| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48503811G>A | CA16614443 | FBN1 | c.2089C>T (p.Gln697Ter) n.763C>T c.637-29161C>T (n.637-29161C>T) | ClinVar dbSNP |
| 15 | g.48503811G= | CA2175526454 | FBN1 | c.2089C= (p.Gln697=) n.763C= c.637-29161C= (n.637-29161C=) | dbSNP |