| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48437362A>C | CA016342 | FBN1 | c.6339T>G (p.Tyr2113Ter) c.1338T>G (p.Tyr446Ter) c.*2102T>G (n.*2102T>G) c.1646T>G | ClinVar dbSNP |
| 15 | g.48437362A>G | CA490019274 | FBN1 | c.6339T>C (p.Tyr2113=) c.1338T>C (p.Tyr446=) c.*2102T>C (n.*2102T>C) c.1646T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |