Genename |
Variants |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84476135A>G,c.1331A>G,p.N444S |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84474539A>G,c.1286A>G,p.N429S |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84474484G>A,c.1231G>A,p.G411S |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84473123G>A,c.1202G>A,p.R401H |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84473044G>A,c.1123G>A,p.V375I |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84472851A>G,c.1066A>G,p.K356E |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84472836G>A,c.1051G>A,p.V351M |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84472804C>T,c.1019C>T,p.P340L |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84456032G>T,c.661G>T,p.G221W |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84456014G>T,c.643G>T,p.D215Y |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84456000C>T,c.629C>T,p.T210M |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84449186C>T,c.613C>T,p.R205X |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84444359C>T,c.503C>T,p.P168L |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84444349A>C,c.493A>C,p.M165L |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84444206C>G,c.450C>G,p.I150M |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84444193C>T,c.437C>T,p.T146I |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84442095G>A,c.412G>A,p.A138T |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84438827G>A,c.304G>A,p.V102M |
ATP2C2(NM_014861,ATPase, Ca++ transporting, type 2C, member 2,946aa) |
g.16:84432118G>A,c.113G>A,p.S38N |
ATP2C1(NM_001199179,ATPase, Ca++ transporting, type 2C, member 1,919aa) |
g.3:130718472G>A,c.2598G>A,p.K866K |
ATP2C1(NM_001199179,ATPase, Ca++ transporting, type 2C, member 1,919aa) |
g.3:130699432G>A,c.1748G>A,p.R583H |
ATP2C1(NM_001199179,ATPase, Ca++ transporting, type 2C, member 1,919aa) |
g.3:130686219A>T,c.1264A>T,p.M422L |
ATP2C1(NM_001199179,ATPase, Ca++ transporting, type 2C, member 1,919aa) |
g.3:130686175C>T,c.1220C>T,p.A407V |
ATP2C1(NM_001199179,ATPase, Ca++ transporting, type 2C, member 1,919aa) |
g.3:130683885C>T,c.1118C>T,p.A373V |
ATP2C1(NM_001199179,ATPase, Ca++ transporting, type 2C, member 1,919aa) |
g.3:130672680A>C,c.547A>C,p.I183L |
ATP2B4(NM_001001396,ATPase, Ca++ transporting, plasma membrane 4,1170aa) |
g.1:203696548C>T,c.3158C>T,p.S1053F |
ATP2B4(NM_001001396,ATPase, Ca++ transporting, plasma membrane 4,1170aa) |
g.1:203696542C>A,c.3152C>A,p.T1051N |
ATP2B4(NM_001001396,ATPase, Ca++ transporting, plasma membrane 4,1170aa) |
g.1:203691612A>G,c.2819A>G,p.K940R |