| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770185A>G | CA252415 | GNPTAB | c.1120T>C (p.Phe374Leu) c.1039T>C (p.Phe347Leu) c.904T>C (p.Phe302Leu) c.-108T>C (n.-108T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101770185A>T | CA386302882 | GNPTAB | c.1120T>A (p.Phe374Ile) c.1039T>A (p.Phe347Ile) c.904T>A (p.Phe302Ile) c.-108T>A (n.-108T>A) | dbSNP |
| 12 | g.101770185A= | CA2058957896 | GNPTAB | c.1120T= (p.Phe374=) c.1039T= (p.Phe347=) c.904T= (p.Phe302=) c.-108T= (n.-108T=) | dbSNP |