| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16989739A>C | CA264798 | ATP13A2 | c.2561T>G (p.Met854Arg) c.2429T>G (p.Met810Arg) c.2546T>G (p.Met849Arg) n.435T>G c.149T>G (p.Met50Arg) c.2558T>G (p.Met853Arg) c.2534T>G (p.Met845Arg) c.2501T>G (p.Met834Arg) c.2444T>G (p.Met815Arg) c.2543T>G (p.Met848Arg) c.2519T>G (p.Met840Arg) c.2354T>G (p.Met785Arg) c.2516T>G (p.Met839Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.16989739A= | CA1148224177 | ATP13A2 | c.2561T= (p.Met854=) c.2429T= (p.Met810=) c.2546T= (p.Met849=) n.435T= c.149T= (p.Met50=) c.2558T= (p.Met853=) c.2534T= (p.Met845=) c.2501T= (p.Met834=) c.2444T= (p.Met815=) c.2543T= (p.Met848=) c.2519T= (p.Met840=) c.2354T= (p.Met785=) c.2516T= (p.Met839=) | dbSNP |