| 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 |
| 12 | g.40263898C>T | CA479236951 | LRRK2 | c.1653C>T (p.Asn551=) c.*562C>T (n.*562C>T) c.1398C>T (p.Asn466=) c.897C>T (p.Asn299=) c.450C>T (p.Asn150=) n.1895C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.40263898C= | CA2030916099 | LRRK2 | c.1653C= (p.Asn551=) c.*562C= (n.*562C=) c.1398C= (p.Asn466=) c.897C= (p.Asn299=) c.450C= (p.Asn150=) n.1895C= | dbSNP |