| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48452603C>G | CA10583242 | FBN1 | c.5504G>C (p.Cys1835Ser) n.4178G>C c.503G>C (p.Cys168Ser) c.*1267G>C (n.*1267G>C) c.811G>C | ClinVar dbSNP |
| 15 | g.48452603C>T | CA015839 | FBN1 | c.5504G>A (p.Cys1835Tyr) n.4178G>A c.503G>A (p.Cys168Tyr) c.*1267G>A (n.*1267G>A) c.811G>A | ClinVar dbSNP |
| 15 | g.48452603C>A | CA392344100 | FBN1 | c.5504G>T (p.Cys1835Phe) n.4178G>T c.503G>T (p.Cys168Phe) c.*1267G>T (n.*1267G>T) c.811G>T | ClinVar dbSNP |