| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.26567658G>A | CA16619911 | GABRB3 | c.758C>T (p.Pro253Leu) n.801C>T c.441C>T c.503C>T (p.Pro168Leu) c.659C>T (p.Pro220Leu) c.545C>T (p.Pro182Leu) c.926C>T (p.Pro309Leu) c.*219C>T (n.*219C>T) n.670C>T c.*590C>T (n.*590C>T) n.429C>T c.581C>T (p.Pro194Leu) | ClinVar dbSNP |
| 15 | g.26567658G>T | CA391463228 | GABRB3 | c.758C>A (p.Pro253His) n.801C>A c.441C>A c.503C>A (p.Pro168His) c.659C>A (p.Pro220His) c.545C>A (p.Pro182His) c.926C>A (p.Pro309His) c.*219C>A (n.*219C>A) n.670C>A c.*590C>A (n.*590C>A) n.429C>A c.581C>A (p.Pro194His) | ClinVar dbSNP |
| 15 | g.26567658G= | CA2165753904 | GABRB3 | c.758C= (p.Pro253=) n.801C= c.441C= c.503C= (p.Pro168=) c.659C= (p.Pro220=) c.545C= (p.Pro182=) c.926C= (p.Pro309=) c.*219C= (n.*219C=) n.670C= c.*590C= (n.*590C=) n.429C= c.581C= (p.Pro194=) | dbSNP |