| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2496342G>T | CA10581511 | TBC1D24 | c.194G>T (p.Arg65Leu) n.376G>T | ClinVar dbSNP |
| 16 | g.2496342G>A | CA394374933 | TBC1D24 | c.194G>A (p.Arg65His) n.376G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2496342G= | CA2202259748 | TBC1D24 | c.194G= (p.Arg65=) n.376G= | dbSNP |