| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.58110138C>T | CA340573 | FLNB | n.2595C>T c.2452C>T (p.Arg818Ter) c.*984C>T (n.*984C>T) c.1945C>T (p.Arg649Ter) n.2597C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.58110138C= | CA1367500853 | FLNB | n.2595C= c.2452C= (p.Arg818=) c.*984C= (n.*984C=) c.1945C= (p.Arg649=) n.2597C= | dbSNP |