| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.135765649C>T | CA16618794 | KCNT1 | c.1226C>T (p.Pro409Leu) c.1067C>T (p.Pro356Leu) c.974C>T (p.Pro325Leu) c.983C>T (p.Pro328Leu) c.1127C>T (p.Pro376Leu) c.*836C>T (n.*836C>T) c.1109C>T (p.Pro370Leu) c.1169C>T (p.Pro390Leu) n.1045C>T c.1091C>T (p.Pro364Leu) c.1361C>T (p.Pro454Leu) c.1370C>T (p.Pro457Leu) c.716C>T (p.Pro239Leu) c.1160C>T (p.Pro387Leu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.135765649C= | CA1883866671 | KCNT1 | c.1226C= (p.Pro409=) c.1067C= (p.Pro356=) c.974C= (p.Pro325=) c.983C= (p.Pro328=) c.1127C= (p.Pro376=) c.*836C= (n.*836C=) c.1109C= (p.Pro370=) c.1169C= (p.Pro390=) n.1045C= c.1091C= (p.Pro364=) c.1361C= (p.Pro454=) c.1370C= (p.Pro457=) c.716C= (p.Pro239=) c.1160C= (p.Pro387=) | dbSNP |