| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48508633A>G | CA392340333 | FBN1 | c.1786T>C (p.Cys596Arg) n.460T>C c.636+29078T>C (n.636+29078T>C) | ClinVar dbSNP |
| 15 | g.48508633A>C | CA16603266 | FBN1 | c.1786T>G (p.Cys596Gly) n.460T>G c.636+29078T>G (n.636+29078T>G) | ClinVar dbSNP |