| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48505097del | CA2499223008 | FBN1 | c.1889del (p.Asn630ThrfsTer?) n.563del c.637-30446del (n.637-30446del) | dbSNP |
| 15 | g.48505096_48505097delinsG | CA16614669 | FBN1 | c.1888_1889delinsC (p.Asn630ProfsTer?) n.562_563delinsC c.637-30447_637-30446delinsC (n.637-30447_637-30446delinsC) | ClinVar dbSNP |