| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.32681590C>T | CA410090187 | SYNJ1 | c.1376G>A (p.Arg459His) c.1259G>A (p.Arg420His) | ClinVar dbSNP gnomAD v4 |
| 21 | g.32681590C>G | CA16609345 | SYNJ1 | c.1376G>C (p.Arg459Pro) c.1259G>C (p.Arg420Pro) | ClinVar dbSNP |
| 21 | g.32681590C= | CA2386335350 | SYNJ1 | c.1376G= (p.Arg459=) c.1259G= (p.Arg420=) | dbSNP |