| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87945566C>T | CA274392 | GALC | c.1657G>A (p.Gly553Arg) c.1588G>A (p.Gly530Arg) c.1579G>A (p.Gly527Arg) c.1489G>A (p.Gly497Arg) c.1024G>A (p.Gly342Arg) c.206+2162G>A c.*1055G>A (n.*1055G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87945566C= | CA2153356493 | GALC | c.1657G= (p.Gly553=) c.1588G= (p.Gly530=) c.1579G= (p.Gly527=) c.1489G= (p.Gly497=) c.1024G= (p.Gly342=) c.206+2162G= c.*1055G= (n.*1055G=) | dbSNP |