| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155237453C>T | CA221417 | GBA1 | c.887G>A (p.Arg296Gln) c.740G>A (p.Arg247Gln) c.626G>A (p.Arg209Gln) n.340-1165G>A n.492G>A n.510G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.155237453C= | CA1141119747 | GBA1 | c.887G= (p.Arg296=) c.740G= (p.Arg247=) c.626G= (p.Arg209=) n.340-1165G= n.492G= n.510G= | dbSNP |