| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2496587G>A | CA7844000 | TBC1D24 | c.439G>A (p.Asp147Asn) n.621G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2496587G>C | CA339785 | TBC1D24 | c.439G>C (p.Asp147His) n.621G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2496587G= | CA2202259882 | TBC1D24 | c.439G= (p.Asp147=) n.621G= | dbSNP |