| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48487101G>A | CA392324950 | FBN1 | c.3563C>T (p.Ser1188Leu) n.2237C>T c.637-12451C>T (n.637-12451C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48487101G>T | CA16603324 | FBN1 | c.3563C>A (p.Ser1188Ter) n.2237C>A c.637-12451C>A (n.637-12451C>A) | ClinVar dbSNP gnomAD v4 COSMIC |