| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135768847C>T | CA10588471 | KCNT1 | c.1420C>T (p.Arg474Cys) c.158C>T c.1261C>T (p.Arg421Cys) c.1168C>T (p.Arg390Cys) c.1177C>T (p.Arg393Cys) c.1321C>T (p.Arg441Cys) c.*1030C>T (n.*1030C>T) c.1303C>T (p.Arg435Cys) c.1363C>T (p.Arg455Cys) n.1239C>T c.1285C>T (p.Arg429Cys) c.1555C>T (p.Arg519Cys) c.1564C>T (p.Arg522Cys) c.910C>T (p.Arg304Cys) c.1354C>T (p.Arg452Cys) | ClinVar dbSNP |
| 9 | g.135768847C>A | CA10603169 | KCNT1 | c.1420C>A (p.Arg474Ser) c.158C>A c.1261C>A (p.Arg421Ser) c.1168C>A (p.Arg390Ser) c.1177C>A (p.Arg393Ser) c.1321C>A (p.Arg441Ser) c.*1030C>A (n.*1030C>A) c.1303C>A (p.Arg435Ser) c.1363C>A (p.Arg455Ser) n.1239C>A c.1285C>A (p.Arg429Ser) c.1555C>A (p.Arg519Ser) c.1564C>A (p.Arg522Ser) c.910C>A (p.Arg304Ser) c.1354C>A (p.Arg452Ser) | ClinVar dbSNP |
| 9 | g.135768847C= | CA1883870045 | KCNT1 | c.1420C= (p.Arg474=) c.158C= c.1261C= (p.Arg421=) c.1168C= (p.Arg390=) c.1177C= (p.Arg393=) c.1321C= (p.Arg441=) c.*1030C= (n.*1030C=) c.1303C= (p.Arg435=) c.1363C= (p.Arg455=) n.1239C= c.1285C= (p.Arg429=) c.1555C= (p.Arg519=) c.1564C= (p.Arg522=) c.910C= (p.Arg304=) c.1354C= (p.Arg452=) | dbSNP |