| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771124C>G | CA340024 | CLN8 | c.70C>G (p.Arg24Gly) c.23C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771124C>T | CA4599187 | CLN8 | c.70C>T (p.Arg24Cys) c.23C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.1771124C= | CA1757666603 | CLN8 | c.70C= (p.Arg24=) c.23C= | dbSNP |