| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48465825C>T | CA015420 | FBN1 | c.4781G>A (p.Gly1594Asp) n.3455G>A c.*544G>A (n.*544G>A) c.88G>A | ClinVar dbSNP |
| 15 | g.48465825C>G | CA392351703 | FBN1 | c.4781G>C (p.Gly1594Ala) n.3455G>C c.*544G>C (n.*544G>C) c.88G>C | dbSNP |
| 15 | g.48465825C= | CA2175517291 | FBN1 | c.4781G= (p.Gly1594=) n.3455G= c.*544G= (n.*544G=) c.88G= | dbSNP |