| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48474299C>T | CA392320159 | FBN1 | c.4166G>A (p.Cys1389Tyr) n.2840G>A c.838G>A (p.Val280Ile) | ClinVar dbSNP |
| 15 | g.48474299C>G | CA16614806 | FBN1 | c.4166G>C (p.Cys1389Ser) n.2840G>C c.838G>C (p.Val280Leu) | ClinVar dbSNP |