Genename |
Variants |
ATP2B1(NM_001001323,ATPase, Ca++ transporting, plasma membrane 1,1176aa) |
g.12:90015375T>C,c.1538A>G,p.Y513C |
ATP2B1(NM_001001323,ATPase, Ca++ transporting, plasma membrane 1,1176aa) |
g.12:89995138T>C,c.3133A>G,p.I1045V |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3854608G>A,c.400C>T,p.R134C |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3854016G>A,c.515C>T,p.T172M |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3850975C>T,c.805G>A,p.V269M |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3850790G>C,c.990C>G,p.N330K |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3844933C>T,c.1561G>A,p.V521M |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3844845C>T,c.1649G>A,p.R550Q |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3844576C>T,c.1789G>A,p.V597I |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3844399G>A,c.1966C>T,p.R656C |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3844345G>A,c.2020C>T,p.R674C |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3840797G>T,c.2234C>A,p.A745D |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3833686C>T,c.2653G>A,p.G885S |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3833665C>T,c.2674G>A,p.E892K |
ATP2A3(NM_174953,ATPase, Ca++ transporting, ubiquitous,1052aa) |
g.17:3833665C>G,c.2674G>C,p.E892Q |
ATP2A2(NM_170665,ATPase, Ca++ transporting, cardiac muscle, slow twitch 2,1042aa) |
g.12:110784091C>T,c.2945C>T,p.T982M |
ATP2A2(NM_170665,ATPase, Ca++ transporting, cardiac muscle, slow twitch 2,1042aa) |
g.12:110783862T>C,c.2798T>C,p.V933A |
ATP2A2(NM_170665,ATPase, Ca++ transporting, cardiac muscle, slow twitch 2,1042aa) |
g.12:110780107G>A,c.2172G>A,p.A724A |
ATP2A2(NM_170665,ATPase, Ca++ transporting, cardiac muscle, slow twitch 2,1042aa) |
g.12:110734406A>G,c.327A>G,p.E109E |
ATP2A1(NM_004320,ATPase, Ca++ transporting, cardiac muscle, fast twitch 1,994aa) |
g.16:28912151C>T,c.2014C>T,p.R672C |
ATP2A1(NM_004320,ATPase, Ca++ transporting, cardiac muscle, fast twitch 1,994aa) |
g.16:28912047G>A,c.1910G>A,p.R637Q |
ATP2A1(NM_004320,ATPase, Ca++ transporting, cardiac muscle, fast twitch 1,994aa) |
g.16:28911903C>T,c.1766C>T,p.T589M |
ATP2A1(NM_004320,ATPase, Ca++ transporting, cardiac muscle, fast twitch 1,994aa) |
g.16:28909675G>A,c.1667G>A,p.R556Q |
ATP2A1(NM_004320,ATPase, Ca++ transporting, cardiac muscle, fast twitch 1,994aa) |
g.16:28909627C>T,c.1619C>T,p.P540L |
ATP2A1(NM_004320,ATPase, Ca++ transporting, cardiac muscle, fast twitch 1,994aa) |
g.16:28909569G>A,c.1561G>A,p.V521I |
ATP2A1(NM_004320,ATPase, Ca++ transporting, cardiac muscle, fast twitch 1,994aa) |
g.16:28906225C>T,c.1370C>T,p.T457M |
ATP2A1(NM_004320,ATPase, Ca++ transporting, cardiac muscle, fast twitch 1,994aa) |
g.16:28905848C>T,c.1207C>T,p.R403W |
ATP2A1(NM_004320,ATPase, Ca++ transporting, cardiac muscle, fast twitch 1,994aa) |
g.16:28905548G>A,c.1168G>A,p.A390T |