| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1780472C>T | CA369954282 | CLN8 | c.766C>T (p.Gln256Ter) c.*177C>T (n.*177C>T) c.496+8875C>T c.543+8875C>T (n.543+8875C>T) c.343+8875C>T n.285C>T n.541C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1780472C>G | CA264191 | CLN8 | c.766C>G (p.Gln256Glu) c.*177C>G (n.*177C>G) c.496+8875C>G c.543+8875C>G (n.543+8875C>G) c.343+8875C>G n.285C>G n.541C>G | ClinVar dbSNP gnomAD v4 |