| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40252984C>T | CA343473 | LRRK2 | c.1256C>T (p.Ala419Val) c.*165C>T (n.*165C>T) c.630C>T (p.Cys210=) c.53C>T (p.Ala18Val) n.1498C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.40252984C>G | CA384409525 | LRRK2 | c.1256C>G (p.Ala419Gly) c.*165C>G (n.*165C>G) c.630C>G (p.Cys210Trp) c.53C>G (p.Ala18Gly) n.1498C>G | dbSNP gnomAD v4 |
| 12 | g.40252984C>A | CA384409524 | LRRK2 | c.1256C>A (p.Ala419Glu) c.*165C>A (n.*165C>A) c.630C>A (p.Cys210Ter) c.53C>A (p.Ala18Glu) n.1498C>A | dbSNP gnomAD v4 |
| 12 | g.40252984C= | CA2030897681 | LRRK2 | c.1256C= (p.Ala419=) c.*165C= (n.*165C=) c.630C= (p.Cys210=) c.53C= (p.Ala18=) n.1498C= | dbSNP |