| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162149168A>T | CA126265 | GABRG2 | c.984A>T c.1103A>T (p.Lys368Met) c.1066A>T n.237A>T c.698A>T (p.Lys233Met) c.983A>T (p.Lys328Met) c.860A>T c.374A>T (p.Lys125Met) c.911A>T (p.Lys304Met) c.*183A>T (n.*183A>T) c.917A>T (p.Lys306Met) n.281A>T n.3514A>T c.421A>T c.896A>T (p.Lys299Met) c.*585A>T (n.*585A>T) c.1104A>T (n.1104A>T) c.974A>T (p.Lys325Met) c.923-2562A>T (n.923-2562A>T) c.980A>T (p.Lys327Met) c.1022A>T (p.Lys341Met) c.563A>T (p.Lys188Met) | ClinVar dbSNP |
| 5 | g.162149168A= | CA1596380250 | GABRG2 | c.984A= c.1103A= (p.Lys368=) c.1066A= n.237A= c.698A= (p.Lys233=) c.983A= (p.Lys328=) c.860A= c.374A= (p.Lys125=) c.911A= (p.Lys304=) c.*183A= (n.*183A=) c.917A= (p.Lys306=) n.281A= n.3514A= c.421A= c.896A= (p.Lys299=) c.*585A= (n.*585A=) c.1104A= (n.1104A=) c.974A= (p.Lys325=) c.923-2562A= (n.923-2562A=) c.980A= (p.Lys327=) c.1022A= (p.Lys341=) c.563A= (p.Lys188=) | dbSNP |