| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48497380A>C | CA392335884 | FBN1 | c.2179T>G (p.Cys727Gly) n.853T>G c.637-22730T>G (n.637-22730T>G) | ClinVar dbSNP |
| 15 | g.48497380A>G | CA16619970 | FBN1 | c.2179T>C (p.Cys727Arg) n.853T>C c.637-22730T>C (n.637-22730T>C) | ClinVar dbSNP |
| 15 | g.48497380A>T | CA392335887 | FBN1 | c.2179T>A (p.Cys727Ser) n.853T>A c.637-22730T>A (n.637-22730T>A) | ClinVar dbSNP |