| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.35740833G>A | CA130876 | GBA2 | c.1018C>T (p.Arg340Ter) n.590C>T c.1036C>T (p.Arg346Ter) c.799C>T (p.Arg267Ter) c.583C>T (p.Arg195Ter) c.565C>T (p.Arg189Ter) c.481C>T (p.Arg161Ter) c.463C>T (p.Arg155Ter) c.157C>T (p.Arg53Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.35740833G>C | CA5050562 | GBA2 | c.1018C>G (p.Arg340Gly) n.590C>G c.1036C>G (p.Arg346Gly) c.799C>G (p.Arg267Gly) c.583C>G (p.Arg195Gly) c.565C>G (p.Arg189Gly) c.481C>G (p.Arg161Gly) c.463C>G (p.Arg155Gly) c.157C>G (p.Arg53Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |