| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165998102G>T | CA16617288 | SCN1A | c.*2448C>A (n.*2448C>A) c.4412C>A (p.Ser1471Tyr) c.4379C>A (p.Ser1460Tyr) c.*1905C>A (n.*1905C>A) c.1274C>A c.4376C>A (p.Ser1459Tyr) c.4130C>A (p.Ser1377Tyr) c.*3966C>A (n.*3966C>A) c.*2355C>A (n.*2355C>A) n.6885C>A c.4328C>A (p.Ser1443Tyr) n.415C>A n.176-17511G>T c.4409C>A (p.Ser1470Tyr) c.4325C>A (p.Ser1442Tyr) c.1970C>A (p.Ser657Tyr) n.4848C>A n.4862C>A n.4834C>A n.4829C>A | ClinVar dbSNP |
| 2 | g.165998102G>A | CA303462 | SCN1A | c.*2448C>T (n.*2448C>T) c.4412C>T (p.Ser1471Phe) c.4379C>T (p.Ser1460Phe) c.*1905C>T (n.*1905C>T) c.1274C>T c.4376C>T (p.Ser1459Phe) c.4130C>T (p.Ser1377Phe) c.*3966C>T (n.*3966C>T) c.*2355C>T (n.*2355C>T) n.6885C>T c.4328C>T (p.Ser1443Phe) n.415C>T n.176-17511G>A c.4409C>T (p.Ser1470Phe) c.4325C>T (p.Ser1442Phe) c.1970C>T (p.Ser657Phe) n.4848C>T n.4862C>T n.4834C>T n.4829C>T | ClinVar dbSNP |