| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2496340C>A | CA16620168 | TBC1D24 | c.192C>A (p.Cys64Ter) n.374C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.2496340C>T | CA10583389 | TBC1D24 | c.192C>T (p.Cys64=) n.374C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2496340C= | CA2202259746 | TBC1D24 | c.192C= (p.Cys64=) n.374C= | dbSNP |