| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40310434C>T | CA339922 | LRRK2 | c.4321C>T (p.Arg1441Cys) c.*3230C>T (n.*3230C>T) c.4066C>T (p.Arg1356Cys) c.4C>T (p.Arg2Cys) c.1617C>T n.1002C>T c.3118C>T (p.Arg1040Cys) c.1237C>T (p.Arg413Cys) c.583C>T (p.Arg195Cys) n.4563C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40310434C>G | CA339918 | LRRK2 | c.4321C>G (p.Arg1441Gly) c.*3230C>G (n.*3230C>G) c.4066C>G (p.Arg1356Gly) c.4C>G (p.Arg2Gly) c.1617C>G n.1002C>G c.3118C>G (p.Arg1040Gly) c.1237C>G (p.Arg413Gly) c.583C>G (p.Arg195Gly) n.4563C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.40310434C>A | CA358589 | LRRK2 | c.4321C>A (p.Arg1441Ser) c.*3230C>A (n.*3230C>A) c.4066C>A (p.Arg1356Ser) c.4C>A (p.Arg2Ser) c.1617C>A n.1002C>A c.3118C>A (p.Arg1040Ser) c.1237C>A (p.Arg413Ser) c.583C>A (p.Arg195Ser) n.4563C>A | ClinVar dbSNP |