| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87939926A>G | CA487355295 | GALC | c.1890T>C (p.Tyr630=) c.1821T>C (p.Tyr607=) c.1812T>C (p.Tyr604=) c.1722T>C (p.Tyr574=) c.1257T>C (p.Tyr419=) c.426T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.87939926A>T | CA16041690 | GALC | c.1890T>A (p.Tyr630Ter) c.1821T>A (p.Tyr607Ter) c.1812T>A (p.Tyr604Ter) c.1722T>A (p.Tyr574Ter) c.1257T>A (p.Tyr419Ter) c.426T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |