| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155236376C>T | CA275447 | GBA1 | c.1093G>A (p.Glu365Lys) c.946G>A (p.Glu316Lys) c.832G>A (p.Glu278Lys) n.84G>A n.340-88G>A n.698G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155236376C= | CA1139921846 | GBA1 | c.1093G= (p.Glu365=) c.946G= (p.Glu316=) c.832G= (p.Glu278=) n.84G= n.340-88G= n.698G= | dbSNP |
| 1 | g.155236376C>G | CA342716907 | GBA1 | c.1093G>C (p.Glu365Gln) c.946G>C (p.Glu316Gln) c.832G>C (p.Glu278Gln) n.84G>C n.340-88G>C n.698G>C | dbSNP |