| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.25354414G>A | CA333343 | SNHG14,UBE3A | c.2233C>T (p.Gln745Ter) c.2293C>T (p.Gln765Ter) c.2302C>T (p.Gln768Ter) c.2116C>T (p.Gln706Ter) n.4989C>T c.244C>T (p.Gln82Ter) c.104C>T n.782C>T c.2137C>T (p.Gln713Ter) c.2077C>T (p.Gln693Ter) c.2068C>T (p.Gln690Ter) c.1042C>T (p.Gln348Ter) c.982C>T (p.Gln328Ter) n.18393-37182G>A n.2837C>T c.2146C>T (p.Gln716Ter) n.2805C>T | ClinVar dbSNP |
| 15 | g.25354414G= | CA2165201224 | SNHG14,UBE3A | c.2233C= (p.Gln745=) c.2293C= (p.Gln765=) c.2302C= (p.Gln768=) c.2116C= (p.Gln706=) n.4989C= c.244C= (p.Gln82=) c.104C= n.782C= c.2137C= (p.Gln713=) c.2077C= (p.Gln693=) c.2068C= (p.Gln690=) c.1042C= (p.Gln348=) c.982C= (p.Gln328=) n.18393-37182G= n.2837C= c.2146C= (p.Gln716=) n.2805C= | dbSNP |