| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87945632G>A | CA274231 | GALC | c.1591C>T (p.Arg531Cys) c.1522C>T (p.Arg508Cys) c.1513C>T (p.Arg505Cys) c.1423C>T (p.Arg475Cys) c.958C>T (p.Arg320Cys) c.206+2096C>T c.*989C>T (n.*989C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87945632G= | CA2153356840 | GALC | c.1591C= (p.Arg531=) c.1522C= (p.Arg508=) c.1513C= (p.Arg505=) c.1423C= (p.Arg475=) c.958C= (p.Arg320=) c.206+2096C= c.*989C= (n.*989C=) | dbSNP |