| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162097839C>T | CA362184434 | GABRG2 | c.491C>T c.529C>T (p.Arg177Ter) n.420C>T c.612C>T c.244C>T (p.Arg82Ter) n.591C>T c.406C>T c.23-6050C>T (n.23-6050C>T) c.457C>T (p.Arg153Ter) c.107+29733C>T (n.107+29733C>T) n.489C>T c.463C>T (p.Arg155Ter) c.70-6050C>T c.442C>T (p.Arg148Ter) c.*131C>T (n.*131C>T) c.650C>T (n.650C>T) c.520C>T (p.Arg174Ter) c.109C>T (p.Arg37Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.162097839C>G | CA126272 | GABRG2 | c.491C>G c.529C>G (p.Arg177Gly) n.420C>G c.612C>G c.244C>G (p.Arg82Gly) n.591C>G c.406C>G c.23-6050C>G (n.23-6050C>G) c.457C>G (p.Arg153Gly) c.107+29733C>G (n.107+29733C>G) n.489C>G c.463C>G (p.Arg155Gly) c.70-6050C>G c.442C>G (p.Arg148Gly) c.*131C>G (n.*131C>G) c.650C>G (n.650C>G) c.520C>G (p.Arg174Gly) c.109C>G (p.Arg37Gly) | ClinVar dbSNP |