| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135775346C>T | CA5327247 | KCNT1 | c.2280C>T (p.Ile760=) c.2121C>T (p.Ile707=) c.2028C>T (p.Ile676=) c.2037C>T (p.Ile679=) c.2181C>T (p.Ile727=) c.*1890C>T (n.*1890C>T) c.2163C>T (p.Ile721=) c.2223C>T (p.Ile741=) c.2217C>T (p.Ile739=) n.2099C>T c.2145C>T (p.Ile715=) c.2115C>T (p.Ile705=) c.129C>T (p.Ile43=) c.2415C>T (p.Ile805=) c.2424C>T (p.Ile808=) c.1770C>T (p.Ile590=) c.2214C>T (p.Ile738=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135775346C>G | CA130395 | KCNT1 | c.2280C>G (p.Ile760Met) c.2121C>G (p.Ile707Met) c.2028C>G (p.Ile676Met) c.2037C>G (p.Ile679Met) c.2181C>G (p.Ile727Met) c.*1890C>G (n.*1890C>G) c.2163C>G (p.Ile721Met) c.2223C>G (p.Ile741Met) c.2217C>G (p.Ile739Met) n.2099C>G c.2145C>G (p.Ile715Met) c.2115C>G (p.Ile705Met) c.129C>G (p.Ile43Met) c.2415C>G (p.Ile805Met) c.2424C>G (p.Ile808Met) c.1770C>G (p.Ile590Met) c.2214C>G (p.Ile738Met) | ClinVar dbSNP |
| 9 | g.135775346C>A | CA5327248 | KCNT1 | c.2280C>A (p.Ile760=) c.2121C>A (p.Ile707=) c.2028C>A (p.Ile676=) c.2037C>A (p.Ile679=) c.2181C>A (p.Ile727=) c.*1890C>A (n.*1890C>A) c.2163C>A (p.Ile721=) c.2223C>A (p.Ile741=) c.2217C>A (p.Ile739=) n.2099C>A c.2145C>A (p.Ile715=) c.2115C>A (p.Ile705=) c.129C>A (p.Ile43=) c.2415C>A (p.Ile805=) c.2424C>A (p.Ile808=) c.1770C>A (p.Ile590=) c.2214C>A (p.Ile738=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |