Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.128349391C>ACA16044044FBN2c.2945G>T (p.Cys982Phe)
c.2846G>T (p.Cys949Phe)
c.2942G>T (p.Cys981Phe)
c.2792G>T (p.Cys931Phe)
ClinVar dbSNP
5g.128349391C>TCA360765270FBN2c.2945G>A (p.Cys982Tyr)
c.2846G>A (p.Cys949Tyr)
c.2942G>A (p.Cys981Tyr)
c.2792G>A (p.Cys931Tyr)
ClinVar dbSNP

Number of alleles fetched