| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40323270G>A | CA6514490 | LRRK2 | c.5620G>A (p.Glu1874Lys) c.*4529G>A (n.*4529G>A) c.1394G>A c.1065G>A (n.1065G>A) c.1265G>A c.787G>A (n.787G>A) c.1077G>A c.5365G>A (p.Glu1789Lys) n.1604G>A c.1303G>A (p.Glu435Lys) c.2916G>A n.2301G>A c.4417G>A (p.Glu1473Lys) c.2536G>A (p.Glu846Lys) c.1882G>A (p.Glu628Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.40323270G>T | CA343640 | LRRK2 | c.5620G>T (p.Glu1874Ter) c.*4529G>T (n.*4529G>T) c.1394G>T c.1065G>T (n.1065G>T) c.1265G>T c.787G>T (n.787G>T) c.1077G>T c.5365G>T (p.Glu1789Ter) n.1604G>T c.1303G>T (p.Glu435Ter) c.2916G>T n.2301G>T c.4417G>T (p.Glu1473Ter) c.2536G>T (p.Glu846Ter) c.1882G>T (p.Glu628Ter) | ClinVar dbSNP |
| 12 | g.40323270G= | CA2031001384 | LRRK2 | c.5620G= (p.Glu1874=) c.*4529G= (n.*4529G=) c.1394G= c.1065G= (n.1065G=) c.1265G= c.787G= (n.787G=) c.1077G= c.5365G= (p.Glu1789=) n.1604G= c.1303G= (p.Glu435=) c.2916G= n.2301G= c.4417G= (p.Glu1473=) c.2536G= (p.Glu846=) c.1882G= (p.Glu628=) | dbSNP |