| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48503918C>T | CA16614668 | FBN1 | c.1982G>A (p.Cys661Tyr) n.656G>A c.637-29268G>A (n.637-29268G>A) | ClinVar dbSNP |
| 15 | g.48503918C= | CA2175526715 | FBN1 | c.1982G= (p.Cys661=) n.656G= c.637-29268G= (n.637-29268G=) | dbSNP |