| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40364850T>C | CA6514881 | LRRK2 | c.7190T>C (p.Met2397Thr) c.987T>C c.*6099T>C (n.*6099T>C) c.2964T>C c.980T>C c.2635T>C (n.2635T>C) c.4277T>C c.2357T>C (n.2357T>C) c.2647T>C c.6935T>C (p.Met2312Thr) n.3174T>C c.2873T>C (p.Met958Thr) n.397T>C c.4486T>C n.3871T>C c.5987T>C (p.Met1996Thr) n.485-10023A>G c.4106T>C (p.Met1369Thr) c.3452T>C (p.Met1151Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40364850T= | CA343686 | LRRK2 | c.7190T= (p.Met2397=) c.987T= c.*6099T= (n.*6099T=) c.2964T= c.980T= c.2635T= (n.2635T=) c.4277T= c.2357T= (n.2357T=) c.2647T= c.6935T= (p.Met2312=) n.3174T= c.2873T= (p.Met958=) n.397T= c.4486T= n.3871T= c.5987T= (p.Met1996=) n.485-10023A= c.4106T= (p.Met1369=) c.3452T= (p.Met1151=) | ClinVar dbSNP |