Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.40309109G>T | CA6514111 | LRRK2 | c.4193G>T (p.Arg1398Leu) c.*3102G>T (n.*3102G>T) c.3938G>T (p.Arg1313Leu) c.1489G>T n.874G>T c.2990G>T (p.Arg997Leu) c.1109G>T (p.Arg370Leu) c.455G>T (p.Arg152Leu) n.4435G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40309109G>A | CA343567 | LRRK2 | c.4193G>A (p.Arg1398His) c.*3102G>A (n.*3102G>A) c.3938G>A (p.Arg1313His) c.1489G>A n.874G>A c.2990G>A (p.Arg997His) c.1109G>A (p.Arg370His) c.455G>A (p.Arg152His) n.4435G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |