| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48496214A>G | CA16614664 | FBN1 | c.2305T>C (p.Cys769Arg) n.979T>C c.637-21564T>C (n.637-21564T>C) | ClinVar dbSNP |
| 15 | g.48496214A= | CA2175520562 | FBN1 | c.2305T= (p.Cys769=) n.979T= c.637-21564T= (n.637-21564T=) | dbSNP |