| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135778822G>T | CA375515377 | KCNT1 | c.2729G>T (p.Arg910Leu) c.2570G>T (p.Arg857Leu) c.2477G>T (p.Arg826Leu) n.1263G>T c.2486G>T (p.Arg829Leu) c.2630G>T (p.Arg877Leu) c.*2339G>T (n.*2339G>T) c.2612G>T (p.Arg871Leu) c.2672G>T (p.Arg891Leu) c.2666G>T (p.Arg889Leu) n.2548G>T c.2594G>T (p.Arg865Leu) c.2564G>T (p.Arg855Leu) c.595G>T (n.595G>T) c.2864G>T (p.Arg955Leu) c.2873G>T (p.Arg958Leu) c.2219G>T (p.Arg740Leu) c.2663G>T (p.Arg888Leu) | ClinVar dbSNP |
| 9 | g.135778822G>A | CA354199 | KCNT1 | c.2729G>A (p.Arg910Gln) c.2570G>A (p.Arg857Gln) c.2477G>A (p.Arg826Gln) n.1263G>A c.2486G>A (p.Arg829Gln) c.2630G>A (p.Arg877Gln) c.*2339G>A (n.*2339G>A) c.2612G>A (p.Arg871Gln) c.2672G>A (p.Arg891Gln) c.2666G>A (p.Arg889Gln) n.2548G>A c.2594G>A (p.Arg865Gln) c.2564G>A (p.Arg855Gln) c.595G>A (n.595G>A) c.2864G>A (p.Arg955Gln) c.2873G>A (p.Arg958Gln) c.2219G>A (p.Arg740Gln) c.2663G>A (p.Arg888Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |