| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155237577A>C | CA253088 | GBA1 | c.763T>G (p.Phe255Val) c.616T>G (p.Phe206Val) c.502T>G (p.Phe168Val) n.340-1289T>G n.368T>G n.386T>G | ClinVar dbSNP |
| 1 | g.155237577A= | CA1141581088 | GBA1 | c.763T= (p.Phe255=) c.616T= (p.Phe206=) c.502T= (p.Phe168=) n.340-1289T= n.368T= n.386T= | dbSNP |