| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.58108461C>T | CA341838 | FLNB | n.2088C>T c.1945C>T (p.Arg649Ter) c.*477C>T (n.*477C>T) c.1438C>T (p.Arg480Ter) n.2090C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.58108461C= | CA1367500125 | FLNB | n.2088C= c.1945C= (p.Arg649=) c.*477C= (n.*477C=) c.1438C= (p.Arg480=) n.2090C= | dbSNP |