| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87963392C>A | CA252877 | GALC | c.1153G>T (p.Glu385Ter) c.1084G>T (p.Glu362Ter) c.1075G>T (p.Glu359Ter) n.1143G>T c.985G>T (p.Glu329Ter) c.520G>T (p.Glu174Ter) c.*551G>T (n.*551G>T) n.239G>T c.1143G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.87963392C= | CA2153344241 | GALC | c.1153G= (p.Glu385=) c.1084G= (p.Glu362=) c.1075G= (p.Glu359=) n.1143G= c.985G= (p.Glu329=) c.520G= (p.Glu174=) c.*551G= (n.*551G=) n.239G= c.1143G= | dbSNP |