| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1780495G>C | CA252416 | CLN8 | c.789G>C (p.Trp263Cys) c.*200G>C (n.*200G>C) c.496+8898G>C c.543+8898G>C (n.543+8898G>C) c.343+8898G>C n.308G>C n.564G>C | ClinVar dbSNP |
| 8 | g.1780495G= | CA1757673224 | CLN8 | c.789G= (p.Trp263=) c.*200G= (n.*200G=) c.496+8898G= c.543+8898G= (n.543+8898G=) c.343+8898G= n.308G= n.564G= | dbSNP |