| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1780498C>G | CA267596 | CLN8 | c.792C>G (p.Asn264Lys) c.*203C>G (n.*203C>G) c.496+8901C>G c.543+8901C>G (n.543+8901C>G) c.343+8901C>G n.311C>G n.567C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1780498C>T | CA459143097 | CLN8 | c.792C>T (p.Asn264=) c.*203C>T (n.*203C>T) c.496+8901C>T c.543+8901C>T (n.543+8901C>T) c.343+8901C>T n.311C>T n.567C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1780498C= | CA1757673225 | CLN8 | c.792C= (p.Asn264=) c.*203C= (n.*203C=) c.496+8901C= c.543+8901C= (n.543+8901C=) c.343+8901C= n.311C= n.567C= | dbSNP |