| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63442446T>C | CA16043114 | KCNQ2 | c.776A>G (p.Asp259Gly) n.514A>G c.257A>G (p.Asp86Gly) n.156A>G c.434A>G (p.Asp145Gly) n.902A>G c.141A>G c.197A>G (p.Asp66Gly) n.601A>G c.690+2213A>G (n.690+2213A>G) c.707A>G (p.Asp236Gly) | ClinVar dbSNP |
| 20 | g.63442446T>A | CA409653457 | KCNQ2 | c.776A>T (p.Asp259Val) n.514A>T c.257A>T (p.Asp86Val) n.156A>T c.434A>T (p.Asp145Val) n.902A>T c.141A>T c.197A>T (p.Asp66Val) n.601A>T c.690+2213A>T (n.690+2213A>T) c.707A>T (p.Asp236Val) | dbSNP gnomAD v4 |
| 20 | g.63442446T= | CA2374793494 | KCNQ2 | c.776A= (p.Asp259=) n.514A= c.257A= (p.Asp86=) n.156A= c.434A= (p.Asp145=) n.902A= c.141A= c.197A= (p.Asp66=) n.601A= c.690+2213A= (n.690+2213A=) c.707A= (p.Asp236=) | dbSNP |