| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.32657036T>C | CA16609236 | SYNJ1 | c.2663A>G (p.Tyr888Cys) c.2531A>G (p.Tyr844Cys) c.2546A>G (p.Tyr849Cys) n.333A>G c.2648A>G (p.Tyr883Cys) | ClinVar dbSNP gnomAD v4 |
| 21 | g.32657036T= | CA2386325204 | SYNJ1 | c.2663A= (p.Tyr888=) c.2531A= (p.Tyr844=) c.2546A= (p.Tyr849=) n.333A= c.2648A= (p.Tyr883=) | dbSNP |