UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 1 | g.16986347G>T | CA338232562 | ATP13A2 | c.3417C>A (p.Asp1139Glu) c.3115C>A (p.Pro1039Thr) c.3402C>A (p.Asp1134Glu) n.1463C>A c.835C>A (p.Pro279Thr) c.3247C>A (p.Pro1083Thr) c.3244C>A (p.Pro1082Thr) c.3232C>A (p.Pro1078Thr) c.3220C>A (p.Pro1074Thr) c.3187C>A (p.Pro1063Thr) c.3130C>A (p.Pro1044Thr) c.3229C>A (p.Pro1077Thr) c.3205C>A (p.Pro1069Thr) c.3040C>A (p.Pro1014Thr) c.3399C>A (p.Asp1133Glu) c.3375C>A (p.Asp1125Glu) c.3372C>A (p.Asp1124Glu) c.3300C>A (p.Asp1100Glu) c.3285C>A (p.Asp1095Glu) c.3210C>A (p.Asp1070Glu) | |
| 1 | g.16986348T>A | CA338232570 | ATP13A2 | c.3416A>T (p.Asp1139Val) c.3114A>T (p.Arg1038Ser) c.3401A>T (p.Asp1134Val) n.1462A>T c.834A>T (p.Arg278Ser) c.3246A>T (p.Arg1082Ser) c.3243A>T (p.Arg1081Ser) c.3231A>T (p.Arg1077Ser) c.3219A>T (p.Arg1073Ser) c.3186A>T (p.Arg1062Ser) c.3129A>T (p.Arg1043Ser) c.3228A>T (p.Arg1076Ser) c.3204A>T (p.Arg1068Ser) c.3039A>T (p.Arg1013Ser) c.3398A>T (p.Asp1133Val) c.3374A>T (p.Asp1125Val) c.3371A>T (p.Asp1124Val) c.3299A>T (p.Asp1100Val) c.3284A>T (p.Asp1095Val) c.3209A>T (p.Asp1070Val) | |
| 1 | g.16986348T>C | CA338232571 | ATP13A2 | c.3416A>G (p.Asp1139Gly) c.3114A>G (p.Arg1038=) c.3401A>G (p.Asp1134Gly) n.1462A>G c.834A>G (p.Arg278=) c.3246A>G (p.Arg1082=) c.3243A>G (p.Arg1081=) c.3231A>G (p.Arg1077=) c.3219A>G (p.Arg1073=) c.3186A>G (p.Arg1062=) c.3129A>G (p.Arg1043=) c.3228A>G (p.Arg1076=) c.3204A>G (p.Arg1068=) c.3039A>G (p.Arg1013=) c.3398A>G (p.Asp1133Gly) c.3374A>G (p.Asp1125Gly) c.3371A>G (p.Asp1124Gly) c.3299A>G (p.Asp1100Gly) c.3284A>G (p.Asp1095Gly) c.3209A>G (p.Asp1070Gly) | |
| 1 | g.16986348T>G | CA338232572 | ATP13A2 | c.3416A>C (p.Asp1139Ala) c.3114A>C (p.Arg1038Ser) c.3401A>C (p.Asp1134Ala) n.1462A>C c.834A>C (p.Arg278Ser) c.3246A>C (p.Arg1082Ser) c.3243A>C (p.Arg1081Ser) c.3231A>C (p.Arg1077Ser) c.3219A>C (p.Arg1073Ser) c.3186A>C (p.Arg1062Ser) c.3129A>C (p.Arg1043Ser) c.3228A>C (p.Arg1076Ser) c.3204A>C (p.Arg1068Ser) c.3039A>C (p.Arg1013Ser) c.3398A>C (p.Asp1133Ala) c.3374A>C (p.Asp1125Ala) c.3371A>C (p.Asp1124Ala) c.3299A>C (p.Asp1100Ala) c.3284A>C (p.Asp1095Ala) c.3209A>C (p.Asp1070Ala) | |
| 1 | g.16986349C>A | CA338232573 | ATP13A2 | c.3415G>T (p.Asp1139Tyr) c.3113G>T (p.Arg1038Ile) c.3400G>T (p.Asp1134Tyr) n.1461G>T c.833G>T (p.Arg278Ile) c.3245G>T (p.Arg1082Ile) c.3242G>T (p.Arg1081Ile) c.3230G>T (p.Arg1077Ile) c.3218G>T (p.Arg1073Ile) c.3185G>T (p.Arg1062Ile) c.3128G>T (p.Arg1043Ile) c.3227G>T (p.Arg1076Ile) c.3203G>T (p.Arg1068Ile) c.3038G>T (p.Arg1013Ile) c.3397G>T (p.Asp1133Tyr) c.3373G>T (p.Asp1125Tyr) c.3370G>T (p.Asp1124Tyr) c.3298G>T (p.Asp1100Tyr) c.3283G>T (p.Asp1095Tyr) c.3208G>T (p.Asp1070Tyr) | |
| 1 | g.16986349C>G | CA338232574 | ATP13A2 | c.3415G>C (p.Asp1139His) c.3113G>C (p.Arg1038Thr) c.3400G>C (p.Asp1134His) n.1461G>C c.833G>C (p.Arg278Thr) c.3245G>C (p.Arg1082Thr) c.3242G>C (p.Arg1081Thr) c.3230G>C (p.Arg1077Thr) c.3218G>C (p.Arg1073Thr) c.3185G>C (p.Arg1062Thr) c.3128G>C (p.Arg1043Thr) c.3227G>C (p.Arg1076Thr) c.3203G>C (p.Arg1068Thr) c.3038G>C (p.Arg1013Thr) c.3397G>C (p.Asp1133His) c.3373G>C (p.Asp1125His) c.3370G>C (p.Asp1124His) c.3298G>C (p.Asp1100His) c.3283G>C (p.Asp1095His) c.3208G>C (p.Asp1070His) | |
| 1 | g.16986349C>T | CA338232575 | ATP13A2 | c.3415G>A (p.Asp1139Asn) c.3113G>A (p.Arg1038Lys) c.3400G>A (p.Asp1134Asn) n.1461G>A c.833G>A (p.Arg278Lys) c.3245G>A (p.Arg1082Lys) c.3242G>A (p.Arg1081Lys) c.3230G>A (p.Arg1077Lys) c.3218G>A (p.Arg1073Lys) c.3185G>A (p.Arg1062Lys) c.3128G>A (p.Arg1043Lys) c.3227G>A (p.Arg1076Lys) c.3203G>A (p.Arg1068Lys) c.3038G>A (p.Arg1013Lys) c.3397G>A (p.Asp1133Asn) c.3373G>A (p.Asp1125Asn) c.3370G>A (p.Asp1124Asn) c.3298G>A (p.Asp1100Asn) c.3283G>A (p.Asp1095Asn) c.3208G>A (p.Asp1070Asn) | |
| 1 | g.16986350T>A | CA338232576 | ATP13A2 | c.3414A>T (p.Leu1138=) c.3112A>T (p.Arg1038Ter) c.3399A>T (p.Leu1133=) n.1460A>T c.832A>T (p.Arg278Ter) c.3244A>T (p.Arg1082Ter) c.3241A>T (p.Arg1081Ter) c.3229A>T (p.Arg1077Ter) c.3217A>T (p.Arg1073Ter) c.3184A>T (p.Arg1062Ter) c.3127A>T (p.Arg1043Ter) c.3226A>T (p.Arg1076Ter) c.3202A>T (p.Arg1068Ter) c.3037A>T (p.Arg1013Ter) c.3396A>T (p.Leu1132=) c.3372A>T (p.Leu1124=) c.3369A>T (p.Leu1123=) c.3297A>T (p.Leu1099=) c.3282A>T (p.Leu1094=) c.3207A>T (p.Leu1069=) | |
| 1 | g.16986350T>C | CA338232578 | ATP13A2 | c.3414A>G (p.Leu1138=) c.3112A>G (p.Arg1038Gly) c.3399A>G (p.Leu1133=) n.1460A>G c.832A>G (p.Arg278Gly) c.3244A>G (p.Arg1082Gly) c.3241A>G (p.Arg1081Gly) c.3229A>G (p.Arg1077Gly) c.3217A>G (p.Arg1073Gly) c.3184A>G (p.Arg1062Gly) c.3127A>G (p.Arg1043Gly) c.3226A>G (p.Arg1076Gly) c.3202A>G (p.Arg1068Gly) c.3037A>G (p.Arg1013Gly) c.3396A>G (p.Leu1132=) c.3372A>G (p.Leu1124=) c.3369A>G (p.Leu1123=) c.3297A>G (p.Leu1099=) c.3282A>G (p.Leu1094=) c.3207A>G (p.Leu1069=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16986350T>G | CA416093527 | ATP13A2 | c.3414A>C (p.Leu1138=) c.3112A>C (p.Arg1038=) c.3399A>C (p.Leu1133=) n.1460A>C c.832A>C (p.Arg278=) c.3244A>C (p.Arg1082=) c.3241A>C (p.Arg1081=) c.3229A>C (p.Arg1077=) c.3217A>C (p.Arg1073=) c.3184A>C (p.Arg1062=) c.3127A>C (p.Arg1043=) c.3226A>C (p.Arg1076=) c.3202A>C (p.Arg1068=) c.3037A>C (p.Arg1013=) c.3396A>C (p.Leu1132=) c.3372A>C (p.Leu1124=) c.3369A>C (p.Leu1123=) c.3297A>C (p.Leu1099=) c.3282A>C (p.Leu1094=) c.3207A>C (p.Leu1069=) | |
| 1 | g.16986350T= | CA1156049625 | ATP13A2 | c.3414A= (p.Leu1138=) c.3112A= (p.Arg1038=) c.3399A= (p.Leu1133=) n.1460A= c.832A= (p.Arg278=) c.3244A= (p.Arg1082=) c.3241A= (p.Arg1081=) c.3229A= (p.Arg1077=) c.3217A= (p.Arg1073=) c.3184A= (p.Arg1062=) c.3127A= (p.Arg1043=) c.3226A= (p.Arg1076=) c.3202A= (p.Arg1068=) c.3037A= (p.Arg1013=) c.3396A= (p.Leu1132=) c.3372A= (p.Leu1124=) c.3369A= (p.Leu1123=) c.3297A= (p.Leu1099=) c.3282A= (p.Leu1094=) c.3207A= (p.Leu1069=) | |
| 1 | g.16986351A>C | CA338232580 | ATP13A2 | c.3413T>G (p.Leu1138Arg) c.3111T>G (p.Ala1037=) c.3398T>G (p.Leu1133Arg) n.1459T>G c.831T>G (p.Ala277=) c.3243T>G (p.Ala1081=) c.3240T>G (p.Ala1080=) c.3228T>G (p.Ala1076=) c.3216T>G (p.Ala1072=) c.3183T>G (p.Ala1061=) c.3126T>G (p.Ala1042=) c.3225T>G (p.Ala1075=) c.3201T>G (p.Ala1067=) c.3036T>G (p.Ala1012=) c.3395T>G (p.Leu1132Arg) c.3371T>G (p.Leu1124Arg) c.3368T>G (p.Leu1123Arg) c.3296T>G (p.Leu1099Arg) c.3281T>G (p.Leu1094Arg) c.3206T>G (p.Leu1069Arg) | |
| 1 | g.16986351A>G | CA338232582 | ATP13A2 | c.3413T>C (p.Leu1138Pro) c.3111T>C (p.Ala1037=) c.3398T>C (p.Leu1133Pro) n.1459T>C c.831T>C (p.Ala277=) c.3243T>C (p.Ala1081=) c.3240T>C (p.Ala1080=) c.3228T>C (p.Ala1076=) c.3216T>C (p.Ala1072=) c.3183T>C (p.Ala1061=) c.3126T>C (p.Ala1042=) c.3225T>C (p.Ala1075=) c.3201T>C (p.Ala1067=) c.3036T>C (p.Ala1012=) c.3395T>C (p.Leu1132Pro) c.3371T>C (p.Leu1124Pro) c.3368T>C (p.Leu1123Pro) c.3296T>C (p.Leu1099Pro) c.3281T>C (p.Leu1094Pro) c.3206T>C (p.Leu1069Pro) | gnomAD v4 |
| 1 | g.16986351A>T | CA338232583 | ATP13A2 | c.3413T>A (p.Leu1138Gln) c.3111T>A (p.Ala1037=) c.3398T>A (p.Leu1133Gln) n.1459T>A c.831T>A (p.Ala277=) c.3243T>A (p.Ala1081=) c.3240T>A (p.Ala1080=) c.3228T>A (p.Ala1076=) c.3216T>A (p.Ala1072=) c.3183T>A (p.Ala1061=) c.3126T>A (p.Ala1042=) c.3225T>A (p.Ala1075=) c.3201T>A (p.Ala1067=) c.3036T>A (p.Ala1012=) c.3395T>A (p.Leu1132Gln) c.3371T>A (p.Leu1124Gln) c.3368T>A (p.Leu1123Gln) c.3296T>A (p.Leu1099Gln) c.3281T>A (p.Leu1094Gln) c.3206T>A (p.Leu1069Gln) | |
| 1 | g.16986352G>A | CA338232587 | ATP13A2 | c.3412C>T (p.Leu1138=) c.3110C>T (p.Ala1037Val) c.3397C>T (p.Leu1133=) n.1458C>T c.830C>T (p.Ala277Val) c.3242C>T (p.Ala1081Val) c.3239C>T (p.Ala1080Val) c.3227C>T (p.Ala1076Val) c.3215C>T (p.Ala1072Val) c.3182C>T (p.Ala1061Val) c.3125C>T (p.Ala1042Val) c.3224C>T (p.Ala1075Val) c.3200C>T (p.Ala1067Val) c.3035C>T (p.Ala1012Val) c.3394C>T (p.Leu1132=) c.3370C>T (p.Leu1124=) c.3367C>T (p.Leu1123=) c.3295C>T (p.Leu1099=) c.3280C>T (p.Leu1094=) c.3205C>T (p.Leu1069=) | |
| 1 | g.16986352G>C | CA338232586 | ATP13A2 | c.3412C>G (p.Leu1138Val) c.3110C>G (p.Ala1037Gly) c.3397C>G (p.Leu1133Val) n.1458C>G c.830C>G (p.Ala277Gly) c.3242C>G (p.Ala1081Gly) c.3239C>G (p.Ala1080Gly) c.3227C>G (p.Ala1076Gly) c.3215C>G (p.Ala1072Gly) c.3182C>G (p.Ala1061Gly) c.3125C>G (p.Ala1042Gly) c.3224C>G (p.Ala1075Gly) c.3200C>G (p.Ala1067Gly) c.3035C>G (p.Ala1012Gly) c.3394C>G (p.Leu1132Val) c.3370C>G (p.Leu1124Val) c.3367C>G (p.Leu1123Val) c.3295C>G (p.Leu1099Val) c.3280C>G (p.Leu1094Val) c.3205C>G (p.Leu1069Val) | |
| 1 | g.16986352G= | CA1156049627 | ATP13A2 | c.3412C= (p.Leu1138=) c.3110C= (p.Ala1037=) c.3397C= (p.Leu1133=) n.1458C= c.830C= (p.Ala277=) c.3242C= (p.Ala1081=) c.3239C= (p.Ala1080=) c.3227C= (p.Ala1076=) c.3215C= (p.Ala1072=) c.3182C= (p.Ala1061=) c.3125C= (p.Ala1042=) c.3224C= (p.Ala1075=) c.3200C= (p.Ala1067=) c.3035C= (p.Ala1012=) c.3394C= (p.Leu1132=) c.3370C= (p.Leu1124=) c.3367C= (p.Leu1123=) c.3295C= (p.Leu1099=) c.3280C= (p.Leu1094=) c.3205C= (p.Leu1069=) | |
| 1 | g.16986352G>T | CA338232585 | ATP13A2 | c.3412C>A (p.Leu1138Ile) c.3110C>A (p.Ala1037Asp) c.3397C>A (p.Leu1133Ile) n.1458C>A c.830C>A (p.Ala277Asp) c.3242C>A (p.Ala1081Asp) c.3239C>A (p.Ala1080Asp) c.3227C>A (p.Ala1076Asp) c.3215C>A (p.Ala1072Asp) c.3182C>A (p.Ala1061Asp) c.3125C>A (p.Ala1042Asp) c.3224C>A (p.Ala1075Asp) c.3200C>A (p.Ala1067Asp) c.3035C>A (p.Ala1012Asp) c.3394C>A (p.Leu1132Ile) c.3370C>A (p.Leu1124Ile) c.3367C>A (p.Leu1123Ile) c.3295C>A (p.Leu1099Ile) c.3280C>A (p.Leu1094Ile) c.3205C>A (p.Leu1069Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.16986353C>A | CA338232589 | ATP13A2 | c.3411G>T (p.Val1137=) c.3109G>T (p.Ala1037Ser) c.3396G>T (p.Val1132=) n.1457G>T c.829G>T (p.Ala277Ser) c.3241G>T (p.Ala1081Ser) c.3238G>T (p.Ala1080Ser) c.3226G>T (p.Ala1076Ser) c.3214G>T (p.Ala1072Ser) c.3181G>T (p.Ala1061Ser) c.3124G>T (p.Ala1042Ser) c.3223G>T (p.Ala1075Ser) c.3199G>T (p.Ala1067Ser) c.3034G>T (p.Ala1012Ser) c.3393G>T (p.Val1131=) c.3369G>T (p.Val1123=) c.3366G>T (p.Val1122=) c.3294G>T (p.Val1098=) c.3279G>T (p.Val1093=) c.3204G>T (p.Val1068=) | |
| 1 | g.16986353C>G | CA338232591 | ATP13A2 | c.3411G>C (p.Val1137=) c.3109G>C (p.Ala1037Pro) c.3396G>C (p.Val1132=) n.1457G>C c.829G>C (p.Ala277Pro) c.3241G>C (p.Ala1081Pro) c.3238G>C (p.Ala1080Pro) c.3226G>C (p.Ala1076Pro) c.3214G>C (p.Ala1072Pro) c.3181G>C (p.Ala1061Pro) c.3124G>C (p.Ala1042Pro) c.3223G>C (p.Ala1075Pro) c.3199G>C (p.Ala1067Pro) c.3034G>C (p.Ala1012Pro) c.3393G>C (p.Val1131=) c.3369G>C (p.Val1123=) c.3366G>C (p.Val1122=) c.3294G>C (p.Val1098=) c.3279G>C (p.Val1093=) c.3204G>C (p.Val1068=) | ClinVar dbSNP |
| 1 | g.16986353C>T | CA338232593 | ATP13A2 | c.3411G>A (p.Val1137=) c.3109G>A (p.Ala1037Thr) c.3396G>A (p.Val1132=) n.1457G>A c.829G>A (p.Ala277Thr) c.3241G>A (p.Ala1081Thr) c.3238G>A (p.Ala1080Thr) c.3226G>A (p.Ala1076Thr) c.3214G>A (p.Ala1072Thr) c.3181G>A (p.Ala1061Thr) c.3124G>A (p.Ala1042Thr) c.3223G>A (p.Ala1075Thr) c.3199G>A (p.Ala1067Thr) c.3034G>A (p.Ala1012Thr) c.3393G>A (p.Val1131=) c.3369G>A (p.Val1123=) c.3366G>A (p.Val1122=) c.3294G>A (p.Val1098=) c.3279G>A (p.Val1093=) c.3204G>A (p.Val1068=) | |
| 1 | g.16986354A>C | CA338232594 | ATP13A2 | c.3410T>G (p.Val1137Gly) c.3108T>G (p.Arg1036=) c.3395T>G (p.Val1132Gly) n.1456T>G c.828T>G (p.Arg276=) c.3240T>G (p.Arg1080=) c.3237T>G (p.Arg1079=) c.3225T>G (p.Arg1075=) c.3213T>G (p.Arg1071=) c.3180T>G (p.Arg1060=) c.3123T>G (p.Arg1041=) c.3222T>G (p.Arg1074=) c.3198T>G (p.Arg1066=) c.3033T>G (p.Arg1011=) c.3392T>G (p.Val1131Gly) c.3368T>G (p.Val1123Gly) c.3365T>G (p.Val1122Gly) c.3293T>G (p.Val1098Gly) c.3278T>G (p.Val1093Gly) c.3203T>G (p.Val1068Gly) |