| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771527A>G | CA264172 | CLN8 | c.473A>G (p.Tyr158Cys) c.426A>G c.273A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771527A>C | CA369953637 | CLN8 | c.473A>C (p.Tyr158Ser) c.426A>C c.273A>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.1771527A= | CA1757667490 | CLN8 | c.473A= (p.Tyr158=) c.426A= c.273A= | dbSNP |