| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135768848G>A | CA130393 | KCNT1 | c.1421G>A (p.Arg474His) c.159G>A c.1262G>A (p.Arg421His) c.1169G>A (p.Arg390His) c.1178G>A (p.Arg393His) c.1322G>A (p.Arg441His) c.*1031G>A (n.*1031G>A) c.1304G>A (p.Arg435His) c.1364G>A (p.Arg455His) n.1240G>A c.1286G>A (p.Arg429His) c.1556G>A (p.Arg519His) c.1565G>A (p.Arg522His) c.911G>A (p.Arg304His) c.1355G>A (p.Arg452His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135768848G>T | CA375505174 | KCNT1 | c.1421G>T (p.Arg474Leu) c.159G>T c.1262G>T (p.Arg421Leu) c.1169G>T (p.Arg390Leu) c.1178G>T (p.Arg393Leu) c.1322G>T (p.Arg441Leu) c.*1031G>T (n.*1031G>T) c.1304G>T (p.Arg435Leu) c.1364G>T (p.Arg455Leu) n.1240G>T c.1286G>T (p.Arg429Leu) c.1556G>T (p.Arg519Leu) c.1565G>T (p.Arg522Leu) c.911G>T (p.Arg304Leu) c.1355G>T (p.Arg452Leu) | ClinVar dbSNP |
| 9 | g.135768848G= | CA1883870057 | KCNT1 | c.1421G= (p.Arg474=) c.159G= c.1262G= (p.Arg421=) c.1169G= (p.Arg390=) c.1178G= (p.Arg393=) c.1322G= (p.Arg441=) c.*1031G= (n.*1031G=) c.1304G= (p.Arg435=) c.1364G= (p.Arg455=) n.1240G= c.1286G= (p.Arg429=) c.1556G= (p.Arg519=) c.1565G= (p.Arg522=) c.911G= (p.Arg304=) c.1355G= (p.Arg452=) | dbSNP |