| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.1771100C>T | CA459142835 | CLN8 | c.46C>T (p.Leu16=) | ClinVar dbSNP |
| 8 | g.1771100C>A | CA264170 | CLN8 | c.46C>A (p.Leu16Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1771100C>G | CA369952773 | CLN8 | c.46C>G (p.Leu16Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1771100C= | CA1757666576 | CLN8 | c.46C= (p.Leu16=) | dbSNP |