| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40340400G>A | CA339926 | LRRK2 | c.6055G>A (p.Gly2019Ser) c.*4964G>A (n.*4964G>A) c.1829G>A c.1500G>A (n.1500G>A) c.1700G>A c.1222G>A (n.1222G>A) c.1512G>A c.5800G>A (p.Gly1934Ser) n.2039G>A c.1738G>A (p.Gly580Ser) c.3351G>A n.2736G>A c.4852G>A (p.Gly1618Ser) c.2971G>A (p.Gly991Ser) c.2317G>A (p.Gly773Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40340400G= | CA2031027270 | LRRK2 | c.6055G= (p.Gly2019=) c.*4964G= (n.*4964G=) c.1829G= c.1500G= (n.1500G=) c.1700G= c.1222G= (n.1222G=) c.1512G= c.5800G= (p.Gly1934=) n.2039G= c.1738G= (p.Gly580=) c.3351G= n.2736G= c.4852G= (p.Gly1618=) c.2971G= (p.Gly991=) c.2317G= (p.Gly773=) | dbSNP |