| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.47406692A>G | CA2907705 | GABRB1 | c.846A>G (p.Thr282=) c.825A>G (p.Thr275=) c.195A>G (p.Thr65=) c.747A>G (p.Thr249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47406692A>C | CA439245684 | GABRB1 | c.846A>C (p.Thr282=) c.825A>C (p.Thr275=) c.195A>C (p.Thr65=) c.747A>C (p.Thr249=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.47406692A>T | CA2907706 | GABRB1 | c.846A>T (p.Thr282=) c.825A>T (p.Thr275=) c.195A>T (p.Thr65=) c.747A>T (p.Thr249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |