| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48437872C>T | CA392337145 | FBN1 | c.6209G>A (p.Cys2070Tyr) c.1208G>A (p.Cys403Tyr) c.*1972G>A (n.*1972G>A) c.1516G>A n.329G>A | ClinVar dbSNP |
| 15 | g.48437872C>A | CA16614630 | FBN1 | c.6209G>T (p.Cys2070Phe) c.1208G>T (p.Cys403Phe) c.*1972G>T (n.*1972G>T) c.1516G>T n.329G>T | ClinVar dbSNP |