| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48463212del | CA16614418 | FBN1 | c.5094del (p.Tyr1699ThrfsTer16) n.3768del c.93del (p.Tyr32ThrfsTer16) c.*857del (n.*857del) c.401del | ClinVar dbSNP |
| 15 | g.48463212G= | CA2175515681 | FBN1 | c.5094C= (p.Asn1698=) n.3768C= c.93C= (p.Asn31=) c.*857C= (n.*857C=) c.401C= | dbSNP dbSNP |