| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48508693A>G | CA392340654 | FBN1 | c.1726T>C (p.Cys576Arg) n.400T>C c.636+29018T>C (n.636+29018T>C) | ClinVar dbSNP |
| 15 | g.48508693A>T | CA392340656 | FBN1 | c.1726T>A (p.Cys576Ser) n.400T>A c.636+29018T>A (n.636+29018T>A) | ClinVar dbSNP |
| 15 | g.48508693A>C | CA012523 | FBN1 | c.1726T>G (p.Cys576Gly) n.400T>G c.636+29018T>G (n.636+29018T>G) | ClinVar dbSNP |