| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155237458A>C | CA028590 | GBA1 | c.882T>G (p.His294Gln) c.735T>G (p.His245Gln) c.621T>G (p.His207Gln) n.340-1170T>G n.487T>G n.505T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155237458A= | CA1143566979 | GBA1 | c.882T= (p.His294=) c.735T= (p.His245=) c.621T= (p.His207=) n.340-1170T= n.487T= n.505T= | dbSNP |