| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16986864A>C | CA18625694 | ATP13A2 | c.3176T>G (p.Leu1059Arg) c.3044T>G (p.Leu1015Arg) c.3161T>G (p.Leu1054Arg) n.1050T>G c.764T>G (p.Leu255Arg) c.3173T>G (p.Leu1058Arg) c.3149T>G (p.Leu1050Arg) c.3116T>G (p.Leu1039Arg) c.3059T>G (p.Leu1020Arg) c.3158T>G (p.Leu1053Arg) c.3134T>G (p.Leu1045Arg) c.2969T>G (p.Leu990Arg) c.3131T>G (p.Leu1044Arg) | ClinVar dbSNP |
| 1 | g.16986864A= | CA1141580612 | ATP13A2 | c.3176T= (p.Leu1059=) c.3044T= (p.Leu1015=) c.3161T= (p.Leu1054=) n.1050T= c.764T= (p.Leu255=) c.3173T= (p.Leu1058=) c.3149T= (p.Leu1050=) c.3116T= (p.Leu1039=) c.3059T= (p.Leu1020=) c.3158T= (p.Leu1053=) c.3134T= (p.Leu1045=) c.2969T= (p.Leu990=) c.3131T= (p.Leu1044=) | dbSNP |