| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128338980C>A | CA281517 | FBN2 | n.209G>T n.290G>T c.3425G>T (p.Cys1142Phe) c.-26G>T (n.-26G>T) c.3326G>T (p.Cys1109Phe) c.3422G>T (p.Cys1141Phe) c.3272G>T (p.Cys1091Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128338980C= | CA1581271185 | FBN2 | n.209G= n.290G= c.3425G= (p.Cys1142=) c.-26G= (n.-26G=) c.3326G= (p.Cys1109=) c.3422G= (p.Cys1141=) c.3272G= (p.Cys1091=) | dbSNP |
| 5 | g.128338980C>T | CA360759918 | FBN2 | n.209G>A n.290G>A c.3425G>A (p.Cys1142Tyr) c.-26G>A (n.-26G>A) c.3326G>A (p.Cys1109Tyr) c.3422G>A (p.Cys1141Tyr) c.3272G>A (p.Cys1091Tyr) | ClinVar dbSNP |