| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155237357G>A | CA253072 | GBA1 | c.983C>T (p.Pro328Leu) c.836C>T (p.Pro279Leu) c.722C>T (p.Pro241Leu) n.340-1069C>T n.588C>T n.606C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.155237357G= | CA1141581086 | GBA1 | c.983C= (p.Pro328=) c.836C= (p.Pro279=) c.722C= (p.Pro241=) n.340-1069C= n.588C= n.606C= | dbSNP |