| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771263G>C | CA369953092 | CLN8 | c.209G>C (p.Arg70Pro) c.162G>C c.9G>C | ClinVar dbSNP |
| 8 | g.1771263G>A | CA264159 | CLN8 | c.209G>A (p.Arg70His) c.162G>A c.9G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771263G= | CA1757666982 | CLN8 | c.209G= (p.Arg70=) c.162G= c.9G= | dbSNP |
| 8 | g.1771263G>T | CA369953093 | CLN8 | c.209G>T (p.Arg70Leu) c.162G>T c.9G>T | ClinVar dbSNP gnomAD v4 |