| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135768853T>C | CA10588472 | KCNT1 | c.1426T>C (p.Trp476Arg) c.1267T>C (p.Trp423Arg) c.1174T>C (p.Trp392Arg) c.1183T>C (p.Trp395Arg) c.1327T>C (p.Trp443Arg) c.*1036T>C (n.*1036T>C) c.1309T>C (p.Trp437Arg) c.1369T>C (p.Trp457Arg) n.1245T>C c.1291T>C (p.Trp431Arg) c.1561T>C (p.Trp521Arg) c.1570T>C (p.Trp524Arg) c.916T>C (p.Trp306Arg) c.1360T>C (p.Trp454Arg) | ClinVar dbSNP |
| 9 | g.135768853T= | CA1883870075 | KCNT1 | c.1426T= (p.Trp476=) c.1267T= (p.Trp423=) c.1174T= (p.Trp392=) c.1183T= (p.Trp395=) c.1327T= (p.Trp443=) c.*1036T= (n.*1036T=) c.1309T= (p.Trp437=) c.1369T= (p.Trp457=) n.1245T= c.1291T= (p.Trp431=) c.1561T= (p.Trp521=) c.1570T= (p.Trp524=) c.916T= (p.Trp306=) c.1360T= (p.Trp454=) | dbSNP |