| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48436986A>T | CA16614408 | FBN1 | c.6471T>A (p.Tyr2157Ter) n.80T>A c.1470T>A (p.Tyr490Ter) c.*2234T>A (n.*2234T>A) c.1778T>A | ClinVar dbSNP |
| 15 | g.48436986A= | CA2175502145 | FBN1 | c.6471T= (p.Tyr2157=) n.80T= c.1470T= (p.Tyr490=) c.*2234T= (n.*2234T=) c.1778T= | dbSNP |