| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48483867G>C | CA16042964 | FBN1 | c.3789C>G (p.Cys1263Trp) n.2463C>G c.637-9217C>G (n.637-9217C>G) | ClinVar dbSNP |
| 15 | g.48483867G= | CA2175509494 | FBN1 | c.3789C= (p.Cys1263=) n.2463C= c.637-9217C= (n.637-9217C=) | dbSNP |