| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40323255A>G | CA343634 | LRRK2 | c.5605A>G (p.Met1869Val) c.*4514A>G (n.*4514A>G) c.1379A>G c.1050A>G (n.1050A>G) c.1250A>G c.772A>G (n.772A>G) c.1062A>G c.5350A>G (p.Met1784Val) n.1589A>G c.1288A>G (p.Met430Val) c.2901A>G n.2286A>G c.4402A>G (p.Met1468Val) c.2521A>G (p.Met841Val) c.1867A>G (p.Met623Val) | ClinVar dbSNP |
| 12 | g.40323255A= | CA2031001342 | LRRK2 | c.5605A= (p.Met1869=) c.*4514A= (n.*4514A=) c.1379A= c.1050A= (n.1050A=) c.1250A= c.772A= (n.772A=) c.1062A= c.5350A= (p.Met1784=) n.1589A= c.1288A= (p.Met430=) c.2901A= n.2286A= c.4402A= (p.Met1468=) c.2521A= (p.Met841=) c.1867A= (p.Met623=) | dbSNP |
| 12 | g.40323255A>T | CA384421150 | LRRK2 | c.5605A>T (p.Met1869Leu) c.*4514A>T (n.*4514A>T) c.1379A>T c.1050A>T (n.1050A>T) c.1250A>T c.772A>T (n.772A>T) c.1062A>T c.5350A>T (p.Met1784Leu) n.1589A>T c.1288A>T (p.Met430Leu) c.2901A>T n.2286A>T c.4402A>T (p.Met1468Leu) c.2521A>T (p.Met841Leu) c.1867A>T (p.Met623Leu) | ClinVar dbSNP |