| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155237480C>A | CA16603437 | GBA1 | c.860G>T (p.Cys287Phe) c.713G>T (p.Cys238Phe) c.599G>T (p.Cys200Phe) n.340-1192G>T n.465G>T n.483G>T | ClinVar dbSNP |
| 1 | g.155237480C= | CA2481202474 | GBA1 | c.860G= (p.Cys287=) c.713G= (p.Cys238=) c.599G= (p.Cys200=) n.340-1192G= n.465G= n.483G= | dbSNP |