| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.9968482G>A | CA115868 | SBF2 | c.163C>T (p.Arg55Ter) n.1609C>T c.1459C>T (p.Arg487Ter) c.1345C>T (p.Arg449Ter) c.*81C>T (n.*81C>T) c.1066C>T (p.Arg356Ter) c.1321C>T (p.Arg441Ter) c.167C>T (p.Ala56Val) c.1330C>T (p.Arg444Ter) c.278C>T n.1374C>T c.1318C>T (p.Arg440Ter) n.1597C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.9968482G>T | CA473067262 | SBF2 | c.163C>A (p.Arg55=) n.1609C>A c.1459C>A (p.Arg487=) c.1345C>A (p.Arg449=) c.*81C>A (n.*81C>A) c.1066C>A (p.Arg356=) c.1321C>A (p.Arg441=) c.167C>A (p.Ala56Glu) c.1330C>A (p.Arg444=) c.278C>A n.1374C>A c.1318C>A (p.Arg440=) n.1597C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |