| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.26567655G>A | CA16044328 | GABRB3 | c.761C>T (p.Ser254Phe) n.804C>T c.444C>T c.506C>T (p.Ser169Phe) c.662C>T (p.Ser221Phe) c.548C>T (p.Ser183Phe) c.929C>T (p.Ser310Phe) c.*222C>T (n.*222C>T) n.673C>T c.*593C>T (n.*593C>T) n.432C>T c.584C>T (p.Ser195Phe) | ClinVar dbSNP |
| 15 | g.26567655G>T | CA391463224 | GABRB3 | c.761C>A (p.Ser254Tyr) n.804C>A c.444C>A c.506C>A (p.Ser169Tyr) c.662C>A (p.Ser221Tyr) c.548C>A (p.Ser183Tyr) c.929C>A (p.Ser310Tyr) c.*222C>A (n.*222C>A) n.673C>A c.*593C>A (n.*593C>A) n.432C>A c.584C>A (p.Ser195Tyr) | ClinVar dbSNP |