| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48448768C>T | CA392341636 | FBN1 | c.5671G>A (p.Asp1891Asn) n.4345G>A c.670G>A (p.Asp224Asn) c.*1434G>A (n.*1434G>A) c.978G>A | ClinVar dbSNP |
| 15 | g.48448768C>G | CA015930 | FBN1 | c.5671G>C (p.Asp1891His) n.4345G>C c.670G>C (p.Asp224His) c.*1434G>C (n.*1434G>C) c.978G>C | ClinVar dbSNP |