| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48448844G>T | CA16607089 | FBN1 | c.5595C>A (p.Cys1865Ter) n.4269C>A c.594C>A (p.Cys198Ter) c.*1358C>A (n.*1358C>A) c.902C>A | ClinVar dbSNP |
| 15 | g.48448844G= | CA2175498410 | FBN1 | c.5595C= (p.Cys1865=) n.4269C= c.594C= (p.Cys198=) c.*1358C= (n.*1358C=) c.902C= | dbSNP |