| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48445432A>T | CA392340044 | FBN1 | c.5861T>A (p.Phe1954Tyr) n.4535T>A c.860T>A (p.Phe287Tyr) c.*1624T>A (n.*1624T>A) c.1168T>A | dbSNP |
| 15 | g.48445432A>C | CA016122 | FBN1 | c.5861T>G (p.Phe1954Cys) n.4535T>G c.860T>G (p.Phe287Cys) c.*1624T>G (n.*1624T>G) c.1168T>G | ClinVar dbSNP |