| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135759686G>A | CA151134 | KCNT1 | c.862G>A (p.Gly288Ser) c.703G>A (p.Gly235Ser) c.610G>A (p.Gly204Ser) c.619G>A (p.Gly207Ser) c.763G>A (p.Gly255Ser) c.*472G>A (n.*472G>A) c.745G>A (p.Gly249Ser) c.805G>A (p.Gly269Ser) n.681G>A c.727G>A (p.Gly243Ser) c.997G>A (p.Gly333Ser) c.1006G>A (p.Gly336Ser) c.352G>A (p.Gly118Ser) c.796G>A (p.Gly266Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135759686G>T | CA375498367 | KCNT1 | c.862G>T (p.Gly288Cys) c.703G>T (p.Gly235Cys) c.610G>T (p.Gly204Cys) c.619G>T (p.Gly207Cys) c.763G>T (p.Gly255Cys) c.*472G>T (n.*472G>T) c.745G>T (p.Gly249Cys) c.805G>T (p.Gly269Cys) n.681G>T c.727G>T (p.Gly243Cys) c.997G>T (p.Gly333Cys) c.1006G>T (p.Gly336Cys) c.352G>T (p.Gly118Cys) c.796G>T (p.Gly266Cys) | ClinVar dbSNP |
| 9 | g.135759686G= | CA1883863418 | KCNT1 | c.862G= (p.Gly288=) c.703G= (p.Gly235=) c.610G= (p.Gly204=) c.619G= (p.Gly207=) c.763G= (p.Gly255=) c.*472G= (n.*472G=) c.745G= (p.Gly249=) c.805G= (p.Gly269=) n.681G= c.727G= (p.Gly243=) c.997G= (p.Gly333=) c.1006G= (p.Gly336=) c.352G= (p.Gly118=) c.796G= (p.Gly266=) | dbSNP |