| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48468526C>A | CA16614646 | FBN1 | c.4468G>T (p.Glu1490Ter) n.3142G>T c.*231G>T (n.*231G>T) | ClinVar dbSNP COSMIC |
| 15 | g.48468526C>T | CA392353818 | FBN1 | c.4468G>A (p.Glu1490Lys) n.3142G>A c.*231G>A (n.*231G>A) | ClinVar dbSNP |