| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48437804C>G | CA392336964 | FBN1 | c.6277G>C (p.Gly2093Arg) c.1276G>C (p.Gly426Arg) c.*2040G>C (n.*2040G>C) c.1584G>C n.397G>C | ClinVar dbSNP |
| 15 | g.48437804C>T | CA16619945 | FBN1 | c.6277G>A (p.Gly2093Arg) c.1276G>A (p.Gly426Arg) c.*2040G>A (n.*2040G>A) c.1584G>A n.397G>A | ClinVar dbSNP COSMIC |