| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48465573C>A | CA392351061 | FBN1 | c.4937G>T (p.Cys1646Phe) n.3611G>T c.*700G>T (n.*700G>T) c.244G>T | ClinVar dbSNP |
| 15 | g.48465573C>T | CA015476 | FBN1 | c.4937G>A (p.Cys1646Tyr) n.3611G>A c.*700G>A (n.*700G>A) c.244G>A | ClinVar dbSNP |
| 15 | g.48465573C= | CA2175517170 | FBN1 | c.4937G= (p.Cys1646=) n.3611G= c.*700G= (n.*700G=) c.244G= | dbSNP |
| 15 | g.48465573C>G | CA392351062 | FBN1 | c.4937G>C (p.Cys1646Ser) n.3611G>C c.*700G>C (n.*700G>C) c.244G>C | ClinVar dbSNP |