| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.26580456T>A | CA10586388 | GABRB3 | c.545A>T (p.Tyr182Phe) n.588A>T c.228A>T c.290A>T (p.Tyr97Phe) c.446A>T (p.Tyr149Phe) c.332A>T (p.Tyr111Phe) c.713A>T (p.Tyr238Phe) c.*6A>T (n.*6A>T) n.457A>T c.*377A>T (n.*377A>T) n.216A>T c.368A>T (p.Tyr123Phe) | ClinVar dbSNP |
| 15 | g.26580456T>C | CA391464259 | GABRB3 | c.545A>G (p.Tyr182Cys) n.588A>G c.228A>G c.290A>G (p.Tyr97Cys) c.446A>G (p.Tyr149Cys) c.332A>G (p.Tyr111Cys) c.713A>G (p.Tyr238Cys) c.*6A>G (n.*6A>G) n.457A>G c.*377A>G (n.*377A>G) n.216A>G c.368A>G (p.Tyr123Cys) | ClinVar dbSNP |
| 15 | g.26580456T= | CA2165760550 | GABRB3 | c.545A= (p.Tyr182=) n.588A= c.228A= c.290A= (p.Tyr97=) c.446A= (p.Tyr149=) c.332A= (p.Tyr111=) c.713A= (p.Tyr238=) c.*6A= (n.*6A=) n.457A= c.*377A= (n.*377A=) n.216A= c.368A= (p.Tyr123=) | dbSNP |