| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63442473A>G | CA409653915 | KCNQ2 | c.749T>C (p.Val250Ala) n.487T>C c.230T>C (p.Val77Ala) n.129T>C c.407T>C (p.Val136Ala) n.875T>C c.114T>C c.170T>C (p.Val57Ala) n.574T>C c.690+2186T>C (n.690+2186T>C) c.680T>C (p.Val227Ala) | ClinVar dbSNP |
| 20 | g.63442473A>C | CA342528 | KCNQ2 | c.749T>G (p.Val250Gly) n.487T>G c.230T>G (p.Val77Gly) n.129T>G c.407T>G (p.Val136Gly) n.875T>G c.114T>G c.170T>G (p.Val57Gly) n.574T>G c.690+2186T>G (n.690+2186T>G) c.680T>G (p.Val227Gly) | ClinVar dbSNP |