| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.26567671G>T | CA10586389 | GABRB3 | c.745C>A (p.Gln249Lys) n.788C>A c.428C>A c.490C>A (p.Gln164Lys) c.646C>A (p.Gln216Lys) n.94C>A c.532C>A (p.Gln178Lys) c.913C>A (p.Gln305Lys) c.*206C>A (n.*206C>A) n.657C>A c.*577C>A (n.*577C>A) n.416C>A c.568C>A (p.Gln190Lys) | ClinVar dbSNP |
| 15 | g.26567671G= | CA2165753926 | GABRB3 | c.745C= (p.Gln249=) n.788C= c.428C= c.490C= (p.Gln164=) c.646C= (p.Gln216=) n.94C= c.532C= (p.Gln178=) c.913C= (p.Gln305=) c.*206C= (n.*206C=) n.657C= c.*577C= (n.*577C=) n.416C= c.568C= (p.Gln190=) | dbSNP |