| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.141528926G>A | CA16604818 | DIAPH1 | c.2794C>T (p.Arg932Ter) c.2662C>T (p.Arg888Ter) c.2767C>T (p.Arg923Ter) n.294C>T n.367C>T n.420C>T c.2758C>T (p.Arg920Ter) c.2728C>T (p.Arg910Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.141528926G= | CA1587240171 | DIAPH1 | c.2794C= (p.Arg932=) c.2662C= (p.Arg888=) c.2767C= (p.Arg923=) n.294C= n.367C= n.420C= c.2758C= (p.Arg920=) c.2728C= (p.Arg910=) | dbSNP |