| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771563C>G | CA369953713 | CLN8 | c.509C>G (p.Thr170Arg) c.462C>G c.309C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771563C>T | CA264177 | CLN8 | c.509C>T (p.Thr170Met) c.462C>T c.309C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771563C= | CA1757667555 | CLN8 | c.509C= (p.Thr170=) c.462C= c.309C= | dbSNP |