| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2496267G>A | CA394374601 | TBC1D24 | c.119G>A (p.Arg40His) n.301G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2496267G>C | CA7843926 | TBC1D24 | c.119G>C (p.Arg40Pro) n.301G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2496267G>T | CA347136 | TBC1D24 | c.119G>T (p.Arg40Leu) n.301G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |