1c.16G>T (p.Glu6Ter)
c.-6-220G>T (n.-6-220G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched