| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155238192A>G | CA341581 | GBA1 | c.703T>C (p.Ser235Pro) c.556T>C (p.Ser186Pro) c.442T>C (p.Ser148Pro) n.490T>C n.339+1781T>C n.308T>C n.326T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155238192A= | CA1139849891 | GBA1 | c.703T= (p.Ser235=) c.556T= (p.Ser186=) c.442T= (p.Ser148=) n.490T= n.339+1781T= n.308T= n.326T= | dbSNP |