| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1780287A>G | CA264180 | CLN8 | c.581A>G (p.Gln194Arg) c.643A>G (p.Ser215Gly) c.496+8690A>G c.543+8690A>G (n.543+8690A>G) c.343+8690A>G n.100A>G n.356A>G | ClinVar dbSNP gnomAD v4 |
| 8 | g.1780287A= | CA1757673115 | CLN8 | c.581A= (p.Gln194=) c.643A= (p.Ser215=) c.496+8690A= c.543+8690A= (n.543+8690A=) c.343+8690A= n.100A= n.356A= | dbSNP |