| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155237470G>A | CA421024980 | GBA1 | c.870C>T (p.Phe290=) c.723C>T (p.Phe241=) c.609C>T (p.Phe203=) n.340-1182C>T n.475C>T n.493C>T | dbSNP gnomAD v4 |
| 1 | g.155237470G>T | CA253114 | GBA1 | c.870C>A (p.Phe290Leu) c.723C>A (p.Phe241Leu) c.609C>A (p.Phe203Leu) n.340-1182C>A n.475C>A n.493C>A | ClinVar dbSNP |
| 1 | g.155237470G= | CA1141581087 | GBA1 | c.870C= (p.Phe290=) c.723C= (p.Phe241=) c.609C= (p.Phe203=) n.340-1182C= n.475C= n.493C= | dbSNP |