| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.89257779G>A | CA3920050 | GABRR2 | c.1289C>T (p.Thr430Met) n.1120C>T c.1157C>T (p.Thr386Met) c.992C>T (p.Thr331Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257779G>C | CA364954695 | GABRR2 | c.1289C>G (p.Thr430Arg) n.1120C>G c.1157C>G (p.Thr386Arg) c.992C>G (p.Thr331Arg) | dbSNP |