| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63442531C>G | CA16620974 | KCNQ2 | c.691G>C (p.Glu231Gln) n.429G>C c.172G>C (p.Glu58Gln) n.71G>C c.349G>C (p.Glu117Gln) n.817G>C n.533G>C c.56G>C c.112G>C (p.Glu38Gln) n.516G>C c.690+2128G>C (n.690+2128G>C) c.622G>C (p.Glu208Gln) | ClinVar dbSNP |
| 20 | g.63442531C= | CA2374793546 | KCNQ2 | c.691G= (p.Glu231=) n.429G= c.172G= (p.Glu58=) n.71G= c.349G= (p.Glu117=) n.817G= n.533G= c.56G= c.112G= (p.Glu38=) n.516G= c.690+2128G= (n.690+2128G=) c.622G= (p.Glu208=) | dbSNP |
| 20 | g.63442531C>T | CA409654121 | KCNQ2 | c.691G>A (p.Glu231Lys) n.429G>A c.172G>A (p.Glu58Lys) n.71G>A c.349G>A (p.Glu117Lys) n.817G>A n.533G>A c.56G>A c.112G>A (p.Glu38Lys) n.516G>A c.690+2128G>A (n.690+2128G>A) c.622G>A (p.Glu208Lys) | ClinVar dbSNP |