Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48465574A>C | CA16619955 | FBN1 | c.4936T>G (p.Cys1646Gly) n.3610T>G c.*699T>G (n.*699T>G) c.243T>G | ClinVar dbSNP |
15 | g.48465574A>T | CA392351064 | FBN1 | c.4936T>A (p.Cys1646Ser) n.3610T>A c.*699T>A (n.*699T>A) c.243T>A | ClinVar dbSNP |