| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161854177C>T | CA211941 | GABRA1 | c.94C>T (p.Gln32Ter) n.869C>T c.156C>T (p.Tyr52=) c.139C>T (p.Gln47Ter) c.112C>T (p.Gln38Ter) c.157C>T (p.Gln53Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161854177C>A | CA3544342 | GABRA1 | c.94C>A (p.Gln32Lys) n.869C>A c.156C>A (p.Tyr52Ter) c.139C>A (p.Gln47Lys) c.112C>A (p.Gln38Lys) c.157C>A (p.Gln53Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |