| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135779411C>T | CA343800 | KCNT1 | c.2782C>T (p.Arg928Cys) c.2623C>T (p.Arg875Cys) c.2530C>T (p.Arg844Cys) n.1316C>T c.2539C>T (p.Arg847Cys) c.2683C>T (p.Arg895Cys) c.*2392C>T (n.*2392C>T) c.2665C>T (p.Arg889Cys) c.2725C>T (p.Arg909Cys) c.2719C>T (p.Arg907Cys) n.2601C>T c.2647C>T (p.Arg883Cys) c.2617C>T (p.Arg873Cys) c.648C>T (n.648C>T) c.2917C>T (p.Arg973Cys) c.2926C>T (p.Arg976Cys) c.2272C>T (p.Arg758Cys) c.2716C>T (p.Arg906Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.135779411C= | CA1883875175 | KCNT1 | c.2782C= (p.Arg928=) c.2623C= (p.Arg875=) c.2530C= (p.Arg844=) n.1316C= c.2539C= (p.Arg847=) c.2683C= (p.Arg895=) c.*2392C= (n.*2392C=) c.2665C= (p.Arg889=) c.2725C= (p.Arg909=) c.2719C= (p.Arg907=) n.2601C= c.2647C= (p.Arg883=) c.2617C= (p.Arg873=) c.648C= (n.648C=) c.2917C= (p.Arg973=) c.2926C= (p.Arg976=) c.2272C= (p.Arg758=) c.2716C= (p.Arg906=) | dbSNP |