| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87945682A>G | CA10606606 | GALC | c.1541T>C (p.Phe514Ser) c.1472T>C (p.Phe491Ser) c.1463T>C (p.Phe488Ser) c.1373T>C (p.Phe458Ser) c.908T>C (p.Phe303Ser) c.206+2046T>C c.*939T>C (n.*939T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945682A= | CA2153356929 | GALC | c.1541T= (p.Phe514=) c.1472T= (p.Phe491=) c.1463T= (p.Phe488=) c.1373T= (p.Phe458=) c.908T= (p.Phe303=) c.206+2046T= c.*939T= (n.*939T=) | dbSNP |
| 14 | g.87945682A>C | CA390746230 | GALC | c.1541T>G (p.Phe514Cys) c.1472T>G (p.Phe491Cys) c.1463T>G (p.Phe488Cys) c.1373T>G (p.Phe458Cys) c.908T>G (p.Phe303Cys) c.206+2046T>G c.*939T>G (n.*939T>G) | dbSNP gnomAD v4 |