| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135765056T>G | CA16606388 | KCNT1 | c.1061T>G (p.Met354Arg) c.902T>G (p.Met301Arg) c.809T>G (p.Met270Arg) c.818T>G (p.Met273Arg) c.962T>G (p.Met321Arg) c.*671T>G (n.*671T>G) c.944T>G (p.Met315Arg) c.1004T>G (p.Met335Arg) n.880T>G c.926T>G (p.Met309Arg) c.1196T>G (p.Met399Arg) c.1205T>G (p.Met402Arg) c.551T>G (p.Met184Arg) c.995T>G (p.Met332Arg) | ClinVar dbSNP |
| 9 | g.135765056T= | CA1883866291 | KCNT1 | c.1061T= (p.Met354=) c.902T= (p.Met301=) c.809T= (p.Met270=) c.818T= (p.Met273=) c.962T= (p.Met321=) c.*671T= (n.*671T=) c.944T= (p.Met315=) c.1004T= (p.Met335=) n.880T= c.926T= (p.Met309=) c.1196T= (p.Met399=) c.1205T= (p.Met402=) c.551T= (p.Met184=) c.995T= (p.Met332=) | dbSNP |