| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48534131A>C | CA16614684 | FBN1 | c.811T>G (p.Cys271Gly) c.636+3580T>G (n.636+3580T>G) | ClinVar dbSNP |
| 15 | g.48534131A= | CA2175536891 | FBN1 | c.811T= (p.Cys271=) c.636+3580T= (n.636+3580T=) | dbSNP |
| 15 | g.48534131A>T | CA392352506 | FBN1 | c.811T>A (p.Cys271Ser) c.636+3580T>A (n.636+3580T>A) | ClinVar dbSNP |