| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87986600C>T | CA277469 | GALC | c.331G>A (p.Gly111Ser) c.262G>A (p.Gly88Ser) c.253G>A (p.Gly85Ser) n.321G>A c.163G>A (p.Gly55Ser) c.*80G>A (n.*80G>A) n.210G>A n.32G>A c.391G>A (n.391G>A) c.321G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87986600C= | CA2153386619 | GALC | c.331G= (p.Gly111=) c.262G= (p.Gly88=) c.253G= (p.Gly85=) n.321G= c.163G= (p.Gly55=) c.*80G= (n.*80G=) n.210G= n.32G= c.391G= (n.391G=) c.321G= | dbSNP |