| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48596343A>G | CA16043496 | FBN1 | c.478T>C (p.Cys160Arg) | ClinVar dbSNP |
| 15 | g.48596343A>C | CA392446345 | FBN1 | c.478T>G (p.Cys160Gly) | ClinVar dbSNP gnomAD v2 |
| 15 | g.48596343A= | CA2175564963 | FBN1 | c.478T= (p.Cys160=) | dbSNP |