| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135775344A>T | CA16618797 | KCNT1 | c.2278A>T (p.Ile760Phe) c.2119A>T (p.Ile707Phe) c.2026A>T (p.Ile676Phe) c.2035A>T (p.Ile679Phe) c.2179A>T (p.Ile727Phe) c.*1888A>T (n.*1888A>T) c.2161A>T (p.Ile721Phe) c.2221A>T (p.Ile741Phe) c.2215A>T (p.Ile739Phe) n.2097A>T c.2143A>T (p.Ile715Phe) c.2113A>T (p.Ile705Phe) c.127A>T (p.Ile43Phe) c.2413A>T (p.Ile805Phe) c.2422A>T (p.Ile808Phe) c.1768A>T (p.Ile590Phe) c.2212A>T (p.Ile738Phe) | ClinVar dbSNP |
| 9 | g.135775344A>G | CA375512220 | KCNT1 | c.2278A>G (p.Ile760Val) c.2119A>G (p.Ile707Val) c.2026A>G (p.Ile676Val) c.2035A>G (p.Ile679Val) c.2179A>G (p.Ile727Val) c.*1888A>G (n.*1888A>G) c.2161A>G (p.Ile721Val) c.2221A>G (p.Ile741Val) c.2215A>G (p.Ile739Val) n.2097A>G c.2143A>G (p.Ile715Val) c.2113A>G (p.Ile705Val) c.127A>G (p.Ile43Val) c.2413A>G (p.Ile805Val) c.2422A>G (p.Ile808Val) c.1768A>G (p.Ile590Val) c.2212A>G (p.Ile738Val) | dbSNP gnomAD v4 |
| 9 | g.135775344A= | CA1883884749 | KCNT1 | c.2278A= (p.Ile760=) c.2119A= (p.Ile707=) c.2026A= (p.Ile676=) c.2035A= (p.Ile679=) c.2179A= (p.Ile727=) c.*1888A= (n.*1888A=) c.2161A= (p.Ile721=) c.2221A= (p.Ile741=) c.2215A= (p.Ile739=) n.2097A= c.2143A= (p.Ile715=) c.2113A= (p.Ile705=) c.127A= (p.Ile43=) c.2413A= (p.Ile805=) c.2422A= (p.Ile808=) c.1768A= (p.Ile590=) c.2212A= (p.Ile738=) | dbSNP |