| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.32657766C>T | CA16609237 | SYNJ1 | c.2528G>A (p.Trp843Ter) c.2396G>A (p.Trp799Ter) c.2411G>A (p.Trp804Ter) n.198G>A c.2513G>A (p.Trp838Ter) | ClinVar dbSNP |
| 21 | g.32657766C>G | CA410075266 | SYNJ1 | c.2528G>C (p.Trp843Ser) c.2396G>C (p.Trp799Ser) c.2411G>C (p.Trp804Ser) n.198G>C c.2513G>C (p.Trp838Ser) | dbSNP gnomAD v4 |
| 21 | g.32657766C= | CA2386325478 | SYNJ1 | c.2528G= (p.Trp843=) c.2396G= (p.Trp799=) c.2411G= (p.Trp804=) n.198G= c.2513G= (p.Trp838=) | dbSNP |