| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135765061C>G | CA5326763 | KCNT1 | c.1066C>G (p.Arg356Gly) c.907C>G (p.Arg303Gly) c.814C>G (p.Arg272Gly) c.823C>G (p.Arg275Gly) c.967C>G (p.Arg323Gly) c.*676C>G (n.*676C>G) c.949C>G (p.Arg317Gly) c.1009C>G (p.Arg337Gly) n.885C>G c.931C>G (p.Arg311Gly) c.1201C>G (p.Arg401Gly) c.1210C>G (p.Arg404Gly) c.556C>G (p.Arg186Gly) c.1000C>G (p.Arg334Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135765061C>A | CA467697991 | KCNT1 | c.1066C>A (p.Arg356=) c.907C>A (p.Arg303=) c.814C>A (p.Arg272=) c.823C>A (p.Arg275=) c.967C>A (p.Arg323=) c.*676C>A (n.*676C>A) c.949C>A (p.Arg317=) c.1009C>A (p.Arg337=) n.885C>A c.931C>A (p.Arg311=) c.1201C>A (p.Arg401=) c.1210C>A (p.Arg404=) c.556C>A (p.Arg186=) c.1000C>A (p.Arg334=) | dbSNP gnomAD v2 |
| 9 | g.135765061C>T | CA16605732 | KCNT1 | c.1066C>T (p.Arg356Trp) c.907C>T (p.Arg303Trp) c.814C>T (p.Arg272Trp) c.823C>T (p.Arg275Trp) c.967C>T (p.Arg323Trp) c.*676C>T (n.*676C>T) c.949C>T (p.Arg317Trp) c.1009C>T (p.Arg337Trp) n.885C>T c.931C>T (p.Arg311Trp) c.1201C>T (p.Arg401Trp) c.1210C>T (p.Arg404Trp) c.556C>T (p.Arg186Trp) c.1000C>T (p.Arg334Trp) | ClinVar dbSNP gnomAD v4 |