Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.40298488A>G | CA343539 | LRRK2 | c.3342A>G (p.Leu1114=) c.*2251A>G (n.*2251A>G) c.3087A>G (p.Leu1029=) c.386A>G n.23A>G c.2139A>G (p.Leu713=) c.258A>G (p.Leu86=) n.3584A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.40298488A= | CA2030982859 | LRRK2 | c.3342A= (p.Leu1114=) c.*2251A= (n.*2251A=) c.3087A= (p.Leu1029=) c.386A= n.23A= c.2139A= (p.Leu713=) c.258A= (p.Leu86=) n.3584A= | dbSNP |