| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155238174C>T | CA221411 | GBA1 | c.721G>A (p.Gly241Arg) c.574G>A (p.Gly192Arg) c.460G>A (p.Gly154Arg) n.508G>A n.339+1799G>A n.326G>A n.344G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.155238174C= | CA1139794636 | GBA1 | c.721G= (p.Gly241=) c.574G= (p.Gly192=) c.460G= (p.Gly154=) n.508G= n.339+1799G= n.326G= n.344G= | dbSNP |