| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48497298T>C | CA012911 | FBN1 | c.2261A>G (p.Tyr754Cys) n.935A>G c.637-22648A>G (n.637-22648A>G) | ClinVar dbSNP |
| 15 | g.48497298T>A | CA392335648 | FBN1 | c.2261A>T (p.Tyr754Phe) n.935A>T c.637-22648A>T (n.637-22648A>T) | dbSNP |
| 15 | g.48497298T= | CA2175521342 | FBN1 | c.2261A= (p.Tyr754=) n.935A= c.637-22648A= (n.637-22648A=) | dbSNP |