3 | g.81648979T>C | CA202992 | GBE1 | c.568A>G (p.Arg190Gly) n.564A>G c.445A>G (p.Arg149Gly) n.96A>G
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81648979T>A | CA78292415 | GBE1 | c.568A>T (p.Arg190Ter) n.564A>T c.445A>T (p.Arg149Ter) n.96A>T
| dbSNP gnomAD v4 |