| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165992113G>T | CA317581 | SCN1A | c.*3198C>A (n.*3198C>A) c.5162C>A (p.Thr1721Lys) c.5129C>A (p.Thr1710Lys) c.*1995C>A (n.*1995C>A) c.*2655C>A (n.*2655C>A) c.2024C>A c.5126C>A (p.Thr1709Lys) c.4880C>A (p.Thr1627Lys) c.*4716C>A (n.*4716C>A) c.*3105C>A (n.*3105C>A) n.7635C>A c.5078C>A (p.Thr1693Lys) n.176-23500G>T c.5159C>A (p.Thr1720Lys) c.5075C>A (p.Thr1692Lys) c.2720C>A (p.Thr907Lys) n.5598C>A n.5612C>A n.5584C>A n.5579C>A | ClinVar dbSNP |
| 2 | g.165992113G>C | CA285009 | SCN1A | c.*3198C>G (n.*3198C>G) c.5162C>G (p.Thr1721Arg) c.5129C>G (p.Thr1710Arg) c.*1995C>G (n.*1995C>G) c.*2655C>G (n.*2655C>G) c.2024C>G c.5126C>G (p.Thr1709Arg) c.4880C>G (p.Thr1627Arg) c.*4716C>G (n.*4716C>G) c.*3105C>G (n.*3105C>G) n.7635C>G c.5078C>G (p.Thr1693Arg) n.176-23500G>C c.5159C>G (p.Thr1720Arg) c.5075C>G (p.Thr1692Arg) c.2720C>G (p.Thr907Arg) n.5598C>G n.5612C>G n.5584C>G n.5579C>G | ClinVar dbSNP |