| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48485418C>T | CA014399 | FBN1 | c.3668G>A (p.Cys1223Tyr) n.2342G>A c.637-10768G>A (n.637-10768G>A) | ClinVar dbSNP |
| 15 | g.48485418C>A | CA014439 | FBN1 | c.3668G>T (p.Cys1223Phe) n.2342G>T c.637-10768G>T (n.637-10768G>T) | ClinVar dbSNP |
| 15 | g.48485418C= | CA2175511842 | FBN1 | c.3668G= (p.Cys1223=) n.2342G= c.637-10768G= (n.637-10768G=) | dbSNP |