| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48505136A>C | CA16614446 | FBN1 | c.1849T>G (p.Cys617Gly) n.523T>G c.637-30486T>G (n.637-30486T>G) | ClinVar dbSNP |
| 15 | g.48505136A>G | CA392339187 | FBN1 | c.1849T>C (p.Cys617Arg) n.523T>C c.637-30486T>C (n.637-30486T>C) | ClinVar dbSNP |