| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63442410C>T | CA409653337 | KCNQ2 | c.812G>A (p.Gly271Asp) n.550G>A c.293G>A (p.Gly98Asp) c.470G>A (p.Gly157Asp) n.938G>A c.177G>A c.233G>A (p.Gly78Asp) n.637G>A c.690+2249G>A (n.690+2249G>A) c.743G>A (p.Gly248Asp) | ClinVar dbSNP |
| 20 | g.63442410C>A | CA342534 | KCNQ2 | c.812G>T (p.Gly271Val) n.550G>T c.293G>T (p.Gly98Val) c.470G>T (p.Gly157Val) n.938G>T c.177G>T c.233G>T (p.Gly78Val) n.637G>T c.690+2249G>T (n.690+2249G>T) c.743G>T (p.Gly248Val) | ClinVar dbSNP |