| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48463099C>T | CA16614644 | FBN1 | c.5207G>A (p.Cys1736Tyr) n.3881G>A c.206G>A (p.Cys69Tyr) c.*970G>A (n.*970G>A) c.514G>A | ClinVar dbSNP |
| 15 | g.48463099C= | CA2175515476 | FBN1 | c.5207G= (p.Cys1736=) n.3881G= c.206G= (p.Cys69=) c.*970G= (n.*970G=) c.514G= | dbSNP |