| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.35737335C>T | CA130878 | GBA2 | c.*302G>A (n.*302G>A) c.*141G>A (n.*141G>A) c.2618G>A (p.Arg873His) c.2570G>A (p.Arg857His) c.2636G>A (p.Arg879His) c.2654G>A (p.Arg885His) c.2588G>A (p.Arg863His) c.2417G>A (p.Arg806His) c.2201G>A (p.Arg734His) c.2183G>A (p.Arg728His) c.2099G>A (p.Arg700His) c.2081G>A (p.Arg694His) c.2552G>A (p.Arg851His) c.2399G>A (p.Arg800His) c.2165G>A (p.Arg722His) c.2063G>A (p.Arg688His) c.1757G>A (p.Arg586His) | ClinVar dbSNP gnomAD v4 |
| 9 | g.35737335C= | CA1846150733 | GBA2 | c.*302G= (n.*302G=) c.*141G= (n.*141G=) c.2618G= (p.Arg873=) c.2570G= (p.Arg857=) c.2636G= (p.Arg879=) c.2654G= (p.Arg885=) c.2588G= (p.Arg863=) c.2417G= (p.Arg806=) c.2201G= (p.Arg734=) c.2183G= (p.Arg728=) c.2099G= (p.Arg700=) c.2081G= (p.Arg694=) c.2552G= (p.Arg851=) c.2399G= (p.Arg800=) c.2165G= (p.Arg722=) c.2063G= (p.Arg688=) c.1757G= (p.Arg586=) | dbSNP |