| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87945680C>T | CA274999 | GALC | c.1543G>A (p.Glu515Lys) c.1474G>A (p.Glu492Lys) c.1465G>A (p.Glu489Lys) c.1375G>A (p.Glu459Lys) c.910G>A (p.Glu304Lys) c.206+2048G>A c.*941G>A (n.*941G>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.87945680C= | CA2153356923 | GALC | c.1543G= (p.Glu515=) c.1474G= (p.Glu492=) c.1465G= (p.Glu489=) c.1375G= (p.Glu459=) c.910G= (p.Glu304=) c.206+2048G= c.*941G= (n.*941G=) | dbSNP |