| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186288518C>T | CA442641377 | F11,F11-AS1 | c.1782C>T (p.Ser594=) c.382C>T c.1620C>T (p.Ser540=) n.301C>T n.976G>A c.1785C>T (p.Ser595=) c.1689C>T (p.Ser563=) c.1515C>T (p.Ser505=) c.1737C>T (p.Ser579=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.186288518C>A | CA121761 | F11,F11-AS1 | c.1782C>A (p.Ser594Arg) c.382C>A c.1620C>A (p.Ser540Arg) n.301C>A n.976G>T c.1785C>A (p.Ser595Arg) c.1689C>A (p.Ser563Arg) c.1515C>A (p.Ser505Arg) c.1737C>A (p.Ser579Arg) | ClinVar dbSNP gnomAD v4 |