| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135777374T>C | CA343802 | KCNT1 | c.2386T>C (p.Tyr796His) c.2227T>C (p.Tyr743His) c.2134T>C (p.Tyr712His) n.1001T>C c.2143T>C (p.Tyr715His) c.2287T>C (p.Tyr763His) c.*1996T>C (n.*1996T>C) c.2269T>C (p.Tyr757His) c.2329T>C (p.Tyr777His) c.2323T>C (p.Tyr775His) n.2205T>C c.2251T>C (p.Tyr751His) c.2221T>C (p.Tyr741His) c.235T>C (p.Tyr79His) c.2521T>C (p.Tyr841His) c.2530T>C (p.Tyr844His) c.1876T>C (p.Tyr626His) c.2320T>C (p.Tyr774His) | ClinVar dbSNP |
| 9 | g.135777374T= | CA1883888298 | KCNT1 | c.2386T= (p.Tyr796=) c.2227T= (p.Tyr743=) c.2134T= (p.Tyr712=) n.1001T= c.2143T= (p.Tyr715=) c.2287T= (p.Tyr763=) c.*1996T= (n.*1996T=) c.2269T= (p.Tyr757=) c.2329T= (p.Tyr777=) c.2323T= (p.Tyr775=) n.2205T= c.2251T= (p.Tyr751=) c.2221T= (p.Tyr741=) c.235T= (p.Tyr79=) c.2521T= (p.Tyr841=) c.2530T= (p.Tyr844=) c.1876T= (p.Tyr626=) c.2320T= (p.Tyr774=) | dbSNP |