| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63442424A>T | CA16044334 | KCNQ2 | c.798T>A (p.Asp266Glu) n.536T>A c.279T>A (p.Asp93Glu) c.456T>A (p.Asp152Glu) n.924T>A c.163T>A c.219T>A (p.Asp73Glu) n.623T>A c.690+2235T>A (n.690+2235T>A) c.729T>A (p.Asp243Glu) | ClinVar dbSNP |
| 20 | g.63442424A= | CA2374793482 | KCNQ2 | c.798T= (p.Asp266=) n.536T= c.279T= (p.Asp93=) c.456T= (p.Asp152=) n.924T= c.163T= c.219T= (p.Asp73=) n.623T= c.690+2235T= (n.690+2235T=) c.729T= (p.Asp243=) | dbSNP |
| 20 | g.63442424A>G | CA511210225 | KCNQ2 | c.798T>C (p.Asp266=) n.536T>C c.279T>C (p.Asp93=) c.456T>C (p.Asp152=) n.924T>C c.163T>C c.219T>C (p.Asp73=) n.623T>C c.690+2235T>C (n.690+2235T>C) c.729T>C (p.Asp243=) | ClinVar dbSNP |