| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1798784A>C | CA1109653613 | CLN8 | c.496+27187A>C c.543+27187A>C (n.543+27187A>C) c.343+27187A>C c.544-1890A>C (n.544-1890A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1798784A>G | CA12873231 | CLN8 | c.496+27187A>G c.543+27187A>G (n.543+27187A>G) c.343+27187A>G c.544-1890A>G (n.544-1890A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1798784A>T | CA1109653615 | CLN8 | c.496+27187A>T c.543+27187A>T (n.543+27187A>T) c.343+27187A>T c.544-1890A>T (n.544-1890A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.1798784A= | CA1757684022 | CLN8 | c.496+27187A= c.543+27187A= (n.543+27187A=) c.343+27187A= c.544-1890A= (n.544-1890A=) | dbSNP |