| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155238141A>C | CA342721173 | GBA1 | c.754T>G (p.Phe252Val) c.607T>G (p.Phe203Val) c.493T>G (p.Phe165Val) n.541T>G n.339+1832T>G n.359T>G n.377T>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155238141A>T | CA221413 | GBA1 | c.754T>A (p.Phe252Ile) c.607T>A (p.Phe203Ile) c.493T>A (p.Phe165Ile) n.541T>A n.339+1832T>A n.359T>A n.377T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155238141A= | CA1139793630 | GBA1 | c.754T= (p.Phe252=) c.607T= (p.Phe203=) c.493T= (p.Phe165=) n.541T= n.339+1832T= n.359T= n.377T= | dbSNP |