| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48468462C>T | CA16614510 | FBN1 | c.4532G>A (p.Cys1511Tyr) n.3206G>A c.*295G>A (n.*295G>A) | ClinVar dbSNP |
| 15 | g.48468462C= | CA2175518433 | FBN1 | c.4532G= (p.Cys1511=) n.3206G= c.*295G= (n.*295G=) | dbSNP dbSNP |