| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63442522T>G | CA10654820 | KCNQ2 | c.700A>C (p.Thr234Pro) n.438A>C c.181A>C (p.Thr61Pro) n.80A>C c.358A>C (p.Thr120Pro) n.826A>C c.65A>C c.121A>C (p.Thr41Pro) n.525A>C c.690+2137A>C (n.690+2137A>C) c.631A>C (p.Thr211Pro) | ClinVar dbSNP |
| 20 | g.63442522T>C | CA409654076 | KCNQ2 | c.700A>G (p.Thr234Ala) n.438A>G c.181A>G (p.Thr61Ala) n.80A>G c.358A>G (p.Thr120Ala) n.826A>G c.65A>G c.121A>G (p.Thr41Ala) n.525A>G c.690+2137A>G (n.690+2137A>G) c.631A>G (p.Thr211Ala) | ClinVar dbSNP |
| 20 | g.63442522T= | CA2374793542 | KCNQ2 | c.700A= (p.Thr234=) n.438A= c.181A= (p.Thr61=) n.80A= c.358A= (p.Thr120=) n.826A= c.65A= c.121A= (p.Thr41=) n.525A= c.690+2137A= (n.690+2137A=) c.631A= (p.Thr211=) | dbSNP |