| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48441798C>T | CA16042943 | FBN1 | c.6086G>A (p.Cys2029Tyr) c.1085G>A (p.Cys362Tyr) c.*1849G>A (n.*1849G>A) c.1393G>A n.206G>A | ClinVar dbSNP |
| 15 | g.48441798C= | CA2175508958 | FBN1 | c.6086G= (p.Cys2029=) c.1085G= (p.Cys362=) c.*1849G= (n.*1849G=) c.1393G= n.206G= | dbSNP |