| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135770048C>A | CA375506041 | KCNT1 | c.1612C>A (p.Arg538Ser) c.1453C>A (p.Arg485Ser) c.1360C>A (p.Arg454Ser) c.1369C>A (p.Arg457Ser) c.1513C>A (p.Arg505Ser) c.*1222C>A (n.*1222C>A) c.1495C>A (p.Arg499Ser) c.1555C>A (p.Arg519Ser) n.1431C>A c.1477C>A (p.Arg493Ser) c.1747C>A (p.Arg583Ser) c.1756C>A (p.Arg586Ser) c.1102C>A (p.Arg368Ser) c.1546C>A (p.Arg516Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135770048C>T | CA5326971 | KCNT1 | c.1612C>T (p.Arg538Cys) c.1453C>T (p.Arg485Cys) c.1360C>T (p.Arg454Cys) c.1369C>T (p.Arg457Cys) c.1513C>T (p.Arg505Cys) c.*1222C>T (n.*1222C>T) c.1495C>T (p.Arg499Cys) c.1555C>T (p.Arg519Cys) n.1431C>T c.1477C>T (p.Arg493Cys) c.1747C>T (p.Arg583Cys) c.1756C>T (p.Arg586Cys) c.1102C>T (p.Arg368Cys) c.1546C>T (p.Arg516Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |