| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165992303T>A | CA349069931 | SCN1A | c.*3008A>T (n.*3008A>T) c.4972A>T (p.Thr1658Ser) c.4939A>T (p.Thr1647Ser) c.*1805A>T (n.*1805A>T) c.*2465A>T (n.*2465A>T) c.1834A>T c.4936A>T (p.Thr1646Ser) c.4690A>T (p.Thr1564Ser) c.*4526A>T (n.*4526A>T) c.*2915A>T (n.*2915A>T) n.7445A>T c.4888A>T (p.Thr1630Ser) n.176-23310T>A c.4969A>T (p.Thr1657Ser) c.4885A>T (p.Thr1629Ser) c.2530A>T (p.Thr844Ser) n.5408A>T n.5422A>T n.5394A>T n.5389A>T | ClinVar dbSNP |
| 2 | g.165992303T>G | CA16617285 | SCN1A | c.*3008A>C (n.*3008A>C) c.4972A>C (p.Thr1658Pro) c.4939A>C (p.Thr1647Pro) c.*1805A>C (n.*1805A>C) c.*2465A>C (n.*2465A>C) c.1834A>C c.4936A>C (p.Thr1646Pro) c.4690A>C (p.Thr1564Pro) c.*4526A>C (n.*4526A>C) c.*2915A>C (n.*2915A>C) n.7445A>C c.4888A>C (p.Thr1630Pro) n.176-23310T>G c.4969A>C (p.Thr1657Pro) c.4885A>C (p.Thr1629Pro) c.2530A>C (p.Thr844Pro) n.5408A>C n.5422A>C n.5394A>C n.5389A>C | ClinVar dbSNP |