| 15 | g.48510065G>C | CA392340965 | FBN1 | c.1693C>G (p.Arg565Gly)
n.367C>G
c.636+27646C>G (n.636+27646C>G)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.48510065G>A | CA012467 | FBN1 | c.1693C>T (p.Arg565Ter)
n.367C>T
c.636+27646C>T (n.636+27646C>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
