| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161331058T>C | CA16618148 | GABRB2 | c.902A>G (p.Tyr301Cys) n.984A>G c.*361A>G (n.*361A>G) c.650A>G (p.Tyr217Cys) c.152A>G (p.Tyr51Cys) c.422A>G (p.Tyr141Cys) c.713A>G (p.Tyr238Cys) | ClinVar dbSNP |
| 5 | g.161331058T>A | CA362175379 | GABRB2 | c.902A>T (p.Tyr301Phe) n.984A>T c.*361A>T (n.*361A>T) c.650A>T (p.Tyr217Phe) c.152A>T (p.Tyr51Phe) c.422A>T (p.Tyr141Phe) c.713A>T (p.Tyr238Phe) | ClinVar dbSNP |