| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.76992067C>G | CA313858 | CLN5 | c.-32C>G (n.-32C>G) c.116C>G (p.Ser39Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.76992067C>T | CA7007093 | CLN5 | c.-32C>T (n.-32C>T) c.116C>T (p.Ser39Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.76992067C>A | CA313900 | CLN5 | c.-32C>A (n.-32C>A) c.116C>A (p.Ser39Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |