| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16986334C>A | CA338232502 | ATP13A2 | c.3430G>T (p.Ala1144Ser) c.3128G>T (p.Arg1043Leu) c.3415G>T (p.Ala1139Ser) n.1476G>T c.848G>T (p.Arg283Leu) c.3260G>T (p.Arg1087Leu) c.3257G>T (p.Arg1086Leu) c.3245G>T (p.Arg1082Leu) c.3233G>T (p.Arg1078Leu) c.3200G>T (p.Arg1067Leu) c.3143G>T (p.Arg1048Leu) c.3242G>T (p.Arg1081Leu) c.3218G>T (p.Arg1073Leu) c.3053G>T (p.Arg1018Leu) c.3412G>T (p.Ala1138Ser) c.3388G>T (p.Ala1130Ser) c.3385G>T (p.Ala1129Ser) c.3313G>T (p.Ala1105Ser) c.3298G>T (p.Ala1100Ser) c.3223G>T (p.Ala1075Ser) | |
| 1 | g.16986334C= | CA1142410591 | ATP13A2 | c.3430G= (p.Ala1144=) c.3128G= (p.Arg1043=) c.3415G= (p.Ala1139=) n.1476G= c.848G= (p.Arg283=) c.3260G= (p.Arg1087=) c.3257G= (p.Arg1086=) c.3245G= (p.Arg1082=) c.3233G= (p.Arg1078=) c.3200G= (p.Arg1067=) c.3143G= (p.Arg1048=) c.3242G= (p.Arg1081=) c.3218G= (p.Arg1073=) c.3053G= (p.Arg1018=) c.3412G= (p.Ala1138=) c.3388G= (p.Ala1130=) c.3385G= (p.Ala1129=) c.3313G= (p.Ala1105=) c.3298G= (p.Ala1100=) c.3223G= (p.Ala1075=) | |
| 1 | g.16986334C>G | CA338232504 | ATP13A2 | c.3430G>C (p.Ala1144Pro) c.3128G>C (p.Arg1043Pro) c.3415G>C (p.Ala1139Pro) n.1476G>C c.848G>C (p.Arg283Pro) c.3260G>C (p.Arg1087Pro) c.3257G>C (p.Arg1086Pro) c.3245G>C (p.Arg1082Pro) c.3233G>C (p.Arg1078Pro) c.3200G>C (p.Arg1067Pro) c.3143G>C (p.Arg1048Pro) c.3242G>C (p.Arg1081Pro) c.3218G>C (p.Arg1073Pro) c.3053G>C (p.Arg1018Pro) c.3412G>C (p.Ala1138Pro) c.3388G>C (p.Ala1130Pro) c.3385G>C (p.Ala1129Pro) c.3313G>C (p.Ala1105Pro) c.3298G>C (p.Ala1100Pro) c.3223G>C (p.Ala1075Pro) | dbSNP |
| 1 | g.16986334C>T | CA151961 | ATP13A2 | c.3430G>A (p.Ala1144Thr) c.3128G>A (p.Arg1043His) c.3415G>A (p.Ala1139Thr) n.1476G>A c.848G>A (p.Arg283His) c.3260G>A (p.Arg1087His) c.3257G>A (p.Arg1086His) c.3245G>A (p.Arg1082His) c.3233G>A (p.Arg1078His) c.3200G>A (p.Arg1067His) c.3143G>A (p.Arg1048His) c.3242G>A (p.Arg1081His) c.3218G>A (p.Arg1073His) c.3053G>A (p.Arg1018His) c.3412G>A (p.Ala1138Thr) c.3388G>A (p.Ala1130Thr) c.3385G>A (p.Ala1129Thr) c.3313G>A (p.Ala1105Thr) c.3298G>A (p.Ala1100Thr) c.3223G>A (p.Ala1075Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986335G>A | CA636486 | ATP13A2 | c.3429C>T (p.Pro1143=) c.3127C>T (p.Arg1043Cys) c.3414C>T (p.Pro1138=) n.1475C>T c.847C>T (p.Arg283Cys) c.3259C>T (p.Arg1087Cys) c.3256C>T (p.Arg1086Cys) c.3244C>T (p.Arg1082Cys) c.3232C>T (p.Arg1078Cys) c.3199C>T (p.Arg1067Cys) c.3142C>T (p.Arg1048Cys) c.3241C>T (p.Arg1081Cys) c.3217C>T (p.Arg1073Cys) c.3052C>T (p.Arg1018Cys) c.3411C>T (p.Pro1137=) c.3387C>T (p.Pro1129=) c.3384C>T (p.Pro1128=) c.3312C>T (p.Pro1104=) c.3297C>T (p.Pro1099=) c.3222C>T (p.Pro1074=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986335G>C | CA338232506 | ATP13A2 | c.3429C>G (p.Pro1143=) c.3127C>G (p.Arg1043Gly) c.3414C>G (p.Pro1138=) n.1475C>G c.847C>G (p.Arg283Gly) c.3259C>G (p.Arg1087Gly) c.3256C>G (p.Arg1086Gly) c.3244C>G (p.Arg1082Gly) c.3232C>G (p.Arg1078Gly) c.3199C>G (p.Arg1067Gly) c.3142C>G (p.Arg1048Gly) c.3241C>G (p.Arg1081Gly) c.3217C>G (p.Arg1073Gly) c.3052C>G (p.Arg1018Gly) c.3411C>G (p.Pro1137=) c.3387C>G (p.Pro1129=) c.3384C>G (p.Pro1128=) c.3312C>G (p.Pro1104=) c.3297C>G (p.Pro1099=) c.3222C>G (p.Pro1074=) | |
| 1 | g.16986335G= | CA1144209585 | ATP13A2 | c.3429C= (p.Pro1143=) c.3127C= (p.Arg1043=) c.3414C= (p.Pro1138=) n.1475C= c.847C= (p.Arg283=) c.3259C= (p.Arg1087=) c.3256C= (p.Arg1086=) c.3244C= (p.Arg1082=) c.3232C= (p.Arg1078=) c.3199C= (p.Arg1067=) c.3142C= (p.Arg1048=) c.3241C= (p.Arg1081=) c.3217C= (p.Arg1073=) c.3052C= (p.Arg1018=) c.3411C= (p.Pro1137=) c.3387C= (p.Pro1129=) c.3384C= (p.Pro1128=) c.3312C= (p.Pro1104=) c.3297C= (p.Pro1099=) c.3222C= (p.Pro1074=) | |
| 1 | g.16986335G>T | CA338232507 | ATP13A2 | c.3429C>A (p.Pro1143=) c.3127C>A (p.Arg1043Ser) c.3414C>A (p.Pro1138=) n.1475C>A c.847C>A (p.Arg283Ser) c.3259C>A (p.Arg1087Ser) c.3256C>A (p.Arg1086Ser) c.3244C>A (p.Arg1082Ser) c.3232C>A (p.Arg1078Ser) c.3199C>A (p.Arg1067Ser) c.3142C>A (p.Arg1048Ser) c.3241C>A (p.Arg1081Ser) c.3217C>A (p.Arg1073Ser) c.3052C>A (p.Arg1018Ser) c.3411C>A (p.Pro1137=) c.3387C>A (p.Pro1129=) c.3384C>A (p.Pro1128=) c.3312C>A (p.Pro1104=) c.3297C>A (p.Pro1099=) c.3222C>A (p.Pro1074=) | gnomAD v4 |
| 1 | g.16986336G>A | CA338232510 | ATP13A2 | c.3428C>T (p.Pro1143Leu) c.3126C>T (p.Pro1042=) c.3413C>T (p.Pro1138Leu) n.1474C>T c.846C>T (p.Pro282=) c.3258C>T (p.Pro1086=) c.3255C>T (p.Pro1085=) c.3243C>T (p.Pro1081=) c.3231C>T (p.Pro1077=) c.3198C>T (p.Pro1066=) c.3141C>T (p.Pro1047=) c.3240C>T (p.Pro1080=) c.3216C>T (p.Pro1072=) c.3051C>T (p.Pro1017=) c.3410C>T (p.Pro1137Leu) c.3386C>T (p.Pro1129Leu) c.3383C>T (p.Pro1128Leu) c.3311C>T (p.Pro1104Leu) c.3296C>T (p.Pro1099Leu) c.3221C>T (p.Pro1074Leu) | |
| 1 | g.16986336G>C | CA338232512 | ATP13A2 | c.3428C>G (p.Pro1143Arg) c.3126C>G (p.Pro1042=) c.3413C>G (p.Pro1138Arg) n.1474C>G c.846C>G (p.Pro282=) c.3258C>G (p.Pro1086=) c.3255C>G (p.Pro1085=) c.3243C>G (p.Pro1081=) c.3231C>G (p.Pro1077=) c.3198C>G (p.Pro1066=) c.3141C>G (p.Pro1047=) c.3240C>G (p.Pro1080=) c.3216C>G (p.Pro1072=) c.3051C>G (p.Pro1017=) c.3410C>G (p.Pro1137Arg) c.3386C>G (p.Pro1129Arg) c.3383C>G (p.Pro1128Arg) c.3311C>G (p.Pro1104Arg) c.3296C>G (p.Pro1099Arg) c.3221C>G (p.Pro1074Arg) | |
| 1 | g.16986336G>T | CA338232511 | ATP13A2 | c.3428C>A (p.Pro1143His) c.3126C>A (p.Pro1042=) c.3413C>A (p.Pro1138His) n.1474C>A c.846C>A (p.Pro282=) c.3258C>A (p.Pro1086=) c.3255C>A (p.Pro1085=) c.3243C>A (p.Pro1081=) c.3231C>A (p.Pro1077=) c.3198C>A (p.Pro1066=) c.3141C>A (p.Pro1047=) c.3240C>A (p.Pro1080=) c.3216C>A (p.Pro1072=) c.3051C>A (p.Pro1017=) c.3410C>A (p.Pro1137His) c.3386C>A (p.Pro1129His) c.3383C>A (p.Pro1128His) c.3311C>A (p.Pro1104His) c.3296C>A (p.Pro1099His) c.3221C>A (p.Pro1074His) | ClinVar gnomAD v4 |
| 1 | g.16986337G>A | CA338232514 | ATP13A2 | c.3427C>T (p.Pro1143Ser) c.3125C>T (p.Pro1042Leu) c.3412C>T (p.Pro1138Ser) n.1473C>T c.845C>T (p.Pro282Leu) c.3257C>T (p.Pro1086Leu) c.3254C>T (p.Pro1085Leu) c.3242C>T (p.Pro1081Leu) c.3230C>T (p.Pro1077Leu) c.3197C>T (p.Pro1066Leu) c.3140C>T (p.Pro1047Leu) c.3239C>T (p.Pro1080Leu) c.3215C>T (p.Pro1072Leu) c.3050C>T (p.Pro1017Leu) c.3409C>T (p.Pro1137Ser) c.3385C>T (p.Pro1129Ser) c.3382C>T (p.Pro1128Ser) c.3310C>T (p.Pro1104Ser) c.3295C>T (p.Pro1099Ser) c.3220C>T (p.Pro1074Ser) | |
| 1 | g.16986337G>C | CA338232517 | ATP13A2 | c.3427C>G (p.Pro1143Ala) c.3125C>G (p.Pro1042Arg) c.3412C>G (p.Pro1138Ala) n.1473C>G c.845C>G (p.Pro282Arg) c.3257C>G (p.Pro1086Arg) c.3254C>G (p.Pro1085Arg) c.3242C>G (p.Pro1081Arg) c.3230C>G (p.Pro1077Arg) c.3197C>G (p.Pro1066Arg) c.3140C>G (p.Pro1047Arg) c.3239C>G (p.Pro1080Arg) c.3215C>G (p.Pro1072Arg) c.3050C>G (p.Pro1017Arg) c.3409C>G (p.Pro1137Ala) c.3385C>G (p.Pro1129Ala) c.3382C>G (p.Pro1128Ala) c.3310C>G (p.Pro1104Ala) c.3295C>G (p.Pro1099Ala) c.3220C>G (p.Pro1074Ala) | |
| 1 | g.16986337G>T | CA338232516 | ATP13A2 | c.3427C>A (p.Pro1143Thr) c.3125C>A (p.Pro1042His) c.3412C>A (p.Pro1138Thr) n.1473C>A c.845C>A (p.Pro282His) c.3257C>A (p.Pro1086His) c.3254C>A (p.Pro1085His) c.3242C>A (p.Pro1081His) c.3230C>A (p.Pro1077His) c.3197C>A (p.Pro1066His) c.3140C>A (p.Pro1047His) c.3239C>A (p.Pro1080His) c.3215C>A (p.Pro1072His) c.3050C>A (p.Pro1017His) c.3409C>A (p.Pro1137Thr) c.3385C>A (p.Pro1129Thr) c.3382C>A (p.Pro1128Thr) c.3310C>A (p.Pro1104Thr) c.3295C>A (p.Pro1099Thr) c.3220C>A (p.Pro1074Thr) | gnomAD v4 |
| 1 | g.16986338G>A | CA338232518 | ATP13A2 | c.3426C>T (p.Leu1142=) c.3124C>T (p.Pro1042Ser) c.3411C>T (p.Leu1137=) n.1472C>T c.844C>T (p.Pro282Ser) c.3256C>T (p.Pro1086Ser) c.3253C>T (p.Pro1085Ser) c.3241C>T (p.Pro1081Ser) c.3229C>T (p.Pro1077Ser) c.3196C>T (p.Pro1066Ser) c.3139C>T (p.Pro1047Ser) c.3238C>T (p.Pro1080Ser) c.3214C>T (p.Pro1072Ser) c.3049C>T (p.Pro1017Ser) c.3408C>T (p.Leu1136=) c.3384C>T (p.Leu1128=) c.3381C>T (p.Leu1127=) c.3309C>T (p.Leu1103=) c.3294C>T (p.Leu1098=) c.3219C>T (p.Leu1073=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.16986338G>C | CA18624837 | ATP13A2 | c.3426C>G (p.Leu1142=) c.3124C>G (p.Pro1042Ala) c.3411C>G (p.Leu1137=) n.1472C>G c.844C>G (p.Pro282Ala) c.3256C>G (p.Pro1086Ala) c.3253C>G (p.Pro1085Ala) c.3241C>G (p.Pro1081Ala) c.3229C>G (p.Pro1077Ala) c.3196C>G (p.Pro1066Ala) c.3139C>G (p.Pro1047Ala) c.3238C>G (p.Pro1080Ala) c.3214C>G (p.Pro1072Ala) c.3049C>G (p.Pro1017Ala) c.3408C>G (p.Leu1136=) c.3384C>G (p.Leu1128=) c.3381C>G (p.Leu1127=) c.3309C>G (p.Leu1103=) c.3294C>G (p.Leu1098=) c.3219C>G (p.Leu1073=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986338G= | CA1156049587 | ATP13A2 | c.3426C= (p.Leu1142=) c.3124C= (p.Pro1042=) c.3411C= (p.Leu1137=) n.1472C= c.844C= (p.Pro282=) c.3256C= (p.Pro1086=) c.3253C= (p.Pro1085=) c.3241C= (p.Pro1081=) c.3229C= (p.Pro1077=) c.3196C= (p.Pro1066=) c.3139C= (p.Pro1047=) c.3238C= (p.Pro1080=) c.3214C= (p.Pro1072=) c.3049C= (p.Pro1017=) c.3408C= (p.Leu1136=) c.3384C= (p.Leu1128=) c.3381C= (p.Leu1127=) c.3309C= (p.Leu1103=) c.3294C= (p.Leu1098=) c.3219C= (p.Leu1073=) | |
| 1 | g.16986338G>T | CA338232519 | ATP13A2 | c.3426C>A (p.Leu1142=) c.3124C>A (p.Pro1042Thr) c.3411C>A (p.Leu1137=) n.1472C>A c.844C>A (p.Pro282Thr) c.3256C>A (p.Pro1086Thr) c.3253C>A (p.Pro1085Thr) c.3241C>A (p.Pro1081Thr) c.3229C>A (p.Pro1077Thr) c.3196C>A (p.Pro1066Thr) c.3139C>A (p.Pro1047Thr) c.3238C>A (p.Pro1080Thr) c.3214C>A (p.Pro1072Thr) c.3049C>A (p.Pro1017Thr) c.3408C>A (p.Leu1136=) c.3384C>A (p.Leu1128=) c.3381C>A (p.Leu1127=) c.3309C>A (p.Leu1103=) c.3294C>A (p.Leu1098=) c.3219C>A (p.Leu1073=) | ClinVar |
| 1 | g.16986339A= | CA1156049597 | ATP13A2 | c.3425T= (p.Leu1142=) c.3123T= (p.Pro1041=) c.3410T= (p.Leu1137=) n.1471T= c.843T= (p.Pro281=) c.3255T= (p.Pro1085=) c.3252T= (p.Pro1084=) c.3240T= (p.Pro1080=) c.3228T= (p.Pro1076=) c.3195T= (p.Pro1065=) c.3138T= (p.Pro1046=) c.3237T= (p.Pro1079=) c.3213T= (p.Pro1071=) c.3048T= (p.Pro1016=) c.3407T= (p.Leu1136=) c.3383T= (p.Leu1128=) c.3380T= (p.Leu1127=) c.3308T= (p.Leu1103=) c.3293T= (p.Leu1098=) c.3218T= (p.Leu1073=) | |
| 1 | g.16986339A>C | CA338232522 | ATP13A2 | c.3425T>G (p.Leu1142Arg) c.3123T>G (p.Pro1041=) c.3410T>G (p.Leu1137Arg) n.1471T>G c.843T>G (p.Pro281=) c.3255T>G (p.Pro1085=) c.3252T>G (p.Pro1084=) c.3240T>G (p.Pro1080=) c.3228T>G (p.Pro1076=) c.3195T>G (p.Pro1065=) c.3138T>G (p.Pro1046=) c.3237T>G (p.Pro1079=) c.3213T>G (p.Pro1071=) c.3048T>G (p.Pro1016=) c.3407T>G (p.Leu1136Arg) c.3383T>G (p.Leu1128Arg) c.3380T>G (p.Leu1127Arg) c.3308T>G (p.Leu1103Arg) c.3293T>G (p.Leu1098Arg) c.3218T>G (p.Leu1073Arg) | |
| 1 | g.16986339A>G | CA18624861 | ATP13A2 | c.3425T>C (p.Leu1142Pro) c.3123T>C (p.Pro1041=) c.3410T>C (p.Leu1137Pro) n.1471T>C c.843T>C (p.Pro281=) c.3255T>C (p.Pro1085=) c.3252T>C (p.Pro1084=) c.3240T>C (p.Pro1080=) c.3228T>C (p.Pro1076=) c.3195T>C (p.Pro1065=) c.3138T>C (p.Pro1046=) c.3237T>C (p.Pro1079=) c.3213T>C (p.Pro1071=) c.3048T>C (p.Pro1016=) c.3407T>C (p.Leu1136Pro) c.3383T>C (p.Leu1128Pro) c.3380T>C (p.Leu1127Pro) c.3308T>C (p.Leu1103Pro) c.3293T>C (p.Leu1098Pro) c.3218T>C (p.Leu1073Pro) | dbSNP |
| 1 | g.16986339A>T | CA338232524 | ATP13A2 | c.3425T>A (p.Leu1142His) c.3123T>A (p.Pro1041=) c.3410T>A (p.Leu1137His) n.1471T>A c.843T>A (p.Pro281=) c.3255T>A (p.Pro1085=) c.3252T>A (p.Pro1084=) c.3240T>A (p.Pro1080=) c.3228T>A (p.Pro1076=) c.3195T>A (p.Pro1065=) c.3138T>A (p.Pro1046=) c.3237T>A (p.Pro1079=) c.3213T>A (p.Pro1071=) c.3048T>A (p.Pro1016=) c.3407T>A (p.Leu1136His) c.3383T>A (p.Leu1128His) c.3380T>A (p.Leu1127His) c.3308T>A (p.Leu1103His) c.3293T>A (p.Leu1098His) c.3218T>A (p.Leu1073His) | |
| 1 | g.16986340G>A | CA338232526 | ATP13A2 | c.3424C>T (p.Leu1142Phe) c.3122C>T (p.Pro1041Leu) c.3409C>T (p.Leu1137Phe) n.1470C>T c.842C>T (p.Pro281Leu) c.3254C>T (p.Pro1085Leu) c.3251C>T (p.Pro1084Leu) c.3239C>T (p.Pro1080Leu) c.3227C>T (p.Pro1076Leu) c.3194C>T (p.Pro1065Leu) c.3137C>T (p.Pro1046Leu) c.3236C>T (p.Pro1079Leu) c.3212C>T (p.Pro1071Leu) c.3047C>T (p.Pro1016Leu) c.3406C>T (p.Leu1136Phe) c.3382C>T (p.Leu1128Phe) c.3379C>T (p.Leu1127Phe) c.3307C>T (p.Leu1103Phe) c.3292C>T (p.Leu1098Phe) c.3217C>T (p.Leu1073Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986340G>C | CA338232527 | ATP13A2 | c.3424C>G (p.Leu1142Val) c.3122C>G (p.Pro1041Arg) c.3409C>G (p.Leu1137Val) n.1470C>G c.842C>G (p.Pro281Arg) c.3254C>G (p.Pro1085Arg) c.3251C>G (p.Pro1084Arg) c.3239C>G (p.Pro1080Arg) c.3227C>G (p.Pro1076Arg) c.3194C>G (p.Pro1065Arg) c.3137C>G (p.Pro1046Arg) c.3236C>G (p.Pro1079Arg) c.3212C>G (p.Pro1071Arg) c.3047C>G (p.Pro1016Arg) c.3406C>G (p.Leu1136Val) c.3382C>G (p.Leu1128Val) c.3379C>G (p.Leu1127Val) c.3307C>G (p.Leu1103Val) c.3292C>G (p.Leu1098Val) c.3217C>G (p.Leu1073Val) | |
| 1 | g.16986340G= | CA1156049600 | ATP13A2 | c.3424C= (p.Leu1142=) c.3122C= (p.Pro1041=) c.3409C= (p.Leu1137=) n.1470C= c.842C= (p.Pro281=) c.3254C= (p.Pro1085=) c.3251C= (p.Pro1084=) c.3239C= (p.Pro1080=) c.3227C= (p.Pro1076=) c.3194C= (p.Pro1065=) c.3137C= (p.Pro1046=) c.3236C= (p.Pro1079=) c.3212C= (p.Pro1071=) c.3047C= (p.Pro1016=) c.3406C= (p.Leu1136=) c.3382C= (p.Leu1128=) c.3379C= (p.Leu1127=) c.3307C= (p.Leu1103=) c.3292C= (p.Leu1098=) c.3217C= (p.Leu1073=) | |
| 1 | g.16986340G>T | CA338232529 | ATP13A2 | c.3424C>A (p.Leu1142Ile) c.3122C>A (p.Pro1041His) c.3409C>A (p.Leu1137Ile) n.1470C>A c.842C>A (p.Pro281His) c.3254C>A (p.Pro1085His) c.3251C>A (p.Pro1084His) c.3239C>A (p.Pro1080His) c.3227C>A (p.Pro1076His) c.3194C>A (p.Pro1065His) c.3137C>A (p.Pro1046His) c.3236C>A (p.Pro1079His) c.3212C>A (p.Pro1071His) c.3047C>A (p.Pro1016His) c.3406C>A (p.Leu1136Ile) c.3382C>A (p.Leu1128Ile) c.3379C>A (p.Leu1127Ile) c.3307C>A (p.Leu1103Ile) c.3292C>A (p.Leu1098Ile) c.3217C>A (p.Leu1073Ile) | |
| 1 | g.16986341G>A | CA18624868 | ATP13A2 | c.3423C>T (p.Cys1141=) c.3121C>T (p.Pro1041Ser) c.3408C>T (p.Cys1136=) n.1469C>T c.841C>T (p.Pro281Ser) c.3253C>T (p.Pro1085Ser) c.3250C>T (p.Pro1084Ser) c.3238C>T (p.Pro1080Ser) c.3226C>T (p.Pro1076Ser) c.3193C>T (p.Pro1065Ser) c.3136C>T (p.Pro1046Ser) c.3235C>T (p.Pro1079Ser) c.3211C>T (p.Pro1071Ser) c.3046C>T (p.Pro1016Ser) c.3405C>T (p.Cys1135=) c.3381C>T (p.Cys1127=) c.3378C>T (p.Cys1126=) c.3306C>T (p.Cys1102=) c.3291C>T (p.Cys1097=) c.3216C>T (p.Cys1072=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986341G>C | CA338232531 | ATP13A2 | c.3423C>G (p.Cys1141Trp) c.3121C>G (p.Pro1041Ala) c.3408C>G (p.Cys1136Trp) n.1469C>G c.841C>G (p.Pro281Ala) c.3253C>G (p.Pro1085Ala) c.3250C>G (p.Pro1084Ala) c.3238C>G (p.Pro1080Ala) c.3226C>G (p.Pro1076Ala) c.3193C>G (p.Pro1065Ala) c.3136C>G (p.Pro1046Ala) c.3235C>G (p.Pro1079Ala) c.3211C>G (p.Pro1071Ala) c.3046C>G (p.Pro1016Ala) c.3405C>G (p.Cys1135Trp) c.3381C>G (p.Cys1127Trp) c.3378C>G (p.Cys1126Trp) c.3306C>G (p.Cys1102Trp) c.3291C>G (p.Cys1097Trp) c.3216C>G (p.Cys1072Trp) | |
| 1 | g.16986341G= | CA1156049604 | ATP13A2 | c.3423C= (p.Cys1141=) c.3121C= (p.Pro1041=) c.3408C= (p.Cys1136=) n.1469C= c.841C= (p.Pro281=) c.3253C= (p.Pro1085=) c.3250C= (p.Pro1084=) c.3238C= (p.Pro1080=) c.3226C= (p.Pro1076=) c.3193C= (p.Pro1065=) c.3136C= (p.Pro1046=) c.3235C= (p.Pro1079=) c.3211C= (p.Pro1071=) c.3046C= (p.Pro1016=) c.3405C= (p.Cys1135=) c.3381C= (p.Cys1127=) c.3378C= (p.Cys1126=) c.3306C= (p.Cys1102=) c.3291C= (p.Cys1097=) c.3216C= (p.Cys1072=) | |
| 1 | g.16986341G>T | CA338232533 | ATP13A2 | c.3423C>A (p.Cys1141Ter) c.3121C>A (p.Pro1041Thr) c.3408C>A (p.Cys1136Ter) n.1469C>A c.841C>A (p.Pro281Thr) c.3253C>A (p.Pro1085Thr) c.3250C>A (p.Pro1084Thr) c.3238C>A (p.Pro1080Thr) c.3226C>A (p.Pro1076Thr) c.3193C>A (p.Pro1065Thr) c.3136C>A (p.Pro1046Thr) c.3235C>A (p.Pro1079Thr) c.3211C>A (p.Pro1071Thr) c.3046C>A (p.Pro1016Thr) c.3405C>A (p.Cys1135Ter) c.3381C>A (p.Cys1127Ter) c.3378C>A (p.Cys1126Ter) c.3306C>A (p.Cys1102Ter) c.3291C>A (p.Cys1097Ter) c.3216C>A (p.Cys1072Ter) | dbSNP |
| 1 | g.16986342C>A | CA338232535 | ATP13A2 | c.3422G>T (p.Cys1141Phe) c.3120G>T (p.Val1040=) c.3407G>T (p.Cys1136Phe) n.1468G>T c.840G>T (p.Val280=) c.3252G>T (p.Val1084=) c.3249G>T (p.Val1083=) c.3237G>T (p.Val1079=) c.3225G>T (p.Val1075=) c.3192G>T (p.Val1064=) c.3135G>T (p.Val1045=) c.3234G>T (p.Val1078=) c.3210G>T (p.Val1070=) c.3045G>T (p.Val1015=) c.3404G>T (p.Cys1135Phe) c.3380G>T (p.Cys1127Phe) c.3377G>T (p.Cys1126Phe) c.3305G>T (p.Cys1102Phe) c.3290G>T (p.Cys1097Phe) c.3215G>T (p.Cys1072Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986342C= | CA1156049610 | ATP13A2 | c.3422G= (p.Cys1141=) c.3120G= (p.Val1040=) c.3407G= (p.Cys1136=) n.1468G= c.840G= (p.Val280=) c.3252G= (p.Val1084=) c.3249G= (p.Val1083=) c.3237G= (p.Val1079=) c.3225G= (p.Val1075=) c.3192G= (p.Val1064=) c.3135G= (p.Val1045=) c.3234G= (p.Val1078=) c.3210G= (p.Val1070=) c.3045G= (p.Val1015=) c.3404G= (p.Cys1135=) c.3380G= (p.Cys1127=) c.3377G= (p.Cys1126=) c.3305G= (p.Cys1102=) c.3290G= (p.Cys1097=) c.3215G= (p.Cys1072=) | |
| 1 | g.16986342C>G | CA338232536 | ATP13A2 | c.3422G>C (p.Cys1141Ser) c.3120G>C (p.Val1040=) c.3407G>C (p.Cys1136Ser) n.1468G>C c.840G>C (p.Val280=) c.3252G>C (p.Val1084=) c.3249G>C (p.Val1083=) c.3237G>C (p.Val1079=) c.3225G>C (p.Val1075=) c.3192G>C (p.Val1064=) c.3135G>C (p.Val1045=) c.3234G>C (p.Val1078=) c.3210G>C (p.Val1070=) c.3045G>C (p.Val1015=) c.3404G>C (p.Cys1135Ser) c.3380G>C (p.Cys1127Ser) c.3377G>C (p.Cys1126Ser) c.3305G>C (p.Cys1102Ser) c.3290G>C (p.Cys1097Ser) c.3215G>C (p.Cys1072Ser) | |
| 1 | g.16986342C>T | CA338232538 | ATP13A2 | c.3422G>A (p.Cys1141Tyr) c.3120G>A (p.Val1040=) c.3407G>A (p.Cys1136Tyr) n.1468G>A c.840G>A (p.Val280=) c.3252G>A (p.Val1084=) c.3249G>A (p.Val1083=) c.3237G>A (p.Val1079=) c.3225G>A (p.Val1075=) c.3192G>A (p.Val1064=) c.3135G>A (p.Val1045=) c.3234G>A (p.Val1078=) c.3210G>A (p.Val1070=) c.3045G>A (p.Val1015=) c.3404G>A (p.Cys1135Tyr) c.3380G>A (p.Cys1127Tyr) c.3377G>A (p.Cys1126Tyr) c.3305G>A (p.Cys1102Tyr) c.3290G>A (p.Cys1097Tyr) c.3215G>A (p.Cys1072Tyr) | gnomAD v4 |
| 1 | g.16986343A>C | CA338232539 | ATP13A2 | c.3421T>G (p.Cys1141Gly) c.3119T>G (p.Val1040Gly) c.3406T>G (p.Cys1136Gly) n.1467T>G c.839T>G (p.Val280Gly) c.3251T>G (p.Val1084Gly) c.3248T>G (p.Val1083Gly) c.3236T>G (p.Val1079Gly) c.3224T>G (p.Val1075Gly) c.3191T>G (p.Val1064Gly) c.3134T>G (p.Val1045Gly) c.3233T>G (p.Val1078Gly) c.3209T>G (p.Val1070Gly) c.3044T>G (p.Val1015Gly) c.3403T>G (p.Cys1135Gly) c.3379T>G (p.Cys1127Gly) c.3376T>G (p.Cys1126Gly) c.3304T>G (p.Cys1102Gly) c.3289T>G (p.Cys1097Gly) c.3214T>G (p.Cys1072Gly) | |
| 1 | g.16986343A>G | CA338232543 | ATP13A2 | c.3421T>C (p.Cys1141Arg) c.3119T>C (p.Val1040Ala) c.3406T>C (p.Cys1136Arg) n.1467T>C c.839T>C (p.Val280Ala) c.3251T>C (p.Val1084Ala) c.3248T>C (p.Val1083Ala) c.3236T>C (p.Val1079Ala) c.3224T>C (p.Val1075Ala) c.3191T>C (p.Val1064Ala) c.3134T>C (p.Val1045Ala) c.3233T>C (p.Val1078Ala) c.3209T>C (p.Val1070Ala) c.3044T>C (p.Val1015Ala) c.3403T>C (p.Cys1135Arg) c.3379T>C (p.Cys1127Arg) c.3376T>C (p.Cys1126Arg) c.3304T>C (p.Cys1102Arg) c.3289T>C (p.Cys1097Arg) c.3214T>C (p.Cys1072Arg) | |
| 1 | g.16986343A>T | CA338232541 | ATP13A2 | c.3421T>A (p.Cys1141Ser) c.3119T>A (p.Val1040Glu) c.3406T>A (p.Cys1136Ser) n.1467T>A c.839T>A (p.Val280Glu) c.3251T>A (p.Val1084Glu) c.3248T>A (p.Val1083Glu) c.3236T>A (p.Val1079Glu) c.3224T>A (p.Val1075Glu) c.3191T>A (p.Val1064Glu) c.3134T>A (p.Val1045Glu) c.3233T>A (p.Val1078Glu) c.3209T>A (p.Val1070Glu) c.3044T>A (p.Val1015Glu) c.3403T>A (p.Cys1135Ser) c.3379T>A (p.Cys1127Ser) c.3376T>A (p.Cys1126Ser) c.3304T>A (p.Cys1102Ser) c.3289T>A (p.Cys1097Ser) c.3214T>A (p.Cys1072Ser) | |
| 1 | g.16986344C>A | CA338232544 | ATP13A2 | c.3420G>T (p.Gln1140His) c.3118G>T (p.Val1040Leu) c.3405G>T (p.Gln1135His) n.1466G>T c.838G>T (p.Val280Leu) c.3250G>T (p.Val1084Leu) c.3247G>T (p.Val1083Leu) c.3235G>T (p.Val1079Leu) c.3223G>T (p.Val1075Leu) c.3190G>T (p.Val1064Leu) c.3133G>T (p.Val1045Leu) c.3232G>T (p.Val1078Leu) c.3208G>T (p.Val1070Leu) c.3043G>T (p.Val1015Leu) c.3402G>T (p.Gln1134His) c.3378G>T (p.Gln1126His) c.3375G>T (p.Gln1125His) c.3303G>T (p.Gln1101His) c.3288G>T (p.Gln1096His) c.3213G>T (p.Gln1071His) | |
| 1 | g.16986344C>G | CA338232545 | ATP13A2 | c.3420G>C (p.Gln1140His) c.3118G>C (p.Val1040Leu) c.3405G>C (p.Gln1135His) n.1466G>C c.838G>C (p.Val280Leu) c.3250G>C (p.Val1084Leu) c.3247G>C (p.Val1083Leu) c.3235G>C (p.Val1079Leu) c.3223G>C (p.Val1075Leu) c.3190G>C (p.Val1064Leu) c.3133G>C (p.Val1045Leu) c.3232G>C (p.Val1078Leu) c.3208G>C (p.Val1070Leu) c.3043G>C (p.Val1015Leu) c.3402G>C (p.Gln1134His) c.3378G>C (p.Gln1126His) c.3375G>C (p.Gln1125His) c.3303G>C (p.Gln1101His) c.3288G>C (p.Gln1096His) c.3213G>C (p.Gln1071His) | |
| 1 | g.16986344C>T | CA338232547 | ATP13A2 | c.3420G>A (p.Gln1140=) c.3118G>A (p.Val1040Met) c.3405G>A (p.Gln1135=) n.1466G>A c.838G>A (p.Val280Met) c.3250G>A (p.Val1084Met) c.3247G>A (p.Val1083Met) c.3235G>A (p.Val1079Met) c.3223G>A (p.Val1075Met) c.3190G>A (p.Val1064Met) c.3133G>A (p.Val1045Met) c.3232G>A (p.Val1078Met) c.3208G>A (p.Val1070Met) c.3043G>A (p.Val1015Met) c.3402G>A (p.Gln1134=) c.3378G>A (p.Gln1126=) c.3375G>A (p.Gln1125=) c.3303G>A (p.Gln1101=) c.3288G>A (p.Gln1096=) c.3213G>A (p.Gln1071=) | gnomAD v4 |
| 1 | g.16986345T>A | CA338232548 | ATP13A2 | c.3419A>T (p.Gln1140Leu) c.3117A>T (p.Pro1039=) c.3404A>T (p.Gln1135Leu) n.1465A>T c.837A>T (p.Pro279=) c.3249A>T (p.Pro1083=) c.3246A>T (p.Pro1082=) c.3234A>T (p.Pro1078=) c.3222A>T (p.Pro1074=) c.3189A>T (p.Pro1063=) c.3132A>T (p.Pro1044=) c.3231A>T (p.Pro1077=) c.3207A>T (p.Pro1069=) c.3042A>T (p.Pro1014=) c.3401A>T (p.Gln1134Leu) c.3377A>T (p.Gln1126Leu) c.3374A>T (p.Gln1125Leu) c.3302A>T (p.Gln1101Leu) c.3287A>T (p.Gln1096Leu) c.3212A>T (p.Gln1071Leu) | |
| 1 | g.16986345T>C | CA338232552 | ATP13A2 | c.3419A>G (p.Gln1140Arg) c.3117A>G (p.Pro1039=) c.3404A>G (p.Gln1135Arg) n.1465A>G c.837A>G (p.Pro279=) c.3249A>G (p.Pro1083=) c.3246A>G (p.Pro1082=) c.3234A>G (p.Pro1078=) c.3222A>G (p.Pro1074=) c.3189A>G (p.Pro1063=) c.3132A>G (p.Pro1044=) c.3231A>G (p.Pro1077=) c.3207A>G (p.Pro1069=) c.3042A>G (p.Pro1014=) c.3401A>G (p.Gln1134Arg) c.3377A>G (p.Gln1126Arg) c.3374A>G (p.Gln1125Arg) c.3302A>G (p.Gln1101Arg) c.3287A>G (p.Gln1096Arg) c.3212A>G (p.Gln1071Arg) | |
| 1 | g.16986345T>G | CA338232554 | ATP13A2 | c.3419A>C (p.Gln1140Pro) c.3117A>C (p.Pro1039=) c.3404A>C (p.Gln1135Pro) n.1465A>C c.837A>C (p.Pro279=) c.3249A>C (p.Pro1083=) c.3246A>C (p.Pro1082=) c.3234A>C (p.Pro1078=) c.3222A>C (p.Pro1074=) c.3189A>C (p.Pro1063=) c.3132A>C (p.Pro1044=) c.3231A>C (p.Pro1077=) c.3207A>C (p.Pro1069=) c.3042A>C (p.Pro1014=) c.3401A>C (p.Gln1134Pro) c.3377A>C (p.Gln1126Pro) c.3374A>C (p.Gln1125Pro) c.3302A>C (p.Gln1101Pro) c.3287A>C (p.Gln1096Pro) c.3212A>C (p.Gln1071Pro) | |
| 1 | g.16986346G>A | CA16043957 | ATP13A2 | c.3418C>T (p.Gln1140Ter) c.3116C>T (p.Pro1039Leu) c.3403C>T (p.Gln1135Ter) n.1464C>T c.836C>T (p.Pro279Leu) c.3248C>T (p.Pro1083Leu) c.3245C>T (p.Pro1082Leu) c.3233C>T (p.Pro1078Leu) c.3221C>T (p.Pro1074Leu) c.3188C>T (p.Pro1063Leu) c.3131C>T (p.Pro1044Leu) c.3230C>T (p.Pro1077Leu) c.3206C>T (p.Pro1069Leu) c.3041C>T (p.Pro1014Leu) c.3400C>T (p.Gln1134Ter) c.3376C>T (p.Gln1126Ter) c.3373C>T (p.Gln1125Ter) c.3301C>T (p.Gln1101Ter) c.3286C>T (p.Gln1096Ter) c.3211C>T (p.Gln1071Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.16986346G>C | CA338232558 | ATP13A2 | c.3418C>G (p.Gln1140Glu) c.3116C>G (p.Pro1039Arg) c.3403C>G (p.Gln1135Glu) n.1464C>G c.836C>G (p.Pro279Arg) c.3248C>G (p.Pro1083Arg) c.3245C>G (p.Pro1082Arg) c.3233C>G (p.Pro1078Arg) c.3221C>G (p.Pro1074Arg) c.3188C>G (p.Pro1063Arg) c.3131C>G (p.Pro1044Arg) c.3230C>G (p.Pro1077Arg) c.3206C>G (p.Pro1069Arg) c.3041C>G (p.Pro1014Arg) c.3400C>G (p.Gln1134Glu) c.3376C>G (p.Gln1126Glu) c.3373C>G (p.Gln1125Glu) c.3301C>G (p.Gln1101Glu) c.3286C>G (p.Gln1096Glu) c.3211C>G (p.Gln1071Glu) | |
| 1 | g.16986346G= | CA1156049617 | ATP13A2 | c.3418C= (p.Gln1140=) c.3116C= (p.Pro1039=) c.3403C= (p.Gln1135=) n.1464C= c.836C= (p.Pro279=) c.3248C= (p.Pro1083=) c.3245C= (p.Pro1082=) c.3233C= (p.Pro1078=) c.3221C= (p.Pro1074=) c.3188C= (p.Pro1063=) c.3131C= (p.Pro1044=) c.3230C= (p.Pro1077=) c.3206C= (p.Pro1069=) c.3041C= (p.Pro1014=) c.3400C= (p.Gln1134=) c.3376C= (p.Gln1126=) c.3373C= (p.Gln1125=) c.3301C= (p.Gln1101=) c.3286C= (p.Gln1096=) c.3211C= (p.Gln1071=) | |
| 1 | g.16986346G>T | CA338232560 | ATP13A2 | c.3418C>A (p.Gln1140Lys) c.3116C>A (p.Pro1039Gln) c.3403C>A (p.Gln1135Lys) n.1464C>A c.836C>A (p.Pro279Gln) c.3248C>A (p.Pro1083Gln) c.3245C>A (p.Pro1082Gln) c.3233C>A (p.Pro1078Gln) c.3221C>A (p.Pro1074Gln) c.3188C>A (p.Pro1063Gln) c.3131C>A (p.Pro1044Gln) c.3230C>A (p.Pro1077Gln) c.3206C>A (p.Pro1069Gln) c.3041C>A (p.Pro1014Gln) c.3400C>A (p.Gln1134Lys) c.3376C>A (p.Gln1126Lys) c.3373C>A (p.Gln1125Lys) c.3301C>A (p.Gln1101Lys) c.3286C>A (p.Gln1096Lys) c.3211C>A (p.Gln1071Lys) | |
| 1 | g.16986347G>A | CA338232567 | ATP13A2 | c.3417C>T (p.Asp1139=) c.3115C>T (p.Pro1039Ser) c.3402C>T (p.Asp1134=) n.1463C>T c.835C>T (p.Pro279Ser) c.3247C>T (p.Pro1083Ser) c.3244C>T (p.Pro1082Ser) c.3232C>T (p.Pro1078Ser) c.3220C>T (p.Pro1074Ser) c.3187C>T (p.Pro1063Ser) c.3130C>T (p.Pro1044Ser) c.3229C>T (p.Pro1077Ser) c.3205C>T (p.Pro1069Ser) c.3040C>T (p.Pro1014Ser) c.3399C>T (p.Asp1133=) c.3375C>T (p.Asp1125=) c.3372C>T (p.Asp1124=) c.3300C>T (p.Asp1100=) c.3285C>T (p.Asp1095=) c.3210C>T (p.Asp1070=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986347G>C | CA338232564 | ATP13A2 | c.3417C>G (p.Asp1139Glu) c.3115C>G (p.Pro1039Ala) c.3402C>G (p.Asp1134Glu) n.1463C>G c.835C>G (p.Pro279Ala) c.3247C>G (p.Pro1083Ala) c.3244C>G (p.Pro1082Ala) c.3232C>G (p.Pro1078Ala) c.3220C>G (p.Pro1074Ala) c.3187C>G (p.Pro1063Ala) c.3130C>G (p.Pro1044Ala) c.3229C>G (p.Pro1077Ala) c.3205C>G (p.Pro1069Ala) c.3040C>G (p.Pro1014Ala) c.3399C>G (p.Asp1133Glu) c.3375C>G (p.Asp1125Glu) c.3372C>G (p.Asp1124Glu) c.3300C>G (p.Asp1100Glu) c.3285C>G (p.Asp1095Glu) c.3210C>G (p.Asp1070Glu) | |
| 1 | g.16986347G= | CA1156049621 | ATP13A2 | c.3417C= (p.Asp1139=) c.3115C= (p.Pro1039=) c.3402C= (p.Asp1134=) n.1463C= c.835C= (p.Pro279=) c.3247C= (p.Pro1083=) c.3244C= (p.Pro1082=) c.3232C= (p.Pro1078=) c.3220C= (p.Pro1074=) c.3187C= (p.Pro1063=) c.3130C= (p.Pro1044=) c.3229C= (p.Pro1077=) c.3205C= (p.Pro1069=) c.3040C= (p.Pro1014=) c.3399C= (p.Asp1133=) c.3375C= (p.Asp1125=) c.3372C= (p.Asp1124=) c.3300C= (p.Asp1100=) c.3285C= (p.Asp1095=) c.3210C= (p.Asp1070=) |