| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48495237G>A | CA16044279 | FBN1 | c.2563C>T (p.Gln855Ter) n.1237C>T c.637-20587C>T (n.637-20587C>T) | ClinVar dbSNP |
| 15 | g.48495237G= | CA2175527174 | FBN1 | c.2563C= (p.Gln855=) n.1237C= c.637-20587C= (n.637-20587C=) | dbSNP |