| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771281A>G | CA264161 | CLN8 | c.227A>G (p.Gln76Arg) c.180A>G c.27A>G | ClinVar dbSNP |
| 8 | g.1771281A= | CA1757667004 | CLN8 | c.227A= (p.Gln76=) c.180A= c.27A= | dbSNP |
| 8 | g.1771281A>C | CA369953127 | CLN8 | c.227A>C (p.Gln76Pro) c.180A>C c.27A>C | ClinVar dbSNP gnomAD v4 |