| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135784535T>G | CA375517777 | KCNT1 | c.2944T>G (p.Ser982Ala) c.2785T>G (p.Ser929Ala) c.2692T>G (p.Ser898Ala) c.2701T>G (p.Ser901Ala) c.2845T>G (p.Ser949Ala) c.*2554T>G (n.*2554T>G) c.2827T>G (p.Ser943Ala) c.2887T>G (p.Ser963Ala) c.2881T>G (p.Ser961Ala) n.2763T>G c.2809T>G (p.Ser937Ala) c.2779T>G (p.Ser927Ala) c.810T>G (n.810T>G) c.3079T>G (p.Ser1027Ala) c.3088T>G (p.Ser1030Ala) c.2434T>G (p.Ser812Ala) c.2878T>G (p.Ser960Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135784535T>C | CA16605458 | KCNT1 | c.2944T>C (p.Ser982Pro) c.2785T>C (p.Ser929Pro) c.2692T>C (p.Ser898Pro) c.2701T>C (p.Ser901Pro) c.2845T>C (p.Ser949Pro) c.*2554T>C (n.*2554T>C) c.2827T>C (p.Ser943Pro) c.2887T>C (p.Ser963Pro) c.2881T>C (p.Ser961Pro) n.2763T>C c.2809T>C (p.Ser937Pro) c.2779T>C (p.Ser927Pro) c.810T>C (n.810T>C) c.3079T>C (p.Ser1027Pro) c.3088T>C (p.Ser1030Pro) c.2434T>C (p.Ser812Pro) c.2878T>C (p.Ser960Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.135784535T= | CA1883883635 | KCNT1 | c.2944T= (p.Ser982=) c.2785T= (p.Ser929=) c.2692T= (p.Ser898=) c.2701T= (p.Ser901=) c.2845T= (p.Ser949=) c.*2554T= (n.*2554T=) c.2827T= (p.Ser943=) c.2887T= (p.Ser963=) c.2881T= (p.Ser961=) n.2763T= c.2809T= (p.Ser937=) c.2779T= (p.Ser927=) c.810T= (n.810T=) c.3079T= (p.Ser1027=) c.3088T= (p.Ser1030=) c.2434T= (p.Ser812=) c.2878T= (p.Ser960=) | dbSNP |