| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16986120C>T | CA2643667877 | ATP13A2 | c.*101G>A (n.*101G>A) c.3342G>A (p.Leu1114=) n.1690G>A c.1062G>A (p.Leu354=) c.3474G>A (p.Leu1158=) c.3471G>A (p.Leu1157=) c.3459G>A (p.Leu1153=) c.3447G>A (p.Leu1149=) c.3414G>A (p.Leu1138=) c.3357G>A (p.Leu1119=) c.3456G>A (p.Leu1152=) c.3432G>A (p.Leu1144=) c.3267G>A (p.Leu1089=) | gnomAD v4 |
| 1 | g.16986121A= | CA1156048891 | ATP13A2 | c.*100T= (n.*100T=) c.3341T= (p.Leu1114=) n.1689T= c.1061T= (p.Leu354=) c.3473T= (p.Leu1158=) c.3470T= (p.Leu1157=) c.3458T= (p.Leu1153=) c.3446T= (p.Leu1149=) c.3413T= (p.Leu1138=) c.3356T= (p.Leu1119=) c.3455T= (p.Leu1152=) c.3431T= (p.Leu1144=) c.3266T= (p.Leu1089=) | |
| 1 | g.16986121A>C | CA338231229 | ATP13A2 | c.*100T>G (n.*100T>G) c.3341T>G (p.Leu1114Arg) n.1689T>G c.1061T>G (p.Leu354Arg) c.3473T>G (p.Leu1158Arg) c.3470T>G (p.Leu1157Arg) c.3458T>G (p.Leu1153Arg) c.3446T>G (p.Leu1149Arg) c.3413T>G (p.Leu1138Arg) c.3356T>G (p.Leu1119Arg) c.3455T>G (p.Leu1152Arg) c.3431T>G (p.Leu1144Arg) c.3266T>G (p.Leu1089Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986121A>G | CA338231231 | ATP13A2 | c.*100T>C (n.*100T>C) c.3341T>C (p.Leu1114Pro) n.1689T>C c.1061T>C (p.Leu354Pro) c.3473T>C (p.Leu1158Pro) c.3470T>C (p.Leu1157Pro) c.3458T>C (p.Leu1153Pro) c.3446T>C (p.Leu1149Pro) c.3413T>C (p.Leu1138Pro) c.3356T>C (p.Leu1119Pro) c.3455T>C (p.Leu1152Pro) c.3431T>C (p.Leu1144Pro) c.3266T>C (p.Leu1089Pro) | |
| 1 | g.16986121A>T | CA338231232 | ATP13A2 | c.*100T>A (n.*100T>A) c.3341T>A (p.Leu1114Gln) n.1689T>A c.1061T>A (p.Leu354Gln) c.3473T>A (p.Leu1158Gln) c.3470T>A (p.Leu1157Gln) c.3458T>A (p.Leu1153Gln) c.3446T>A (p.Leu1149Gln) c.3413T>A (p.Leu1138Gln) c.3356T>A (p.Leu1119Gln) c.3455T>A (p.Leu1152Gln) c.3431T>A (p.Leu1144Gln) c.3266T>A (p.Leu1089Gln) | |
| 1 | g.16986121_16986122del | CA2643667881 | ATP13A2 | c.*99_*100del (n.*99_*100del) c.3340_3341del (p.Leu1114GlufsTer20) n.1688_1689del c.1060_1061del (p.Leu354GlufsTer20) c.3472_3473del (p.Leu1158GlufsTer20) c.3469_3470del (p.Leu1157GlufsTer20) c.3457_3458del (p.Leu1153GlufsTer20) c.3445_3446del (p.Leu1149GlufsTer20) c.3412_3413del (p.Leu1138GlufsTer20) c.3355_3356del (p.Leu1119GlufsTer20) c.3454_3455del (p.Leu1152GlufsTer20) c.3430_3431del (p.Leu1144GlufsTer20) c.3265_3266del (p.Leu1089GlufsTer20) | gnomAD v4 |
| 1 | g.16986122G>C | CA338231233 | ATP13A2 | c.*99C>G (n.*99C>G) c.3340C>G (p.Leu1114Val) n.1688C>G c.1060C>G (p.Leu354Val) c.3472C>G (p.Leu1158Val) c.3469C>G (p.Leu1157Val) c.3457C>G (p.Leu1153Val) c.3445C>G (p.Leu1149Val) c.3412C>G (p.Leu1138Val) c.3355C>G (p.Leu1119Val) c.3454C>G (p.Leu1152Val) c.3430C>G (p.Leu1144Val) c.3265C>G (p.Leu1089Val) | |
| 1 | g.16986122G>T | CA338231236 | ATP13A2 | c.*99C>A (n.*99C>A) c.3340C>A (p.Leu1114Met) n.1688C>A c.1060C>A (p.Leu354Met) c.3472C>A (p.Leu1158Met) c.3469C>A (p.Leu1157Met) c.3457C>A (p.Leu1153Met) c.3445C>A (p.Leu1149Met) c.3412C>A (p.Leu1138Met) c.3355C>A (p.Leu1119Met) c.3454C>A (p.Leu1152Met) c.3430C>A (p.Leu1144Met) c.3265C>A (p.Leu1089Met) | gnomAD v4 |
| 1 | g.16986123G>A | CA890928389 | ATP13A2 | c.*98C>T (n.*98C>T) c.3339C>T (p.Ser1113=) n.1687C>T c.1059C>T (p.Ser353=) c.3471C>T (p.Ser1157=) c.3468C>T (p.Ser1156=) c.3456C>T (p.Ser1152=) c.3444C>T (p.Ser1148=) c.3411C>T (p.Ser1137=) c.3354C>T (p.Ser1118=) c.3453C>T (p.Ser1151=) c.3429C>T (p.Ser1143=) c.3264C>T (p.Ser1088=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986123G= | CA1156048895 | ATP13A2 | c.*98C= (n.*98C=) c.3339C= (p.Ser1113=) n.1687C= c.1059C= (p.Ser353=) c.3471C= (p.Ser1157=) c.3468C= (p.Ser1156=) c.3456C= (p.Ser1152=) c.3444C= (p.Ser1148=) c.3411C= (p.Ser1137=) c.3354C= (p.Ser1118=) c.3453C= (p.Ser1151=) c.3429C= (p.Ser1143=) c.3264C= (p.Ser1088=) | |
| 1 | g.16986124G>A | CA636432 | ATP13A2 | c.*97C>T (n.*97C>T) c.3338C>T (p.Ser1113Phe) n.1686C>T c.1058C>T (p.Ser353Phe) c.3470C>T (p.Ser1157Phe) c.3467C>T (p.Ser1156Phe) c.3455C>T (p.Ser1152Phe) c.3443C>T (p.Ser1148Phe) c.3410C>T (p.Ser1137Phe) c.3353C>T (p.Ser1118Phe) c.3452C>T (p.Ser1151Phe) c.3428C>T (p.Ser1143Phe) c.3263C>T (p.Ser1088Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986124G>C | CA18624440 | ATP13A2 | c.*97C>G (n.*97C>G) c.3338C>G (p.Ser1113Cys) n.1686C>G c.1058C>G (p.Ser353Cys) c.3470C>G (p.Ser1157Cys) c.3467C>G (p.Ser1156Cys) c.3455C>G (p.Ser1152Cys) c.3443C>G (p.Ser1148Cys) c.3410C>G (p.Ser1137Cys) c.3353C>G (p.Ser1118Cys) c.3452C>G (p.Ser1151Cys) c.3428C>G (p.Ser1143Cys) c.3263C>G (p.Ser1088Cys) | dbSNP gnomAD v4 |
| 1 | g.16986124G= | CA1156048898 | ATP13A2 | c.*97C= (n.*97C=) c.3338C= (p.Ser1113=) n.1686C= c.1058C= (p.Ser353=) c.3470C= (p.Ser1157=) c.3467C= (p.Ser1156=) c.3455C= (p.Ser1152=) c.3443C= (p.Ser1148=) c.3410C= (p.Ser1137=) c.3353C= (p.Ser1118=) c.3452C= (p.Ser1151=) c.3428C= (p.Ser1143=) c.3263C= (p.Ser1088=) | |
| 1 | g.16986124G>T | CA338231253 | ATP13A2 | c.*97C>A (n.*97C>A) c.3338C>A (p.Ser1113Tyr) n.1686C>A c.1058C>A (p.Ser353Tyr) c.3470C>A (p.Ser1157Tyr) c.3467C>A (p.Ser1156Tyr) c.3455C>A (p.Ser1152Tyr) c.3443C>A (p.Ser1148Tyr) c.3410C>A (p.Ser1137Tyr) c.3353C>A (p.Ser1118Tyr) c.3452C>A (p.Ser1151Tyr) c.3428C>A (p.Ser1143Tyr) c.3263C>A (p.Ser1088Tyr) | gnomAD v4 |
| 1 | g.16986125A>C | CA338231257 | ATP13A2 | c.*96T>G (n.*96T>G) c.3337T>G (p.Ser1113Ala) n.1685T>G c.1057T>G (p.Ser353Ala) c.3469T>G (p.Ser1157Ala) c.3466T>G (p.Ser1156Ala) c.3454T>G (p.Ser1152Ala) c.3442T>G (p.Ser1148Ala) c.3409T>G (p.Ser1137Ala) c.3352T>G (p.Ser1118Ala) c.3451T>G (p.Ser1151Ala) c.3427T>G (p.Ser1143Ala) c.3262T>G (p.Ser1088Ala) | |
| 1 | g.16986125A>G | CA338231259 | ATP13A2 | c.*96T>C (n.*96T>C) c.3337T>C (p.Ser1113Pro) n.1685T>C c.1057T>C (p.Ser353Pro) c.3469T>C (p.Ser1157Pro) c.3466T>C (p.Ser1156Pro) c.3454T>C (p.Ser1152Pro) c.3442T>C (p.Ser1148Pro) c.3409T>C (p.Ser1137Pro) c.3352T>C (p.Ser1118Pro) c.3451T>C (p.Ser1151Pro) c.3427T>C (p.Ser1143Pro) c.3262T>C (p.Ser1088Pro) | |
| 1 | g.16986125A>T | CA338231262 | ATP13A2 | c.*96T>A (n.*96T>A) c.3337T>A (p.Ser1113Thr) n.1685T>A c.1057T>A (p.Ser353Thr) c.3469T>A (p.Ser1157Thr) c.3466T>A (p.Ser1156Thr) c.3454T>A (p.Ser1152Thr) c.3442T>A (p.Ser1148Thr) c.3409T>A (p.Ser1137Thr) c.3352T>A (p.Ser1118Thr) c.3451T>A (p.Ser1151Thr) c.3427T>A (p.Ser1143Thr) c.3262T>A (p.Ser1088Thr) | |
| 1 | g.16986126T>C | CA636433 | ATP13A2 | c.*95A>G (n.*95A>G) c.3336A>G (p.Thr1112=) n.1684A>G c.1056A>G (p.Thr352=) c.3468A>G (p.Thr1156=) c.3465A>G (p.Thr1155=) c.3453A>G (p.Thr1151=) c.3441A>G (p.Thr1147=) c.3408A>G (p.Thr1136=) c.3351A>G (p.Thr1117=) c.3450A>G (p.Thr1150=) c.3426A>G (p.Thr1142=) c.3261A>G (p.Thr1087=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986126T>G | CA2742638025 | ATP13A2 | c.*95A>C (n.*95A>C) c.3336A>C (p.Thr1112=) n.1684A>C c.1056A>C (p.Thr352=) c.3468A>C (p.Thr1156=) c.3465A>C (p.Thr1155=) c.3453A>C (p.Thr1151=) c.3441A>C (p.Thr1147=) c.3408A>C (p.Thr1136=) c.3351A>C (p.Thr1117=) c.3450A>C (p.Thr1150=) c.3426A>C (p.Thr1142=) c.3261A>C (p.Thr1087=) | |
| 1 | g.16986126T= | CA1148877532 | ATP13A2 | c.*95A= (n.*95A=) c.3336A= (p.Thr1112=) n.1684A= c.1056A= (p.Thr352=) c.3468A= (p.Thr1156=) c.3465A= (p.Thr1155=) c.3453A= (p.Thr1151=) c.3441A= (p.Thr1147=) c.3408A= (p.Thr1136=) c.3351A= (p.Thr1117=) c.3450A= (p.Thr1150=) c.3426A= (p.Thr1142=) c.3261A= (p.Thr1087=) | |
| 1 | g.16986127G>A | CA338231276 | ATP13A2 | c.*94C>T (n.*94C>T) c.3335C>T (p.Thr1112Ile) n.1683C>T c.1055C>T (p.Thr352Ile) c.3467C>T (p.Thr1156Ile) c.3464C>T (p.Thr1155Ile) c.3452C>T (p.Thr1151Ile) c.3440C>T (p.Thr1147Ile) c.3407C>T (p.Thr1136Ile) c.3350C>T (p.Thr1117Ile) c.3449C>T (p.Thr1150Ile) c.3425C>T (p.Thr1142Ile) c.3260C>T (p.Thr1087Ile) | |
| 1 | g.16986127G>C | CA338231274 | ATP13A2 | c.*94C>G (n.*94C>G) c.3335C>G (p.Thr1112Arg) n.1683C>G c.1055C>G (p.Thr352Arg) c.3467C>G (p.Thr1156Arg) c.3464C>G (p.Thr1155Arg) c.3452C>G (p.Thr1151Arg) c.3440C>G (p.Thr1147Arg) c.3407C>G (p.Thr1136Arg) c.3350C>G (p.Thr1117Arg) c.3449C>G (p.Thr1150Arg) c.3425C>G (p.Thr1142Arg) c.3260C>G (p.Thr1087Arg) | |
| 1 | g.16986127G>T | CA338231269 | ATP13A2 | c.*94C>A (n.*94C>A) c.3335C>A (p.Thr1112Lys) n.1683C>A c.1055C>A (p.Thr352Lys) c.3467C>A (p.Thr1156Lys) c.3464C>A (p.Thr1155Lys) c.3452C>A (p.Thr1151Lys) c.3440C>A (p.Thr1147Lys) c.3407C>A (p.Thr1136Lys) c.3350C>A (p.Thr1117Lys) c.3449C>A (p.Thr1150Lys) c.3425C>A (p.Thr1142Lys) c.3260C>A (p.Thr1087Lys) | |
| 1 | g.16986128T>A | CA338231278 | ATP13A2 | c.*93A>T (n.*93A>T) c.3334A>T (p.Thr1112Ser) n.1682A>T c.1054A>T (p.Thr352Ser) c.3466A>T (p.Thr1156Ser) c.3463A>T (p.Thr1155Ser) c.3451A>T (p.Thr1151Ser) c.3439A>T (p.Thr1147Ser) c.3406A>T (p.Thr1136Ser) c.3349A>T (p.Thr1117Ser) c.3448A>T (p.Thr1150Ser) c.3424A>T (p.Thr1142Ser) c.3259A>T (p.Thr1087Ser) | |
| 1 | g.16986128T>C | CA338231280 | ATP13A2 | c.*93A>G (n.*93A>G) c.3334A>G (p.Thr1112Ala) n.1682A>G c.1054A>G (p.Thr352Ala) c.3466A>G (p.Thr1156Ala) c.3463A>G (p.Thr1155Ala) c.3451A>G (p.Thr1151Ala) c.3439A>G (p.Thr1147Ala) c.3406A>G (p.Thr1136Ala) c.3349A>G (p.Thr1117Ala) c.3448A>G (p.Thr1150Ala) c.3424A>G (p.Thr1142Ala) c.3259A>G (p.Thr1087Ala) | |
| 1 | g.16986128T>G | CA338231282 | ATP13A2 | c.*93A>C (n.*93A>C) c.3334A>C (p.Thr1112Pro) n.1682A>C c.1054A>C (p.Thr352Pro) c.3466A>C (p.Thr1156Pro) c.3463A>C (p.Thr1155Pro) c.3451A>C (p.Thr1151Pro) c.3439A>C (p.Thr1147Pro) c.3406A>C (p.Thr1136Pro) c.3349A>C (p.Thr1117Pro) c.3448A>C (p.Thr1150Pro) c.3424A>C (p.Thr1142Pro) c.3259A>C (p.Thr1087Pro) | |
| 1 | g.16986129G>A | CA521449593 | ATP13A2 | c.*92C>T (n.*92C>T) c.3333C>T (p.Pro1111=) n.1681C>T c.1053C>T (p.Pro351=) c.3465C>T (p.Pro1155=) c.3462C>T (p.Pro1154=) c.3450C>T (p.Pro1150=) c.3438C>T (p.Pro1146=) c.3405C>T (p.Pro1135=) c.3348C>T (p.Pro1116=) c.3447C>T (p.Pro1149=) c.3423C>T (p.Pro1141=) c.3258C>T (p.Pro1086=) | dbSNP gnomAD v2 |
| 1 | g.16986129G= | CA1156048902 | ATP13A2 | c.*92C= (n.*92C=) c.3333C= (p.Pro1111=) n.1681C= c.1053C= (p.Pro351=) c.3465C= (p.Pro1155=) c.3462C= (p.Pro1154=) c.3450C= (p.Pro1150=) c.3438C= (p.Pro1146=) c.3405C= (p.Pro1135=) c.3348C= (p.Pro1116=) c.3447C= (p.Pro1149=) c.3423C= (p.Pro1141=) c.3258C= (p.Pro1086=) | |
| 1 | g.16986129G>T | CA2742638028 | ATP13A2 | c.*92C>A (n.*92C>A) c.3333C>A (p.Pro1111=) n.1681C>A c.1053C>A (p.Pro351=) c.3465C>A (p.Pro1155=) c.3462C>A (p.Pro1154=) c.3450C>A (p.Pro1150=) c.3438C>A (p.Pro1146=) c.3405C>A (p.Pro1135=) c.3348C>A (p.Pro1116=) c.3447C>A (p.Pro1149=) c.3423C>A (p.Pro1141=) c.3258C>A (p.Pro1086=) | |
| 1 | g.16986130G>A | CA338231284 | ATP13A2 | c.*91C>T (n.*91C>T) c.3332C>T (p.Pro1111Leu) n.1680C>T c.1052C>T (p.Pro351Leu) c.3464C>T (p.Pro1155Leu) c.3461C>T (p.Pro1154Leu) c.3449C>T (p.Pro1150Leu) c.3437C>T (p.Pro1146Leu) c.3404C>T (p.Pro1135Leu) c.3347C>T (p.Pro1116Leu) c.3446C>T (p.Pro1149Leu) c.3422C>T (p.Pro1141Leu) c.3257C>T (p.Pro1086Leu) | gnomAD v4 |
| 1 | g.16986130G>C | CA338231286 | ATP13A2 | c.*91C>G (n.*91C>G) c.3332C>G (p.Pro1111Arg) n.1680C>G c.1052C>G (p.Pro351Arg) c.3464C>G (p.Pro1155Arg) c.3461C>G (p.Pro1154Arg) c.3449C>G (p.Pro1150Arg) c.3437C>G (p.Pro1146Arg) c.3404C>G (p.Pro1135Arg) c.3347C>G (p.Pro1116Arg) c.3446C>G (p.Pro1149Arg) c.3422C>G (p.Pro1141Arg) c.3257C>G (p.Pro1086Arg) | gnomAD v4 |
| 1 | g.16986130G>T | CA338231292 | ATP13A2 | c.*91C>A (n.*91C>A) c.3332C>A (p.Pro1111His) n.1680C>A c.1052C>A (p.Pro351His) c.3464C>A (p.Pro1155His) c.3461C>A (p.Pro1154His) c.3449C>A (p.Pro1150His) c.3437C>A (p.Pro1146His) c.3404C>A (p.Pro1135His) c.3347C>A (p.Pro1116His) c.3446C>A (p.Pro1149His) c.3422C>A (p.Pro1141His) c.3257C>A (p.Pro1086His) | |
| 1 | g.16986131G>A | CA338231294 | ATP13A2 | c.*90C>T (n.*90C>T) c.3331C>T (p.Pro1111Ser) n.1679C>T c.1051C>T (p.Pro351Ser) c.3463C>T (p.Pro1155Ser) c.3460C>T (p.Pro1154Ser) c.3448C>T (p.Pro1150Ser) c.3436C>T (p.Pro1146Ser) c.3403C>T (p.Pro1135Ser) c.3346C>T (p.Pro1116Ser) c.3445C>T (p.Pro1149Ser) c.3421C>T (p.Pro1141Ser) c.3256C>T (p.Pro1086Ser) | |
| 1 | g.16986131G>C | CA338231296 | ATP13A2 | c.*90C>G (n.*90C>G) c.3331C>G (p.Pro1111Ala) n.1679C>G c.1051C>G (p.Pro351Ala) c.3463C>G (p.Pro1155Ala) c.3460C>G (p.Pro1154Ala) c.3448C>G (p.Pro1150Ala) c.3436C>G (p.Pro1146Ala) c.3403C>G (p.Pro1135Ala) c.3346C>G (p.Pro1116Ala) c.3445C>G (p.Pro1149Ala) c.3421C>G (p.Pro1141Ala) c.3256C>G (p.Pro1086Ala) | |
| 1 | g.16986131G>T | CA338231300 | ATP13A2 | c.*90C>A (n.*90C>A) c.3331C>A (p.Pro1111Thr) n.1679C>A c.1051C>A (p.Pro351Thr) c.3463C>A (p.Pro1155Thr) c.3460C>A (p.Pro1154Thr) c.3448C>A (p.Pro1150Thr) c.3436C>A (p.Pro1146Thr) c.3403C>A (p.Pro1135Thr) c.3346C>A (p.Pro1116Thr) c.3445C>A (p.Pro1149Thr) c.3421C>A (p.Pro1141Thr) c.3256C>A (p.Pro1086Thr) | |
| 1 | g.16986133G>A | CA18624441 | ATP13A2 | c.*88C>T (n.*88C>T) c.3329C>T (p.Pro1110Leu) n.1677C>T c.1049C>T (p.Pro350Leu) c.3461C>T (p.Pro1154Leu) c.3458C>T (p.Pro1153Leu) c.3446C>T (p.Pro1149Leu) c.3434C>T (p.Pro1145Leu) c.3401C>T (p.Pro1134Leu) c.3344C>T (p.Pro1115Leu) c.3443C>T (p.Pro1148Leu) c.3419C>T (p.Pro1140Leu) c.3254C>T (p.Pro1085Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986133G>C | CA338231304 | ATP13A2 | c.*88C>G (n.*88C>G) c.3329C>G (p.Pro1110Arg) n.1677C>G c.1049C>G (p.Pro350Arg) c.3461C>G (p.Pro1154Arg) c.3458C>G (p.Pro1153Arg) c.3446C>G (p.Pro1149Arg) c.3434C>G (p.Pro1145Arg) c.3401C>G (p.Pro1134Arg) c.3344C>G (p.Pro1115Arg) c.3443C>G (p.Pro1148Arg) c.3419C>G (p.Pro1140Arg) c.3254C>G (p.Pro1085Arg) | |
| 1 | g.16986133G= | CA1156048903 | ATP13A2 | c.*88C= (n.*88C=) c.3329C= (p.Pro1110=) n.1677C= c.1049C= (p.Pro350=) c.3461C= (p.Pro1154=) c.3458C= (p.Pro1153=) c.3446C= (p.Pro1149=) c.3434C= (p.Pro1145=) c.3401C= (p.Pro1134=) c.3344C= (p.Pro1115=) c.3443C= (p.Pro1148=) c.3419C= (p.Pro1140=) c.3254C= (p.Pro1085=) | |
| 1 | g.16986133G>T | CA338231305 | ATP13A2 | c.*88C>A (n.*88C>A) c.3329C>A (p.Pro1110His) n.1677C>A c.1049C>A (p.Pro350His) c.3461C>A (p.Pro1154His) c.3458C>A (p.Pro1153His) c.3446C>A (p.Pro1149His) c.3434C>A (p.Pro1145His) c.3401C>A (p.Pro1134His) c.3344C>A (p.Pro1115His) c.3443C>A (p.Pro1148His) c.3419C>A (p.Pro1140His) c.3254C>A (p.Pro1085His) | gnomAD v4 |
| 1 | g.16986140_16986148del | CA2643667908 | ATP13A2 | c.*80_*88del (n.*80_*88del) c.3321_3329del (p.Pro1108_Pro1110del) n.1669_1677del c.1041_1049del (p.Pro348_Pro350del) c.3453_3461del (p.Pro1152_Pro1154del) c.3450_3458del (p.Pro1151_Pro1153del) c.3438_3446del (p.Pro1147_Pro1149del) c.3426_3434del (p.Pro1143_Pro1145del) c.3393_3401del (p.Pro1132_Pro1134del) c.3336_3344del (p.Pro1113_Pro1115del) c.3435_3443del (p.Pro1146_Pro1148del) c.3411_3419del (p.Pro1138_Pro1140del) c.3246_3254del (p.Pro1083_Pro1085del) | gnomAD v4 |
| 1 | g.16986134G>A | CA338231310 | ATP13A2 | c.*87C>T (n.*87C>T) c.3328C>T (p.Pro1110Ser) n.1676C>T c.1048C>T (p.Pro350Ser) c.3460C>T (p.Pro1154Ser) c.3457C>T (p.Pro1153Ser) c.3445C>T (p.Pro1149Ser) c.3433C>T (p.Pro1145Ser) c.3400C>T (p.Pro1134Ser) c.3343C>T (p.Pro1115Ser) c.3442C>T (p.Pro1148Ser) c.3418C>T (p.Pro1140Ser) c.3253C>T (p.Pro1085Ser) | gnomAD v4 |
| 1 | g.16986134G>C | CA338231307 | ATP13A2 | c.*87C>G (n.*87C>G) c.3328C>G (p.Pro1110Ala) n.1676C>G c.1048C>G (p.Pro350Ala) c.3460C>G (p.Pro1154Ala) c.3457C>G (p.Pro1153Ala) c.3445C>G (p.Pro1149Ala) c.3433C>G (p.Pro1145Ala) c.3400C>G (p.Pro1134Ala) c.3343C>G (p.Pro1115Ala) c.3442C>G (p.Pro1148Ala) c.3418C>G (p.Pro1140Ala) c.3253C>G (p.Pro1085Ala) | |
| 1 | g.16986134G= | CA1156048905 | ATP13A2 | c.*87C= (n.*87C=) c.3328C= (p.Pro1110=) n.1676C= c.1048C= (p.Pro350=) c.3460C= (p.Pro1154=) c.3457C= (p.Pro1153=) c.3445C= (p.Pro1149=) c.3433C= (p.Pro1145=) c.3400C= (p.Pro1134=) c.3343C= (p.Pro1115=) c.3442C= (p.Pro1148=) c.3418C= (p.Pro1140=) c.3253C= (p.Pro1085=) | |
| 1 | g.16986134G>T | CA338231306 | ATP13A2 | c.*87C>A (n.*87C>A) c.3328C>A (p.Pro1110Thr) n.1676C>A c.1048C>A (p.Pro350Thr) c.3460C>A (p.Pro1154Thr) c.3457C>A (p.Pro1153Thr) c.3445C>A (p.Pro1149Thr) c.3433C>A (p.Pro1145Thr) c.3400C>A (p.Pro1134Thr) c.3343C>A (p.Pro1115Thr) c.3442C>A (p.Pro1148Thr) c.3418C>A (p.Pro1140Thr) c.3253C>A (p.Pro1085Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986136G>A | CA338231314 | ATP13A2 | c.*85C>T (n.*85C>T) c.3326C>T (p.Pro1109Leu) n.1674C>T c.1046C>T (p.Pro349Leu) c.3458C>T (p.Pro1153Leu) c.3455C>T (p.Pro1152Leu) c.3443C>T (p.Pro1148Leu) c.3431C>T (p.Pro1144Leu) c.3398C>T (p.Pro1133Leu) c.3341C>T (p.Pro1114Leu) c.3440C>T (p.Pro1147Leu) c.3416C>T (p.Pro1139Leu) c.3251C>T (p.Pro1084Leu) | |
| 1 | g.16986136G>C | CA338231316 | ATP13A2 | c.*85C>G (n.*85C>G) c.3326C>G (p.Pro1109Arg) n.1674C>G c.1046C>G (p.Pro349Arg) c.3458C>G (p.Pro1153Arg) c.3455C>G (p.Pro1152Arg) c.3443C>G (p.Pro1148Arg) c.3431C>G (p.Pro1144Arg) c.3398C>G (p.Pro1133Arg) c.3341C>G (p.Pro1114Arg) c.3440C>G (p.Pro1147Arg) c.3416C>G (p.Pro1139Arg) c.3251C>G (p.Pro1084Arg) | |
| 1 | g.16986136G>T | CA338231322 | ATP13A2 | c.*85C>A (n.*85C>A) c.3326C>A (p.Pro1109Gln) n.1674C>A c.1046C>A (p.Pro349Gln) c.3458C>A (p.Pro1153Gln) c.3455C>A (p.Pro1152Gln) c.3443C>A (p.Pro1148Gln) c.3431C>A (p.Pro1144Gln) c.3398C>A (p.Pro1133Gln) c.3341C>A (p.Pro1114Gln) c.3440C>A (p.Pro1147Gln) c.3416C>A (p.Pro1139Gln) c.3251C>A (p.Pro1084Gln) | |
| 1 | g.16986137G>A | CA338231324 | ATP13A2 | c.*84C>T (n.*84C>T) c.3325C>T (p.Pro1109Ser) n.1673C>T c.1045C>T (p.Pro349Ser) c.3457C>T (p.Pro1153Ser) c.3454C>T (p.Pro1152Ser) c.3442C>T (p.Pro1148Ser) c.3430C>T (p.Pro1144Ser) c.3397C>T (p.Pro1133Ser) c.3340C>T (p.Pro1114Ser) c.3439C>T (p.Pro1147Ser) c.3415C>T (p.Pro1139Ser) c.3250C>T (p.Pro1084Ser) | |
| 1 | g.16986137G>C | CA338231325 | ATP13A2 | c.*84C>G (n.*84C>G) c.3325C>G (p.Pro1109Ala) n.1673C>G c.1045C>G (p.Pro349Ala) c.3457C>G (p.Pro1153Ala) c.3454C>G (p.Pro1152Ala) c.3442C>G (p.Pro1148Ala) c.3430C>G (p.Pro1144Ala) c.3397C>G (p.Pro1133Ala) c.3340C>G (p.Pro1114Ala) c.3439C>G (p.Pro1147Ala) c.3415C>G (p.Pro1139Ala) c.3250C>G (p.Pro1084Ala) | |
| 1 | g.16986137G= | CA1156048910 | ATP13A2 | c.*84C= (n.*84C=) c.3325C= (p.Pro1109=) n.1673C= c.1045C= (p.Pro349=) c.3457C= (p.Pro1153=) c.3454C= (p.Pro1152=) c.3442C= (p.Pro1148=) c.3430C= (p.Pro1144=) c.3397C= (p.Pro1133=) c.3340C= (p.Pro1114=) c.3439C= (p.Pro1147=) c.3415C= (p.Pro1139=) c.3250C= (p.Pro1084=) | |
| 1 | g.16986137G>T | CA338231326 | ATP13A2 | c.*84C>A (n.*84C>A) c.3325C>A (p.Pro1109Thr) n.1673C>A c.1045C>A (p.Pro349Thr) c.3457C>A (p.Pro1153Thr) c.3454C>A (p.Pro1152Thr) c.3442C>A (p.Pro1148Thr) c.3430C>A (p.Pro1144Thr) c.3397C>A (p.Pro1133Thr) c.3340C>A (p.Pro1114Thr) c.3439C>A (p.Pro1147Thr) c.3415C>A (p.Pro1139Thr) c.3250C>A (p.Pro1084Thr) | gnomAD v4 |
| 1 | g.16986138T>C | CA18624446 | ATP13A2 | c.*83A>G (n.*83A>G) c.3324A>G (p.Pro1108=) n.1672A>G c.1044A>G (p.Pro348=) c.3456A>G (p.Pro1152=) c.3453A>G (p.Pro1151=) c.3441A>G (p.Pro1147=) c.3429A>G (p.Pro1143=) c.3396A>G (p.Pro1132=) c.3339A>G (p.Pro1113=) c.3438A>G (p.Pro1146=) c.3414A>G (p.Pro1138=) c.3249A>G (p.Pro1083=) | dbSNP gnomAD v4 |
| 1 | g.16986138T= | CA1156048911 | ATP13A2 | c.*83A= (n.*83A=) c.3324A= (p.Pro1108=) n.1672A= c.1044A= (p.Pro348=) c.3456A= (p.Pro1152=) c.3453A= (p.Pro1151=) c.3441A= (p.Pro1147=) c.3429A= (p.Pro1143=) c.3396A= (p.Pro1132=) c.3339A= (p.Pro1113=) c.3438A= (p.Pro1146=) c.3414A= (p.Pro1138=) c.3249A= (p.Pro1083=) | |
| 1 | g.16986138dup | CA999084957 | ATP13A2 | c.*83dup (n.*83dup) c.3324dup (p.Pro1109ThrfsTer26) n.1672dup c.1044dup (p.Pro349ThrfsTer26) c.3456dup (p.Pro1153ThrfsTer26) c.3453dup (p.Pro1152ThrfsTer26) c.3441dup (p.Pro1148ThrfsTer26) c.3429dup (p.Pro1144ThrfsTer26) c.3396dup (p.Pro1133ThrfsTer26) c.3339dup (p.Pro1114ThrfsTer26) c.3438dup (p.Pro1147ThrfsTer26) c.3414dup (p.Pro1139ThrfsTer26) c.3249dup (p.Pro1084ThrfsTer26) | dbSNP |
| 1 | g.16986139G>A | CA338231327 | ATP13A2 | c.*82C>T (n.*82C>T) c.3323C>T (p.Pro1108Leu) n.1671C>T c.1043C>T (p.Pro348Leu) c.3455C>T (p.Pro1152Leu) c.3452C>T (p.Pro1151Leu) c.3440C>T (p.Pro1147Leu) c.3428C>T (p.Pro1143Leu) c.3395C>T (p.Pro1132Leu) c.3338C>T (p.Pro1113Leu) c.3437C>T (p.Pro1146Leu) c.3413C>T (p.Pro1138Leu) c.3248C>T (p.Pro1083Leu) | |
| 1 | g.16986139G>C | CA338231328 | ATP13A2 | c.*82C>G (n.*82C>G) c.3323C>G (p.Pro1108Arg) n.1671C>G c.1043C>G (p.Pro348Arg) c.3455C>G (p.Pro1152Arg) c.3452C>G (p.Pro1151Arg) c.3440C>G (p.Pro1147Arg) c.3428C>G (p.Pro1143Arg) c.3395C>G (p.Pro1132Arg) c.3338C>G (p.Pro1113Arg) c.3437C>G (p.Pro1146Arg) c.3413C>G (p.Pro1138Arg) c.3248C>G (p.Pro1083Arg) | |
| 1 | g.16986139G>T | CA338231329 | ATP13A2 | c.*82C>A (n.*82C>A) c.3323C>A (p.Pro1108Gln) n.1671C>A c.1043C>A (p.Pro348Gln) c.3455C>A (p.Pro1152Gln) c.3452C>A (p.Pro1151Gln) c.3440C>A (p.Pro1147Gln) c.3428C>A (p.Pro1143Gln) c.3395C>A (p.Pro1132Gln) c.3338C>A (p.Pro1113Gln) c.3437C>A (p.Pro1146Gln) c.3413C>A (p.Pro1138Gln) c.3248C>A (p.Pro1083Gln) | |
| 1 | g.16986140dup | CA2574234671 | ATP13A2 | c.*82dup (n.*82dup) c.3323dup (p.Pro1109ThrfsTer26) n.1671dup c.1043dup (p.Pro349ThrfsTer26) c.3455dup (p.Pro1153ThrfsTer26) c.3452dup (p.Pro1152ThrfsTer26) c.3440dup (p.Pro1148ThrfsTer26) c.3428dup (p.Pro1144ThrfsTer26) c.3395dup (p.Pro1133ThrfsTer26) c.3338dup (p.Pro1114ThrfsTer26) c.3437dup (p.Pro1147ThrfsTer26) c.3413dup (p.Pro1139ThrfsTer26) c.3248dup (p.Pro1084ThrfsTer26) | |
| 1 | g.16986140G>A | CA338231331 | ATP13A2 | c.*81C>T (n.*81C>T) c.3322C>T (p.Pro1108Ser) n.1670C>T c.1042C>T (p.Pro348Ser) c.3454C>T (p.Pro1152Ser) c.3451C>T (p.Pro1151Ser) c.3439C>T (p.Pro1147Ser) c.3427C>T (p.Pro1143Ser) c.3394C>T (p.Pro1132Ser) c.3337C>T (p.Pro1113Ser) c.3436C>T (p.Pro1146Ser) c.3412C>T (p.Pro1138Ser) c.3247C>T (p.Pro1083Ser) | |
| 1 | g.16986140G>C | CA338231333 | ATP13A2 | c.*81C>G (n.*81C>G) c.3322C>G (p.Pro1108Ala) n.1670C>G c.1042C>G (p.Pro348Ala) c.3454C>G (p.Pro1152Ala) c.3451C>G (p.Pro1151Ala) c.3439C>G (p.Pro1147Ala) c.3427C>G (p.Pro1143Ala) c.3394C>G (p.Pro1132Ala) c.3337C>G (p.Pro1113Ala) c.3436C>G (p.Pro1146Ala) c.3412C>G (p.Pro1138Ala) c.3247C>G (p.Pro1083Ala) | |
| 1 | g.16986140G>T | CA338231335 | ATP13A2 | c.*81C>A (n.*81C>A) c.3322C>A (p.Pro1108Thr) n.1670C>A c.1042C>A (p.Pro348Thr) c.3454C>A (p.Pro1152Thr) c.3451C>A (p.Pro1151Thr) c.3439C>A (p.Pro1147Thr) c.3427C>A (p.Pro1143Thr) c.3394C>A (p.Pro1132Thr) c.3337C>A (p.Pro1113Thr) c.3436C>A (p.Pro1146Thr) c.3412C>A (p.Pro1138Thr) c.3247C>A (p.Pro1083Thr) | |
| 1 | g.16986141C>A | CA1156048914 | ATP13A2 | c.*80G>T (n.*80G>T) c.3321G>T (p.Pro1107=) n.1669G>T c.1041G>T (p.Pro347=) c.3453G>T (p.Pro1151=) c.3450G>T (p.Pro1150=) c.3438G>T (p.Pro1146=) c.3426G>T (p.Pro1142=) c.3393G>T (p.Pro1131=) c.3336G>T (p.Pro1112=) c.3435G>T (p.Pro1145=) c.3411G>T (p.Pro1137=) c.3246G>T (p.Pro1082=) | dbSNP gnomAD v4 |
| 1 | g.16986141C= | CA1156048913 | ATP13A2 | c.*80G= (n.*80G=) c.3321G= (p.Pro1107=) n.1669G= c.1041G= (p.Pro347=) c.3453G= (p.Pro1151=) c.3450G= (p.Pro1150=) c.3438G= (p.Pro1146=) c.3426G= (p.Pro1142=) c.3393G= (p.Pro1131=) c.3336G= (p.Pro1112=) c.3435G= (p.Pro1145=) c.3411G= (p.Pro1137=) c.3246G= (p.Pro1082=) | |
| 1 | g.16986141C>T | CA521449594 | ATP13A2 | c.*80G>A (n.*80G>A) c.3321G>A (p.Pro1107=) n.1669G>A c.1041G>A (p.Pro347=) c.3453G>A (p.Pro1151=) c.3450G>A (p.Pro1150=) c.3438G>A (p.Pro1146=) c.3426G>A (p.Pro1142=) c.3393G>A (p.Pro1131=) c.3336G>A (p.Pro1112=) c.3435G>A (p.Pro1145=) c.3411G>A (p.Pro1137=) c.3246G>A (p.Pro1082=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986142G>A | CA636435 | ATP13A2 | c.*79C>T (n.*79C>T) c.3320C>T (p.Pro1107Leu) n.1668C>T c.1040C>T (p.Pro347Leu) c.3452C>T (p.Pro1151Leu) c.3449C>T (p.Pro1150Leu) c.3437C>T (p.Pro1146Leu) c.3425C>T (p.Pro1142Leu) c.3392C>T (p.Pro1131Leu) c.3335C>T (p.Pro1112Leu) c.3434C>T (p.Pro1145Leu) c.3410C>T (p.Pro1137Leu) c.3245C>T (p.Pro1082Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986142G>C | CA338231337 | ATP13A2 | c.*79C>G (n.*79C>G) c.3320C>G (p.Pro1107Arg) n.1668C>G c.1040C>G (p.Pro347Arg) c.3452C>G (p.Pro1151Arg) c.3449C>G (p.Pro1150Arg) c.3437C>G (p.Pro1146Arg) c.3425C>G (p.Pro1142Arg) c.3392C>G (p.Pro1131Arg) c.3335C>G (p.Pro1112Arg) c.3434C>G (p.Pro1145Arg) c.3410C>G (p.Pro1137Arg) c.3245C>G (p.Pro1082Arg) | |
| 1 | g.16986142G= | CA1156048919 | ATP13A2 | c.*79C= (n.*79C=) c.3320C= (p.Pro1107=) n.1668C= c.1040C= (p.Pro347=) c.3452C= (p.Pro1151=) c.3449C= (p.Pro1150=) c.3437C= (p.Pro1146=) c.3425C= (p.Pro1142=) c.3392C= (p.Pro1131=) c.3335C= (p.Pro1112=) c.3434C= (p.Pro1145=) c.3410C= (p.Pro1137=) c.3245C= (p.Pro1082=) | |
| 1 | g.16986142G>T | CA636434 | ATP13A2 | c.*79C>A (n.*79C>A) c.3320C>A (p.Pro1107Gln) n.1668C>A c.1040C>A (p.Pro347Gln) c.3452C>A (p.Pro1151Gln) c.3449C>A (p.Pro1150Gln) c.3437C>A (p.Pro1146Gln) c.3425C>A (p.Pro1142Gln) c.3392C>A (p.Pro1131Gln) c.3335C>A (p.Pro1112Gln) c.3434C>A (p.Pro1145Gln) c.3410C>A (p.Pro1137Gln) c.3245C>A (p.Pro1082Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986143G>A | CA338231341 | ATP13A2 | c.*78C>T (n.*78C>T) c.3319C>T (p.Pro1107Ser) n.1667C>T c.1039C>T (p.Pro347Ser) c.3451C>T (p.Pro1151Ser) c.3448C>T (p.Pro1150Ser) c.3436C>T (p.Pro1146Ser) c.3424C>T (p.Pro1142Ser) c.3391C>T (p.Pro1131Ser) c.3334C>T (p.Pro1112Ser) c.3433C>T (p.Pro1145Ser) c.3409C>T (p.Pro1137Ser) c.3244C>T (p.Pro1082Ser) | gnomAD v4 |
| 1 | g.16986143G>C | CA338231351 | ATP13A2 | c.*78C>G (n.*78C>G) c.3319C>G (p.Pro1107Ala) n.1667C>G c.1039C>G (p.Pro347Ala) c.3451C>G (p.Pro1151Ala) c.3448C>G (p.Pro1150Ala) c.3436C>G (p.Pro1146Ala) c.3424C>G (p.Pro1142Ala) c.3391C>G (p.Pro1131Ala) c.3334C>G (p.Pro1112Ala) c.3433C>G (p.Pro1145Ala) c.3409C>G (p.Pro1137Ala) c.3244C>G (p.Pro1082Ala) | |
| 1 | g.16986143G>T | CA338231353 | ATP13A2 | c.*78C>A (n.*78C>A) c.3319C>A (p.Pro1107Thr) n.1667C>A c.1039C>A (p.Pro347Thr) c.3451C>A (p.Pro1151Thr) c.3448C>A (p.Pro1150Thr) c.3436C>A (p.Pro1146Thr) c.3424C>A (p.Pro1142Thr) c.3391C>A (p.Pro1131Thr) c.3334C>A (p.Pro1112Thr) c.3433C>A (p.Pro1145Thr) c.3409C>A (p.Pro1137Thr) c.3244C>A (p.Pro1082Thr) | gnomAD v4 |
| 1 | g.16986145G>A | CA636436 | ATP13A2 | c.*76C>T (n.*76C>T) c.3317C>T (p.Pro1106Leu) n.1665C>T c.1037C>T (p.Pro346Leu) c.3449C>T (p.Pro1150Leu) c.3446C>T (p.Pro1149Leu) c.3434C>T (p.Pro1145Leu) c.3422C>T (p.Pro1141Leu) c.3389C>T (p.Pro1130Leu) c.3332C>T (p.Pro1111Leu) c.3431C>T (p.Pro1144Leu) c.3407C>T (p.Pro1136Leu) c.3242C>T (p.Pro1081Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986145G>C | CA338231354 | ATP13A2 | c.*76C>G (n.*76C>G) c.3317C>G (p.Pro1106Arg) n.1665C>G c.1037C>G (p.Pro346Arg) c.3449C>G (p.Pro1150Arg) c.3446C>G (p.Pro1149Arg) c.3434C>G (p.Pro1145Arg) c.3422C>G (p.Pro1141Arg) c.3389C>G (p.Pro1130Arg) c.3332C>G (p.Pro1111Arg) c.3431C>G (p.Pro1144Arg) c.3407C>G (p.Pro1136Arg) c.3242C>G (p.Pro1081Arg) | |
| 1 | g.16986145G= | CA1156048921 | ATP13A2 | c.*76C= (n.*76C=) c.3317C= (p.Pro1106=) n.1665C= c.1037C= (p.Pro346=) c.3449C= (p.Pro1150=) c.3446C= (p.Pro1149=) c.3434C= (p.Pro1145=) c.3422C= (p.Pro1141=) c.3389C= (p.Pro1130=) c.3332C= (p.Pro1111=) c.3431C= (p.Pro1144=) c.3407C= (p.Pro1136=) c.3242C= (p.Pro1081=) | |
| 1 | g.16986145G>T | CA338231355 | ATP13A2 | c.*76C>A (n.*76C>A) c.3317C>A (p.Pro1106Gln) n.1665C>A c.1037C>A (p.Pro346Gln) c.3449C>A (p.Pro1150Gln) c.3446C>A (p.Pro1149Gln) c.3434C>A (p.Pro1145Gln) c.3422C>A (p.Pro1141Gln) c.3389C>A (p.Pro1130Gln) c.3332C>A (p.Pro1111Gln) c.3431C>A (p.Pro1144Gln) c.3407C>A (p.Pro1136Gln) c.3242C>A (p.Pro1081Gln) | |
| 1 | g.16986146G>A | CA338231356 | ATP13A2 | c.*75C>T (n.*75C>T) c.3316C>T (p.Pro1106Ser) n.1664C>T c.1036C>T (p.Pro346Ser) c.3448C>T (p.Pro1150Ser) c.3445C>T (p.Pro1149Ser) c.3433C>T (p.Pro1145Ser) c.3421C>T (p.Pro1141Ser) c.3388C>T (p.Pro1130Ser) c.3331C>T (p.Pro1111Ser) c.3430C>T (p.Pro1144Ser) c.3406C>T (p.Pro1136Ser) c.3241C>T (p.Pro1081Ser) | |
| 1 | g.16986146G>C | CA338231357 | ATP13A2 | c.*75C>G (n.*75C>G) c.3316C>G (p.Pro1106Ala) n.1664C>G c.1036C>G (p.Pro346Ala) c.3448C>G (p.Pro1150Ala) c.3445C>G (p.Pro1149Ala) c.3433C>G (p.Pro1145Ala) c.3421C>G (p.Pro1141Ala) c.3388C>G (p.Pro1130Ala) c.3331C>G (p.Pro1111Ala) c.3430C>G (p.Pro1144Ala) c.3406C>G (p.Pro1136Ala) c.3241C>G (p.Pro1081Ala) | |
| 1 | g.16986146G>T | CA338231358 | ATP13A2 | c.*75C>A (n.*75C>A) c.3316C>A (p.Pro1106Thr) n.1664C>A c.1036C>A (p.Pro346Thr) c.3448C>A (p.Pro1150Thr) c.3445C>A (p.Pro1149Thr) c.3433C>A (p.Pro1145Thr) c.3421C>A (p.Pro1141Thr) c.3388C>A (p.Pro1130Thr) c.3331C>A (p.Pro1111Thr) c.3430C>A (p.Pro1144Thr) c.3406C>A (p.Pro1136Thr) c.3241C>A (p.Pro1081Thr) | |
| 1 | g.16986147T>C | CA2740113482 | ATP13A2 | c.*74A>G (n.*74A>G) c.3315A>G (p.Thr1105=) n.1663A>G c.1035A>G (p.Thr345=) c.3447A>G (p.Thr1149=) c.3444A>G (p.Thr1148=) c.3432A>G (p.Thr1144=) c.3420A>G (p.Thr1140=) c.3387A>G (p.Thr1129=) c.3330A>G (p.Thr1110=) c.3429A>G (p.Thr1143=) c.3405A>G (p.Thr1135=) c.3240A>G (p.Thr1080=) | |
| 1 | g.16986147T>G | CA2742638034 | ATP13A2 | c.*74A>C (n.*74A>C) c.3315A>C (p.Thr1105=) n.1663A>C c.1035A>C (p.Thr345=) c.3447A>C (p.Thr1149=) c.3444A>C (p.Thr1148=) c.3432A>C (p.Thr1144=) c.3420A>C (p.Thr1140=) c.3387A>C (p.Thr1129=) c.3330A>C (p.Thr1110=) c.3429A>C (p.Thr1143=) c.3405A>C (p.Thr1135=) c.3240A>C (p.Thr1080=) | |
| 1 | g.16986148G>A | CA338231359 | ATP13A2 | c.*73C>T (n.*73C>T) c.3314C>T (p.Thr1105Ile) n.1662C>T c.1034C>T (p.Thr345Ile) c.3446C>T (p.Thr1149Ile) c.3443C>T (p.Thr1148Ile) c.3431C>T (p.Thr1144Ile) c.3419C>T (p.Thr1140Ile) c.3386C>T (p.Thr1129Ile) c.3329C>T (p.Thr1110Ile) c.3428C>T (p.Thr1143Ile) c.3404C>T (p.Thr1135Ile) c.3239C>T (p.Thr1080Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986148G>C | CA338231360 | ATP13A2 | c.*73C>G (n.*73C>G) c.3314C>G (p.Thr1105Arg) n.1662C>G c.1034C>G (p.Thr345Arg) c.3446C>G (p.Thr1149Arg) c.3443C>G (p.Thr1148Arg) c.3431C>G (p.Thr1144Arg) c.3419C>G (p.Thr1140Arg) c.3386C>G (p.Thr1129Arg) c.3329C>G (p.Thr1110Arg) c.3428C>G (p.Thr1143Arg) c.3404C>G (p.Thr1135Arg) c.3239C>G (p.Thr1080Arg) | |
| 1 | g.16986148G= | CA1156048924 | ATP13A2 | c.*73C= (n.*73C=) c.3314C= (p.Thr1105=) n.1662C= c.1034C= (p.Thr345=) c.3446C= (p.Thr1149=) c.3443C= (p.Thr1148=) c.3431C= (p.Thr1144=) c.3419C= (p.Thr1140=) c.3386C= (p.Thr1129=) c.3329C= (p.Thr1110=) c.3428C= (p.Thr1143=) c.3404C= (p.Thr1135=) c.3239C= (p.Thr1080=) | |
| 1 | g.16986148G>T | CA338231361 | ATP13A2 | c.*73C>A (n.*73C>A) c.3314C>A (p.Thr1105Lys) n.1662C>A c.1034C>A (p.Thr345Lys) c.3446C>A (p.Thr1149Lys) c.3443C>A (p.Thr1148Lys) c.3431C>A (p.Thr1144Lys) c.3419C>A (p.Thr1140Lys) c.3386C>A (p.Thr1129Lys) c.3329C>A (p.Thr1110Lys) c.3428C>A (p.Thr1143Lys) c.3404C>A (p.Thr1135Lys) c.3239C>A (p.Thr1080Lys) | |
| 1 | g.16986149T>A | CA338231370 | ATP13A2 | c.*72A>T (n.*72A>T) c.3313A>T (p.Thr1105Ser) n.1661A>T c.1033A>T (p.Thr345Ser) c.3445A>T (p.Thr1149Ser) c.3442A>T (p.Thr1148Ser) c.3430A>T (p.Thr1144Ser) c.3418A>T (p.Thr1140Ser) c.3385A>T (p.Thr1129Ser) c.3328A>T (p.Thr1110Ser) c.3427A>T (p.Thr1143Ser) c.3403A>T (p.Thr1135Ser) c.3238A>T (p.Thr1080Ser) | |
| 1 | g.16986149T>C | CA338231368 | ATP13A2 | c.*72A>G (n.*72A>G) c.3313A>G (p.Thr1105Ala) n.1661A>G c.1033A>G (p.Thr345Ala) c.3445A>G (p.Thr1149Ala) c.3442A>G (p.Thr1148Ala) c.3430A>G (p.Thr1144Ala) c.3418A>G (p.Thr1140Ala) c.3385A>G (p.Thr1129Ala) c.3328A>G (p.Thr1110Ala) c.3427A>G (p.Thr1143Ala) c.3403A>G (p.Thr1135Ala) c.3238A>G (p.Thr1080Ala) | |
| 1 | g.16986149T>G | CA338231363 | ATP13A2 | c.*72A>C (n.*72A>C) c.3313A>C (p.Thr1105Pro) n.1661A>C c.1033A>C (p.Thr345Pro) c.3445A>C (p.Thr1149Pro) c.3442A>C (p.Thr1148Pro) c.3430A>C (p.Thr1144Pro) c.3418A>C (p.Thr1140Pro) c.3385A>C (p.Thr1129Pro) c.3328A>C (p.Thr1110Pro) c.3427A>C (p.Thr1143Pro) c.3403A>C (p.Thr1135Pro) c.3238A>C (p.Thr1080Pro) | |
| 1 | g.16986150T>C | CA1156048932 | ATP13A2 | c.*71A>G (n.*71A>G) c.3312A>G (p.Ala1104=) n.1660A>G c.1032A>G (p.Ala344=) c.3444A>G (p.Ala1148=) c.3441A>G (p.Ala1147=) c.3429A>G (p.Ala1143=) c.3417A>G (p.Ala1139=) c.3384A>G (p.Ala1128=) c.3327A>G (p.Ala1109=) c.3426A>G (p.Ala1142=) c.3402A>G (p.Ala1134=) c.3237A>G (p.Ala1079=) | dbSNP gnomAD v4 |
| 1 | g.16986150T= | CA1156048929 | ATP13A2 | c.*71A= (n.*71A=) c.3312A= (p.Ala1104=) n.1660A= c.1032A= (p.Ala344=) c.3444A= (p.Ala1148=) c.3441A= (p.Ala1147=) c.3429A= (p.Ala1143=) c.3417A= (p.Ala1139=) c.3384A= (p.Ala1128=) c.3327A= (p.Ala1109=) c.3426A= (p.Ala1142=) c.3402A= (p.Ala1134=) c.3237A= (p.Ala1079=) | |
| 1 | g.16986151G>A | CA338231372 | ATP13A2 | c.*70C>T (n.*70C>T) c.3311C>T (p.Ala1104Val) n.1659C>T c.1031C>T (p.Ala344Val) c.3443C>T (p.Ala1148Val) c.3440C>T (p.Ala1147Val) c.3428C>T (p.Ala1143Val) c.3416C>T (p.Ala1139Val) c.3383C>T (p.Ala1128Val) c.3326C>T (p.Ala1109Val) c.3425C>T (p.Ala1142Val) c.3401C>T (p.Ala1134Val) c.3236C>T (p.Ala1079Val) | gnomAD v4 |
| 1 | g.16986151G>C | CA338231376 | ATP13A2 | c.*70C>G (n.*70C>G) c.3311C>G (p.Ala1104Gly) n.1659C>G c.1031C>G (p.Ala344Gly) c.3443C>G (p.Ala1148Gly) c.3440C>G (p.Ala1147Gly) c.3428C>G (p.Ala1143Gly) c.3416C>G (p.Ala1139Gly) c.3383C>G (p.Ala1128Gly) c.3326C>G (p.Ala1109Gly) c.3425C>G (p.Ala1142Gly) c.3401C>G (p.Ala1134Gly) c.3236C>G (p.Ala1079Gly) | |
| 1 | g.16986151G>T | CA338231373 | ATP13A2 | c.*70C>A (n.*70C>A) c.3311C>A (p.Ala1104Glu) n.1659C>A c.1031C>A (p.Ala344Glu) c.3443C>A (p.Ala1148Glu) c.3440C>A (p.Ala1147Glu) c.3428C>A (p.Ala1143Glu) c.3416C>A (p.Ala1139Glu) c.3383C>A (p.Ala1128Glu) c.3326C>A (p.Ala1109Glu) c.3425C>A (p.Ala1142Glu) c.3401C>A (p.Ala1134Glu) c.3236C>A (p.Ala1079Glu) | |
| 1 | g.16986152C>A | CA338231378 | ATP13A2 | c.*69G>T (n.*69G>T) c.3310G>T (p.Ala1104Ser) n.1658G>T c.1030G>T (p.Ala344Ser) c.3442G>T (p.Ala1148Ser) c.3439G>T (p.Ala1147Ser) c.3427G>T (p.Ala1143Ser) c.3415G>T (p.Ala1139Ser) c.3382G>T (p.Ala1128Ser) c.3325G>T (p.Ala1109Ser) c.3424G>T (p.Ala1142Ser) c.3400G>T (p.Ala1134Ser) c.3235G>T (p.Ala1079Ser) | gnomAD v4 |
| 1 | g.16986152C>G | CA338231380 | ATP13A2 | c.*69G>C (n.*69G>C) c.3310G>C (p.Ala1104Pro) n.1658G>C c.1030G>C (p.Ala344Pro) c.3442G>C (p.Ala1148Pro) c.3439G>C (p.Ala1147Pro) c.3427G>C (p.Ala1143Pro) c.3415G>C (p.Ala1139Pro) c.3382G>C (p.Ala1128Pro) c.3325G>C (p.Ala1109Pro) c.3424G>C (p.Ala1142Pro) c.3400G>C (p.Ala1134Pro) c.3235G>C (p.Ala1079Pro) | |
| 1 | g.16986152C>T | CA338231382 | ATP13A2 | c.*69G>A (n.*69G>A) c.3310G>A (p.Ala1104Thr) n.1658G>A c.1030G>A (p.Ala344Thr) c.3442G>A (p.Ala1148Thr) c.3439G>A (p.Ala1147Thr) c.3427G>A (p.Ala1143Thr) c.3415G>A (p.Ala1139Thr) c.3382G>A (p.Ala1128Thr) c.3325G>A (p.Ala1109Thr) c.3424G>A (p.Ala1142Thr) c.3400G>A (p.Ala1134Thr) c.3235G>A (p.Ala1079Thr) | gnomAD v4 |
| 1 | g.16986153_16986154delinsTG | CA1156048938 | ATP13A2 | c.*67_*68delinsCA (n.*67_*68delinsCA) c.3308_3309delinsCA (p.Pro1103=) n.1656_1657delinsCA c.1028_1029delinsCA (p.Pro343=) c.3440_3441delinsCA (p.Pro1147=) c.3437_3438delinsCA (p.Pro1146=) c.3425_3426delinsCA (p.Pro1142=) c.3413_3414delinsCA (p.Pro1138=) c.3380_3381delinsCA (p.Pro1127=) c.3323_3324delinsCA (p.Pro1108=) c.3422_3423delinsCA (p.Pro1141=) c.3398_3399delinsCA (p.Pro1133=) c.3233_3234delinsCA (p.Pro1078=) | |
| 1 | g.16986154G>A | CA338231384 | ATP13A2 | c.*67C>T (n.*67C>T) c.3308C>T (p.Pro1103Leu) n.1656C>T c.1028C>T (p.Pro343Leu) c.3440C>T (p.Pro1147Leu) c.3437C>T (p.Pro1146Leu) c.3425C>T (p.Pro1142Leu) c.3413C>T (p.Pro1138Leu) c.3380C>T (p.Pro1127Leu) c.3323C>T (p.Pro1108Leu) c.3422C>T (p.Pro1141Leu) c.3398C>T (p.Pro1133Leu) c.3233C>T (p.Pro1078Leu) | |
| 1 | g.16986154G>C | CA338231387 | ATP13A2 | c.*67C>G (n.*67C>G) c.3308C>G (p.Pro1103Arg) n.1656C>G c.1028C>G (p.Pro343Arg) c.3440C>G (p.Pro1147Arg) c.3437C>G (p.Pro1146Arg) c.3425C>G (p.Pro1142Arg) c.3413C>G (p.Pro1138Arg) c.3380C>G (p.Pro1127Arg) c.3323C>G (p.Pro1108Arg) c.3422C>G (p.Pro1141Arg) c.3398C>G (p.Pro1133Arg) c.3233C>G (p.Pro1078Arg) | |
| 1 | g.16986154G>T | CA338231398 | ATP13A2 | c.*67C>A (n.*67C>A) c.3308C>A (p.Pro1103Gln) n.1656C>A c.1028C>A (p.Pro343Gln) c.3440C>A (p.Pro1147Gln) c.3437C>A (p.Pro1146Gln) c.3425C>A (p.Pro1142Gln) c.3413C>A (p.Pro1138Gln) c.3380C>A (p.Pro1127Gln) c.3323C>A (p.Pro1108Gln) c.3422C>A (p.Pro1141Gln) c.3398C>A (p.Pro1133Gln) c.3233C>A (p.Pro1078Gln) | dbSNP |
| 1 | g.16986154_16986155delinsAA | CA645512528 | ATP13A2 | c.*66_*67delinsTT (n.*66_*67delinsTT) c.3307_3308delinsTT (p.Pro1103Leu) n.1655_1656delinsTT c.1027_1028delinsTT (p.Pro343Leu) c.3439_3440delinsTT (p.Pro1147Leu) c.3436_3437delinsTT (p.Pro1146Leu) c.3424_3425delinsTT (p.Pro1142Leu) c.3412_3413delinsTT (p.Pro1138Leu) c.3379_3380delinsTT (p.Pro1127Leu) c.3322_3323delinsTT (p.Pro1108Leu) c.3421_3422delinsTT (p.Pro1141Leu) c.3397_3398delinsTT (p.Pro1133Leu) c.3232_3233delinsTT (p.Pro1078Leu) | COSMIC |
| 1 | g.16986155del | CA521449599 | ATP13A2 | c.*67del (n.*67del) c.3308del (p.Pro1103GlnfsTer12) n.1656del c.1028del (p.Pro343GlnfsTer12) c.3440del (p.Pro1147GlnfsTer12) c.3437del (p.Pro1146GlnfsTer12) c.3425del (p.Pro1142GlnfsTer12) c.3413del (p.Pro1138GlnfsTer12) c.3380del (p.Pro1127GlnfsTer12) c.3323del (p.Pro1108GlnfsTer12) c.3422del (p.Pro1141GlnfsTer12) c.3398del (p.Pro1133GlnfsTer12) c.3233del (p.Pro1078GlnfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986155G>A | CA338231400 | ATP13A2 | c.*66C>T (n.*66C>T) c.3307C>T (p.Pro1103Ser) n.1655C>T c.1027C>T (p.Pro343Ser) c.3439C>T (p.Pro1147Ser) c.3436C>T (p.Pro1146Ser) c.3424C>T (p.Pro1142Ser) c.3412C>T (p.Pro1138Ser) c.3379C>T (p.Pro1127Ser) c.3322C>T (p.Pro1108Ser) c.3421C>T (p.Pro1141Ser) c.3397C>T (p.Pro1133Ser) c.3232C>T (p.Pro1078Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986155G>C | CA338231402 | ATP13A2 | c.*66C>G (n.*66C>G) c.3307C>G (p.Pro1103Ala) n.1655C>G c.1027C>G (p.Pro343Ala) c.3439C>G (p.Pro1147Ala) c.3436C>G (p.Pro1146Ala) c.3424C>G (p.Pro1142Ala) c.3412C>G (p.Pro1138Ala) c.3379C>G (p.Pro1127Ala) c.3322C>G (p.Pro1108Ala) c.3421C>G (p.Pro1141Ala) c.3397C>G (p.Pro1133Ala) c.3232C>G (p.Pro1078Ala) | |
| 1 | g.16986155G= | CA1156048955 | ATP13A2 | c.*66C= (n.*66C=) c.3307C= (p.Pro1103=) n.1655C= c.1027C= (p.Pro343=) c.3439C= (p.Pro1147=) c.3436C= (p.Pro1146=) c.3424C= (p.Pro1142=) c.3412C= (p.Pro1138=) c.3379C= (p.Pro1127=) c.3322C= (p.Pro1108=) c.3421C= (p.Pro1141=) c.3397C= (p.Pro1133=) c.3232C= (p.Pro1078=) | |
| 1 | g.16986155G>T | CA338231408 | ATP13A2 | c.*66C>A (n.*66C>A) c.3307C>A (p.Pro1103Thr) n.1655C>A c.1027C>A (p.Pro343Thr) c.3439C>A (p.Pro1147Thr) c.3436C>A (p.Pro1146Thr) c.3424C>A (p.Pro1142Thr) c.3412C>A (p.Pro1138Thr) c.3379C>A (p.Pro1127Thr) c.3322C>A (p.Pro1108Thr) c.3421C>A (p.Pro1141Thr) c.3397C>A (p.Pro1133Thr) c.3232C>A (p.Pro1078Thr) | gnomAD v4 |
| 1 | g.16986156A>C | CA2643667978 | ATP13A2 | c.*65T>G (n.*65T>G) c.3306T>G (p.Ser1102=) n.1654T>G c.1026T>G (p.Ser342=) c.3438T>G (p.Ser1146=) c.3435T>G (p.Ser1145=) c.3423T>G (p.Ser1141=) c.3411T>G (p.Ser1137=) c.3378T>G (p.Ser1126=) c.3321T>G (p.Ser1107=) c.3420T>G (p.Ser1140=) c.3396T>G (p.Ser1132=) c.3231T>G (p.Ser1077=) | gnomAD v4 |
| 1 | g.16986157G>A | CA338231411 | ATP13A2 | c.*64C>T (n.*64C>T) c.3305C>T (p.Ser1102Phe) n.1653C>T c.1025C>T (p.Ser342Phe) c.3437C>T (p.Ser1146Phe) c.3434C>T (p.Ser1145Phe) c.3422C>T (p.Ser1141Phe) c.3410C>T (p.Ser1137Phe) c.3377C>T (p.Ser1126Phe) c.3320C>T (p.Ser1107Phe) c.3419C>T (p.Ser1140Phe) c.3395C>T (p.Ser1132Phe) c.3230C>T (p.Ser1077Phe) | dbSNP |
| 1 | g.16986157G>C | CA18624462 | ATP13A2 | c.*64C>G (n.*64C>G) c.3305C>G (p.Ser1102Cys) n.1653C>G c.1025C>G (p.Ser342Cys) c.3437C>G (p.Ser1146Cys) c.3434C>G (p.Ser1145Cys) c.3422C>G (p.Ser1141Cys) c.3410C>G (p.Ser1137Cys) c.3377C>G (p.Ser1126Cys) c.3320C>G (p.Ser1107Cys) c.3419C>G (p.Ser1140Cys) c.3395C>G (p.Ser1132Cys) c.3230C>G (p.Ser1077Cys) | dbSNP |
| 1 | g.16986157G= | CA1156048961 | ATP13A2 | c.*64C= (n.*64C=) c.3305C= (p.Ser1102=) n.1653C= c.1025C= (p.Ser342=) c.3437C= (p.Ser1146=) c.3434C= (p.Ser1145=) c.3422C= (p.Ser1141=) c.3410C= (p.Ser1137=) c.3377C= (p.Ser1126=) c.3320C= (p.Ser1107=) c.3419C= (p.Ser1140=) c.3395C= (p.Ser1132=) c.3230C= (p.Ser1077=) | |
| 1 | g.16986157G>T | CA338231417 | ATP13A2 | c.*64C>A (n.*64C>A) c.3305C>A (p.Ser1102Tyr) n.1653C>A c.1025C>A (p.Ser342Tyr) c.3437C>A (p.Ser1146Tyr) c.3434C>A (p.Ser1145Tyr) c.3422C>A (p.Ser1141Tyr) c.3410C>A (p.Ser1137Tyr) c.3377C>A (p.Ser1126Tyr) c.3320C>A (p.Ser1107Tyr) c.3419C>A (p.Ser1140Tyr) c.3395C>A (p.Ser1132Tyr) c.3230C>A (p.Ser1077Tyr) | |
| 1 | g.16986158A>C | CA338231431 | ATP13A2 | c.*63T>G (n.*63T>G) c.3304T>G (p.Ser1102Ala) n.1652T>G c.1024T>G (p.Ser342Ala) c.3436T>G (p.Ser1146Ala) c.3433T>G (p.Ser1145Ala) c.3421T>G (p.Ser1141Ala) c.3409T>G (p.Ser1137Ala) c.3376T>G (p.Ser1126Ala) c.3319T>G (p.Ser1107Ala) c.3418T>G (p.Ser1140Ala) c.3394T>G (p.Ser1132Ala) c.3229T>G (p.Ser1077Ala) | |
| 1 | g.16986158A>G | CA338231420 | ATP13A2 | c.*63T>C (n.*63T>C) c.3304T>C (p.Ser1102Pro) n.1652T>C c.1024T>C (p.Ser342Pro) c.3436T>C (p.Ser1146Pro) c.3433T>C (p.Ser1145Pro) c.3421T>C (p.Ser1141Pro) c.3409T>C (p.Ser1137Pro) c.3376T>C (p.Ser1126Pro) c.3319T>C (p.Ser1107Pro) c.3418T>C (p.Ser1140Pro) c.3394T>C (p.Ser1132Pro) c.3229T>C (p.Ser1077Pro) | |
| 1 | g.16986158A>T | CA338231424 | ATP13A2 | c.*63T>A (n.*63T>A) c.3304T>A (p.Ser1102Thr) n.1652T>A c.1024T>A (p.Ser342Thr) c.3436T>A (p.Ser1146Thr) c.3433T>A (p.Ser1145Thr) c.3421T>A (p.Ser1141Thr) c.3409T>A (p.Ser1137Thr) c.3376T>A (p.Ser1126Thr) c.3319T>A (p.Ser1107Thr) c.3418T>A (p.Ser1140Thr) c.3394T>A (p.Ser1132Thr) c.3229T>A (p.Ser1077Thr) | |
| 1 | g.16986159G>C | CA2643667980 | ATP13A2 | c.*62C>G (n.*62C>G) c.3303C>G (p.Pro1101=) n.1651C>G c.1023C>G (p.Pro341=) c.3435C>G (p.Pro1145=) c.3432C>G (p.Pro1144=) c.3420C>G (p.Pro1140=) c.3408C>G (p.Pro1136=) c.3375C>G (p.Pro1125=) c.3318C>G (p.Pro1106=) c.3417C>G (p.Pro1139=) c.3393C>G (p.Pro1131=) c.3228C>G (p.Pro1076=) | gnomAD v4 |
| 1 | g.16986160G>A | CA636437 | ATP13A2 | c.*61C>T (n.*61C>T) c.3302C>T (p.Pro1101Leu) n.1650C>T c.1022C>T (p.Pro341Leu) c.3434C>T (p.Pro1145Leu) c.3431C>T (p.Pro1144Leu) c.3419C>T (p.Pro1140Leu) c.3407C>T (p.Pro1136Leu) c.3374C>T (p.Pro1125Leu) c.3317C>T (p.Pro1106Leu) c.3416C>T (p.Pro1139Leu) c.3392C>T (p.Pro1131Leu) c.3227C>T (p.Pro1076Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986160G>C | CA338231432 | ATP13A2 | c.*61C>G (n.*61C>G) c.3302C>G (p.Pro1101Arg) n.1650C>G c.1022C>G (p.Pro341Arg) c.3434C>G (p.Pro1145Arg) c.3431C>G (p.Pro1144Arg) c.3419C>G (p.Pro1140Arg) c.3407C>G (p.Pro1136Arg) c.3374C>G (p.Pro1125Arg) c.3317C>G (p.Pro1106Arg) c.3416C>G (p.Pro1139Arg) c.3392C>G (p.Pro1131Arg) c.3227C>G (p.Pro1076Arg) | |
| 1 | g.16986160G= | CA1156048979 | ATP13A2 | c.*61C= (n.*61C=) c.3302C= (p.Pro1101=) n.1650C= c.1022C= (p.Pro341=) c.3434C= (p.Pro1145=) c.3431C= (p.Pro1144=) c.3419C= (p.Pro1140=) c.3407C= (p.Pro1136=) c.3374C= (p.Pro1125=) c.3317C= (p.Pro1106=) c.3416C= (p.Pro1139=) c.3392C= (p.Pro1131=) c.3227C= (p.Pro1076=) | |
| 1 | g.16986160G>T | CA338231433 | ATP13A2 | c.*61C>A (n.*61C>A) c.3302C>A (p.Pro1101His) n.1650C>A c.1022C>A (p.Pro341His) c.3434C>A (p.Pro1145His) c.3431C>A (p.Pro1144His) c.3419C>A (p.Pro1140His) c.3407C>A (p.Pro1136His) c.3374C>A (p.Pro1125His) c.3317C>A (p.Pro1106His) c.3416C>A (p.Pro1139His) c.3392C>A (p.Pro1131His) c.3227C>A (p.Pro1076His) | COSMIC |
| 1 | g.16986161G>A | CA338231434 | ATP13A2 | c.*60C>T (n.*60C>T) c.3301C>T (p.Pro1101Ser) n.1649C>T c.1021C>T (p.Pro341Ser) c.3433C>T (p.Pro1145Ser) c.3430C>T (p.Pro1144Ser) c.3418C>T (p.Pro1140Ser) c.3406C>T (p.Pro1136Ser) c.3373C>T (p.Pro1125Ser) c.3316C>T (p.Pro1106Ser) c.3415C>T (p.Pro1139Ser) c.3391C>T (p.Pro1131Ser) c.3226C>T (p.Pro1076Ser) | |
| 1 | g.16986161G>C | CA338231436 | ATP13A2 | c.*60C>G (n.*60C>G) c.3301C>G (p.Pro1101Ala) n.1649C>G c.1021C>G (p.Pro341Ala) c.3433C>G (p.Pro1145Ala) c.3430C>G (p.Pro1144Ala) c.3418C>G (p.Pro1140Ala) c.3406C>G (p.Pro1136Ala) c.3373C>G (p.Pro1125Ala) c.3316C>G (p.Pro1106Ala) c.3415C>G (p.Pro1139Ala) c.3391C>G (p.Pro1131Ala) c.3226C>G (p.Pro1076Ala) | |
| 1 | g.16986161G>T | CA338231437 | ATP13A2 | c.*60C>A (n.*60C>A) c.3301C>A (p.Pro1101Thr) n.1649C>A c.1021C>A (p.Pro341Thr) c.3433C>A (p.Pro1145Thr) c.3430C>A (p.Pro1144Thr) c.3418C>A (p.Pro1140Thr) c.3406C>A (p.Pro1136Thr) c.3373C>A (p.Pro1125Thr) c.3316C>A (p.Pro1106Thr) c.3415C>A (p.Pro1139Thr) c.3391C>A (p.Pro1131Thr) c.3226C>A (p.Pro1076Thr) | |
| 1 | g.16986162G>A | CA1156048990 | ATP13A2 | c.*59C>T (n.*59C>T) c.3300C>T (p.Asp1100=) n.1648C>T c.1020C>T (p.Asp340=) c.3432C>T (p.Asp1144=) c.3429C>T (p.Asp1143=) c.3417C>T (p.Asp1139=) c.3405C>T (p.Asp1135=) c.3372C>T (p.Asp1124=) c.3315C>T (p.Asp1105=) c.3414C>T (p.Asp1138=) c.3390C>T (p.Asp1130=) c.3225C>T (p.Asp1075=) | dbSNP gnomAD v4 |
| 1 | g.16986162G>C | CA338231440 | ATP13A2 | c.*59C>G (n.*59C>G) c.3300C>G (p.Asp1100Glu) n.1648C>G c.1020C>G (p.Asp340Glu) c.3432C>G (p.Asp1144Glu) c.3429C>G (p.Asp1143Glu) c.3417C>G (p.Asp1139Glu) c.3405C>G (p.Asp1135Glu) c.3372C>G (p.Asp1124Glu) c.3315C>G (p.Asp1105Glu) c.3414C>G (p.Asp1138Glu) c.3390C>G (p.Asp1130Glu) c.3225C>G (p.Asp1075Glu) | |
| 1 | g.16986162G= | CA1156048987 | ATP13A2 | c.*59C= (n.*59C=) c.3300C= (p.Asp1100=) n.1648C= c.1020C= (p.Asp340=) c.3432C= (p.Asp1144=) c.3429C= (p.Asp1143=) c.3417C= (p.Asp1139=) c.3405C= (p.Asp1135=) c.3372C= (p.Asp1124=) c.3315C= (p.Asp1105=) c.3414C= (p.Asp1138=) c.3390C= (p.Asp1130=) c.3225C= (p.Asp1075=) | |
| 1 | g.16986162G>T | CA338231442 | ATP13A2 | c.*59C>A (n.*59C>A) c.3300C>A (p.Asp1100Glu) n.1648C>A c.1020C>A (p.Asp340Glu) c.3432C>A (p.Asp1144Glu) c.3429C>A (p.Asp1143Glu) c.3417C>A (p.Asp1139Glu) c.3405C>A (p.Asp1135Glu) c.3372C>A (p.Asp1124Glu) c.3315C>A (p.Asp1105Glu) c.3414C>A (p.Asp1138Glu) c.3390C>A (p.Asp1130Glu) c.3225C>A (p.Asp1075Glu) | |
| 1 | g.16986163T>A | CA338231443 | ATP13A2 | c.*58A>T (n.*58A>T) c.3299A>T (p.Asp1100Val) n.1647A>T c.1019A>T (p.Asp340Val) c.3431A>T (p.Asp1144Val) c.3428A>T (p.Asp1143Val) c.3416A>T (p.Asp1139Val) c.3404A>T (p.Asp1135Val) c.3371A>T (p.Asp1124Val) c.3314A>T (p.Asp1105Val) c.3413A>T (p.Asp1138Val) c.3389A>T (p.Asp1130Val) c.3224A>T (p.Asp1075Val) | |
| 1 | g.16986163T>C | CA636438 | ATP13A2 | c.*58A>G (n.*58A>G) c.3299A>G (p.Asp1100Gly) n.1647A>G c.1019A>G (p.Asp340Gly) c.3431A>G (p.Asp1144Gly) c.3428A>G (p.Asp1143Gly) c.3416A>G (p.Asp1139Gly) c.3404A>G (p.Asp1135Gly) c.3371A>G (p.Asp1124Gly) c.3314A>G (p.Asp1105Gly) c.3413A>G (p.Asp1138Gly) c.3389A>G (p.Asp1130Gly) c.3224A>G (p.Asp1075Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986163T>G | CA338231454 | ATP13A2 | c.*58A>C (n.*58A>C) c.3299A>C (p.Asp1100Ala) n.1647A>C c.1019A>C (p.Asp340Ala) c.3431A>C (p.Asp1144Ala) c.3428A>C (p.Asp1143Ala) c.3416A>C (p.Asp1139Ala) c.3404A>C (p.Asp1135Ala) c.3371A>C (p.Asp1124Ala) c.3314A>C (p.Asp1105Ala) c.3413A>C (p.Asp1138Ala) c.3389A>C (p.Asp1130Ala) c.3224A>C (p.Asp1075Ala) | gnomAD v4 |
| 1 | g.16986163T= | CA1143642472 | ATP13A2 | c.*58A= (n.*58A=) c.3299A= (p.Asp1100=) n.1647A= c.1019A= (p.Asp340=) c.3431A= (p.Asp1144=) c.3428A= (p.Asp1143=) c.3416A= (p.Asp1139=) c.3404A= (p.Asp1135=) c.3371A= (p.Asp1124=) c.3314A= (p.Asp1105=) c.3413A= (p.Asp1138=) c.3389A= (p.Asp1130=) c.3224A= (p.Asp1075=) | |
| 1 | g.16986164C>A | CA338231471 | ATP13A2 | c.*57G>T (n.*57G>T) c.3298G>T (p.Asp1100Tyr) n.1646G>T c.1018G>T (p.Asp340Tyr) c.3430G>T (p.Asp1144Tyr) c.3427G>T (p.Asp1143Tyr) c.3415G>T (p.Asp1139Tyr) c.3403G>T (p.Asp1135Tyr) c.3370G>T (p.Asp1124Tyr) c.3313G>T (p.Asp1105Tyr) c.3412G>T (p.Asp1138Tyr) c.3388G>T (p.Asp1130Tyr) c.3223G>T (p.Asp1075Tyr) | |
| 1 | g.16986164C>G | CA338231468 | ATP13A2 | c.*57G>C (n.*57G>C) c.3298G>C (p.Asp1100His) n.1646G>C c.1018G>C (p.Asp340His) c.3430G>C (p.Asp1144His) c.3427G>C (p.Asp1143His) c.3415G>C (p.Asp1139His) c.3403G>C (p.Asp1135His) c.3370G>C (p.Asp1124His) c.3313G>C (p.Asp1105His) c.3412G>C (p.Asp1138His) c.3388G>C (p.Asp1130His) c.3223G>C (p.Asp1075His) | |
| 1 | g.16986164C>T | CA338231457 | ATP13A2 | c.*57G>A (n.*57G>A) c.3298G>A (p.Asp1100Asn) n.1646G>A c.1018G>A (p.Asp340Asn) c.3430G>A (p.Asp1144Asn) c.3427G>A (p.Asp1143Asn) c.3415G>A (p.Asp1139Asn) c.3403G>A (p.Asp1135Asn) c.3370G>A (p.Asp1124Asn) c.3313G>A (p.Asp1105Asn) c.3412G>A (p.Asp1138Asn) c.3388G>A (p.Asp1130Asn) c.3223G>A (p.Asp1075Asn) | |
| 1 | g.16986165C= | CA1156048997 | ATP13A2 | c.*56G= (n.*56G=) c.3297G= (p.Leu1099=) n.1645G= c.1017G= (p.Leu339=) c.3429G= (p.Leu1143=) c.3426G= (p.Leu1142=) c.3414G= (p.Leu1138=) c.3402G= (p.Leu1134=) c.3369G= (p.Leu1123=) c.3312G= (p.Leu1104=) c.3411G= (p.Leu1137=) c.3387G= (p.Leu1129=) c.3222G= (p.Leu1074=) | |
| 1 | g.16986165C>G | CA636439 | ATP13A2 | c.*56G>C (n.*56G>C) c.3297G>C (p.Leu1099=) n.1645G>C c.1017G>C (p.Leu339=) c.3429G>C (p.Leu1143=) c.3426G>C (p.Leu1142=) c.3414G>C (p.Leu1138=) c.3402G>C (p.Leu1134=) c.3369G>C (p.Leu1123=) c.3312G>C (p.Leu1104=) c.3411G>C (p.Leu1137=) c.3387G>C (p.Leu1129=) c.3222G>C (p.Leu1074=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986166A= | CA1156049002 | ATP13A2 | c.*55T= (n.*55T=) c.3296T= (p.Leu1099=) n.1644T= c.1016T= (p.Leu339=) c.3428T= (p.Leu1143=) c.3425T= (p.Leu1142=) c.3413T= (p.Leu1138=) c.3401T= (p.Leu1134=) c.3368T= (p.Leu1123=) c.3311T= (p.Leu1104=) c.3410T= (p.Leu1137=) c.3386T= (p.Leu1129=) c.3221T= (p.Leu1074=) | |
| 1 | g.16986166A>C | CA338231475 | ATP13A2 | c.*55T>G (n.*55T>G) c.3296T>G (p.Leu1099Arg) n.1644T>G c.1016T>G (p.Leu339Arg) c.3428T>G (p.Leu1143Arg) c.3425T>G (p.Leu1142Arg) c.3413T>G (p.Leu1138Arg) c.3401T>G (p.Leu1134Arg) c.3368T>G (p.Leu1123Arg) c.3311T>G (p.Leu1104Arg) c.3410T>G (p.Leu1137Arg) c.3386T>G (p.Leu1129Arg) c.3221T>G (p.Leu1074Arg) | |
| 1 | g.16986166A>G | CA636440 | ATP13A2 | c.*55T>C (n.*55T>C) c.3296T>C (p.Leu1099Pro) n.1644T>C c.1016T>C (p.Leu339Pro) c.3428T>C (p.Leu1143Pro) c.3425T>C (p.Leu1142Pro) c.3413T>C (p.Leu1138Pro) c.3401T>C (p.Leu1134Pro) c.3368T>C (p.Leu1123Pro) c.3311T>C (p.Leu1104Pro) c.3410T>C (p.Leu1137Pro) c.3386T>C (p.Leu1129Pro) c.3221T>C (p.Leu1074Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986166A>T | CA338231479 | ATP13A2 | c.*55T>A (n.*55T>A) c.3296T>A (p.Leu1099Gln) n.1644T>A c.1016T>A (p.Leu339Gln) c.3428T>A (p.Leu1143Gln) c.3425T>A (p.Leu1142Gln) c.3413T>A (p.Leu1138Gln) c.3401T>A (p.Leu1134Gln) c.3368T>A (p.Leu1123Gln) c.3311T>A (p.Leu1104Gln) c.3410T>A (p.Leu1137Gln) c.3386T>A (p.Leu1129Gln) c.3221T>A (p.Leu1074Gln) | |
| 1 | g.16986167G>A | CA2643667989 | ATP13A2 | c.*54C>T (n.*54C>T) c.3295C>T (p.Leu1099=) n.1643C>T c.1015C>T (p.Leu339=) c.3427C>T (p.Leu1143=) c.3424C>T (p.Leu1142=) c.3412C>T (p.Leu1138=) c.3400C>T (p.Leu1134=) c.3367C>T (p.Leu1123=) c.3310C>T (p.Leu1104=) c.3409C>T (p.Leu1137=) c.3385C>T (p.Leu1129=) c.3220C>T (p.Leu1074=) | gnomAD v4 |
| 1 | g.16986167G>C | CA338231485 | ATP13A2 | c.*54C>G (n.*54C>G) c.3295C>G (p.Leu1099Val) n.1643C>G c.1015C>G (p.Leu339Val) c.3427C>G (p.Leu1143Val) c.3424C>G (p.Leu1142Val) c.3412C>G (p.Leu1138Val) c.3400C>G (p.Leu1134Val) c.3367C>G (p.Leu1123Val) c.3310C>G (p.Leu1104Val) c.3409C>G (p.Leu1137Val) c.3385C>G (p.Leu1129Val) c.3220C>G (p.Leu1074Val) | gnomAD v4 |
| 1 | g.16986167G>T | CA338231487 | ATP13A2 | c.*54C>A (n.*54C>A) c.3295C>A (p.Leu1099Met) n.1643C>A c.1015C>A (p.Leu339Met) c.3427C>A (p.Leu1143Met) c.3424C>A (p.Leu1142Met) c.3412C>A (p.Leu1138Met) c.3400C>A (p.Leu1134Met) c.3367C>A (p.Leu1123Met) c.3310C>A (p.Leu1104Met) c.3409C>A (p.Leu1137Met) c.3385C>A (p.Leu1129Met) c.3220C>A (p.Leu1074Met) | |
| 1 | g.16986168T>A | CA338231488 | ATP13A2 | c.*53A>T (n.*53A>T) c.3294A>T (p.Gln1098His) n.1642A>T c.1014A>T (p.Gln338His) c.3426A>T (p.Gln1142His) c.3423A>T (p.Gln1141His) c.3411A>T (p.Gln1137His) c.3399A>T (p.Gln1133His) c.3366A>T (p.Gln1122His) c.3309A>T (p.Gln1103His) c.3408A>T (p.Gln1136His) c.3384A>T (p.Gln1128His) c.3219A>T (p.Gln1073His) | |
| 1 | g.16986168T>C | CA1156049008 | ATP13A2 | c.*53A>G (n.*53A>G) c.3294A>G (p.Gln1098=) n.1642A>G c.1014A>G (p.Gln338=) c.3426A>G (p.Gln1142=) c.3423A>G (p.Gln1141=) c.3411A>G (p.Gln1137=) c.3399A>G (p.Gln1133=) c.3366A>G (p.Gln1122=) c.3309A>G (p.Gln1103=) c.3408A>G (p.Gln1136=) c.3384A>G (p.Gln1128=) c.3219A>G (p.Gln1073=) | dbSNP gnomAD v4 |
| 1 | g.16986168T>G | CA338231490 | ATP13A2 | c.*53A>C (n.*53A>C) c.3294A>C (p.Gln1098His) n.1642A>C c.1014A>C (p.Gln338His) c.3426A>C (p.Gln1142His) c.3423A>C (p.Gln1141His) c.3411A>C (p.Gln1137His) c.3399A>C (p.Gln1133His) c.3366A>C (p.Gln1122His) c.3309A>C (p.Gln1103His) c.3408A>C (p.Gln1136His) c.3384A>C (p.Gln1128His) c.3219A>C (p.Gln1073His) | |
| 1 | g.16986168T= | CA1156049007 | ATP13A2 | c.*53A= (n.*53A=) c.3294A= (p.Gln1098=) n.1642A= c.1014A= (p.Gln338=) c.3426A= (p.Gln1142=) c.3423A= (p.Gln1141=) c.3411A= (p.Gln1137=) c.3399A= (p.Gln1133=) c.3366A= (p.Gln1122=) c.3309A= (p.Gln1103=) c.3408A= (p.Gln1136=) c.3384A= (p.Gln1128=) c.3219A= (p.Gln1073=) | |
| 1 | g.16986169T>A | CA338231493 | ATP13A2 | c.*52A>T (n.*52A>T) c.3293A>T (p.Gln1098Leu) n.1641A>T c.1013A>T (p.Gln338Leu) c.3425A>T (p.Gln1142Leu) c.3422A>T (p.Gln1141Leu) c.3410A>T (p.Gln1137Leu) c.3398A>T (p.Gln1133Leu) c.3365A>T (p.Gln1122Leu) c.3308A>T (p.Gln1103Leu) c.3407A>T (p.Gln1136Leu) c.3383A>T (p.Gln1128Leu) c.3218A>T (p.Gln1073Leu) | |
| 1 | g.16986169T>C | CA338231496 | ATP13A2 | c.*52A>G (n.*52A>G) c.3293A>G (p.Gln1098Arg) n.1641A>G c.1013A>G (p.Gln338Arg) c.3425A>G (p.Gln1142Arg) c.3422A>G (p.Gln1141Arg) c.3410A>G (p.Gln1137Arg) c.3398A>G (p.Gln1133Arg) c.3365A>G (p.Gln1122Arg) c.3308A>G (p.Gln1103Arg) c.3407A>G (p.Gln1136Arg) c.3383A>G (p.Gln1128Arg) c.3218A>G (p.Gln1073Arg) | dbSNP |
| 1 | g.16986169T>G | CA338231498 | ATP13A2 | c.*52A>C (n.*52A>C) c.3293A>C (p.Gln1098Pro) n.1641A>C c.1013A>C (p.Gln338Pro) c.3425A>C (p.Gln1142Pro) c.3422A>C (p.Gln1141Pro) c.3410A>C (p.Gln1137Pro) c.3398A>C (p.Gln1133Pro) c.3365A>C (p.Gln1122Pro) c.3308A>C (p.Gln1103Pro) c.3407A>C (p.Gln1136Pro) c.3383A>C (p.Gln1128Pro) c.3218A>C (p.Gln1073Pro) | gnomAD v4 |
| 1 | g.16986169T= | CA1156049011 | ATP13A2 | c.*52A= (n.*52A=) c.3293A= (p.Gln1098=) n.1641A= c.1013A= (p.Gln338=) c.3425A= (p.Gln1142=) c.3422A= (p.Gln1141=) c.3410A= (p.Gln1137=) c.3398A= (p.Gln1133=) c.3365A= (p.Gln1122=) c.3308A= (p.Gln1103=) c.3407A= (p.Gln1136=) c.3383A= (p.Gln1128=) c.3218A= (p.Gln1073=) | |
| 1 | g.16986172_16986174dup | CA1156049012 | ATP13A2 | c.*50_*52dup (n.*50_*52dup) c.3291_3293dup (p.His1097_Gln1098insHis) n.1639_1641dup c.1011_1013dup (p.His337_Gln338insHis) c.3423_3425dup (p.His1141_Gln1142insHis) c.3420_3422dup (p.His1140_Gln1141insHis) c.3408_3410dup (p.His1136_Gln1137insHis) c.3396_3398dup (p.His1132_Gln1133insHis) c.3363_3365dup (p.His1121_Gln1122insHis) c.3306_3308dup (p.His1102_Gln1103insHis) c.3405_3407dup (p.His1135_Gln1136insHis) c.3381_3383dup (p.His1127_Gln1128insHis) c.3216_3218dup (p.His1072_Gln1073insHis) | dbSNP |
| 1 | g.16986170G>A | CA338231500 | ATP13A2 | c.*51C>T (n.*51C>T) c.3292C>T (p.Gln1098Ter) n.1640C>T c.1012C>T (p.Gln338Ter) c.3424C>T (p.Gln1142Ter) c.3421C>T (p.Gln1141Ter) c.3409C>T (p.Gln1137Ter) c.3397C>T (p.Gln1133Ter) c.3364C>T (p.Gln1122Ter) c.3307C>T (p.Gln1103Ter) c.3406C>T (p.Gln1136Ter) c.3382C>T (p.Gln1128Ter) c.3217C>T (p.Gln1073Ter) | |
| 1 | g.16986170G>C | CA338231502 | ATP13A2 | c.*51C>G (n.*51C>G) c.3292C>G (p.Gln1098Glu) n.1640C>G c.1012C>G (p.Gln338Glu) c.3424C>G (p.Gln1142Glu) c.3421C>G (p.Gln1141Glu) c.3409C>G (p.Gln1137Glu) c.3397C>G (p.Gln1133Glu) c.3364C>G (p.Gln1122Glu) c.3307C>G (p.Gln1103Glu) c.3406C>G (p.Gln1136Glu) c.3382C>G (p.Gln1128Glu) c.3217C>G (p.Gln1073Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986170G= | CA1156049013 | ATP13A2 | c.*51C= (n.*51C=) c.3292C= (p.Gln1098=) n.1640C= c.1012C= (p.Gln338=) c.3424C= (p.Gln1142=) c.3421C= (p.Gln1141=) c.3409C= (p.Gln1137=) c.3397C= (p.Gln1133=) c.3364C= (p.Gln1122=) c.3307C= (p.Gln1103=) c.3406C= (p.Gln1136=) c.3382C= (p.Gln1128=) c.3217C= (p.Gln1073=) | |
| 1 | g.16986170G>T | CA338231503 | ATP13A2 | c.*51C>A (n.*51C>A) c.3292C>A (p.Gln1098Lys) n.1640C>A c.1012C>A (p.Gln338Lys) c.3424C>A (p.Gln1142Lys) c.3421C>A (p.Gln1141Lys) c.3409C>A (p.Gln1137Lys) c.3397C>A (p.Gln1133Lys) c.3364C>A (p.Gln1122Lys) c.3307C>A (p.Gln1103Lys) c.3406C>A (p.Gln1136Lys) c.3382C>A (p.Gln1128Lys) c.3217C>A (p.Gln1073Lys) | |
| 1 | g.16986171G>A | CA521449604 | ATP13A2 | c.*50C>T (n.*50C>T) c.3291C>T (p.His1097=) n.1639C>T c.1011C>T (p.His337=) c.3423C>T (p.His1141=) c.3420C>T (p.His1140=) c.3408C>T (p.His1136=) c.3396C>T (p.His1132=) c.3363C>T (p.His1121=) c.3306C>T (p.His1102=) c.3405C>T (p.His1135=) c.3381C>T (p.His1127=) c.3216C>T (p.His1072=) | dbSNP gnomAD v2 |
| 1 | g.16986171G>C | CA338231505 | ATP13A2 | c.*50C>G (n.*50C>G) c.3291C>G (p.His1097Gln) n.1639C>G c.1011C>G (p.His337Gln) c.3423C>G (p.His1141Gln) c.3420C>G (p.His1140Gln) c.3408C>G (p.His1136Gln) c.3396C>G (p.His1132Gln) c.3363C>G (p.His1121Gln) c.3306C>G (p.His1102Gln) c.3405C>G (p.His1135Gln) c.3381C>G (p.His1127Gln) c.3216C>G (p.His1072Gln) | |
| 1 | g.16986171G= | CA1156049016 | ATP13A2 | c.*50C= (n.*50C=) c.3291C= (p.His1097=) n.1639C= c.1011C= (p.His337=) c.3423C= (p.His1141=) c.3420C= (p.His1140=) c.3408C= (p.His1136=) c.3396C= (p.His1132=) c.3363C= (p.His1121=) c.3306C= (p.His1102=) c.3405C= (p.His1135=) c.3381C= (p.His1127=) c.3216C= (p.His1072=) | |
| 1 | g.16986171G>T | CA338231504 | ATP13A2 | c.*50C>A (n.*50C>A) c.3291C>A (p.His1097Gln) n.1639C>A c.1011C>A (p.His337Gln) c.3423C>A (p.His1141Gln) c.3420C>A (p.His1140Gln) c.3408C>A (p.His1136Gln) c.3396C>A (p.His1132Gln) c.3363C>A (p.His1121Gln) c.3306C>A (p.His1102Gln) c.3405C>A (p.His1135Gln) c.3381C>A (p.His1127Gln) c.3216C>A (p.His1072Gln) | gnomAD v4 |
| 1 | g.16986172T>A | CA338231506 | ATP13A2 | c.*49A>T (n.*49A>T) c.3290A>T (p.His1097Leu) n.1638A>T c.1010A>T (p.His337Leu) c.3422A>T (p.His1141Leu) c.3419A>T (p.His1140Leu) c.3407A>T (p.His1136Leu) c.3395A>T (p.His1132Leu) c.3362A>T (p.His1121Leu) c.3305A>T (p.His1102Leu) c.3404A>T (p.His1135Leu) c.3380A>T (p.His1127Leu) c.3215A>T (p.His1072Leu) | |
| 1 | g.16986172T>C | CA18624483 | ATP13A2 | c.*49A>G (n.*49A>G) c.3290A>G (p.His1097Arg) n.1638A>G c.1010A>G (p.His337Arg) c.3422A>G (p.His1141Arg) c.3419A>G (p.His1140Arg) c.3407A>G (p.His1136Arg) c.3395A>G (p.His1132Arg) c.3362A>G (p.His1121Arg) c.3305A>G (p.His1102Arg) c.3404A>G (p.His1135Arg) c.3380A>G (p.His1127Arg) c.3215A>G (p.His1072Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986172T>G | CA338231509 | ATP13A2 | c.*49A>C (n.*49A>C) c.3290A>C (p.His1097Pro) n.1638A>C c.1010A>C (p.His337Pro) c.3422A>C (p.His1141Pro) c.3419A>C (p.His1140Pro) c.3407A>C (p.His1136Pro) c.3395A>C (p.His1132Pro) c.3362A>C (p.His1121Pro) c.3305A>C (p.His1102Pro) c.3404A>C (p.His1135Pro) c.3380A>C (p.His1127Pro) c.3215A>C (p.His1072Pro) | |
| 1 | g.16986172T= | CA1147734515 | ATP13A2 | c.*49A= (n.*49A=) c.3290A= (p.His1097=) n.1638A= c.1010A= (p.His337=) c.3422A= (p.His1141=) c.3419A= (p.His1140=) c.3407A= (p.His1136=) c.3395A= (p.His1132=) c.3362A= (p.His1121=) c.3305A= (p.His1102=) c.3404A= (p.His1135=) c.3380A= (p.His1127=) c.3215A= (p.His1072=) | |
| 1 | g.16986173G>A | CA636441 | ATP13A2 | c.*48C>T (n.*48C>T) c.3289C>T (p.His1097Tyr) n.1637C>T c.1009C>T (p.His337Tyr) c.3421C>T (p.His1141Tyr) c.3418C>T (p.His1140Tyr) c.3406C>T (p.His1136Tyr) c.3394C>T (p.His1132Tyr) c.3361C>T (p.His1121Tyr) c.3304C>T (p.His1102Tyr) c.3403C>T (p.His1135Tyr) c.3379C>T (p.His1127Tyr) c.3214C>T (p.His1072Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986173G>C | CA338231519 | ATP13A2 | c.*48C>G (n.*48C>G) c.3289C>G (p.His1097Asp) n.1637C>G c.1009C>G (p.His337Asp) c.3421C>G (p.His1141Asp) c.3418C>G (p.His1140Asp) c.3406C>G (p.His1136Asp) c.3394C>G (p.His1132Asp) c.3361C>G (p.His1121Asp) c.3304C>G (p.His1102Asp) c.3403C>G (p.His1135Asp) c.3379C>G (p.His1127Asp) c.3214C>G (p.His1072Asp) | |
| 1 | g.16986173G= | CA1156049021 | ATP13A2 | c.*48C= (n.*48C=) c.3289C= (p.His1097=) n.1637C= c.1009C= (p.His337=) c.3421C= (p.His1141=) c.3418C= (p.His1140=) c.3406C= (p.His1136=) c.3394C= (p.His1132=) c.3361C= (p.His1121=) c.3304C= (p.His1102=) c.3403C= (p.His1135=) c.3379C= (p.His1127=) c.3214C= (p.His1072=) | |
| 1 | g.16986173G>T | CA338231520 | ATP13A2 | c.*48C>A (n.*48C>A) c.3289C>A (p.His1097Asn) n.1637C>A c.1009C>A (p.His337Asn) c.3421C>A (p.His1141Asn) c.3418C>A (p.His1140Asn) c.3406C>A (p.His1136Asn) c.3394C>A (p.His1132Asn) c.3361C>A (p.His1121Asn) c.3304C>A (p.His1102Asn) c.3403C>A (p.His1135Asn) c.3379C>A (p.His1127Asn) c.3214C>A (p.His1072Asn) | |
| 1 | g.16986174G>C | CA338231521 | ATP13A2 | c.*47C>G (n.*47C>G) c.3288C>G (p.Ser1096Arg) n.1636C>G c.1008C>G (p.Ser336Arg) c.3420C>G (p.Ser1140Arg) c.3417C>G (p.Ser1139Arg) c.3405C>G (p.Ser1135Arg) c.3393C>G (p.Ser1131Arg) c.3360C>G (p.Ser1120Arg) c.3303C>G (p.Ser1101Arg) c.3402C>G (p.Ser1134Arg) c.3378C>G (p.Ser1126Arg) c.3213C>G (p.Ser1071Arg) | |
| 1 | g.16986174G>T | CA338231522 | ATP13A2 | c.*47C>A (n.*47C>A) c.3288C>A (p.Ser1096Arg) n.1636C>A c.1008C>A (p.Ser336Arg) c.3420C>A (p.Ser1140Arg) c.3417C>A (p.Ser1139Arg) c.3405C>A (p.Ser1135Arg) c.3393C>A (p.Ser1131Arg) c.3360C>A (p.Ser1120Arg) c.3303C>A (p.Ser1101Arg) c.3402C>A (p.Ser1134Arg) c.3378C>A (p.Ser1126Arg) c.3213C>A (p.Ser1071Arg) | |
| 1 | g.16986175C>A | CA338231525 | ATP13A2 | c.*46G>T (n.*46G>T) c.3287G>T (p.Ser1096Ile) n.1635G>T c.1007G>T (p.Ser336Ile) c.3419G>T (p.Ser1140Ile) c.3416G>T (p.Ser1139Ile) c.3404G>T (p.Ser1135Ile) c.3392G>T (p.Ser1131Ile) c.3359G>T (p.Ser1120Ile) c.3302G>T (p.Ser1101Ile) c.3401G>T (p.Ser1134Ile) c.3377G>T (p.Ser1126Ile) c.3212G>T (p.Ser1071Ile) | gnomAD v4 |
| 1 | g.16986175C= | CA1156049022 | ATP13A2 | c.*46G= (n.*46G=) c.3287G= (p.Ser1096=) n.1635G= c.1007G= (p.Ser336=) c.3419G= (p.Ser1140=) c.3416G= (p.Ser1139=) c.3404G= (p.Ser1135=) c.3392G= (p.Ser1131=) c.3359G= (p.Ser1120=) c.3302G= (p.Ser1101=) c.3401G= (p.Ser1134=) c.3377G= (p.Ser1126=) c.3212G= (p.Ser1071=) | |
| 1 | g.16986175C>G | CA338231533 | ATP13A2 | c.*46G>C (n.*46G>C) c.3287G>C (p.Ser1096Thr) n.1635G>C c.1007G>C (p.Ser336Thr) c.3419G>C (p.Ser1140Thr) c.3416G>C (p.Ser1139Thr) c.3404G>C (p.Ser1135Thr) c.3392G>C (p.Ser1131Thr) c.3359G>C (p.Ser1120Thr) c.3302G>C (p.Ser1101Thr) c.3401G>C (p.Ser1134Thr) c.3377G>C (p.Ser1126Thr) c.3212G>C (p.Ser1071Thr) | |
| 1 | g.16986175C>T | CA338231535 | ATP13A2 | c.*46G>A (n.*46G>A) c.3287G>A (p.Ser1096Asn) n.1635G>A c.1007G>A (p.Ser336Asn) c.3419G>A (p.Ser1140Asn) c.3416G>A (p.Ser1139Asn) c.3404G>A (p.Ser1135Asn) c.3392G>A (p.Ser1131Asn) c.3359G>A (p.Ser1120Asn) c.3302G>A (p.Ser1101Asn) c.3401G>A (p.Ser1134Asn) c.3377G>A (p.Ser1126Asn) c.3212G>A (p.Ser1071Asn) | dbSNP gnomAD v4 |
| 1 | g.16986176T>A | CA338231538 | ATP13A2 | c.*45A>T (n.*45A>T) c.3286A>T (p.Ser1096Cys) n.1634A>T c.1006A>T (p.Ser336Cys) c.3418A>T (p.Ser1140Cys) c.3415A>T (p.Ser1139Cys) c.3403A>T (p.Ser1135Cys) c.3391A>T (p.Ser1131Cys) c.3358A>T (p.Ser1120Cys) c.3301A>T (p.Ser1101Cys) c.3400A>T (p.Ser1134Cys) c.3376A>T (p.Ser1126Cys) c.3211A>T (p.Ser1071Cys) | |
| 1 | g.16986176T>C | CA338231540 | ATP13A2 | c.*45A>G (n.*45A>G) c.3286A>G (p.Ser1096Gly) n.1634A>G c.1006A>G (p.Ser336Gly) c.3418A>G (p.Ser1140Gly) c.3415A>G (p.Ser1139Gly) c.3403A>G (p.Ser1135Gly) c.3391A>G (p.Ser1131Gly) c.3358A>G (p.Ser1120Gly) c.3301A>G (p.Ser1101Gly) c.3400A>G (p.Ser1134Gly) c.3376A>G (p.Ser1126Gly) c.3211A>G (p.Ser1071Gly) | |
| 1 | g.16986176T>G | CA338231555 | ATP13A2 | c.*45A>C (n.*45A>C) c.3286A>C (p.Ser1096Arg) n.1634A>C c.1006A>C (p.Ser336Arg) c.3418A>C (p.Ser1140Arg) c.3415A>C (p.Ser1139Arg) c.3403A>C (p.Ser1135Arg) c.3391A>C (p.Ser1131Arg) c.3358A>C (p.Ser1120Arg) c.3301A>C (p.Ser1101Arg) c.3400A>C (p.Ser1134Arg) c.3376A>C (p.Ser1126Arg) c.3211A>C (p.Ser1071Arg) | |
| 1 | g.16986178A>C | CA338231562 | ATP13A2 | c.*43T>G (n.*43T>G) c.3284T>G (p.Leu1095Arg) n.1632T>G c.1004T>G (p.Leu335Arg) c.3416T>G (p.Leu1139Arg) c.3413T>G (p.Leu1138Arg) c.3401T>G (p.Leu1134Arg) c.3389T>G (p.Leu1130Arg) c.3356T>G (p.Leu1119Arg) c.3299T>G (p.Leu1100Arg) c.3398T>G (p.Leu1133Arg) c.3374T>G (p.Leu1125Arg) c.3209T>G (p.Leu1070Arg) | |
| 1 | g.16986178A>G | CA338231565 | ATP13A2 | c.*43T>C (n.*43T>C) c.3284T>C (p.Leu1095Pro) n.1632T>C c.1004T>C (p.Leu335Pro) c.3416T>C (p.Leu1139Pro) c.3413T>C (p.Leu1138Pro) c.3401T>C (p.Leu1134Pro) c.3389T>C (p.Leu1130Pro) c.3356T>C (p.Leu1119Pro) c.3299T>C (p.Leu1100Pro) c.3398T>C (p.Leu1133Pro) c.3374T>C (p.Leu1125Pro) c.3209T>C (p.Leu1070Pro) | gnomAD v4 |
| 1 | g.16986178A>T | CA338231558 | ATP13A2 | c.*43T>A (n.*43T>A) c.3284T>A (p.Leu1095Gln) n.1632T>A c.1004T>A (p.Leu335Gln) c.3416T>A (p.Leu1139Gln) c.3413T>A (p.Leu1138Gln) c.3401T>A (p.Leu1134Gln) c.3389T>A (p.Leu1130Gln) c.3356T>A (p.Leu1119Gln) c.3299T>A (p.Leu1100Gln) c.3398T>A (p.Leu1133Gln) c.3374T>A (p.Leu1125Gln) c.3209T>A (p.Leu1070Gln) | |
| 1 | g.16986179G>A | CA18624494 | ATP13A2 | c.*42C>T (n.*42C>T) c.3283C>T (p.Leu1095=) n.1631C>T c.1003C>T (p.Leu335=) c.3415C>T (p.Leu1139=) c.3412C>T (p.Leu1138=) c.3400C>T (p.Leu1134=) c.3388C>T (p.Leu1130=) c.3355C>T (p.Leu1119=) c.3298C>T (p.Leu1100=) c.3397C>T (p.Leu1133=) c.3373C>T (p.Leu1125=) c.3208C>T (p.Leu1070=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986179G>C | CA338231574 | ATP13A2 | c.*42C>G (n.*42C>G) c.3283C>G (p.Leu1095Val) n.1631C>G c.1003C>G (p.Leu335Val) c.3415C>G (p.Leu1139Val) c.3412C>G (p.Leu1138Val) c.3400C>G (p.Leu1134Val) c.3388C>G (p.Leu1130Val) c.3355C>G (p.Leu1119Val) c.3298C>G (p.Leu1100Val) c.3397C>G (p.Leu1133Val) c.3373C>G (p.Leu1125Val) c.3208C>G (p.Leu1070Val) | |
| 1 | g.16986179G= | CA1139849804 | ATP13A2 | c.*42C= (n.*42C=) c.3283C= (p.Leu1095=) n.1631C= c.1003C= (p.Leu335=) c.3415C= (p.Leu1139=) c.3412C= (p.Leu1138=) c.3400C= (p.Leu1134=) c.3388C= (p.Leu1130=) c.3355C= (p.Leu1119=) c.3298C= (p.Leu1100=) c.3397C= (p.Leu1133=) c.3373C= (p.Leu1125=) c.3208C= (p.Leu1070=) | |
| 1 | g.16986179G>T | CA338231572 | ATP13A2 | c.*42C>A (n.*42C>A) c.3283C>A (p.Leu1095Met) n.1631C>A c.1003C>A (p.Leu335Met) c.3415C>A (p.Leu1139Met) c.3412C>A (p.Leu1138Met) c.3400C>A (p.Leu1134Met) c.3388C>A (p.Leu1130Met) c.3355C>A (p.Leu1119Met) c.3298C>A (p.Leu1100Met) c.3397C>A (p.Leu1133Met) c.3373C>A (p.Leu1125Met) c.3208C>A (p.Leu1070Met) | |
| 1 | g.16986180A= | CA1143843060 | ATP13A2 | c.*41T= (n.*41T=) c.3282T= (p.Pro1094=) n.1630T= c.1002T= (p.Pro334=) c.3414T= (p.Pro1138=) c.3411T= (p.Pro1137=) c.3399T= (p.Pro1133=) c.3387T= (p.Pro1129=) c.3354T= (p.Pro1118=) c.3297T= (p.Pro1099=) c.3396T= (p.Pro1132=) c.3372T= (p.Pro1124=) c.3207T= (p.Pro1069=) | |
| 1 | g.16986180A>G | CA636442 | ATP13A2 | c.*41T>C (n.*41T>C) c.3282T>C (p.Pro1094=) n.1630T>C c.1002T>C (p.Pro334=) c.3414T>C (p.Pro1138=) c.3411T>C (p.Pro1137=) c.3399T>C (p.Pro1133=) c.3387T>C (p.Pro1129=) c.3354T>C (p.Pro1118=) c.3297T>C (p.Pro1099=) c.3396T>C (p.Pro1132=) c.3372T>C (p.Pro1124=) c.3207T>C (p.Pro1069=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986181G>A | CA338231583 | ATP13A2 | c.*40C>T (n.*40C>T) c.3281C>T (p.Pro1094Leu) n.1629C>T c.1001C>T (p.Pro334Leu) c.3413C>T (p.Pro1138Leu) c.3410C>T (p.Pro1137Leu) c.3398C>T (p.Pro1133Leu) c.3386C>T (p.Pro1129Leu) c.3353C>T (p.Pro1118Leu) c.3296C>T (p.Pro1099Leu) c.3395C>T (p.Pro1132Leu) c.3371C>T (p.Pro1124Leu) c.3206C>T (p.Pro1069Leu) | gnomAD v4 |
| 1 | g.16986181G>C | CA338231586 | ATP13A2 | c.*40C>G (n.*40C>G) c.3281C>G (p.Pro1094Arg) n.1629C>G c.1001C>G (p.Pro334Arg) c.3413C>G (p.Pro1138Arg) c.3410C>G (p.Pro1137Arg) c.3398C>G (p.Pro1133Arg) c.3386C>G (p.Pro1129Arg) c.3353C>G (p.Pro1118Arg) c.3296C>G (p.Pro1099Arg) c.3395C>G (p.Pro1132Arg) c.3371C>G (p.Pro1124Arg) c.3206C>G (p.Pro1069Arg) | |
| 1 | g.16986181G>T | CA338231589 | ATP13A2 | c.*40C>A (n.*40C>A) c.3281C>A (p.Pro1094His) n.1629C>A c.1001C>A (p.Pro334His) c.3413C>A (p.Pro1138His) c.3410C>A (p.Pro1137His) c.3398C>A (p.Pro1133His) c.3386C>A (p.Pro1129His) c.3353C>A (p.Pro1118His) c.3296C>A (p.Pro1099His) c.3395C>A (p.Pro1132His) c.3371C>A (p.Pro1124His) c.3206C>A (p.Pro1069His) | |
| 1 | g.16986182G>A | CA18624501 | ATP13A2 | c.*39C>T (n.*39C>T) c.3280C>T (p.Pro1094Ser) n.1628C>T c.1000C>T (p.Pro334Ser) c.3412C>T (p.Pro1138Ser) c.3409C>T (p.Pro1137Ser) c.3397C>T (p.Pro1133Ser) c.3385C>T (p.Pro1129Ser) c.3352C>T (p.Pro1118Ser) c.3295C>T (p.Pro1099Ser) c.3394C>T (p.Pro1132Ser) c.3370C>T (p.Pro1124Ser) c.3205C>T (p.Pro1069Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986182G>C | CA338231593 | ATP13A2 | c.*39C>G (n.*39C>G) c.3280C>G (p.Pro1094Ala) n.1628C>G c.1000C>G (p.Pro334Ala) c.3412C>G (p.Pro1138Ala) c.3409C>G (p.Pro1137Ala) c.3397C>G (p.Pro1133Ala) c.3385C>G (p.Pro1129Ala) c.3352C>G (p.Pro1118Ala) c.3295C>G (p.Pro1099Ala) c.3394C>G (p.Pro1132Ala) c.3370C>G (p.Pro1124Ala) c.3205C>G (p.Pro1069Ala) | |
| 1 | g.16986182G= | CA1156049029 | ATP13A2 | c.*39C= (n.*39C=) c.3280C= (p.Pro1094=) n.1628C= c.1000C= (p.Pro334=) c.3412C= (p.Pro1138=) c.3409C= (p.Pro1137=) c.3397C= (p.Pro1133=) c.3385C= (p.Pro1129=) c.3352C= (p.Pro1118=) c.3295C= (p.Pro1099=) c.3394C= (p.Pro1132=) c.3370C= (p.Pro1124=) c.3205C= (p.Pro1069=) | |
| 1 | g.16986182G>T | CA338231596 | ATP13A2 | c.*39C>A (n.*39C>A) c.3280C>A (p.Pro1094Thr) n.1628C>A c.1000C>A (p.Pro334Thr) c.3412C>A (p.Pro1138Thr) c.3409C>A (p.Pro1137Thr) c.3397C>A (p.Pro1133Thr) c.3385C>A (p.Pro1129Thr) c.3352C>A (p.Pro1118Thr) c.3295C>A (p.Pro1099Thr) c.3394C>A (p.Pro1132Thr) c.3370C>A (p.Pro1124Thr) c.3205C>A (p.Pro1069Thr) | |
| 1 | g.16986183C= | CA1156049032 | ATP13A2 | c.*38G= (n.*38G=) c.3279G= (p.Leu1093=) n.1627G= c.999G= (p.Leu333=) c.3411G= (p.Leu1137=) c.3408G= (p.Leu1136=) c.3396G= (p.Leu1132=) c.3384G= (p.Leu1128=) c.3351G= (p.Leu1117=) c.3294G= (p.Leu1098=) c.3393G= (p.Leu1131=) c.3369G= (p.Leu1123=) c.3204G= (p.Leu1068=) | |
| 1 | g.16986183C>T | CA636443 | ATP13A2 | c.*38G>A (n.*38G>A) c.3279G>A (p.Leu1093=) n.1627G>A c.999G>A (p.Leu333=) c.3411G>A (p.Leu1137=) c.3408G>A (p.Leu1136=) c.3396G>A (p.Leu1132=) c.3384G>A (p.Leu1128=) c.3351G>A (p.Leu1117=) c.3294G>A (p.Leu1098=) c.3393G>A (p.Leu1131=) c.3369G>A (p.Leu1123=) c.3204G>A (p.Leu1068=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986184A>C | CA338231602 | ATP13A2 | c.*37T>G (n.*37T>G) c.3278T>G (p.Leu1093Arg) n.1626T>G c.998T>G (p.Leu333Arg) c.3410T>G (p.Leu1137Arg) c.3407T>G (p.Leu1136Arg) c.3395T>G (p.Leu1132Arg) c.3383T>G (p.Leu1128Arg) c.3350T>G (p.Leu1117Arg) c.3293T>G (p.Leu1098Arg) c.3392T>G (p.Leu1131Arg) c.3368T>G (p.Leu1123Arg) c.3203T>G (p.Leu1068Arg) | |
| 1 | g.16986184A>G | CA338231604 | ATP13A2 | c.*37T>C (n.*37T>C) c.3278T>C (p.Leu1093Pro) n.1626T>C c.998T>C (p.Leu333Pro) c.3410T>C (p.Leu1137Pro) c.3407T>C (p.Leu1136Pro) c.3395T>C (p.Leu1132Pro) c.3383T>C (p.Leu1128Pro) c.3350T>C (p.Leu1117Pro) c.3293T>C (p.Leu1098Pro) c.3392T>C (p.Leu1131Pro) c.3368T>C (p.Leu1123Pro) c.3203T>C (p.Leu1068Pro) | gnomAD v4 |
| 1 | g.16986184A>T | CA338231605 | ATP13A2 | c.*37T>A (n.*37T>A) c.3278T>A (p.Leu1093Gln) n.1626T>A c.998T>A (p.Leu333Gln) c.3410T>A (p.Leu1137Gln) c.3407T>A (p.Leu1136Gln) c.3395T>A (p.Leu1132Gln) c.3383T>A (p.Leu1128Gln) c.3350T>A (p.Leu1117Gln) c.3293T>A (p.Leu1098Gln) c.3392T>A (p.Leu1131Gln) c.3368T>A (p.Leu1123Gln) c.3203T>A (p.Leu1068Gln) | |
| 1 | g.16986185G>A | CA636444 | ATP13A2 | c.*36C>T (n.*36C>T) c.3277C>T (p.Leu1093=) n.1625C>T c.997C>T (p.Leu333=) c.3409C>T (p.Leu1137=) c.3406C>T (p.Leu1136=) c.3394C>T (p.Leu1132=) c.3382C>T (p.Leu1128=) c.3349C>T (p.Leu1117=) c.3292C>T (p.Leu1098=) c.3391C>T (p.Leu1131=) c.3367C>T (p.Leu1123=) c.3202C>T (p.Leu1068=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986185G>C | CA338231616 | ATP13A2 | c.*36C>G (n.*36C>G) c.3277C>G (p.Leu1093Val) n.1625C>G c.997C>G (p.Leu333Val) c.3409C>G (p.Leu1137Val) c.3406C>G (p.Leu1136Val) c.3394C>G (p.Leu1132Val) c.3382C>G (p.Leu1128Val) c.3349C>G (p.Leu1117Val) c.3292C>G (p.Leu1098Val) c.3391C>G (p.Leu1131Val) c.3367C>G (p.Leu1123Val) c.3202C>G (p.Leu1068Val) | |
| 1 | g.16986185G= | CA1156049079 | ATP13A2 | c.*36C= (n.*36C=) c.3277C= (p.Leu1093=) n.1625C= c.997C= (p.Leu333=) c.3409C= (p.Leu1137=) c.3406C= (p.Leu1136=) c.3394C= (p.Leu1132=) c.3382C= (p.Leu1128=) c.3349C= (p.Leu1117=) c.3292C= (p.Leu1098=) c.3391C= (p.Leu1131=) c.3367C= (p.Leu1123=) c.3202C= (p.Leu1068=) | |
| 1 | g.16986185G>T | CA338231608 | ATP13A2 | c.*36C>A (n.*36C>A) c.3277C>A (p.Leu1093Met) n.1625C>A c.997C>A (p.Leu333Met) c.3409C>A (p.Leu1137Met) c.3406C>A (p.Leu1136Met) c.3394C>A (p.Leu1132Met) c.3382C>A (p.Leu1128Met) c.3349C>A (p.Leu1117Met) c.3292C>A (p.Leu1098Met) c.3391C>A (p.Leu1131Met) c.3367C>A (p.Leu1123Met) c.3202C>A (p.Leu1068Met) | |
| 1 | g.16986187G>A | CA338231627 | ATP13A2 | c.*34C>T (n.*34C>T) c.3275C>T (p.Ser1092Phe) n.1623C>T c.995C>T (p.Ser332Phe) c.3407C>T (p.Ser1136Phe) c.3404C>T (p.Ser1135Phe) c.3392C>T (p.Ser1131Phe) c.3380C>T (p.Ser1127Phe) c.3347C>T (p.Ser1116Phe) c.3290C>T (p.Ser1097Phe) c.3389C>T (p.Ser1130Phe) c.3365C>T (p.Ser1122Phe) c.3200C>T (p.Ser1067Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16986187G>C | CA338231629 | ATP13A2 | c.*34C>G (n.*34C>G) c.3275C>G (p.Ser1092Cys) n.1623C>G c.995C>G (p.Ser332Cys) c.3407C>G (p.Ser1136Cys) c.3404C>G (p.Ser1135Cys) c.3392C>G (p.Ser1131Cys) c.3380C>G (p.Ser1127Cys) c.3347C>G (p.Ser1116Cys) c.3290C>G (p.Ser1097Cys) c.3389C>G (p.Ser1130Cys) c.3365C>G (p.Ser1122Cys) c.3200C>G (p.Ser1067Cys) | gnomAD v4 |
| 1 | g.16986187G= | CA1156049095 | ATP13A2 | c.*34C= (n.*34C=) c.3275C= (p.Ser1092=) n.1623C= c.995C= (p.Ser332=) c.3407C= (p.Ser1136=) c.3404C= (p.Ser1135=) c.3392C= (p.Ser1131=) c.3380C= (p.Ser1127=) c.3347C= (p.Ser1116=) c.3290C= (p.Ser1097=) c.3389C= (p.Ser1130=) c.3365C= (p.Ser1122=) c.3200C= (p.Ser1067=) | |
| 1 | g.16986187G>T | CA338231632 | ATP13A2 | c.*34C>A (n.*34C>A) c.3275C>A (p.Ser1092Tyr) n.1623C>A c.995C>A (p.Ser332Tyr) c.3407C>A (p.Ser1136Tyr) c.3404C>A (p.Ser1135Tyr) c.3392C>A (p.Ser1131Tyr) c.3380C>A (p.Ser1127Tyr) c.3347C>A (p.Ser1116Tyr) c.3290C>A (p.Ser1097Tyr) c.3389C>A (p.Ser1130Tyr) c.3365C>A (p.Ser1122Tyr) c.3200C>A (p.Ser1067Tyr) | |
| 1 | g.16986188A= | CA1156049099 | ATP13A2 | c.*33T= (n.*33T=) c.3274T= (p.Ser1092=) n.1622T= c.994T= (p.Ser332=) c.3406T= (p.Ser1136=) c.3403T= (p.Ser1135=) c.3391T= (p.Ser1131=) c.3379T= (p.Ser1127=) c.3346T= (p.Ser1116=) c.3289T= (p.Ser1097=) c.3388T= (p.Ser1130=) c.3364T= (p.Ser1122=) c.3199T= (p.Ser1067=) | |
| 1 | g.16986188A>C | CA636445 | ATP13A2 | c.*33T>G (n.*33T>G) c.3274T>G (p.Ser1092Ala) n.1622T>G c.994T>G (p.Ser332Ala) c.3406T>G (p.Ser1136Ala) c.3403T>G (p.Ser1135Ala) c.3391T>G (p.Ser1131Ala) c.3379T>G (p.Ser1127Ala) c.3346T>G (p.Ser1116Ala) c.3289T>G (p.Ser1097Ala) c.3388T>G (p.Ser1130Ala) c.3364T>G (p.Ser1122Ala) c.3199T>G (p.Ser1067Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986188A>G | CA338231647 | ATP13A2 | c.*33T>C (n.*33T>C) c.3274T>C (p.Ser1092Pro) n.1622T>C c.994T>C (p.Ser332Pro) c.3406T>C (p.Ser1136Pro) c.3403T>C (p.Ser1135Pro) c.3391T>C (p.Ser1131Pro) c.3379T>C (p.Ser1127Pro) c.3346T>C (p.Ser1116Pro) c.3289T>C (p.Ser1097Pro) c.3388T>C (p.Ser1130Pro) c.3364T>C (p.Ser1122Pro) c.3199T>C (p.Ser1067Pro) | gnomAD v4 |
| 1 | g.16986188A>T | CA338231650 | ATP13A2 | c.*33T>A (n.*33T>A) c.3274T>A (p.Ser1092Thr) n.1622T>A c.994T>A (p.Ser332Thr) c.3406T>A (p.Ser1136Thr) c.3403T>A (p.Ser1135Thr) c.3391T>A (p.Ser1131Thr) c.3379T>A (p.Ser1127Thr) c.3346T>A (p.Ser1116Thr) c.3289T>A (p.Ser1097Thr) c.3388T>A (p.Ser1130Thr) c.3364T>A (p.Ser1122Thr) c.3199T>A (p.Ser1067Thr) | |
| 1 | g.16986189G>A | CA2643668060 | ATP13A2 | c.*32C>T (n.*32C>T) c.3273C>T (p.Asn1091=) n.1621C>T c.993C>T (p.Asn331=) c.3405C>T (p.Asn1135=) c.3402C>T (p.Asn1134=) c.3390C>T (p.Asn1130=) c.3378C>T (p.Asn1126=) c.3345C>T (p.Asn1115=) c.3288C>T (p.Asn1096=) c.3387C>T (p.Asn1129=) c.3363C>T (p.Asn1121=) c.3198C>T (p.Asn1066=) | gnomAD v4 |
| 1 | g.16986189G>C | CA338231653 | ATP13A2 | c.*32C>G (n.*32C>G) c.3273C>G (p.Asn1091Lys) n.1621C>G c.993C>G (p.Asn331Lys) c.3405C>G (p.Asn1135Lys) c.3402C>G (p.Asn1134Lys) c.3390C>G (p.Asn1130Lys) c.3378C>G (p.Asn1126Lys) c.3345C>G (p.Asn1115Lys) c.3288C>G (p.Asn1096Lys) c.3387C>G (p.Asn1129Lys) c.3363C>G (p.Asn1121Lys) c.3198C>G (p.Asn1066Lys) | |
| 1 | g.16986189G>T | CA338231654 | ATP13A2 | c.*32C>A (n.*32C>A) c.3273C>A (p.Asn1091Lys) n.1621C>A c.993C>A (p.Asn331Lys) c.3405C>A (p.Asn1135Lys) c.3402C>A (p.Asn1134Lys) c.3390C>A (p.Asn1130Lys) c.3378C>A (p.Asn1126Lys) c.3345C>A (p.Asn1115Lys) c.3288C>A (p.Asn1096Lys) c.3387C>A (p.Asn1129Lys) c.3363C>A (p.Asn1121Lys) c.3198C>A (p.Asn1066Lys) | |
| 1 | g.16986190T>A | CA338231655 | ATP13A2 | c.*31A>T (n.*31A>T) c.3272A>T (p.Asn1091Ile) n.1620A>T c.992A>T (p.Asn331Ile) c.3404A>T (p.Asn1135Ile) c.3401A>T (p.Asn1134Ile) c.3389A>T (p.Asn1130Ile) c.3377A>T (p.Asn1126Ile) c.3344A>T (p.Asn1115Ile) c.3287A>T (p.Asn1096Ile) c.3386A>T (p.Asn1129Ile) c.3362A>T (p.Asn1121Ile) c.3197A>T (p.Asn1066Ile) | |
| 1 | g.16986190T>C | CA636446 | ATP13A2 | c.*31A>G (n.*31A>G) c.3272A>G (p.Asn1091Ser) n.1620A>G c.992A>G (p.Asn331Ser) c.3404A>G (p.Asn1135Ser) c.3401A>G (p.Asn1134Ser) c.3389A>G (p.Asn1130Ser) c.3377A>G (p.Asn1126Ser) c.3344A>G (p.Asn1115Ser) c.3287A>G (p.Asn1096Ser) c.3386A>G (p.Asn1129Ser) c.3362A>G (p.Asn1121Ser) c.3197A>G (p.Asn1066Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986190T>G | CA338231656 | ATP13A2 | c.*31A>C (n.*31A>C) c.3272A>C (p.Asn1091Thr) n.1620A>C c.992A>C (p.Asn331Thr) c.3404A>C (p.Asn1135Thr) c.3401A>C (p.Asn1134Thr) c.3389A>C (p.Asn1130Thr) c.3377A>C (p.Asn1126Thr) c.3344A>C (p.Asn1115Thr) c.3287A>C (p.Asn1096Thr) c.3386A>C (p.Asn1129Thr) c.3362A>C (p.Asn1121Thr) c.3197A>C (p.Asn1066Thr) | |
| 1 | g.16986190T= | CA1156049109 | ATP13A2 | c.*31A= (n.*31A=) c.3272A= (p.Asn1091=) n.1620A= c.992A= (p.Asn331=) c.3404A= (p.Asn1135=) c.3401A= (p.Asn1134=) c.3389A= (p.Asn1130=) c.3377A= (p.Asn1126=) c.3344A= (p.Asn1115=) c.3287A= (p.Asn1096=) c.3386A= (p.Asn1129=) c.3362A= (p.Asn1121=) c.3197A= (p.Asn1066=) | |
| 1 | g.16986191T>A | CA338231667 | ATP13A2 | c.*30A>T (n.*30A>T) c.3271A>T (p.Asn1091Tyr) n.1619A>T c.991A>T (p.Asn331Tyr) c.3403A>T (p.Asn1135Tyr) c.3400A>T (p.Asn1134Tyr) c.3388A>T (p.Asn1130Tyr) c.3376A>T (p.Asn1126Tyr) c.3343A>T (p.Asn1115Tyr) c.3286A>T (p.Asn1096Tyr) c.3385A>T (p.Asn1129Tyr) c.3361A>T (p.Asn1121Tyr) c.3196A>T (p.Asn1066Tyr) | |
| 1 | g.16986191T>C | CA338231665 | ATP13A2 | c.*30A>G (n.*30A>G) c.3271A>G (p.Asn1091Asp) n.1619A>G c.991A>G (p.Asn331Asp) c.3403A>G (p.Asn1135Asp) c.3400A>G (p.Asn1134Asp) c.3388A>G (p.Asn1130Asp) c.3376A>G (p.Asn1126Asp) c.3343A>G (p.Asn1115Asp) c.3286A>G (p.Asn1096Asp) c.3385A>G (p.Asn1129Asp) c.3361A>G (p.Asn1121Asp) c.3196A>G (p.Asn1066Asp) | |
| 1 | g.16986191T>G | CA338231659 | ATP13A2 | c.*30A>C (n.*30A>C) c.3271A>C (p.Asn1091His) n.1619A>C c.991A>C (p.Asn331His) c.3403A>C (p.Asn1135His) c.3400A>C (p.Asn1134His) c.3388A>C (p.Asn1130His) c.3376A>C (p.Asn1126His) c.3343A>C (p.Asn1115His) c.3286A>C (p.Asn1096His) c.3385A>C (p.Asn1129His) c.3361A>C (p.Asn1121His) c.3196A>C (p.Asn1066His) | |
| 1 | g.16986192C>A | CA338231670 | ATP13A2 | c.*29G>T (n.*29G>T) c.3270G>T (p.Trp1090Cys) n.1618G>T c.990G>T (p.Trp330Cys) c.3402G>T (p.Trp1134Cys) c.3399G>T (p.Trp1133Cys) c.3387G>T (p.Trp1129Cys) c.3375G>T (p.Trp1125Cys) c.3342G>T (p.Trp1114Cys) c.3285G>T (p.Trp1095Cys) c.3384G>T (p.Trp1128Cys) c.3360G>T (p.Trp1120Cys) c.3195G>T (p.Trp1065Cys) | |
| 1 | g.16986192C>G | CA338231671 | ATP13A2 | c.*29G>C (n.*29G>C) c.3270G>C (p.Trp1090Cys) n.1618G>C c.990G>C (p.Trp330Cys) c.3402G>C (p.Trp1134Cys) c.3399G>C (p.Trp1133Cys) c.3387G>C (p.Trp1129Cys) c.3375G>C (p.Trp1125Cys) c.3342G>C (p.Trp1114Cys) c.3285G>C (p.Trp1095Cys) c.3384G>C (p.Trp1128Cys) c.3360G>C (p.Trp1120Cys) c.3195G>C (p.Trp1065Cys) | |
| 1 | g.16986192C>T | CA338231672 | ATP13A2 | c.*29G>A (n.*29G>A) c.3270G>A (p.Trp1090Ter) n.1618G>A c.990G>A (p.Trp330Ter) c.3402G>A (p.Trp1134Ter) c.3399G>A (p.Trp1133Ter) c.3387G>A (p.Trp1129Ter) c.3375G>A (p.Trp1125Ter) c.3342G>A (p.Trp1114Ter) c.3285G>A (p.Trp1095Ter) c.3384G>A (p.Trp1128Ter) c.3360G>A (p.Trp1120Ter) c.3195G>A (p.Trp1065Ter) | gnomAD v4 |
| 1 | g.16986193C>A | CA636447 | ATP13A2 | c.*28G>T (n.*28G>T) c.3269G>T (p.Trp1090Leu) n.1617G>T c.989G>T (p.Trp330Leu) c.3401G>T (p.Trp1134Leu) c.3398G>T (p.Trp1133Leu) c.3386G>T (p.Trp1129Leu) c.3374G>T (p.Trp1125Leu) c.3341G>T (p.Trp1114Leu) c.3284G>T (p.Trp1095Leu) c.3383G>T (p.Trp1128Leu) c.3359G>T (p.Trp1120Leu) c.3194G>T (p.Trp1065Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986193C= | CA1148423821 | ATP13A2 | c.*28G= (n.*28G=) c.3269G= (p.Trp1090=) n.1617G= c.989G= (p.Trp330=) c.3401G= (p.Trp1134=) c.3398G= (p.Trp1133=) c.3386G= (p.Trp1129=) c.3374G= (p.Trp1125=) c.3341G= (p.Trp1114=) c.3284G= (p.Trp1095=) c.3383G= (p.Trp1128=) c.3359G= (p.Trp1120=) c.3194G= (p.Trp1065=) | |
| 1 | g.16986193C>G | CA338231673 | ATP13A2 | c.*28G>C (n.*28G>C) c.3269G>C (p.Trp1090Ser) n.1617G>C c.989G>C (p.Trp330Ser) c.3401G>C (p.Trp1134Ser) c.3398G>C (p.Trp1133Ser) c.3386G>C (p.Trp1129Ser) c.3374G>C (p.Trp1125Ser) c.3341G>C (p.Trp1114Ser) c.3284G>C (p.Trp1095Ser) c.3383G>C (p.Trp1128Ser) c.3359G>C (p.Trp1120Ser) c.3194G>C (p.Trp1065Ser) | |
| 1 | g.16986193C>T | CA338231674 | ATP13A2 | c.*28G>A (n.*28G>A) c.3269G>A (p.Trp1090Ter) n.1617G>A c.989G>A (p.Trp330Ter) c.3401G>A (p.Trp1134Ter) c.3398G>A (p.Trp1133Ter) c.3386G>A (p.Trp1129Ter) c.3374G>A (p.Trp1125Ter) c.3341G>A (p.Trp1114Ter) c.3284G>A (p.Trp1095Ter) c.3383G>A (p.Trp1128Ter) c.3359G>A (p.Trp1120Ter) c.3194G>A (p.Trp1065Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986194A>C | CA338231681 | ATP13A2 | c.*27T>G (n.*27T>G) c.3268T>G (p.Trp1090Gly) n.1616T>G c.988T>G (p.Trp330Gly) c.3400T>G (p.Trp1134Gly) c.3397T>G (p.Trp1133Gly) c.3385T>G (p.Trp1129Gly) c.3373T>G (p.Trp1125Gly) c.3340T>G (p.Trp1114Gly) c.3283T>G (p.Trp1095Gly) c.3382T>G (p.Trp1128Gly) c.3358T>G (p.Trp1120Gly) c.3193T>G (p.Trp1065Gly) | |
| 1 | g.16986194A>G | CA338231677 | ATP13A2 | c.*27T>C (n.*27T>C) c.3268T>C (p.Trp1090Arg) n.1616T>C c.988T>C (p.Trp330Arg) c.3400T>C (p.Trp1134Arg) c.3397T>C (p.Trp1133Arg) c.3385T>C (p.Trp1129Arg) c.3373T>C (p.Trp1125Arg) c.3340T>C (p.Trp1114Arg) c.3283T>C (p.Trp1095Arg) c.3382T>C (p.Trp1128Arg) c.3358T>C (p.Trp1120Arg) c.3193T>C (p.Trp1065Arg) | |
| 1 | g.16986194A>T | CA338231679 | ATP13A2 | c.*27T>A (n.*27T>A) c.3268T>A (p.Trp1090Arg) n.1616T>A c.988T>A (p.Trp330Arg) c.3400T>A (p.Trp1134Arg) c.3397T>A (p.Trp1133Arg) c.3385T>A (p.Trp1129Arg) c.3373T>A (p.Trp1125Arg) c.3340T>A (p.Trp1114Arg) c.3283T>A (p.Trp1095Arg) c.3382T>A (p.Trp1128Arg) c.3358T>A (p.Trp1120Arg) c.3193T>A (p.Trp1065Arg) | |
| 1 | g.16986195G>C | CA338231685 | ATP13A2 | c.*26C>G (n.*26C>G) c.3267C>G (p.His1089Gln) n.1615C>G c.987C>G (p.His329Gln) c.3399C>G (p.His1133Gln) c.3396C>G (p.His1132Gln) c.3384C>G (p.His1128Gln) c.3372C>G (p.His1124Gln) c.3339C>G (p.His1113Gln) c.3282C>G (p.His1094Gln) c.3381C>G (p.His1127Gln) c.3357C>G (p.His1119Gln) c.3192C>G (p.His1064Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986195G= | CA1156049120 | ATP13A2 | c.*26C= (n.*26C=) c.3267C= (p.His1089=) n.1615C= c.987C= (p.His329=) c.3399C= (p.His1133=) c.3396C= (p.His1132=) c.3384C= (p.His1128=) c.3372C= (p.His1124=) c.3339C= (p.His1113=) c.3282C= (p.His1094=) c.3381C= (p.His1127=) c.3357C= (p.His1119=) c.3192C= (p.His1064=) | |
| 1 | g.16986195G>T | CA338231688 | ATP13A2 | c.*26C>A (n.*26C>A) c.3267C>A (p.His1089Gln) n.1615C>A c.987C>A (p.His329Gln) c.3399C>A (p.His1133Gln) c.3396C>A (p.His1132Gln) c.3384C>A (p.His1128Gln) c.3372C>A (p.His1124Gln) c.3339C>A (p.His1113Gln) c.3282C>A (p.His1094Gln) c.3381C>A (p.His1127Gln) c.3357C>A (p.His1119Gln) c.3192C>A (p.His1064Gln) | |
| 1 | g.16986196T>A | CA338231694 | ATP13A2 | c.*25A>T (n.*25A>T) c.3266A>T (p.His1089Leu) n.1614A>T c.986A>T (p.His329Leu) c.3398A>T (p.His1133Leu) c.3395A>T (p.His1132Leu) c.3383A>T (p.His1128Leu) c.3371A>T (p.His1124Leu) c.3338A>T (p.His1113Leu) c.3281A>T (p.His1094Leu) c.3380A>T (p.His1127Leu) c.3356A>T (p.His1119Leu) c.3191A>T (p.His1064Leu) | |
| 1 | g.16986196T>C | CA338231696 | ATP13A2 | c.*25A>G (n.*25A>G) c.3266A>G (p.His1089Arg) n.1614A>G c.986A>G (p.His329Arg) c.3398A>G (p.His1133Arg) c.3395A>G (p.His1132Arg) c.3383A>G (p.His1128Arg) c.3371A>G (p.His1124Arg) c.3338A>G (p.His1113Arg) c.3281A>G (p.His1094Arg) c.3380A>G (p.His1127Arg) c.3356A>G (p.His1119Arg) c.3191A>G (p.His1064Arg) | gnomAD v4 |
| 1 | g.16986196T>G | CA338231698 | ATP13A2 | c.*25A>C (n.*25A>C) c.3266A>C (p.His1089Pro) n.1614A>C c.986A>C (p.His329Pro) c.3398A>C (p.His1133Pro) c.3395A>C (p.His1132Pro) c.3383A>C (p.His1128Pro) c.3371A>C (p.His1124Pro) c.3338A>C (p.His1113Pro) c.3281A>C (p.His1094Pro) c.3380A>C (p.His1127Pro) c.3356A>C (p.His1119Pro) c.3191A>C (p.His1064Pro) | |
| 1 | g.16986197G>A | CA636448 | ATP13A2 | c.*24C>T (n.*24C>T) c.3265C>T (p.His1089Tyr) n.1613C>T c.985C>T (p.His329Tyr) c.3397C>T (p.His1133Tyr) c.3394C>T (p.His1132Tyr) c.3382C>T (p.His1128Tyr) c.3370C>T (p.His1124Tyr) c.3337C>T (p.His1113Tyr) c.3280C>T (p.His1094Tyr) c.3379C>T (p.His1127Tyr) c.3355C>T (p.His1119Tyr) c.3190C>T (p.His1064Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986197G>C | CA338231703 | ATP13A2 | c.*24C>G (n.*24C>G) c.3265C>G (p.His1089Asp) n.1613C>G c.985C>G (p.His329Asp) c.3397C>G (p.His1133Asp) c.3394C>G (p.His1132Asp) c.3382C>G (p.His1128Asp) c.3370C>G (p.His1124Asp) c.3337C>G (p.His1113Asp) c.3280C>G (p.His1094Asp) c.3379C>G (p.His1127Asp) c.3355C>G (p.His1119Asp) c.3190C>G (p.His1064Asp) | |
| 1 | g.16986197G= | CA1144065394 | ATP13A2 | c.*24C= (n.*24C=) c.3265C= (p.His1089=) n.1613C= c.985C= (p.His329=) c.3397C= (p.His1133=) c.3394C= (p.His1132=) c.3382C= (p.His1128=) c.3370C= (p.His1124=) c.3337C= (p.His1113=) c.3280C= (p.His1094=) c.3379C= (p.His1127=) c.3355C= (p.His1119=) c.3190C= (p.His1064=) | |
| 1 | g.16986197G>T | CA338231700 | ATP13A2 | c.*24C>A (n.*24C>A) c.3265C>A (p.His1089Asn) n.1613C>A c.985C>A (p.His329Asn) c.3397C>A (p.His1133Asn) c.3394C>A (p.His1132Asn) c.3382C>A (p.His1128Asn) c.3370C>A (p.His1124Asn) c.3337C>A (p.His1113Asn) c.3280C>A (p.His1094Asn) c.3379C>A (p.His1127Asn) c.3355C>A (p.His1119Asn) c.3190C>A (p.His1064Asn) | |
| 1 | g.16986198T>A | CA338231716 | ATP13A2 | c.*23A>T (n.*23A>T) c.3264A>T (p.Arg1088Ser) n.1612A>T c.984A>T (p.Arg328Ser) c.3396A>T (p.Arg1132Ser) c.3393A>T (p.Arg1131Ser) c.3381A>T (p.Arg1127Ser) c.3369A>T (p.Arg1123Ser) c.3336A>T (p.Arg1112Ser) c.3279A>T (p.Arg1093Ser) c.3378A>T (p.Arg1126Ser) c.3354A>T (p.Arg1118Ser) c.3189A>T (p.Arg1063Ser) | |
| 1 | g.16986198T>G | CA338231724 | ATP13A2 | c.*23A>C (n.*23A>C) c.3264A>C (p.Arg1088Ser) n.1612A>C c.984A>C (p.Arg328Ser) c.3396A>C (p.Arg1132Ser) c.3393A>C (p.Arg1131Ser) c.3381A>C (p.Arg1127Ser) c.3369A>C (p.Arg1123Ser) c.3336A>C (p.Arg1112Ser) c.3279A>C (p.Arg1093Ser) c.3378A>C (p.Arg1126Ser) c.3354A>C (p.Arg1118Ser) c.3189A>C (p.Arg1063Ser) | |
| 1 | g.16986199C>A | CA338231728 | ATP13A2 | c.*22G>T (n.*22G>T) c.3263G>T (p.Arg1088Ile) n.1611G>T c.983G>T (p.Arg328Ile) c.3395G>T (p.Arg1132Ile) c.3392G>T (p.Arg1131Ile) c.3380G>T (p.Arg1127Ile) c.3368G>T (p.Arg1123Ile) c.3335G>T (p.Arg1112Ile) c.3278G>T (p.Arg1093Ile) c.3377G>T (p.Arg1126Ile) c.3353G>T (p.Arg1118Ile) c.3188G>T (p.Arg1063Ile) | dbSNP gnomAD v2 |
| 1 | g.16986199C= | CA1156049127 | ATP13A2 | c.*22G= (n.*22G=) c.3263G= (p.Arg1088=) n.1611G= c.983G= (p.Arg328=) c.3395G= (p.Arg1132=) c.3392G= (p.Arg1131=) c.3380G= (p.Arg1127=) c.3368G= (p.Arg1123=) c.3335G= (p.Arg1112=) c.3278G= (p.Arg1093=) c.3377G= (p.Arg1126=) c.3353G= (p.Arg1118=) c.3188G= (p.Arg1063=) | |
| 1 | g.16986199C>G | CA338231730 | ATP13A2 | c.*22G>C (n.*22G>C) c.3263G>C (p.Arg1088Thr) n.1611G>C c.983G>C (p.Arg328Thr) c.3395G>C (p.Arg1132Thr) c.3392G>C (p.Arg1131Thr) c.3380G>C (p.Arg1127Thr) c.3368G>C (p.Arg1123Thr) c.3335G>C (p.Arg1112Thr) c.3278G>C (p.Arg1093Thr) c.3377G>C (p.Arg1126Thr) c.3353G>C (p.Arg1118Thr) c.3188G>C (p.Arg1063Thr) | |
| 1 | g.16986199C>T | CA338231733 | ATP13A2 | c.*22G>A (n.*22G>A) c.3263G>A (p.Arg1088Lys) n.1611G>A c.983G>A (p.Arg328Lys) c.3395G>A (p.Arg1132Lys) c.3392G>A (p.Arg1131Lys) c.3380G>A (p.Arg1127Lys) c.3368G>A (p.Arg1123Lys) c.3335G>A (p.Arg1112Lys) c.3278G>A (p.Arg1093Lys) c.3377G>A (p.Arg1126Lys) c.3353G>A (p.Arg1118Lys) c.3188G>A (p.Arg1063Lys) | |
| 1 | g.16986200T>A | CA338231749 | ATP13A2 | c.*21A>T (n.*21A>T) c.3262A>T (p.Arg1088Ter) n.1610A>T c.982A>T (p.Arg328Ter) c.3394A>T (p.Arg1132Ter) c.3391A>T (p.Arg1131Ter) c.3379A>T (p.Arg1127Ter) c.3367A>T (p.Arg1123Ter) c.3334A>T (p.Arg1112Ter) c.3277A>T (p.Arg1093Ter) c.3376A>T (p.Arg1126Ter) c.3352A>T (p.Arg1118Ter) c.3187A>T (p.Arg1063Ter) | |
| 1 | g.16986200T>C | CA338231751 | ATP13A2 | c.*21A>G (n.*21A>G) c.3262A>G (p.Arg1088Gly) n.1610A>G c.982A>G (p.Arg328Gly) c.3394A>G (p.Arg1132Gly) c.3391A>G (p.Arg1131Gly) c.3379A>G (p.Arg1127Gly) c.3367A>G (p.Arg1123Gly) c.3334A>G (p.Arg1112Gly) c.3277A>G (p.Arg1093Gly) c.3376A>G (p.Arg1126Gly) c.3352A>G (p.Arg1118Gly) c.3187A>G (p.Arg1063Gly) | gnomAD v4 |
| 1 | g.16986201G>A | CA2643668095 | ATP13A2 | c.*20C>T (n.*20C>T) c.3261C>T (p.Pro1087=) n.1609C>T c.981C>T (p.Pro327=) c.3393C>T (p.Pro1131=) c.3390C>T (p.Pro1130=) c.3378C>T (p.Pro1126=) c.3366C>T (p.Pro1122=) c.3333C>T (p.Pro1111=) c.3276C>T (p.Pro1092=) c.3375C>T (p.Pro1125=) c.3351C>T (p.Pro1117=) c.3186C>T (p.Pro1062=) | gnomAD v4 |
| 1 | g.16986201G= | CA1156049129 | ATP13A2 | c.*20C= (n.*20C=) c.3261C= (p.Pro1087=) n.1609C= c.981C= (p.Pro327=) c.3393C= (p.Pro1131=) c.3390C= (p.Pro1130=) c.3378C= (p.Pro1126=) c.3366C= (p.Pro1122=) c.3333C= (p.Pro1111=) c.3276C= (p.Pro1092=) c.3375C= (p.Pro1125=) c.3351C= (p.Pro1117=) c.3186C= (p.Pro1062=) | |
| 1 | g.16986201G>T | CA1156049130 | ATP13A2 | c.*20C>A (n.*20C>A) c.3261C>A (p.Pro1087=) n.1609C>A c.981C>A (p.Pro327=) c.3393C>A (p.Pro1131=) c.3390C>A (p.Pro1130=) c.3378C>A (p.Pro1126=) c.3366C>A (p.Pro1122=) c.3333C>A (p.Pro1111=) c.3276C>A (p.Pro1092=) c.3375C>A (p.Pro1125=) c.3351C>A (p.Pro1117=) c.3186C>A (p.Pro1062=) | dbSNP |
| 1 | g.16986202G>A | CA338231753 | ATP13A2 | c.*19C>T (n.*19C>T) c.3260C>T (p.Pro1087Leu) n.1608C>T c.980C>T (p.Pro327Leu) c.3392C>T (p.Pro1131Leu) c.3389C>T (p.Pro1130Leu) c.3377C>T (p.Pro1126Leu) c.3365C>T (p.Pro1122Leu) c.3332C>T (p.Pro1111Leu) c.3275C>T (p.Pro1092Leu) c.3374C>T (p.Pro1125Leu) c.3350C>T (p.Pro1117Leu) c.3185C>T (p.Pro1062Leu) | |
| 1 | g.16986202G>C | CA338231755 | ATP13A2 | c.*19C>G (n.*19C>G) c.3260C>G (p.Pro1087Arg) n.1608C>G c.980C>G (p.Pro327Arg) c.3392C>G (p.Pro1131Arg) c.3389C>G (p.Pro1130Arg) c.3377C>G (p.Pro1126Arg) c.3365C>G (p.Pro1122Arg) c.3332C>G (p.Pro1111Arg) c.3275C>G (p.Pro1092Arg) c.3374C>G (p.Pro1125Arg) c.3350C>G (p.Pro1117Arg) c.3185C>G (p.Pro1062Arg) | gnomAD v4 |
| 1 | g.16986202G>T | CA338231756 | ATP13A2 | c.*19C>A (n.*19C>A) c.3260C>A (p.Pro1087His) n.1608C>A c.980C>A (p.Pro327His) c.3392C>A (p.Pro1131His) c.3389C>A (p.Pro1130His) c.3377C>A (p.Pro1126His) c.3365C>A (p.Pro1122His) c.3332C>A (p.Pro1111His) c.3275C>A (p.Pro1092His) c.3374C>A (p.Pro1125His) c.3350C>A (p.Pro1117His) c.3185C>A (p.Pro1062His) | COSMIC |
| 1 | g.16986203G>A | CA338231759 | ATP13A2 | c.*18C>T (n.*18C>T) c.3259C>T (p.Pro1087Ser) n.1607C>T c.979C>T (p.Pro327Ser) c.3391C>T (p.Pro1131Ser) c.3388C>T (p.Pro1130Ser) c.3376C>T (p.Pro1126Ser) c.3364C>T (p.Pro1122Ser) c.3331C>T (p.Pro1111Ser) c.3274C>T (p.Pro1092Ser) c.3373C>T (p.Pro1125Ser) c.3349C>T (p.Pro1117Ser) c.3184C>T (p.Pro1062Ser) | dbSNP gnomAD v2 |
| 1 | g.16986203G>C | CA338231758 | ATP13A2 | c.*18C>G (n.*18C>G) c.3259C>G (p.Pro1087Ala) n.1607C>G c.979C>G (p.Pro327Ala) c.3391C>G (p.Pro1131Ala) c.3388C>G (p.Pro1130Ala) c.3376C>G (p.Pro1126Ala) c.3364C>G (p.Pro1122Ala) c.3331C>G (p.Pro1111Ala) c.3274C>G (p.Pro1092Ala) c.3373C>G (p.Pro1125Ala) c.3349C>G (p.Pro1117Ala) c.3184C>G (p.Pro1062Ala) | |
| 1 | g.16986203G= | CA1156049135 | ATP13A2 | c.*18C= (n.*18C=) c.3259C= (p.Pro1087=) n.1607C= c.979C= (p.Pro327=) c.3391C= (p.Pro1131=) c.3388C= (p.Pro1130=) c.3376C= (p.Pro1126=) c.3364C= (p.Pro1122=) c.3331C= (p.Pro1111=) c.3274C= (p.Pro1092=) c.3373C= (p.Pro1125=) c.3349C= (p.Pro1117=) c.3184C= (p.Pro1062=) | |
| 1 | g.16986203G>T | CA338231757 | ATP13A2 | c.*18C>A (n.*18C>A) c.3259C>A (p.Pro1087Thr) n.1607C>A c.979C>A (p.Pro327Thr) c.3391C>A (p.Pro1131Thr) c.3388C>A (p.Pro1130Thr) c.3376C>A (p.Pro1126Thr) c.3364C>A (p.Pro1122Thr) c.3331C>A (p.Pro1111Thr) c.3274C>A (p.Pro1092Thr) c.3373C>A (p.Pro1125Thr) c.3349C>A (p.Pro1117Thr) c.3184C>A (p.Pro1062Thr) | |
| 1 | g.16986204G>A | CA890928552 | ATP13A2 | c.*17C>T (n.*17C>T) c.3258C>T (p.His1086=) n.1606C>T c.978C>T (p.His326=) c.3390C>T (p.His1130=) c.3387C>T (p.His1129=) c.3375C>T (p.His1125=) c.3363C>T (p.His1121=) c.3330C>T (p.His1110=) c.3273C>T (p.His1091=) c.3372C>T (p.His1124=) c.3348C>T (p.His1116=) c.3183C>T (p.His1061=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.16986204G>C | CA338231760 | ATP13A2 | c.*17C>G (n.*17C>G) c.3258C>G (p.His1086Gln) n.1606C>G c.978C>G (p.His326Gln) c.3390C>G (p.His1130Gln) c.3387C>G (p.His1129Gln) c.3375C>G (p.His1125Gln) c.3363C>G (p.His1121Gln) c.3330C>G (p.His1110Gln) c.3273C>G (p.His1091Gln) c.3372C>G (p.His1124Gln) c.3348C>G (p.His1116Gln) c.3183C>G (p.His1061Gln) | |
| 1 | g.16986204G= | CA1156049144 | ATP13A2 | c.*17C= (n.*17C=) c.3258C= (p.His1086=) n.1606C= c.978C= (p.His326=) c.3390C= (p.His1130=) c.3387C= (p.His1129=) c.3375C= (p.His1125=) c.3363C= (p.His1121=) c.3330C= (p.His1110=) c.3273C= (p.His1091=) c.3372C= (p.His1124=) c.3348C= (p.His1116=) c.3183C= (p.His1061=) | |
| 1 | g.16986204G>T | CA338231761 | ATP13A2 | c.*17C>A (n.*17C>A) c.3258C>A (p.His1086Gln) n.1606C>A c.978C>A (p.His326Gln) c.3390C>A (p.His1130Gln) c.3387C>A (p.His1129Gln) c.3375C>A (p.His1125Gln) c.3363C>A (p.His1121Gln) c.3330C>A (p.His1110Gln) c.3273C>A (p.His1091Gln) c.3372C>A (p.His1124Gln) c.3348C>A (p.His1116Gln) c.3183C>A (p.His1061Gln) | |
| 1 | g.16986205T>A | CA338231764 | ATP13A2 | c.*16A>T (n.*16A>T) c.3257A>T (p.His1086Leu) n.1605A>T c.977A>T (p.His326Leu) c.3389A>T (p.His1130Leu) c.3386A>T (p.His1129Leu) c.3374A>T (p.His1125Leu) c.3362A>T (p.His1121Leu) c.3329A>T (p.His1110Leu) c.3272A>T (p.His1091Leu) c.3371A>T (p.His1124Leu) c.3347A>T (p.His1116Leu) c.3182A>T (p.His1061Leu) | |
| 1 | g.16986205T>C | CA338231766 | ATP13A2 | c.*16A>G (n.*16A>G) c.3257A>G (p.His1086Arg) n.1605A>G c.977A>G (p.His326Arg) c.3389A>G (p.His1130Arg) c.3386A>G (p.His1129Arg) c.3374A>G (p.His1125Arg) c.3362A>G (p.His1121Arg) c.3329A>G (p.His1110Arg) c.3272A>G (p.His1091Arg) c.3371A>G (p.His1124Arg) c.3347A>G (p.His1116Arg) c.3182A>G (p.His1061Arg) | |
| 1 | g.16986205T>G | CA338231769 | ATP13A2 | c.*16A>C (n.*16A>C) c.3257A>C (p.His1086Pro) n.1605A>C c.977A>C (p.His326Pro) c.3389A>C (p.His1130Pro) c.3386A>C (p.His1129Pro) c.3374A>C (p.His1125Pro) c.3362A>C (p.His1121Pro) c.3329A>C (p.His1110Pro) c.3272A>C (p.His1091Pro) c.3371A>C (p.His1124Pro) c.3347A>C (p.His1116Pro) c.3182A>C (p.His1061Pro) | gnomAD v4 |
| 1 | g.16986206G>A | CA338231772 | ATP13A2 | c.*15C>T (n.*15C>T) c.3256C>T (p.His1086Tyr) n.1604C>T c.976C>T (p.His326Tyr) c.3388C>T (p.His1130Tyr) c.3385C>T (p.His1129Tyr) c.3373C>T (p.His1125Tyr) c.3361C>T (p.His1121Tyr) c.3328C>T (p.His1110Tyr) c.3271C>T (p.His1091Tyr) c.3370C>T (p.His1124Tyr) c.3346C>T (p.His1116Tyr) c.3181C>T (p.His1061Tyr) | |
| 1 | g.16986206G>C | CA338231777 | ATP13A2 | c.*15C>G (n.*15C>G) c.3256C>G (p.His1086Asp) n.1604C>G c.976C>G (p.His326Asp) c.3388C>G (p.His1130Asp) c.3385C>G (p.His1129Asp) c.3373C>G (p.His1125Asp) c.3361C>G (p.His1121Asp) c.3328C>G (p.His1110Asp) c.3271C>G (p.His1091Asp) c.3370C>G (p.His1124Asp) c.3346C>G (p.His1116Asp) c.3181C>G (p.His1061Asp) | |
| 1 | g.16986206G>T | CA338231783 | ATP13A2 | c.*15C>A (n.*15C>A) c.3256C>A (p.His1086Asn) n.1604C>A c.976C>A (p.His326Asn) c.3388C>A (p.His1130Asn) c.3385C>A (p.His1129Asn) c.3373C>A (p.His1125Asn) c.3361C>A (p.His1121Asn) c.3328C>A (p.His1110Asn) c.3271C>A (p.His1091Asn) c.3370C>A (p.His1124Asn) c.3346C>A (p.His1116Asn) c.3181C>A (p.His1061Asn) | |
| 1 | g.16986207C= | CA1156049148 | ATP13A2 | c.*14G= (n.*14G=) c.3255G= (p.Gly1085=) n.1603G= c.975G= (p.Gly325=) c.3387G= (p.Gly1129=) c.3384G= (p.Gly1128=) c.3372G= (p.Gly1124=) c.3360G= (p.Gly1120=) c.3327G= (p.Gly1109=) c.3270G= (p.Gly1090=) c.3369G= (p.Gly1123=) c.3345G= (p.Gly1115=) c.3180G= (p.Gly1060=) | |
| 1 | g.16986207C>G | CA2643668115 | ATP13A2 | c.*14G>C (n.*14G>C) c.3255G>C (p.Gly1085=) n.1603G>C c.975G>C (p.Gly325=) c.3387G>C (p.Gly1129=) c.3384G>C (p.Gly1128=) c.3372G>C (p.Gly1124=) c.3360G>C (p.Gly1120=) c.3327G>C (p.Gly1109=) c.3270G>C (p.Gly1090=) c.3369G>C (p.Gly1123=) c.3345G>C (p.Gly1115=) c.3180G>C (p.Gly1060=) | gnomAD v4 |
| 1 | g.16986207C>T | CA521449616 | ATP13A2 | c.*14G>A (n.*14G>A) c.3255G>A (p.Gly1085=) n.1603G>A c.975G>A (p.Gly325=) c.3387G>A (p.Gly1129=) c.3384G>A (p.Gly1128=) c.3372G>A (p.Gly1124=) c.3360G>A (p.Gly1120=) c.3327G>A (p.Gly1109=) c.3270G>A (p.Gly1090=) c.3369G>A (p.Gly1123=) c.3345G>A (p.Gly1115=) c.3180G>A (p.Gly1060=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986208C>A | CA338231784 | ATP13A2 | c.*13G>T (n.*13G>T) c.3254G>T (p.Gly1085Val) n.1602G>T c.974G>T (p.Gly325Val) c.3386G>T (p.Gly1129Val) c.3383G>T (p.Gly1128Val) c.3371G>T (p.Gly1124Val) c.3359G>T (p.Gly1120Val) c.3326G>T (p.Gly1109Val) c.3269G>T (p.Gly1090Val) c.3368G>T (p.Gly1123Val) c.3344G>T (p.Gly1115Val) c.3179G>T (p.Gly1060Val) | |
| 1 | g.16986208C= | CA1140628853 | ATP13A2 | c.*13G= (n.*13G=) c.3254G= (p.Gly1085=) n.1602G= c.974G= (p.Gly325=) c.3386G= (p.Gly1129=) c.3383G= (p.Gly1128=) c.3371G= (p.Gly1124=) c.3359G= (p.Gly1120=) c.3326G= (p.Gly1109=) c.3269G= (p.Gly1090=) c.3368G= (p.Gly1123=) c.3344G= (p.Gly1115=) c.3179G= (p.Gly1060=) | |
| 1 | g.16986208C>G | CA338231787 | ATP13A2 | c.*13G>C (n.*13G>C) c.3254G>C (p.Gly1085Ala) n.1602G>C c.974G>C (p.Gly325Ala) c.3386G>C (p.Gly1129Ala) c.3383G>C (p.Gly1128Ala) c.3371G>C (p.Gly1124Ala) c.3359G>C (p.Gly1120Ala) c.3326G>C (p.Gly1109Ala) c.3269G>C (p.Gly1090Ala) c.3368G>C (p.Gly1123Ala) c.3344G>C (p.Gly1115Ala) c.3179G>C (p.Gly1060Ala) | |
| 1 | g.16986208C>T | CA18624545 | ATP13A2 | c.*13G>A (n.*13G>A) c.3254G>A (p.Gly1085Glu) n.1602G>A c.974G>A (p.Gly325Glu) c.3386G>A (p.Gly1129Glu) c.3383G>A (p.Gly1128Glu) c.3371G>A (p.Gly1124Glu) c.3359G>A (p.Gly1120Glu) c.3326G>A (p.Gly1109Glu) c.3269G>A (p.Gly1090Glu) c.3368G>A (p.Gly1123Glu) c.3344G>A (p.Gly1115Glu) c.3179G>A (p.Gly1060Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986209C>A | CA338231795 | ATP13A2 | c.*12G>T (n.*12G>T) c.3253G>T (p.Gly1085Trp) n.1601G>T c.973G>T (p.Gly325Trp) c.3385G>T (p.Gly1129Trp) c.3382G>T (p.Gly1128Trp) c.3370G>T (p.Gly1124Trp) c.3358G>T (p.Gly1120Trp) c.3325G>T (p.Gly1109Trp) c.3268G>T (p.Gly1090Trp) c.3367G>T (p.Gly1123Trp) c.3343G>T (p.Gly1115Trp) c.3178G>T (p.Gly1060Trp) | |
| 1 | g.16986209C= | CA1156049154 | ATP13A2 | c.*12G= (n.*12G=) c.3253G= (p.Gly1085=) n.1601G= c.973G= (p.Gly325=) c.3385G= (p.Gly1129=) c.3382G= (p.Gly1128=) c.3370G= (p.Gly1124=) c.3358G= (p.Gly1120=) c.3325G= (p.Gly1109=) c.3268G= (p.Gly1090=) c.3367G= (p.Gly1123=) c.3343G= (p.Gly1115=) c.3178G= (p.Gly1060=) | |
| 1 | g.16986209C>G | CA338231797 | ATP13A2 | c.*12G>C (n.*12G>C) c.3253G>C (p.Gly1085Arg) n.1601G>C c.973G>C (p.Gly325Arg) c.3385G>C (p.Gly1129Arg) c.3382G>C (p.Gly1128Arg) c.3370G>C (p.Gly1124Arg) c.3358G>C (p.Gly1120Arg) c.3325G>C (p.Gly1109Arg) c.3268G>C (p.Gly1090Arg) c.3367G>C (p.Gly1123Arg) c.3343G>C (p.Gly1115Arg) c.3178G>C (p.Gly1060Arg) | gnomAD v4 |
| 1 | g.16986209C>T | CA636449 | ATP13A2 | c.*12G>A (n.*12G>A) c.3253G>A (p.Gly1085Arg) n.1601G>A c.973G>A (p.Gly325Arg) c.3385G>A (p.Gly1129Arg) c.3382G>A (p.Gly1128Arg) c.3370G>A (p.Gly1124Arg) c.3358G>A (p.Gly1120Arg) c.3325G>A (p.Gly1109Arg) c.3268G>A (p.Gly1090Arg) c.3367G>A (p.Gly1123Arg) c.3343G>A (p.Gly1115Arg) c.3178G>A (p.Gly1060Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.16986210G>A | CA636450 | ATP13A2 | c.*11C>T (n.*11C>T) c.3252C>T (p.His1084=) n.1600C>T c.972C>T (p.His324=) c.3384C>T (p.His1128=) c.3381C>T (p.His1127=) c.3369C>T (p.His1123=) c.3357C>T (p.His1119=) c.3324C>T (p.His1108=) c.3267C>T (p.His1089=) c.3366C>T (p.His1122=) c.3342C>T (p.His1114=) c.3177C>T (p.His1059=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.16986210G>C | CA338231806 | ATP13A2 | c.*11C>G (n.*11C>G) c.3252C>G (p.His1084Gln) n.1600C>G c.972C>G (p.His324Gln) c.3384C>G (p.His1128Gln) c.3381C>G (p.His1127Gln) c.3369C>G (p.His1123Gln) c.3357C>G (p.His1119Gln) c.3324C>G (p.His1108Gln) c.3267C>G (p.His1089Gln) c.3366C>G (p.His1122Gln) c.3342C>G (p.His1114Gln) c.3177C>G (p.His1059Gln) | |
| 1 | g.16986210G= | CA1143692840 | ATP13A2 | c.*11C= (n.*11C=) c.3252C= (p.His1084=) n.1600C= c.972C= (p.His324=) c.3384C= (p.His1128=) c.3381C= (p.His1127=) c.3369C= (p.His1123=) c.3357C= (p.His1119=) c.3324C= (p.His1108=) c.3267C= (p.His1089=) c.3366C= (p.His1122=) c.3342C= (p.His1114=) c.3177C= (p.His1059=) | |
| 1 | g.16986210G>T | CA338231803 | ATP13A2 | c.*11C>A (n.*11C>A) c.3252C>A (p.His1084Gln) n.1600C>A c.972C>A (p.His324Gln) c.3384C>A (p.His1128Gln) c.3381C>A (p.His1127Gln) c.3369C>A (p.His1123Gln) c.3357C>A (p.His1119Gln) c.3324C>A (p.His1108Gln) c.3267C>A (p.His1089Gln) c.3366C>A (p.His1122Gln) c.3342C>A (p.His1114Gln) c.3177C>A (p.His1059Gln) | |
| 1 | g.16986211T>A | CA338231807 | ATP13A2 | c.*10A>T (n.*10A>T) c.3251A>T (p.His1084Leu) n.1599A>T c.971A>T (p.His324Leu) c.3383A>T (p.His1128Leu) c.3380A>T (p.His1127Leu) c.3368A>T (p.His1123Leu) c.3356A>T (p.His1119Leu) c.3323A>T (p.His1108Leu) c.3266A>T (p.His1089Leu) c.3365A>T (p.His1122Leu) c.3341A>T (p.His1114Leu) c.3176A>T (p.His1059Leu) | |
| 1 | g.16986211T>C | CA636451 | ATP13A2 | c.*10A>G (n.*10A>G) c.3251A>G (p.His1084Arg) n.1599A>G c.971A>G (p.His324Arg) c.3383A>G (p.His1128Arg) c.3380A>G (p.His1127Arg) c.3368A>G (p.His1123Arg) c.3356A>G (p.His1119Arg) c.3323A>G (p.His1108Arg) c.3266A>G (p.His1089Arg) c.3365A>G (p.His1122Arg) c.3341A>G (p.His1114Arg) c.3176A>G (p.His1059Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.16986211T>G | CA338231808 | ATP13A2 | c.*10A>C (n.*10A>C) c.3251A>C (p.His1084Pro) n.1599A>C c.971A>C (p.His324Pro) c.3383A>C (p.His1128Pro) c.3380A>C (p.His1127Pro) c.3368A>C (p.His1123Pro) c.3356A>C (p.His1119Pro) c.3323A>C (p.His1108Pro) c.3266A>C (p.His1089Pro) c.3365A>C (p.His1122Pro) c.3341A>C (p.His1114Pro) c.3176A>C (p.His1059Pro) | |
| 1 | g.16986211T= | CA1156049161 | ATP13A2 | c.*10A= (n.*10A=) c.3251A= (p.His1084=) n.1599A= c.971A= (p.His324=) c.3383A= (p.His1128=) c.3380A= (p.His1127=) c.3368A= (p.His1123=) c.3356A= (p.His1119=) c.3323A= (p.His1108=) c.3266A= (p.His1089=) c.3365A= (p.His1122=) c.3341A= (p.His1114=) c.3176A= (p.His1059=) | |
| 1 | g.16986212G>A | CA338231810 | ATP13A2 | c.*9C>T (n.*9C>T) c.3250C>T (p.His1084Tyr) n.1598C>T c.970C>T (p.His324Tyr) c.3382C>T (p.His1128Tyr) c.3379C>T (p.His1127Tyr) c.3367C>T (p.His1123Tyr) c.3355C>T (p.His1119Tyr) c.3322C>T (p.His1108Tyr) c.3265C>T (p.His1089Tyr) c.3364C>T (p.His1122Tyr) c.3340C>T (p.His1114Tyr) c.3175C>T (p.His1059Tyr) | |
| 1 | g.16986212G>C | CA338231812 | ATP13A2 | c.*9C>G (n.*9C>G) c.3250C>G (p.His1084Asp) n.1598C>G c.970C>G (p.His324Asp) c.3382C>G (p.His1128Asp) c.3379C>G (p.His1127Asp) c.3367C>G (p.His1123Asp) c.3355C>G (p.His1119Asp) c.3322C>G (p.His1108Asp) c.3265C>G (p.His1089Asp) c.3364C>G (p.His1122Asp) c.3340C>G (p.His1114Asp) c.3175C>G (p.His1059Asp) | gnomAD v4 |
| 1 | g.16986212G= | CA1156049168 | ATP13A2 | c.*9C= (n.*9C=) c.3250C= (p.His1084=) n.1598C= c.970C= (p.His324=) c.3382C= (p.His1128=) c.3379C= (p.His1127=) c.3367C= (p.His1123=) c.3355C= (p.His1119=) c.3322C= (p.His1108=) c.3265C= (p.His1089=) c.3364C= (p.His1122=) c.3340C= (p.His1114=) c.3175C= (p.His1059=) | |
| 1 | g.16986212G>T | CA636452 | ATP13A2 | c.*9C>A (n.*9C>A) c.3250C>A (p.His1084Asn) n.1598C>A c.970C>A (p.His324Asn) c.3382C>A (p.His1128Asn) c.3379C>A (p.His1127Asn) c.3367C>A (p.His1123Asn) c.3355C>A (p.His1119Asn) c.3322C>A (p.His1108Asn) c.3265C>A (p.His1089Asn) c.3364C>A (p.His1122Asn) c.3340C>A (p.His1114Asn) c.3175C>A (p.His1059Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986213G>A | CA521449621 | ATP13A2 | c.*8C>T (n.*8C>T) c.3249C>T (p.Ala1083=) n.1597C>T c.969C>T (p.Ala323=) c.3381C>T (p.Ala1127=) c.3378C>T (p.Ala1126=) c.3366C>T (p.Ala1122=) c.3354C>T (p.Ala1118=) c.3321C>T (p.Ala1107=) c.3264C>T (p.Ala1088=) c.3363C>T (p.Ala1121=) c.3339C>T (p.Ala1113=) c.3174C>T (p.Ala1058=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986213G= | CA1156049176 | ATP13A2 | c.*8C= (n.*8C=) c.3249C= (p.Ala1083=) n.1597C= c.969C= (p.Ala323=) c.3381C= (p.Ala1127=) c.3378C= (p.Ala1126=) c.3366C= (p.Ala1122=) c.3354C= (p.Ala1118=) c.3321C= (p.Ala1107=) c.3264C= (p.Ala1088=) c.3363C= (p.Ala1121=) c.3339C= (p.Ala1113=) c.3174C= (p.Ala1058=) | |
| 1 | g.16986214G>A | CA338231813 | ATP13A2 | c.*7C>T (n.*7C>T) c.3248C>T (p.Ala1083Val) n.1596C>T c.968C>T (p.Ala323Val) c.3380C>T (p.Ala1127Val) c.3377C>T (p.Ala1126Val) c.3365C>T (p.Ala1122Val) c.3353C>T (p.Ala1118Val) c.3320C>T (p.Ala1107Val) c.3263C>T (p.Ala1088Val) c.3362C>T (p.Ala1121Val) c.3338C>T (p.Ala1113Val) c.3173C>T (p.Ala1058Val) | |
| 1 | g.16986214G>C | CA338231814 | ATP13A2 | c.*7C>G (n.*7C>G) c.3248C>G (p.Ala1083Gly) n.1596C>G c.968C>G (p.Ala323Gly) c.3380C>G (p.Ala1127Gly) c.3377C>G (p.Ala1126Gly) c.3365C>G (p.Ala1122Gly) c.3353C>G (p.Ala1118Gly) c.3320C>G (p.Ala1107Gly) c.3263C>G (p.Ala1088Gly) c.3362C>G (p.Ala1121Gly) c.3338C>G (p.Ala1113Gly) c.3173C>G (p.Ala1058Gly) | |
| 1 | g.16986214G>T | CA338231816 | ATP13A2 | c.*7C>A (n.*7C>A) c.3248C>A (p.Ala1083Asp) n.1596C>A c.968C>A (p.Ala323Asp) c.3380C>A (p.Ala1127Asp) c.3377C>A (p.Ala1126Asp) c.3365C>A (p.Ala1122Asp) c.3353C>A (p.Ala1118Asp) c.3320C>A (p.Ala1107Asp) c.3263C>A (p.Ala1088Asp) c.3362C>A (p.Ala1121Asp) c.3338C>A (p.Ala1113Asp) c.3173C>A (p.Ala1058Asp) | |
| 1 | g.16986215C>A | CA338231818 | ATP13A2 | c.*6G>T (n.*6G>T) c.3247G>T (p.Ala1083Ser) n.1595G>T c.967G>T (p.Ala323Ser) c.3379G>T (p.Ala1127Ser) c.3376G>T (p.Ala1126Ser) c.3364G>T (p.Ala1122Ser) c.3352G>T (p.Ala1118Ser) c.3319G>T (p.Ala1107Ser) c.3262G>T (p.Ala1088Ser) c.3361G>T (p.Ala1121Ser) c.3337G>T (p.Ala1113Ser) c.3172G>T (p.Ala1058Ser) | gnomAD v4 |
| 1 | g.16986215C= | CA1149125398 | ATP13A2 | c.*6G= (n.*6G=) c.3247G= (p.Ala1083=) n.1595G= c.967G= (p.Ala323=) c.3379G= (p.Ala1127=) c.3376G= (p.Ala1126=) c.3364G= (p.Ala1122=) c.3352G= (p.Ala1118=) c.3319G= (p.Ala1107=) c.3262G= (p.Ala1088=) c.3361G= (p.Ala1121=) c.3337G= (p.Ala1113=) c.3172G= (p.Ala1058=) | |
| 1 | g.16986215C>G | CA636453 | ATP13A2 | c.*6G>C (n.*6G>C) c.3247G>C (p.Ala1083Pro) n.1595G>C c.967G>C (p.Ala323Pro) c.3379G>C (p.Ala1127Pro) c.3376G>C (p.Ala1126Pro) c.3364G>C (p.Ala1122Pro) c.3352G>C (p.Ala1118Pro) c.3319G>C (p.Ala1107Pro) c.3262G>C (p.Ala1088Pro) c.3361G>C (p.Ala1121Pro) c.3337G>C (p.Ala1113Pro) c.3172G>C (p.Ala1058Pro) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.16986215C>T | CA338231821 | ATP13A2 | c.*6G>A (n.*6G>A) c.3247G>A (p.Ala1083Thr) n.1595G>A c.967G>A (p.Ala323Thr) c.3379G>A (p.Ala1127Thr) c.3376G>A (p.Ala1126Thr) c.3364G>A (p.Ala1122Thr) c.3352G>A (p.Ala1118Thr) c.3319G>A (p.Ala1107Thr) c.3262G>A (p.Ala1088Thr) c.3361G>A (p.Ala1121Thr) c.3337G>A (p.Ala1113Thr) c.3172G>A (p.Ala1058Thr) | |
| 1 | g.16986216C>A | CA338231822 | ATP13A2 | c.*5G>T (n.*5G>T) c.3246G>T (p.Gln1082His) n.1594G>T c.966G>T (p.Gln322His) c.3378G>T (p.Gln1126His) c.3375G>T (p.Gln1125His) c.3363G>T (p.Gln1121His) c.3351G>T (p.Gln1117His) c.3318G>T (p.Gln1106His) c.3261G>T (p.Gln1087His) c.3360G>T (p.Gln1120His) c.3336G>T (p.Gln1112His) c.3171G>T (p.Gln1057His) | |
| 1 | g.16986216C= | CA1156049182 | ATP13A2 | c.*5G= (n.*5G=) c.3246G= (p.Gln1082=) n.1594G= c.966G= (p.Gln322=) c.3378G= (p.Gln1126=) c.3375G= (p.Gln1125=) c.3363G= (p.Gln1121=) c.3351G= (p.Gln1117=) c.3318G= (p.Gln1106=) c.3261G= (p.Gln1087=) c.3360G= (p.Gln1120=) c.3336G= (p.Gln1112=) c.3171G= (p.Gln1057=) | |
| 1 | g.16986216C>G | CA338231823 | ATP13A2 | c.*5G>C (n.*5G>C) c.3246G>C (p.Gln1082His) n.1594G>C c.966G>C (p.Gln322His) c.3378G>C (p.Gln1126His) c.3375G>C (p.Gln1125His) c.3363G>C (p.Gln1121His) c.3351G>C (p.Gln1117His) c.3318G>C (p.Gln1106His) c.3261G>C (p.Gln1087His) c.3360G>C (p.Gln1120His) c.3336G>C (p.Gln1112His) c.3171G>C (p.Gln1057His) | |
| 1 | g.16986216C>T | CA18624582 | ATP13A2 | c.*5G>A (n.*5G>A) c.3246G>A (p.Gln1082=) n.1594G>A c.966G>A (p.Gln322=) c.3378G>A (p.Gln1126=) c.3375G>A (p.Gln1125=) c.3363G>A (p.Gln1121=) c.3351G>A (p.Gln1117=) c.3318G>A (p.Gln1106=) c.3261G>A (p.Gln1087=) c.3360G>A (p.Gln1120=) c.3336G>A (p.Gln1112=) c.3171G>A (p.Gln1057=) | dbSNP gnomAD v4 |
| 1 | g.16986217T>A | CA338231826 | ATP13A2 | c.*4A>T (n.*4A>T) c.3245A>T (p.Gln1082Leu) n.1593A>T c.965A>T (p.Gln322Leu) c.3377A>T (p.Gln1126Leu) c.3374A>T (p.Gln1125Leu) c.3362A>T (p.Gln1121Leu) c.3350A>T (p.Gln1117Leu) c.3317A>T (p.Gln1106Leu) c.3260A>T (p.Gln1087Leu) c.3359A>T (p.Gln1120Leu) c.3335A>T (p.Gln1112Leu) c.3170A>T (p.Gln1057Leu) | |
| 1 | g.16986217T>C | CA338231825 | ATP13A2 | c.*4A>G (n.*4A>G) c.3245A>G (p.Gln1082Arg) n.1593A>G c.965A>G (p.Gln322Arg) c.3377A>G (p.Gln1126Arg) c.3374A>G (p.Gln1125Arg) c.3362A>G (p.Gln1121Arg) c.3350A>G (p.Gln1117Arg) c.3317A>G (p.Gln1106Arg) c.3260A>G (p.Gln1087Arg) c.3359A>G (p.Gln1120Arg) c.3335A>G (p.Gln1112Arg) c.3170A>G (p.Gln1057Arg) | gnomAD v4 |
| 1 | g.16986217T>G | CA338231824 | ATP13A2 | c.*4A>C (n.*4A>C) c.3245A>C (p.Gln1082Pro) n.1593A>C c.965A>C (p.Gln322Pro) c.3377A>C (p.Gln1126Pro) c.3374A>C (p.Gln1125Pro) c.3362A>C (p.Gln1121Pro) c.3350A>C (p.Gln1117Pro) c.3317A>C (p.Gln1106Pro) c.3260A>C (p.Gln1087Pro) c.3359A>C (p.Gln1120Pro) c.3335A>C (p.Gln1112Pro) c.3170A>C (p.Gln1057Pro) | |
| 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) |