Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.48474369C>TCA014760FBN1c.4096G>A (p.Glu1366Lys)
n.2770G>A
c.768G>A (p.Thr256=)
ClinVar dbSNP gnomAD v4 COSMIC
15g.48474369C>GCA052073FBN1c.4096G>C (p.Glu1366Gln)
n.2770G>C
c.768G>C (p.Thr256=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched