| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87992992del | CA16619889 | GALC | c.173del (p.Ile58ThrfsTer14) c.173del (p.Ile58ThrfsTer18) c.117+391del (n.117+391del) n.163del c.131del (p.Ile44ThrfsTer16) c.163del | ClinVar dbSNP gnomAD v4 |
| 14 | g.87992992A= | CA3206973077 | GALC | c.173T= (p.Ile58=) c.117+391T= (n.117+391T=) n.163T= c.131T= (p.Ile44=) c.163T= | dbSNP |