| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.26580351C>T | CA126256 | GABRB3 | c.650G>A (p.Arg217His) n.693G>A c.333G>A c.395G>A (p.Arg132His) c.551G>A (p.Arg184His) c.437G>A (p.Arg146His) c.818G>A (p.Arg273His) c.*111G>A (n.*111G>A) n.562G>A c.*482G>A (n.*482G>A) n.321G>A c.473G>A (p.Arg158His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.26580351C= | CA2165760508 | GABRB3 | c.650G= (p.Arg217=) n.693G= c.333G= c.395G= (p.Arg132=) c.551G= (p.Arg184=) c.437G= (p.Arg146=) c.818G= (p.Arg273=) c.*111G= (n.*111G=) n.562G= c.*482G= (n.*482G=) n.321G= c.473G= (p.Arg158=) | dbSNP |