| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.40346884A>T | CA6514629 | LRRK2 | c.6241A>T (p.Asn2081Tyr) c.38A>T c.*5150A>T (n.*5150A>T) c.2015A>T c.132A>T c.1686A>T (n.1686A>T) c.1886A>T c.1408A>T (n.1408A>T) c.1698A>T c.5986A>T (p.Asn1996Tyr) n.2225A>T c.1924A>T (p.Asn642Tyr) c.3537A>T n.2922A>T c.5038A>T (p.Asn1680Tyr) c.3157A>T (p.Asn1053Tyr) c.2503A>T (p.Asn835Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.40346884A>G | CA343651 | LRRK2 | c.6241A>G (p.Asn2081Asp) c.38A>G c.*5150A>G (n.*5150A>G) c.2015A>G c.132A>G c.1686A>G (n.1686A>G) c.1886A>G c.1408A>G (n.1408A>G) c.1698A>G c.5986A>G (p.Asn1996Asp) n.2225A>G c.1924A>G (p.Asn642Asp) c.3537A>G n.2922A>G c.5038A>G (p.Asn1680Asp) c.3157A>G (p.Asn1053Asp) c.2503A>G (p.Asn835Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |