| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48456729C>T | CA16614417 | FBN1 | c.5330G>A (p.Cys1777Tyr) n.4004G>A c.329G>A (p.Cys110Tyr) c.*1093G>A (n.*1093G>A) c.637G>A | ClinVar dbSNP |
| 15 | g.48456729C= | CA2175509551 | FBN1 | c.5330G= (p.Cys1777=) n.4004G= c.329G= (p.Cys110=) c.*1093G= (n.*1093G=) c.637G= | dbSNP |