Genename |
Variants |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160141123G>A,c.1574G>A,p.C525Y |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160136483G>A,c.1213G>A,p.V405M |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160136372A>G,c.1102A>G,p.N368D |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160134056G>A,c.889G>A,p.E297K |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160133955G>A,c.788G>A,p.R263Q |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160129260A>G,c.722A>G,p.H241R |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160128900C>T,c.634C>T,p.R212W |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160125871G>A,c.448G>A,p.V150I |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160125859G>A,c.436G>A,p.V146I |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160125005G>T,c.378G>T,p.Q126H |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160124875G>A,c.248G>A,p.G83D |
ATP1A4(NM_144699,ATPase, Na+/K+ transporting, alpha 4 polypeptide,1029aa) |
g.1:160121869T>A,c.39T>A,p.H13Q |
ATP1A3(NM_001256214,ATPase, Na+/K+ transporting, alpha 3 polypeptide,1026aa) |
g.19:42485704G>A,c.1426C>T,p.R476C |
ATP1A3(NM_001256214,ATPase, Na+/K+ transporting, alpha 3 polypeptide,1026aa) |
g.19:42474390C>T,c.2528G>A,p.R843Q |
ATP1A2(NM_000702,ATPase, Na+/K+ transporting, alpha 2 polypeptide,1020aa) |
g.1:160100226A>T,c.1666A>T,p.N556Y |
ATP1A2(NM_000702,ATPase, Na+/K+ transporting, alpha 2 polypeptide,1020aa) |
g.1:160099904G>A,c.1474G>A,p.E492K |
ATP1A2(NM_000702,ATPase, Na+/K+ transporting, alpha 2 polypeptide,1020aa) |
g.1:160097429G>A,c.836G>A,p.R279Q |
ATP1A2(NM_000702,ATPase, Na+/K+ transporting, alpha 2 polypeptide,1020aa) |
g.1:160093019G>T,c.194G>T,p.R65L |
ATP1A1(NM_001160233,ATPase, Na+/K+ transporting, alpha 1 polypeptide,1023aa) |
g.1:116937809A>G,c.1738A>G,p.I580V |
ATP13A5(NM_198505,ATPase type 13A5,1218aa) |
g.3:193082053C>T,c.80G>A,p.R27Q |
ATP13A5(NM_198505,ATPase type 13A5,1218aa) |
g.3:193082038C>T,c.95G>A,p.R32Q |
ATP13A5(NM_198505,ATPase type 13A5,1218aa) |
g.3:193082009G>T,c.124C>A,p.L42M |
ATP13A5(NM_198505,ATPase type 13A5,1218aa) |
g.3:193081962del,c.171del,p.57fs |
ATP13A5(NM_198505,ATPase type 13A5,1218aa) |
g.3:193081122G>T,c.287C>A,p.S96Y |
ATP13A5(NM_198505,ATPase type 13A5,1218aa) |
g.3:193080417T>G,c.394A>C,p.M132L |
ATP13A5(NM_198505,ATPase type 13A5,1218aa) |
g.3:193080414C>G,c.397G>C,p.E133Q |
ATP13A5(NM_198505,ATPase type 13A5,1218aa) |
g.3:193080218A>C,c.488T>G,p.I163S |
ATP13A5(NM_198505,ATPase type 13A5,1218aa) |
g.3:193068983T>C,c.614A>G,p.N205S |