| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771598G>A | CA369953788 | CLN8 | c.543+1G>A (n.543+1G>A) c.496+1G>A c.343+1G>A | ClinVar dbSNP COSMIC COSMIC |
| 8 | g.1771598G>T | CA4599282 | CLN8 | c.543+1G>T (n.543+1G>T) c.496+1G>T c.343+1G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771598G= | CA1757667609 | CLN8 | c.543+1G= (n.543+1G=) c.496+1G= c.343+1G= | dbSNP |