| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.184937516C>A | CA2016088 | ZNF804A | c.2120C>A (p.Thr707Lys) c.1865C>A (p.Thr622Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.184937516C>T | CA349767783 | ZNF804A | c.2120C>T (p.Thr707Ile) c.1865C>T (p.Thr622Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.184937516C>G | CA349767779 | ZNF804A | c.2120C>G (p.Thr707Arg) c.1865C>G (p.Thr622Arg) | dbSNP |