| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87968393C>T | CA7297231 | GALC | c.850G>A (p.Gly284Ser) c.781G>A (p.Gly261Ser) c.772G>A (p.Gly258Ser) n.840G>A n.605G>A c.682G>A (p.Gly228Ser) c.217G>A (p.Gly73Ser) c.*248G>A (n.*248G>A) c.840G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87968393C= | CA2153346457 | GALC | c.850G= (p.Gly284=) c.781G= (p.Gly261=) c.772G= (p.Gly258=) n.840G= n.605G= c.682G= (p.Gly228=) c.217G= (p.Gly73=) c.*248G= (n.*248G=) c.840G= | dbSNP |