| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87976452G>A | CA274279 | GALC | c.658C>T (p.Arg220Ter) c.589C>T (p.Arg197Ter) c.580C>T (p.Arg194Ter) n.648C>T n.413C>T c.490C>T (p.Arg164Ter) n.537C>T c.25C>T (p.Arg9Ter) c.*56C>T (n.*56C>T) c.648C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87976452G= | CA2153381798 | GALC | c.658C= (p.Arg220=) c.589C= (p.Arg197=) c.580C= (p.Arg194=) n.648C= n.413C= c.490C= (p.Arg164=) n.537C= c.25C= (p.Arg9=) c.*56C= (n.*56C=) c.648C= | dbSNP |
| 14 | g.87976452G>C | CA390749652 | GALC | c.658C>G (p.Arg220Gly) c.589C>G (p.Arg197Gly) c.580C>G (p.Arg194Gly) n.648C>G n.413C>G c.490C>G (p.Arg164Gly) n.537C>G c.25C>G (p.Arg9Gly) c.*56C>G (n.*56C>G) c.648C>G | dbSNP gnomAD v4 |