| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101765042G>C | CA284841 | GNPTAB | c.1875C>G (p.Phe625Leu) c.1794C>G (p.Phe598Leu) c.1659C>G (p.Phe553Leu) c.648C>G (p.Phe216Leu) | ClinVar dbSNP |
| 12 | g.101765042G>T | CA6746514 | GNPTAB | c.1875C>A (p.Phe625Leu) c.1794C>A (p.Phe598Leu) c.1659C>A (p.Phe553Leu) c.648C>A (p.Phe216Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |