| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48510088C>T | CA16606733 | FBN1 | c.1670G>A (p.Cys557Tyr) n.344G>A c.636+27623G>A (n.636+27623G>A) | ClinVar dbSNP |
| 15 | g.48510088C>A | CA392341047 | FBN1 | c.1670G>T (p.Cys557Phe) n.344G>T c.636+27623G>T (n.636+27623G>T) | ClinVar dbSNP |