| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87968386C>T | CA259867 | GALC | c.857G>A (p.Gly286Asp) c.788G>A (p.Gly263Asp) c.779G>A (p.Gly260Asp) n.847G>A c.689G>A (p.Gly230Asp) c.224G>A (p.Gly75Asp) c.*255G>A (n.*255G>A) c.847G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87968386C= | CA2153346453 | GALC | c.857G= (p.Gly286=) c.788G= (p.Gly263=) c.779G= (p.Gly260=) n.847G= c.689G= (p.Gly230=) c.224G= (p.Gly75=) c.*255G= (n.*255G=) c.847G= | dbSNP |