| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87965566del | CA16041699 | GALC | c.972del (p.Met325Ter) c.903del (p.Met302Ter) c.894del (p.Met299Ter) n.962del c.804del (p.Met269Ter) c.339del (p.Met114Ter) c.*370del (n.*370del) n.58del c.962del | ClinVar dbSNP |
| 14 | g.87965566C= | CA3206973079 | GALC | c.972G= (p.Leu324=) c.903G= (p.Leu301=) c.894G= (p.Leu298=) n.962G= c.804G= (p.Leu268=) c.339G= (p.Leu113=) c.*370G= (n.*370G=) n.58G= c.962G= | dbSNP |