| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128395182C>T | CA281513 | FBN2 | n.878G>A c.1171G>A (p.Glu391Lys) c.1072G>A (p.Glu358Lys) c.1168G>A (p.Glu390Lys) c.1079-1814G>A (n.1079-1814G>A) | ClinVar dbSNP |
| 5 | g.128395182C= | CA1581295491 | FBN2 | n.878G= c.1171G= (p.Glu391=) c.1072G= (p.Glu358=) c.1168G= (p.Glu390=) c.1079-1814G= (n.1079-1814G=) | dbSNP |