| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770161T>G | CA239360 | GNPTAB | c.1144A>C (p.Thr382Pro) c.1063A>C (p.Thr355Pro) c.928A>C (p.Thr310Pro) c.-84A>C (n.-84A>C) | ClinVar dbSNP |
| 12 | g.101770161T>C | CA6746692 | GNPTAB | c.1144A>G (p.Thr382Ala) c.1063A>G (p.Thr355Ala) c.928A>G (p.Thr310Ala) c.-84A>G (n.-84A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101770161T= | CA2058957891 | GNPTAB | c.1144A= (p.Thr382=) c.1063A= (p.Thr355=) c.928A= (p.Thr310=) c.-84A= (n.-84A=) | dbSNP |