| Genename | Variants |
|---|---|
| ATP4B(NM_000705,ATPase, H+/K+ exchanging, beta polypeptide,291aa) | g.13:114303822G>A,c.743C>T,p.A248V |
| ATP4B(NM_000705,ATPase, H+/K+ exchanging, beta polypeptide,291aa) | g.13:114303796C>T,c.769G>A,p.A257T |
| ATP4B(NM_000705,ATPase, H+/K+ exchanging, beta polypeptide,291aa) | g.13:114303781C>T,c.784G>A,p.V262M |
| ATP4B(NM_000705,ATPase, H+/K+ exchanging, beta polypeptide,291aa) | g.13:114303765G>A,c.800C>T,p.A267V |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36051747C>T,c.508G>A,p.A170T |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36051369G>A,c.683C>T,p.S228L |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36051333G>T,c.719C>A,p.P240H |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36050969A>G,c.794T>C,p.V265A |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36050808_36050809insA,c.954_955insT,p.318fs |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36049303T>A,c.1461A>T,p.K487N |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36049278T>G,c.1486A>C,p.T496P |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36048661C>T,c.1589G>A,p.S530N |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36047937C>T,c.1747G>A,p.D583N |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36046582G>A,c.2002C>T,p.R668C |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36046460T>A,c.2039A>T,p.Q680L |
| ATP4A(NM_000704,ATPase, H+/K+ exchanging, alpha polypeptide,1035aa) | g.19:36041988C>T,c.2911G>A,p.V971M |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84495733T>C,c.2720T>C,p.L907P |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84495318A>C,c.2482-2A>C,p.828Acceptor |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84494340T>G,c.2414T>G,p.L805R |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84494315C>T,c.2389C>T,p.R797W |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84494264G>T,c.2338G>T,p.G780W |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84492993G>C,c.2333+1G>C,p.778Donor |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84492771C>G,c.2193C>G,p.N731K |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84486806G>A,c.1894G>A,p.V632M |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84485677T>A,c.1811T>A,p.L604Q |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84485525A>T,c.1661-2A>T,p.554Acceptor |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84479955A>C,c.1422A>C,p.K474N |
| ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) | g.16:84476200A>T,c.1396A>T,p.M466L |