| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87939965del | CA16041691 | GALC | c.1851del (p.Tyr617Ter) c.1782del (p.Tyr594Ter) c.1773del (p.Tyr591Ter) c.1683del (p.Tyr561Ter) c.1218del (p.Tyr406Ter) c.387del | ClinVar dbSNP gnomAD v4 |
| 14 | g.87939965A= | CA3206973014 | GALC | c.1851T= (p.Tyr617=) c.1782T= (p.Tyr594=) c.1773T= (p.Tyr591=) c.1683T= (p.Tyr561=) c.1218T= (p.Tyr406=) c.387T= | dbSNP |