Genename |
Variants |
ATP13A2(NM_022089,ATPase type 13A2,1180aa) |
g.1:17313581C>T,c.3043G>A,p.V1015M |
ATP13A2(NM_022089,ATPase type 13A2,1180aa) |
g.1:17312829C>T,c.3430G>A,p.A1144T |
ATP13A2(NM_022089,ATPase type 13A2,1180aa) |
g.1:17312787G>A,c.3472C>T,p.R1158C |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19770790C>T,c.403G>A,p.D135N |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19770591C>T,c.496G>A,p.G166R |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19770415G>C,c.672C>G,p.S224R |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19768191G>A,c.704C>T,p.S235L |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19767834C>T,c.875G>A,p.R292Q |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19766929C>T,c.1147G>A,p.V383I |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19766400A>G,c.1333T>C,p.F445L |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19765499C>T,c.1666G>A,p.E556K |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19765421C>T,c.1744G>A,p.D582N |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19764664C>T,c.2029G>A,p.E677K |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19760645C>T,c.2440G>A,p.D814N |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19758448G>A,c.2753C>T,p.S918L |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19757073A>C,c.3189T>G,p.F1063L |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19756787G>C,c.3256C>G,p.Q1086E |
ATP13A1(NM_020410,ATPase type 13A1,1204aa) |
g.19:19756268A>T,c.3578T>A,p.F1193Y |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25285517C>T,c.3079C>T,p.R1027W |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25283889C>T,c.2704C>T,p.R902C |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25283596C>T,c.2606C>T,p.P869L |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25280563C>A,c.2149C>A,p.Q717K |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25280464G>A,c.2050G>A,p.A684T |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25280459A>G,c.2045A>G,p.K682R |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25276208C>T,c.2035C>T,p.R679W |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25276176G>A,c.2003G>A,p.R668H |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25276088G>A,c.1915G>A,p.G639S |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25272833G>A,c.1568G>A,p.R523H |