| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48474567A>T | CA014710 | FBN1 | c.4048T>A (p.Cys1350Ser) n.2722T>A c.720T>A (p.Ala240=) | ClinVar dbSNP |
| 15 | g.48474567A>G | CA16616744 | FBN1 | c.4048T>C (p.Cys1350Arg) n.2722T>C c.720T>C (p.Ala240=) | ClinVar dbSNP |
| 15 | g.48474567A>C | CA392320481 | FBN1 | c.4048T>G (p.Cys1350Gly) n.2722T>G c.720T>G (p.Ala240=) | ClinVar dbSNP |