| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40283897C>T | CA343507 | LRRK2 | c.2264C>T (p.Pro755Leu) c.*1173C>T (n.*1173C>T) c.2009C>T (p.Pro670Leu) c.1508C>T (p.Pro503Leu) c.1061C>T (p.Pro354Leu) n.2506C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40283897C>A | CA384406350 | LRRK2 | c.2264C>A (p.Pro755His) c.*1173C>A (n.*1173C>A) c.2009C>A (p.Pro670His) c.1508C>A (p.Pro503His) c.1061C>A (p.Pro354His) n.2506C>A | dbSNP gnomAD v4 |
| 12 | g.40283897C= | CA2030976098 | LRRK2 | c.2264C= (p.Pro755=) c.*1173C= (n.*1173C=) c.2009C= (p.Pro670=) c.1508C= (p.Pro503=) c.1061C= (p.Pro354=) n.2506C= | dbSNP |