Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.40263898C>A | CA384399304 | LRRK2 | c.1653C>A (p.Asn551Lys) c.*562C>A (n.*562C>A) c.1398C>A (p.Asn466Lys) c.897C>A (p.Asn299Lys) c.450C>A (p.Asn150Lys) n.1895C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.40263898C>G | CA343489 | LRRK2 | c.1653C>G (p.Asn551Lys) c.*562C>G (n.*562C>G) c.1398C>G (p.Asn466Lys) c.897C>G (p.Asn299Lys) c.450C>G (p.Asn150Lys) n.1895C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |