Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|

2 | g.166038098G>T | CA285072 | SCN1A | c.2624C>A (p.Thr875Lys) c.2540C>A (p.Thr847Lys) c.2591C>A (p.Thr864Lys) c.2621C>A (p.Thr874Lys) c.2588C>A (p.Thr863Lys) n.2808C>A c.2537C>A (p.Thr846Lys) c.182C>A (p.Thr61Lys) n.2996C>A n.3010C>A n.2982C>A n.2540C>A (p.Thr847Lys) | ClinVar dbSNP |

2 | g.166038098G>A | CA256587 | SCN1A | c.2624C>T (p.Thr875Met) c.2540C>T (p.Thr847Met) c.2591C>T (p.Thr864Met) c.2621C>T (p.Thr874Met) c.2588C>T (p.Thr863Met) n.2808C>T c.2537C>T (p.Thr846Met) c.182C>T (p.Thr61Met) n.2996C>T n.3010C>T n.2982C>T n.2540C>T (p.Thr847Met) | ClinVar dbSNP COSMIC COSMIC COSMIC |