| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135769982A>G | CA10603124 | KCNT1 | c.1546A>G (p.Met516Val) c.1387A>G (p.Met463Val) c.1294A>G (p.Met432Val) c.1303A>G (p.Met435Val) c.1447A>G (p.Met483Val) c.*1156A>G (n.*1156A>G) c.1429A>G (p.Met477Val) c.1489A>G (p.Met497Val) n.1365A>G c.1411A>G (p.Met471Val) c.1681A>G (p.Met561Val) c.1690A>G (p.Met564Val) c.1036A>G (p.Met346Val) c.1480A>G (p.Met494Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135769982A= | CA1883872461 | KCNT1 | c.1546A= (p.Met516=) c.1387A= (p.Met463=) c.1294A= (p.Met432=) c.1303A= (p.Met435=) c.1447A= (p.Met483=) c.*1156A= (n.*1156A=) c.1429A= (p.Met477=) c.1489A= (p.Met497=) n.1365A= c.1411A= (p.Met471=) c.1681A= (p.Met561=) c.1690A= (p.Met564=) c.1036A= (p.Met346=) c.1480A= (p.Met494=) | dbSNP |