| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444764dup | CA342513 | KCNQ2 | c.585dup (p.Ala196CysfsTer?) n.323dup c.66dup (p.Ala23CysfsTer?) c.243dup (p.Ala82CysfsTer?) n.711dup n.427dup c.6dup (p.Ala3CysfsTer?) n.410dup c.516dup (p.Ala173CysfsTer?) | ClinVar dbSNP |
| 20 | g.63444764A= | CA3237914264 | KCNQ2 | c.585T= (p.Ser195=) n.323T= c.66T= (p.Ser22=) c.243T= (p.Ser81=) n.711T= n.427T= c.6T= (p.Ser2=) n.410T= c.516T= (p.Ser172=) | dbSNP |