| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.75831153A>T | CA401081483 | UNC13D | c.1436T>A (p.Phe479Tyr) c.2570T>A (p.Phe857Tyr) c.2639T>A (p.Phe880Tyr) c.2636T>A (p.Phe879Tyr) c.2030T>A (p.Phe677Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.75831153A>C | CA252038 | UNC13D | c.1436T>G (p.Phe479Cys) c.2570T>G (p.Phe857Cys) c.2639T>G (p.Phe880Cys) c.2636T>G (p.Phe879Cys) c.2030T>G (p.Phe677Cys) | ClinVar dbSNP |