| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48430758G>A | CA16602237 | FBN1 | c.6784C>T (p.Gln2262Ter) c.*235C>T (n.*235C>T) n.393C>T c.1888C>T (n.1888C>T) c.2091C>T n.71C>T | ClinVar dbSNP |
| 15 | g.48430758G= | CA2175502782 | FBN1 | c.6784C= (p.Gln2262=) c.*235C= (n.*235C=) n.393C= c.1888C= (n.1888C=) c.2091C= n.71C= | dbSNP |