| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87947791dup | CA16041693 | GALC | c.1426dup (p.Ser476LysfsTer16) c.1357dup (p.Ser453LysfsTer16) c.1348dup (p.Ser450LysfsTer16) c.1258dup (p.Ser420LysfsTer16) c.793dup (p.Ser265LysfsTer16) c.143dup c.*824dup (n.*824dup) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87947791T= | CA2153358818 | GALC | c.1426A= (p.Ser476=) c.1357A= (p.Ser453=) c.1348A= (p.Ser450=) c.1258A= (p.Ser420=) c.793A= (p.Ser265=) c.143A= c.*824A= (n.*824A=) | dbSNP dbSNP |