| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135758495C>T | CA375498292 | KCNT1 | c.841C>T (p.Leu281Phe) c.682C>T (p.Leu228Phe) c.589C>T (p.Leu197Phe) c.742C>T (p.Leu248Phe) c.*451C>T (n.*451C>T) c.724C>T (p.Leu242Phe) c.784C>T (p.Leu262Phe) n.660C>T c.697C>T (p.Leu233Phe) c.976C>T (p.Leu326Phe) c.322C>T (p.Leu108Phe) c.766C>T (p.Leu256Phe) | ClinVar dbSNP |
| 9 | g.135758495C>A | CA16605720 | KCNT1 | c.841C>A (p.Leu281Ile) c.682C>A (p.Leu228Ile) c.589C>A (p.Leu197Ile) c.742C>A (p.Leu248Ile) c.*451C>A (n.*451C>A) c.724C>A (p.Leu242Ile) c.784C>A (p.Leu262Ile) n.660C>A c.697C>A (p.Leu233Ile) c.976C>A (p.Leu326Ile) c.322C>A (p.Leu108Ile) c.766C>A (p.Leu256Ile) | ClinVar dbSNP |
| 9 | g.135758495C= | CA1883862714 | KCNT1 | c.841C= (p.Leu281=) c.682C= (p.Leu228=) c.589C= (p.Leu197=) c.742C= (p.Leu248=) c.*451C= (n.*451C=) c.724C= (p.Leu242=) c.784C= (p.Leu262=) n.660C= c.697C= (p.Leu233=) c.976C= (p.Leu326=) c.322C= (p.Leu108=) c.766C= (p.Leu256=) | dbSNP |