| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135770972A>G | CA16606397 | KCNT1 | c.1885A>G (p.Lys629Glu) c.1726A>G (p.Lys576Glu) c.1633A>G (p.Lys545Glu) c.1642A>G (p.Lys548Glu) c.1786A>G (p.Lys596Glu) c.*1495A>G (n.*1495A>G) c.1768A>G (p.Lys590Glu) c.1828A>G (p.Lys610Glu) n.1704A>G c.1750A>G (p.Lys584Glu) c.2020A>G (p.Lys674Glu) c.2029A>G (p.Lys677Glu) c.1375A>G (p.Lys459Glu) c.1819A>G (p.Lys607Glu) | ClinVar dbSNP |
| 9 | g.135770972A>C | CA375508426 | KCNT1 | c.1885A>C (p.Lys629Gln) c.1726A>C (p.Lys576Gln) c.1633A>C (p.Lys545Gln) c.1642A>C (p.Lys548Gln) c.1786A>C (p.Lys596Gln) c.*1495A>C (n.*1495A>C) c.1768A>C (p.Lys590Gln) c.1828A>C (p.Lys610Gln) n.1704A>C c.1750A>C (p.Lys584Gln) c.2020A>C (p.Lys674Gln) c.2029A>C (p.Lys677Gln) c.1375A>C (p.Lys459Gln) c.1819A>C (p.Lys607Gln) | ClinVar dbSNP |
| 9 | g.135770972A>T | CA375508429 | KCNT1 | c.1885A>T (p.Lys629Ter) c.1726A>T (p.Lys576Ter) c.1633A>T (p.Lys545Ter) c.1642A>T (p.Lys548Ter) c.1786A>T (p.Lys596Ter) c.*1495A>T (n.*1495A>T) c.1768A>T (p.Lys590Ter) c.1828A>T (p.Lys610Ter) n.1704A>T c.1750A>T (p.Lys584Ter) c.2020A>T (p.Lys674Ter) c.2029A>T (p.Lys677Ter) c.1375A>T (p.Lys459Ter) c.1819A>T (p.Lys607Ter) | dbSNP |