| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40363526G>A | CA343677 | LRRK2 | c.7153G>A (p.Gly2385Arg) c.950G>A c.*6062G>A (n.*6062G>A) c.2927G>A c.943G>A c.2598G>A (n.2598G>A) c.4240G>A c.2320G>A (n.2320G>A) c.2610G>A c.6898G>A (p.Gly2300Arg) n.3137G>A c.2836G>A (p.Gly946Arg) n.360G>A c.4449G>A n.3834G>A c.5950G>A (p.Gly1984Arg) n.485-8699C>T c.4069G>A (p.Gly1357Arg) c.3415G>A (p.Gly1139Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.40363526G= | CA2031026015 | LRRK2 | c.7153G= (p.Gly2385=) c.950G= c.*6062G= (n.*6062G=) c.2927G= c.943G= c.2598G= (n.2598G=) c.4240G= c.2320G= (n.2320G=) c.2610G= c.6898G= (p.Gly2300=) n.3137G= c.2836G= (p.Gly946=) n.360G= c.4449G= n.3834G= c.5950G= (p.Gly1984=) n.485-8699C= c.4069G= (p.Gly1357=) c.3415G= (p.Gly1139=) | dbSNP |