Genename |
Variants |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25272832C>T,c.1567C>T,p.R523C |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25272826G>A,c.1561G>A,p.G521S |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25267027T>G,c.1388T>G,p.I463S |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25267017A>C,c.1378A>C,p.N460H |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25264516C>A,c.587C>A,p.P196H |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25263440C>T,c.473C>T,p.T158M |
ATP12A(NM_001185085,ATPase, H+/K+ transporting, nongastric, alpha polypeptide,1045aa) |
g.13:25262563_25262564insG,c.335_336insG,p.112fs |
ATP11C(NM_173694,ATPase, class VI, type 11C,1132aa) |
g.X:138897130A>C,c.342T>G,p.C114W |
ATP11C(NM_173694,ATPase, class VI, type 11C,1132aa) |
g.X:138882252T>C,c.686A>G,p.N229S |
ATP11C(NM_173694,ATPase, class VI, type 11C,1132aa) |
g.X:138869368T>C,c.1565A>G,p.Y522C |
ATP11C(NM_173694,ATPase, class VI, type 11C,1132aa) |
g.X:138827940C>T,c.2914G>A,p.V972M |
ATP11B(NM_014616,ATPase, class VI, type 11B,1177aa) |
g.3:182631701C>A,c.3371C>A,p.P1124Q |
ATP11B(NM_014616,ATPase, class VI, type 11B,1177aa) |
g.3:182616549G>A,c.3307G>A,p.E1103K |
ATP11B(NM_014616,ATPase, class VI, type 11B,1177aa) |
g.3:182607215G>A,c.2861G>A,p.R954H |
ATP11B(NM_014616,ATPase, class VI, type 11B,1177aa) |
g.3:182584117A>G,c.1505A>G,p.N502S |
ATP11B(NM_014616,ATPase, class VI, type 11B,1177aa) |
g.3:182583365C>T,c.1322C>T,p.P441L |
ATP11B(NM_014616,ATPase, class VI, type 11B,1177aa) |
g.3:182583338T>A,c.1295T>A,p.I432N |
ATP11B(NM_014616,ATPase, class VI, type 11B,1177aa) |
g.3:182554905A>G,c.599A>G,p.N200S |
ATP11A(NM_015205,ATPase, class VI, type 11A,1134aa) |
g.13:113530221G>A,c.3293G>A,p.R1098Q |
ATP11A(NM_015205,ATPase, class VI, type 11A,1134aa) |
g.13:113530199G>A,c.3271G>A,p.V1091I |
ATP11A(NM_015205,ATPase, class VI, type 11A,1134aa) |
g.13:113516824G>A,c.2926G>A,p.A976T |
ATP11A(NM_015205,ATPase, class VI, type 11A,1134aa) |
g.13:113514616G>A,c.2743G>A,p.A915T |
ATP11A(NM_015205,ATPase, class VI, type 11A,1134aa) |
g.13:113512530A>G,c.2593A>G,p.K865E |
ATP11A(NM_015205,ATPase, class VI, type 11A,1134aa) |
g.13:113508714C>T,c.2113C>T,p.R705C |
ATP11A(NM_015205,ATPase, class VI, type 11A,1134aa) |
g.13:113505454G>A,c.1913G>A,p.R638Q |
ATP11A(NM_015205,ATPase, class VI, type 11A,1134aa) |
g.13:113487286T>G,c.1508T>G,p.V503G |
ATP11A(NM_015205,ATPase, class VI, type 11A,1134aa) |
g.13:113487196G>A,c.1418G>A,p.R473Q |
ATP11A(NM_015205,ATPase, class VI, type 11A,1134aa) |
g.13:113479820A>G,c.949A>G,p.M317V |