| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 15 | g.48510065G= | CA2175529868 | FBN1 | c.1693C= (p.Arg565=) n.367C= c.636+27646C= (n.636+27646C=) | dbSNP |