| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87982227G>T | CA274237 | GALC | c.599C>A (p.Ser200Ter) c.530C>A (p.Ser177Ter) c.521C>A (p.Ser174Ter) n.589C>A c.431C>A (p.Ser144Ter) c.*348C>A (n.*348C>A) n.478C>A n.300C>A c.589C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.87982227G= | CA2153384564 | GALC | c.599C= (p.Ser200=) c.530C= (p.Ser177=) c.521C= (p.Ser174=) n.589C= c.431C= (p.Ser144=) c.*348C= (n.*348C=) n.478C= n.300C= c.589C= | dbSNP |