| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155235829C>A | CA221390 | GBA1 | c.1240G>T (p.Val414Leu) c.1093G>T (p.Val365Leu) c.979G>T (p.Val327Leu) n.7G>T n.231G>T n.399G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155235829C>G | CA342714108 | GBA1 | c.1240G>C (p.Val414Leu) c.1093G>C (p.Val365Leu) c.979G>C (p.Val327Leu) n.7G>C n.231G>C n.399G>C | ClinVar dbSNP |