| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48472622T>C | CA16042874 | FBN1 | c.4265A>G (p.Asn1422Ser) n.232A>G n.2939A>G c.*28A>G (n.*28A>G) | ClinVar dbSNP |
| 15 | g.48472622T= | CA2175492296 | FBN1 | c.4265A= (p.Asn1422=) n.232A= n.2939A= c.*28A= (n.*28A=) | dbSNP |