| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48448812C>G | CA392341871 | FBN1 | c.5627G>C (p.Cys1876Ser) n.4301G>C c.626G>C (p.Cys209Ser) c.*1390G>C (n.*1390G>C) c.934G>C | ClinVar dbSNP |
| 15 | g.48448812C>T | CA16614640 | FBN1 | c.5627G>A (p.Cys1876Tyr) n.4301G>A c.626G>A (p.Cys209Tyr) c.*1390G>A (n.*1390G>A) c.934G>A | ClinVar dbSNP |