| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771553G>C | CA4599275 | CLN8 | c.499G>C (p.Glu167Gln) c.452G>C c.299G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1771553G>A | CA369953687 | CLN8 | c.499G>A (p.Glu167Lys) c.452G>A c.299G>A | ClinVar dbSNP |
| 8 | g.1771553G>T | CA314014 | CLN8 | c.499G>T (p.Glu167Ter) c.452G>T c.299G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |