| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87941529T>G | CA274200 | GALC | c.1700A>C (p.Tyr567Ser) c.1631A>C (p.Tyr544Ser) c.1622A>C (p.Tyr541Ser) c.1532A>C (p.Tyr511Ser) c.1067A>C (p.Tyr356Ser) c.236A>C c.*1098A>C (n.*1098A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87941529T= | CA2153353393 | GALC | c.1700A= (p.Tyr567=) c.1631A= (p.Tyr544=) c.1622A= (p.Tyr541=) c.1532A= (p.Tyr511=) c.1067A= (p.Tyr356=) c.236A= c.*1098A= (n.*1098A=) | dbSNP |