| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335544C>T | CA281512 | FBN2 | n.542G>A n.623G>A c.3758G>A (p.Cys1253Tyr) c.308G>A (p.Cys103Tyr) c.3659G>A (p.Cys1220Tyr) c.3755G>A (p.Cys1252Tyr) c.3605G>A (p.Cys1202Tyr) | ClinVar dbSNP |
| 5 | g.128335544C= | CA1581269626 | FBN2 | n.542G= n.623G= c.3758G= (p.Cys1253=) c.308G= (p.Cys103=) c.3659G= (p.Cys1220=) c.3755G= (p.Cys1252=) c.3605G= (p.Cys1202=) | dbSNP |