| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771142G>A | CA4599195 | CLN8 | c.88G>A (p.Ala30Thr) c.41G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771142G>C | CA252420 | CLN8 | c.88G>C (p.Ala30Pro) c.41G>C | ClinVar dbSNP |
| 8 | g.1771142G>T | CA4599194 | CLN8 | c.88G>T (p.Ala30Ser) c.41G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |