| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2496828G>A | CA7844045 | TBC1D24 | c.680G>A (p.Arg227Gln) n.862G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2496828G>T | CA319035 | TBC1D24 | c.680G>T (p.Arg227Leu) n.862G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2496828G= | CA2202260005 | TBC1D24 | c.680G= (p.Arg227=) n.862G= | dbSNP |