| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48537698A>C | CA016532 | FBN1 | c.649T>G (p.Trp217Gly) c.636+13T>G (n.636+13T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48537698A= | CA2175539394 | FBN1 | c.649T= (p.Trp217=) c.636+13T= (n.636+13T=) | dbSNP |
| 15 | g.48537698A>T | CA392445967 | FBN1 | c.649T>A (p.Trp217Arg) c.636+13T>A (n.636+13T>A) | dbSNP |