| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2496681C>G | CA394376435 | TBC1D24 | c.533C>G (p.Ser178Trp) n.715C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2496681C>T | CA156356 | TBC1D24 | c.533C>T (p.Ser178Leu) n.715C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2496681C= | CA2202259937 | TBC1D24 | c.533C= (p.Ser178=) n.715C= | dbSNP |