Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.16986218G>A | CA18624631 | ATP13A2 | c.*3C>T (n.*3C>T) c.3244C>T (p.Gln1082Ter) n.1592C>T c.964C>T (p.Gln322Ter) c.3376C>T (p.Gln1126Ter) c.3373C>T (p.Gln1125Ter) c.3361C>T (p.Gln1121Ter) c.3349C>T (p.Gln1117Ter) c.3316C>T (p.Gln1106Ter) c.3259C>T (p.Gln1087Ter) c.3358C>T (p.Gln1120Ter) c.3334C>T (p.Gln1112Ter) c.3169C>T (p.Gln1057Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986218G>C | CA338231833 | ATP13A2 | c.*3C>G (n.*3C>G) c.3244C>G (p.Gln1082Glu) n.1592C>G c.964C>G (p.Gln322Glu) c.3376C>G (p.Gln1126Glu) c.3373C>G (p.Gln1125Glu) c.3361C>G (p.Gln1121Glu) c.3349C>G (p.Gln1117Glu) c.3316C>G (p.Gln1106Glu) c.3259C>G (p.Gln1087Glu) c.3358C>G (p.Gln1120Glu) c.3334C>G (p.Gln1112Glu) c.3169C>G (p.Gln1057Glu) | dbSNP |
1 | g.16986218G= | CA1156049187 | ATP13A2 | c.*3C= (n.*3C=) c.3244C= (p.Gln1082=) n.1592C= c.964C= (p.Gln322=) c.3376C= (p.Gln1126=) c.3373C= (p.Gln1125=) c.3361C= (p.Gln1121=) c.3349C= (p.Gln1117=) c.3316C= (p.Gln1106=) c.3259C= (p.Gln1087=) c.3358C= (p.Gln1120=) c.3334C= (p.Gln1112=) c.3169C= (p.Gln1057=) | |
1 | g.16986218G>T | CA338231834 | ATP13A2 | c.*3C>A (n.*3C>A) c.3244C>A (p.Gln1082Lys) n.1592C>A c.964C>A (p.Gln322Lys) c.3376C>A (p.Gln1126Lys) c.3373C>A (p.Gln1125Lys) c.3361C>A (p.Gln1121Lys) c.3349C>A (p.Gln1117Lys) c.3316C>A (p.Gln1106Lys) c.3259C>A (p.Gln1087Lys) c.3358C>A (p.Gln1120Lys) c.3334C>A (p.Gln1112Lys) c.3169C>A (p.Gln1057Lys) | gnomAD v4 |
1 | g.16986219C>A | CA2643668178 | ATP13A2 | c.*2G>T (n.*2G>T) c.3243G>T (p.Val1081=) n.1591G>T c.963G>T (p.Val321=) c.3375G>T (p.Val1125=) c.3372G>T (p.Val1124=) c.3360G>T (p.Val1120=) c.3348G>T (p.Val1116=) c.3315G>T (p.Val1105=) c.3258G>T (p.Val1086=) c.3357G>T (p.Val1119=) c.3333G>T (p.Val1111=) c.3168G>T (p.Val1056=) | gnomAD v4 |
1 | g.16986220A>C | CA338231837 | ATP13A2 | c.*1T>G (n.*1T>G) c.3242T>G (p.Val1081Gly) n.1590T>G c.962T>G (p.Val321Gly) c.3374T>G (p.Val1125Gly) c.3371T>G (p.Val1124Gly) c.3359T>G (p.Val1120Gly) c.3347T>G (p.Val1116Gly) c.3314T>G (p.Val1105Gly) c.3257T>G (p.Val1086Gly) c.3356T>G (p.Val1119Gly) c.3332T>G (p.Val1111Gly) c.3167T>G (p.Val1056Gly) | gnomAD v4 |
1 | g.16986220A>G | CA338231839 | ATP13A2 | c.*1T>C (n.*1T>C) c.3242T>C (p.Val1081Ala) n.1590T>C c.962T>C (p.Val321Ala) c.3374T>C (p.Val1125Ala) c.3371T>C (p.Val1124Ala) c.3359T>C (p.Val1120Ala) c.3347T>C (p.Val1116Ala) c.3314T>C (p.Val1105Ala) c.3257T>C (p.Val1086Ala) c.3356T>C (p.Val1119Ala) c.3332T>C (p.Val1111Ala) c.3167T>C (p.Val1056Ala) | |
1 | g.16986220A>T | CA338231842 | ATP13A2 | c.*1T>A (n.*1T>A) c.3242T>A (p.Val1081Glu) n.1590T>A c.962T>A (p.Val321Glu) c.3374T>A (p.Val1125Glu) c.3371T>A (p.Val1124Glu) c.3359T>A (p.Val1120Glu) c.3347T>A (p.Val1116Glu) c.3314T>A (p.Val1105Glu) c.3257T>A (p.Val1086Glu) c.3356T>A (p.Val1119Glu) c.3332T>A (p.Val1111Glu) c.3167T>A (p.Val1056Glu) | |
1 | g.16986221C>A | CA338231851 | ATP13A2 | c.3543G>T (p.Ter1181Tyr) c.3241G>T (p.Val1081Leu) c.3528G>T (p.Ter1176Tyr) n.1589G>T c.961G>T (p.Val321Leu) c.3373G>T (p.Val1125Leu) c.3370G>T (p.Val1124Leu) c.3358G>T (p.Val1120Leu) c.3346G>T (p.Val1116Leu) c.3313G>T (p.Val1105Leu) c.3256G>T (p.Val1086Leu) c.3355G>T (p.Val1119Leu) c.3331G>T (p.Val1111Leu) c.3166G>T (p.Val1056Leu) c.3525G>T (p.Ter1175Tyr) c.3501G>T (p.Ter1167Tyr) c.3498G>T (p.Ter1166Tyr) c.3426G>T (p.Ter1142Tyr) c.3411G>T (p.Ter1137Tyr) c.3336G>T (p.Ter1112Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986221C= | CA1156049195 | ATP13A2 | c.3543G= (p.Ter1181=) c.3241G= (p.Val1081=) c.3528G= (p.Ter1176=) n.1589G= c.961G= (p.Val321=) c.3373G= (p.Val1125=) c.3370G= (p.Val1124=) c.3358G= (p.Val1120=) c.3346G= (p.Val1116=) c.3313G= (p.Val1105=) c.3256G= (p.Val1086=) c.3355G= (p.Val1119=) c.3331G= (p.Val1111=) c.3166G= (p.Val1056=) c.3525G= (p.Ter1175=) c.3501G= (p.Ter1167=) c.3498G= (p.Ter1166=) c.3426G= (p.Ter1142=) c.3411G= (p.Ter1137=) c.3336G= (p.Ter1112=) | |
1 | g.16986221C>G | CA338231848 | ATP13A2 | c.3543G>C (p.Ter1181Tyr) c.3241G>C (p.Val1081Leu) c.3528G>C (p.Ter1176Tyr) n.1589G>C c.961G>C (p.Val321Leu) c.3373G>C (p.Val1125Leu) c.3370G>C (p.Val1124Leu) c.3358G>C (p.Val1120Leu) c.3346G>C (p.Val1116Leu) c.3313G>C (p.Val1105Leu) c.3256G>C (p.Val1086Leu) c.3355G>C (p.Val1119Leu) c.3331G>C (p.Val1111Leu) c.3166G>C (p.Val1056Leu) c.3525G>C (p.Ter1175Tyr) c.3501G>C (p.Ter1167Tyr) c.3498G>C (p.Ter1166Tyr) c.3426G>C (p.Ter1142Tyr) c.3411G>C (p.Ter1137Tyr) c.3336G>C (p.Ter1112Tyr) | |
1 | g.16986221C>T | CA338231845 | ATP13A2 | c.3543G>A (p.Ter1181=) c.3241G>A (p.Val1081Met) c.3528G>A (p.Ter1176=) n.1589G>A c.961G>A (p.Val321Met) c.3373G>A (p.Val1125Met) c.3370G>A (p.Val1124Met) c.3358G>A (p.Val1120Met) c.3346G>A (p.Val1116Met) c.3313G>A (p.Val1105Met) c.3256G>A (p.Val1086Met) c.3355G>A (p.Val1119Met) c.3331G>A (p.Val1111Met) c.3166G>A (p.Val1056Met) c.3525G>A (p.Ter1175=) c.3501G>A (p.Ter1167=) c.3498G>A (p.Ter1166=) c.3426G>A (p.Ter1142=) c.3411G>A (p.Ter1137=) c.3336G>A (p.Ter1112=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986222T>A | CA338231852 | ATP13A2 | c.3542A>T (p.Ter1181Leu) c.3240A>T (p.Val1080=) c.3527A>T (p.Ter1176Leu) n.1588A>T c.960A>T (p.Val320=) c.3372A>T (p.Val1124=) c.3369A>T (p.Val1123=) c.3357A>T (p.Val1119=) c.3345A>T (p.Val1115=) c.3312A>T (p.Val1104=) c.3255A>T (p.Val1085=) c.3354A>T (p.Val1118=) c.3330A>T (p.Val1110=) c.3165A>T (p.Val1055=) c.3524A>T (p.Ter1175Leu) c.3500A>T (p.Ter1167Leu) c.3497A>T (p.Ter1166Leu) c.3425A>T (p.Ter1142Leu) c.3410A>T (p.Ter1137Leu) c.3335A>T (p.Ter1112Leu) | |
1 | g.16986222T>C | CA338231853 | ATP13A2 | c.3542A>G (p.Ter1181Trp) c.3240A>G (p.Val1080=) c.3527A>G (p.Ter1176Trp) n.1588A>G c.960A>G (p.Val320=) c.3372A>G (p.Val1124=) c.3369A>G (p.Val1123=) c.3357A>G (p.Val1119=) c.3345A>G (p.Val1115=) c.3312A>G (p.Val1104=) c.3255A>G (p.Val1085=) c.3354A>G (p.Val1118=) c.3330A>G (p.Val1110=) c.3165A>G (p.Val1055=) c.3524A>G (p.Ter1175Trp) c.3500A>G (p.Ter1167Trp) c.3497A>G (p.Ter1166Trp) c.3425A>G (p.Ter1142Trp) c.3410A>G (p.Ter1137Trp) c.3335A>G (p.Ter1112Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986222T>G | CA338231854 | ATP13A2 | c.3542A>C (p.Ter1181Ser) c.3240A>C (p.Val1080=) c.3527A>C (p.Ter1176Ser) n.1588A>C c.960A>C (p.Val320=) c.3372A>C (p.Val1124=) c.3369A>C (p.Val1123=) c.3357A>C (p.Val1119=) c.3345A>C (p.Val1115=) c.3312A>C (p.Val1104=) c.3255A>C (p.Val1085=) c.3354A>C (p.Val1118=) c.3330A>C (p.Val1110=) c.3165A>C (p.Val1055=) c.3524A>C (p.Ter1175Ser) c.3500A>C (p.Ter1167Ser) c.3497A>C (p.Ter1166Ser) c.3425A>C (p.Ter1142Ser) c.3410A>C (p.Ter1137Ser) c.3335A>C (p.Ter1112Ser) | |
1 | g.16986222T= | CA1156049199 | ATP13A2 | c.3542A= (p.Ter1181=) c.3240A= (p.Val1080=) c.3527A= (p.Ter1176=) n.1588A= c.960A= (p.Val320=) c.3372A= (p.Val1124=) c.3369A= (p.Val1123=) c.3357A= (p.Val1119=) c.3345A= (p.Val1115=) c.3312A= (p.Val1104=) c.3255A= (p.Val1085=) c.3354A= (p.Val1118=) c.3330A= (p.Val1110=) c.3165A= (p.Val1055=) c.3524A= (p.Ter1175=) c.3500A= (p.Ter1167=) c.3497A= (p.Ter1166=) c.3425A= (p.Ter1142=) c.3410A= (p.Ter1137=) c.3335A= (p.Ter1112=) | |
1 | g.16986223A= | CA1156049202 | ATP13A2 | c.3541T= (p.Ter1181=) c.3239T= (p.Val1080=) c.3526T= (p.Ter1176=) n.1587T= c.959T= (p.Val320=) c.3371T= (p.Val1124=) c.3368T= (p.Val1123=) c.3356T= (p.Val1119=) c.3344T= (p.Val1115=) c.3311T= (p.Val1104=) c.3254T= (p.Val1085=) c.3353T= (p.Val1118=) c.3329T= (p.Val1110=) c.3164T= (p.Val1055=) c.3523T= (p.Ter1175=) c.3499T= (p.Ter1167=) c.3496T= (p.Ter1166=) c.3424T= (p.Ter1142=) c.3409T= (p.Ter1137=) c.3334T= (p.Ter1112=) | |
1 | g.16986223A>C | CA338231856 | ATP13A2 | c.3541T>G (p.Ter1181Glu) c.3239T>G (p.Val1080Gly) c.3526T>G (p.Ter1176Glu) n.1587T>G c.959T>G (p.Val320Gly) c.3371T>G (p.Val1124Gly) c.3368T>G (p.Val1123Gly) c.3356T>G (p.Val1119Gly) c.3344T>G (p.Val1115Gly) c.3311T>G (p.Val1104Gly) c.3254T>G (p.Val1085Gly) c.3353T>G (p.Val1118Gly) c.3329T>G (p.Val1110Gly) c.3164T>G (p.Val1055Gly) c.3523T>G (p.Ter1175Glu) c.3499T>G (p.Ter1167Glu) c.3496T>G (p.Ter1166Glu) c.3424T>G (p.Ter1142Glu) c.3409T>G (p.Ter1137Glu) c.3334T>G (p.Ter1112Glu) | |
1 | g.16986223A>G | CA338231857 | ATP13A2 | c.3541T>C (p.Ter1181Gln) c.3239T>C (p.Val1080Ala) c.3526T>C (p.Ter1176Gln) n.1587T>C c.959T>C (p.Val320Ala) c.3371T>C (p.Val1124Ala) c.3368T>C (p.Val1123Ala) c.3356T>C (p.Val1119Ala) c.3344T>C (p.Val1115Ala) c.3311T>C (p.Val1104Ala) c.3254T>C (p.Val1085Ala) c.3353T>C (p.Val1118Ala) c.3329T>C (p.Val1110Ala) c.3164T>C (p.Val1055Ala) c.3523T>C (p.Ter1175Gln) c.3499T>C (p.Ter1167Gln) c.3496T>C (p.Ter1166Gln) c.3424T>C (p.Ter1142Gln) c.3409T>C (p.Ter1137Gln) c.3334T>C (p.Ter1112Gln) | dbSNP gnomAD v2 |
1 | g.16986223A>T | CA338231859 | ATP13A2 | c.3541T>A (p.Ter1181Lys) c.3239T>A (p.Val1080Glu) c.3526T>A (p.Ter1176Lys) n.1587T>A c.959T>A (p.Val320Glu) c.3371T>A (p.Val1124Glu) c.3368T>A (p.Val1123Glu) c.3356T>A (p.Val1119Glu) c.3344T>A (p.Val1115Glu) c.3311T>A (p.Val1104Glu) c.3254T>A (p.Val1085Glu) c.3353T>A (p.Val1118Glu) c.3329T>A (p.Val1110Glu) c.3164T>A (p.Val1055Glu) c.3523T>A (p.Ter1175Lys) c.3499T>A (p.Ter1167Lys) c.3496T>A (p.Ter1166Lys) c.3424T>A (p.Ter1142Lys) c.3409T>A (p.Ter1137Lys) c.3334T>A (p.Ter1112Lys) | |
1 | g.16986224C>A | CA338231862 | ATP13A2 | c.3540G>T (p.Arg1180Ser) c.3238G>T (p.Val1080Leu) c.3525G>T (p.Arg1175Ser) n.1586G>T c.958G>T (p.Val320Leu) c.3370G>T (p.Val1124Leu) c.3367G>T (p.Val1123Leu) c.3355G>T (p.Val1119Leu) c.3343G>T (p.Val1115Leu) c.3310G>T (p.Val1104Leu) c.3253G>T (p.Val1085Leu) c.3352G>T (p.Val1118Leu) c.3328G>T (p.Val1110Leu) c.3163G>T (p.Val1055Leu) c.3522G>T (p.Arg1174Ser) c.3498G>T (p.Arg1166Ser) c.3495G>T (p.Arg1165Ser) c.3423G>T (p.Arg1141Ser) c.3408G>T (p.Arg1136Ser) c.3333G>T (p.Arg1111Ser) | |
1 | g.16986224C>G | CA338231865 | ATP13A2 | c.3540G>C (p.Arg1180Ser) c.3238G>C (p.Val1080Leu) c.3525G>C (p.Arg1175Ser) n.1586G>C c.958G>C (p.Val320Leu) c.3370G>C (p.Val1124Leu) c.3367G>C (p.Val1123Leu) c.3355G>C (p.Val1119Leu) c.3343G>C (p.Val1115Leu) c.3310G>C (p.Val1104Leu) c.3253G>C (p.Val1085Leu) c.3352G>C (p.Val1118Leu) c.3328G>C (p.Val1110Leu) c.3163G>C (p.Val1055Leu) c.3522G>C (p.Arg1174Ser) c.3498G>C (p.Arg1166Ser) c.3495G>C (p.Arg1165Ser) c.3423G>C (p.Arg1141Ser) c.3408G>C (p.Arg1136Ser) c.3333G>C (p.Arg1111Ser) | |
1 | g.16986224C>T | CA338231863 | ATP13A2 | c.3540G>A (p.Arg1180=) c.3238G>A (p.Val1080Ile) c.3525G>A (p.Arg1175=) n.1586G>A c.958G>A (p.Val320Ile) c.3370G>A (p.Val1124Ile) c.3367G>A (p.Val1123Ile) c.3355G>A (p.Val1119Ile) c.3343G>A (p.Val1115Ile) c.3310G>A (p.Val1104Ile) c.3253G>A (p.Val1085Ile) c.3352G>A (p.Val1118Ile) c.3328G>A (p.Val1110Ile) c.3163G>A (p.Val1055Ile) c.3522G>A (p.Arg1174=) c.3498G>A (p.Arg1166=) c.3495G>A (p.Arg1165=) c.3423G>A (p.Arg1141=) c.3408G>A (p.Arg1136=) c.3333G>A (p.Arg1111=) | gnomAD v4 |
1 | g.16986225C>A | CA338231871 | ATP13A2 | c.3539G>T (p.Arg1180Met) c.3237G>T (p.Glu1079Asp) c.3524G>T (p.Arg1175Met) n.1585G>T c.957G>T (p.Glu319Asp) c.3369G>T (p.Glu1123Asp) c.3366G>T (p.Glu1122Asp) c.3354G>T (p.Glu1118Asp) c.3342G>T (p.Glu1114Asp) c.3309G>T (p.Glu1103Asp) c.3252G>T (p.Glu1084Asp) c.3351G>T (p.Glu1117Asp) c.3327G>T (p.Glu1109Asp) c.3162G>T (p.Glu1054Asp) c.3521G>T (p.Arg1174Met) c.3497G>T (p.Arg1166Met) c.3494G>T (p.Arg1165Met) c.3422G>T (p.Arg1141Met) c.3407G>T (p.Arg1136Met) c.3332G>T (p.Arg1111Met) | |
1 | g.16986225C= | CA1156049209 | ATP13A2 | c.3539G= (p.Arg1180=) c.3237G= (p.Glu1079=) c.3524G= (p.Arg1175=) n.1585G= c.957G= (p.Glu319=) c.3369G= (p.Glu1123=) c.3366G= (p.Glu1122=) c.3354G= (p.Glu1118=) c.3342G= (p.Glu1114=) c.3309G= (p.Glu1103=) c.3252G= (p.Glu1084=) c.3351G= (p.Glu1117=) c.3327G= (p.Glu1109=) c.3162G= (p.Glu1054=) c.3521G= (p.Arg1174=) c.3497G= (p.Arg1166=) c.3494G= (p.Arg1165=) c.3422G= (p.Arg1141=) c.3407G= (p.Arg1136=) c.3332G= (p.Arg1111=) | |
1 | g.16986225C>G | CA338231874 | ATP13A2 | c.3539G>C (p.Arg1180Thr) c.3237G>C (p.Glu1079Asp) c.3524G>C (p.Arg1175Thr) n.1585G>C c.957G>C (p.Glu319Asp) c.3369G>C (p.Glu1123Asp) c.3366G>C (p.Glu1122Asp) c.3354G>C (p.Glu1118Asp) c.3342G>C (p.Glu1114Asp) c.3309G>C (p.Glu1103Asp) c.3252G>C (p.Glu1084Asp) c.3351G>C (p.Glu1117Asp) c.3327G>C (p.Glu1109Asp) c.3162G>C (p.Glu1054Asp) c.3521G>C (p.Arg1174Thr) c.3497G>C (p.Arg1166Thr) c.3494G>C (p.Arg1165Thr) c.3422G>C (p.Arg1141Thr) c.3407G>C (p.Arg1136Thr) c.3332G>C (p.Arg1111Thr) | |
1 | g.16986225C>T | CA636454 | ATP13A2 | c.3539G>A (p.Arg1180Lys) c.3237G>A (p.Glu1079=) c.3524G>A (p.Arg1175Lys) n.1585G>A c.957G>A (p.Glu319=) c.3369G>A (p.Glu1123=) c.3366G>A (p.Glu1122=) c.3354G>A (p.Glu1118=) c.3342G>A (p.Glu1114=) c.3309G>A (p.Glu1103=) c.3252G>A (p.Glu1084=) c.3351G>A (p.Glu1117=) c.3327G>A (p.Glu1109=) c.3162G>A (p.Glu1054=) c.3521G>A (p.Arg1174Lys) c.3497G>A (p.Arg1166Lys) c.3494G>A (p.Arg1165Lys) c.3422G>A (p.Arg1141Lys) c.3407G>A (p.Arg1136Lys) c.3332G>A (p.Arg1111Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986226T>A | CA636455 | ATP13A2 | c.3538A>T (p.Arg1180Trp) c.3236A>T (p.Glu1079Val) c.3523A>T (p.Arg1175Trp) n.1584A>T c.956A>T (p.Glu319Val) c.3368A>T (p.Glu1123Val) c.3365A>T (p.Glu1122Val) c.3353A>T (p.Glu1118Val) c.3341A>T (p.Glu1114Val) c.3308A>T (p.Glu1103Val) c.3251A>T (p.Glu1084Val) c.3350A>T (p.Glu1117Val) c.3326A>T (p.Glu1109Val) c.3161A>T (p.Glu1054Val) c.3520A>T (p.Arg1174Trp) c.3496A>T (p.Arg1166Trp) c.3493A>T (p.Arg1165Trp) c.3421A>T (p.Arg1141Trp) c.3406A>T (p.Arg1136Trp) c.3331A>T (p.Arg1111Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986226T>C | CA338231886 | ATP13A2 | c.3538A>G (p.Arg1180Gly) c.3236A>G (p.Glu1079Gly) c.3523A>G (p.Arg1175Gly) n.1584A>G c.956A>G (p.Glu319Gly) c.3368A>G (p.Glu1123Gly) c.3365A>G (p.Glu1122Gly) c.3353A>G (p.Glu1118Gly) c.3341A>G (p.Glu1114Gly) c.3308A>G (p.Glu1103Gly) c.3251A>G (p.Glu1084Gly) c.3350A>G (p.Glu1117Gly) c.3326A>G (p.Glu1109Gly) c.3161A>G (p.Glu1054Gly) c.3520A>G (p.Arg1174Gly) c.3496A>G (p.Arg1166Gly) c.3493A>G (p.Arg1165Gly) c.3421A>G (p.Arg1141Gly) c.3406A>G (p.Arg1136Gly) c.3331A>G (p.Arg1111Gly) | |
1 | g.16986226T>G | CA338231887 | ATP13A2 | c.3538A>C (p.Arg1180=) c.3236A>C (p.Glu1079Ala) c.3523A>C (p.Arg1175=) n.1584A>C c.956A>C (p.Glu319Ala) c.3368A>C (p.Glu1123Ala) c.3365A>C (p.Glu1122Ala) c.3353A>C (p.Glu1118Ala) c.3341A>C (p.Glu1114Ala) c.3308A>C (p.Glu1103Ala) c.3251A>C (p.Glu1084Ala) c.3350A>C (p.Glu1117Ala) c.3326A>C (p.Glu1109Ala) c.3161A>C (p.Glu1054Ala) c.3520A>C (p.Arg1174=) c.3496A>C (p.Arg1166=) c.3493A>C (p.Arg1165=) c.3421A>C (p.Arg1141=) c.3406A>C (p.Arg1136=) c.3331A>C (p.Arg1111=) | |
1 | g.16986226T= | CA1156049217 | ATP13A2 | c.3538A= (p.Arg1180=) c.3236A= (p.Glu1079=) c.3523A= (p.Arg1175=) n.1584A= c.956A= (p.Glu319=) c.3368A= (p.Glu1123=) c.3365A= (p.Glu1122=) c.3353A= (p.Glu1118=) c.3341A= (p.Glu1114=) c.3308A= (p.Glu1103=) c.3251A= (p.Glu1084=) c.3350A= (p.Glu1117=) c.3326A= (p.Glu1109=) c.3161A= (p.Glu1054=) c.3520A= (p.Arg1174=) c.3496A= (p.Arg1166=) c.3493A= (p.Arg1165=) c.3421A= (p.Arg1141=) c.3406A= (p.Arg1136=) c.3331A= (p.Arg1111=) | |
1 | g.16986227C>A | CA338231891 | ATP13A2 | c.3537G>T (p.Leu1179=) c.3235G>T (p.Glu1079Ter) c.3522G>T (p.Leu1174=) n.1583G>T c.955G>T (p.Glu319Ter) c.3367G>T (p.Glu1123Ter) c.3364G>T (p.Glu1122Ter) c.3352G>T (p.Glu1118Ter) c.3340G>T (p.Glu1114Ter) c.3307G>T (p.Glu1103Ter) c.3250G>T (p.Glu1084Ter) c.3349G>T (p.Glu1117Ter) c.3325G>T (p.Glu1109Ter) c.3160G>T (p.Glu1054Ter) c.3519G>T (p.Leu1173=) c.3495G>T (p.Leu1165=) c.3492G>T (p.Leu1164=) c.3420G>T (p.Leu1140=) c.3405G>T (p.Leu1135=) c.3330G>T (p.Leu1110=) | gnomAD v4 |
1 | g.16986227C= | CA1156049226 | ATP13A2 | c.3537G= (p.Leu1179=) c.3235G= (p.Glu1079=) c.3522G= (p.Leu1174=) n.1583G= c.955G= (p.Glu319=) c.3367G= (p.Glu1123=) c.3364G= (p.Glu1122=) c.3352G= (p.Glu1118=) c.3340G= (p.Glu1114=) c.3307G= (p.Glu1103=) c.3250G= (p.Glu1084=) c.3349G= (p.Glu1117=) c.3325G= (p.Glu1109=) c.3160G= (p.Glu1054=) c.3519G= (p.Leu1173=) c.3495G= (p.Leu1165=) c.3492G= (p.Leu1164=) c.3420G= (p.Leu1140=) c.3405G= (p.Leu1135=) c.3330G= (p.Leu1110=) | |
1 | g.16986227C>G | CA338231894 | ATP13A2 | c.3537G>C (p.Leu1179=) c.3235G>C (p.Glu1079Gln) c.3522G>C (p.Leu1174=) n.1583G>C c.955G>C (p.Glu319Gln) c.3367G>C (p.Glu1123Gln) c.3364G>C (p.Glu1122Gln) c.3352G>C (p.Glu1118Gln) c.3340G>C (p.Glu1114Gln) c.3307G>C (p.Glu1103Gln) c.3250G>C (p.Glu1084Gln) c.3349G>C (p.Glu1117Gln) c.3325G>C (p.Glu1109Gln) c.3160G>C (p.Glu1054Gln) c.3519G>C (p.Leu1173=) c.3495G>C (p.Leu1165=) c.3492G>C (p.Leu1164=) c.3420G>C (p.Leu1140=) c.3405G>C (p.Leu1135=) c.3330G>C (p.Leu1110=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986227C>T | CA338231900 | ATP13A2 | c.3537G>A (p.Leu1179=) c.3235G>A (p.Glu1079Lys) c.3522G>A (p.Leu1174=) n.1583G>A c.955G>A (p.Glu319Lys) c.3367G>A (p.Glu1123Lys) c.3364G>A (p.Glu1122Lys) c.3352G>A (p.Glu1118Lys) c.3340G>A (p.Glu1114Lys) c.3307G>A (p.Glu1103Lys) c.3250G>A (p.Glu1084Lys) c.3349G>A (p.Glu1117Lys) c.3325G>A (p.Glu1109Lys) c.3160G>A (p.Glu1054Lys) c.3519G>A (p.Leu1173=) c.3495G>A (p.Leu1165=) c.3492G>A (p.Leu1164=) c.3420G>A (p.Leu1140=) c.3405G>A (p.Leu1135=) c.3330G>A (p.Leu1110=) | ClinVar dbSNP |
1 | g.16986228A>C | CA338231902 | ATP13A2 | c.3536T>G (p.Leu1179Arg) c.3234T>G (p.Pro1078=) c.3521T>G (p.Leu1174Arg) n.1582T>G c.954T>G (p.Pro318=) c.3366T>G (p.Pro1122=) c.3363T>G (p.Pro1121=) c.3351T>G (p.Pro1117=) c.3339T>G (p.Pro1113=) c.3306T>G (p.Pro1102=) c.3249T>G (p.Pro1083=) c.3348T>G (p.Pro1116=) c.3324T>G (p.Pro1108=) c.3159T>G (p.Pro1053=) c.3518T>G (p.Leu1173Arg) c.3494T>G (p.Leu1165Arg) c.3491T>G (p.Leu1164Arg) c.3419T>G (p.Leu1140Arg) c.3404T>G (p.Leu1135Arg) c.3329T>G (p.Leu1110Arg) | |
1 | g.16986228A>G | CA338231903 | ATP13A2 | c.3536T>C (p.Leu1179Pro) c.3234T>C (p.Pro1078=) c.3521T>C (p.Leu1174Pro) n.1582T>C c.954T>C (p.Pro318=) c.3366T>C (p.Pro1122=) c.3363T>C (p.Pro1121=) c.3351T>C (p.Pro1117=) c.3339T>C (p.Pro1113=) c.3306T>C (p.Pro1102=) c.3249T>C (p.Pro1083=) c.3348T>C (p.Pro1116=) c.3324T>C (p.Pro1108=) c.3159T>C (p.Pro1053=) c.3518T>C (p.Leu1173Pro) c.3494T>C (p.Leu1165Pro) c.3491T>C (p.Leu1164Pro) c.3419T>C (p.Leu1140Pro) c.3404T>C (p.Leu1135Pro) c.3329T>C (p.Leu1110Pro) | gnomAD v4 |
1 | g.16986228A>T | CA338231905 | ATP13A2 | c.3536T>A (p.Leu1179Gln) c.3234T>A (p.Pro1078=) c.3521T>A (p.Leu1174Gln) n.1582T>A c.954T>A (p.Pro318=) c.3366T>A (p.Pro1122=) c.3363T>A (p.Pro1121=) c.3351T>A (p.Pro1117=) c.3339T>A (p.Pro1113=) c.3306T>A (p.Pro1102=) c.3249T>A (p.Pro1083=) c.3348T>A (p.Pro1116=) c.3324T>A (p.Pro1108=) c.3159T>A (p.Pro1053=) c.3518T>A (p.Leu1173Gln) c.3494T>A (p.Leu1165Gln) c.3491T>A (p.Leu1164Gln) c.3419T>A (p.Leu1140Gln) c.3404T>A (p.Leu1135Gln) c.3329T>A (p.Leu1110Gln) | |
1 | g.16986228_16986229del | CA2580060604 | ATP13A2 | c.3535_3536del (p.Leu1179GlufsTer?) c.3233_3234del (p.Pro1078ArgfsTer?) c.3520_3521del (p.Leu1174GlufsTer?) n.1581_1582del c.953_954del (p.Pro318ArgfsTer?) c.3365_3366del (p.Pro1122ArgfsTer?) c.3362_3363del (p.Pro1121ArgfsTer?) c.3350_3351del (p.Pro1117ArgfsTer?) c.3338_3339del (p.Pro1113ArgfsTer?) c.3305_3306del (p.Pro1102ArgfsTer?) c.3248_3249del (p.Pro1083ArgfsTer?) c.3347_3348del (p.Pro1116ArgfsTer?) c.3323_3324del (p.Pro1108ArgfsTer?) c.3158_3159del (p.Pro1053ArgfsTer?) c.3517_3518del (p.Leu1173GlufsTer?) c.3493_3494del (p.Leu1165GlufsTer?) c.3490_3491del (p.Leu1164GlufsTer?) c.3418_3419del (p.Leu1140GlufsTer?) c.3403_3404del (p.Leu1135GlufsTer?) c.3328_3329del (p.Leu1110GlufsTer?) | ClinVar |
1 | g.16986228_16986229delinsAG | CA1156049230 | ATP13A2 | c.3535_3536delinsCT (p.Leu1179=) c.3233_3234delinsCT (p.Pro1078=) c.3520_3521delinsCT (p.Leu1174=) n.1581_1582delinsCT c.953_954delinsCT (p.Pro318=) c.3365_3366delinsCT (p.Pro1122=) c.3362_3363delinsCT (p.Pro1121=) c.3350_3351delinsCT (p.Pro1117=) c.3338_3339delinsCT (p.Pro1113=) c.3305_3306delinsCT (p.Pro1102=) c.3248_3249delinsCT (p.Pro1083=) c.3347_3348delinsCT (p.Pro1116=) c.3323_3324delinsCT (p.Pro1108=) c.3158_3159delinsCT (p.Pro1053=) c.3517_3518delinsCT (p.Leu1173=) c.3493_3494delinsCT (p.Leu1165=) c.3490_3491delinsCT (p.Leu1164=) c.3418_3419delinsCT (p.Leu1140=) c.3403_3404delinsCT (p.Leu1135=) c.3328_3329delinsCT (p.Leu1110=) | |
1 | g.16986229G>A | CA338231907 | ATP13A2 | c.3535C>T (p.Leu1179=) c.3233C>T (p.Pro1078Leu) c.3520C>T (p.Leu1174=) n.1581C>T c.953C>T (p.Pro318Leu) c.3365C>T (p.Pro1122Leu) c.3362C>T (p.Pro1121Leu) c.3350C>T (p.Pro1117Leu) c.3338C>T (p.Pro1113Leu) c.3305C>T (p.Pro1102Leu) c.3248C>T (p.Pro1083Leu) c.3347C>T (p.Pro1116Leu) c.3323C>T (p.Pro1108Leu) c.3158C>T (p.Pro1053Leu) c.3517C>T (p.Leu1173=) c.3493C>T (p.Leu1165=) c.3490C>T (p.Leu1164=) c.3418C>T (p.Leu1140=) c.3403C>T (p.Leu1135=) c.3328C>T (p.Leu1110=) | gnomAD v4 |
1 | g.16986229G>C | CA338231909 | ATP13A2 | c.3535C>G (p.Leu1179Val) c.3233C>G (p.Pro1078Arg) c.3520C>G (p.Leu1174Val) n.1581C>G c.953C>G (p.Pro318Arg) c.3365C>G (p.Pro1122Arg) c.3362C>G (p.Pro1121Arg) c.3350C>G (p.Pro1117Arg) c.3338C>G (p.Pro1113Arg) c.3305C>G (p.Pro1102Arg) c.3248C>G (p.Pro1083Arg) c.3347C>G (p.Pro1116Arg) c.3323C>G (p.Pro1108Arg) c.3158C>G (p.Pro1053Arg) c.3517C>G (p.Leu1173Val) c.3493C>G (p.Leu1165Val) c.3490C>G (p.Leu1164Val) c.3418C>G (p.Leu1140Val) c.3403C>G (p.Leu1135Val) c.3328C>G (p.Leu1110Val) | dbSNP gnomAD v4 |
1 | g.16986229G= | CA1156049240 | ATP13A2 | c.3535C= (p.Leu1179=) c.3233C= (p.Pro1078=) c.3520C= (p.Leu1174=) n.1581C= c.953C= (p.Pro318=) c.3365C= (p.Pro1122=) c.3362C= (p.Pro1121=) c.3350C= (p.Pro1117=) c.3338C= (p.Pro1113=) c.3305C= (p.Pro1102=) c.3248C= (p.Pro1083=) c.3347C= (p.Pro1116=) c.3323C= (p.Pro1108=) c.3158C= (p.Pro1053=) c.3517C= (p.Leu1173=) c.3493C= (p.Leu1165=) c.3490C= (p.Leu1164=) c.3418C= (p.Leu1140=) c.3403C= (p.Leu1135=) c.3328C= (p.Leu1110=) | |
1 | g.16986229G>T | CA338231908 | ATP13A2 | c.3535C>A (p.Leu1179Met) c.3233C>A (p.Pro1078His) c.3520C>A (p.Leu1174Met) n.1581C>A c.953C>A (p.Pro318His) c.3365C>A (p.Pro1122His) c.3362C>A (p.Pro1121His) c.3350C>A (p.Pro1117His) c.3338C>A (p.Pro1113His) c.3305C>A (p.Pro1102His) c.3248C>A (p.Pro1083His) c.3347C>A (p.Pro1116His) c.3323C>A (p.Pro1108His) c.3158C>A (p.Pro1053His) c.3517C>A (p.Leu1173Met) c.3493C>A (p.Leu1165Met) c.3490C>A (p.Leu1164Met) c.3418C>A (p.Leu1140Met) c.3403C>A (p.Leu1135Met) c.3328C>A (p.Leu1110Met) | |
1 | g.16986233dup | CA1156049237 | ATP13A2 | c.3535dup (p.Leu1179ProfsTer?) c.3233dup (p.Glu1079Ter) c.3520dup (p.Leu1174ProfsTer?) n.1581dup c.953dup (p.Glu319Ter) c.3365dup (p.Glu1123Ter) c.3362dup (p.Glu1122Ter) c.3350dup (p.Glu1118Ter) c.3338dup (p.Glu1114Ter) c.3305dup (p.Glu1103Ter) c.3248dup (p.Glu1084Ter) c.3347dup (p.Glu1117Ter) c.3323dup (p.Glu1109Ter) c.3158dup (p.Glu1054Ter) c.3517dup (p.Leu1173ProfsTer?) c.3493dup (p.Leu1165ProfsTer?) c.3490dup (p.Leu1164ProfsTer?) c.3418dup (p.Leu1140ProfsTer?) c.3403dup (p.Leu1135ProfsTer?) c.3328dup (p.Leu1110ProfsTer?) | dbSNP |
1 | g.16986233del | CA915941146 | ATP13A2 | c.3535del (p.Leu1179Ter) c.3233del (p.Pro1078LeufsTer3) c.3520del (p.Leu1174Ter) n.1581del c.953del (p.Pro318LeufsTer3) c.3365del (p.Pro1122LeufsTer3) c.3362del (p.Pro1121LeufsTer3) c.3350del (p.Pro1117LeufsTer3) c.3338del (p.Pro1113LeufsTer3) c.3305del (p.Pro1102LeufsTer3) c.3248del (p.Pro1083LeufsTer3) c.3347del (p.Pro1116LeufsTer3) c.3323del (p.Pro1108LeufsTer3) c.3158del (p.Pro1053LeufsTer3) c.3517del (p.Leu1173Ter) c.3493del (p.Leu1165Ter) c.3490del (p.Leu1164Ter) c.3418del (p.Leu1140Ter) c.3403del (p.Leu1135Ter) c.3328del (p.Leu1110Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.16986230G>A | CA338231911 | ATP13A2 | c.3534C>T (p.Pro1178=) c.3232C>T (p.Pro1078Ser) c.3519C>T (p.Pro1173=) n.1580C>T c.952C>T (p.Pro318Ser) c.3364C>T (p.Pro1122Ser) c.3361C>T (p.Pro1121Ser) c.3349C>T (p.Pro1117Ser) c.3337C>T (p.Pro1113Ser) c.3304C>T (p.Pro1102Ser) c.3247C>T (p.Pro1083Ser) c.3346C>T (p.Pro1116Ser) c.3322C>T (p.Pro1108Ser) c.3157C>T (p.Pro1053Ser) c.3516C>T (p.Pro1172=) c.3492C>T (p.Pro1164=) c.3489C>T (p.Pro1163=) c.3417C>T (p.Pro1139=) c.3402C>T (p.Pro1134=) c.3327C>T (p.Pro1109=) | dbSNP gnomAD v2 |
1 | g.16986230G>C | CA338231915 | ATP13A2 | c.3534C>G (p.Pro1178=) c.3232C>G (p.Pro1078Ala) c.3519C>G (p.Pro1173=) n.1580C>G c.952C>G (p.Pro318Ala) c.3364C>G (p.Pro1122Ala) c.3361C>G (p.Pro1121Ala) c.3349C>G (p.Pro1117Ala) c.3337C>G (p.Pro1113Ala) c.3304C>G (p.Pro1102Ala) c.3247C>G (p.Pro1083Ala) c.3346C>G (p.Pro1116Ala) c.3322C>G (p.Pro1108Ala) c.3157C>G (p.Pro1053Ala) c.3516C>G (p.Pro1172=) c.3492C>G (p.Pro1164=) c.3489C>G (p.Pro1163=) c.3417C>G (p.Pro1139=) c.3402C>G (p.Pro1134=) c.3327C>G (p.Pro1109=) | |
1 | g.16986230G= | CA1156049249 | ATP13A2 | c.3534C= (p.Pro1178=) c.3232C= (p.Pro1078=) c.3519C= (p.Pro1173=) n.1580C= c.952C= (p.Pro318=) c.3364C= (p.Pro1122=) c.3361C= (p.Pro1121=) c.3349C= (p.Pro1117=) c.3337C= (p.Pro1113=) c.3304C= (p.Pro1102=) c.3247C= (p.Pro1083=) c.3346C= (p.Pro1116=) c.3322C= (p.Pro1108=) c.3157C= (p.Pro1053=) c.3516C= (p.Pro1172=) c.3492C= (p.Pro1164=) c.3489C= (p.Pro1163=) c.3417C= (p.Pro1139=) c.3402C= (p.Pro1134=) c.3327C= (p.Pro1109=) | |
1 | g.16986230G>T | CA338231914 | ATP13A2 | c.3534C>A (p.Pro1178=) c.3232C>A (p.Pro1078Thr) c.3519C>A (p.Pro1173=) n.1580C>A c.952C>A (p.Pro318Thr) c.3364C>A (p.Pro1122Thr) c.3361C>A (p.Pro1121Thr) c.3349C>A (p.Pro1117Thr) c.3337C>A (p.Pro1113Thr) c.3304C>A (p.Pro1102Thr) c.3247C>A (p.Pro1083Thr) c.3346C>A (p.Pro1116Thr) c.3322C>A (p.Pro1108Thr) c.3157C>A (p.Pro1053Thr) c.3516C>A (p.Pro1172=) c.3492C>A (p.Pro1164=) c.3489C>A (p.Pro1163=) c.3417C>A (p.Pro1139=) c.3402C>A (p.Pro1134=) c.3327C>A (p.Pro1109=) | |
1 | g.16986231G>A | CA338231916 | ATP13A2 | c.3533C>T (p.Pro1178Leu) c.3231C>T (p.Pro1077=) c.3518C>T (p.Pro1173Leu) n.1579C>T c.951C>T (p.Pro317=) c.3363C>T (p.Pro1121=) c.3360C>T (p.Pro1120=) c.3348C>T (p.Pro1116=) c.3336C>T (p.Pro1112=) c.3303C>T (p.Pro1101=) c.3246C>T (p.Pro1082=) c.3345C>T (p.Pro1115=) c.3321C>T (p.Pro1107=) c.3156C>T (p.Pro1052=) c.3515C>T (p.Pro1172Leu) c.3491C>T (p.Pro1164Leu) c.3488C>T (p.Pro1163Leu) c.3416C>T (p.Pro1139Leu) c.3401C>T (p.Pro1134Leu) c.3326C>T (p.Pro1109Leu) | dbSNP gnomAD v4 |
1 | g.16986231G>C | CA338231918 | ATP13A2 | c.3533C>G (p.Pro1178Arg) c.3231C>G (p.Pro1077=) c.3518C>G (p.Pro1173Arg) n.1579C>G c.951C>G (p.Pro317=) c.3363C>G (p.Pro1121=) c.3360C>G (p.Pro1120=) c.3348C>G (p.Pro1116=) c.3336C>G (p.Pro1112=) c.3303C>G (p.Pro1101=) c.3246C>G (p.Pro1082=) c.3345C>G (p.Pro1115=) c.3321C>G (p.Pro1107=) c.3156C>G (p.Pro1052=) c.3515C>G (p.Pro1172Arg) c.3491C>G (p.Pro1164Arg) c.3488C>G (p.Pro1163Arg) c.3416C>G (p.Pro1139Arg) c.3401C>G (p.Pro1134Arg) c.3326C>G (p.Pro1109Arg) | |
1 | g.16986231G= | CA1156049251 | ATP13A2 | c.3533C= (p.Pro1178=) c.3231C= (p.Pro1077=) c.3518C= (p.Pro1173=) n.1579C= c.951C= (p.Pro317=) c.3363C= (p.Pro1121=) c.3360C= (p.Pro1120=) c.3348C= (p.Pro1116=) c.3336C= (p.Pro1112=) c.3303C= (p.Pro1101=) c.3246C= (p.Pro1082=) c.3345C= (p.Pro1115=) c.3321C= (p.Pro1107=) c.3156C= (p.Pro1052=) c.3515C= (p.Pro1172=) c.3491C= (p.Pro1164=) c.3488C= (p.Pro1163=) c.3416C= (p.Pro1139=) c.3401C= (p.Pro1134=) c.3326C= (p.Pro1109=) | |
1 | g.16986231G>T | CA338231920 | ATP13A2 | c.3533C>A (p.Pro1178His) c.3231C>A (p.Pro1077=) c.3518C>A (p.Pro1173His) n.1579C>A c.951C>A (p.Pro317=) c.3363C>A (p.Pro1121=) c.3360C>A (p.Pro1120=) c.3348C>A (p.Pro1116=) c.3336C>A (p.Pro1112=) c.3303C>A (p.Pro1101=) c.3246C>A (p.Pro1082=) c.3345C>A (p.Pro1115=) c.3321C>A (p.Pro1107=) c.3156C>A (p.Pro1052=) c.3515C>A (p.Pro1172His) c.3491C>A (p.Pro1164His) c.3488C>A (p.Pro1163His) c.3416C>A (p.Pro1139His) c.3401C>A (p.Pro1134His) c.3326C>A (p.Pro1109His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986235_16986242del | CA2643668255 | ATP13A2 | c.3526_3533del (p.Ala1176ProfsTer?) c.3224_3231del (p.Arg1075ProfsTer2) c.3511_3518del (p.Ala1171ProfsTer?) n.1572_1579del c.944_951del (p.Arg315ProfsTer2) c.3356_3363del (p.Arg1119ProfsTer2) c.3353_3360del (p.Arg1118ProfsTer2) c.3341_3348del (p.Arg1114ProfsTer2) c.3329_3336del (p.Arg1110ProfsTer2) c.3296_3303del (p.Arg1099ProfsTer2) c.3239_3246del (p.Arg1080ProfsTer2) c.3338_3345del (p.Arg1113ProfsTer2) c.3314_3321del (p.Arg1105ProfsTer2) c.3149_3156del (p.Arg1050ProfsTer2) c.3508_3515del (p.Ala1170ProfsTer?) c.3484_3491del (p.Ala1162ProfsTer?) c.3481_3488del (p.Ala1161ProfsTer?) c.3409_3416del (p.Ala1137ProfsTer?) c.3394_3401del (p.Ala1132ProfsTer?) c.3319_3326del (p.Ala1107ProfsTer?) | gnomAD v4 |
1 | g.16986232G>A | CA338231921 | ATP13A2 | c.3532C>T (p.Pro1178Ser) c.3230C>T (p.Pro1077Leu) c.3517C>T (p.Pro1173Ser) n.1578C>T c.950C>T (p.Pro317Leu) c.3362C>T (p.Pro1121Leu) c.3359C>T (p.Pro1120Leu) c.3347C>T (p.Pro1116Leu) c.3335C>T (p.Pro1112Leu) c.3302C>T (p.Pro1101Leu) c.3245C>T (p.Pro1082Leu) c.3344C>T (p.Pro1115Leu) c.3320C>T (p.Pro1107Leu) c.3155C>T (p.Pro1052Leu) c.3514C>T (p.Pro1172Ser) c.3490C>T (p.Pro1164Ser) c.3487C>T (p.Pro1163Ser) c.3415C>T (p.Pro1139Ser) c.3400C>T (p.Pro1134Ser) c.3325C>T (p.Pro1109Ser) | |
1 | g.16986232G>C | CA338231924 | ATP13A2 | c.3532C>G (p.Pro1178Ala) c.3230C>G (p.Pro1077Arg) c.3517C>G (p.Pro1173Ala) n.1578C>G c.950C>G (p.Pro317Arg) c.3362C>G (p.Pro1121Arg) c.3359C>G (p.Pro1120Arg) c.3347C>G (p.Pro1116Arg) c.3335C>G (p.Pro1112Arg) c.3302C>G (p.Pro1101Arg) c.3245C>G (p.Pro1082Arg) c.3344C>G (p.Pro1115Arg) c.3320C>G (p.Pro1107Arg) c.3155C>G (p.Pro1052Arg) c.3514C>G (p.Pro1172Ala) c.3490C>G (p.Pro1164Ala) c.3487C>G (p.Pro1163Ala) c.3415C>G (p.Pro1139Ala) c.3400C>G (p.Pro1134Ala) c.3325C>G (p.Pro1109Ala) | |
1 | g.16986232G>T | CA338231929 | ATP13A2 | c.3532C>A (p.Pro1178Thr) c.3230C>A (p.Pro1077His) c.3517C>A (p.Pro1173Thr) n.1578C>A c.950C>A (p.Pro317His) c.3362C>A (p.Pro1121His) c.3359C>A (p.Pro1120His) c.3347C>A (p.Pro1116His) c.3335C>A (p.Pro1112His) c.3302C>A (p.Pro1101His) c.3245C>A (p.Pro1082His) c.3344C>A (p.Pro1115His) c.3320C>A (p.Pro1107His) c.3155C>A (p.Pro1052His) c.3514C>A (p.Pro1172Thr) c.3490C>A (p.Pro1164Thr) c.3487C>A (p.Pro1163Thr) c.3415C>A (p.Pro1139Thr) c.3400C>A (p.Pro1134Thr) c.3325C>A (p.Pro1109Thr) | gnomAD v4 |
1 | g.16986233G>A | CA338231931 | ATP13A2 | c.3531C>T (p.Gly1177=) c.3229C>T (p.Pro1077Ser) c.3516C>T (p.Gly1172=) n.1577C>T c.949C>T (p.Pro317Ser) c.3361C>T (p.Pro1121Ser) c.3358C>T (p.Pro1120Ser) c.3346C>T (p.Pro1116Ser) c.3334C>T (p.Pro1112Ser) c.3301C>T (p.Pro1101Ser) c.3244C>T (p.Pro1082Ser) c.3343C>T (p.Pro1115Ser) c.3319C>T (p.Pro1107Ser) c.3154C>T (p.Pro1052Ser) c.3513C>T (p.Gly1171=) c.3489C>T (p.Gly1163=) c.3486C>T (p.Gly1162=) c.3414C>T (p.Gly1138=) c.3399C>T (p.Gly1133=) c.3324C>T (p.Gly1108=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986233G>C | CA338231938 | ATP13A2 | c.3531C>G (p.Gly1177=) c.3229C>G (p.Pro1077Ala) c.3516C>G (p.Gly1172=) n.1577C>G c.949C>G (p.Pro317Ala) c.3361C>G (p.Pro1121Ala) c.3358C>G (p.Pro1120Ala) c.3346C>G (p.Pro1116Ala) c.3334C>G (p.Pro1112Ala) c.3301C>G (p.Pro1101Ala) c.3244C>G (p.Pro1082Ala) c.3343C>G (p.Pro1115Ala) c.3319C>G (p.Pro1107Ala) c.3154C>G (p.Pro1052Ala) c.3513C>G (p.Gly1171=) c.3489C>G (p.Gly1163=) c.3486C>G (p.Gly1162=) c.3414C>G (p.Gly1138=) c.3399C>G (p.Gly1133=) c.3324C>G (p.Gly1108=) | gnomAD v4 |
1 | g.16986233G= | CA1156049256 | ATP13A2 | c.3531C= (p.Gly1177=) c.3229C= (p.Pro1077=) c.3516C= (p.Gly1172=) n.1577C= c.949C= (p.Pro317=) c.3361C= (p.Pro1121=) c.3358C= (p.Pro1120=) c.3346C= (p.Pro1116=) c.3334C= (p.Pro1112=) c.3301C= (p.Pro1101=) c.3244C= (p.Pro1082=) c.3343C= (p.Pro1115=) c.3319C= (p.Pro1107=) c.3154C= (p.Pro1052=) c.3513C= (p.Gly1171=) c.3489C= (p.Gly1163=) c.3486C= (p.Gly1162=) c.3414C= (p.Gly1138=) c.3399C= (p.Gly1133=) c.3324C= (p.Gly1108=) | |
1 | g.16986233G>T | CA338231944 | ATP13A2 | c.3531C>A (p.Gly1177=) c.3229C>A (p.Pro1077Thr) c.3516C>A (p.Gly1172=) n.1577C>A c.949C>A (p.Pro317Thr) c.3361C>A (p.Pro1121Thr) c.3358C>A (p.Pro1120Thr) c.3346C>A (p.Pro1116Thr) c.3334C>A (p.Pro1112Thr) c.3301C>A (p.Pro1101Thr) c.3244C>A (p.Pro1082Thr) c.3343C>A (p.Pro1115Thr) c.3319C>A (p.Pro1107Thr) c.3154C>A (p.Pro1052Thr) c.3513C>A (p.Gly1171=) c.3489C>A (p.Gly1163=) c.3486C>A (p.Gly1162=) c.3414C>A (p.Gly1138=) c.3399C>A (p.Gly1133=) c.3324C>A (p.Gly1108=) | dbSNP gnomAD v4 |
1 | g.16986234C>A | CA338231948 | ATP13A2 | c.3530G>T (p.Gly1177Val) c.3228G>T (p.Arg1076=) c.3515G>T (p.Gly1172Val) n.1576G>T c.948G>T (p.Arg316=) c.3360G>T (p.Arg1120=) c.3357G>T (p.Arg1119=) c.3345G>T (p.Arg1115=) c.3333G>T (p.Arg1111=) c.3300G>T (p.Arg1100=) c.3243G>T (p.Arg1081=) c.3342G>T (p.Arg1114=) c.3318G>T (p.Arg1106=) c.3153G>T (p.Arg1051=) c.3512G>T (p.Gly1171Val) c.3488G>T (p.Gly1163Val) c.3485G>T (p.Gly1162Val) c.3413G>T (p.Gly1138Val) c.3398G>T (p.Gly1133Val) c.3323G>T (p.Gly1108Val) | dbSNP |
1 | g.16986234C= | CA1156049263 | ATP13A2 | c.3530G= (p.Gly1177=) c.3228G= (p.Arg1076=) c.3515G= (p.Gly1172=) n.1576G= c.948G= (p.Arg316=) c.3360G= (p.Arg1120=) c.3357G= (p.Arg1119=) c.3345G= (p.Arg1115=) c.3333G= (p.Arg1111=) c.3300G= (p.Arg1100=) c.3243G= (p.Arg1081=) c.3342G= (p.Arg1114=) c.3318G= (p.Arg1106=) c.3153G= (p.Arg1051=) c.3512G= (p.Gly1171=) c.3488G= (p.Gly1163=) c.3485G= (p.Gly1162=) c.3413G= (p.Gly1138=) c.3398G= (p.Gly1133=) c.3323G= (p.Gly1108=) | |
1 | g.16986234C>G | CA338231955 | ATP13A2 | c.3530G>C (p.Gly1177Ala) c.3228G>C (p.Arg1076=) c.3515G>C (p.Gly1172Ala) n.1576G>C c.948G>C (p.Arg316=) c.3360G>C (p.Arg1120=) c.3357G>C (p.Arg1119=) c.3345G>C (p.Arg1115=) c.3333G>C (p.Arg1111=) c.3300G>C (p.Arg1100=) c.3243G>C (p.Arg1081=) c.3342G>C (p.Arg1114=) c.3318G>C (p.Arg1106=) c.3153G>C (p.Arg1051=) c.3512G>C (p.Gly1171Ala) c.3488G>C (p.Gly1163Ala) c.3485G>C (p.Gly1162Ala) c.3413G>C (p.Gly1138Ala) c.3398G>C (p.Gly1133Ala) c.3323G>C (p.Gly1108Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986234C>T | CA338231958 | ATP13A2 | c.3530G>A (p.Gly1177Asp) c.3228G>A (p.Arg1076=) c.3515G>A (p.Gly1172Asp) n.1576G>A c.948G>A (p.Arg316=) c.3360G>A (p.Arg1120=) c.3357G>A (p.Arg1119=) c.3345G>A (p.Arg1115=) c.3333G>A (p.Arg1111=) c.3300G>A (p.Arg1100=) c.3243G>A (p.Arg1081=) c.3342G>A (p.Arg1114=) c.3318G>A (p.Arg1106=) c.3153G>A (p.Arg1051=) c.3512G>A (p.Gly1171Asp) c.3488G>A (p.Gly1163Asp) c.3485G>A (p.Gly1162Asp) c.3413G>A (p.Gly1138Asp) c.3398G>A (p.Gly1133Asp) c.3323G>A (p.Gly1108Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986235C>A | CA338231970 | ATP13A2 | c.3529G>T (p.Gly1177Cys) c.3227G>T (p.Arg1076Leu) c.3514G>T (p.Gly1172Cys) n.1575G>T c.947G>T (p.Arg316Leu) c.3359G>T (p.Arg1120Leu) c.3356G>T (p.Arg1119Leu) c.3344G>T (p.Arg1115Leu) c.3332G>T (p.Arg1111Leu) c.3299G>T (p.Arg1100Leu) c.3242G>T (p.Arg1081Leu) c.3341G>T (p.Arg1114Leu) c.3317G>T (p.Arg1106Leu) c.3152G>T (p.Arg1051Leu) c.3511G>T (p.Gly1171Cys) c.3487G>T (p.Gly1163Cys) c.3484G>T (p.Gly1162Cys) c.3412G>T (p.Gly1138Cys) c.3397G>T (p.Gly1133Cys) c.3322G>T (p.Gly1108Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986235C= | CA1145805579 | ATP13A2 | c.3529G= (p.Gly1177=) c.3227G= (p.Arg1076=) c.3514G= (p.Gly1172=) n.1575G= c.947G= (p.Arg316=) c.3359G= (p.Arg1120=) c.3356G= (p.Arg1119=) c.3344G= (p.Arg1115=) c.3332G= (p.Arg1111=) c.3299G= (p.Arg1100=) c.3242G= (p.Arg1081=) c.3341G= (p.Arg1114=) c.3317G= (p.Arg1106=) c.3152G= (p.Arg1051=) c.3511G= (p.Gly1171=) c.3487G= (p.Gly1163=) c.3484G= (p.Gly1162=) c.3412G= (p.Gly1138=) c.3397G= (p.Gly1133=) c.3322G= (p.Gly1108=) | |
1 | g.16986235C>G | CA338231966 | ATP13A2 | c.3529G>C (p.Gly1177Arg) c.3227G>C (p.Arg1076Pro) c.3514G>C (p.Gly1172Arg) n.1575G>C c.947G>C (p.Arg316Pro) c.3359G>C (p.Arg1120Pro) c.3356G>C (p.Arg1119Pro) c.3344G>C (p.Arg1115Pro) c.3332G>C (p.Arg1111Pro) c.3299G>C (p.Arg1100Pro) c.3242G>C (p.Arg1081Pro) c.3341G>C (p.Arg1114Pro) c.3317G>C (p.Arg1106Pro) c.3152G>C (p.Arg1051Pro) c.3511G>C (p.Gly1171Arg) c.3487G>C (p.Gly1163Arg) c.3484G>C (p.Gly1162Arg) c.3412G>C (p.Gly1138Arg) c.3397G>C (p.Gly1133Arg) c.3322G>C (p.Gly1108Arg) | |
1 | g.16986235C>T | CA636456 | ATP13A2 | c.3529G>A (p.Gly1177Ser) c.3227G>A (p.Arg1076Gln) c.3514G>A (p.Gly1172Ser) n.1575G>A c.947G>A (p.Arg316Gln) c.3359G>A (p.Arg1120Gln) c.3356G>A (p.Arg1119Gln) c.3344G>A (p.Arg1115Gln) c.3332G>A (p.Arg1111Gln) c.3299G>A (p.Arg1100Gln) c.3242G>A (p.Arg1081Gln) c.3341G>A (p.Arg1114Gln) c.3317G>A (p.Arg1106Gln) c.3152G>A (p.Arg1051Gln) c.3511G>A (p.Gly1171Ser) c.3487G>A (p.Gly1163Ser) c.3484G>A (p.Gly1162Ser) c.3412G>A (p.Gly1138Ser) c.3397G>A (p.Gly1133Ser) c.3322G>A (p.Gly1108Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16986241_16986250dup | CA2643668286 | ATP13A2 | c.3520_3529dup (p.Gly1177AlafsTer?) c.3218_3227dup (p.Pro1077CysfsTer6) c.3505_3514dup (p.Gly1172AlafsTer?) n.1566_1575dup c.938_947dup (p.Pro317CysfsTer6) c.3350_3359dup (p.Pro1121CysfsTer6) c.3347_3356dup (p.Pro1120CysfsTer6) c.3335_3344dup (p.Pro1116CysfsTer6) c.3323_3332dup (p.Pro1112CysfsTer6) c.3290_3299dup (p.Pro1101CysfsTer6) c.3233_3242dup (p.Pro1082CysfsTer6) c.3332_3341dup (p.Pro1115CysfsTer6) c.3308_3317dup (p.Pro1107CysfsTer6) c.3143_3152dup (p.Pro1052CysfsTer6) c.3502_3511dup (p.Gly1171AlafsTer?) c.3478_3487dup (p.Gly1163AlafsTer?) c.3475_3484dup (p.Gly1162AlafsTer?) c.3403_3412dup (p.Gly1138AlafsTer?) c.3388_3397dup (p.Gly1133AlafsTer?) c.3313_3322dup (p.Gly1108AlafsTer?) | gnomAD v4 |
1 | g.16986236G>A | CA636457 | ATP13A2 | c.3528C>T (p.Ala1176=) c.3226C>T (p.Arg1076Trp) c.3513C>T (p.Ala1171=) n.1574C>T c.946C>T (p.Arg316Trp) c.3358C>T (p.Arg1120Trp) c.3355C>T (p.Arg1119Trp) c.3343C>T (p.Arg1115Trp) c.3331C>T (p.Arg1111Trp) c.3298C>T (p.Arg1100Trp) c.3241C>T (p.Arg1081Trp) c.3340C>T (p.Arg1114Trp) c.3316C>T (p.Arg1106Trp) c.3151C>T (p.Arg1051Trp) c.3510C>T (p.Ala1170=) c.3486C>T (p.Ala1162=) c.3483C>T (p.Ala1161=) c.3411C>T (p.Ala1137=) c.3396C>T (p.Ala1132=) c.3321C>T (p.Ala1107=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986236G>C | CA636458 | ATP13A2 | c.3528C>G (p.Ala1176=) c.3226C>G (p.Arg1076Gly) c.3513C>G (p.Ala1171=) n.1574C>G c.946C>G (p.Arg316Gly) c.3358C>G (p.Arg1120Gly) c.3355C>G (p.Arg1119Gly) c.3343C>G (p.Arg1115Gly) c.3331C>G (p.Arg1111Gly) c.3298C>G (p.Arg1100Gly) c.3241C>G (p.Arg1081Gly) c.3340C>G (p.Arg1114Gly) c.3316C>G (p.Arg1106Gly) c.3151C>G (p.Arg1051Gly) c.3510C>G (p.Ala1170=) c.3486C>G (p.Ala1162=) c.3483C>G (p.Ala1161=) c.3411C>G (p.Ala1137=) c.3396C>G (p.Ala1132=) c.3321C>G (p.Ala1107=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16986236G= | CA1156049282 | ATP13A2 | c.3528C= (p.Ala1176=) c.3226C= (p.Arg1076=) c.3513C= (p.Ala1171=) n.1574C= c.946C= (p.Arg316=) c.3358C= (p.Arg1120=) c.3355C= (p.Arg1119=) c.3343C= (p.Arg1115=) c.3331C= (p.Arg1111=) c.3298C= (p.Arg1100=) c.3241C= (p.Arg1081=) c.3340C= (p.Arg1114=) c.3316C= (p.Arg1106=) c.3151C= (p.Arg1051=) c.3510C= (p.Ala1170=) c.3486C= (p.Ala1162=) c.3483C= (p.Ala1161=) c.3411C= (p.Ala1137=) c.3396C= (p.Ala1132=) c.3321C= (p.Ala1107=) | |
1 | g.16986236G>T | CA416093451 | ATP13A2 | c.3528C>A (p.Ala1176=) c.3226C>A (p.Arg1076=) c.3513C>A (p.Ala1171=) n.1574C>A c.946C>A (p.Arg316=) c.3358C>A (p.Arg1120=) c.3355C>A (p.Arg1119=) c.3343C>A (p.Arg1115=) c.3331C>A (p.Arg1111=) c.3298C>A (p.Arg1100=) c.3241C>A (p.Arg1081=) c.3340C>A (p.Arg1114=) c.3316C>A (p.Arg1106=) c.3151C>A (p.Arg1051=) c.3510C>A (p.Ala1170=) c.3486C>A (p.Ala1162=) c.3483C>A (p.Ala1161=) c.3411C>A (p.Ala1137=) c.3396C>A (p.Ala1132=) c.3321C>A (p.Ala1107=) | gnomAD v4 |
1 | g.16986237G>A | CA338231973 | ATP13A2 | c.3527C>T (p.Ala1176Val) c.3225C>T (p.Arg1075=) c.3512C>T (p.Ala1171Val) n.1573C>T c.945C>T (p.Arg315=) c.3357C>T (p.Arg1119=) c.3354C>T (p.Arg1118=) c.3342C>T (p.Arg1114=) c.3330C>T (p.Arg1110=) c.3297C>T (p.Arg1099=) c.3240C>T (p.Arg1080=) c.3339C>T (p.Arg1113=) c.3315C>T (p.Arg1105=) c.3150C>T (p.Arg1050=) c.3509C>T (p.Ala1170Val) c.3485C>T (p.Ala1162Val) c.3482C>T (p.Ala1161Val) c.3410C>T (p.Ala1137Val) c.3395C>T (p.Ala1132Val) c.3320C>T (p.Ala1107Val) | |
1 | g.16986237G>C | CA338231974 | ATP13A2 | c.3527C>G (p.Ala1176Gly) c.3225C>G (p.Arg1075=) c.3512C>G (p.Ala1171Gly) n.1573C>G c.945C>G (p.Arg315=) c.3357C>G (p.Arg1119=) c.3354C>G (p.Arg1118=) c.3342C>G (p.Arg1114=) c.3330C>G (p.Arg1110=) c.3297C>G (p.Arg1099=) c.3240C>G (p.Arg1080=) c.3339C>G (p.Arg1113=) c.3315C>G (p.Arg1105=) c.3150C>G (p.Arg1050=) c.3509C>G (p.Ala1170Gly) c.3485C>G (p.Ala1162Gly) c.3482C>G (p.Ala1161Gly) c.3410C>G (p.Ala1137Gly) c.3395C>G (p.Ala1132Gly) c.3320C>G (p.Ala1107Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986237G= | CA1156049290 | ATP13A2 | c.3527C= (p.Ala1176=) c.3225C= (p.Arg1075=) c.3512C= (p.Ala1171=) n.1573C= c.945C= (p.Arg315=) c.3357C= (p.Arg1119=) c.3354C= (p.Arg1118=) c.3342C= (p.Arg1114=) c.3330C= (p.Arg1110=) c.3297C= (p.Arg1099=) c.3240C= (p.Arg1080=) c.3339C= (p.Arg1113=) c.3315C= (p.Arg1105=) c.3150C= (p.Arg1050=) c.3509C= (p.Ala1170=) c.3485C= (p.Ala1162=) c.3482C= (p.Ala1161=) c.3410C= (p.Ala1137=) c.3395C= (p.Ala1132=) c.3320C= (p.Ala1107=) | |
1 | g.16986237G>T | CA338231975 | ATP13A2 | c.3527C>A (p.Ala1176Asp) c.3225C>A (p.Arg1075=) c.3512C>A (p.Ala1171Asp) n.1573C>A c.945C>A (p.Arg315=) c.3357C>A (p.Arg1119=) c.3354C>A (p.Arg1118=) c.3342C>A (p.Arg1114=) c.3330C>A (p.Arg1110=) c.3297C>A (p.Arg1099=) c.3240C>A (p.Arg1080=) c.3339C>A (p.Arg1113=) c.3315C>A (p.Arg1105=) c.3150C>A (p.Arg1050=) c.3509C>A (p.Ala1170Asp) c.3485C>A (p.Ala1162Asp) c.3482C>A (p.Ala1161Asp) c.3410C>A (p.Ala1137Asp) c.3395C>A (p.Ala1132Asp) c.3320C>A (p.Ala1107Asp) | |
1 | g.16986238C>A | CA338231976 | ATP13A2 | c.3526G>T (p.Ala1176Ser) c.3224G>T (p.Arg1075Leu) c.3511G>T (p.Ala1171Ser) n.1572G>T c.944G>T (p.Arg315Leu) c.3356G>T (p.Arg1119Leu) c.3353G>T (p.Arg1118Leu) c.3341G>T (p.Arg1114Leu) c.3329G>T (p.Arg1110Leu) c.3296G>T (p.Arg1099Leu) c.3239G>T (p.Arg1080Leu) c.3338G>T (p.Arg1113Leu) c.3314G>T (p.Arg1105Leu) c.3149G>T (p.Arg1050Leu) c.3508G>T (p.Ala1170Ser) c.3484G>T (p.Ala1162Ser) c.3481G>T (p.Ala1161Ser) c.3409G>T (p.Ala1137Ser) c.3394G>T (p.Ala1132Ser) c.3319G>T (p.Ala1107Ser) | |
1 | g.16986238C= | CA1156049295 | ATP13A2 | c.3526G= (p.Ala1176=) c.3224G= (p.Arg1075=) c.3511G= (p.Ala1171=) n.1572G= c.944G= (p.Arg315=) c.3356G= (p.Arg1119=) c.3353G= (p.Arg1118=) c.3341G= (p.Arg1114=) c.3329G= (p.Arg1110=) c.3296G= (p.Arg1099=) c.3239G= (p.Arg1080=) c.3338G= (p.Arg1113=) c.3314G= (p.Arg1105=) c.3149G= (p.Arg1050=) c.3508G= (p.Ala1170=) c.3484G= (p.Ala1162=) c.3481G= (p.Ala1161=) c.3409G= (p.Ala1137=) c.3394G= (p.Ala1132=) c.3319G= (p.Ala1107=) | |
1 | g.16986238C>G | CA338231977 | ATP13A2 | c.3526G>C (p.Ala1176Pro) c.3224G>C (p.Arg1075Pro) c.3511G>C (p.Ala1171Pro) n.1572G>C c.944G>C (p.Arg315Pro) c.3356G>C (p.Arg1119Pro) c.3353G>C (p.Arg1118Pro) c.3341G>C (p.Arg1114Pro) c.3329G>C (p.Arg1110Pro) c.3296G>C (p.Arg1099Pro) c.3239G>C (p.Arg1080Pro) c.3338G>C (p.Arg1113Pro) c.3314G>C (p.Arg1105Pro) c.3149G>C (p.Arg1050Pro) c.3508G>C (p.Ala1170Pro) c.3484G>C (p.Ala1162Pro) c.3481G>C (p.Ala1161Pro) c.3409G>C (p.Ala1137Pro) c.3394G>C (p.Ala1132Pro) c.3319G>C (p.Ala1107Pro) | gnomAD v4 |
1 | g.16986238C>T | CA338231980 | ATP13A2 | c.3526G>A (p.Ala1176Thr) c.3224G>A (p.Arg1075His) c.3511G>A (p.Ala1171Thr) n.1572G>A c.944G>A (p.Arg315His) c.3356G>A (p.Arg1119His) c.3353G>A (p.Arg1118His) c.3341G>A (p.Arg1114His) c.3329G>A (p.Arg1110His) c.3296G>A (p.Arg1099His) c.3239G>A (p.Arg1080His) c.3338G>A (p.Arg1113His) c.3314G>A (p.Arg1105His) c.3149G>A (p.Arg1050His) c.3508G>A (p.Ala1170Thr) c.3484G>A (p.Ala1162Thr) c.3481G>A (p.Ala1161Thr) c.3409G>A (p.Ala1137Thr) c.3394G>A (p.Ala1132Thr) c.3319G>A (p.Ala1107Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.16986239G>A | CA636459 | ATP13A2 | c.3525C>T (p.Pro1175=) c.3223C>T (p.Arg1075Cys) c.3510C>T (p.Pro1170=) n.1571C>T c.943C>T (p.Arg315Cys) c.3355C>T (p.Arg1119Cys) c.3352C>T (p.Arg1118Cys) c.3340C>T (p.Arg1114Cys) c.3328C>T (p.Arg1110Cys) c.3295C>T (p.Arg1099Cys) c.3238C>T (p.Arg1080Cys) c.3337C>T (p.Arg1113Cys) c.3313C>T (p.Arg1105Cys) c.3148C>T (p.Arg1050Cys) c.3507C>T (p.Pro1169=) c.3483C>T (p.Pro1161=) c.3480C>T (p.Pro1160=) c.3408C>T (p.Pro1136=) c.3393C>T (p.Pro1131=) c.3318C>T (p.Pro1106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986239G>C | CA338231987 | ATP13A2 | c.3525C>G (p.Pro1175=) c.3223C>G (p.Arg1075Gly) c.3510C>G (p.Pro1170=) n.1571C>G c.943C>G (p.Arg315Gly) c.3355C>G (p.Arg1119Gly) c.3352C>G (p.Arg1118Gly) c.3340C>G (p.Arg1114Gly) c.3328C>G (p.Arg1110Gly) c.3295C>G (p.Arg1099Gly) c.3238C>G (p.Arg1080Gly) c.3337C>G (p.Arg1113Gly) c.3313C>G (p.Arg1105Gly) c.3148C>G (p.Arg1050Gly) c.3507C>G (p.Pro1169=) c.3483C>G (p.Pro1161=) c.3480C>G (p.Pro1160=) c.3408C>G (p.Pro1136=) c.3393C>G (p.Pro1131=) c.3318C>G (p.Pro1106=) | gnomAD v4 |
1 | g.16986239G= | CA1156049300 | ATP13A2 | c.3525C= (p.Pro1175=) c.3223C= (p.Arg1075=) c.3510C= (p.Pro1170=) n.1571C= c.943C= (p.Arg315=) c.3355C= (p.Arg1119=) c.3352C= (p.Arg1118=) c.3340C= (p.Arg1114=) c.3328C= (p.Arg1110=) c.3295C= (p.Arg1099=) c.3238C= (p.Arg1080=) c.3337C= (p.Arg1113=) c.3313C= (p.Arg1105=) c.3148C= (p.Arg1050=) c.3507C= (p.Pro1169=) c.3483C= (p.Pro1161=) c.3480C= (p.Pro1160=) c.3408C= (p.Pro1136=) c.3393C= (p.Pro1131=) c.3318C= (p.Pro1106=) | |
1 | g.16986239G>T | CA338231990 | ATP13A2 | c.3525C>A (p.Pro1175=) c.3223C>A (p.Arg1075Ser) c.3510C>A (p.Pro1170=) n.1571C>A c.943C>A (p.Arg315Ser) c.3355C>A (p.Arg1119Ser) c.3352C>A (p.Arg1118Ser) c.3340C>A (p.Arg1114Ser) c.3328C>A (p.Arg1110Ser) c.3295C>A (p.Arg1099Ser) c.3238C>A (p.Arg1080Ser) c.3337C>A (p.Arg1113Ser) c.3313C>A (p.Arg1105Ser) c.3148C>A (p.Arg1050Ser) c.3507C>A (p.Pro1169=) c.3483C>A (p.Pro1161=) c.3480C>A (p.Pro1160=) c.3408C>A (p.Pro1136=) c.3393C>A (p.Pro1131=) c.3318C>A (p.Pro1106=) | |
1 | g.16986240_16986241insAAGG | CA2643668319 | ATP13A2 | c.3525_3526insTTCC (p.Ala1176PhefsTer?) c.3223_3224insTTCC (p.Arg1075LeufsTer6) c.3510_3511insTTCC (p.Ala1171PhefsTer?) n.1571_1572insTTCC c.943_944insTTCC (p.Arg315LeufsTer6) c.3355_3356insTTCC (p.Arg1119LeufsTer6) c.3352_3353insTTCC (p.Arg1118LeufsTer6) c.3340_3341insTTCC (p.Arg1114LeufsTer6) c.3328_3329insTTCC (p.Arg1110LeufsTer6) c.3295_3296insTTCC (p.Arg1099LeufsTer6) c.3238_3239insTTCC (p.Arg1080LeufsTer6) c.3337_3338insTTCC (p.Arg1113LeufsTer6) c.3313_3314insTTCC (p.Arg1105LeufsTer6) c.3148_3149insTTCC (p.Arg1050LeufsTer6) c.3507_3508insTTCC (p.Ala1170PhefsTer?) c.3483_3484insTTCC (p.Ala1162PhefsTer?) c.3480_3481insTTCC (p.Ala1161PhefsTer?) c.3408_3409insTTCC (p.Ala1137PhefsTer?) c.3393_3394insTTCC (p.Ala1132PhefsTer?) c.3318_3319insTTCC (p.Ala1107PhefsTer?) | gnomAD v4 |
1 | g.16986240G>A | CA338231995 | ATP13A2 | c.3524C>T (p.Pro1175Leu) c.3222C>T (p.Ala1074=) c.3509C>T (p.Pro1170Leu) n.1570C>T c.942C>T (p.Ala314=) c.3354C>T (p.Ala1118=) c.3351C>T (p.Ala1117=) c.3339C>T (p.Ala1113=) c.3327C>T (p.Ala1109=) c.3294C>T (p.Ala1098=) c.3237C>T (p.Ala1079=) c.3336C>T (p.Ala1112=) c.3312C>T (p.Ala1104=) c.3147C>T (p.Ala1049=) c.3506C>T (p.Pro1169Leu) c.3482C>T (p.Pro1161Leu) c.3479C>T (p.Pro1160Leu) c.3407C>T (p.Pro1136Leu) c.3392C>T (p.Pro1131Leu) c.3317C>T (p.Pro1106Leu) | |
1 | g.16986240G>C | CA338231994 | ATP13A2 | c.3524C>G (p.Pro1175Arg) c.3222C>G (p.Ala1074=) c.3509C>G (p.Pro1170Arg) n.1570C>G c.942C>G (p.Ala314=) c.3354C>G (p.Ala1118=) c.3351C>G (p.Ala1117=) c.3339C>G (p.Ala1113=) c.3327C>G (p.Ala1109=) c.3294C>G (p.Ala1098=) c.3237C>G (p.Ala1079=) c.3336C>G (p.Ala1112=) c.3312C>G (p.Ala1104=) c.3147C>G (p.Ala1049=) c.3506C>G (p.Pro1169Arg) c.3482C>G (p.Pro1161Arg) c.3479C>G (p.Pro1160Arg) c.3407C>G (p.Pro1136Arg) c.3392C>G (p.Pro1131Arg) c.3317C>G (p.Pro1106Arg) | |
1 | g.16986240G= | CA1156049306 | ATP13A2 | c.3524C= (p.Pro1175=) c.3222C= (p.Ala1074=) c.3509C= (p.Pro1170=) n.1570C= c.942C= (p.Ala314=) c.3354C= (p.Ala1118=) c.3351C= (p.Ala1117=) c.3339C= (p.Ala1113=) c.3327C= (p.Ala1109=) c.3294C= (p.Ala1098=) c.3237C= (p.Ala1079=) c.3336C= (p.Ala1112=) c.3312C= (p.Ala1104=) c.3147C= (p.Ala1049=) c.3506C= (p.Pro1169=) c.3482C= (p.Pro1161=) c.3479C= (p.Pro1160=) c.3407C= (p.Pro1136=) c.3392C= (p.Pro1131=) c.3317C= (p.Pro1106=) | |
1 | g.16986240G>T | CA636460 | ATP13A2 | c.3524C>A (p.Pro1175His) c.3222C>A (p.Ala1074=) c.3509C>A (p.Pro1170His) n.1570C>A c.942C>A (p.Ala314=) c.3354C>A (p.Ala1118=) c.3351C>A (p.Ala1117=) c.3339C>A (p.Ala1113=) c.3327C>A (p.Ala1109=) c.3294C>A (p.Ala1098=) c.3237C>A (p.Ala1079=) c.3336C>A (p.Ala1112=) c.3312C>A (p.Ala1104=) c.3147C>A (p.Ala1049=) c.3506C>A (p.Pro1169His) c.3482C>A (p.Pro1161His) c.3479C>A (p.Pro1160His) c.3407C>A (p.Pro1136His) c.3392C>A (p.Pro1131His) c.3317C>A (p.Pro1106His) | dbSNP ExAC gnomAD v4 |
1 | g.16986241G>A | CA338231996 | ATP13A2 | c.3523C>T (p.Pro1175Ser) c.3221C>T (p.Ala1074Val) c.3508C>T (p.Pro1170Ser) n.1569C>T c.941C>T (p.Ala314Val) c.3353C>T (p.Ala1118Val) c.3350C>T (p.Ala1117Val) c.3338C>T (p.Ala1113Val) c.3326C>T (p.Ala1109Val) c.3293C>T (p.Ala1098Val) c.3236C>T (p.Ala1079Val) c.3335C>T (p.Ala1112Val) c.3311C>T (p.Ala1104Val) c.3146C>T (p.Ala1049Val) c.3505C>T (p.Pro1169Ser) c.3481C>T (p.Pro1161Ser) c.3478C>T (p.Pro1160Ser) c.3406C>T (p.Pro1136Ser) c.3391C>T (p.Pro1131Ser) c.3316C>T (p.Pro1106Ser) | |
1 | g.16986241G>C | CA338231997 | ATP13A2 | c.3523C>G (p.Pro1175Ala) c.3221C>G (p.Ala1074Gly) c.3508C>G (p.Pro1170Ala) n.1569C>G c.941C>G (p.Ala314Gly) c.3353C>G (p.Ala1118Gly) c.3350C>G (p.Ala1117Gly) c.3338C>G (p.Ala1113Gly) c.3326C>G (p.Ala1109Gly) c.3293C>G (p.Ala1098Gly) c.3236C>G (p.Ala1079Gly) c.3335C>G (p.Ala1112Gly) c.3311C>G (p.Ala1104Gly) c.3146C>G (p.Ala1049Gly) c.3505C>G (p.Pro1169Ala) c.3481C>G (p.Pro1161Ala) c.3478C>G (p.Pro1160Ala) c.3406C>G (p.Pro1136Ala) c.3391C>G (p.Pro1131Ala) c.3316C>G (p.Pro1106Ala) | |
1 | g.16986241G>T | CA338231998 | ATP13A2 | c.3523C>A (p.Pro1175Thr) c.3221C>A (p.Ala1074Asp) c.3508C>A (p.Pro1170Thr) n.1569C>A c.941C>A (p.Ala314Asp) c.3353C>A (p.Ala1118Asp) c.3350C>A (p.Ala1117Asp) c.3338C>A (p.Ala1113Asp) c.3326C>A (p.Ala1109Asp) c.3293C>A (p.Ala1098Asp) c.3236C>A (p.Ala1079Asp) c.3335C>A (p.Ala1112Asp) c.3311C>A (p.Ala1104Asp) c.3146C>A (p.Ala1049Asp) c.3505C>A (p.Pro1169Thr) c.3481C>A (p.Pro1161Thr) c.3478C>A (p.Pro1160Thr) c.3406C>A (p.Pro1136Thr) c.3391C>A (p.Pro1131Thr) c.3316C>A (p.Pro1106Thr) | gnomAD v4 |
1 | g.16986242C>A | CA338232002 | ATP13A2 | c.3522G>T (p.Leu1174=) c.3220G>T (p.Ala1074Ser) c.3507G>T (p.Leu1169=) n.1568G>T c.940G>T (p.Ala314Ser) c.3352G>T (p.Ala1118Ser) c.3349G>T (p.Ala1117Ser) c.3337G>T (p.Ala1113Ser) c.3325G>T (p.Ala1109Ser) c.3292G>T (p.Ala1098Ser) c.3235G>T (p.Ala1079Ser) c.3334G>T (p.Ala1112Ser) c.3310G>T (p.Ala1104Ser) c.3145G>T (p.Ala1049Ser) c.3504G>T (p.Leu1168=) c.3480G>T (p.Leu1160=) c.3477G>T (p.Leu1159=) c.3405G>T (p.Leu1135=) c.3390G>T (p.Leu1130=) c.3315G>T (p.Leu1105=) | gnomAD v4 |
1 | g.16986242C>G | CA338232004 | ATP13A2 | c.3522G>C (p.Leu1174=) c.3220G>C (p.Ala1074Pro) c.3507G>C (p.Leu1169=) n.1568G>C c.940G>C (p.Ala314Pro) c.3352G>C (p.Ala1118Pro) c.3349G>C (p.Ala1117Pro) c.3337G>C (p.Ala1113Pro) c.3325G>C (p.Ala1109Pro) c.3292G>C (p.Ala1098Pro) c.3235G>C (p.Ala1079Pro) c.3334G>C (p.Ala1112Pro) c.3310G>C (p.Ala1104Pro) c.3145G>C (p.Ala1049Pro) c.3504G>C (p.Leu1168=) c.3480G>C (p.Leu1160=) c.3477G>C (p.Leu1159=) c.3405G>C (p.Leu1135=) c.3390G>C (p.Leu1130=) c.3315G>C (p.Leu1105=) | |
1 | g.16986242C>T | CA338232007 | ATP13A2 | c.3522G>A (p.Leu1174=) c.3220G>A (p.Ala1074Thr) c.3507G>A (p.Leu1169=) n.1568G>A c.940G>A (p.Ala314Thr) c.3352G>A (p.Ala1118Thr) c.3349G>A (p.Ala1117Thr) c.3337G>A (p.Ala1113Thr) c.3325G>A (p.Ala1109Thr) c.3292G>A (p.Ala1098Thr) c.3235G>A (p.Ala1079Thr) c.3334G>A (p.Ala1112Thr) c.3310G>A (p.Ala1104Thr) c.3145G>A (p.Ala1049Thr) c.3504G>A (p.Leu1168=) c.3480G>A (p.Leu1160=) c.3477G>A (p.Leu1159=) c.3405G>A (p.Leu1135=) c.3390G>A (p.Leu1130=) c.3315G>A (p.Leu1105=) | gnomAD v4 |
1 | g.16986245_16986254dup | CA2643668396 | ATP13A2 | c.3513_3522dup (p.Pro1175AlafsTer?) c.3211_3220dup (p.Ala1074GlyfsTer9) c.3498_3507dup (p.Pro1170AlafsTer?) n.1559_1568dup c.931_940dup (p.Ala314GlyfsTer9) c.3343_3352dup (p.Ala1118GlyfsTer9) c.3340_3349dup (p.Ala1117GlyfsTer9) c.3328_3337dup (p.Ala1113GlyfsTer9) c.3316_3325dup (p.Ala1109GlyfsTer9) c.3283_3292dup (p.Ala1098GlyfsTer9) c.3226_3235dup (p.Ala1079GlyfsTer9) c.3325_3334dup (p.Ala1112GlyfsTer9) c.3301_3310dup (p.Ala1104GlyfsTer9) c.3136_3145dup (p.Ala1049GlyfsTer9) c.3495_3504dup (p.Pro1169AlafsTer?) c.3471_3480dup (p.Pro1161AlafsTer?) c.3468_3477dup (p.Pro1160AlafsTer?) c.3396_3405dup (p.Pro1136AlafsTer?) c.3381_3390dup (p.Pro1131AlafsTer?) c.3306_3315dup (p.Pro1106AlafsTer?) | gnomAD v4 |
1 | g.16986242_16986243insGCCCCCTTGG | CA2643668406 | ATP13A2 | c.3521_3522insCCAAGGGGGC (p.Pro1175GlnfsTer?) c.3219_3220insCCAAGGGGGC (p.Ala1074ProfsTer9) c.3506_3507insCCAAGGGGGC (p.Pro1170GlnfsTer?) n.1567_1568insCCAAGGGGGC c.939_940insCCAAGGGGGC (p.Ala314ProfsTer9) c.3351_3352insCCAAGGGGGC (p.Ala1118ProfsTer9) c.3348_3349insCCAAGGGGGC (p.Ala1117ProfsTer9) c.3336_3337insCCAAGGGGGC (p.Ala1113ProfsTer9) c.3324_3325insCCAAGGGGGC (p.Ala1109ProfsTer9) c.3291_3292insCCAAGGGGGC (p.Ala1098ProfsTer9) c.3234_3235insCCAAGGGGGC (p.Ala1079ProfsTer9) c.3333_3334insCCAAGGGGGC (p.Ala1112ProfsTer9) c.3309_3310insCCAAGGGGGC (p.Ala1104ProfsTer9) c.3144_3145insCCAAGGGGGC (p.Ala1049ProfsTer9) c.3503_3504insCCAAGGGGGC (p.Pro1169GlnfsTer?) c.3479_3480insCCAAGGGGGC (p.Pro1161GlnfsTer?) c.3476_3477insCCAAGGGGGC (p.Pro1160GlnfsTer?) c.3404_3405insCCAAGGGGGC (p.Pro1136GlnfsTer?) c.3389_3390insCCAAGGGGGC (p.Pro1131GlnfsTer?) c.3314_3315insCCAAGGGGGC (p.Pro1106GlnfsTer?) | gnomAD v4 |
1 | g.16986243A>C | CA338232009 | ATP13A2 | c.3521T>G (p.Leu1174Arg) c.3219T>G (p.Ala1073=) c.3506T>G (p.Leu1169Arg) n.1567T>G c.939T>G (p.Ala313=) c.3351T>G (p.Ala1117=) c.3348T>G (p.Ala1116=) c.3336T>G (p.Ala1112=) c.3324T>G (p.Ala1108=) c.3291T>G (p.Ala1097=) c.3234T>G (p.Ala1078=) c.3333T>G (p.Ala1111=) c.3309T>G (p.Ala1103=) c.3144T>G (p.Ala1048=) c.3503T>G (p.Leu1168Arg) c.3479T>G (p.Leu1160Arg) c.3476T>G (p.Leu1159Arg) c.3404T>G (p.Leu1135Arg) c.3389T>G (p.Leu1130Arg) c.3314T>G (p.Leu1105Arg) | |
1 | g.16986243A>G | CA338232010 | ATP13A2 | c.3521T>C (p.Leu1174Pro) c.3219T>C (p.Ala1073=) c.3506T>C (p.Leu1169Pro) n.1567T>C c.939T>C (p.Ala313=) c.3351T>C (p.Ala1117=) c.3348T>C (p.Ala1116=) c.3336T>C (p.Ala1112=) c.3324T>C (p.Ala1108=) c.3291T>C (p.Ala1097=) c.3234T>C (p.Ala1078=) c.3333T>C (p.Ala1111=) c.3309T>C (p.Ala1103=) c.3144T>C (p.Ala1048=) c.3503T>C (p.Leu1168Pro) c.3479T>C (p.Leu1160Pro) c.3476T>C (p.Leu1159Pro) c.3404T>C (p.Leu1135Pro) c.3389T>C (p.Leu1130Pro) c.3314T>C (p.Leu1105Pro) | |
1 | g.16986243A>T | CA338232011 | ATP13A2 | c.3521T>A (p.Leu1174Gln) c.3219T>A (p.Ala1073=) c.3506T>A (p.Leu1169Gln) n.1567T>A c.939T>A (p.Ala313=) c.3351T>A (p.Ala1117=) c.3348T>A (p.Ala1116=) c.3336T>A (p.Ala1112=) c.3324T>A (p.Ala1108=) c.3291T>A (p.Ala1097=) c.3234T>A (p.Ala1078=) c.3333T>A (p.Ala1111=) c.3309T>A (p.Ala1103=) c.3144T>A (p.Ala1048=) c.3503T>A (p.Leu1168Gln) c.3479T>A (p.Leu1160Gln) c.3476T>A (p.Leu1159Gln) c.3404T>A (p.Leu1135Gln) c.3389T>A (p.Leu1130Gln) c.3314T>A (p.Leu1105Gln) | |
1 | g.16986244G>A | CA338232012 | ATP13A2 | c.3520C>T (p.Leu1174=) c.3218C>T (p.Ala1073Val) c.3505C>T (p.Leu1169=) n.1566C>T c.938C>T (p.Ala313Val) c.3350C>T (p.Ala1117Val) c.3347C>T (p.Ala1116Val) c.3335C>T (p.Ala1112Val) c.3323C>T (p.Ala1108Val) c.3290C>T (p.Ala1097Val) c.3233C>T (p.Ala1078Val) c.3332C>T (p.Ala1111Val) c.3308C>T (p.Ala1103Val) c.3143C>T (p.Ala1048Val) c.3502C>T (p.Leu1168=) c.3478C>T (p.Leu1160=) c.3475C>T (p.Leu1159=) c.3403C>T (p.Leu1135=) c.3388C>T (p.Leu1130=) c.3313C>T (p.Leu1105=) | gnomAD v4 |
1 | g.16986244G>C | CA338232013 | ATP13A2 | c.3520C>G (p.Leu1174Val) c.3218C>G (p.Ala1073Gly) c.3505C>G (p.Leu1169Val) n.1566C>G c.938C>G (p.Ala313Gly) c.3350C>G (p.Ala1117Gly) c.3347C>G (p.Ala1116Gly) c.3335C>G (p.Ala1112Gly) c.3323C>G (p.Ala1108Gly) c.3290C>G (p.Ala1097Gly) c.3233C>G (p.Ala1078Gly) c.3332C>G (p.Ala1111Gly) c.3308C>G (p.Ala1103Gly) c.3143C>G (p.Ala1048Gly) c.3502C>G (p.Leu1168Val) c.3478C>G (p.Leu1160Val) c.3475C>G (p.Leu1159Val) c.3403C>G (p.Leu1135Val) c.3388C>G (p.Leu1130Val) c.3313C>G (p.Leu1105Val) | |
1 | g.16986244G>T | CA338232015 | ATP13A2 | c.3520C>A (p.Leu1174Met) c.3218C>A (p.Ala1073Asp) c.3505C>A (p.Leu1169Met) n.1566C>A c.938C>A (p.Ala313Asp) c.3350C>A (p.Ala1117Asp) c.3347C>A (p.Ala1116Asp) c.3335C>A (p.Ala1112Asp) c.3323C>A (p.Ala1108Asp) c.3290C>A (p.Ala1097Asp) c.3233C>A (p.Ala1078Asp) c.3332C>A (p.Ala1111Asp) c.3308C>A (p.Ala1103Asp) c.3143C>A (p.Ala1048Asp) c.3502C>A (p.Leu1168Met) c.3478C>A (p.Leu1160Met) c.3475C>A (p.Leu1159Met) c.3403C>A (p.Leu1135Met) c.3388C>A (p.Leu1130Met) c.3313C>A (p.Leu1105Met) | |
1 | g.16986245C>A | CA338232019 | ATP13A2 | c.3519G>T (p.Pro1173=) c.3217G>T (p.Ala1073Ser) c.3504G>T (p.Pro1168=) n.1565G>T c.937G>T (p.Ala313Ser) c.3349G>T (p.Ala1117Ser) c.3346G>T (p.Ala1116Ser) c.3334G>T (p.Ala1112Ser) c.3322G>T (p.Ala1108Ser) c.3289G>T (p.Ala1097Ser) c.3232G>T (p.Ala1078Ser) c.3331G>T (p.Ala1111Ser) c.3307G>T (p.Ala1103Ser) c.3142G>T (p.Ala1048Ser) c.3501G>T (p.Pro1167=) c.3477G>T (p.Pro1159=) c.3474G>T (p.Pro1158=) c.3402G>T (p.Pro1134=) c.3387G>T (p.Pro1129=) c.3312G>T (p.Pro1104=) | dbSNP |
1 | g.16986245C= | CA1156049310 | ATP13A2 | c.3519G= (p.Pro1173=) c.3217G= (p.Ala1073=) c.3504G= (p.Pro1168=) n.1565G= c.937G= (p.Ala313=) c.3349G= (p.Ala1117=) c.3346G= (p.Ala1116=) c.3334G= (p.Ala1112=) c.3322G= (p.Ala1108=) c.3289G= (p.Ala1097=) c.3232G= (p.Ala1078=) c.3331G= (p.Ala1111=) c.3307G= (p.Ala1103=) c.3142G= (p.Ala1048=) c.3501G= (p.Pro1167=) c.3477G= (p.Pro1159=) c.3474G= (p.Pro1158=) c.3402G= (p.Pro1134=) c.3387G= (p.Pro1129=) c.3312G= (p.Pro1104=) | |
1 | g.16986245C>G | CA338232024 | ATP13A2 | c.3519G>C (p.Pro1173=) c.3217G>C (p.Ala1073Pro) c.3504G>C (p.Pro1168=) n.1565G>C c.937G>C (p.Ala313Pro) c.3349G>C (p.Ala1117Pro) c.3346G>C (p.Ala1116Pro) c.3334G>C (p.Ala1112Pro) c.3322G>C (p.Ala1108Pro) c.3289G>C (p.Ala1097Pro) c.3232G>C (p.Ala1078Pro) c.3331G>C (p.Ala1111Pro) c.3307G>C (p.Ala1103Pro) c.3142G>C (p.Ala1048Pro) c.3501G>C (p.Pro1167=) c.3477G>C (p.Pro1159=) c.3474G>C (p.Pro1158=) c.3402G>C (p.Pro1134=) c.3387G>C (p.Pro1129=) c.3312G>C (p.Pro1104=) | |
1 | g.16986245C>T | CA636461 | ATP13A2 | c.3519G>A (p.Pro1173=) c.3217G>A (p.Ala1073Thr) c.3504G>A (p.Pro1168=) n.1565G>A c.937G>A (p.Ala313Thr) c.3349G>A (p.Ala1117Thr) c.3346G>A (p.Ala1116Thr) c.3334G>A (p.Ala1112Thr) c.3322G>A (p.Ala1108Thr) c.3289G>A (p.Ala1097Thr) c.3232G>A (p.Ala1078Thr) c.3331G>A (p.Ala1111Thr) c.3307G>A (p.Ala1103Thr) c.3142G>A (p.Ala1048Thr) c.3501G>A (p.Pro1167=) c.3477G>A (p.Pro1159=) c.3474G>A (p.Pro1158=) c.3402G>A (p.Pro1134=) c.3387G>A (p.Pro1129=) c.3312G>A (p.Pro1104=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986246G>A | CA636462 | ATP13A2 | c.3518C>T (p.Pro1173Leu) c.3216C>T (p.Ala1072=) c.3503C>T (p.Pro1168Leu) n.1564C>T c.936C>T (p.Ala312=) c.3348C>T (p.Ala1116=) c.3345C>T (p.Ala1115=) c.3333C>T (p.Ala1111=) c.3321C>T (p.Ala1107=) c.3288C>T (p.Ala1096=) c.3231C>T (p.Ala1077=) c.3330C>T (p.Ala1110=) c.3306C>T (p.Ala1102=) c.3141C>T (p.Ala1047=) c.3500C>T (p.Pro1167Leu) c.3476C>T (p.Pro1159Leu) c.3473C>T (p.Pro1158Leu) c.3401C>T (p.Pro1134Leu) c.3386C>T (p.Pro1129Leu) c.3311C>T (p.Pro1104Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986246G>C | CA338232038 | ATP13A2 | c.3518C>G (p.Pro1173Arg) c.3216C>G (p.Ala1072=) c.3503C>G (p.Pro1168Arg) n.1564C>G c.936C>G (p.Ala312=) c.3348C>G (p.Ala1116=) c.3345C>G (p.Ala1115=) c.3333C>G (p.Ala1111=) c.3321C>G (p.Ala1107=) c.3288C>G (p.Ala1096=) c.3231C>G (p.Ala1077=) c.3330C>G (p.Ala1110=) c.3306C>G (p.Ala1102=) c.3141C>G (p.Ala1047=) c.3500C>G (p.Pro1167Arg) c.3476C>G (p.Pro1159Arg) c.3473C>G (p.Pro1158Arg) c.3401C>G (p.Pro1134Arg) c.3386C>G (p.Pro1129Arg) c.3311C>G (p.Pro1104Arg) | dbSNP |
1 | g.16986246G= | CA1143898417 | ATP13A2 | c.3518C= (p.Pro1173=) c.3216C= (p.Ala1072=) c.3503C= (p.Pro1168=) n.1564C= c.936C= (p.Ala312=) c.3348C= (p.Ala1116=) c.3345C= (p.Ala1115=) c.3333C= (p.Ala1111=) c.3321C= (p.Ala1107=) c.3288C= (p.Ala1096=) c.3231C= (p.Ala1077=) c.3330C= (p.Ala1110=) c.3306C= (p.Ala1102=) c.3141C= (p.Ala1047=) c.3500C= (p.Pro1167=) c.3476C= (p.Pro1159=) c.3473C= (p.Pro1158=) c.3401C= (p.Pro1134=) c.3386C= (p.Pro1129=) c.3311C= (p.Pro1104=) | |
1 | g.16986246G>T | CA338232040 | ATP13A2 | c.3518C>A (p.Pro1173Gln) c.3216C>A (p.Ala1072=) c.3503C>A (p.Pro1168Gln) n.1564C>A c.936C>A (p.Ala312=) c.3348C>A (p.Ala1116=) c.3345C>A (p.Ala1115=) c.3333C>A (p.Ala1111=) c.3321C>A (p.Ala1107=) c.3288C>A (p.Ala1096=) c.3231C>A (p.Ala1077=) c.3330C>A (p.Ala1110=) c.3306C>A (p.Ala1102=) c.3141C>A (p.Ala1047=) c.3500C>A (p.Pro1167Gln) c.3476C>A (p.Pro1159Gln) c.3473C>A (p.Pro1158Gln) c.3401C>A (p.Pro1134Gln) c.3386C>A (p.Pro1129Gln) c.3311C>A (p.Pro1104Gln) | dbSNP gnomAD v4 |
1 | g.16986247G>A | CA338232047 | ATP13A2 | c.3517C>T (p.Pro1173Ser) c.3215C>T (p.Ala1072Val) c.3502C>T (p.Pro1168Ser) n.1563C>T c.935C>T (p.Ala312Val) c.3347C>T (p.Ala1116Val) c.3344C>T (p.Ala1115Val) c.3332C>T (p.Ala1111Val) c.3320C>T (p.Ala1107Val) c.3287C>T (p.Ala1096Val) c.3230C>T (p.Ala1077Val) c.3329C>T (p.Ala1110Val) c.3305C>T (p.Ala1102Val) c.3140C>T (p.Ala1047Val) c.3499C>T (p.Pro1167Ser) c.3475C>T (p.Pro1159Ser) c.3472C>T (p.Pro1158Ser) c.3400C>T (p.Pro1134Ser) c.3385C>T (p.Pro1129Ser) c.3310C>T (p.Pro1104Ser) | COSMIC COSMIC |
1 | g.16986247G>C | CA338232048 | ATP13A2 | c.3517C>G (p.Pro1173Ala) c.3215C>G (p.Ala1072Gly) c.3502C>G (p.Pro1168Ala) n.1563C>G c.935C>G (p.Ala312Gly) c.3347C>G (p.Ala1116Gly) c.3344C>G (p.Ala1115Gly) c.3332C>G (p.Ala1111Gly) c.3320C>G (p.Ala1107Gly) c.3287C>G (p.Ala1096Gly) c.3230C>G (p.Ala1077Gly) c.3329C>G (p.Ala1110Gly) c.3305C>G (p.Ala1102Gly) c.3140C>G (p.Ala1047Gly) c.3499C>G (p.Pro1167Ala) c.3475C>G (p.Pro1159Ala) c.3472C>G (p.Pro1158Ala) c.3400C>G (p.Pro1134Ala) c.3385C>G (p.Pro1129Ala) c.3310C>G (p.Pro1104Ala) | |
1 | g.16986247G= | CA1156049321 | ATP13A2 | c.3517C= (p.Pro1173=) c.3215C= (p.Ala1072=) c.3502C= (p.Pro1168=) n.1563C= c.935C= (p.Ala312=) c.3347C= (p.Ala1116=) c.3344C= (p.Ala1115=) c.3332C= (p.Ala1111=) c.3320C= (p.Ala1107=) c.3287C= (p.Ala1096=) c.3230C= (p.Ala1077=) c.3329C= (p.Ala1110=) c.3305C= (p.Ala1102=) c.3140C= (p.Ala1047=) c.3499C= (p.Pro1167=) c.3475C= (p.Pro1159=) c.3472C= (p.Pro1158=) c.3400C= (p.Pro1134=) c.3385C= (p.Pro1129=) c.3310C= (p.Pro1104=) | |
1 | g.16986247G>T | CA338232050 | ATP13A2 | c.3517C>A (p.Pro1173Thr) c.3215C>A (p.Ala1072Asp) c.3502C>A (p.Pro1168Thr) n.1563C>A c.935C>A (p.Ala312Asp) c.3347C>A (p.Ala1116Asp) c.3344C>A (p.Ala1115Asp) c.3332C>A (p.Ala1111Asp) c.3320C>A (p.Ala1107Asp) c.3287C>A (p.Ala1096Asp) c.3230C>A (p.Ala1077Asp) c.3329C>A (p.Ala1110Asp) c.3305C>A (p.Ala1102Asp) c.3140C>A (p.Ala1047Asp) c.3499C>A (p.Pro1167Thr) c.3475C>A (p.Pro1159Thr) c.3472C>A (p.Pro1158Thr) c.3400C>A (p.Pro1134Thr) c.3385C>A (p.Pro1129Thr) c.3310C>A (p.Pro1104Thr) | |
1 | g.16986247_16986257delinsGCGGCCAGGGC | CA1156049323 | ATP13A2 | c.3507_3517delinsGCCCTGGCCGC (p.Gln1169=) c.3205_3215delinsGCCCTGGCCGC (p.Ala1069=) c.3492_3502delinsGCCCTGGCCGC (p.Gln1164=) n.1553_1563delinsGCCCTGGCCGC c.925_935delinsGCCCTGGCCGC (p.Ala309=) c.3337_3347delinsGCCCTGGCCGC (p.Ala1113=) c.3334_3344delinsGCCCTGGCCGC (p.Ala1112=) c.3322_3332delinsGCCCTGGCCGC (p.Ala1108=) c.3310_3320delinsGCCCTGGCCGC (p.Ala1104=) c.3277_3287delinsGCCCTGGCCGC (p.Ala1093=) c.3220_3230delinsGCCCTGGCCGC (p.Ala1074=) c.3319_3329delinsGCCCTGGCCGC (p.Ala1107=) c.3295_3305delinsGCCCTGGCCGC (p.Ala1099=) c.3130_3140delinsGCCCTGGCCGC (p.Ala1044=) c.3489_3499delinsGCCCTGGCCGC (p.Gln1163=) c.3465_3475delinsGCCCTGGCCGC (p.Gln1155=) c.3462_3472delinsGCCCTGGCCGC (p.Gln1154=) c.3390_3400delinsGCCCTGGCCGC (p.Gln1130=) c.3375_3385delinsGCCCTGGCCGC (p.Gln1125=) c.3300_3310delinsGCCCTGGCCGC (p.Gln1100=) | |
1 | g.16986248C>A | CA338232074 | ATP13A2 | c.3516G>T (p.Pro1172=) c.3214G>T (p.Ala1072Ser) c.3501G>T (p.Pro1167=) n.1562G>T c.934G>T (p.Ala312Ser) c.3346G>T (p.Ala1116Ser) c.3343G>T (p.Ala1115Ser) c.3331G>T (p.Ala1111Ser) c.3319G>T (p.Ala1107Ser) c.3286G>T (p.Ala1096Ser) c.3229G>T (p.Ala1077Ser) c.3328G>T (p.Ala1110Ser) c.3304G>T (p.Ala1102Ser) c.3139G>T (p.Ala1047Ser) c.3498G>T (p.Pro1166=) c.3474G>T (p.Pro1158=) c.3471G>T (p.Pro1157=) c.3399G>T (p.Pro1133=) c.3384G>T (p.Pro1128=) c.3309G>T (p.Pro1103=) | gnomAD v4 |
1 | g.16986248C= | CA1139988465 | ATP13A2 | c.3516G= (p.Pro1172=) c.3214G= (p.Ala1072=) c.3501G= (p.Pro1167=) n.1562G= c.934G= (p.Ala312=) c.3346G= (p.Ala1116=) c.3343G= (p.Ala1115=) c.3331G= (p.Ala1111=) c.3319G= (p.Ala1107=) c.3286G= (p.Ala1096=) c.3229G= (p.Ala1077=) c.3328G= (p.Ala1110=) c.3304G= (p.Ala1102=) c.3139G= (p.Ala1047=) c.3498G= (p.Pro1166=) c.3474G= (p.Pro1158=) c.3471G= (p.Pro1157=) c.3399G= (p.Pro1133=) c.3384G= (p.Pro1128=) c.3309G= (p.Pro1103=) | |
1 | g.16986248C>G | CA338232073 | ATP13A2 | c.3516G>C (p.Pro1172=) c.3214G>C (p.Ala1072Pro) c.3501G>C (p.Pro1167=) n.1562G>C c.934G>C (p.Ala312Pro) c.3346G>C (p.Ala1116Pro) c.3343G>C (p.Ala1115Pro) c.3331G>C (p.Ala1111Pro) c.3319G>C (p.Ala1107Pro) c.3286G>C (p.Ala1096Pro) c.3229G>C (p.Ala1077Pro) c.3328G>C (p.Ala1110Pro) c.3304G>C (p.Ala1102Pro) c.3139G>C (p.Ala1047Pro) c.3498G>C (p.Pro1166=) c.3474G>C (p.Pro1158=) c.3471G>C (p.Pro1157=) c.3399G>C (p.Pro1133=) c.3384G>C (p.Pro1128=) c.3309G>C (p.Pro1103=) | dbSNP |
1 | g.16986248C>T | CA151963 | ATP13A2 | c.3516G>A (p.Pro1172=) c.3214G>A (p.Ala1072Thr) c.3501G>A (p.Pro1167=) n.1562G>A c.934G>A (p.Ala312Thr) c.3346G>A (p.Ala1116Thr) c.3343G>A (p.Ala1115Thr) c.3331G>A (p.Ala1111Thr) c.3319G>A (p.Ala1107Thr) c.3286G>A (p.Ala1096Thr) c.3229G>A (p.Ala1077Thr) c.3328G>A (p.Ala1110Thr) c.3304G>A (p.Ala1102Thr) c.3139G>A (p.Ala1047Thr) c.3498G>A (p.Pro1166=) c.3474G>A (p.Pro1158=) c.3471G>A (p.Pro1157=) c.3399G>A (p.Pro1133=) c.3384G>A (p.Pro1128=) c.3309G>A (p.Pro1103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986248_16986257del | CA999085017 | ATP13A2 | c.3507_3516del (p.Gln1169HisfsTer8) c.3205_3214del (p.Ala1069ProfsTer9) c.3492_3501del (p.Gln1164HisfsTer8) n.1553_1562del c.925_934del (p.Ala309ProfsTer9) c.3337_3346del (p.Ala1113ProfsTer9) c.3334_3343del (p.Ala1112ProfsTer9) c.3322_3331del (p.Ala1108ProfsTer9) c.3310_3319del (p.Ala1104ProfsTer9) c.3277_3286del (p.Ala1093ProfsTer9) c.3220_3229del (p.Ala1074ProfsTer9) c.3319_3328del (p.Ala1107ProfsTer9) c.3295_3304del (p.Ala1099ProfsTer9) c.3130_3139del (p.Ala1044ProfsTer9) c.3489_3498del (p.Gln1163HisfsTer8) c.3465_3474del (p.Gln1155HisfsTer8) c.3462_3471del (p.Gln1154HisfsTer8) c.3390_3399del (p.Gln1130HisfsTer8) c.3375_3384del (p.Gln1125HisfsTer8) c.3300_3309del (p.Gln1100HisfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986255_16986268dup | CA636463 | ATP13A2 | c.3503_3516dup (p.Pro1173SerfsTer12) c.3201_3214dup (p.Ala1072GlufsTer14) c.3488_3501dup (p.Pro1168SerfsTer12) n.1549_1562dup c.921_934dup (p.Ala312GlufsTer14) c.3333_3346dup (p.Ala1116GlufsTer14) c.3330_3343dup (p.Ala1115GlufsTer14) c.3318_3331dup (p.Ala1111GlufsTer14) c.3306_3319dup (p.Ala1107GlufsTer14) c.3273_3286dup (p.Ala1096GlufsTer14) c.3216_3229dup (p.Ala1077GlufsTer14) c.3315_3328dup (p.Ala1110GlufsTer14) c.3291_3304dup (p.Ala1102GlufsTer14) c.3126_3139dup (p.Ala1047GlufsTer14) c.3485_3498dup (p.Pro1167SerfsTer12) c.3461_3474dup (p.Pro1159SerfsTer12) c.3458_3471dup (p.Pro1158SerfsTer12) c.3386_3399dup (p.Pro1134SerfsTer12) c.3371_3384dup (p.Pro1129SerfsTer12) c.3296_3309dup (p.Pro1104SerfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986249G>A | CA636464 | ATP13A2 | c.3515C>T (p.Pro1172Leu) c.3213C>T (p.Ala1071=) c.3500C>T (p.Pro1167Leu) n.1561C>T c.933C>T (p.Ala311=) c.3345C>T (p.Ala1115=) c.3342C>T (p.Ala1114=) c.3330C>T (p.Ala1110=) c.3318C>T (p.Ala1106=) c.3285C>T (p.Ala1095=) c.3228C>T (p.Ala1076=) c.3327C>T (p.Ala1109=) c.3303C>T (p.Ala1101=) c.3138C>T (p.Ala1046=) c.3497C>T (p.Pro1166Leu) c.3473C>T (p.Pro1158Leu) c.3470C>T (p.Pro1157Leu) c.3398C>T (p.Pro1133Leu) c.3383C>T (p.Pro1128Leu) c.3308C>T (p.Pro1103Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986249G>C | CA338232075 | ATP13A2 | c.3515C>G (p.Pro1172Arg) c.3213C>G (p.Ala1071=) c.3500C>G (p.Pro1167Arg) n.1561C>G c.933C>G (p.Ala311=) c.3345C>G (p.Ala1115=) c.3342C>G (p.Ala1114=) c.3330C>G (p.Ala1110=) c.3318C>G (p.Ala1106=) c.3285C>G (p.Ala1095=) c.3228C>G (p.Ala1076=) c.3327C>G (p.Ala1109=) c.3303C>G (p.Ala1101=) c.3138C>G (p.Ala1046=) c.3497C>G (p.Pro1166Arg) c.3473C>G (p.Pro1158Arg) c.3470C>G (p.Pro1157Arg) c.3398C>G (p.Pro1133Arg) c.3383C>G (p.Pro1128Arg) c.3308C>G (p.Pro1103Arg) | |
1 | g.16986249G= | CA1156049330 | ATP13A2 | c.3515C= (p.Pro1172=) c.3213C= (p.Ala1071=) c.3500C= (p.Pro1167=) n.1561C= c.933C= (p.Ala311=) c.3345C= (p.Ala1115=) c.3342C= (p.Ala1114=) c.3330C= (p.Ala1110=) c.3318C= (p.Ala1106=) c.3285C= (p.Ala1095=) c.3228C= (p.Ala1076=) c.3327C= (p.Ala1109=) c.3303C= (p.Ala1101=) c.3138C= (p.Ala1046=) c.3497C= (p.Pro1166=) c.3473C= (p.Pro1158=) c.3470C= (p.Pro1157=) c.3398C= (p.Pro1133=) c.3383C= (p.Pro1128=) c.3308C= (p.Pro1103=) | |
1 | g.16986249G>T | CA338232076 | ATP13A2 | c.3515C>A (p.Pro1172Gln) c.3213C>A (p.Ala1071=) c.3500C>A (p.Pro1167Gln) n.1561C>A c.933C>A (p.Ala311=) c.3345C>A (p.Ala1115=) c.3342C>A (p.Ala1114=) c.3330C>A (p.Ala1110=) c.3318C>A (p.Ala1106=) c.3285C>A (p.Ala1095=) c.3228C>A (p.Ala1076=) c.3327C>A (p.Ala1109=) c.3303C>A (p.Ala1101=) c.3138C>A (p.Ala1046=) c.3497C>A (p.Pro1166Gln) c.3473C>A (p.Pro1158Gln) c.3470C>A (p.Pro1157Gln) c.3398C>A (p.Pro1133Gln) c.3383C>A (p.Pro1128Gln) c.3308C>A (p.Pro1103Gln) | gnomAD v4 |
1 | g.16986250G>A | CA338232078 | ATP13A2 | c.3514C>T (p.Pro1172Ser) c.3212C>T (p.Ala1071Val) c.3499C>T (p.Pro1167Ser) n.1560C>T c.932C>T (p.Ala311Val) c.3344C>T (p.Ala1115Val) c.3341C>T (p.Ala1114Val) c.3329C>T (p.Ala1110Val) c.3317C>T (p.Ala1106Val) c.3284C>T (p.Ala1095Val) c.3227C>T (p.Ala1076Val) c.3326C>T (p.Ala1109Val) c.3302C>T (p.Ala1101Val) c.3137C>T (p.Ala1046Val) c.3496C>T (p.Pro1166Ser) c.3472C>T (p.Pro1158Ser) c.3469C>T (p.Pro1157Ser) c.3397C>T (p.Pro1133Ser) c.3382C>T (p.Pro1128Ser) c.3307C>T (p.Pro1103Ser) | |
1 | g.16986250G>C | CA338232090 | ATP13A2 | c.3514C>G (p.Pro1172Ala) c.3212C>G (p.Ala1071Gly) c.3499C>G (p.Pro1167Ala) n.1560C>G c.932C>G (p.Ala311Gly) c.3344C>G (p.Ala1115Gly) c.3341C>G (p.Ala1114Gly) c.3329C>G (p.Ala1110Gly) c.3317C>G (p.Ala1106Gly) c.3284C>G (p.Ala1095Gly) c.3227C>G (p.Ala1076Gly) c.3326C>G (p.Ala1109Gly) c.3302C>G (p.Ala1101Gly) c.3137C>G (p.Ala1046Gly) c.3496C>G (p.Pro1166Ala) c.3472C>G (p.Pro1158Ala) c.3469C>G (p.Pro1157Ala) c.3397C>G (p.Pro1133Ala) c.3382C>G (p.Pro1128Ala) c.3307C>G (p.Pro1103Ala) | |
1 | g.16986250G>T | CA338232087 | ATP13A2 | c.3514C>A (p.Pro1172Thr) c.3212C>A (p.Ala1071Asp) c.3499C>A (p.Pro1167Thr) n.1560C>A c.932C>A (p.Ala311Asp) c.3344C>A (p.Ala1115Asp) c.3341C>A (p.Ala1114Asp) c.3329C>A (p.Ala1110Asp) c.3317C>A (p.Ala1106Asp) c.3284C>A (p.Ala1095Asp) c.3227C>A (p.Ala1076Asp) c.3326C>A (p.Ala1109Asp) c.3302C>A (p.Ala1101Asp) c.3137C>A (p.Ala1046Asp) c.3496C>A (p.Pro1166Thr) c.3472C>A (p.Pro1158Thr) c.3469C>A (p.Pro1157Thr) c.3397C>A (p.Pro1133Thr) c.3382C>A (p.Pro1128Thr) c.3307C>A (p.Pro1103Thr) | |
1 | g.16986251C>A | CA338232092 | ATP13A2 | c.3513G>T (p.Trp1171Cys) c.3211G>T (p.Ala1071Ser) c.3498G>T (p.Trp1166Cys) n.1559G>T c.931G>T (p.Ala311Ser) c.3343G>T (p.Ala1115Ser) c.3340G>T (p.Ala1114Ser) c.3328G>T (p.Ala1110Ser) c.3316G>T (p.Ala1106Ser) c.3283G>T (p.Ala1095Ser) c.3226G>T (p.Ala1076Ser) c.3325G>T (p.Ala1109Ser) c.3301G>T (p.Ala1101Ser) c.3136G>T (p.Ala1046Ser) c.3495G>T (p.Trp1165Cys) c.3471G>T (p.Trp1157Cys) c.3468G>T (p.Trp1156Cys) c.3396G>T (p.Trp1132Cys) c.3381G>T (p.Trp1127Cys) c.3306G>T (p.Trp1102Cys) | |
1 | g.16986251C>G | CA338232096 | ATP13A2 | c.3513G>C (p.Trp1171Cys) c.3211G>C (p.Ala1071Pro) c.3498G>C (p.Trp1166Cys) n.1559G>C c.931G>C (p.Ala311Pro) c.3343G>C (p.Ala1115Pro) c.3340G>C (p.Ala1114Pro) c.3328G>C (p.Ala1110Pro) c.3316G>C (p.Ala1106Pro) c.3283G>C (p.Ala1095Pro) c.3226G>C (p.Ala1076Pro) c.3325G>C (p.Ala1109Pro) c.3301G>C (p.Ala1101Pro) c.3136G>C (p.Ala1046Pro) c.3495G>C (p.Trp1165Cys) c.3471G>C (p.Trp1157Cys) c.3468G>C (p.Trp1156Cys) c.3396G>C (p.Trp1132Cys) c.3381G>C (p.Trp1127Cys) c.3306G>C (p.Trp1102Cys) | |
1 | g.16986251C>T | CA338232093 | ATP13A2 | c.3513G>A (p.Trp1171Ter) c.3211G>A (p.Ala1071Thr) c.3498G>A (p.Trp1166Ter) n.1559G>A c.931G>A (p.Ala311Thr) c.3343G>A (p.Ala1115Thr) c.3340G>A (p.Ala1114Thr) c.3328G>A (p.Ala1110Thr) c.3316G>A (p.Ala1106Thr) c.3283G>A (p.Ala1095Thr) c.3226G>A (p.Ala1076Thr) c.3325G>A (p.Ala1109Thr) c.3301G>A (p.Ala1101Thr) c.3136G>A (p.Ala1046Thr) c.3495G>A (p.Trp1165Ter) c.3471G>A (p.Trp1157Ter) c.3468G>A (p.Trp1156Ter) c.3396G>A (p.Trp1132Ter) c.3381G>A (p.Trp1127Ter) c.3306G>A (p.Trp1102Ter) | |
1 | g.16986252C>A | CA338232098 | ATP13A2 | c.3512G>T (p.Trp1171Leu) c.3210G>T (p.Leu1070=) c.3497G>T (p.Trp1166Leu) n.1558G>T c.930G>T (p.Leu310=) c.3342G>T (p.Leu1114=) c.3339G>T (p.Leu1113=) c.3327G>T (p.Leu1109=) c.3315G>T (p.Leu1105=) c.3282G>T (p.Leu1094=) c.3225G>T (p.Leu1075=) c.3324G>T (p.Leu1108=) c.3300G>T (p.Leu1100=) c.3135G>T (p.Leu1045=) c.3494G>T (p.Trp1165Leu) c.3470G>T (p.Trp1157Leu) c.3467G>T (p.Trp1156Leu) c.3395G>T (p.Trp1132Leu) c.3380G>T (p.Trp1127Leu) c.3305G>T (p.Trp1102Leu) | |
1 | g.16986252C= | CA1156049339 | ATP13A2 | c.3512G= (p.Trp1171=) c.3210G= (p.Leu1070=) c.3497G= (p.Trp1166=) n.1558G= c.930G= (p.Leu310=) c.3342G= (p.Leu1114=) c.3339G= (p.Leu1113=) c.3327G= (p.Leu1109=) c.3315G= (p.Leu1105=) c.3282G= (p.Leu1094=) c.3225G= (p.Leu1075=) c.3324G= (p.Leu1108=) c.3300G= (p.Leu1100=) c.3135G= (p.Leu1045=) c.3494G= (p.Trp1165=) c.3470G= (p.Trp1157=) c.3467G= (p.Trp1156=) c.3395G= (p.Trp1132=) c.3380G= (p.Trp1127=) c.3305G= (p.Trp1102=) | |
1 | g.16986252C>G | CA338232099 | ATP13A2 | c.3512G>C (p.Trp1171Ser) c.3210G>C (p.Leu1070=) c.3497G>C (p.Trp1166Ser) n.1558G>C c.930G>C (p.Leu310=) c.3342G>C (p.Leu1114=) c.3339G>C (p.Leu1113=) c.3327G>C (p.Leu1109=) c.3315G>C (p.Leu1105=) c.3282G>C (p.Leu1094=) c.3225G>C (p.Leu1075=) c.3324G>C (p.Leu1108=) c.3300G>C (p.Leu1100=) c.3135G>C (p.Leu1045=) c.3494G>C (p.Trp1165Ser) c.3470G>C (p.Trp1157Ser) c.3467G>C (p.Trp1156Ser) c.3395G>C (p.Trp1132Ser) c.3380G>C (p.Trp1127Ser) c.3305G>C (p.Trp1102Ser) | dbSNP gnomAD v2 |
1 | g.16986252C>T | CA338232101 | ATP13A2 | c.3512G>A (p.Trp1171Ter) c.3210G>A (p.Leu1070=) c.3497G>A (p.Trp1166Ter) n.1558G>A c.930G>A (p.Leu310=) c.3342G>A (p.Leu1114=) c.3339G>A (p.Leu1113=) c.3327G>A (p.Leu1109=) c.3315G>A (p.Leu1105=) c.3282G>A (p.Leu1094=) c.3225G>A (p.Leu1075=) c.3324G>A (p.Leu1108=) c.3300G>A (p.Leu1100=) c.3135G>A (p.Leu1045=) c.3494G>A (p.Trp1165Ter) c.3470G>A (p.Trp1157Ter) c.3467G>A (p.Trp1156Ter) c.3395G>A (p.Trp1132Ter) c.3380G>A (p.Trp1127Ter) c.3305G>A (p.Trp1102Ter) | |
1 | g.16986253A>C | CA338232104 | ATP13A2 | c.3511T>G (p.Trp1171Gly) c.3209T>G (p.Leu1070Arg) c.3496T>G (p.Trp1166Gly) n.1557T>G c.929T>G (p.Leu310Arg) c.3341T>G (p.Leu1114Arg) c.3338T>G (p.Leu1113Arg) c.3326T>G (p.Leu1109Arg) c.3314T>G (p.Leu1105Arg) c.3281T>G (p.Leu1094Arg) c.3224T>G (p.Leu1075Arg) c.3323T>G (p.Leu1108Arg) c.3299T>G (p.Leu1100Arg) c.3134T>G (p.Leu1045Arg) c.3493T>G (p.Trp1165Gly) c.3469T>G (p.Trp1157Gly) c.3466T>G (p.Trp1156Gly) c.3394T>G (p.Trp1132Gly) c.3379T>G (p.Trp1127Gly) c.3304T>G (p.Trp1102Gly) | |
1 | g.16986253A>G | CA338232106 | ATP13A2 | c.3511T>C (p.Trp1171Arg) c.3209T>C (p.Leu1070Pro) c.3496T>C (p.Trp1166Arg) n.1557T>C c.929T>C (p.Leu310Pro) c.3341T>C (p.Leu1114Pro) c.3338T>C (p.Leu1113Pro) c.3326T>C (p.Leu1109Pro) c.3314T>C (p.Leu1105Pro) c.3281T>C (p.Leu1094Pro) c.3224T>C (p.Leu1075Pro) c.3323T>C (p.Leu1108Pro) c.3299T>C (p.Leu1100Pro) c.3134T>C (p.Leu1045Pro) c.3493T>C (p.Trp1165Arg) c.3469T>C (p.Trp1157Arg) c.3466T>C (p.Trp1156Arg) c.3394T>C (p.Trp1132Arg) c.3379T>C (p.Trp1127Arg) c.3304T>C (p.Trp1102Arg) | |
1 | g.16986253A>T | CA338232107 | ATP13A2 | c.3511T>A (p.Trp1171Arg) c.3209T>A (p.Leu1070Gln) c.3496T>A (p.Trp1166Arg) n.1557T>A c.929T>A (p.Leu310Gln) c.3341T>A (p.Leu1114Gln) c.3338T>A (p.Leu1113Gln) c.3326T>A (p.Leu1109Gln) c.3314T>A (p.Leu1105Gln) c.3281T>A (p.Leu1094Gln) c.3224T>A (p.Leu1075Gln) c.3323T>A (p.Leu1108Gln) c.3299T>A (p.Leu1100Gln) c.3134T>A (p.Leu1045Gln) c.3493T>A (p.Trp1165Arg) c.3469T>A (p.Trp1157Arg) c.3466T>A (p.Trp1156Arg) c.3394T>A (p.Trp1132Arg) c.3379T>A (p.Trp1127Arg) c.3304T>A (p.Trp1102Arg) | |
1 | g.16986254G>A | CA416093520 | ATP13A2 | c.3510C>T (p.Pro1170=) c.3208C>T (p.Leu1070=) c.3495C>T (p.Pro1165=) n.1556C>T c.928C>T (p.Leu310=) c.3340C>T (p.Leu1114=) c.3337C>T (p.Leu1113=) c.3325C>T (p.Leu1109=) c.3313C>T (p.Leu1105=) c.3280C>T (p.Leu1094=) c.3223C>T (p.Leu1075=) c.3322C>T (p.Leu1108=) c.3298C>T (p.Leu1100=) c.3133C>T (p.Leu1045=) c.3492C>T (p.Pro1164=) c.3468C>T (p.Pro1156=) c.3465C>T (p.Pro1155=) c.3393C>T (p.Pro1131=) c.3378C>T (p.Pro1126=) c.3303C>T (p.Pro1101=) | |
1 | g.16986254G>C | CA338232109 | ATP13A2 | c.3510C>G (p.Pro1170=) c.3208C>G (p.Leu1070Val) c.3495C>G (p.Pro1165=) n.1556C>G c.928C>G (p.Leu310Val) c.3340C>G (p.Leu1114Val) c.3337C>G (p.Leu1113Val) c.3325C>G (p.Leu1109Val) c.3313C>G (p.Leu1105Val) c.3280C>G (p.Leu1094Val) c.3223C>G (p.Leu1075Val) c.3322C>G (p.Leu1108Val) c.3298C>G (p.Leu1100Val) c.3133C>G (p.Leu1045Val) c.3492C>G (p.Pro1164=) c.3468C>G (p.Pro1156=) c.3465C>G (p.Pro1155=) c.3393C>G (p.Pro1131=) c.3378C>G (p.Pro1126=) c.3303C>G (p.Pro1101=) | gnomAD v4 |
1 | g.16986254G>T | CA338232108 | ATP13A2 | c.3510C>A (p.Pro1170=) c.3208C>A (p.Leu1070Met) c.3495C>A (p.Pro1165=) n.1556C>A c.928C>A (p.Leu310Met) c.3340C>A (p.Leu1114Met) c.3337C>A (p.Leu1113Met) c.3325C>A (p.Leu1109Met) c.3313C>A (p.Leu1105Met) c.3280C>A (p.Leu1094Met) c.3223C>A (p.Leu1075Met) c.3322C>A (p.Leu1108Met) c.3298C>A (p.Leu1100Met) c.3133C>A (p.Leu1045Met) c.3492C>A (p.Pro1164=) c.3468C>A (p.Pro1156=) c.3465C>A (p.Pro1155=) c.3393C>A (p.Pro1131=) c.3378C>A (p.Pro1126=) c.3303C>A (p.Pro1101=) | |
1 | g.16986255G>A | CA338232110 | ATP13A2 | c.3509C>T (p.Pro1170Leu) c.3207C>T (p.Ala1069=) c.3494C>T (p.Pro1165Leu) n.1555C>T c.927C>T (p.Ala309=) c.3339C>T (p.Ala1113=) c.3336C>T (p.Ala1112=) c.3324C>T (p.Ala1108=) c.3312C>T (p.Ala1104=) c.3279C>T (p.Ala1093=) c.3222C>T (p.Ala1074=) c.3321C>T (p.Ala1107=) c.3297C>T (p.Ala1099=) c.3132C>T (p.Ala1044=) c.3491C>T (p.Pro1164Leu) c.3467C>T (p.Pro1156Leu) c.3464C>T (p.Pro1155Leu) c.3392C>T (p.Pro1131Leu) c.3377C>T (p.Pro1126Leu) c.3302C>T (p.Pro1101Leu) | |
1 | g.16986255G>C | CA338232111 | ATP13A2 | c.3509C>G (p.Pro1170Arg) c.3207C>G (p.Ala1069=) c.3494C>G (p.Pro1165Arg) n.1555C>G c.927C>G (p.Ala309=) c.3339C>G (p.Ala1113=) c.3336C>G (p.Ala1112=) c.3324C>G (p.Ala1108=) c.3312C>G (p.Ala1104=) c.3279C>G (p.Ala1093=) c.3222C>G (p.Ala1074=) c.3321C>G (p.Ala1107=) c.3297C>G (p.Ala1099=) c.3132C>G (p.Ala1044=) c.3491C>G (p.Pro1164Arg) c.3467C>G (p.Pro1156Arg) c.3464C>G (p.Pro1155Arg) c.3392C>G (p.Pro1131Arg) c.3377C>G (p.Pro1126Arg) c.3302C>G (p.Pro1101Arg) | |
1 | g.16986255G>T | CA338232112 | ATP13A2 | c.3509C>A (p.Pro1170His) c.3207C>A (p.Ala1069=) c.3494C>A (p.Pro1165His) n.1555C>A c.927C>A (p.Ala309=) c.3339C>A (p.Ala1113=) c.3336C>A (p.Ala1112=) c.3324C>A (p.Ala1108=) c.3312C>A (p.Ala1104=) c.3279C>A (p.Ala1093=) c.3222C>A (p.Ala1074=) c.3321C>A (p.Ala1107=) c.3297C>A (p.Ala1099=) c.3132C>A (p.Ala1044=) c.3491C>A (p.Pro1164His) c.3467C>A (p.Pro1156His) c.3464C>A (p.Pro1155His) c.3392C>A (p.Pro1131His) c.3377C>A (p.Pro1126His) c.3302C>A (p.Pro1101His) | |
1 | g.16986256G>A | CA338232113 | ATP13A2 | c.3508C>T (p.Pro1170Ser) c.3206C>T (p.Ala1069Val) c.3493C>T (p.Pro1165Ser) n.1554C>T c.926C>T (p.Ala309Val) c.3338C>T (p.Ala1113Val) c.3335C>T (p.Ala1112Val) c.3323C>T (p.Ala1108Val) c.3311C>T (p.Ala1104Val) c.3278C>T (p.Ala1093Val) c.3221C>T (p.Ala1074Val) c.3320C>T (p.Ala1107Val) c.3296C>T (p.Ala1099Val) c.3131C>T (p.Ala1044Val) c.3490C>T (p.Pro1164Ser) c.3466C>T (p.Pro1156Ser) c.3463C>T (p.Pro1155Ser) c.3391C>T (p.Pro1131Ser) c.3376C>T (p.Pro1126Ser) c.3301C>T (p.Pro1101Ser) | |
1 | g.16986256G>C | CA338232116 | ATP13A2 | c.3508C>G (p.Pro1170Ala) c.3206C>G (p.Ala1069Gly) c.3493C>G (p.Pro1165Ala) n.1554C>G c.926C>G (p.Ala309Gly) c.3338C>G (p.Ala1113Gly) c.3335C>G (p.Ala1112Gly) c.3323C>G (p.Ala1108Gly) c.3311C>G (p.Ala1104Gly) c.3278C>G (p.Ala1093Gly) c.3221C>G (p.Ala1074Gly) c.3320C>G (p.Ala1107Gly) c.3296C>G (p.Ala1099Gly) c.3131C>G (p.Ala1044Gly) c.3490C>G (p.Pro1164Ala) c.3466C>G (p.Pro1156Ala) c.3463C>G (p.Pro1155Ala) c.3391C>G (p.Pro1131Ala) c.3376C>G (p.Pro1126Ala) c.3301C>G (p.Pro1101Ala) | |
1 | g.16986256G>T | CA338232117 | ATP13A2 | c.3508C>A (p.Pro1170Thr) c.3206C>A (p.Ala1069Asp) c.3493C>A (p.Pro1165Thr) n.1554C>A c.926C>A (p.Ala309Asp) c.3338C>A (p.Ala1113Asp) c.3335C>A (p.Ala1112Asp) c.3323C>A (p.Ala1108Asp) c.3311C>A (p.Ala1104Asp) c.3278C>A (p.Ala1093Asp) c.3221C>A (p.Ala1074Asp) c.3320C>A (p.Ala1107Asp) c.3296C>A (p.Ala1099Asp) c.3131C>A (p.Ala1044Asp) c.3490C>A (p.Pro1164Thr) c.3466C>A (p.Pro1156Thr) c.3463C>A (p.Pro1155Thr) c.3391C>A (p.Pro1131Thr) c.3376C>A (p.Pro1126Thr) c.3301C>A (p.Pro1101Thr) | |
1 | g.16986257C>A | CA338232122 | ATP13A2 | c.3507G>T (p.Gln1169His) c.3205G>T (p.Ala1069Ser) c.3492G>T (p.Gln1164His) n.1553G>T c.925G>T (p.Ala309Ser) c.3337G>T (p.Ala1113Ser) c.3334G>T (p.Ala1112Ser) c.3322G>T (p.Ala1108Ser) c.3310G>T (p.Ala1104Ser) c.3277G>T (p.Ala1093Ser) c.3220G>T (p.Ala1074Ser) c.3319G>T (p.Ala1107Ser) c.3295G>T (p.Ala1099Ser) c.3130G>T (p.Ala1044Ser) c.3489G>T (p.Gln1163His) c.3465G>T (p.Gln1155His) c.3462G>T (p.Gln1154His) c.3390G>T (p.Gln1130His) c.3375G>T (p.Gln1125His) c.3300G>T (p.Gln1100His) | |
1 | g.16986257C>G | CA338232119 | ATP13A2 | c.3507G>C (p.Gln1169His) c.3205G>C (p.Ala1069Pro) c.3492G>C (p.Gln1164His) n.1553G>C c.925G>C (p.Ala309Pro) c.3337G>C (p.Ala1113Pro) c.3334G>C (p.Ala1112Pro) c.3322G>C (p.Ala1108Pro) c.3310G>C (p.Ala1104Pro) c.3277G>C (p.Ala1093Pro) c.3220G>C (p.Ala1074Pro) c.3319G>C (p.Ala1107Pro) c.3295G>C (p.Ala1099Pro) c.3130G>C (p.Ala1044Pro) c.3489G>C (p.Gln1163His) c.3465G>C (p.Gln1155His) c.3462G>C (p.Gln1154His) c.3390G>C (p.Gln1130His) c.3375G>C (p.Gln1125His) c.3300G>C (p.Gln1100His) | |
1 | g.16986257C>T | CA338232121 | ATP13A2 | c.3507G>A (p.Gln1169=) c.3205G>A (p.Ala1069Thr) c.3492G>A (p.Gln1164=) n.1553G>A c.925G>A (p.Ala309Thr) c.3337G>A (p.Ala1113Thr) c.3334G>A (p.Ala1112Thr) c.3322G>A (p.Ala1108Thr) c.3310G>A (p.Ala1104Thr) c.3277G>A (p.Ala1093Thr) c.3220G>A (p.Ala1074Thr) c.3319G>A (p.Ala1107Thr) c.3295G>A (p.Ala1099Thr) c.3130G>A (p.Ala1044Thr) c.3489G>A (p.Gln1163=) c.3465G>A (p.Gln1155=) c.3462G>A (p.Gln1154=) c.3390G>A (p.Gln1130=) c.3375G>A (p.Gln1125=) c.3300G>A (p.Gln1100=) | |
1 | g.16986258T>A | CA338232125 | ATP13A2 | c.3506A>T (p.Gln1169Leu) c.3204A>T (p.Ala1068=) c.3491A>T (p.Gln1164Leu) n.1552A>T c.924A>T (p.Ala308=) c.3336A>T (p.Ala1112=) c.3333A>T (p.Ala1111=) c.3321A>T (p.Ala1107=) c.3309A>T (p.Ala1103=) c.3276A>T (p.Ala1092=) c.3219A>T (p.Ala1073=) c.3318A>T (p.Ala1106=) c.3294A>T (p.Ala1098=) c.3129A>T (p.Ala1043=) c.3488A>T (p.Gln1163Leu) c.3464A>T (p.Gln1155Leu) c.3461A>T (p.Gln1154Leu) c.3389A>T (p.Gln1130Leu) c.3374A>T (p.Gln1125Leu) c.3299A>T (p.Gln1100Leu) | |
1 | g.16986258T>C | CA338232130 | ATP13A2 | c.3506A>G (p.Gln1169Arg) c.3204A>G (p.Ala1068=) c.3491A>G (p.Gln1164Arg) n.1552A>G c.924A>G (p.Ala308=) c.3336A>G (p.Ala1112=) c.3333A>G (p.Ala1111=) c.3321A>G (p.Ala1107=) c.3309A>G (p.Ala1103=) c.3276A>G (p.Ala1092=) c.3219A>G (p.Ala1073=) c.3318A>G (p.Ala1106=) c.3294A>G (p.Ala1098=) c.3129A>G (p.Ala1043=) c.3488A>G (p.Gln1163Arg) c.3464A>G (p.Gln1155Arg) c.3461A>G (p.Gln1154Arg) c.3389A>G (p.Gln1130Arg) c.3374A>G (p.Gln1125Arg) c.3299A>G (p.Gln1100Arg) | dbSNP |
1 | g.16986258T>G | CA338232133 | ATP13A2 | c.3506A>C (p.Gln1169Pro) c.3204A>C (p.Ala1068=) c.3491A>C (p.Gln1164Pro) n.1552A>C c.924A>C (p.Ala308=) c.3336A>C (p.Ala1112=) c.3333A>C (p.Ala1111=) c.3321A>C (p.Ala1107=) c.3309A>C (p.Ala1103=) c.3276A>C (p.Ala1092=) c.3219A>C (p.Ala1073=) c.3318A>C (p.Ala1106=) c.3294A>C (p.Ala1098=) c.3129A>C (p.Ala1043=) c.3488A>C (p.Gln1163Pro) c.3464A>C (p.Gln1155Pro) c.3461A>C (p.Gln1154Pro) c.3389A>C (p.Gln1130Pro) c.3374A>C (p.Gln1125Pro) c.3299A>C (p.Gln1100Pro) | |
1 | g.16986258T= | CA1156049346 | ATP13A2 | c.3506A= (p.Gln1169=) c.3204A= (p.Ala1068=) c.3491A= (p.Gln1164=) n.1552A= c.924A= (p.Ala308=) c.3336A= (p.Ala1112=) c.3333A= (p.Ala1111=) c.3321A= (p.Ala1107=) c.3309A= (p.Ala1103=) c.3276A= (p.Ala1092=) c.3219A= (p.Ala1073=) c.3318A= (p.Ala1106=) c.3294A= (p.Ala1098=) c.3129A= (p.Ala1043=) c.3488A= (p.Gln1163=) c.3464A= (p.Gln1155=) c.3461A= (p.Gln1154=) c.3389A= (p.Gln1130=) c.3374A= (p.Gln1125=) c.3299A= (p.Gln1100=) | |
1 | g.16986259G>A | CA338232135 | ATP13A2 | c.3505C>T (p.Gln1169Ter) c.3203C>T (p.Ala1068Val) c.3490C>T (p.Gln1164Ter) n.1551C>T c.923C>T (p.Ala308Val) c.3335C>T (p.Ala1112Val) c.3332C>T (p.Ala1111Val) c.3320C>T (p.Ala1107Val) c.3308C>T (p.Ala1103Val) c.3275C>T (p.Ala1092Val) c.3218C>T (p.Ala1073Val) c.3317C>T (p.Ala1106Val) c.3293C>T (p.Ala1098Val) c.3128C>T (p.Ala1043Val) c.3487C>T (p.Gln1163Ter) c.3463C>T (p.Gln1155Ter) c.3460C>T (p.Gln1154Ter) c.3388C>T (p.Gln1130Ter) c.3373C>T (p.Gln1125Ter) c.3298C>T (p.Gln1100Ter) | gnomAD v4 |
1 | g.16986259G>C | CA338232138 | ATP13A2 | c.3505C>G (p.Gln1169Glu) c.3203C>G (p.Ala1068Gly) c.3490C>G (p.Gln1164Glu) n.1551C>G c.923C>G (p.Ala308Gly) c.3335C>G (p.Ala1112Gly) c.3332C>G (p.Ala1111Gly) c.3320C>G (p.Ala1107Gly) c.3308C>G (p.Ala1103Gly) c.3275C>G (p.Ala1092Gly) c.3218C>G (p.Ala1073Gly) c.3317C>G (p.Ala1106Gly) c.3293C>G (p.Ala1098Gly) c.3128C>G (p.Ala1043Gly) c.3487C>G (p.Gln1163Glu) c.3463C>G (p.Gln1155Glu) c.3460C>G (p.Gln1154Glu) c.3388C>G (p.Gln1130Glu) c.3373C>G (p.Gln1125Glu) c.3298C>G (p.Gln1100Glu) | |
1 | g.16986259G>T | CA338232139 | ATP13A2 | c.3505C>A (p.Gln1169Lys) c.3203C>A (p.Ala1068Glu) c.3490C>A (p.Gln1164Lys) n.1551C>A c.923C>A (p.Ala308Glu) c.3335C>A (p.Ala1112Glu) c.3332C>A (p.Ala1111Glu) c.3320C>A (p.Ala1107Glu) c.3308C>A (p.Ala1103Glu) c.3275C>A (p.Ala1092Glu) c.3218C>A (p.Ala1073Glu) c.3317C>A (p.Ala1106Glu) c.3293C>A (p.Ala1098Glu) c.3128C>A (p.Ala1043Glu) c.3487C>A (p.Gln1163Lys) c.3463C>A (p.Gln1155Lys) c.3460C>A (p.Gln1154Lys) c.3388C>A (p.Gln1130Lys) c.3373C>A (p.Gln1125Lys) c.3298C>A (p.Gln1100Lys) | gnomAD v4 |
1 | g.16986260_16986263del | CA999085020 | ATP13A2 | c.3502_3505del (p.Glu1168SerfsTer11) c.3200_3203del (p.Arg1067GlnfsTer13) c.3487_3490del (p.Glu1163SerfsTer11) n.1548_1551del c.920_923del (p.Arg307GlnfsTer13) c.3332_3335del (p.Arg1111GlnfsTer13) c.3329_3332del (p.Arg1110GlnfsTer13) c.3317_3320del (p.Arg1106GlnfsTer13) c.3305_3308del (p.Arg1102GlnfsTer13) c.3272_3275del (p.Arg1091GlnfsTer13) c.3215_3218del (p.Arg1072GlnfsTer13) c.3314_3317del (p.Arg1105GlnfsTer13) c.3290_3293del (p.Arg1097GlnfsTer13) c.3125_3128del (p.Arg1042GlnfsTer13) c.3484_3487del (p.Glu1162SerfsTer11) c.3460_3463del (p.Glu1154SerfsTer11) c.3457_3460del (p.Glu1153SerfsTer11) c.3385_3388del (p.Glu1129SerfsTer11) c.3370_3373del (p.Glu1124SerfsTer11) c.3295_3298del (p.Glu1099SerfsTer11) | gnomAD v3 gnomAD v4 |
1 | g.16986260C>A | CA338232142 | ATP13A2 | c.3504G>T (p.Glu1168Asp) c.3202G>T (p.Ala1068Ser) c.3489G>T (p.Glu1163Asp) n.1550G>T c.922G>T (p.Ala308Ser) c.3334G>T (p.Ala1112Ser) c.3331G>T (p.Ala1111Ser) c.3319G>T (p.Ala1107Ser) c.3307G>T (p.Ala1103Ser) c.3274G>T (p.Ala1092Ser) c.3217G>T (p.Ala1073Ser) c.3316G>T (p.Ala1106Ser) c.3292G>T (p.Ala1098Ser) c.3127G>T (p.Ala1043Ser) c.3486G>T (p.Glu1162Asp) c.3462G>T (p.Glu1154Asp) c.3459G>T (p.Glu1153Asp) c.3387G>T (p.Glu1129Asp) c.3372G>T (p.Glu1124Asp) c.3297G>T (p.Glu1099Asp) | |
1 | g.16986260C>G | CA338232148 | ATP13A2 | c.3504G>C (p.Glu1168Asp) c.3202G>C (p.Ala1068Pro) c.3489G>C (p.Glu1163Asp) n.1550G>C c.922G>C (p.Ala308Pro) c.3334G>C (p.Ala1112Pro) c.3331G>C (p.Ala1111Pro) c.3319G>C (p.Ala1107Pro) c.3307G>C (p.Ala1103Pro) c.3274G>C (p.Ala1092Pro) c.3217G>C (p.Ala1073Pro) c.3316G>C (p.Ala1106Pro) c.3292G>C (p.Ala1098Pro) c.3127G>C (p.Ala1043Pro) c.3486G>C (p.Glu1162Asp) c.3462G>C (p.Glu1154Asp) c.3459G>C (p.Glu1153Asp) c.3387G>C (p.Glu1129Asp) c.3372G>C (p.Glu1124Asp) c.3297G>C (p.Glu1099Asp) | |
1 | g.16986260C>T | CA338232152 | ATP13A2 | c.3504G>A (p.Glu1168=) c.3202G>A (p.Ala1068Thr) c.3489G>A (p.Glu1163=) n.1550G>A c.922G>A (p.Ala308Thr) c.3334G>A (p.Ala1112Thr) c.3331G>A (p.Ala1111Thr) c.3319G>A (p.Ala1107Thr) c.3307G>A (p.Ala1103Thr) c.3274G>A (p.Ala1092Thr) c.3217G>A (p.Ala1073Thr) c.3316G>A (p.Ala1106Thr) c.3292G>A (p.Ala1098Thr) c.3127G>A (p.Ala1043Thr) c.3486G>A (p.Glu1162=) c.3462G>A (p.Glu1154=) c.3459G>A (p.Glu1153=) c.3387G>A (p.Glu1129=) c.3372G>A (p.Glu1124=) c.3297G>A (p.Glu1099=) | |
1 | g.16986261T>A | CA636465 | ATP13A2 | c.3503A>T (p.Glu1168Val) c.3201A>T (p.Arg1067=) c.3488A>T (p.Glu1163Val) n.1549A>T c.921A>T (p.Arg307=) c.3333A>T (p.Arg1111=) c.3330A>T (p.Arg1110=) c.3318A>T (p.Arg1106=) c.3306A>T (p.Arg1102=) c.3273A>T (p.Arg1091=) c.3216A>T (p.Arg1072=) c.3315A>T (p.Arg1105=) c.3291A>T (p.Arg1097=) c.3126A>T (p.Arg1042=) c.3485A>T (p.Glu1162Val) c.3461A>T (p.Glu1154Val) c.3458A>T (p.Glu1153Val) c.3386A>T (p.Glu1129Val) c.3371A>T (p.Glu1124Val) c.3296A>T (p.Glu1099Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986261T>C | CA338232156 | ATP13A2 | c.3503A>G (p.Glu1168Gly) c.3201A>G (p.Arg1067=) c.3488A>G (p.Glu1163Gly) n.1549A>G c.921A>G (p.Arg307=) c.3333A>G (p.Arg1111=) c.3330A>G (p.Arg1110=) c.3318A>G (p.Arg1106=) c.3306A>G (p.Arg1102=) c.3273A>G (p.Arg1091=) c.3216A>G (p.Arg1072=) c.3315A>G (p.Arg1105=) c.3291A>G (p.Arg1097=) c.3126A>G (p.Arg1042=) c.3485A>G (p.Glu1162Gly) c.3461A>G (p.Glu1154Gly) c.3458A>G (p.Glu1153Gly) c.3386A>G (p.Glu1129Gly) c.3371A>G (p.Glu1124Gly) c.3296A>G (p.Glu1099Gly) | |
1 | g.16986261T>G | CA338232158 | ATP13A2 | c.3503A>C (p.Glu1168Ala) c.3201A>C (p.Arg1067=) c.3488A>C (p.Glu1163Ala) n.1549A>C c.921A>C (p.Arg307=) c.3333A>C (p.Arg1111=) c.3330A>C (p.Arg1110=) c.3318A>C (p.Arg1106=) c.3306A>C (p.Arg1102=) c.3273A>C (p.Arg1091=) c.3216A>C (p.Arg1072=) c.3315A>C (p.Arg1105=) c.3291A>C (p.Arg1097=) c.3126A>C (p.Arg1042=) c.3485A>C (p.Glu1162Ala) c.3461A>C (p.Glu1154Ala) c.3458A>C (p.Glu1153Ala) c.3386A>C (p.Glu1129Ala) c.3371A>C (p.Glu1124Ala) c.3296A>C (p.Glu1099Ala) | |
1 | g.16986261T= | CA1156049363 | ATP13A2 | c.3503A= (p.Glu1168=) c.3201A= (p.Arg1067=) c.3488A= (p.Glu1163=) n.1549A= c.921A= (p.Arg307=) c.3333A= (p.Arg1111=) c.3330A= (p.Arg1110=) c.3318A= (p.Arg1106=) c.3306A= (p.Arg1102=) c.3273A= (p.Arg1091=) c.3216A= (p.Arg1072=) c.3315A= (p.Arg1105=) c.3291A= (p.Arg1097=) c.3126A= (p.Arg1042=) c.3485A= (p.Glu1162=) c.3461A= (p.Glu1154=) c.3458A= (p.Glu1153=) c.3386A= (p.Glu1129=) c.3371A= (p.Glu1124=) c.3296A= (p.Glu1099=) | |
1 | g.16986262C>A | CA338232160 | ATP13A2 | c.3502G>T (p.Glu1168Ter) c.3200G>T (p.Arg1067Leu) c.3487G>T (p.Glu1163Ter) n.1548G>T c.920G>T (p.Arg307Leu) c.3332G>T (p.Arg1111Leu) c.3329G>T (p.Arg1110Leu) c.3317G>T (p.Arg1106Leu) c.3305G>T (p.Arg1102Leu) c.3272G>T (p.Arg1091Leu) c.3215G>T (p.Arg1072Leu) c.3314G>T (p.Arg1105Leu) c.3290G>T (p.Arg1097Leu) c.3125G>T (p.Arg1042Leu) c.3484G>T (p.Glu1162Ter) c.3460G>T (p.Glu1154Ter) c.3457G>T (p.Glu1153Ter) c.3385G>T (p.Glu1129Ter) c.3370G>T (p.Glu1124Ter) c.3295G>T (p.Glu1099Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986262C= | CA1156049368 | ATP13A2 | c.3502G= (p.Glu1168=) c.3200G= (p.Arg1067=) c.3487G= (p.Glu1163=) n.1548G= c.920G= (p.Arg307=) c.3332G= (p.Arg1111=) c.3329G= (p.Arg1110=) c.3317G= (p.Arg1106=) c.3305G= (p.Arg1102=) c.3272G= (p.Arg1091=) c.3215G= (p.Arg1072=) c.3314G= (p.Arg1105=) c.3290G= (p.Arg1097=) c.3125G= (p.Arg1042=) c.3484G= (p.Glu1162=) c.3460G= (p.Glu1154=) c.3457G= (p.Glu1153=) c.3385G= (p.Glu1129=) c.3370G= (p.Glu1124=) c.3295G= (p.Glu1099=) | |
1 | g.16986262C>G | CA338232166 | ATP13A2 | c.3502G>C (p.Glu1168Gln) c.3200G>C (p.Arg1067Pro) c.3487G>C (p.Glu1163Gln) n.1548G>C c.920G>C (p.Arg307Pro) c.3332G>C (p.Arg1111Pro) c.3329G>C (p.Arg1110Pro) c.3317G>C (p.Arg1106Pro) c.3305G>C (p.Arg1102Pro) c.3272G>C (p.Arg1091Pro) c.3215G>C (p.Arg1072Pro) c.3314G>C (p.Arg1105Pro) c.3290G>C (p.Arg1097Pro) c.3125G>C (p.Arg1042Pro) c.3484G>C (p.Glu1162Gln) c.3460G>C (p.Glu1154Gln) c.3457G>C (p.Glu1153Gln) c.3385G>C (p.Glu1129Gln) c.3370G>C (p.Glu1124Gln) c.3295G>C (p.Glu1099Gln) | |
1 | g.16986262C>T | CA338232165 | ATP13A2 | c.3502G>A (p.Glu1168Lys) c.3200G>A (p.Arg1067Gln) c.3487G>A (p.Glu1163Lys) n.1548G>A c.920G>A (p.Arg307Gln) c.3332G>A (p.Arg1111Gln) c.3329G>A (p.Arg1110Gln) c.3317G>A (p.Arg1106Gln) c.3305G>A (p.Arg1102Gln) c.3272G>A (p.Arg1091Gln) c.3215G>A (p.Arg1072Gln) c.3314G>A (p.Arg1105Gln) c.3290G>A (p.Arg1097Gln) c.3125G>A (p.Arg1042Gln) c.3484G>A (p.Glu1162Lys) c.3460G>A (p.Glu1154Lys) c.3457G>A (p.Glu1153Lys) c.3385G>A (p.Glu1129Lys) c.3370G>A (p.Glu1124Lys) c.3295G>A (p.Glu1099Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986263G>A | CA636466 | ATP13A2 | c.3501C>T (p.Ala1167=) c.3199C>T (p.Arg1067Ter) c.3486C>T (p.Ala1162=) n.1547C>T c.919C>T (p.Arg307Ter) c.3331C>T (p.Arg1111Ter) c.3328C>T (p.Arg1110Ter) c.3316C>T (p.Arg1106Ter) c.3304C>T (p.Arg1102Ter) c.3271C>T (p.Arg1091Ter) c.3214C>T (p.Arg1072Ter) c.3313C>T (p.Arg1105Ter) c.3289C>T (p.Arg1097Ter) c.3124C>T (p.Arg1042Ter) c.3483C>T (p.Ala1161=) c.3459C>T (p.Ala1153=) c.3456C>T (p.Ala1152=) c.3384C>T (p.Ala1128=) c.3369C>T (p.Ala1123=) c.3294C>T (p.Ala1098=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986263G>C | CA636467 | ATP13A2 | c.3501C>G (p.Ala1167=) c.3199C>G (p.Arg1067Gly) c.3486C>G (p.Ala1162=) n.1547C>G c.919C>G (p.Arg307Gly) c.3331C>G (p.Arg1111Gly) c.3328C>G (p.Arg1110Gly) c.3316C>G (p.Arg1106Gly) c.3304C>G (p.Arg1102Gly) c.3271C>G (p.Arg1091Gly) c.3214C>G (p.Arg1072Gly) c.3313C>G (p.Arg1105Gly) c.3289C>G (p.Arg1097Gly) c.3124C>G (p.Arg1042Gly) c.3483C>G (p.Ala1161=) c.3459C>G (p.Ala1153=) c.3456C>G (p.Ala1152=) c.3384C>G (p.Ala1128=) c.3369C>G (p.Ala1123=) c.3294C>G (p.Ala1098=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986263G= | CA1156049372 | ATP13A2 | c.3501C= (p.Ala1167=) c.3199C= (p.Arg1067=) c.3486C= (p.Ala1162=) n.1547C= c.919C= (p.Arg307=) c.3331C= (p.Arg1111=) c.3328C= (p.Arg1110=) c.3316C= (p.Arg1106=) c.3304C= (p.Arg1102=) c.3271C= (p.Arg1091=) c.3214C= (p.Arg1072=) c.3313C= (p.Arg1105=) c.3289C= (p.Arg1097=) c.3124C= (p.Arg1042=) c.3483C= (p.Ala1161=) c.3459C= (p.Ala1153=) c.3456C= (p.Ala1152=) c.3384C= (p.Ala1128=) c.3369C= (p.Ala1123=) c.3294C= (p.Ala1098=) | |
1 | g.16986263G>T | CA416093524 | ATP13A2 | c.3501C>A (p.Ala1167=) c.3199C>A (p.Arg1067=) c.3486C>A (p.Ala1162=) n.1547C>A c.919C>A (p.Arg307=) c.3331C>A (p.Arg1111=) c.3328C>A (p.Arg1110=) c.3316C>A (p.Arg1106=) c.3304C>A (p.Arg1102=) c.3271C>A (p.Arg1091=) c.3214C>A (p.Arg1072=) c.3313C>A (p.Arg1105=) c.3289C>A (p.Arg1097=) c.3124C>A (p.Arg1042=) c.3483C>A (p.Ala1161=) c.3459C>A (p.Ala1153=) c.3456C>A (p.Ala1152=) c.3384C>A (p.Ala1128=) c.3369C>A (p.Ala1123=) c.3294C>A (p.Ala1098=) | gnomAD v4 |
1 | g.16986264G>A | CA338232173 | ATP13A2 | c.3500C>T (p.Ala1167Val) c.3198C>T (p.Gly1066=) c.3485C>T (p.Ala1162Val) n.1546C>T c.918C>T (p.Gly306=) c.3330C>T (p.Gly1110=) c.3327C>T (p.Gly1109=) c.3315C>T (p.Gly1105=) c.3303C>T (p.Gly1101=) c.3270C>T (p.Gly1090=) c.3213C>T (p.Gly1071=) c.3312C>T (p.Gly1104=) c.3288C>T (p.Gly1096=) c.3123C>T (p.Gly1041=) c.3482C>T (p.Ala1161Val) c.3458C>T (p.Ala1153Val) c.3455C>T (p.Ala1152Val) c.3383C>T (p.Ala1128Val) c.3368C>T (p.Ala1123Val) c.3293C>T (p.Ala1098Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986264G>C | CA338232174 | ATP13A2 | c.3500C>G (p.Ala1167Gly) c.3198C>G (p.Gly1066=) c.3485C>G (p.Ala1162Gly) n.1546C>G c.918C>G (p.Gly306=) c.3330C>G (p.Gly1110=) c.3327C>G (p.Gly1109=) c.3315C>G (p.Gly1105=) c.3303C>G (p.Gly1101=) c.3270C>G (p.Gly1090=) c.3213C>G (p.Gly1071=) c.3312C>G (p.Gly1104=) c.3288C>G (p.Gly1096=) c.3123C>G (p.Gly1041=) c.3482C>G (p.Ala1161Gly) c.3458C>G (p.Ala1153Gly) c.3455C>G (p.Ala1152Gly) c.3383C>G (p.Ala1128Gly) c.3368C>G (p.Ala1123Gly) c.3293C>G (p.Ala1098Gly) | |
1 | g.16986264G= | CA1156049376 | ATP13A2 | c.3500C= (p.Ala1167=) c.3198C= (p.Gly1066=) c.3485C= (p.Ala1162=) n.1546C= c.918C= (p.Gly306=) c.3330C= (p.Gly1110=) c.3327C= (p.Gly1109=) c.3315C= (p.Gly1105=) c.3303C= (p.Gly1101=) c.3270C= (p.Gly1090=) c.3213C= (p.Gly1071=) c.3312C= (p.Gly1104=) c.3288C= (p.Gly1096=) c.3123C= (p.Gly1041=) c.3482C= (p.Ala1161=) c.3458C= (p.Ala1153=) c.3455C= (p.Ala1152=) c.3383C= (p.Ala1128=) c.3368C= (p.Ala1123=) c.3293C= (p.Ala1098=) | |
1 | g.16986264G>T | CA338232175 | ATP13A2 | c.3500C>A (p.Ala1167Asp) c.3198C>A (p.Gly1066=) c.3485C>A (p.Ala1162Asp) n.1546C>A c.918C>A (p.Gly306=) c.3330C>A (p.Gly1110=) c.3327C>A (p.Gly1109=) c.3315C>A (p.Gly1105=) c.3303C>A (p.Gly1101=) c.3270C>A (p.Gly1090=) c.3213C>A (p.Gly1071=) c.3312C>A (p.Gly1104=) c.3288C>A (p.Gly1096=) c.3123C>A (p.Gly1041=) c.3482C>A (p.Ala1161Asp) c.3458C>A (p.Ala1153Asp) c.3455C>A (p.Ala1152Asp) c.3383C>A (p.Ala1128Asp) c.3368C>A (p.Ala1123Asp) c.3293C>A (p.Ala1098Asp) | gnomAD v4 |
1 | g.16986265C>A | CA338232176 | ATP13A2 | c.3499G>T (p.Ala1167Ser) c.3197G>T (p.Gly1066Val) c.3484G>T (p.Ala1162Ser) n.1545G>T c.917G>T (p.Gly306Val) c.3329G>T (p.Gly1110Val) c.3326G>T (p.Gly1109Val) c.3314G>T (p.Gly1105Val) c.3302G>T (p.Gly1101Val) c.3269G>T (p.Gly1090Val) c.3212G>T (p.Gly1071Val) c.3311G>T (p.Gly1104Val) c.3287G>T (p.Gly1096Val) c.3122G>T (p.Gly1041Val) c.3481G>T (p.Ala1161Ser) c.3457G>T (p.Ala1153Ser) c.3454G>T (p.Ala1152Ser) c.3382G>T (p.Ala1128Ser) c.3367G>T (p.Ala1123Ser) c.3292G>T (p.Ala1098Ser) | |
1 | g.16986265C= | CA1156049381 | ATP13A2 | c.3499G= (p.Ala1167=) c.3197G= (p.Gly1066=) c.3484G= (p.Ala1162=) n.1545G= c.917G= (p.Gly306=) c.3329G= (p.Gly1110=) c.3326G= (p.Gly1109=) c.3314G= (p.Gly1105=) c.3302G= (p.Gly1101=) c.3269G= (p.Gly1090=) c.3212G= (p.Gly1071=) c.3311G= (p.Gly1104=) c.3287G= (p.Gly1096=) c.3122G= (p.Gly1041=) c.3481G= (p.Ala1161=) c.3457G= (p.Ala1153=) c.3454G= (p.Ala1152=) c.3382G= (p.Ala1128=) c.3367G= (p.Ala1123=) c.3292G= (p.Ala1098=) | |
1 | g.16986265C>G | CA338232177 | ATP13A2 | c.3499G>C (p.Ala1167Pro) c.3197G>C (p.Gly1066Ala) c.3484G>C (p.Ala1162Pro) n.1545G>C c.917G>C (p.Gly306Ala) c.3329G>C (p.Gly1110Ala) c.3326G>C (p.Gly1109Ala) c.3314G>C (p.Gly1105Ala) c.3302G>C (p.Gly1101Ala) c.3269G>C (p.Gly1090Ala) c.3212G>C (p.Gly1071Ala) c.3311G>C (p.Gly1104Ala) c.3287G>C (p.Gly1096Ala) c.3122G>C (p.Gly1041Ala) c.3481G>C (p.Ala1161Pro) c.3457G>C (p.Ala1153Pro) c.3454G>C (p.Ala1152Pro) c.3382G>C (p.Ala1128Pro) c.3367G>C (p.Ala1123Pro) c.3292G>C (p.Ala1098Pro) | |
1 | g.16986265C>T | CA338232178 | ATP13A2 | c.3499G>A (p.Ala1167Thr) c.3197G>A (p.Gly1066Asp) c.3484G>A (p.Ala1162Thr) n.1545G>A c.917G>A (p.Gly306Asp) c.3329G>A (p.Gly1110Asp) c.3326G>A (p.Gly1109Asp) c.3314G>A (p.Gly1105Asp) c.3302G>A (p.Gly1101Asp) c.3269G>A (p.Gly1090Asp) c.3212G>A (p.Gly1071Asp) c.3311G>A (p.Gly1104Asp) c.3287G>A (p.Gly1096Asp) c.3122G>A (p.Gly1041Asp) c.3481G>A (p.Ala1161Thr) c.3457G>A (p.Ala1153Thr) c.3454G>A (p.Ala1152Thr) c.3382G>A (p.Ala1128Thr) c.3367G>A (p.Ala1123Thr) c.3292G>A (p.Ala1098Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986266C>A | CA338232180 | ATP13A2 | c.3498G>T (p.Leu1166=) c.3196G>T (p.Gly1066Cys) c.3483G>T (p.Leu1161=) n.1544G>T c.916G>T (p.Gly306Cys) c.3328G>T (p.Gly1110Cys) c.3325G>T (p.Gly1109Cys) c.3313G>T (p.Gly1105Cys) c.3301G>T (p.Gly1101Cys) c.3268G>T (p.Gly1090Cys) c.3211G>T (p.Gly1071Cys) c.3310G>T (p.Gly1104Cys) c.3286G>T (p.Gly1096Cys) c.3121G>T (p.Gly1041Cys) c.3480G>T (p.Leu1160=) c.3456G>T (p.Leu1152=) c.3453G>T (p.Leu1151=) c.3381G>T (p.Leu1127=) c.3366G>T (p.Leu1122=) c.3291G>T (p.Leu1097=) | |
1 | g.16986266C>G | CA338232182 | ATP13A2 | c.3498G>C (p.Leu1166=) c.3196G>C (p.Gly1066Arg) c.3483G>C (p.Leu1161=) n.1544G>C c.916G>C (p.Gly306Arg) c.3328G>C (p.Gly1110Arg) c.3325G>C (p.Gly1109Arg) c.3313G>C (p.Gly1105Arg) c.3301G>C (p.Gly1101Arg) c.3268G>C (p.Gly1090Arg) c.3211G>C (p.Gly1071Arg) c.3310G>C (p.Gly1104Arg) c.3286G>C (p.Gly1096Arg) c.3121G>C (p.Gly1041Arg) c.3480G>C (p.Leu1160=) c.3456G>C (p.Leu1152=) c.3453G>C (p.Leu1151=) c.3381G>C (p.Leu1127=) c.3366G>C (p.Leu1122=) c.3291G>C (p.Leu1097=) | |
1 | g.16986266C>T | CA338232183 | ATP13A2 | c.3498G>A (p.Leu1166=) c.3196G>A (p.Gly1066Ser) c.3483G>A (p.Leu1161=) n.1544G>A c.916G>A (p.Gly306Ser) c.3328G>A (p.Gly1110Ser) c.3325G>A (p.Gly1109Ser) c.3313G>A (p.Gly1105Ser) c.3301G>A (p.Gly1101Ser) c.3268G>A (p.Gly1090Ser) c.3211G>A (p.Gly1071Ser) c.3310G>A (p.Gly1104Ser) c.3286G>A (p.Gly1096Ser) c.3121G>A (p.Gly1041Ser) c.3480G>A (p.Leu1160=) c.3456G>A (p.Leu1152=) c.3453G>A (p.Leu1151=) c.3381G>A (p.Leu1127=) c.3366G>A (p.Leu1122=) c.3291G>A (p.Leu1097=) | |
1 | g.16986267A>C | CA338232188 | ATP13A2 | c.3497T>G (p.Leu1166Arg) c.3195T>G (p.Ala1065=) c.3482T>G (p.Leu1161Arg) n.1543T>G c.915T>G (p.Ala305=) c.3327T>G (p.Ala1109=) c.3324T>G (p.Ala1108=) c.3312T>G (p.Ala1104=) c.3300T>G (p.Ala1100=) c.3267T>G (p.Ala1089=) c.3210T>G (p.Ala1070=) c.3309T>G (p.Ala1103=) c.3285T>G (p.Ala1095=) c.3120T>G (p.Ala1040=) c.3479T>G (p.Leu1160Arg) c.3455T>G (p.Leu1152Arg) c.3452T>G (p.Leu1151Arg) c.3380T>G (p.Leu1127Arg) c.3365T>G (p.Leu1122Arg) c.3290T>G (p.Leu1097Arg) | |
1 | g.16986267A>G | CA338232187 | ATP13A2 | c.3497T>C (p.Leu1166Pro) c.3195T>C (p.Ala1065=) c.3482T>C (p.Leu1161Pro) n.1543T>C c.915T>C (p.Ala305=) c.3327T>C (p.Ala1109=) c.3324T>C (p.Ala1108=) c.3312T>C (p.Ala1104=) c.3300T>C (p.Ala1100=) c.3267T>C (p.Ala1089=) c.3210T>C (p.Ala1070=) c.3309T>C (p.Ala1103=) c.3285T>C (p.Ala1095=) c.3120T>C (p.Ala1040=) c.3479T>C (p.Leu1160Pro) c.3455T>C (p.Leu1152Pro) c.3452T>C (p.Leu1151Pro) c.3380T>C (p.Leu1127Pro) c.3365T>C (p.Leu1122Pro) c.3290T>C (p.Leu1097Pro) | gnomAD v4 |
1 | g.16986267A>T | CA338232185 | ATP13A2 | c.3497T>A (p.Leu1166Gln) c.3195T>A (p.Ala1065=) c.3482T>A (p.Leu1161Gln) n.1543T>A c.915T>A (p.Ala305=) c.3327T>A (p.Ala1109=) c.3324T>A (p.Ala1108=) c.3312T>A (p.Ala1104=) c.3300T>A (p.Ala1100=) c.3267T>A (p.Ala1089=) c.3210T>A (p.Ala1070=) c.3309T>A (p.Ala1103=) c.3285T>A (p.Ala1095=) c.3120T>A (p.Ala1040=) c.3479T>A (p.Leu1160Gln) c.3455T>A (p.Leu1152Gln) c.3452T>A (p.Leu1151Gln) c.3380T>A (p.Leu1127Gln) c.3365T>A (p.Leu1122Gln) c.3290T>A (p.Leu1097Gln) | |
1 | g.16986268G>A | CA338232189 | ATP13A2 | c.3496C>T (p.Leu1166=) c.3194C>T (p.Ala1065Val) c.3481C>T (p.Leu1161=) n.1542C>T c.914C>T (p.Ala305Val) c.3326C>T (p.Ala1109Val) c.3323C>T (p.Ala1108Val) c.3311C>T (p.Ala1104Val) c.3299C>T (p.Ala1100Val) c.3266C>T (p.Ala1089Val) c.3209C>T (p.Ala1070Val) c.3308C>T (p.Ala1103Val) c.3284C>T (p.Ala1095Val) c.3119C>T (p.Ala1040Val) c.3478C>T (p.Leu1160=) c.3454C>T (p.Leu1152=) c.3451C>T (p.Leu1151=) c.3379C>T (p.Leu1127=) c.3364C>T (p.Leu1122=) c.3289C>T (p.Leu1097=) | gnomAD v4 |
1 | g.16986268G>C | CA636468 | ATP13A2 | c.3496C>G (p.Leu1166Val) c.3194C>G (p.Ala1065Gly) c.3481C>G (p.Leu1161Val) n.1542C>G c.914C>G (p.Ala305Gly) c.3326C>G (p.Ala1109Gly) c.3323C>G (p.Ala1108Gly) c.3311C>G (p.Ala1104Gly) c.3299C>G (p.Ala1100Gly) c.3266C>G (p.Ala1089Gly) c.3209C>G (p.Ala1070Gly) c.3308C>G (p.Ala1103Gly) c.3284C>G (p.Ala1095Gly) c.3119C>G (p.Ala1040Gly) c.3478C>G (p.Leu1160Val) c.3454C>G (p.Leu1152Val) c.3451C>G (p.Leu1151Val) c.3379C>G (p.Leu1127Val) c.3364C>G (p.Leu1122Val) c.3289C>G (p.Leu1097Val) | dbSNP ExAC gnomAD v2 |
1 | g.16986268G= | CA1143662222 | ATP13A2 | c.3496C= (p.Leu1166=) c.3194C= (p.Ala1065=) c.3481C= (p.Leu1161=) n.1542C= c.914C= (p.Ala305=) c.3326C= (p.Ala1109=) c.3323C= (p.Ala1108=) c.3311C= (p.Ala1104=) c.3299C= (p.Ala1100=) c.3266C= (p.Ala1089=) c.3209C= (p.Ala1070=) c.3308C= (p.Ala1103=) c.3284C= (p.Ala1095=) c.3119C= (p.Ala1040=) c.3478C= (p.Leu1160=) c.3454C= (p.Leu1152=) c.3451C= (p.Leu1151=) c.3379C= (p.Leu1127=) c.3364C= (p.Leu1122=) c.3289C= (p.Leu1097=) | |
1 | g.16986268G>T | CA338232190 | ATP13A2 | c.3496C>A (p.Leu1166Met) c.3194C>A (p.Ala1065Asp) c.3481C>A (p.Leu1161Met) n.1542C>A c.914C>A (p.Ala305Asp) c.3326C>A (p.Ala1109Asp) c.3323C>A (p.Ala1108Asp) c.3311C>A (p.Ala1104Asp) c.3299C>A (p.Ala1100Asp) c.3266C>A (p.Ala1089Asp) c.3209C>A (p.Ala1070Asp) c.3308C>A (p.Ala1103Asp) c.3284C>A (p.Ala1095Asp) c.3119C>A (p.Ala1040Asp) c.3478C>A (p.Leu1160Met) c.3454C>A (p.Leu1152Met) c.3451C>A (p.Leu1151Met) c.3379C>A (p.Leu1127Met) c.3364C>A (p.Leu1122Met) c.3289C>A (p.Leu1097Met) | gnomAD v4 |
1 | g.16986269C>A | CA338232191 | ATP13A2 | c.3495G>T (p.Glu1165Asp) c.3193G>T (p.Ala1065Ser) c.3480G>T (p.Glu1160Asp) n.1541G>T c.913G>T (p.Ala305Ser) c.3325G>T (p.Ala1109Ser) c.3322G>T (p.Ala1108Ser) c.3310G>T (p.Ala1104Ser) c.3298G>T (p.Ala1100Ser) c.3265G>T (p.Ala1089Ser) c.3208G>T (p.Ala1070Ser) c.3307G>T (p.Ala1103Ser) c.3283G>T (p.Ala1095Ser) c.3118G>T (p.Ala1040Ser) c.3477G>T (p.Glu1159Asp) c.3453G>T (p.Glu1151Asp) c.3450G>T (p.Glu1150Asp) c.3378G>T (p.Glu1126Asp) c.3363G>T (p.Glu1121Asp) c.3288G>T (p.Glu1096Asp) | |
1 | g.16986269C= | CA1156049388 | ATP13A2 | c.3495G= (p.Glu1165=) c.3193G= (p.Ala1065=) c.3480G= (p.Glu1160=) n.1541G= c.913G= (p.Ala305=) c.3325G= (p.Ala1109=) c.3322G= (p.Ala1108=) c.3310G= (p.Ala1104=) c.3298G= (p.Ala1100=) c.3265G= (p.Ala1089=) c.3208G= (p.Ala1070=) c.3307G= (p.Ala1103=) c.3283G= (p.Ala1095=) c.3118G= (p.Ala1040=) c.3477G= (p.Glu1159=) c.3453G= (p.Glu1151=) c.3450G= (p.Glu1150=) c.3378G= (p.Glu1126=) c.3363G= (p.Glu1121=) c.3288G= (p.Glu1096=) | |
1 | g.16986269C>G | CA338232194 | ATP13A2 | c.3495G>C (p.Glu1165Asp) c.3193G>C (p.Ala1065Pro) c.3480G>C (p.Glu1160Asp) n.1541G>C c.913G>C (p.Ala305Pro) c.3325G>C (p.Ala1109Pro) c.3322G>C (p.Ala1108Pro) c.3310G>C (p.Ala1104Pro) c.3298G>C (p.Ala1100Pro) c.3265G>C (p.Ala1089Pro) c.3208G>C (p.Ala1070Pro) c.3307G>C (p.Ala1103Pro) c.3283G>C (p.Ala1095Pro) c.3118G>C (p.Ala1040Pro) c.3477G>C (p.Glu1159Asp) c.3453G>C (p.Glu1151Asp) c.3450G>C (p.Glu1150Asp) c.3378G>C (p.Glu1126Asp) c.3363G>C (p.Glu1121Asp) c.3288G>C (p.Glu1096Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986269C>T | CA338232195 | ATP13A2 | c.3495G>A (p.Glu1165=) c.3193G>A (p.Ala1065Thr) c.3480G>A (p.Glu1160=) n.1541G>A c.913G>A (p.Ala305Thr) c.3325G>A (p.Ala1109Thr) c.3322G>A (p.Ala1108Thr) c.3310G>A (p.Ala1104Thr) c.3298G>A (p.Ala1100Thr) c.3265G>A (p.Ala1089Thr) c.3208G>A (p.Ala1070Thr) c.3307G>A (p.Ala1103Thr) c.3283G>A (p.Ala1095Thr) c.3118G>A (p.Ala1040Thr) c.3477G>A (p.Glu1159=) c.3453G>A (p.Glu1151=) c.3450G>A (p.Glu1150=) c.3378G>A (p.Glu1126=) c.3363G>A (p.Glu1121=) c.3288G>A (p.Glu1096=) | |
1 | g.16986270T>A | CA338232196 | ATP13A2 | c.3494A>T (p.Glu1165Val) c.3192A>T (p.Arg1064Ser) c.3479A>T (p.Glu1160Val) n.1540A>T c.912A>T (p.Arg304Ser) c.3324A>T (p.Arg1108Ser) c.3321A>T (p.Arg1107Ser) c.3309A>T (p.Arg1103Ser) c.3297A>T (p.Arg1099Ser) c.3264A>T (p.Arg1088Ser) c.3207A>T (p.Arg1069Ser) c.3306A>T (p.Arg1102Ser) c.3282A>T (p.Arg1094Ser) c.3117A>T (p.Arg1039Ser) c.3476A>T (p.Glu1159Val) c.3452A>T (p.Glu1151Val) c.3449A>T (p.Glu1150Val) c.3377A>T (p.Glu1126Val) c.3362A>T (p.Glu1121Val) c.3287A>T (p.Glu1096Val) | |
1 | g.16986270T>C | CA338232197 | ATP13A2 | c.3494A>G (p.Glu1165Gly) c.3192A>G (p.Arg1064=) c.3479A>G (p.Glu1160Gly) n.1540A>G c.912A>G (p.Arg304=) c.3324A>G (p.Arg1108=) c.3321A>G (p.Arg1107=) c.3309A>G (p.Arg1103=) c.3297A>G (p.Arg1099=) c.3264A>G (p.Arg1088=) c.3207A>G (p.Arg1069=) c.3306A>G (p.Arg1102=) c.3282A>G (p.Arg1094=) c.3117A>G (p.Arg1039=) c.3476A>G (p.Glu1159Gly) c.3452A>G (p.Glu1151Gly) c.3449A>G (p.Glu1150Gly) c.3377A>G (p.Glu1126Gly) c.3362A>G (p.Glu1121Gly) c.3287A>G (p.Glu1096Gly) | gnomAD v4 |
1 | g.16986270T>G | CA338232198 | ATP13A2 | c.3494A>C (p.Glu1165Ala) c.3192A>C (p.Arg1064Ser) c.3479A>C (p.Glu1160Ala) n.1540A>C c.912A>C (p.Arg304Ser) c.3324A>C (p.Arg1108Ser) c.3321A>C (p.Arg1107Ser) c.3309A>C (p.Arg1103Ser) c.3297A>C (p.Arg1099Ser) c.3264A>C (p.Arg1088Ser) c.3207A>C (p.Arg1069Ser) c.3306A>C (p.Arg1102Ser) c.3282A>C (p.Arg1094Ser) c.3117A>C (p.Arg1039Ser) c.3476A>C (p.Glu1159Ala) c.3452A>C (p.Glu1151Ala) c.3449A>C (p.Glu1150Ala) c.3377A>C (p.Glu1126Ala) c.3362A>C (p.Glu1121Ala) c.3287A>C (p.Glu1096Ala) | |
1 | g.16986271C>A | CA338232199 | ATP13A2 | c.3493G>T (p.Glu1165Ter) c.3191G>T (p.Arg1064Ile) c.3478G>T (p.Glu1160Ter) n.1539G>T c.911G>T (p.Arg304Ile) c.3323G>T (p.Arg1108Ile) c.3320G>T (p.Arg1107Ile) c.3308G>T (p.Arg1103Ile) c.3296G>T (p.Arg1099Ile) c.3263G>T (p.Arg1088Ile) c.3206G>T (p.Arg1069Ile) c.3305G>T (p.Arg1102Ile) c.3281G>T (p.Arg1094Ile) c.3116G>T (p.Arg1039Ile) c.3475G>T (p.Glu1159Ter) c.3451G>T (p.Glu1151Ter) c.3448G>T (p.Glu1150Ter) c.3376G>T (p.Glu1126Ter) c.3361G>T (p.Glu1121Ter) c.3286G>T (p.Glu1096Ter) | |
1 | g.16986271C= | CA1156049395 | ATP13A2 | c.3493G= (p.Glu1165=) c.3191G= (p.Arg1064=) c.3478G= (p.Glu1160=) n.1539G= c.911G= (p.Arg304=) c.3323G= (p.Arg1108=) c.3320G= (p.Arg1107=) c.3308G= (p.Arg1103=) c.3296G= (p.Arg1099=) c.3263G= (p.Arg1088=) c.3206G= (p.Arg1069=) c.3305G= (p.Arg1102=) c.3281G= (p.Arg1094=) c.3116G= (p.Arg1039=) c.3475G= (p.Glu1159=) c.3451G= (p.Glu1151=) c.3448G= (p.Glu1150=) c.3376G= (p.Glu1126=) c.3361G= (p.Glu1121=) c.3286G= (p.Glu1096=) | |
1 | g.16986271C>G | CA338232200 | ATP13A2 | c.3493G>C (p.Glu1165Gln) c.3191G>C (p.Arg1064Thr) c.3478G>C (p.Glu1160Gln) n.1539G>C c.911G>C (p.Arg304Thr) c.3323G>C (p.Arg1108Thr) c.3320G>C (p.Arg1107Thr) c.3308G>C (p.Arg1103Thr) c.3296G>C (p.Arg1099Thr) c.3263G>C (p.Arg1088Thr) c.3206G>C (p.Arg1069Thr) c.3305G>C (p.Arg1102Thr) c.3281G>C (p.Arg1094Thr) c.3116G>C (p.Arg1039Thr) c.3475G>C (p.Glu1159Gln) c.3451G>C (p.Glu1151Gln) c.3448G>C (p.Glu1150Gln) c.3376G>C (p.Glu1126Gln) c.3361G>C (p.Glu1121Gln) c.3286G>C (p.Glu1096Gln) | |
1 | g.16986271C>T | CA338232201 | ATP13A2 | c.3493G>A (p.Glu1165Lys) c.3191G>A (p.Arg1064Lys) c.3478G>A (p.Glu1160Lys) n.1539G>A c.911G>A (p.Arg304Lys) c.3323G>A (p.Arg1108Lys) c.3320G>A (p.Arg1107Lys) c.3308G>A (p.Arg1103Lys) c.3296G>A (p.Arg1099Lys) c.3263G>A (p.Arg1088Lys) c.3206G>A (p.Arg1069Lys) c.3305G>A (p.Arg1102Lys) c.3281G>A (p.Arg1094Lys) c.3116G>A (p.Arg1039Lys) c.3475G>A (p.Glu1159Lys) c.3451G>A (p.Glu1151Lys) c.3448G>A (p.Glu1150Lys) c.3376G>A (p.Glu1126Lys) c.3361G>A (p.Glu1121Lys) c.3286G>A (p.Glu1096Lys) | dbSNP gnomAD v2 |
1 | g.16986272T>A | CA338232205 | ATP13A2 | c.3492A>T (p.Arg1164=) c.3190A>T (p.Arg1064Ter) c.3477A>T (p.Arg1159=) n.1538A>T c.910A>T (p.Arg304Ter) c.3322A>T (p.Arg1108Ter) c.3319A>T (p.Arg1107Ter) c.3307A>T (p.Arg1103Ter) c.3295A>T (p.Arg1099Ter) c.3262A>T (p.Arg1088Ter) c.3205A>T (p.Arg1069Ter) c.3304A>T (p.Arg1102Ter) c.3280A>T (p.Arg1094Ter) c.3115A>T (p.Arg1039Ter) c.3474A>T (p.Arg1158=) c.3450A>T (p.Arg1150=) c.3447A>T (p.Arg1149=) c.3375A>T (p.Arg1125=) c.3360A>T (p.Arg1120=) c.3285A>T (p.Arg1095=) | |
1 | g.16986272T>C | CA338232202 | ATP13A2 | c.3492A>G (p.Arg1164=) c.3190A>G (p.Arg1064Gly) c.3477A>G (p.Arg1159=) n.1538A>G c.910A>G (p.Arg304Gly) c.3322A>G (p.Arg1108Gly) c.3319A>G (p.Arg1107Gly) c.3307A>G (p.Arg1103Gly) c.3295A>G (p.Arg1099Gly) c.3262A>G (p.Arg1088Gly) c.3205A>G (p.Arg1069Gly) c.3304A>G (p.Arg1102Gly) c.3280A>G (p.Arg1094Gly) c.3115A>G (p.Arg1039Gly) c.3474A>G (p.Arg1158=) c.3450A>G (p.Arg1150=) c.3447A>G (p.Arg1149=) c.3375A>G (p.Arg1125=) c.3360A>G (p.Arg1120=) c.3285A>G (p.Arg1095=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986272T>G | CA416093525 | ATP13A2 | c.3492A>C (p.Arg1164=) c.3190A>C (p.Arg1064=) c.3477A>C (p.Arg1159=) n.1538A>C c.910A>C (p.Arg304=) c.3322A>C (p.Arg1108=) c.3319A>C (p.Arg1107=) c.3307A>C (p.Arg1103=) c.3295A>C (p.Arg1099=) c.3262A>C (p.Arg1088=) c.3205A>C (p.Arg1069=) c.3304A>C (p.Arg1102=) c.3280A>C (p.Arg1094=) c.3115A>C (p.Arg1039=) c.3474A>C (p.Arg1158=) c.3450A>C (p.Arg1150=) c.3447A>C (p.Arg1149=) c.3375A>C (p.Arg1125=) c.3360A>C (p.Arg1120=) c.3285A>C (p.Arg1095=) | |
1 | g.16986272T= | CA1156049404 | ATP13A2 | c.3492A= (p.Arg1164=) c.3190A= (p.Arg1064=) c.3477A= (p.Arg1159=) n.1538A= c.910A= (p.Arg304=) c.3322A= (p.Arg1108=) c.3319A= (p.Arg1107=) c.3307A= (p.Arg1103=) c.3295A= (p.Arg1099=) c.3262A= (p.Arg1088=) c.3205A= (p.Arg1069=) c.3304A= (p.Arg1102=) c.3280A= (p.Arg1094=) c.3115A= (p.Arg1039=) c.3474A= (p.Arg1158=) c.3450A= (p.Arg1150=) c.3447A= (p.Arg1149=) c.3375A= (p.Arg1125=) c.3360A= (p.Arg1120=) c.3285A= (p.Arg1095=) | |
1 | g.16986273C>A | CA636469 | ATP13A2 | c.3491G>T (p.Arg1164Leu) c.3189G>T (p.Thr1063=) c.3476G>T (p.Arg1159Leu) n.1537G>T c.909G>T (p.Thr303=) c.3321G>T (p.Thr1107=) c.3318G>T (p.Thr1106=) c.3306G>T (p.Thr1102=) c.3294G>T (p.Thr1098=) c.3261G>T (p.Thr1087=) c.3204G>T (p.Thr1068=) c.3303G>T (p.Thr1101=) c.3279G>T (p.Thr1093=) c.3114G>T (p.Thr1038=) c.3473G>T (p.Arg1158Leu) c.3449G>T (p.Arg1150Leu) c.3446G>T (p.Arg1149Leu) c.3374G>T (p.Arg1125Leu) c.3359G>T (p.Arg1120Leu) c.3284G>T (p.Arg1095Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986273C= | CA1156049412 | ATP13A2 | c.3491G= (p.Arg1164=) c.3189G= (p.Thr1063=) c.3476G= (p.Arg1159=) n.1537G= c.909G= (p.Thr303=) c.3321G= (p.Thr1107=) c.3318G= (p.Thr1106=) c.3306G= (p.Thr1102=) c.3294G= (p.Thr1098=) c.3261G= (p.Thr1087=) c.3204G= (p.Thr1068=) c.3303G= (p.Thr1101=) c.3279G= (p.Thr1093=) c.3114G= (p.Thr1038=) c.3473G= (p.Arg1158=) c.3449G= (p.Arg1150=) c.3446G= (p.Arg1149=) c.3374G= (p.Arg1125=) c.3359G= (p.Arg1120=) c.3284G= (p.Arg1095=) | |
1 | g.16986273C>G | CA338232207 | ATP13A2 | c.3491G>C (p.Arg1164Pro) c.3189G>C (p.Thr1063=) c.3476G>C (p.Arg1159Pro) n.1537G>C c.909G>C (p.Thr303=) c.3321G>C (p.Thr1107=) c.3318G>C (p.Thr1106=) c.3306G>C (p.Thr1102=) c.3294G>C (p.Thr1098=) c.3261G>C (p.Thr1087=) c.3204G>C (p.Thr1068=) c.3303G>C (p.Thr1101=) c.3279G>C (p.Thr1093=) c.3114G>C (p.Thr1038=) c.3473G>C (p.Arg1158Pro) c.3449G>C (p.Arg1150Pro) c.3446G>C (p.Arg1149Pro) c.3374G>C (p.Arg1125Pro) c.3359G>C (p.Arg1120Pro) c.3284G>C (p.Arg1095Pro) | |
1 | g.16986273C>T | CA338232209 | ATP13A2 | c.3491G>A (p.Arg1164Gln) c.3189G>A (p.Thr1063=) c.3476G>A (p.Arg1159Gln) n.1537G>A c.909G>A (p.Thr303=) c.3321G>A (p.Thr1107=) c.3318G>A (p.Thr1106=) c.3306G>A (p.Thr1102=) c.3294G>A (p.Thr1098=) c.3261G>A (p.Thr1087=) c.3204G>A (p.Thr1068=) c.3303G>A (p.Thr1101=) c.3279G>A (p.Thr1093=) c.3114G>A (p.Thr1038=) c.3473G>A (p.Arg1158Gln) c.3449G>A (p.Arg1150Gln) c.3446G>A (p.Arg1149Gln) c.3374G>A (p.Arg1125Gln) c.3359G>A (p.Arg1120Gln) c.3284G>A (p.Arg1095Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986274G>A | CA18624671 | ATP13A2 | c.3490C>T (p.Arg1164Ter) c.3188C>T (p.Thr1063Met) c.3475C>T (p.Arg1159Ter) n.1536C>T c.908C>T (p.Thr303Met) c.3320C>T (p.Thr1107Met) c.3317C>T (p.Thr1106Met) c.3305C>T (p.Thr1102Met) c.3293C>T (p.Thr1098Met) c.3260C>T (p.Thr1087Met) c.3203C>T (p.Thr1068Met) c.3302C>T (p.Thr1101Met) c.3278C>T (p.Thr1093Met) c.3113C>T (p.Thr1038Met) c.3472C>T (p.Arg1158Ter) c.3448C>T (p.Arg1150Ter) c.3445C>T (p.Arg1149Ter) c.3373C>T (p.Arg1125Ter) c.3358C>T (p.Arg1120Ter) c.3283C>T (p.Arg1095Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986274G>C | CA338232211 | ATP13A2 | c.3490C>G (p.Arg1164Gly) c.3188C>G (p.Thr1063Arg) c.3475C>G (p.Arg1159Gly) n.1536C>G c.908C>G (p.Thr303Arg) c.3320C>G (p.Thr1107Arg) c.3317C>G (p.Thr1106Arg) c.3305C>G (p.Thr1102Arg) c.3293C>G (p.Thr1098Arg) c.3260C>G (p.Thr1087Arg) c.3203C>G (p.Thr1068Arg) c.3302C>G (p.Thr1101Arg) c.3278C>G (p.Thr1093Arg) c.3113C>G (p.Thr1038Arg) c.3472C>G (p.Arg1158Gly) c.3448C>G (p.Arg1150Gly) c.3445C>G (p.Arg1149Gly) c.3373C>G (p.Arg1125Gly) c.3358C>G (p.Arg1120Gly) c.3283C>G (p.Arg1095Gly) | gnomAD v4 |
1 | g.16986274G= | CA1143899420 | ATP13A2 | c.3490C= (p.Arg1164=) c.3188C= (p.Thr1063=) c.3475C= (p.Arg1159=) n.1536C= c.908C= (p.Thr303=) c.3320C= (p.Thr1107=) c.3317C= (p.Thr1106=) c.3305C= (p.Thr1102=) c.3293C= (p.Thr1098=) c.3260C= (p.Thr1087=) c.3203C= (p.Thr1068=) c.3302C= (p.Thr1101=) c.3278C= (p.Thr1093=) c.3113C= (p.Thr1038=) c.3472C= (p.Arg1158=) c.3448C= (p.Arg1150=) c.3445C= (p.Arg1149=) c.3373C= (p.Arg1125=) c.3358C= (p.Arg1120=) c.3283C= (p.Arg1095=) | |
1 | g.16986274G>T | CA636470 | ATP13A2 | c.3490C>A (p.Arg1164=) c.3188C>A (p.Thr1063Lys) c.3475C>A (p.Arg1159=) n.1536C>A c.908C>A (p.Thr303Lys) c.3320C>A (p.Thr1107Lys) c.3317C>A (p.Thr1106Lys) c.3305C>A (p.Thr1102Lys) c.3293C>A (p.Thr1098Lys) c.3260C>A (p.Thr1087Lys) c.3203C>A (p.Thr1068Lys) c.3302C>A (p.Thr1101Lys) c.3278C>A (p.Thr1093Lys) c.3113C>A (p.Thr1038Lys) c.3472C>A (p.Arg1158=) c.3448C>A (p.Arg1150=) c.3445C>A (p.Arg1149=) c.3373C>A (p.Arg1125=) c.3358C>A (p.Arg1120=) c.3283C>A (p.Arg1095=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986275T>A | CA338232216 | ATP13A2 | c.3489A>T (p.Glu1163Asp) c.3187A>T (p.Thr1063Ser) c.3474A>T (p.Glu1158Asp) n.1535A>T c.907A>T (p.Thr303Ser) c.3319A>T (p.Thr1107Ser) c.3316A>T (p.Thr1106Ser) c.3304A>T (p.Thr1102Ser) c.3292A>T (p.Thr1098Ser) c.3259A>T (p.Thr1087Ser) c.3202A>T (p.Thr1068Ser) c.3301A>T (p.Thr1101Ser) c.3277A>T (p.Thr1093Ser) c.3112A>T (p.Thr1038Ser) c.3471A>T (p.Glu1157Asp) c.3447A>T (p.Glu1149Asp) c.3444A>T (p.Glu1148Asp) c.3372A>T (p.Glu1124Asp) c.3357A>T (p.Glu1119Asp) c.3282A>T (p.Glu1094Asp) | |
1 | g.16986275T>C | CA338232214 | ATP13A2 | c.3489A>G (p.Glu1163=) c.3187A>G (p.Thr1063Ala) c.3474A>G (p.Glu1158=) n.1535A>G c.907A>G (p.Thr303Ala) c.3319A>G (p.Thr1107Ala) c.3316A>G (p.Thr1106Ala) c.3304A>G (p.Thr1102Ala) c.3292A>G (p.Thr1098Ala) c.3259A>G (p.Thr1087Ala) c.3202A>G (p.Thr1068Ala) c.3301A>G (p.Thr1101Ala) c.3277A>G (p.Thr1093Ala) c.3112A>G (p.Thr1038Ala) c.3471A>G (p.Glu1157=) c.3447A>G (p.Glu1149=) c.3444A>G (p.Glu1148=) c.3372A>G (p.Glu1124=) c.3357A>G (p.Glu1119=) c.3282A>G (p.Glu1094=) | |
1 | g.16986275T>G | CA338232212 | ATP13A2 | c.3489A>C (p.Glu1163Asp) c.3187A>C (p.Thr1063Pro) c.3474A>C (p.Glu1158Asp) n.1535A>C c.907A>C (p.Thr303Pro) c.3319A>C (p.Thr1107Pro) c.3316A>C (p.Thr1106Pro) c.3304A>C (p.Thr1102Pro) c.3292A>C (p.Thr1098Pro) c.3259A>C (p.Thr1087Pro) c.3202A>C (p.Thr1068Pro) c.3301A>C (p.Thr1101Pro) c.3277A>C (p.Thr1093Pro) c.3112A>C (p.Thr1038Pro) c.3471A>C (p.Glu1157Asp) c.3447A>C (p.Glu1149Asp) c.3444A>C (p.Glu1148Asp) c.3372A>C (p.Glu1124Asp) c.3357A>C (p.Glu1119Asp) c.3282A>C (p.Glu1094Asp) | |
1 | g.16986276T>A | CA338232220 | ATP13A2 | c.3488A>T (p.Glu1163Val) c.3186A>T (p.Gly1062=) c.3473A>T (p.Glu1158Val) n.1534A>T c.906A>T (p.Gly302=) c.3318A>T (p.Gly1106=) c.3315A>T (p.Gly1105=) c.3303A>T (p.Gly1101=) c.3291A>T (p.Gly1097=) c.3258A>T (p.Gly1086=) c.3201A>T (p.Gly1067=) c.3300A>T (p.Gly1100=) c.3276A>T (p.Gly1092=) c.3111A>T (p.Gly1037=) c.3470A>T (p.Glu1157Val) c.3446A>T (p.Glu1149Val) c.3443A>T (p.Glu1148Val) c.3371A>T (p.Glu1124Val) c.3356A>T (p.Glu1119Val) c.3281A>T (p.Glu1094Val) | |
1 | g.16986276T>C | CA338232224 | ATP13A2 | c.3488A>G (p.Glu1163Gly) c.3186A>G (p.Gly1062=) c.3473A>G (p.Glu1158Gly) n.1534A>G c.906A>G (p.Gly302=) c.3318A>G (p.Gly1106=) c.3315A>G (p.Gly1105=) c.3303A>G (p.Gly1101=) c.3291A>G (p.Gly1097=) c.3258A>G (p.Gly1086=) c.3201A>G (p.Gly1067=) c.3300A>G (p.Gly1100=) c.3276A>G (p.Gly1092=) c.3111A>G (p.Gly1037=) c.3470A>G (p.Glu1157Gly) c.3446A>G (p.Glu1149Gly) c.3443A>G (p.Glu1148Gly) c.3371A>G (p.Glu1124Gly) c.3356A>G (p.Glu1119Gly) c.3281A>G (p.Glu1094Gly) | |
1 | g.16986276T>G | CA338232227 | ATP13A2 | c.3488A>C (p.Glu1163Ala) c.3186A>C (p.Gly1062=) c.3473A>C (p.Glu1158Ala) n.1534A>C c.906A>C (p.Gly302=) c.3318A>C (p.Gly1106=) c.3315A>C (p.Gly1105=) c.3303A>C (p.Gly1101=) c.3291A>C (p.Gly1097=) c.3258A>C (p.Gly1086=) c.3201A>C (p.Gly1067=) c.3300A>C (p.Gly1100=) c.3276A>C (p.Gly1092=) c.3111A>C (p.Gly1037=) c.3470A>C (p.Glu1157Ala) c.3446A>C (p.Glu1149Ala) c.3443A>C (p.Glu1148Ala) c.3371A>C (p.Glu1124Ala) c.3356A>C (p.Glu1119Ala) c.3281A>C (p.Glu1094Ala) | |
1 | g.16986277C>A | CA338232230 | ATP13A2 | c.3487G>T (p.Glu1163Ter) c.3185G>T (p.Gly1062Val) c.3472G>T (p.Glu1158Ter) n.1533G>T c.905G>T (p.Gly302Val) c.3317G>T (p.Gly1106Val) c.3314G>T (p.Gly1105Val) c.3302G>T (p.Gly1101Val) c.3290G>T (p.Gly1097Val) c.3257G>T (p.Gly1086Val) c.3200G>T (p.Gly1067Val) c.3299G>T (p.Gly1100Val) c.3275G>T (p.Gly1092Val) c.3110G>T (p.Gly1037Val) c.3469G>T (p.Glu1157Ter) c.3445G>T (p.Glu1149Ter) c.3442G>T (p.Glu1148Ter) c.3370G>T (p.Glu1124Ter) c.3355G>T (p.Glu1119Ter) c.3280G>T (p.Glu1094Ter) | gnomAD v4 |
1 | g.16986277C>G | CA338232239 | ATP13A2 | c.3487G>C (p.Glu1163Gln) c.3185G>C (p.Gly1062Ala) c.3472G>C (p.Glu1158Gln) n.1533G>C c.905G>C (p.Gly302Ala) c.3317G>C (p.Gly1106Ala) c.3314G>C (p.Gly1105Ala) c.3302G>C (p.Gly1101Ala) c.3290G>C (p.Gly1097Ala) c.3257G>C (p.Gly1086Ala) c.3200G>C (p.Gly1067Ala) c.3299G>C (p.Gly1100Ala) c.3275G>C (p.Gly1092Ala) c.3110G>C (p.Gly1037Ala) c.3469G>C (p.Glu1157Gln) c.3445G>C (p.Glu1149Gln) c.3442G>C (p.Glu1148Gln) c.3370G>C (p.Glu1124Gln) c.3355G>C (p.Glu1119Gln) c.3280G>C (p.Glu1094Gln) | |
1 | g.16986277C>T | CA338232241 | ATP13A2 | c.3487G>A (p.Glu1163Lys) c.3185G>A (p.Gly1062Glu) c.3472G>A (p.Glu1158Lys) n.1533G>A c.905G>A (p.Gly302Glu) c.3317G>A (p.Gly1106Glu) c.3314G>A (p.Gly1105Glu) c.3302G>A (p.Gly1101Glu) c.3290G>A (p.Gly1097Glu) c.3257G>A (p.Gly1086Glu) c.3200G>A (p.Gly1067Glu) c.3299G>A (p.Gly1100Glu) c.3275G>A (p.Gly1092Glu) c.3110G>A (p.Gly1037Glu) c.3469G>A (p.Glu1157Lys) c.3445G>A (p.Glu1149Lys) c.3442G>A (p.Glu1148Lys) c.3370G>A (p.Glu1124Lys) c.3355G>A (p.Glu1119Lys) c.3280G>A (p.Glu1094Lys) | |
1 | g.16986278C>A | CA338232243 | ATP13A2 | c.3486G>T (p.Leu1162=) c.3184G>T (p.Gly1062Ter) c.3471G>T (p.Leu1157=) n.1532G>T c.904G>T (p.Gly302Ter) c.3316G>T (p.Gly1106Ter) c.3313G>T (p.Gly1105Ter) c.3301G>T (p.Gly1101Ter) c.3289G>T (p.Gly1097Ter) c.3256G>T (p.Gly1086Ter) c.3199G>T (p.Gly1067Ter) c.3298G>T (p.Gly1100Ter) c.3274G>T (p.Gly1092Ter) c.3109G>T (p.Gly1037Ter) c.3468G>T (p.Leu1156=) c.3444G>T (p.Leu1148=) c.3441G>T (p.Leu1147=) c.3369G>T (p.Leu1123=) c.3354G>T (p.Leu1118=) c.3279G>T (p.Leu1093=) | |
1 | g.16986278C>G | CA338232245 | ATP13A2 | c.3486G>C (p.Leu1162=) c.3184G>C (p.Gly1062Arg) c.3471G>C (p.Leu1157=) n.1532G>C c.904G>C (p.Gly302Arg) c.3316G>C (p.Gly1106Arg) c.3313G>C (p.Gly1105Arg) c.3301G>C (p.Gly1101Arg) c.3289G>C (p.Gly1097Arg) c.3256G>C (p.Gly1086Arg) c.3199G>C (p.Gly1067Arg) c.3298G>C (p.Gly1100Arg) c.3274G>C (p.Gly1092Arg) c.3109G>C (p.Gly1037Arg) c.3468G>C (p.Leu1156=) c.3444G>C (p.Leu1148=) c.3441G>C (p.Leu1147=) c.3369G>C (p.Leu1123=) c.3354G>C (p.Leu1118=) c.3279G>C (p.Leu1093=) | |
1 | g.16986278C>T | CA338232244 | ATP13A2 | c.3486G>A (p.Leu1162=) c.3184G>A (p.Gly1062Arg) c.3471G>A (p.Leu1157=) n.1532G>A c.904G>A (p.Gly302Arg) c.3316G>A (p.Gly1106Arg) c.3313G>A (p.Gly1105Arg) c.3301G>A (p.Gly1101Arg) c.3289G>A (p.Gly1097Arg) c.3256G>A (p.Gly1086Arg) c.3199G>A (p.Gly1067Arg) c.3298G>A (p.Gly1100Arg) c.3274G>A (p.Gly1092Arg) c.3109G>A (p.Gly1037Arg) c.3468G>A (p.Leu1156=) c.3444G>A (p.Leu1148=) c.3441G>A (p.Leu1147=) c.3369G>A (p.Leu1123=) c.3354G>A (p.Leu1118=) c.3279G>A (p.Leu1093=) | |
1 | g.16986279A>C | CA338232246 | ATP13A2 | c.3485T>G (p.Leu1162Arg) c.3183T>G (p.Ala1061=) c.3470T>G (p.Leu1157Arg) n.1531T>G c.903T>G (p.Ala301=) c.3315T>G (p.Ala1105=) c.3312T>G (p.Ala1104=) c.3300T>G (p.Ala1100=) c.3288T>G (p.Ala1096=) c.3255T>G (p.Ala1085=) c.3198T>G (p.Ala1066=) c.3297T>G (p.Ala1099=) c.3273T>G (p.Ala1091=) c.3108T>G (p.Ala1036=) c.3467T>G (p.Leu1156Arg) c.3443T>G (p.Leu1148Arg) c.3440T>G (p.Leu1147Arg) c.3368T>G (p.Leu1123Arg) c.3353T>G (p.Leu1118Arg) c.3278T>G (p.Leu1093Arg) | |
1 | g.16986279A>G | CA338232247 | ATP13A2 | c.3485T>C (p.Leu1162Pro) c.3183T>C (p.Ala1061=) c.3470T>C (p.Leu1157Pro) n.1531T>C c.903T>C (p.Ala301=) c.3315T>C (p.Ala1105=) c.3312T>C (p.Ala1104=) c.3300T>C (p.Ala1100=) c.3288T>C (p.Ala1096=) c.3255T>C (p.Ala1085=) c.3198T>C (p.Ala1066=) c.3297T>C (p.Ala1099=) c.3273T>C (p.Ala1091=) c.3108T>C (p.Ala1036=) c.3467T>C (p.Leu1156Pro) c.3443T>C (p.Leu1148Pro) c.3440T>C (p.Leu1147Pro) c.3368T>C (p.Leu1123Pro) c.3353T>C (p.Leu1118Pro) c.3278T>C (p.Leu1093Pro) | |
1 | g.16986279A>T | CA338232248 | ATP13A2 | c.3485T>A (p.Leu1162Gln) c.3183T>A (p.Ala1061=) c.3470T>A (p.Leu1157Gln) n.1531T>A c.903T>A (p.Ala301=) c.3315T>A (p.Ala1105=) c.3312T>A (p.Ala1104=) c.3300T>A (p.Ala1100=) c.3288T>A (p.Ala1096=) c.3255T>A (p.Ala1085=) c.3198T>A (p.Ala1066=) c.3297T>A (p.Ala1099=) c.3273T>A (p.Ala1091=) c.3108T>A (p.Ala1036=) c.3467T>A (p.Leu1156Gln) c.3443T>A (p.Leu1148Gln) c.3440T>A (p.Leu1147Gln) c.3368T>A (p.Leu1123Gln) c.3353T>A (p.Leu1118Gln) c.3278T>A (p.Leu1093Gln) | gnomAD v4 |
1 | g.16986280G>A | CA338232249 | ATP13A2 | c.3484C>T (p.Leu1162=) c.3182C>T (p.Ala1061Val) c.3469C>T (p.Leu1157=) n.1530C>T c.902C>T (p.Ala301Val) c.3314C>T (p.Ala1105Val) c.3311C>T (p.Ala1104Val) c.3299C>T (p.Ala1100Val) c.3287C>T (p.Ala1096Val) c.3254C>T (p.Ala1085Val) c.3197C>T (p.Ala1066Val) c.3296C>T (p.Ala1099Val) c.3272C>T (p.Ala1091Val) c.3107C>T (p.Ala1036Val) c.3466C>T (p.Leu1156=) c.3442C>T (p.Leu1148=) c.3439C>T (p.Leu1147=) c.3367C>T (p.Leu1123=) c.3352C>T (p.Leu1118=) c.3277C>T (p.Leu1093=) | |
1 | g.16986280G>C | CA338232251 | ATP13A2 | c.3484C>G (p.Leu1162Val) c.3182C>G (p.Ala1061Gly) c.3469C>G (p.Leu1157Val) n.1530C>G c.902C>G (p.Ala301Gly) c.3314C>G (p.Ala1105Gly) c.3311C>G (p.Ala1104Gly) c.3299C>G (p.Ala1100Gly) c.3287C>G (p.Ala1096Gly) c.3254C>G (p.Ala1085Gly) c.3197C>G (p.Ala1066Gly) c.3296C>G (p.Ala1099Gly) c.3272C>G (p.Ala1091Gly) c.3107C>G (p.Ala1036Gly) c.3466C>G (p.Leu1156Val) c.3442C>G (p.Leu1148Val) c.3439C>G (p.Leu1147Val) c.3367C>G (p.Leu1123Val) c.3352C>G (p.Leu1118Val) c.3277C>G (p.Leu1093Val) | |
1 | g.16986280G>T | CA338232252 | ATP13A2 | c.3484C>A (p.Leu1162Met) c.3182C>A (p.Ala1061Asp) c.3469C>A (p.Leu1157Met) n.1530C>A c.902C>A (p.Ala301Asp) c.3314C>A (p.Ala1105Asp) c.3311C>A (p.Ala1104Asp) c.3299C>A (p.Ala1100Asp) c.3287C>A (p.Ala1096Asp) c.3254C>A (p.Ala1085Asp) c.3197C>A (p.Ala1066Asp) c.3296C>A (p.Ala1099Asp) c.3272C>A (p.Ala1091Asp) c.3107C>A (p.Ala1036Asp) c.3466C>A (p.Leu1156Met) c.3442C>A (p.Leu1148Met) c.3439C>A (p.Leu1147Met) c.3367C>A (p.Leu1123Met) c.3352C>A (p.Leu1118Met) c.3277C>A (p.Leu1093Met) | gnomAD v4 |
1 | g.16986281C>A | CA338232254 | ATP13A2 | c.3483G>T (p.Gln1161His) c.3181G>T (p.Ala1061Ser) c.3468G>T (p.Gln1156His) n.1529G>T c.901G>T (p.Ala301Ser) c.3313G>T (p.Ala1105Ser) c.3310G>T (p.Ala1104Ser) c.3298G>T (p.Ala1100Ser) c.3286G>T (p.Ala1096Ser) c.3253G>T (p.Ala1085Ser) c.3196G>T (p.Ala1066Ser) c.3295G>T (p.Ala1099Ser) c.3271G>T (p.Ala1091Ser) c.3106G>T (p.Ala1036Ser) c.3465G>T (p.Gln1155His) c.3441G>T (p.Gln1147His) c.3438G>T (p.Gln1146His) c.3366G>T (p.Gln1122His) c.3351G>T (p.Gln1117His) c.3276G>T (p.Gln1092His) | gnomAD v4 |
1 | g.16986281C= | CA1156049425 | ATP13A2 | c.3483G= (p.Gln1161=) c.3181G= (p.Ala1061=) c.3468G= (p.Gln1156=) n.1529G= c.901G= (p.Ala301=) c.3313G= (p.Ala1105=) c.3310G= (p.Ala1104=) c.3298G= (p.Ala1100=) c.3286G= (p.Ala1096=) c.3253G= (p.Ala1085=) c.3196G= (p.Ala1066=) c.3295G= (p.Ala1099=) c.3271G= (p.Ala1091=) c.3106G= (p.Ala1036=) c.3465G= (p.Gln1155=) c.3441G= (p.Gln1147=) c.3438G= (p.Gln1146=) c.3366G= (p.Gln1122=) c.3351G= (p.Gln1117=) c.3276G= (p.Gln1092=) | |
1 | g.16986281C>G | CA636471 | ATP13A2 | c.3483G>C (p.Gln1161His) c.3181G>C (p.Ala1061Pro) c.3468G>C (p.Gln1156His) n.1529G>C c.901G>C (p.Ala301Pro) c.3313G>C (p.Ala1105Pro) c.3310G>C (p.Ala1104Pro) c.3298G>C (p.Ala1100Pro) c.3286G>C (p.Ala1096Pro) c.3253G>C (p.Ala1085Pro) c.3196G>C (p.Ala1066Pro) c.3295G>C (p.Ala1099Pro) c.3271G>C (p.Ala1091Pro) c.3106G>C (p.Ala1036Pro) c.3465G>C (p.Gln1155His) c.3441G>C (p.Gln1147His) c.3438G>C (p.Gln1146His) c.3366G>C (p.Gln1122His) c.3351G>C (p.Gln1117His) c.3276G>C (p.Gln1092His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986281C>T | CA338232255 | ATP13A2 | c.3483G>A (p.Gln1161=) c.3181G>A (p.Ala1061Thr) c.3468G>A (p.Gln1156=) n.1529G>A c.901G>A (p.Ala301Thr) c.3313G>A (p.Ala1105Thr) c.3310G>A (p.Ala1104Thr) c.3298G>A (p.Ala1100Thr) c.3286G>A (p.Ala1096Thr) c.3253G>A (p.Ala1085Thr) c.3196G>A (p.Ala1066Thr) c.3295G>A (p.Ala1099Thr) c.3271G>A (p.Ala1091Thr) c.3106G>A (p.Ala1036Thr) c.3465G>A (p.Gln1155=) c.3441G>A (p.Gln1147=) c.3438G>A (p.Gln1146=) c.3366G>A (p.Gln1122=) c.3351G>A (p.Gln1117=) c.3276G>A (p.Gln1092=) | gnomAD v4 |
1 | g.16986282T>A | CA338232258 | ATP13A2 | c.3482A>T (p.Gln1161Leu) c.3180A>T (p.Ala1060=) c.3467A>T (p.Gln1156Leu) n.1528A>T c.900A>T (p.Ala300=) c.3312A>T (p.Ala1104=) c.3309A>T (p.Ala1103=) c.3297A>T (p.Ala1099=) c.3285A>T (p.Ala1095=) c.3252A>T (p.Ala1084=) c.3195A>T (p.Ala1065=) c.3294A>T (p.Ala1098=) c.3270A>T (p.Ala1090=) c.3105A>T (p.Ala1035=) c.3464A>T (p.Gln1155Leu) c.3440A>T (p.Gln1147Leu) c.3437A>T (p.Gln1146Leu) c.3365A>T (p.Gln1122Leu) c.3350A>T (p.Gln1117Leu) c.3275A>T (p.Gln1092Leu) | |
1 | g.16986282T>C | CA338232260 | ATP13A2 | c.3482A>G (p.Gln1161Arg) c.3180A>G (p.Ala1060=) c.3467A>G (p.Gln1156Arg) n.1528A>G c.900A>G (p.Ala300=) c.3312A>G (p.Ala1104=) c.3309A>G (p.Ala1103=) c.3297A>G (p.Ala1099=) c.3285A>G (p.Ala1095=) c.3252A>G (p.Ala1084=) c.3195A>G (p.Ala1065=) c.3294A>G (p.Ala1098=) c.3270A>G (p.Ala1090=) c.3105A>G (p.Ala1035=) c.3464A>G (p.Gln1155Arg) c.3440A>G (p.Gln1147Arg) c.3437A>G (p.Gln1146Arg) c.3365A>G (p.Gln1122Arg) c.3350A>G (p.Gln1117Arg) c.3275A>G (p.Gln1092Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986282T>G | CA338232261 | ATP13A2 | c.3482A>C (p.Gln1161Pro) c.3180A>C (p.Ala1060=) c.3467A>C (p.Gln1156Pro) n.1528A>C c.900A>C (p.Ala300=) c.3312A>C (p.Ala1104=) c.3309A>C (p.Ala1103=) c.3297A>C (p.Ala1099=) c.3285A>C (p.Ala1095=) c.3252A>C (p.Ala1084=) c.3195A>C (p.Ala1065=) c.3294A>C (p.Ala1098=) c.3270A>C (p.Ala1090=) c.3105A>C (p.Ala1035=) c.3464A>C (p.Gln1155Pro) c.3440A>C (p.Gln1147Pro) c.3437A>C (p.Gln1146Pro) c.3365A>C (p.Gln1122Pro) c.3350A>C (p.Gln1117Pro) c.3275A>C (p.Gln1092Pro) | |
1 | g.16986282T= | CA1156049434 | ATP13A2 | c.3482A= (p.Gln1161=) c.3180A= (p.Ala1060=) c.3467A= (p.Gln1156=) n.1528A= c.900A= (p.Ala300=) c.3312A= (p.Ala1104=) c.3309A= (p.Ala1103=) c.3297A= (p.Ala1099=) c.3285A= (p.Ala1095=) c.3252A= (p.Ala1084=) c.3195A= (p.Ala1065=) c.3294A= (p.Ala1098=) c.3270A= (p.Ala1090=) c.3105A= (p.Ala1035=) c.3464A= (p.Gln1155=) c.3440A= (p.Gln1147=) c.3437A= (p.Gln1146=) c.3365A= (p.Gln1122=) c.3350A= (p.Gln1117=) c.3275A= (p.Gln1092=) | |
1 | g.16986283G>A | CA338232265 | ATP13A2 | c.3481C>T (p.Gln1161Ter) c.3179C>T (p.Ala1060Val) c.3466C>T (p.Gln1156Ter) n.1527C>T c.899C>T (p.Ala300Val) c.3311C>T (p.Ala1104Val) c.3308C>T (p.Ala1103Val) c.3296C>T (p.Ala1099Val) c.3284C>T (p.Ala1095Val) c.3251C>T (p.Ala1084Val) c.3194C>T (p.Ala1065Val) c.3293C>T (p.Ala1098Val) c.3269C>T (p.Ala1090Val) c.3104C>T (p.Ala1035Val) c.3463C>T (p.Gln1155Ter) c.3439C>T (p.Gln1147Ter) c.3436C>T (p.Gln1146Ter) c.3364C>T (p.Gln1122Ter) c.3349C>T (p.Gln1117Ter) c.3274C>T (p.Gln1092Ter) | gnomAD v4 |
1 | g.16986283G>C | CA338232267 | ATP13A2 | c.3481C>G (p.Gln1161Glu) c.3179C>G (p.Ala1060Gly) c.3466C>G (p.Gln1156Glu) n.1527C>G c.899C>G (p.Ala300Gly) c.3311C>G (p.Ala1104Gly) c.3308C>G (p.Ala1103Gly) c.3296C>G (p.Ala1099Gly) c.3284C>G (p.Ala1095Gly) c.3251C>G (p.Ala1084Gly) c.3194C>G (p.Ala1065Gly) c.3293C>G (p.Ala1098Gly) c.3269C>G (p.Ala1090Gly) c.3104C>G (p.Ala1035Gly) c.3463C>G (p.Gln1155Glu) c.3439C>G (p.Gln1147Glu) c.3436C>G (p.Gln1146Glu) c.3364C>G (p.Gln1122Glu) c.3349C>G (p.Gln1117Glu) c.3274C>G (p.Gln1092Glu) | |
1 | g.16986283G= | CA1156049442 | ATP13A2 | c.3481C= (p.Gln1161=) c.3179C= (p.Ala1060=) c.3466C= (p.Gln1156=) n.1527C= c.899C= (p.Ala300=) c.3311C= (p.Ala1104=) c.3308C= (p.Ala1103=) c.3296C= (p.Ala1099=) c.3284C= (p.Ala1095=) c.3251C= (p.Ala1084=) c.3194C= (p.Ala1065=) c.3293C= (p.Ala1098=) c.3269C= (p.Ala1090=) c.3104C= (p.Ala1035=) c.3463C= (p.Gln1155=) c.3439C= (p.Gln1147=) c.3436C= (p.Gln1146=) c.3364C= (p.Gln1122=) c.3349C= (p.Gln1117=) c.3274C= (p.Gln1092=) | |
1 | g.16986283G>T | CA338232266 | ATP13A2 | c.3481C>A (p.Gln1161Lys) c.3179C>A (p.Ala1060Glu) c.3466C>A (p.Gln1156Lys) n.1527C>A c.899C>A (p.Ala300Glu) c.3311C>A (p.Ala1104Glu) c.3308C>A (p.Ala1103Glu) c.3296C>A (p.Ala1099Glu) c.3284C>A (p.Ala1095Glu) c.3251C>A (p.Ala1084Glu) c.3194C>A (p.Ala1065Glu) c.3293C>A (p.Ala1098Glu) c.3269C>A (p.Ala1090Glu) c.3104C>A (p.Ala1035Glu) c.3463C>A (p.Gln1155Lys) c.3439C>A (p.Gln1147Lys) c.3436C>A (p.Gln1146Lys) c.3364C>A (p.Gln1122Lys) c.3349C>A (p.Gln1117Lys) c.3274C>A (p.Gln1092Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986284C>A | CA338232270 | ATP13A2 | c.3480G>T (p.Lys1160Asn) c.3178G>T (p.Ala1060Ser) c.3465G>T (p.Lys1155Asn) n.1526G>T c.898G>T (p.Ala300Ser) c.3310G>T (p.Ala1104Ser) c.3307G>T (p.Ala1103Ser) c.3295G>T (p.Ala1099Ser) c.3283G>T (p.Ala1095Ser) c.3250G>T (p.Ala1084Ser) c.3193G>T (p.Ala1065Ser) c.3292G>T (p.Ala1098Ser) c.3268G>T (p.Ala1090Ser) c.3103G>T (p.Ala1035Ser) c.3462G>T (p.Lys1154Asn) c.3438G>T (p.Lys1146Asn) c.3435G>T (p.Lys1145Asn) c.3363G>T (p.Lys1121Asn) c.3348G>T (p.Lys1116Asn) c.3273G>T (p.Lys1091Asn) | |
1 | g.16986284C>G | CA338232279 | ATP13A2 | c.3480G>C (p.Lys1160Asn) c.3178G>C (p.Ala1060Pro) c.3465G>C (p.Lys1155Asn) n.1526G>C c.898G>C (p.Ala300Pro) c.3310G>C (p.Ala1104Pro) c.3307G>C (p.Ala1103Pro) c.3295G>C (p.Ala1099Pro) c.3283G>C (p.Ala1095Pro) c.3250G>C (p.Ala1084Pro) c.3193G>C (p.Ala1065Pro) c.3292G>C (p.Ala1098Pro) c.3268G>C (p.Ala1090Pro) c.3103G>C (p.Ala1035Pro) c.3462G>C (p.Lys1154Asn) c.3438G>C (p.Lys1146Asn) c.3435G>C (p.Lys1145Asn) c.3363G>C (p.Lys1121Asn) c.3348G>C (p.Lys1116Asn) c.3273G>C (p.Lys1091Asn) | |
1 | g.16986284C>T | CA338232282 | ATP13A2 | c.3480G>A (p.Lys1160=) c.3178G>A (p.Ala1060Thr) c.3465G>A (p.Lys1155=) n.1526G>A c.898G>A (p.Ala300Thr) c.3310G>A (p.Ala1104Thr) c.3307G>A (p.Ala1103Thr) c.3295G>A (p.Ala1099Thr) c.3283G>A (p.Ala1095Thr) c.3250G>A (p.Ala1084Thr) c.3193G>A (p.Ala1065Thr) c.3292G>A (p.Ala1098Thr) c.3268G>A (p.Ala1090Thr) c.3103G>A (p.Ala1035Thr) c.3462G>A (p.Lys1154=) c.3438G>A (p.Lys1146=) c.3435G>A (p.Lys1145=) c.3363G>A (p.Lys1121=) c.3348G>A (p.Lys1116=) c.3273G>A (p.Lys1091=) | gnomAD v4 |
1 | g.16986285T>A | CA338232285 | ATP13A2 | c.3479A>T (p.Lys1160Met) c.3177A>T (p.Gln1059His) c.3464A>T (p.Lys1155Met) n.1525A>T c.897A>T (p.Gln299His) c.3309A>T (p.Gln1103His) c.3306A>T (p.Gln1102His) c.3294A>T (p.Gln1098His) c.3282A>T (p.Gln1094His) c.3249A>T (p.Gln1083His) c.3192A>T (p.Gln1064His) c.3291A>T (p.Gln1097His) c.3267A>T (p.Gln1089His) c.3102A>T (p.Gln1034His) c.3461A>T (p.Lys1154Met) c.3437A>T (p.Lys1146Met) c.3434A>T (p.Lys1145Met) c.3362A>T (p.Lys1121Met) c.3347A>T (p.Lys1116Met) c.3272A>T (p.Lys1091Met) | gnomAD v4 |
1 | g.16986285T>C | CA338232286 | ATP13A2 | c.3479A>G (p.Lys1160Arg) c.3177A>G (p.Gln1059=) c.3464A>G (p.Lys1155Arg) n.1525A>G c.897A>G (p.Gln299=) c.3309A>G (p.Gln1103=) c.3306A>G (p.Gln1102=) c.3294A>G (p.Gln1098=) c.3282A>G (p.Gln1094=) c.3249A>G (p.Gln1083=) c.3192A>G (p.Gln1064=) c.3291A>G (p.Gln1097=) c.3267A>G (p.Gln1089=) c.3102A>G (p.Gln1034=) c.3461A>G (p.Lys1154Arg) c.3437A>G (p.Lys1146Arg) c.3434A>G (p.Lys1145Arg) c.3362A>G (p.Lys1121Arg) c.3347A>G (p.Lys1116Arg) c.3272A>G (p.Lys1091Arg) | |
1 | g.16986285T>G | CA338232290 | ATP13A2 | c.3479A>C (p.Lys1160Thr) c.3177A>C (p.Gln1059His) c.3464A>C (p.Lys1155Thr) n.1525A>C c.897A>C (p.Gln299His) c.3309A>C (p.Gln1103His) c.3306A>C (p.Gln1102His) c.3294A>C (p.Gln1098His) c.3282A>C (p.Gln1094His) c.3249A>C (p.Gln1083His) c.3192A>C (p.Gln1064His) c.3291A>C (p.Gln1097His) c.3267A>C (p.Gln1089His) c.3102A>C (p.Gln1034His) c.3461A>C (p.Lys1154Thr) c.3437A>C (p.Lys1146Thr) c.3434A>C (p.Lys1145Thr) c.3362A>C (p.Lys1121Thr) c.3347A>C (p.Lys1116Thr) c.3272A>C (p.Lys1091Thr) | |
1 | g.16986286T>A | CA338232292 | ATP13A2 | c.3478A>T (p.Lys1160Ter) c.3176A>T (p.Gln1059Leu) c.3463A>T (p.Lys1155Ter) n.1524A>T c.896A>T (p.Gln299Leu) c.3308A>T (p.Gln1103Leu) c.3305A>T (p.Gln1102Leu) c.3293A>T (p.Gln1098Leu) c.3281A>T (p.Gln1094Leu) c.3248A>T (p.Gln1083Leu) c.3191A>T (p.Gln1064Leu) c.3290A>T (p.Gln1097Leu) c.3266A>T (p.Gln1089Leu) c.3101A>T (p.Gln1034Leu) c.3460A>T (p.Lys1154Ter) c.3436A>T (p.Lys1146Ter) c.3433A>T (p.Lys1145Ter) c.3361A>T (p.Lys1121Ter) c.3346A>T (p.Lys1116Ter) c.3271A>T (p.Lys1091Ter) | |
1 | g.16986286T>C | CA338232294 | ATP13A2 | c.3478A>G (p.Lys1160Glu) c.3176A>G (p.Gln1059Arg) c.3463A>G (p.Lys1155Glu) n.1524A>G c.896A>G (p.Gln299Arg) c.3308A>G (p.Gln1103Arg) c.3305A>G (p.Gln1102Arg) c.3293A>G (p.Gln1098Arg) c.3281A>G (p.Gln1094Arg) c.3248A>G (p.Gln1083Arg) c.3191A>G (p.Gln1064Arg) c.3290A>G (p.Gln1097Arg) c.3266A>G (p.Gln1089Arg) c.3101A>G (p.Gln1034Arg) c.3460A>G (p.Lys1154Glu) c.3436A>G (p.Lys1146Glu) c.3433A>G (p.Lys1145Glu) c.3361A>G (p.Lys1121Glu) c.3346A>G (p.Lys1116Glu) c.3271A>G (p.Lys1091Glu) | |
1 | g.16986286T>G | CA338232295 | ATP13A2 | c.3478A>C (p.Lys1160Gln) c.3176A>C (p.Gln1059Pro) c.3463A>C (p.Lys1155Gln) n.1524A>C c.896A>C (p.Gln299Pro) c.3308A>C (p.Gln1103Pro) c.3305A>C (p.Gln1102Pro) c.3293A>C (p.Gln1098Pro) c.3281A>C (p.Gln1094Pro) c.3248A>C (p.Gln1083Pro) c.3191A>C (p.Gln1064Pro) c.3290A>C (p.Gln1097Pro) c.3266A>C (p.Gln1089Pro) c.3101A>C (p.Gln1034Pro) c.3460A>C (p.Lys1154Gln) c.3436A>C (p.Lys1146Gln) c.3433A>C (p.Lys1145Gln) c.3361A>C (p.Lys1121Gln) c.3346A>C (p.Lys1116Gln) c.3271A>C (p.Lys1091Gln) | |
1 | g.16986287G>A | CA338232297 | ATP13A2 | c.3477C>T (p.Phe1159=) c.3175C>T (p.Gln1059Ter) c.3462C>T (p.Phe1154=) n.1523C>T c.895C>T (p.Gln299Ter) c.3307C>T (p.Gln1103Ter) c.3304C>T (p.Gln1102Ter) c.3292C>T (p.Gln1098Ter) c.3280C>T (p.Gln1094Ter) c.3247C>T (p.Gln1083Ter) c.3190C>T (p.Gln1064Ter) c.3289C>T (p.Gln1097Ter) c.3265C>T (p.Gln1089Ter) c.3100C>T (p.Gln1034Ter) c.3459C>T (p.Phe1153=) c.3435C>T (p.Phe1145=) c.3432C>T (p.Phe1144=) c.3360C>T (p.Phe1120=) c.3345C>T (p.Phe1115=) c.3270C>T (p.Phe1090=) | |
1 | g.16986287G>C | CA338232298 | ATP13A2 | c.3477C>G (p.Phe1159Leu) c.3175C>G (p.Gln1059Glu) c.3462C>G (p.Phe1154Leu) n.1523C>G c.895C>G (p.Gln299Glu) c.3307C>G (p.Gln1103Glu) c.3304C>G (p.Gln1102Glu) c.3292C>G (p.Gln1098Glu) c.3280C>G (p.Gln1094Glu) c.3247C>G (p.Gln1083Glu) c.3190C>G (p.Gln1064Glu) c.3289C>G (p.Gln1097Glu) c.3265C>G (p.Gln1089Glu) c.3100C>G (p.Gln1034Glu) c.3459C>G (p.Phe1153Leu) c.3435C>G (p.Phe1145Leu) c.3432C>G (p.Phe1144Leu) c.3360C>G (p.Phe1120Leu) c.3345C>G (p.Phe1115Leu) c.3270C>G (p.Phe1090Leu) | |
1 | g.16986287G>T | CA338232299 | ATP13A2 | c.3477C>A (p.Phe1159Leu) c.3175C>A (p.Gln1059Lys) c.3462C>A (p.Phe1154Leu) n.1523C>A c.895C>A (p.Gln299Lys) c.3307C>A (p.Gln1103Lys) c.3304C>A (p.Gln1102Lys) c.3292C>A (p.Gln1098Lys) c.3280C>A (p.Gln1094Lys) c.3247C>A (p.Gln1083Lys) c.3190C>A (p.Gln1064Lys) c.3289C>A (p.Gln1097Lys) c.3265C>A (p.Gln1089Lys) c.3100C>A (p.Gln1034Lys) c.3459C>A (p.Phe1153Leu) c.3435C>A (p.Phe1145Leu) c.3432C>A (p.Phe1144Leu) c.3360C>A (p.Phe1120Leu) c.3345C>A (p.Phe1115Leu) c.3270C>A (p.Phe1090Leu) | |
1 | g.16986288A= | CA1156049446 | ATP13A2 | c.3476T= (p.Phe1159=) c.3174T= (p.Leu1058=) c.3461T= (p.Phe1154=) n.1522T= c.894T= (p.Leu298=) c.3306T= (p.Leu1102=) c.3303T= (p.Leu1101=) c.3291T= (p.Leu1097=) c.3279T= (p.Leu1093=) c.3246T= (p.Leu1082=) c.3189T= (p.Leu1063=) c.3288T= (p.Leu1096=) c.3264T= (p.Leu1088=) c.3099T= (p.Leu1033=) c.3458T= (p.Phe1153=) c.3434T= (p.Phe1145=) c.3431T= (p.Phe1144=) c.3359T= (p.Phe1120=) c.3344T= (p.Phe1115=) c.3269T= (p.Phe1090=) | |
1 | g.16986288A>C | CA338232302 | ATP13A2 | c.3476T>G (p.Phe1159Cys) c.3174T>G (p.Leu1058=) c.3461T>G (p.Phe1154Cys) n.1522T>G c.894T>G (p.Leu298=) c.3306T>G (p.Leu1102=) c.3303T>G (p.Leu1101=) c.3291T>G (p.Leu1097=) c.3279T>G (p.Leu1093=) c.3246T>G (p.Leu1082=) c.3189T>G (p.Leu1063=) c.3288T>G (p.Leu1096=) c.3264T>G (p.Leu1088=) c.3099T>G (p.Leu1033=) c.3458T>G (p.Phe1153Cys) c.3434T>G (p.Phe1145Cys) c.3431T>G (p.Phe1144Cys) c.3359T>G (p.Phe1120Cys) c.3344T>G (p.Phe1115Cys) c.3269T>G (p.Phe1090Cys) | |
1 | g.16986288A>G | CA338232301 | ATP13A2 | c.3476T>C (p.Phe1159Ser) c.3174T>C (p.Leu1058=) c.3461T>C (p.Phe1154Ser) n.1522T>C c.894T>C (p.Leu298=) c.3306T>C (p.Leu1102=) c.3303T>C (p.Leu1101=) c.3291T>C (p.Leu1097=) c.3279T>C (p.Leu1093=) c.3246T>C (p.Leu1082=) c.3189T>C (p.Leu1063=) c.3288T>C (p.Leu1096=) c.3264T>C (p.Leu1088=) c.3099T>C (p.Leu1033=) c.3458T>C (p.Phe1153Ser) c.3434T>C (p.Phe1145Ser) c.3431T>C (p.Phe1144Ser) c.3359T>C (p.Phe1120Ser) c.3344T>C (p.Phe1115Ser) c.3269T>C (p.Phe1090Ser) | ClinVar dbSNP |
1 | g.16986288A>T | CA338232300 | ATP13A2 | c.3476T>A (p.Phe1159Tyr) c.3174T>A (p.Leu1058=) c.3461T>A (p.Phe1154Tyr) n.1522T>A c.894T>A (p.Leu298=) c.3306T>A (p.Leu1102=) c.3303T>A (p.Leu1101=) c.3291T>A (p.Leu1097=) c.3279T>A (p.Leu1093=) c.3246T>A (p.Leu1082=) c.3189T>A (p.Leu1063=) c.3288T>A (p.Leu1096=) c.3264T>A (p.Leu1088=) c.3099T>A (p.Leu1033=) c.3458T>A (p.Phe1153Tyr) c.3434T>A (p.Phe1145Tyr) c.3431T>A (p.Phe1144Tyr) c.3359T>A (p.Phe1120Tyr) c.3344T>A (p.Phe1115Tyr) c.3269T>A (p.Phe1090Tyr) | |
1 | g.16986289A>C | CA338232304 | ATP13A2 | c.3475T>G (p.Phe1159Val) c.3173T>G (p.Leu1058Arg) c.3460T>G (p.Phe1154Val) n.1521T>G c.893T>G (p.Leu298Arg) c.3305T>G (p.Leu1102Arg) c.3302T>G (p.Leu1101Arg) c.3290T>G (p.Leu1097Arg) c.3278T>G (p.Leu1093Arg) c.3245T>G (p.Leu1082Arg) c.3188T>G (p.Leu1063Arg) c.3287T>G (p.Leu1096Arg) c.3263T>G (p.Leu1088Arg) c.3098T>G (p.Leu1033Arg) c.3457T>G (p.Phe1153Val) c.3433T>G (p.Phe1145Val) c.3430T>G (p.Phe1144Val) c.3358T>G (p.Phe1120Val) c.3343T>G (p.Phe1115Val) c.3268T>G (p.Phe1090Val) | gnomAD v4 |
1 | g.16986289A>G | CA338232305 | ATP13A2 | c.3475T>C (p.Phe1159Leu) c.3173T>C (p.Leu1058Pro) c.3460T>C (p.Phe1154Leu) n.1521T>C c.893T>C (p.Leu298Pro) c.3305T>C (p.Leu1102Pro) c.3302T>C (p.Leu1101Pro) c.3290T>C (p.Leu1097Pro) c.3278T>C (p.Leu1093Pro) c.3245T>C (p.Leu1082Pro) c.3188T>C (p.Leu1063Pro) c.3287T>C (p.Leu1096Pro) c.3263T>C (p.Leu1088Pro) c.3098T>C (p.Leu1033Pro) c.3457T>C (p.Phe1153Leu) c.3433T>C (p.Phe1145Leu) c.3430T>C (p.Phe1144Leu) c.3358T>C (p.Phe1120Leu) c.3343T>C (p.Phe1115Leu) c.3268T>C (p.Phe1090Leu) | |
1 | g.16986289A>T | CA338232307 | ATP13A2 | c.3475T>A (p.Phe1159Ile) c.3173T>A (p.Leu1058His) c.3460T>A (p.Phe1154Ile) n.1521T>A c.893T>A (p.Leu298His) c.3305T>A (p.Leu1102His) c.3302T>A (p.Leu1101His) c.3290T>A (p.Leu1097His) c.3278T>A (p.Leu1093His) c.3245T>A (p.Leu1082His) c.3188T>A (p.Leu1063His) c.3287T>A (p.Leu1096His) c.3263T>A (p.Leu1088His) c.3098T>A (p.Leu1033His) c.3457T>A (p.Phe1153Ile) c.3433T>A (p.Phe1145Ile) c.3430T>A (p.Phe1144Ile) c.3358T>A (p.Phe1120Ile) c.3343T>A (p.Phe1115Ile) c.3268T>A (p.Phe1090Ile) | |
1 | g.16986290G>A | CA338232309 | ATP13A2 | c.3474C>T (p.Arg1158=) c.3172C>T (p.Leu1058Phe) c.3459C>T (p.Arg1153=) n.1520C>T c.892C>T (p.Leu298Phe) c.3304C>T (p.Leu1102Phe) c.3301C>T (p.Leu1101Phe) c.3289C>T (p.Leu1097Phe) c.3277C>T (p.Leu1093Phe) c.3244C>T (p.Leu1082Phe) c.3187C>T (p.Leu1063Phe) c.3286C>T (p.Leu1096Phe) c.3262C>T (p.Leu1088Phe) c.3097C>T (p.Leu1033Phe) c.3456C>T (p.Arg1152=) c.3432C>T (p.Arg1144=) c.3429C>T (p.Arg1143=) c.3357C>T (p.Arg1119=) c.3342C>T (p.Arg1114=) c.3267C>T (p.Arg1089=) | gnomAD v4 |
1 | g.16986290G>C | CA338232311 | ATP13A2 | c.3474C>G (p.Arg1158=) c.3172C>G (p.Leu1058Val) c.3459C>G (p.Arg1153=) n.1520C>G c.892C>G (p.Leu298Val) c.3304C>G (p.Leu1102Val) c.3301C>G (p.Leu1101Val) c.3289C>G (p.Leu1097Val) c.3277C>G (p.Leu1093Val) c.3244C>G (p.Leu1082Val) c.3187C>G (p.Leu1063Val) c.3286C>G (p.Leu1096Val) c.3262C>G (p.Leu1088Val) c.3097C>G (p.Leu1033Val) c.3456C>G (p.Arg1152=) c.3432C>G (p.Arg1144=) c.3429C>G (p.Arg1143=) c.3357C>G (p.Arg1119=) c.3342C>G (p.Arg1114=) c.3267C>G (p.Arg1089=) | |
1 | g.16986290G>T | CA338232312 | ATP13A2 | c.3474C>A (p.Arg1158=) c.3172C>A (p.Leu1058Ile) c.3459C>A (p.Arg1153=) n.1520C>A c.892C>A (p.Leu298Ile) c.3304C>A (p.Leu1102Ile) c.3301C>A (p.Leu1101Ile) c.3289C>A (p.Leu1097Ile) c.3277C>A (p.Leu1093Ile) c.3244C>A (p.Leu1082Ile) c.3187C>A (p.Leu1063Ile) c.3286C>A (p.Leu1096Ile) c.3262C>A (p.Leu1088Ile) c.3097C>A (p.Leu1033Ile) c.3456C>A (p.Arg1152=) c.3432C>A (p.Arg1144=) c.3429C>A (p.Arg1143=) c.3357C>A (p.Arg1119=) c.3342C>A (p.Arg1114=) c.3267C>A (p.Arg1089=) | gnomAD v4 |
1 | g.16986291C>A | CA636473 | ATP13A2 | c.3473G>T (p.Arg1158Leu) c.3171G>T (p.Ala1057=) c.3458G>T (p.Arg1153Leu) n.1519G>T c.891G>T (p.Ala297=) c.3303G>T (p.Ala1101=) c.3300G>T (p.Ala1100=) c.3288G>T (p.Ala1096=) c.3276G>T (p.Ala1092=) c.3243G>T (p.Ala1081=) c.3186G>T (p.Ala1062=) c.3285G>T (p.Ala1095=) c.3261G>T (p.Ala1087=) c.3096G>T (p.Ala1032=) c.3455G>T (p.Arg1152Leu) c.3431G>T (p.Arg1144Leu) c.3428G>T (p.Arg1143Leu) c.3356G>T (p.Arg1119Leu) c.3341G>T (p.Arg1114Leu) c.3266G>T (p.Arg1089Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986291C= | CA1145579017 | ATP13A2 | c.3473G= (p.Arg1158=) c.3171G= (p.Ala1057=) c.3458G= (p.Arg1153=) n.1519G= c.891G= (p.Ala297=) c.3303G= (p.Ala1101=) c.3300G= (p.Ala1100=) c.3288G= (p.Ala1096=) c.3276G= (p.Ala1092=) c.3243G= (p.Ala1081=) c.3186G= (p.Ala1062=) c.3285G= (p.Ala1095=) c.3261G= (p.Ala1087=) c.3096G= (p.Ala1032=) c.3455G= (p.Arg1152=) c.3431G= (p.Arg1144=) c.3428G= (p.Arg1143=) c.3356G= (p.Arg1119=) c.3341G= (p.Arg1114=) c.3266G= (p.Arg1089=) | |
1 | g.16986291C>G | CA338232313 | ATP13A2 | c.3473G>C (p.Arg1158Pro) c.3171G>C (p.Ala1057=) c.3458G>C (p.Arg1153Pro) n.1519G>C c.891G>C (p.Ala297=) c.3303G>C (p.Ala1101=) c.3300G>C (p.Ala1100=) c.3288G>C (p.Ala1096=) c.3276G>C (p.Ala1092=) c.3243G>C (p.Ala1081=) c.3186G>C (p.Ala1062=) c.3285G>C (p.Ala1095=) c.3261G>C (p.Ala1087=) c.3096G>C (p.Ala1032=) c.3455G>C (p.Arg1152Pro) c.3431G>C (p.Arg1144Pro) c.3428G>C (p.Arg1143Pro) c.3356G>C (p.Arg1119Pro) c.3341G>C (p.Arg1114Pro) c.3266G>C (p.Arg1089Pro) | |
1 | g.16986291C>T | CA636472 | ATP13A2 | c.3473G>A (p.Arg1158His) c.3171G>A (p.Ala1057=) c.3458G>A (p.Arg1153His) n.1519G>A c.891G>A (p.Ala297=) c.3303G>A (p.Ala1101=) c.3300G>A (p.Ala1100=) c.3288G>A (p.Ala1096=) c.3276G>A (p.Ala1092=) c.3243G>A (p.Ala1081=) c.3186G>A (p.Ala1062=) c.3285G>A (p.Ala1095=) c.3261G>A (p.Ala1087=) c.3096G>A (p.Ala1032=) c.3455G>A (p.Arg1152His) c.3431G>A (p.Arg1144His) c.3428G>A (p.Arg1143His) c.3356G>A (p.Arg1119His) c.3341G>A (p.Arg1114His) c.3266G>A (p.Arg1089His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986292G>A | CA636474 | ATP13A2 | c.3472C>T (p.Arg1158Cys) c.3170C>T (p.Ala1057Val) c.3457C>T (p.Arg1153Cys) n.1518C>T c.890C>T (p.Ala297Val) c.3302C>T (p.Ala1101Val) c.3299C>T (p.Ala1100Val) c.3287C>T (p.Ala1096Val) c.3275C>T (p.Ala1092Val) c.3242C>T (p.Ala1081Val) c.3185C>T (p.Ala1062Val) c.3284C>T (p.Ala1095Val) c.3260C>T (p.Ala1087Val) c.3095C>T (p.Ala1032Val) c.3454C>T (p.Arg1152Cys) c.3430C>T (p.Arg1144Cys) c.3427C>T (p.Arg1143Cys) c.3355C>T (p.Arg1119Cys) c.3340C>T (p.Arg1114Cys) c.3265C>T (p.Arg1089Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986292G>C | CA338232324 | ATP13A2 | c.3472C>G (p.Arg1158Gly) c.3170C>G (p.Ala1057Gly) c.3457C>G (p.Arg1153Gly) n.1518C>G c.890C>G (p.Ala297Gly) c.3302C>G (p.Ala1101Gly) c.3299C>G (p.Ala1100Gly) c.3287C>G (p.Ala1096Gly) c.3275C>G (p.Ala1092Gly) c.3242C>G (p.Ala1081Gly) c.3185C>G (p.Ala1062Gly) c.3284C>G (p.Ala1095Gly) c.3260C>G (p.Ala1087Gly) c.3095C>G (p.Ala1032Gly) c.3454C>G (p.Arg1152Gly) c.3430C>G (p.Arg1144Gly) c.3427C>G (p.Arg1143Gly) c.3355C>G (p.Arg1119Gly) c.3340C>G (p.Arg1114Gly) c.3265C>G (p.Arg1089Gly) | |
1 | g.16986292G= | CA1143494131 | ATP13A2 | c.3472C= (p.Arg1158=) c.3170C= (p.Ala1057=) c.3457C= (p.Arg1153=) n.1518C= c.890C= (p.Ala297=) c.3302C= (p.Ala1101=) c.3299C= (p.Ala1100=) c.3287C= (p.Ala1096=) c.3275C= (p.Ala1092=) c.3242C= (p.Ala1081=) c.3185C= (p.Ala1062=) c.3284C= (p.Ala1095=) c.3260C= (p.Ala1087=) c.3095C= (p.Ala1032=) c.3454C= (p.Arg1152=) c.3430C= (p.Arg1144=) c.3427C= (p.Arg1143=) c.3355C= (p.Arg1119=) c.3340C= (p.Arg1114=) c.3265C= (p.Arg1089=) | |
1 | g.16986292G>T | CA338232328 | ATP13A2 | c.3472C>A (p.Arg1158Ser) c.3170C>A (p.Ala1057Glu) c.3457C>A (p.Arg1153Ser) n.1518C>A c.890C>A (p.Ala297Glu) c.3302C>A (p.Ala1101Glu) c.3299C>A (p.Ala1100Glu) c.3287C>A (p.Ala1096Glu) c.3275C>A (p.Ala1092Glu) c.3242C>A (p.Ala1081Glu) c.3185C>A (p.Ala1062Glu) c.3284C>A (p.Ala1095Glu) c.3260C>A (p.Ala1087Glu) c.3095C>A (p.Ala1032Glu) c.3454C>A (p.Arg1152Ser) c.3430C>A (p.Arg1144Ser) c.3427C>A (p.Arg1143Ser) c.3355C>A (p.Arg1119Ser) c.3340C>A (p.Arg1114Ser) c.3265C>A (p.Arg1089Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986293C>A | CA338232329 | ATP13A2 | c.3471G>T (p.Lys1157Asn) c.3169G>T (p.Ala1057Ser) c.3456G>T (p.Lys1152Asn) n.1517G>T c.889G>T (p.Ala297Ser) c.3301G>T (p.Ala1101Ser) c.3298G>T (p.Ala1100Ser) c.3286G>T (p.Ala1096Ser) c.3274G>T (p.Ala1092Ser) c.3241G>T (p.Ala1081Ser) c.3184G>T (p.Ala1062Ser) c.3283G>T (p.Ala1095Ser) c.3259G>T (p.Ala1087Ser) c.3094G>T (p.Ala1032Ser) c.3453G>T (p.Lys1151Asn) c.3429G>T (p.Lys1143Asn) c.3426G>T (p.Lys1142Asn) c.3354G>T (p.Lys1118Asn) c.3339G>T (p.Lys1113Asn) c.3264G>T (p.Lys1088Asn) | ClinVar dbSNP gnomAD v4 |
1 | g.16986293C>G | CA338232331 | ATP13A2 | c.3471G>C (p.Lys1157Asn) c.3169G>C (p.Ala1057Pro) c.3456G>C (p.Lys1152Asn) n.1517G>C c.889G>C (p.Ala297Pro) c.3301G>C (p.Ala1101Pro) c.3298G>C (p.Ala1100Pro) c.3286G>C (p.Ala1096Pro) c.3274G>C (p.Ala1092Pro) c.3241G>C (p.Ala1081Pro) c.3184G>C (p.Ala1062Pro) c.3283G>C (p.Ala1095Pro) c.3259G>C (p.Ala1087Pro) c.3094G>C (p.Ala1032Pro) c.3453G>C (p.Lys1151Asn) c.3429G>C (p.Lys1143Asn) c.3426G>C (p.Lys1142Asn) c.3354G>C (p.Lys1118Asn) c.3339G>C (p.Lys1113Asn) c.3264G>C (p.Lys1088Asn) | |
1 | g.16986293C>T | CA338232330 | ATP13A2 | c.3471G>A (p.Lys1157=) c.3169G>A (p.Ala1057Thr) c.3456G>A (p.Lys1152=) n.1517G>A c.889G>A (p.Ala297Thr) c.3301G>A (p.Ala1101Thr) c.3298G>A (p.Ala1100Thr) c.3286G>A (p.Ala1096Thr) c.3274G>A (p.Ala1092Thr) c.3241G>A (p.Ala1081Thr) c.3184G>A (p.Ala1062Thr) c.3283G>A (p.Ala1095Thr) c.3259G>A (p.Ala1087Thr) c.3094G>A (p.Ala1032Thr) c.3453G>A (p.Lys1151=) c.3429G>A (p.Lys1143=) c.3426G>A (p.Lys1142=) c.3354G>A (p.Lys1118=) c.3339G>A (p.Lys1113=) c.3264G>A (p.Lys1088=) | gnomAD v4 |
1 | g.16986294T>A | CA338232332 | ATP13A2 | c.3470A>T (p.Lys1157Met) c.3168A>T (p.Glu1056Asp) c.3455A>T (p.Lys1152Met) n.1516A>T c.888A>T (p.Glu296Asp) c.3300A>T (p.Glu1100Asp) c.3297A>T (p.Glu1099Asp) c.3285A>T (p.Glu1095Asp) c.3273A>T (p.Glu1091Asp) c.3240A>T (p.Glu1080Asp) c.3183A>T (p.Glu1061Asp) c.3282A>T (p.Glu1094Asp) c.3258A>T (p.Glu1086Asp) c.3093A>T (p.Glu1031Asp) c.3452A>T (p.Lys1151Met) c.3428A>T (p.Lys1143Met) c.3425A>T (p.Lys1142Met) c.3353A>T (p.Lys1118Met) c.3338A>T (p.Lys1113Met) c.3263A>T (p.Lys1088Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986294T>C | CA338232334 | ATP13A2 | c.3470A>G (p.Lys1157Arg) c.3168A>G (p.Glu1056=) c.3455A>G (p.Lys1152Arg) n.1516A>G c.888A>G (p.Glu296=) c.3300A>G (p.Glu1100=) c.3297A>G (p.Glu1099=) c.3285A>G (p.Glu1095=) c.3273A>G (p.Glu1091=) c.3240A>G (p.Glu1080=) c.3183A>G (p.Glu1061=) c.3282A>G (p.Glu1094=) c.3258A>G (p.Glu1086=) c.3093A>G (p.Glu1031=) c.3452A>G (p.Lys1151Arg) c.3428A>G (p.Lys1143Arg) c.3425A>G (p.Lys1142Arg) c.3353A>G (p.Lys1118Arg) c.3338A>G (p.Lys1113Arg) c.3263A>G (p.Lys1088Arg) | |
1 | g.16986294T>G | CA338232333 | ATP13A2 | c.3470A>C (p.Lys1157Thr) c.3168A>C (p.Glu1056Asp) c.3455A>C (p.Lys1152Thr) n.1516A>C c.888A>C (p.Glu296Asp) c.3300A>C (p.Glu1100Asp) c.3297A>C (p.Glu1099Asp) c.3285A>C (p.Glu1095Asp) c.3273A>C (p.Glu1091Asp) c.3240A>C (p.Glu1080Asp) c.3183A>C (p.Glu1061Asp) c.3282A>C (p.Glu1094Asp) c.3258A>C (p.Glu1086Asp) c.3093A>C (p.Glu1031Asp) c.3452A>C (p.Lys1151Thr) c.3428A>C (p.Lys1143Thr) c.3425A>C (p.Lys1142Thr) c.3353A>C (p.Lys1118Thr) c.3338A>C (p.Lys1113Thr) c.3263A>C (p.Lys1088Thr) | |
1 | g.16986294T= | CA1156049467 | ATP13A2 | c.3470A= (p.Lys1157=) c.3168A= (p.Glu1056=) c.3455A= (p.Lys1152=) n.1516A= c.888A= (p.Glu296=) c.3300A= (p.Glu1100=) c.3297A= (p.Glu1099=) c.3285A= (p.Glu1095=) c.3273A= (p.Glu1091=) c.3240A= (p.Glu1080=) c.3183A= (p.Glu1061=) c.3282A= (p.Glu1094=) c.3258A= (p.Glu1086=) c.3093A= (p.Glu1031=) c.3452A= (p.Lys1151=) c.3428A= (p.Lys1143=) c.3425A= (p.Lys1142=) c.3353A= (p.Lys1118=) c.3338A= (p.Lys1113=) c.3263A= (p.Lys1088=) | |
1 | g.16986295T>A | CA338232336 | ATP13A2 | c.3469A>T (p.Lys1157Ter) c.3167A>T (p.Glu1056Val) c.3454A>T (p.Lys1152Ter) n.1515A>T c.887A>T (p.Glu296Val) c.3299A>T (p.Glu1100Val) c.3296A>T (p.Glu1099Val) c.3284A>T (p.Glu1095Val) c.3272A>T (p.Glu1091Val) c.3239A>T (p.Glu1080Val) c.3182A>T (p.Glu1061Val) c.3281A>T (p.Glu1094Val) c.3257A>T (p.Glu1086Val) c.3092A>T (p.Glu1031Val) c.3451A>T (p.Lys1151Ter) c.3427A>T (p.Lys1143Ter) c.3424A>T (p.Lys1142Ter) c.3352A>T (p.Lys1118Ter) c.3337A>T (p.Lys1113Ter) c.3262A>T (p.Lys1088Ter) | |
1 | g.16986295T>C | CA338232337 | ATP13A2 | c.3469A>G (p.Lys1157Glu) c.3167A>G (p.Glu1056Gly) c.3454A>G (p.Lys1152Glu) n.1515A>G c.887A>G (p.Glu296Gly) c.3299A>G (p.Glu1100Gly) c.3296A>G (p.Glu1099Gly) c.3284A>G (p.Glu1095Gly) c.3272A>G (p.Glu1091Gly) c.3239A>G (p.Glu1080Gly) c.3182A>G (p.Glu1061Gly) c.3281A>G (p.Glu1094Gly) c.3257A>G (p.Glu1086Gly) c.3092A>G (p.Glu1031Gly) c.3451A>G (p.Lys1151Glu) c.3427A>G (p.Lys1143Glu) c.3424A>G (p.Lys1142Glu) c.3352A>G (p.Lys1118Glu) c.3337A>G (p.Lys1113Glu) c.3262A>G (p.Lys1088Glu) | |
1 | g.16986295T>G | CA338232339 | ATP13A2 | c.3469A>C (p.Lys1157Gln) c.3167A>C (p.Glu1056Ala) c.3454A>C (p.Lys1152Gln) n.1515A>C c.887A>C (p.Glu296Ala) c.3299A>C (p.Glu1100Ala) c.3296A>C (p.Glu1099Ala) c.3284A>C (p.Glu1095Ala) c.3272A>C (p.Glu1091Ala) c.3239A>C (p.Glu1080Ala) c.3182A>C (p.Glu1061Ala) c.3281A>C (p.Glu1094Ala) c.3257A>C (p.Glu1086Ala) c.3092A>C (p.Glu1031Ala) c.3451A>C (p.Lys1151Gln) c.3427A>C (p.Lys1143Gln) c.3424A>C (p.Lys1142Gln) c.3352A>C (p.Lys1118Gln) c.3337A>C (p.Lys1113Gln) c.3262A>C (p.Lys1088Gln) | |
1 | g.16986296C>A | CA338232340 | ATP13A2 | c.3468G>T (p.Lys1156Asn) c.3166G>T (p.Glu1056Ter) c.3453G>T (p.Lys1151Asn) n.1514G>T c.886G>T (p.Glu296Ter) c.3298G>T (p.Glu1100Ter) c.3295G>T (p.Glu1099Ter) c.3283G>T (p.Glu1095Ter) c.3271G>T (p.Glu1091Ter) c.3238G>T (p.Glu1080Ter) c.3181G>T (p.Glu1061Ter) c.3280G>T (p.Glu1094Ter) c.3256G>T (p.Glu1086Ter) c.3091G>T (p.Glu1031Ter) c.3450G>T (p.Lys1150Asn) c.3426G>T (p.Lys1142Asn) c.3423G>T (p.Lys1141Asn) c.3351G>T (p.Lys1117Asn) c.3336G>T (p.Lys1112Asn) c.3261G>T (p.Lys1087Asn) | |
1 | g.16986296C>G | CA338232341 | ATP13A2 | c.3468G>C (p.Lys1156Asn) c.3166G>C (p.Glu1056Gln) c.3453G>C (p.Lys1151Asn) n.1514G>C c.886G>C (p.Glu296Gln) c.3298G>C (p.Glu1100Gln) c.3295G>C (p.Glu1099Gln) c.3283G>C (p.Glu1095Gln) c.3271G>C (p.Glu1091Gln) c.3238G>C (p.Glu1080Gln) c.3181G>C (p.Glu1061Gln) c.3280G>C (p.Glu1094Gln) c.3256G>C (p.Glu1086Gln) c.3091G>C (p.Glu1031Gln) c.3450G>C (p.Lys1150Asn) c.3426G>C (p.Lys1142Asn) c.3423G>C (p.Lys1141Asn) c.3351G>C (p.Lys1117Asn) c.3336G>C (p.Lys1112Asn) c.3261G>C (p.Lys1087Asn) | |
1 | g.16986296C>T | CA338232342 | ATP13A2 | c.3468G>A (p.Lys1156=) c.3166G>A (p.Glu1056Lys) c.3453G>A (p.Lys1151=) n.1514G>A c.886G>A (p.Glu296Lys) c.3298G>A (p.Glu1100Lys) c.3295G>A (p.Glu1099Lys) c.3283G>A (p.Glu1095Lys) c.3271G>A (p.Glu1091Lys) c.3238G>A (p.Glu1080Lys) c.3181G>A (p.Glu1061Lys) c.3280G>A (p.Glu1094Lys) c.3256G>A (p.Glu1086Lys) c.3091G>A (p.Glu1031Lys) c.3450G>A (p.Lys1150=) c.3426G>A (p.Lys1142=) c.3423G>A (p.Lys1141=) c.3351G>A (p.Lys1117=) c.3336G>A (p.Lys1112=) c.3261G>A (p.Lys1087=) | COSMIC COSMIC |
1 | g.16986297T>A | CA338232343 | ATP13A2 | c.3467A>T (p.Lys1156Met) c.3165A>T (p.Gln1055His) c.3452A>T (p.Lys1151Met) n.1513A>T c.885A>T (p.Gln295His) c.3297A>T (p.Gln1099His) c.3294A>T (p.Gln1098His) c.3282A>T (p.Gln1094His) c.3270A>T (p.Gln1090His) c.3237A>T (p.Gln1079His) c.3180A>T (p.Gln1060His) c.3279A>T (p.Gln1093His) c.3255A>T (p.Gln1085His) c.3090A>T (p.Gln1030His) c.3449A>T (p.Lys1150Met) c.3425A>T (p.Lys1142Met) c.3422A>T (p.Lys1141Met) c.3350A>T (p.Lys1117Met) c.3335A>T (p.Lys1112Met) c.3260A>T (p.Lys1087Met) | |
1 | g.16986297T>C | CA338232345 | ATP13A2 | c.3467A>G (p.Lys1156Arg) c.3165A>G (p.Gln1055=) c.3452A>G (p.Lys1151Arg) n.1513A>G c.885A>G (p.Gln295=) c.3297A>G (p.Gln1099=) c.3294A>G (p.Gln1098=) c.3282A>G (p.Gln1094=) c.3270A>G (p.Gln1090=) c.3237A>G (p.Gln1079=) c.3180A>G (p.Gln1060=) c.3279A>G (p.Gln1093=) c.3255A>G (p.Gln1085=) c.3090A>G (p.Gln1030=) c.3449A>G (p.Lys1150Arg) c.3425A>G (p.Lys1142Arg) c.3422A>G (p.Lys1141Arg) c.3350A>G (p.Lys1117Arg) c.3335A>G (p.Lys1112Arg) c.3260A>G (p.Lys1087Arg) | |
1 | g.16986297T>G | CA338232346 | ATP13A2 | c.3467A>C (p.Lys1156Thr) c.3165A>C (p.Gln1055His) c.3452A>C (p.Lys1151Thr) n.1513A>C c.885A>C (p.Gln295His) c.3297A>C (p.Gln1099His) c.3294A>C (p.Gln1098His) c.3282A>C (p.Gln1094His) c.3270A>C (p.Gln1090His) c.3237A>C (p.Gln1079His) c.3180A>C (p.Gln1060His) c.3279A>C (p.Gln1093His) c.3255A>C (p.Gln1085His) c.3090A>C (p.Gln1030His) c.3449A>C (p.Lys1150Thr) c.3425A>C (p.Lys1142Thr) c.3422A>C (p.Lys1141Thr) c.3350A>C (p.Lys1117Thr) c.3335A>C (p.Lys1112Thr) c.3260A>C (p.Lys1087Thr) | |
1 | g.16986298T>A | CA338232347 | ATP13A2 | c.3466A>T (p.Lys1156Ter) c.3164A>T (p.Gln1055Leu) c.3451A>T (p.Lys1151Ter) n.1512A>T c.884A>T (p.Gln295Leu) c.3296A>T (p.Gln1099Leu) c.3293A>T (p.Gln1098Leu) c.3281A>T (p.Gln1094Leu) c.3269A>T (p.Gln1090Leu) c.3236A>T (p.Gln1079Leu) c.3179A>T (p.Gln1060Leu) c.3278A>T (p.Gln1093Leu) c.3254A>T (p.Gln1085Leu) c.3089A>T (p.Gln1030Leu) c.3448A>T (p.Lys1150Ter) c.3424A>T (p.Lys1142Ter) c.3421A>T (p.Lys1141Ter) c.3349A>T (p.Lys1117Ter) c.3334A>T (p.Lys1112Ter) c.3259A>T (p.Lys1087Ter) | |
1 | g.16986298T>C | CA636475 | ATP13A2 | c.3466A>G (p.Lys1156Glu) c.3164A>G (p.Gln1055Arg) c.3451A>G (p.Lys1151Glu) n.1512A>G c.884A>G (p.Gln295Arg) c.3296A>G (p.Gln1099Arg) c.3293A>G (p.Gln1098Arg) c.3281A>G (p.Gln1094Arg) c.3269A>G (p.Gln1090Arg) c.3236A>G (p.Gln1079Arg) c.3179A>G (p.Gln1060Arg) c.3278A>G (p.Gln1093Arg) c.3254A>G (p.Gln1085Arg) c.3089A>G (p.Gln1030Arg) c.3448A>G (p.Lys1150Glu) c.3424A>G (p.Lys1142Glu) c.3421A>G (p.Lys1141Glu) c.3349A>G (p.Lys1117Glu) c.3334A>G (p.Lys1112Glu) c.3259A>G (p.Lys1087Glu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.16986298T>G | CA338232355 | ATP13A2 | c.3466A>C (p.Lys1156Gln) c.3164A>C (p.Gln1055Pro) c.3451A>C (p.Lys1151Gln) n.1512A>C c.884A>C (p.Gln295Pro) c.3296A>C (p.Gln1099Pro) c.3293A>C (p.Gln1098Pro) c.3281A>C (p.Gln1094Pro) c.3269A>C (p.Gln1090Pro) c.3236A>C (p.Gln1079Pro) c.3179A>C (p.Gln1060Pro) c.3278A>C (p.Gln1093Pro) c.3254A>C (p.Gln1085Pro) c.3089A>C (p.Gln1030Pro) c.3448A>C (p.Lys1150Gln) c.3424A>C (p.Lys1142Gln) c.3421A>C (p.Lys1141Gln) c.3349A>C (p.Lys1117Gln) c.3334A>C (p.Lys1112Gln) c.3259A>C (p.Lys1087Gln) | dbSNP |
1 | g.16986298T= | CA1156049484 | ATP13A2 | c.3466A= (p.Lys1156=) c.3164A= (p.Gln1055=) c.3451A= (p.Lys1151=) n.1512A= c.884A= (p.Gln295=) c.3296A= (p.Gln1099=) c.3293A= (p.Gln1098=) c.3281A= (p.Gln1094=) c.3269A= (p.Gln1090=) c.3236A= (p.Gln1079=) c.3179A= (p.Gln1060=) c.3278A= (p.Gln1093=) c.3254A= (p.Gln1085=) c.3089A= (p.Gln1030=) c.3448A= (p.Lys1150=) c.3424A= (p.Lys1142=) c.3421A= (p.Lys1141=) c.3349A= (p.Lys1117=) c.3334A= (p.Lys1112=) c.3259A= (p.Lys1087=) | |
1 | g.16986299G>A | CA338232368 | ATP13A2 | c.3465C>T (p.Ser1155=) c.3163C>T (p.Gln1055Ter) c.3450C>T (p.Ser1150=) n.1511C>T c.883C>T (p.Gln295Ter) c.3295C>T (p.Gln1099Ter) c.3292C>T (p.Gln1098Ter) c.3280C>T (p.Gln1094Ter) c.3268C>T (p.Gln1090Ter) c.3235C>T (p.Gln1079Ter) c.3178C>T (p.Gln1060Ter) c.3277C>T (p.Gln1093Ter) c.3253C>T (p.Gln1085Ter) c.3088C>T (p.Gln1030Ter) c.3447C>T (p.Ser1149=) c.3423C>T (p.Ser1141=) c.3420C>T (p.Ser1140=) c.3348C>T (p.Ser1116=) c.3333C>T (p.Ser1111=) c.3258C>T (p.Ser1086=) | gnomAD v4 |
1 | g.16986299G>C | CA338232361 | ATP13A2 | c.3465C>G (p.Ser1155=) c.3163C>G (p.Gln1055Glu) c.3450C>G (p.Ser1150=) n.1511C>G c.883C>G (p.Gln295Glu) c.3295C>G (p.Gln1099Glu) c.3292C>G (p.Gln1098Glu) c.3280C>G (p.Gln1094Glu) c.3268C>G (p.Gln1090Glu) c.3235C>G (p.Gln1079Glu) c.3178C>G (p.Gln1060Glu) c.3277C>G (p.Gln1093Glu) c.3253C>G (p.Gln1085Glu) c.3088C>G (p.Gln1030Glu) c.3447C>G (p.Ser1149=) c.3423C>G (p.Ser1141=) c.3420C>G (p.Ser1140=) c.3348C>G (p.Ser1116=) c.3333C>G (p.Ser1111=) c.3258C>G (p.Ser1086=) | |
1 | g.16986299G>T | CA338232363 | ATP13A2 | c.3465C>A (p.Ser1155=) c.3163C>A (p.Gln1055Lys) c.3450C>A (p.Ser1150=) n.1511C>A c.883C>A (p.Gln295Lys) c.3295C>A (p.Gln1099Lys) c.3292C>A (p.Gln1098Lys) c.3280C>A (p.Gln1094Lys) c.3268C>A (p.Gln1090Lys) c.3235C>A (p.Gln1079Lys) c.3178C>A (p.Gln1060Lys) c.3277C>A (p.Gln1093Lys) c.3253C>A (p.Gln1085Lys) c.3088C>A (p.Gln1030Lys) c.3447C>A (p.Ser1149=) c.3423C>A (p.Ser1141=) c.3420C>A (p.Ser1140=) c.3348C>A (p.Ser1116=) c.3333C>A (p.Ser1111=) c.3258C>A (p.Ser1086=) | |
1 | g.16986300G>A | CA338232371 | ATP13A2 | c.3464C>T (p.Ser1155Phe) c.3162C>T (p.Leu1054=) c.3449C>T (p.Ser1150Phe) n.1510C>T c.882C>T (p.Leu294=) c.3294C>T (p.Leu1098=) c.3291C>T (p.Leu1097=) c.3279C>T (p.Leu1093=) c.3267C>T (p.Leu1089=) c.3234C>T (p.Leu1078=) c.3177C>T (p.Leu1059=) c.3276C>T (p.Leu1092=) c.3252C>T (p.Leu1084=) c.3087C>T (p.Leu1029=) c.3446C>T (p.Ser1149Phe) c.3422C>T (p.Ser1141Phe) c.3419C>T (p.Ser1140Phe) c.3347C>T (p.Ser1116Phe) c.3332C>T (p.Ser1111Phe) c.3257C>T (p.Ser1086Phe) | |
1 | g.16986300G>C | CA338232372 | ATP13A2 | c.3464C>G (p.Ser1155Cys) c.3162C>G (p.Leu1054=) c.3449C>G (p.Ser1150Cys) n.1510C>G c.882C>G (p.Leu294=) c.3294C>G (p.Leu1098=) c.3291C>G (p.Leu1097=) c.3279C>G (p.Leu1093=) c.3267C>G (p.Leu1089=) c.3234C>G (p.Leu1078=) c.3177C>G (p.Leu1059=) c.3276C>G (p.Leu1092=) c.3252C>G (p.Leu1084=) c.3087C>G (p.Leu1029=) c.3446C>G (p.Ser1149Cys) c.3422C>G (p.Ser1141Cys) c.3419C>G (p.Ser1140Cys) c.3347C>G (p.Ser1116Cys) c.3332C>G (p.Ser1111Cys) c.3257C>G (p.Ser1086Cys) | |
1 | g.16986300G>T | CA338232373 | ATP13A2 | c.3464C>A (p.Ser1155Tyr) c.3162C>A (p.Leu1054=) c.3449C>A (p.Ser1150Tyr) n.1510C>A c.882C>A (p.Leu294=) c.3294C>A (p.Leu1098=) c.3291C>A (p.Leu1097=) c.3279C>A (p.Leu1093=) c.3267C>A (p.Leu1089=) c.3234C>A (p.Leu1078=) c.3177C>A (p.Leu1059=) c.3276C>A (p.Leu1092=) c.3252C>A (p.Leu1084=) c.3087C>A (p.Leu1029=) c.3446C>A (p.Ser1149Tyr) c.3422C>A (p.Ser1141Tyr) c.3419C>A (p.Ser1140Tyr) c.3347C>A (p.Ser1116Tyr) c.3332C>A (p.Ser1111Tyr) c.3257C>A (p.Ser1086Tyr) | |
1 | g.16986301A>C | CA338232377 | ATP13A2 | c.3463T>G (p.Ser1155Ala) c.3161T>G (p.Leu1054Arg) c.3448T>G (p.Ser1150Ala) n.1509T>G c.881T>G (p.Leu294Arg) c.3293T>G (p.Leu1098Arg) c.3290T>G (p.Leu1097Arg) c.3278T>G (p.Leu1093Arg) c.3266T>G (p.Leu1089Arg) c.3233T>G (p.Leu1078Arg) c.3176T>G (p.Leu1059Arg) c.3275T>G (p.Leu1092Arg) c.3251T>G (p.Leu1084Arg) c.3086T>G (p.Leu1029Arg) c.3445T>G (p.Ser1149Ala) c.3421T>G (p.Ser1141Ala) c.3418T>G (p.Ser1140Ala) c.3346T>G (p.Ser1116Ala) c.3331T>G (p.Ser1111Ala) c.3256T>G (p.Ser1086Ala) | |
1 | g.16986301A>G | CA338232379 | ATP13A2 | c.3463T>C (p.Ser1155Pro) c.3161T>C (p.Leu1054Pro) c.3448T>C (p.Ser1150Pro) n.1509T>C c.881T>C (p.Leu294Pro) c.3293T>C (p.Leu1098Pro) c.3290T>C (p.Leu1097Pro) c.3278T>C (p.Leu1093Pro) c.3266T>C (p.Leu1089Pro) c.3233T>C (p.Leu1078Pro) c.3176T>C (p.Leu1059Pro) c.3275T>C (p.Leu1092Pro) c.3251T>C (p.Leu1084Pro) c.3086T>C (p.Leu1029Pro) c.3445T>C (p.Ser1149Pro) c.3421T>C (p.Ser1141Pro) c.3418T>C (p.Ser1140Pro) c.3346T>C (p.Ser1116Pro) c.3331T>C (p.Ser1111Pro) c.3256T>C (p.Ser1086Pro) | |
1 | g.16986301A>T | CA338232381 | ATP13A2 | c.3463T>A (p.Ser1155Thr) c.3161T>A (p.Leu1054His) c.3448T>A (p.Ser1150Thr) n.1509T>A c.881T>A (p.Leu294His) c.3293T>A (p.Leu1098His) c.3290T>A (p.Leu1097His) c.3278T>A (p.Leu1093His) c.3266T>A (p.Leu1089His) c.3233T>A (p.Leu1078His) c.3176T>A (p.Leu1059His) c.3275T>A (p.Leu1092His) c.3251T>A (p.Leu1084His) c.3086T>A (p.Leu1029His) c.3445T>A (p.Ser1149Thr) c.3421T>A (p.Ser1141Thr) c.3418T>A (p.Ser1140Thr) c.3346T>A (p.Ser1116Thr) c.3331T>A (p.Ser1111Thr) c.3256T>A (p.Ser1086Thr) | |
1 | g.16986302G>A | CA18624704 | ATP13A2 | c.3462C>T (p.Ala1154=) c.3160C>T (p.Leu1054Phe) c.3447C>T (p.Ala1149=) n.1508C>T c.880C>T (p.Leu294Phe) c.3292C>T (p.Leu1098Phe) c.3289C>T (p.Leu1097Phe) c.3277C>T (p.Leu1093Phe) c.3265C>T (p.Leu1089Phe) c.3232C>T (p.Leu1078Phe) c.3175C>T (p.Leu1059Phe) c.3274C>T (p.Leu1092Phe) c.3250C>T (p.Leu1084Phe) c.3085C>T (p.Leu1029Phe) c.3444C>T (p.Ala1148=) c.3420C>T (p.Ala1140=) c.3417C>T (p.Ala1139=) c.3345C>T (p.Ala1115=) c.3330C>T (p.Ala1110=) c.3255C>T (p.Ala1085=) | ClinVar dbSNP gnomAD v4 |
1 | g.16986302G>C | CA338232386 | ATP13A2 | c.3462C>G (p.Ala1154=) c.3160C>G (p.Leu1054Val) c.3447C>G (p.Ala1149=) n.1508C>G c.880C>G (p.Leu294Val) c.3292C>G (p.Leu1098Val) c.3289C>G (p.Leu1097Val) c.3277C>G (p.Leu1093Val) c.3265C>G (p.Leu1089Val) c.3232C>G (p.Leu1078Val) c.3175C>G (p.Leu1059Val) c.3274C>G (p.Leu1092Val) c.3250C>G (p.Leu1084Val) c.3085C>G (p.Leu1029Val) c.3444C>G (p.Ala1148=) c.3420C>G (p.Ala1140=) c.3417C>G (p.Ala1139=) c.3345C>G (p.Ala1115=) c.3330C>G (p.Ala1110=) c.3255C>G (p.Ala1085=) | |
1 | g.16986302G= | CA1156049490 | ATP13A2 | c.3462C= (p.Ala1154=) c.3160C= (p.Leu1054=) c.3447C= (p.Ala1149=) n.1508C= c.880C= (p.Leu294=) c.3292C= (p.Leu1098=) c.3289C= (p.Leu1097=) c.3277C= (p.Leu1093=) c.3265C= (p.Leu1089=) c.3232C= (p.Leu1078=) c.3175C= (p.Leu1059=) c.3274C= (p.Leu1092=) c.3250C= (p.Leu1084=) c.3085C= (p.Leu1029=) c.3444C= (p.Ala1148=) c.3420C= (p.Ala1140=) c.3417C= (p.Ala1139=) c.3345C= (p.Ala1115=) c.3330C= (p.Ala1110=) c.3255C= (p.Ala1085=) | |
1 | g.16986302G>T | CA636476 | ATP13A2 | c.3462C>A (p.Ala1154=) c.3160C>A (p.Leu1054Ile) c.3447C>A (p.Ala1149=) n.1508C>A c.880C>A (p.Leu294Ile) c.3292C>A (p.Leu1098Ile) c.3289C>A (p.Leu1097Ile) c.3277C>A (p.Leu1093Ile) c.3265C>A (p.Leu1089Ile) c.3232C>A (p.Leu1078Ile) c.3175C>A (p.Leu1059Ile) c.3274C>A (p.Leu1092Ile) c.3250C>A (p.Leu1084Ile) c.3085C>A (p.Leu1029Ile) c.3444C>A (p.Ala1148=) c.3420C>A (p.Ala1140=) c.3417C>A (p.Ala1139=) c.3345C>A (p.Ala1115=) c.3330C>A (p.Ala1110=) c.3255C>A (p.Ala1085=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986303G>A | CA338232390 | ATP13A2 | c.3461C>T (p.Ala1154Val) c.3159C>T (p.Gly1053=) c.3446C>T (p.Ala1149Val) n.1507C>T c.879C>T (p.Gly293=) c.3291C>T (p.Gly1097=) c.3288C>T (p.Gly1096=) c.3276C>T (p.Gly1092=) c.3264C>T (p.Gly1088=) c.3231C>T (p.Gly1077=) c.3174C>T (p.Gly1058=) c.3273C>T (p.Gly1091=) c.3249C>T (p.Gly1083=) c.3084C>T (p.Gly1028=) c.3443C>T (p.Ala1148Val) c.3419C>T (p.Ala1140Val) c.3416C>T (p.Ala1139Val) c.3344C>T (p.Ala1115Val) c.3329C>T (p.Ala1110Val) c.3254C>T (p.Ala1085Val) | gnomAD v4 |
1 | g.16986303G>C | CA338232391 | ATP13A2 | c.3461C>G (p.Ala1154Gly) c.3159C>G (p.Gly1053=) c.3446C>G (p.Ala1149Gly) n.1507C>G c.879C>G (p.Gly293=) c.3291C>G (p.Gly1097=) c.3288C>G (p.Gly1096=) c.3276C>G (p.Gly1092=) c.3264C>G (p.Gly1088=) c.3231C>G (p.Gly1077=) c.3174C>G (p.Gly1058=) c.3273C>G (p.Gly1091=) c.3249C>G (p.Gly1083=) c.3084C>G (p.Gly1028=) c.3443C>G (p.Ala1148Gly) c.3419C>G (p.Ala1140Gly) c.3416C>G (p.Ala1139Gly) c.3344C>G (p.Ala1115Gly) c.3329C>G (p.Ala1110Gly) c.3254C>G (p.Ala1085Gly) | gnomAD v4 |
1 | g.16986303G>T | CA338232392 | ATP13A2 | c.3461C>A (p.Ala1154Asp) c.3159C>A (p.Gly1053=) c.3446C>A (p.Ala1149Asp) n.1507C>A c.879C>A (p.Gly293=) c.3291C>A (p.Gly1097=) c.3288C>A (p.Gly1096=) c.3276C>A (p.Gly1092=) c.3264C>A (p.Gly1088=) c.3231C>A (p.Gly1077=) c.3174C>A (p.Gly1058=) c.3273C>A (p.Gly1091=) c.3249C>A (p.Gly1083=) c.3084C>A (p.Gly1028=) c.3443C>A (p.Ala1148Asp) c.3419C>A (p.Ala1140Asp) c.3416C>A (p.Ala1139Asp) c.3344C>A (p.Ala1115Asp) c.3329C>A (p.Ala1110Asp) c.3254C>A (p.Ala1085Asp) | gnomAD v4 |
1 | g.16986304C>A | CA338232394 | ATP13A2 | c.3460G>T (p.Ala1154Ser) c.3158G>T (p.Gly1053Val) c.3445G>T (p.Ala1149Ser) n.1506G>T c.878G>T (p.Gly293Val) c.3290G>T (p.Gly1097Val) c.3287G>T (p.Gly1096Val) c.3275G>T (p.Gly1092Val) c.3263G>T (p.Gly1088Val) c.3230G>T (p.Gly1077Val) c.3173G>T (p.Gly1058Val) c.3272G>T (p.Gly1091Val) c.3248G>T (p.Gly1083Val) c.3083G>T (p.Gly1028Val) c.3442G>T (p.Ala1148Ser) c.3418G>T (p.Ala1140Ser) c.3415G>T (p.Ala1139Ser) c.3343G>T (p.Ala1115Ser) c.3328G>T (p.Ala1110Ser) c.3253G>T (p.Ala1085Ser) | gnomAD v4 |
1 | g.16986304C= | CA1156049497 | ATP13A2 | c.3460G= (p.Ala1154=) c.3158G= (p.Gly1053=) c.3445G= (p.Ala1149=) n.1506G= c.878G= (p.Gly293=) c.3290G= (p.Gly1097=) c.3287G= (p.Gly1096=) c.3275G= (p.Gly1092=) c.3263G= (p.Gly1088=) c.3230G= (p.Gly1077=) c.3173G= (p.Gly1058=) c.3272G= (p.Gly1091=) c.3248G= (p.Gly1083=) c.3083G= (p.Gly1028=) c.3442G= (p.Ala1148=) c.3418G= (p.Ala1140=) c.3415G= (p.Ala1139=) c.3343G= (p.Ala1115=) c.3328G= (p.Ala1110=) c.3253G= (p.Ala1085=) | |
1 | g.16986304C>G | CA18624716 | ATP13A2 | c.3460G>C (p.Ala1154Pro) c.3158G>C (p.Gly1053Ala) c.3445G>C (p.Ala1149Pro) n.1506G>C c.878G>C (p.Gly293Ala) c.3290G>C (p.Gly1097Ala) c.3287G>C (p.Gly1096Ala) c.3275G>C (p.Gly1092Ala) c.3263G>C (p.Gly1088Ala) c.3230G>C (p.Gly1077Ala) c.3173G>C (p.Gly1058Ala) c.3272G>C (p.Gly1091Ala) c.3248G>C (p.Gly1083Ala) c.3083G>C (p.Gly1028Ala) c.3442G>C (p.Ala1148Pro) c.3418G>C (p.Ala1140Pro) c.3415G>C (p.Ala1139Pro) c.3343G>C (p.Ala1115Pro) c.3328G>C (p.Ala1110Pro) c.3253G>C (p.Ala1085Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986304C>T | CA18624729 | ATP13A2 | c.3460G>A (p.Ala1154Thr) c.3158G>A (p.Gly1053Asp) c.3445G>A (p.Ala1149Thr) n.1506G>A c.878G>A (p.Gly293Asp) c.3290G>A (p.Gly1097Asp) c.3287G>A (p.Gly1096Asp) c.3275G>A (p.Gly1092Asp) c.3263G>A (p.Gly1088Asp) c.3230G>A (p.Gly1077Asp) c.3173G>A (p.Gly1058Asp) c.3272G>A (p.Gly1091Asp) c.3248G>A (p.Gly1083Asp) c.3083G>A (p.Gly1028Asp) c.3442G>A (p.Ala1148Thr) c.3418G>A (p.Ala1140Thr) c.3415G>A (p.Ala1139Thr) c.3343G>A (p.Ala1115Thr) c.3328G>A (p.Ala1110Thr) c.3253G>A (p.Ala1085Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986305C>A | CA338232397 | ATP13A2 | c.3459G>T (p.Arg1153=) c.3157G>T (p.Gly1053Cys) c.3444G>T (p.Arg1148=) n.1505G>T c.877G>T (p.Gly293Cys) c.3289G>T (p.Gly1097Cys) c.3286G>T (p.Gly1096Cys) c.3274G>T (p.Gly1092Cys) c.3262G>T (p.Gly1088Cys) c.3229G>T (p.Gly1077Cys) c.3172G>T (p.Gly1058Cys) c.3271G>T (p.Gly1091Cys) c.3247G>T (p.Gly1083Cys) c.3082G>T (p.Gly1028Cys) c.3441G>T (p.Arg1147=) c.3417G>T (p.Arg1139=) c.3414G>T (p.Arg1138=) c.3342G>T (p.Arg1114=) c.3327G>T (p.Arg1109=) c.3252G>T (p.Arg1084=) | |
1 | g.16986305C= | CA1156049502 | ATP13A2 | c.3459G= (p.Arg1153=) c.3157G= (p.Gly1053=) c.3444G= (p.Arg1148=) n.1505G= c.877G= (p.Gly293=) c.3289G= (p.Gly1097=) c.3286G= (p.Gly1096=) c.3274G= (p.Gly1092=) c.3262G= (p.Gly1088=) c.3229G= (p.Gly1077=) c.3172G= (p.Gly1058=) c.3271G= (p.Gly1091=) c.3247G= (p.Gly1083=) c.3082G= (p.Gly1028=) c.3441G= (p.Arg1147=) c.3417G= (p.Arg1139=) c.3414G= (p.Arg1138=) c.3342G= (p.Arg1114=) c.3327G= (p.Arg1109=) c.3252G= (p.Arg1084=) | |
1 | g.16986305C>G | CA338232395 | ATP13A2 | c.3459G>C (p.Arg1153=) c.3157G>C (p.Gly1053Arg) c.3444G>C (p.Arg1148=) n.1505G>C c.877G>C (p.Gly293Arg) c.3289G>C (p.Gly1097Arg) c.3286G>C (p.Gly1096Arg) c.3274G>C (p.Gly1092Arg) c.3262G>C (p.Gly1088Arg) c.3229G>C (p.Gly1077Arg) c.3172G>C (p.Gly1058Arg) c.3271G>C (p.Gly1091Arg) c.3247G>C (p.Gly1083Arg) c.3082G>C (p.Gly1028Arg) c.3441G>C (p.Arg1147=) c.3417G>C (p.Arg1139=) c.3414G>C (p.Arg1138=) c.3342G>C (p.Arg1114=) c.3327G>C (p.Arg1109=) c.3252G>C (p.Arg1084=) | |
1 | g.16986305C>T | CA636477 | ATP13A2 | c.3459G>A (p.Arg1153=) c.3157G>A (p.Gly1053Ser) c.3444G>A (p.Arg1148=) n.1505G>A c.877G>A (p.Gly293Ser) c.3289G>A (p.Gly1097Ser) c.3286G>A (p.Gly1096Ser) c.3274G>A (p.Gly1092Ser) c.3262G>A (p.Gly1088Ser) c.3229G>A (p.Gly1077Ser) c.3172G>A (p.Gly1058Ser) c.3271G>A (p.Gly1091Ser) c.3247G>A (p.Gly1083Ser) c.3082G>A (p.Gly1028Ser) c.3441G>A (p.Arg1147=) c.3417G>A (p.Arg1139=) c.3414G>A (p.Arg1138=) c.3342G>A (p.Arg1114=) c.3327G>A (p.Arg1109=) c.3252G>A (p.Arg1084=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986306C>A | CA338232398 | ATP13A2 | c.3458G>T (p.Arg1153Leu) c.3156G>T (p.Ala1052=) c.3443G>T (p.Arg1148Leu) n.1504G>T c.876G>T (p.Ala292=) c.3288G>T (p.Ala1096=) c.3285G>T (p.Ala1095=) c.3273G>T (p.Ala1091=) c.3261G>T (p.Ala1087=) c.3228G>T (p.Ala1076=) c.3171G>T (p.Ala1057=) c.3270G>T (p.Ala1090=) c.3246G>T (p.Ala1082=) c.3081G>T (p.Ala1027=) c.3440G>T (p.Arg1147Leu) c.3416G>T (p.Arg1139Leu) c.3413G>T (p.Arg1138Leu) c.3341G>T (p.Arg1114Leu) c.3326G>T (p.Arg1109Leu) c.3251G>T (p.Arg1084Leu) | gnomAD v4 |
1 | g.16986306C= | CA1156049511 | ATP13A2 | c.3458G= (p.Arg1153=) c.3156G= (p.Ala1052=) c.3443G= (p.Arg1148=) n.1504G= c.876G= (p.Ala292=) c.3288G= (p.Ala1096=) c.3285G= (p.Ala1095=) c.3273G= (p.Ala1091=) c.3261G= (p.Ala1087=) c.3228G= (p.Ala1076=) c.3171G= (p.Ala1057=) c.3270G= (p.Ala1090=) c.3246G= (p.Ala1082=) c.3081G= (p.Ala1027=) c.3440G= (p.Arg1147=) c.3416G= (p.Arg1139=) c.3413G= (p.Arg1138=) c.3341G= (p.Arg1114=) c.3326G= (p.Arg1109=) c.3251G= (p.Arg1084=) | |
1 | g.16986306C>G | CA338232399 | ATP13A2 | c.3458G>C (p.Arg1153Pro) c.3156G>C (p.Ala1052=) c.3443G>C (p.Arg1148Pro) n.1504G>C c.876G>C (p.Ala292=) c.3288G>C (p.Ala1096=) c.3285G>C (p.Ala1095=) c.3273G>C (p.Ala1091=) c.3261G>C (p.Ala1087=) c.3228G>C (p.Ala1076=) c.3171G>C (p.Ala1057=) c.3270G>C (p.Ala1090=) c.3246G>C (p.Ala1082=) c.3081G>C (p.Ala1027=) c.3440G>C (p.Arg1147Pro) c.3416G>C (p.Arg1139Pro) c.3413G>C (p.Arg1138Pro) c.3341G>C (p.Arg1114Pro) c.3326G>C (p.Arg1109Pro) c.3251G>C (p.Arg1084Pro) | ClinVar dbSNP gnomAD v4 |
1 | g.16986306C>T | CA636478 | ATP13A2 | c.3458G>A (p.Arg1153Gln) c.3156G>A (p.Ala1052=) c.3443G>A (p.Arg1148Gln) n.1504G>A c.876G>A (p.Ala292=) c.3288G>A (p.Ala1096=) c.3285G>A (p.Ala1095=) c.3273G>A (p.Ala1091=) c.3261G>A (p.Ala1087=) c.3228G>A (p.Ala1076=) c.3171G>A (p.Ala1057=) c.3270G>A (p.Ala1090=) c.3246G>A (p.Ala1082=) c.3081G>A (p.Ala1027=) c.3440G>A (p.Arg1147Gln) c.3416G>A (p.Arg1139Gln) c.3413G>A (p.Arg1138Gln) c.3341G>A (p.Arg1114Gln) c.3326G>A (p.Arg1109Gln) c.3251G>A (p.Arg1084Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986307G>A | CA338232402 | ATP13A2 | c.3457C>T (p.Arg1153Trp) c.3155C>T (p.Ala1052Val) c.3442C>T (p.Arg1148Trp) n.1503C>T c.875C>T (p.Ala292Val) c.3287C>T (p.Ala1096Val) c.3284C>T (p.Ala1095Val) c.3272C>T (p.Ala1091Val) c.3260C>T (p.Ala1087Val) c.3227C>T (p.Ala1076Val) c.3170C>T (p.Ala1057Val) c.3269C>T (p.Ala1090Val) c.3245C>T (p.Ala1082Val) c.3080C>T (p.Ala1027Val) c.3439C>T (p.Arg1147Trp) c.3415C>T (p.Arg1139Trp) c.3412C>T (p.Arg1138Trp) c.3340C>T (p.Arg1114Trp) c.3325C>T (p.Arg1109Trp) c.3250C>T (p.Arg1084Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986307G>C | CA338232401 | ATP13A2 | c.3457C>G (p.Arg1153Gly) c.3155C>G (p.Ala1052Gly) c.3442C>G (p.Arg1148Gly) n.1503C>G c.875C>G (p.Ala292Gly) c.3287C>G (p.Ala1096Gly) c.3284C>G (p.Ala1095Gly) c.3272C>G (p.Ala1091Gly) c.3260C>G (p.Ala1087Gly) c.3227C>G (p.Ala1076Gly) c.3170C>G (p.Ala1057Gly) c.3269C>G (p.Ala1090Gly) c.3245C>G (p.Ala1082Gly) c.3080C>G (p.Ala1027Gly) c.3439C>G (p.Arg1147Gly) c.3415C>G (p.Arg1139Gly) c.3412C>G (p.Arg1138Gly) c.3340C>G (p.Arg1114Gly) c.3325C>G (p.Arg1109Gly) c.3250C>G (p.Arg1084Gly) | |
1 | g.16986307G= | CA1156049520 | ATP13A2 | c.3457C= (p.Arg1153=) c.3155C= (p.Ala1052=) c.3442C= (p.Arg1148=) n.1503C= c.875C= (p.Ala292=) c.3287C= (p.Ala1096=) c.3284C= (p.Ala1095=) c.3272C= (p.Ala1091=) c.3260C= (p.Ala1087=) c.3227C= (p.Ala1076=) c.3170C= (p.Ala1057=) c.3269C= (p.Ala1090=) c.3245C= (p.Ala1082=) c.3080C= (p.Ala1027=) c.3439C= (p.Arg1147=) c.3415C= (p.Arg1139=) c.3412C= (p.Arg1138=) c.3340C= (p.Arg1114=) c.3325C= (p.Arg1109=) c.3250C= (p.Arg1084=) | |
1 | g.16986307G>T | CA338232400 | ATP13A2 | c.3457C>A (p.Arg1153=) c.3155C>A (p.Ala1052Glu) c.3442C>A (p.Arg1148=) n.1503C>A c.875C>A (p.Ala292Glu) c.3287C>A (p.Ala1096Glu) c.3284C>A (p.Ala1095Glu) c.3272C>A (p.Ala1091Glu) c.3260C>A (p.Ala1087Glu) c.3227C>A (p.Ala1076Glu) c.3170C>A (p.Ala1057Glu) c.3269C>A (p.Ala1090Glu) c.3245C>A (p.Ala1082Glu) c.3080C>A (p.Ala1027Glu) c.3439C>A (p.Arg1147=) c.3415C>A (p.Arg1139=) c.3412C>A (p.Arg1138=) c.3340C>A (p.Arg1114=) c.3325C>A (p.Arg1109=) c.3250C>A (p.Arg1084=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986308C>A | CA338232403 | ATP13A2 | c.3456G>T (p.Lys1152Asn) c.3154G>T (p.Ala1052Ser) c.3441G>T (p.Lys1147Asn) n.1502G>T c.874G>T (p.Ala292Ser) c.3286G>T (p.Ala1096Ser) c.3283G>T (p.Ala1095Ser) c.3271G>T (p.Ala1091Ser) c.3259G>T (p.Ala1087Ser) c.3226G>T (p.Ala1076Ser) c.3169G>T (p.Ala1057Ser) c.3268G>T (p.Ala1090Ser) c.3244G>T (p.Ala1082Ser) c.3079G>T (p.Ala1027Ser) c.3438G>T (p.Lys1146Asn) c.3414G>T (p.Lys1138Asn) c.3411G>T (p.Lys1137Asn) c.3339G>T (p.Lys1113Asn) c.3324G>T (p.Lys1108Asn) c.3249G>T (p.Lys1083Asn) | gnomAD v4 |
1 | g.16986308C= | CA1156049527 | ATP13A2 | c.3456G= (p.Lys1152=) c.3154G= (p.Ala1052=) c.3441G= (p.Lys1147=) n.1502G= c.874G= (p.Ala292=) c.3286G= (p.Ala1096=) c.3283G= (p.Ala1095=) c.3271G= (p.Ala1091=) c.3259G= (p.Ala1087=) c.3226G= (p.Ala1076=) c.3169G= (p.Ala1057=) c.3268G= (p.Ala1090=) c.3244G= (p.Ala1082=) c.3079G= (p.Ala1027=) c.3438G= (p.Lys1146=) c.3414G= (p.Lys1138=) c.3411G= (p.Lys1137=) c.3339G= (p.Lys1113=) c.3324G= (p.Lys1108=) c.3249G= (p.Lys1083=) | |
1 | g.16986308C>G | CA18624748 | ATP13A2 | c.3456G>C (p.Lys1152Asn) c.3154G>C (p.Ala1052Pro) c.3441G>C (p.Lys1147Asn) n.1502G>C c.874G>C (p.Ala292Pro) c.3286G>C (p.Ala1096Pro) c.3283G>C (p.Ala1095Pro) c.3271G>C (p.Ala1091Pro) c.3259G>C (p.Ala1087Pro) c.3226G>C (p.Ala1076Pro) c.3169G>C (p.Ala1057Pro) c.3268G>C (p.Ala1090Pro) c.3244G>C (p.Ala1082Pro) c.3079G>C (p.Ala1027Pro) c.3438G>C (p.Lys1146Asn) c.3414G>C (p.Lys1138Asn) c.3411G>C (p.Lys1137Asn) c.3339G>C (p.Lys1113Asn) c.3324G>C (p.Lys1108Asn) c.3249G>C (p.Lys1083Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986308C>T | CA338232404 | ATP13A2 | c.3456G>A (p.Lys1152=) c.3154G>A (p.Ala1052Thr) c.3441G>A (p.Lys1147=) n.1502G>A c.874G>A (p.Ala292Thr) c.3286G>A (p.Ala1096Thr) c.3283G>A (p.Ala1095Thr) c.3271G>A (p.Ala1091Thr) c.3259G>A (p.Ala1087Thr) c.3226G>A (p.Ala1076Thr) c.3169G>A (p.Ala1057Thr) c.3268G>A (p.Ala1090Thr) c.3244G>A (p.Ala1082Thr) c.3079G>A (p.Ala1027Thr) c.3438G>A (p.Lys1146=) c.3414G>A (p.Lys1138=) c.3411G>A (p.Lys1137=) c.3339G>A (p.Lys1113=) c.3324G>A (p.Lys1108=) c.3249G>A (p.Lys1083=) | |
1 | g.16986309T>A | CA338232405 | ATP13A2 | c.3455A>T (p.Lys1152Met) c.3153A>T (p.Gln1051His) c.3440A>T (p.Lys1147Met) n.1501A>T c.873A>T (p.Gln291His) c.3285A>T (p.Gln1095His) c.3282A>T (p.Gln1094His) c.3270A>T (p.Gln1090His) c.3258A>T (p.Gln1086His) c.3225A>T (p.Gln1075His) c.3168A>T (p.Gln1056His) c.3267A>T (p.Gln1089His) c.3243A>T (p.Gln1081His) c.3078A>T (p.Gln1026His) c.3437A>T (p.Lys1146Met) c.3413A>T (p.Lys1138Met) c.3410A>T (p.Lys1137Met) c.3338A>T (p.Lys1113Met) c.3323A>T (p.Lys1108Met) c.3248A>T (p.Lys1083Met) | |
1 | g.16986309T>C | CA338232406 | ATP13A2 | c.3455A>G (p.Lys1152Arg) c.3153A>G (p.Gln1051=) c.3440A>G (p.Lys1147Arg) n.1501A>G c.873A>G (p.Gln291=) c.3285A>G (p.Gln1095=) c.3282A>G (p.Gln1094=) c.3270A>G (p.Gln1090=) c.3258A>G (p.Gln1086=) c.3225A>G (p.Gln1075=) c.3168A>G (p.Gln1056=) c.3267A>G (p.Gln1089=) c.3243A>G (p.Gln1081=) c.3078A>G (p.Gln1026=) c.3437A>G (p.Lys1146Arg) c.3413A>G (p.Lys1138Arg) c.3410A>G (p.Lys1137Arg) c.3338A>G (p.Lys1113Arg) c.3323A>G (p.Lys1108Arg) c.3248A>G (p.Lys1083Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986309T>G | CA338232407 | ATP13A2 | c.3455A>C (p.Lys1152Thr) c.3153A>C (p.Gln1051His) c.3440A>C (p.Lys1147Thr) n.1501A>C c.873A>C (p.Gln291His) c.3285A>C (p.Gln1095His) c.3282A>C (p.Gln1094His) c.3270A>C (p.Gln1090His) c.3258A>C (p.Gln1086His) c.3225A>C (p.Gln1075His) c.3168A>C (p.Gln1056His) c.3267A>C (p.Gln1089His) c.3243A>C (p.Gln1081His) c.3078A>C (p.Gln1026His) c.3437A>C (p.Lys1146Thr) c.3413A>C (p.Lys1138Thr) c.3410A>C (p.Lys1137Thr) c.3338A>C (p.Lys1113Thr) c.3323A>C (p.Lys1108Thr) c.3248A>C (p.Lys1083Thr) | |
1 | g.16986309T= | CA1156049529 | ATP13A2 | c.3455A= (p.Lys1152=) c.3153A= (p.Gln1051=) c.3440A= (p.Lys1147=) n.1501A= c.873A= (p.Gln291=) c.3285A= (p.Gln1095=) c.3282A= (p.Gln1094=) c.3270A= (p.Gln1090=) c.3258A= (p.Gln1086=) c.3225A= (p.Gln1075=) c.3168A= (p.Gln1056=) c.3267A= (p.Gln1089=) c.3243A= (p.Gln1081=) c.3078A= (p.Gln1026=) c.3437A= (p.Lys1146=) c.3413A= (p.Lys1138=) c.3410A= (p.Lys1137=) c.3338A= (p.Lys1113=) c.3323A= (p.Lys1108=) c.3248A= (p.Lys1083=) | |
1 | g.16986310T>A | CA338232408 | ATP13A2 | c.3454A>T (p.Lys1152Ter) c.3152A>T (p.Gln1051Leu) c.3439A>T (p.Lys1147Ter) n.1500A>T c.872A>T (p.Gln291Leu) c.3284A>T (p.Gln1095Leu) c.3281A>T (p.Gln1094Leu) c.3269A>T (p.Gln1090Leu) c.3257A>T (p.Gln1086Leu) c.3224A>T (p.Gln1075Leu) c.3167A>T (p.Gln1056Leu) c.3266A>T (p.Gln1089Leu) c.3242A>T (p.Gln1081Leu) c.3077A>T (p.Gln1026Leu) c.3436A>T (p.Lys1146Ter) c.3412A>T (p.Lys1138Ter) c.3409A>T (p.Lys1137Ter) c.3337A>T (p.Lys1113Ter) c.3322A>T (p.Lys1108Ter) c.3247A>T (p.Lys1083Ter) | |
1 | g.16986310T>C | CA338232410 | ATP13A2 | c.3454A>G (p.Lys1152Glu) c.3152A>G (p.Gln1051Arg) c.3439A>G (p.Lys1147Glu) n.1500A>G c.872A>G (p.Gln291Arg) c.3284A>G (p.Gln1095Arg) c.3281A>G (p.Gln1094Arg) c.3269A>G (p.Gln1090Arg) c.3257A>G (p.Gln1086Arg) c.3224A>G (p.Gln1075Arg) c.3167A>G (p.Gln1056Arg) c.3266A>G (p.Gln1089Arg) c.3242A>G (p.Gln1081Arg) c.3077A>G (p.Gln1026Arg) c.3436A>G (p.Lys1146Glu) c.3412A>G (p.Lys1138Glu) c.3409A>G (p.Lys1137Glu) c.3337A>G (p.Lys1113Glu) c.3322A>G (p.Lys1108Glu) c.3247A>G (p.Lys1083Glu) | |
1 | g.16986310T>G | CA338232409 | ATP13A2 | c.3454A>C (p.Lys1152Gln) c.3152A>C (p.Gln1051Pro) c.3439A>C (p.Lys1147Gln) n.1500A>C c.872A>C (p.Gln291Pro) c.3284A>C (p.Gln1095Pro) c.3281A>C (p.Gln1094Pro) c.3269A>C (p.Gln1090Pro) c.3257A>C (p.Gln1086Pro) c.3224A>C (p.Gln1075Pro) c.3167A>C (p.Gln1056Pro) c.3266A>C (p.Gln1089Pro) c.3242A>C (p.Gln1081Pro) c.3077A>C (p.Gln1026Pro) c.3436A>C (p.Lys1146Gln) c.3412A>C (p.Lys1138Gln) c.3409A>C (p.Lys1137Gln) c.3337A>C (p.Lys1113Gln) c.3322A>C (p.Lys1108Gln) c.3247A>C (p.Lys1083Gln) | |
1 | g.16986311G>A | CA338232411 | ATP13A2 | c.3453C>T (p.Pro1151=) c.3151C>T (p.Gln1051Ter) c.3438C>T (p.Pro1146=) n.1499C>T c.871C>T (p.Gln291Ter) c.3283C>T (p.Gln1095Ter) c.3280C>T (p.Gln1094Ter) c.3268C>T (p.Gln1090Ter) c.3256C>T (p.Gln1086Ter) c.3223C>T (p.Gln1075Ter) c.3166C>T (p.Gln1056Ter) c.3265C>T (p.Gln1089Ter) c.3241C>T (p.Gln1081Ter) c.3076C>T (p.Gln1026Ter) c.3435C>T (p.Pro1145=) c.3411C>T (p.Pro1137=) c.3408C>T (p.Pro1136=) c.3336C>T (p.Pro1112=) c.3321C>T (p.Pro1107=) c.3246C>T (p.Pro1082=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986311G>C | CA338232412 | ATP13A2 | c.3453C>G (p.Pro1151=) c.3151C>G (p.Gln1051Glu) c.3438C>G (p.Pro1146=) n.1499C>G c.871C>G (p.Gln291Glu) c.3283C>G (p.Gln1095Glu) c.3280C>G (p.Gln1094Glu) c.3268C>G (p.Gln1090Glu) c.3256C>G (p.Gln1086Glu) c.3223C>G (p.Gln1075Glu) c.3166C>G (p.Gln1056Glu) c.3265C>G (p.Gln1089Glu) c.3241C>G (p.Gln1081Glu) c.3076C>G (p.Gln1026Glu) c.3435C>G (p.Pro1145=) c.3411C>G (p.Pro1137=) c.3408C>G (p.Pro1136=) c.3336C>G (p.Pro1112=) c.3321C>G (p.Pro1107=) c.3246C>G (p.Pro1082=) | |
1 | g.16986311G= | CA1143374023 | ATP13A2 | c.3453C= (p.Pro1151=) c.3151C= (p.Gln1051=) c.3438C= (p.Pro1146=) n.1499C= c.871C= (p.Gln291=) c.3283C= (p.Gln1095=) c.3280C= (p.Gln1094=) c.3268C= (p.Gln1090=) c.3256C= (p.Gln1086=) c.3223C= (p.Gln1075=) c.3166C= (p.Gln1056=) c.3265C= (p.Gln1089=) c.3241C= (p.Gln1081=) c.3076C= (p.Gln1026=) c.3435C= (p.Pro1145=) c.3411C= (p.Pro1137=) c.3408C= (p.Pro1136=) c.3336C= (p.Pro1112=) c.3321C= (p.Pro1107=) c.3246C= (p.Pro1082=) | |
1 | g.16986311G>T | CA18624750 | ATP13A2 | c.3453C>A (p.Pro1151=) c.3151C>A (p.Gln1051Lys) c.3438C>A (p.Pro1146=) n.1499C>A c.871C>A (p.Gln291Lys) c.3283C>A (p.Gln1095Lys) c.3280C>A (p.Gln1094Lys) c.3268C>A (p.Gln1090Lys) c.3256C>A (p.Gln1086Lys) c.3223C>A (p.Gln1075Lys) c.3166C>A (p.Gln1056Lys) c.3265C>A (p.Gln1089Lys) c.3241C>A (p.Gln1081Lys) c.3076C>A (p.Gln1026Lys) c.3435C>A (p.Pro1145=) c.3411C>A (p.Pro1137=) c.3408C>A (p.Pro1136=) c.3336C>A (p.Pro1112=) c.3321C>A (p.Pro1107=) c.3246C>A (p.Pro1082=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986312G>A | CA338232413 | ATP13A2 | c.3452C>T (p.Pro1151Leu) c.3150C>T (p.Ala1050=) c.3437C>T (p.Pro1146Leu) n.1498C>T c.870C>T (p.Ala290=) c.3282C>T (p.Ala1094=) c.3279C>T (p.Ala1093=) c.3267C>T (p.Ala1089=) c.3255C>T (p.Ala1085=) c.3222C>T (p.Ala1074=) c.3165C>T (p.Ala1055=) c.3264C>T (p.Ala1088=) c.3240C>T (p.Ala1080=) c.3075C>T (p.Ala1025=) c.3434C>T (p.Pro1145Leu) c.3410C>T (p.Pro1137Leu) c.3407C>T (p.Pro1136Leu) c.3335C>T (p.Pro1112Leu) c.3320C>T (p.Pro1107Leu) c.3245C>T (p.Pro1082Leu) | COSMIC COSMIC |
1 | g.16986312G>C | CA338232414 | ATP13A2 | c.3452C>G (p.Pro1151Arg) c.3150C>G (p.Ala1050=) c.3437C>G (p.Pro1146Arg) n.1498C>G c.870C>G (p.Ala290=) c.3282C>G (p.Ala1094=) c.3279C>G (p.Ala1093=) c.3267C>G (p.Ala1089=) c.3255C>G (p.Ala1085=) c.3222C>G (p.Ala1074=) c.3165C>G (p.Ala1055=) c.3264C>G (p.Ala1088=) c.3240C>G (p.Ala1080=) c.3075C>G (p.Ala1025=) c.3434C>G (p.Pro1145Arg) c.3410C>G (p.Pro1137Arg) c.3407C>G (p.Pro1136Arg) c.3335C>G (p.Pro1112Arg) c.3320C>G (p.Pro1107Arg) c.3245C>G (p.Pro1082Arg) | |
1 | g.16986312G>T | CA338232415 | ATP13A2 | c.3452C>A (p.Pro1151His) c.3150C>A (p.Ala1050=) c.3437C>A (p.Pro1146His) n.1498C>A c.870C>A (p.Ala290=) c.3282C>A (p.Ala1094=) c.3279C>A (p.Ala1093=) c.3267C>A (p.Ala1089=) c.3255C>A (p.Ala1085=) c.3222C>A (p.Ala1074=) c.3165C>A (p.Ala1055=) c.3264C>A (p.Ala1088=) c.3240C>A (p.Ala1080=) c.3075C>A (p.Ala1025=) c.3434C>A (p.Pro1145His) c.3410C>A (p.Pro1137His) c.3407C>A (p.Pro1136His) c.3335C>A (p.Pro1112His) c.3320C>A (p.Pro1107His) c.3245C>A (p.Pro1082His) | |
1 | g.16986313G>A | CA338232416 | ATP13A2 | c.3451C>T (p.Pro1151Ser) c.3149C>T (p.Ala1050Val) c.3436C>T (p.Pro1146Ser) n.1497C>T c.869C>T (p.Ala290Val) c.3281C>T (p.Ala1094Val) c.3278C>T (p.Ala1093Val) c.3266C>T (p.Ala1089Val) c.3254C>T (p.Ala1085Val) c.3221C>T (p.Ala1074Val) c.3164C>T (p.Ala1055Val) c.3263C>T (p.Ala1088Val) c.3239C>T (p.Ala1080Val) c.3074C>T (p.Ala1025Val) c.3433C>T (p.Pro1145Ser) c.3409C>T (p.Pro1137Ser) c.3406C>T (p.Pro1136Ser) c.3334C>T (p.Pro1112Ser) c.3319C>T (p.Pro1107Ser) c.3244C>T (p.Pro1082Ser) | |
1 | g.16986313G>C | CA338232417 | ATP13A2 | c.3451C>G (p.Pro1151Ala) c.3149C>G (p.Ala1050Gly) c.3436C>G (p.Pro1146Ala) n.1497C>G c.869C>G (p.Ala290Gly) c.3281C>G (p.Ala1094Gly) c.3278C>G (p.Ala1093Gly) c.3266C>G (p.Ala1089Gly) c.3254C>G (p.Ala1085Gly) c.3221C>G (p.Ala1074Gly) c.3164C>G (p.Ala1055Gly) c.3263C>G (p.Ala1088Gly) c.3239C>G (p.Ala1080Gly) c.3074C>G (p.Ala1025Gly) c.3433C>G (p.Pro1145Ala) c.3409C>G (p.Pro1137Ala) c.3406C>G (p.Pro1136Ala) c.3334C>G (p.Pro1112Ala) c.3319C>G (p.Pro1107Ala) c.3244C>G (p.Pro1082Ala) | |
1 | g.16986313G>T | CA338232418 | ATP13A2 | c.3451C>A (p.Pro1151Thr) c.3149C>A (p.Ala1050Asp) c.3436C>A (p.Pro1146Thr) n.1497C>A c.869C>A (p.Ala290Asp) c.3281C>A (p.Ala1094Asp) c.3278C>A (p.Ala1093Asp) c.3266C>A (p.Ala1089Asp) c.3254C>A (p.Ala1085Asp) c.3221C>A (p.Ala1074Asp) c.3164C>A (p.Ala1055Asp) c.3263C>A (p.Ala1088Asp) c.3239C>A (p.Ala1080Asp) c.3074C>A (p.Ala1025Asp) c.3433C>A (p.Pro1145Thr) c.3409C>A (p.Pro1137Thr) c.3406C>A (p.Pro1136Thr) c.3334C>A (p.Pro1112Thr) c.3319C>A (p.Pro1107Thr) c.3244C>A (p.Pro1082Thr) | |
1 | g.16986314C>A | CA338232419 | ATP13A2 | c.3450G>T (p.Arg1150=) c.3148G>T (p.Ala1050Ser) c.3435G>T (p.Arg1145=) n.1496G>T c.868G>T (p.Ala290Ser) c.3280G>T (p.Ala1094Ser) c.3277G>T (p.Ala1093Ser) c.3265G>T (p.Ala1089Ser) c.3253G>T (p.Ala1085Ser) c.3220G>T (p.Ala1074Ser) c.3163G>T (p.Ala1055Ser) c.3262G>T (p.Ala1088Ser) c.3238G>T (p.Ala1080Ser) c.3073G>T (p.Ala1025Ser) c.3432G>T (p.Arg1144=) c.3408G>T (p.Arg1136=) c.3405G>T (p.Arg1135=) c.3333G>T (p.Arg1111=) c.3318G>T (p.Arg1106=) c.3243G>T (p.Arg1081=) | gnomAD v4 |
1 | g.16986314C>G | CA338232420 | ATP13A2 | c.3450G>C (p.Arg1150=) c.3148G>C (p.Ala1050Pro) c.3435G>C (p.Arg1145=) n.1496G>C c.868G>C (p.Ala290Pro) c.3280G>C (p.Ala1094Pro) c.3277G>C (p.Ala1093Pro) c.3265G>C (p.Ala1089Pro) c.3253G>C (p.Ala1085Pro) c.3220G>C (p.Ala1074Pro) c.3163G>C (p.Ala1055Pro) c.3262G>C (p.Ala1088Pro) c.3238G>C (p.Ala1080Pro) c.3073G>C (p.Ala1025Pro) c.3432G>C (p.Arg1144=) c.3408G>C (p.Arg1136=) c.3405G>C (p.Arg1135=) c.3333G>C (p.Arg1111=) c.3318G>C (p.Arg1106=) c.3243G>C (p.Arg1081=) | gnomAD v4 |
1 | g.16986314C>T | CA338232421 | ATP13A2 | c.3450G>A (p.Arg1150=) c.3148G>A (p.Ala1050Thr) c.3435G>A (p.Arg1145=) n.1496G>A c.868G>A (p.Ala290Thr) c.3280G>A (p.Ala1094Thr) c.3277G>A (p.Ala1093Thr) c.3265G>A (p.Ala1089Thr) c.3253G>A (p.Ala1085Thr) c.3220G>A (p.Ala1074Thr) c.3163G>A (p.Ala1055Thr) c.3262G>A (p.Ala1088Thr) c.3238G>A (p.Ala1080Thr) c.3073G>A (p.Ala1025Thr) c.3432G>A (p.Arg1144=) c.3408G>A (p.Arg1136=) c.3405G>A (p.Arg1135=) c.3333G>A (p.Arg1111=) c.3318G>A (p.Arg1106=) c.3243G>A (p.Arg1081=) | |
1 | g.16986315C>A | CA338232422 | ATP13A2 | c.3449G>T (p.Arg1150Leu) c.3147G>T (p.Pro1049=) c.3434G>T (p.Arg1145Leu) n.1495G>T c.867G>T (p.Pro289=) c.3279G>T (p.Pro1093=) c.3276G>T (p.Pro1092=) c.3264G>T (p.Pro1088=) c.3252G>T (p.Pro1084=) c.3219G>T (p.Pro1073=) c.3162G>T (p.Pro1054=) c.3261G>T (p.Pro1087=) c.3237G>T (p.Pro1079=) c.3072G>T (p.Pro1024=) c.3431G>T (p.Arg1144Leu) c.3407G>T (p.Arg1136Leu) c.3404G>T (p.Arg1135Leu) c.3332G>T (p.Arg1111Leu) c.3317G>T (p.Arg1106Leu) c.3242G>T (p.Arg1081Leu) | dbSNP gnomAD v4 COSMIC |
1 | g.16986315C= | CA1156049533 | ATP13A2 | c.3449G= (p.Arg1150=) c.3147G= (p.Pro1049=) c.3434G= (p.Arg1145=) n.1495G= c.867G= (p.Pro289=) c.3279G= (p.Pro1093=) c.3276G= (p.Pro1092=) c.3264G= (p.Pro1088=) c.3252G= (p.Pro1084=) c.3219G= (p.Pro1073=) c.3162G= (p.Pro1054=) c.3261G= (p.Pro1087=) c.3237G= (p.Pro1079=) c.3072G= (p.Pro1024=) c.3431G= (p.Arg1144=) c.3407G= (p.Arg1136=) c.3404G= (p.Arg1135=) c.3332G= (p.Arg1111=) c.3317G= (p.Arg1106=) c.3242G= (p.Arg1081=) | |
1 | g.16986315C>G | CA338232423 | ATP13A2 | c.3449G>C (p.Arg1150Pro) c.3147G>C (p.Pro1049=) c.3434G>C (p.Arg1145Pro) n.1495G>C c.867G>C (p.Pro289=) c.3279G>C (p.Pro1093=) c.3276G>C (p.Pro1092=) c.3264G>C (p.Pro1088=) c.3252G>C (p.Pro1084=) c.3219G>C (p.Pro1073=) c.3162G>C (p.Pro1054=) c.3261G>C (p.Pro1087=) c.3237G>C (p.Pro1079=) c.3072G>C (p.Pro1024=) c.3431G>C (p.Arg1144Pro) c.3407G>C (p.Arg1136Pro) c.3404G>C (p.Arg1135Pro) c.3332G>C (p.Arg1111Pro) c.3317G>C (p.Arg1106Pro) c.3242G>C (p.Arg1081Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986315C>T | CA636479 | ATP13A2 | c.3449G>A (p.Arg1150Gln) c.3147G>A (p.Pro1049=) c.3434G>A (p.Arg1145Gln) n.1495G>A c.867G>A (p.Pro289=) c.3279G>A (p.Pro1093=) c.3276G>A (p.Pro1092=) c.3264G>A (p.Pro1088=) c.3252G>A (p.Pro1084=) c.3219G>A (p.Pro1073=) c.3162G>A (p.Pro1054=) c.3261G>A (p.Pro1087=) c.3237G>A (p.Pro1079=) c.3072G>A (p.Pro1024=) c.3431G>A (p.Arg1144Gln) c.3407G>A (p.Arg1136Gln) c.3404G>A (p.Arg1135Gln) c.3332G>A (p.Arg1111Gln) c.3317G>A (p.Arg1106Gln) c.3242G>A (p.Arg1081Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986316G>A | CA636480 | ATP13A2 | c.3448C>T (p.Arg1150Trp) c.3146C>T (p.Pro1049Leu) c.3433C>T (p.Arg1145Trp) n.1494C>T c.866C>T (p.Pro289Leu) c.3278C>T (p.Pro1093Leu) c.3275C>T (p.Pro1092Leu) c.3263C>T (p.Pro1088Leu) c.3251C>T (p.Pro1084Leu) c.3218C>T (p.Pro1073Leu) c.3161C>T (p.Pro1054Leu) c.3260C>T (p.Pro1087Leu) c.3236C>T (p.Pro1079Leu) c.3071C>T (p.Pro1024Leu) c.3430C>T (p.Arg1144Trp) c.3406C>T (p.Arg1136Trp) c.3403C>T (p.Arg1135Trp) c.3331C>T (p.Arg1111Trp) c.3316C>T (p.Arg1106Trp) c.3241C>T (p.Arg1081Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.16986316G>C | CA338232424 | ATP13A2 | c.3448C>G (p.Arg1150Gly) c.3146C>G (p.Pro1049Arg) c.3433C>G (p.Arg1145Gly) n.1494C>G c.866C>G (p.Pro289Arg) c.3278C>G (p.Pro1093Arg) c.3275C>G (p.Pro1092Arg) c.3263C>G (p.Pro1088Arg) c.3251C>G (p.Pro1084Arg) c.3218C>G (p.Pro1073Arg) c.3161C>G (p.Pro1054Arg) c.3260C>G (p.Pro1087Arg) c.3236C>G (p.Pro1079Arg) c.3071C>G (p.Pro1024Arg) c.3430C>G (p.Arg1144Gly) c.3406C>G (p.Arg1136Gly) c.3403C>G (p.Arg1135Gly) c.3331C>G (p.Arg1111Gly) c.3316C>G (p.Arg1106Gly) c.3241C>G (p.Arg1081Gly) | |
1 | g.16986316G= | CA1156049535 | ATP13A2 | c.3448C= (p.Arg1150=) c.3146C= (p.Pro1049=) c.3433C= (p.Arg1145=) n.1494C= c.866C= (p.Pro289=) c.3278C= (p.Pro1093=) c.3275C= (p.Pro1092=) c.3263C= (p.Pro1088=) c.3251C= (p.Pro1084=) c.3218C= (p.Pro1073=) c.3161C= (p.Pro1054=) c.3260C= (p.Pro1087=) c.3236C= (p.Pro1079=) c.3071C= (p.Pro1024=) c.3430C= (p.Arg1144=) c.3406C= (p.Arg1136=) c.3403C= (p.Arg1135=) c.3331C= (p.Arg1111=) c.3316C= (p.Arg1106=) c.3241C= (p.Arg1081=) | |
1 | g.16986316G>T | CA338232425 | ATP13A2 | c.3448C>A (p.Arg1150=) c.3146C>A (p.Pro1049Gln) c.3433C>A (p.Arg1145=) n.1494C>A c.866C>A (p.Pro289Gln) c.3278C>A (p.Pro1093Gln) c.3275C>A (p.Pro1092Gln) c.3263C>A (p.Pro1088Gln) c.3251C>A (p.Pro1084Gln) c.3218C>A (p.Pro1073Gln) c.3161C>A (p.Pro1054Gln) c.3260C>A (p.Pro1087Gln) c.3236C>A (p.Pro1079Gln) c.3071C>A (p.Pro1024Gln) c.3430C>A (p.Arg1144=) c.3406C>A (p.Arg1136=) c.3403C>A (p.Arg1135=) c.3331C>A (p.Arg1111=) c.3316C>A (p.Arg1106=) c.3241C>A (p.Arg1081=) | gnomAD v4 |
1 | g.16986317G>A | CA338232426 | ATP13A2 | c.3447C>T (p.Leu1149=) c.3145C>T (p.Pro1049Ser) c.3432C>T (p.Leu1144=) n.1493C>T c.865C>T (p.Pro289Ser) c.3277C>T (p.Pro1093Ser) c.3274C>T (p.Pro1092Ser) c.3262C>T (p.Pro1088Ser) c.3250C>T (p.Pro1084Ser) c.3217C>T (p.Pro1073Ser) c.3160C>T (p.Pro1054Ser) c.3259C>T (p.Pro1087Ser) c.3235C>T (p.Pro1079Ser) c.3070C>T (p.Pro1024Ser) c.3429C>T (p.Leu1143=) c.3405C>T (p.Leu1135=) c.3402C>T (p.Leu1134=) c.3330C>T (p.Leu1110=) c.3315C>T (p.Leu1105=) c.3240C>T (p.Leu1080=) | |
1 | g.16986317G>C | CA18624779 | ATP13A2 | c.3447C>G (p.Leu1149=) c.3145C>G (p.Pro1049Ala) c.3432C>G (p.Leu1144=) n.1493C>G c.865C>G (p.Pro289Ala) c.3277C>G (p.Pro1093Ala) c.3274C>G (p.Pro1092Ala) c.3262C>G (p.Pro1088Ala) c.3250C>G (p.Pro1084Ala) c.3217C>G (p.Pro1073Ala) c.3160C>G (p.Pro1054Ala) c.3259C>G (p.Pro1087Ala) c.3235C>G (p.Pro1079Ala) c.3070C>G (p.Pro1024Ala) c.3429C>G (p.Leu1143=) c.3405C>G (p.Leu1135=) c.3402C>G (p.Leu1134=) c.3330C>G (p.Leu1110=) c.3315C>G (p.Leu1105=) c.3240C>G (p.Leu1080=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986317G= | CA1156049541 | ATP13A2 | c.3447C= (p.Leu1149=) c.3145C= (p.Pro1049=) c.3432C= (p.Leu1144=) n.1493C= c.865C= (p.Pro289=) c.3277C= (p.Pro1093=) c.3274C= (p.Pro1092=) c.3262C= (p.Pro1088=) c.3250C= (p.Pro1084=) c.3217C= (p.Pro1073=) c.3160C= (p.Pro1054=) c.3259C= (p.Pro1087=) c.3235C= (p.Pro1079=) c.3070C= (p.Pro1024=) c.3429C= (p.Leu1143=) c.3405C= (p.Leu1135=) c.3402C= (p.Leu1134=) c.3330C= (p.Leu1110=) c.3315C= (p.Leu1105=) c.3240C= (p.Leu1080=) | |
1 | g.16986317G>T | CA338232427 | ATP13A2 | c.3447C>A (p.Leu1149=) c.3145C>A (p.Pro1049Thr) c.3432C>A (p.Leu1144=) n.1493C>A c.865C>A (p.Pro289Thr) c.3277C>A (p.Pro1093Thr) c.3274C>A (p.Pro1092Thr) c.3262C>A (p.Pro1088Thr) c.3250C>A (p.Pro1084Thr) c.3217C>A (p.Pro1073Thr) c.3160C>A (p.Pro1054Thr) c.3259C>A (p.Pro1087Thr) c.3235C>A (p.Pro1079Thr) c.3070C>A (p.Pro1024Thr) c.3429C>A (p.Leu1143=) c.3405C>A (p.Leu1135=) c.3402C>A (p.Leu1134=) c.3330C>A (p.Leu1110=) c.3315C>A (p.Leu1105=) c.3240C>A (p.Leu1080=) | |
1 | g.16986318A>C | CA338232430 | ATP13A2 | c.3446T>G (p.Leu1149Arg) c.3144T>G (p.Pro1048=) c.3431T>G (p.Leu1144Arg) n.1492T>G c.864T>G (p.Pro288=) c.3276T>G (p.Pro1092=) c.3273T>G (p.Pro1091=) c.3261T>G (p.Pro1087=) c.3249T>G (p.Pro1083=) c.3216T>G (p.Pro1072=) c.3159T>G (p.Pro1053=) c.3258T>G (p.Pro1086=) c.3234T>G (p.Pro1078=) c.3069T>G (p.Pro1023=) c.3428T>G (p.Leu1143Arg) c.3404T>G (p.Leu1135Arg) c.3401T>G (p.Leu1134Arg) c.3329T>G (p.Leu1110Arg) c.3314T>G (p.Leu1105Arg) c.3239T>G (p.Leu1080Arg) | |
1 | g.16986318A>G | CA338232429 | ATP13A2 | c.3446T>C (p.Leu1149Pro) c.3144T>C (p.Pro1048=) c.3431T>C (p.Leu1144Pro) n.1492T>C c.864T>C (p.Pro288=) c.3276T>C (p.Pro1092=) c.3273T>C (p.Pro1091=) c.3261T>C (p.Pro1087=) c.3249T>C (p.Pro1083=) c.3216T>C (p.Pro1072=) c.3159T>C (p.Pro1053=) c.3258T>C (p.Pro1086=) c.3234T>C (p.Pro1078=) c.3069T>C (p.Pro1023=) c.3428T>C (p.Leu1143Pro) c.3404T>C (p.Leu1135Pro) c.3401T>C (p.Leu1134Pro) c.3329T>C (p.Leu1110Pro) c.3314T>C (p.Leu1105Pro) c.3239T>C (p.Leu1080Pro) | |
1 | g.16986318A>T | CA338232428 | ATP13A2 | c.3446T>A (p.Leu1149His) c.3144T>A (p.Pro1048=) c.3431T>A (p.Leu1144His) n.1492T>A c.864T>A (p.Pro288=) c.3276T>A (p.Pro1092=) c.3273T>A (p.Pro1091=) c.3261T>A (p.Pro1087=) c.3249T>A (p.Pro1083=) c.3216T>A (p.Pro1072=) c.3159T>A (p.Pro1053=) c.3258T>A (p.Pro1086=) c.3234T>A (p.Pro1078=) c.3069T>A (p.Pro1023=) c.3428T>A (p.Leu1143His) c.3404T>A (p.Leu1135His) c.3401T>A (p.Leu1134His) c.3329T>A (p.Leu1110His) c.3314T>A (p.Leu1105His) c.3239T>A (p.Leu1080His) |