| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87976482T>A | CA7297285 | GALC | c.628A>T (p.Arg210Ter) c.559A>T (p.Arg187Ter) c.550A>T (p.Arg184Ter) n.618A>T n.383A>T c.460A>T (p.Arg154Ter) n.507A>T c.-6A>T (n.-6A>T) c.*26A>T (n.*26A>T) c.618A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87976482T= | CA2153381807 | GALC | c.628A= (p.Arg210=) c.559A= (p.Arg187=) c.550A= (p.Arg184=) n.618A= n.383A= c.460A= (p.Arg154=) n.507A= c.-6A= (n.-6A=) c.*26A= (n.*26A=) c.618A= | dbSNP |