| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771518C>A | CA16618619 | CLN8 | c.464C>A (p.Ala155Asp) c.417C>A c.264C>A | ClinVar dbSNP |
| 8 | g.1771518C>T | CA264167 | CLN8 | c.464C>T (p.Ala155Val) c.417C>T c.264C>T | ClinVar dbSNP |
| 8 | g.1771518C>G | CA369953621 | CLN8 | c.464C>G (p.Ala155Gly) c.417C>G c.264C>G | dbSNP gnomAD v4 |
| 8 | g.1771518C= | CA1757667473 | CLN8 | c.464C= (p.Ala155=) c.417C= c.264C= | dbSNP |