| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87939979C>A | CA16041692 | GALC | c.1837G>T (p.Gly613Ter) c.1768G>T (p.Gly590Ter) c.1759G>T (p.Gly587Ter) c.1669G>T (p.Gly557Ter) c.1204G>T (p.Gly402Ter) c.373G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.87939979C= | CA2153352726 | GALC | c.1837G= (p.Gly613=) c.1768G= (p.Gly590=) c.1759G= (p.Gly587=) c.1669G= (p.Gly557=) c.1204G= (p.Gly402=) c.373G= | dbSNP |
| 14 | g.87939979C>T | CA390745558 | GALC | c.1837G>A (p.Gly613Arg) c.1768G>A (p.Gly590Arg) c.1759G>A (p.Gly587Arg) c.1669G>A (p.Gly557Arg) c.1204G>A (p.Gly402Arg) c.373G>A | dbSNP gnomAD v4 |