| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87941433A>C | CA259865 | GALC | c.1796T>G (p.Ile599Ser) c.1727T>G (p.Ile576Ser) c.1718T>G (p.Ile573Ser) c.1628T>G (p.Ile543Ser) c.1163T>G (p.Ile388Ser) c.332T>G c.*1194T>G (n.*1194T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.87941433A= | CA2153353359 | GALC | c.1796T= (p.Ile599=) c.1727T= (p.Ile576=) c.1718T= (p.Ile573=) c.1628T= (p.Ile543=) c.1163T= (p.Ile388=) c.332T= c.*1194T= (n.*1194T=) | dbSNP |