| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101786038A>T | CA356554 | GNPTAB | c.545T>A (p.Val182Asp) n.339T>A c.179T>A (p.Val60Asp) c.464T>A (p.Val155Asp) c.329T>A (p.Val110Asp) c.-806T>A (n.-806T>A) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101786038A= | CA2058964790 | GNPTAB | c.545T= (p.Val182=) n.339T= c.179T= (p.Val60=) c.464T= (p.Val155=) c.329T= (p.Val110=) c.-806T= (n.-806T=) | dbSNP |