| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335543A>C | CA281518 | FBN2 | n.543T>G n.624T>G c.3759T>G (p.Cys1253Trp) c.309T>G (p.Cys103Trp) c.3660T>G (p.Cys1220Trp) c.3756T>G (p.Cys1252Trp) c.3606T>G (p.Cys1202Trp) | ClinVar dbSNP |
| 5 | g.128335543A= | CA1581269625 | FBN2 | n.543T= n.624T= c.3759T= (p.Cys1253=) c.309T= (p.Cys103=) c.3660T= (p.Cys1220=) c.3756T= (p.Cys1252=) c.3606T= (p.Cys1202=) | dbSNP |