| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161331097A>G | CA16618151 | GABRB2 | c.863T>C (p.Ile288Thr) n.945T>C c.*322T>C (n.*322T>C) c.611T>C (p.Ile204Thr) c.113T>C (p.Ile38Thr) c.383T>C (p.Ile128Thr) c.674T>C (p.Ile225Thr) | ClinVar dbSNP |
| 5 | g.161331097A= | CA1595983885 | GABRB2 | c.863T= (p.Ile288=) n.945T= c.*322T= (n.*322T=) c.611T= (p.Ile204=) c.113T= (p.Ile38=) c.383T= (p.Ile128=) c.674T= (p.Ile225=) | dbSNP |