| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155235196G>A | CA221394 | GBA1 | c.1504C>T (p.Arg502Cys) c.1357C>T (p.Arg453Cys) c.1243C>T (p.Arg415Cys) n.191-375C>T n.864C>T n.663C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155235196G>C | CA342710774 | GBA1 | c.1504C>G (p.Arg502Gly) c.1357C>G (p.Arg453Gly) c.1243C>G (p.Arg415Gly) n.191-375C>G n.864C>G n.663C>G | dbSNP |
| 1 | g.155235196G>T | CA1141510 | GBA1 | c.1504C>A (p.Arg502Ser) c.1357C>A (p.Arg453Ser) c.1243C>A (p.Arg415Ser) n.191-375C>A n.864C>A n.663C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |