| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87965526del | CA16041698 | GALC | c.1012del (p.Glu338AsnfsTer21) c.943del (p.Glu315AsnfsTer21) c.934del (p.Glu312AsnfsTer21) n.1002del c.844del (p.Glu282AsnfsTer21) c.379del (p.Glu127AsnfsTer21) c.*410del (n.*410del) n.98del c.1002del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.87965526C= | CA3206973078 | GALC | c.1012G= (p.Glu338=) c.943G= (p.Glu315=) c.934G= (p.Glu312=) n.1002G= c.844G= (p.Glu282=) c.379G= (p.Glu127=) c.*410G= (n.*410G=) n.98G= c.1002G= | dbSNP |