| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63438651G>A | CA315400 | KCNQ2 | c.997C>T (p.Arg333Trp) n.735C>T n.23C>T c.478C>T (p.Arg160Trp) c.655C>T (p.Arg219Trp) n.1123C>T c.362C>T c.141C>T c.470C>T (n.470C>T) c.871C>T (p.Arg291Trp) c.928C>T (p.Arg310Trp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63438651G= | CA2374791094 | KCNQ2 | c.997C= (p.Arg333=) n.735C= n.23C= c.478C= (p.Arg160=) c.655C= (p.Arg219=) n.1123C= c.362C= c.141C= c.470C= (n.470C=) c.871C= (p.Arg291=) c.928C= (p.Arg310=) | dbSNP |