| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771469C>T | CA264165 | CLN8 | c.415C>T (p.His139Tyr) c.368C>T c.215C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771469C>A | CA369953517 | CLN8 | c.415C>A (p.His139Asn) c.368C>A c.215C>A | dbSNP gnomAD v4 |
| 8 | g.1771469C= | CA1757667416 | CLN8 | c.415C= (p.His139=) c.368C= c.215C= | dbSNP |