| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48505070A>T | CA16614529 | FBN1 | c.1915T>A (p.Cys639Ser) n.589T>A c.637-30420T>A (n.637-30420T>A) | ClinVar dbSNP |
| 15 | g.48505070A>G | CA392339045 | FBN1 | c.1915T>C (p.Cys639Arg) n.589T>C c.637-30420T>C (n.637-30420T>C) | ClinVar dbSNP COSMIC |