Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.16986034G>A | CA338230484 | ATP13A2 | c.*187C>T (n.*187C>T) c.3428C>T (p.Pro1143Leu) n.1776C>T c.1148C>T (p.Pro383Leu) c.3560C>T (p.Pro1187Leu) c.3557C>T (p.Pro1186Leu) c.3545C>T (p.Pro1182Leu) c.3533C>T (p.Pro1178Leu) c.3500C>T (p.Pro1167Leu) c.3443C>T (p.Pro1148Leu) c.3542C>T (p.Pro1181Leu) c.3518C>T (p.Pro1173Leu) c.3353C>T (p.Pro1118Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986034G>C | CA338230485 | ATP13A2 | c.*187C>G (n.*187C>G) c.3428C>G (p.Pro1143Arg) n.1776C>G c.1148C>G (p.Pro383Arg) c.3560C>G (p.Pro1187Arg) c.3557C>G (p.Pro1186Arg) c.3545C>G (p.Pro1182Arg) c.3533C>G (p.Pro1178Arg) c.3500C>G (p.Pro1167Arg) c.3443C>G (p.Pro1148Arg) c.3542C>G (p.Pro1181Arg) c.3518C>G (p.Pro1173Arg) c.3353C>G (p.Pro1118Arg) | |
1 | g.16986034G= | CA1156048666 | ATP13A2 | c.*187C= (n.*187C=) c.3428C= (p.Pro1143=) n.1776C= c.1148C= (p.Pro383=) c.3560C= (p.Pro1187=) c.3557C= (p.Pro1186=) c.3545C= (p.Pro1182=) c.3533C= (p.Pro1178=) c.3500C= (p.Pro1167=) c.3443C= (p.Pro1148=) c.3542C= (p.Pro1181=) c.3518C= (p.Pro1173=) c.3353C= (p.Pro1118=) | |
1 | g.16986034G>T | CA338230487 | ATP13A2 | c.*187C>A (n.*187C>A) c.3428C>A (p.Pro1143Gln) n.1776C>A c.1148C>A (p.Pro383Gln) c.3560C>A (p.Pro1187Gln) c.3557C>A (p.Pro1186Gln) c.3545C>A (p.Pro1182Gln) c.3533C>A (p.Pro1178Gln) c.3500C>A (p.Pro1167Gln) c.3443C>A (p.Pro1148Gln) c.3542C>A (p.Pro1181Gln) c.3518C>A (p.Pro1173Gln) c.3353C>A (p.Pro1118Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986035G>A | CA338230488 | ATP13A2 | c.*186C>T (n.*186C>T) c.3427C>T (p.Pro1143Ser) n.1775C>T c.1147C>T (p.Pro383Ser) c.3559C>T (p.Pro1187Ser) c.3556C>T (p.Pro1186Ser) c.3544C>T (p.Pro1182Ser) c.3532C>T (p.Pro1178Ser) c.3499C>T (p.Pro1167Ser) c.3442C>T (p.Pro1148Ser) c.3541C>T (p.Pro1181Ser) c.3517C>T (p.Pro1173Ser) c.3352C>T (p.Pro1118Ser) | |
1 | g.16986035G>C | CA338230490 | ATP13A2 | c.*186C>G (n.*186C>G) c.3427C>G (p.Pro1143Ala) n.1775C>G c.1147C>G (p.Pro383Ala) c.3559C>G (p.Pro1187Ala) c.3556C>G (p.Pro1186Ala) c.3544C>G (p.Pro1182Ala) c.3532C>G (p.Pro1178Ala) c.3499C>G (p.Pro1167Ala) c.3442C>G (p.Pro1148Ala) c.3541C>G (p.Pro1181Ala) c.3517C>G (p.Pro1173Ala) c.3352C>G (p.Pro1118Ala) | |
1 | g.16986035G>T | CA338230491 | ATP13A2 | c.*186C>A (n.*186C>A) c.3427C>A (p.Pro1143Thr) n.1775C>A c.1147C>A (p.Pro383Thr) c.3559C>A (p.Pro1187Thr) c.3556C>A (p.Pro1186Thr) c.3544C>A (p.Pro1182Thr) c.3532C>A (p.Pro1178Thr) c.3499C>A (p.Pro1167Thr) c.3442C>A (p.Pro1148Thr) c.3541C>A (p.Pro1181Thr) c.3517C>A (p.Pro1173Thr) c.3352C>A (p.Pro1118Thr) | |
1 | g.16986036G>A | CA645512527 | ATP13A2 | c.*185C>T (n.*185C>T) c.3426C>T (p.Ile1142=) n.1774C>T c.1146C>T (p.Ile382=) c.3558C>T (p.Ile1186=) c.3555C>T (p.Ile1185=) c.3543C>T (p.Ile1181=) c.3531C>T (p.Ile1177=) c.3498C>T (p.Ile1166=) c.3441C>T (p.Ile1147=) c.3540C>T (p.Ile1180=) c.3516C>T (p.Ile1172=) c.3351C>T (p.Ile1117=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.16986036G>C | CA338230493 | ATP13A2 | c.*185C>G (n.*185C>G) c.3426C>G (p.Ile1142Met) n.1774C>G c.1146C>G (p.Ile382Met) c.3558C>G (p.Ile1186Met) c.3555C>G (p.Ile1185Met) c.3543C>G (p.Ile1181Met) c.3531C>G (p.Ile1177Met) c.3498C>G (p.Ile1166Met) c.3441C>G (p.Ile1147Met) c.3540C>G (p.Ile1180Met) c.3516C>G (p.Ile1172Met) c.3351C>G (p.Ile1117Met) | |
1 | g.16986036G= | CA1156048674 | ATP13A2 | c.*185C= (n.*185C=) c.3426C= (p.Ile1142=) n.1774C= c.1146C= (p.Ile382=) c.3558C= (p.Ile1186=) c.3555C= (p.Ile1185=) c.3543C= (p.Ile1181=) c.3531C= (p.Ile1177=) c.3498C= (p.Ile1166=) c.3441C= (p.Ile1147=) c.3540C= (p.Ile1180=) c.3516C= (p.Ile1172=) c.3351C= (p.Ile1117=) | |
1 | g.16986037A>C | CA338230496 | ATP13A2 | c.*184T>G (n.*184T>G) c.3425T>G (p.Ile1142Ser) n.1773T>G c.1145T>G (p.Ile382Ser) c.3557T>G (p.Ile1186Ser) c.3554T>G (p.Ile1185Ser) c.3542T>G (p.Ile1181Ser) c.3530T>G (p.Ile1177Ser) c.3497T>G (p.Ile1166Ser) c.3440T>G (p.Ile1147Ser) c.3539T>G (p.Ile1180Ser) c.3515T>G (p.Ile1172Ser) c.3350T>G (p.Ile1117Ser) | |
1 | g.16986037A>G | CA338230497 | ATP13A2 | c.*184T>C (n.*184T>C) c.3425T>C (p.Ile1142Thr) n.1773T>C c.1145T>C (p.Ile382Thr) c.3557T>C (p.Ile1186Thr) c.3554T>C (p.Ile1185Thr) c.3542T>C (p.Ile1181Thr) c.3530T>C (p.Ile1177Thr) c.3497T>C (p.Ile1166Thr) c.3440T>C (p.Ile1147Thr) c.3539T>C (p.Ile1180Thr) c.3515T>C (p.Ile1172Thr) c.3350T>C (p.Ile1117Thr) | |
1 | g.16986037A>T | CA338230495 | ATP13A2 | c.*184T>A (n.*184T>A) c.3425T>A (p.Ile1142Asn) n.1773T>A c.1145T>A (p.Ile382Asn) c.3557T>A (p.Ile1186Asn) c.3554T>A (p.Ile1185Asn) c.3542T>A (p.Ile1181Asn) c.3530T>A (p.Ile1177Asn) c.3497T>A (p.Ile1166Asn) c.3440T>A (p.Ile1147Asn) c.3539T>A (p.Ile1180Asn) c.3515T>A (p.Ile1172Asn) c.3350T>A (p.Ile1117Asn) | |
1 | g.16986038T>A | CA338230498 | ATP13A2 | c.*183A>T (n.*183A>T) c.3424A>T (p.Ile1142Phe) n.1772A>T c.1144A>T (p.Ile382Phe) c.3556A>T (p.Ile1186Phe) c.3553A>T (p.Ile1185Phe) c.3541A>T (p.Ile1181Phe) c.3529A>T (p.Ile1177Phe) c.3496A>T (p.Ile1166Phe) c.3439A>T (p.Ile1147Phe) c.3538A>T (p.Ile1180Phe) c.3514A>T (p.Ile1172Phe) c.3349A>T (p.Ile1117Phe) | |
1 | g.16986038T>C | CA338230499 | ATP13A2 | c.*183A>G (n.*183A>G) c.3424A>G (p.Ile1142Val) n.1772A>G c.1144A>G (p.Ile382Val) c.3556A>G (p.Ile1186Val) c.3553A>G (p.Ile1185Val) c.3541A>G (p.Ile1181Val) c.3529A>G (p.Ile1177Val) c.3496A>G (p.Ile1166Val) c.3439A>G (p.Ile1147Val) c.3538A>G (p.Ile1180Val) c.3514A>G (p.Ile1172Val) c.3349A>G (p.Ile1117Val) | |
1 | g.16986038T>G | CA338230500 | ATP13A2 | c.*183A>C (n.*183A>C) c.3424A>C (p.Ile1142Leu) n.1772A>C c.1144A>C (p.Ile382Leu) c.3556A>C (p.Ile1186Leu) c.3553A>C (p.Ile1185Leu) c.3541A>C (p.Ile1181Leu) c.3529A>C (p.Ile1177Leu) c.3496A>C (p.Ile1166Leu) c.3439A>C (p.Ile1147Leu) c.3538A>C (p.Ile1180Leu) c.3514A>C (p.Ile1172Leu) c.3349A>C (p.Ile1117Leu) | |
1 | g.16986039G>A | CA18624260 | ATP13A2 | c.*182C>T (n.*182C>T) c.3423C>T (p.Thr1141=) n.1771C>T c.1143C>T (p.Thr381=) c.3555C>T (p.Thr1185=) c.3552C>T (p.Thr1184=) c.3540C>T (p.Thr1180=) c.3528C>T (p.Thr1176=) c.3495C>T (p.Thr1165=) c.3438C>T (p.Thr1146=) c.3537C>T (p.Thr1179=) c.3513C>T (p.Thr1171=) c.3348C>T (p.Thr1116=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986039G= | CA1156048681 | ATP13A2 | c.*182C= (n.*182C=) c.3423C= (p.Thr1141=) n.1771C= c.1143C= (p.Thr381=) c.3555C= (p.Thr1185=) c.3552C= (p.Thr1184=) c.3540C= (p.Thr1180=) c.3528C= (p.Thr1176=) c.3495C= (p.Thr1165=) c.3438C= (p.Thr1146=) c.3537C= (p.Thr1179=) c.3513C= (p.Thr1171=) c.3348C= (p.Thr1116=) | |
1 | g.16986039G>T | CA2643667566 | ATP13A2 | c.*182C>A (n.*182C>A) c.3423C>A (p.Thr1141=) n.1771C>A c.1143C>A (p.Thr381=) c.3555C>A (p.Thr1185=) c.3552C>A (p.Thr1184=) c.3540C>A (p.Thr1180=) c.3528C>A (p.Thr1176=) c.3495C>A (p.Thr1165=) c.3438C>A (p.Thr1146=) c.3537C>A (p.Thr1179=) c.3513C>A (p.Thr1171=) c.3348C>A (p.Thr1116=) | gnomAD v4 |
1 | g.16986040G>A | CA338230501 | ATP13A2 | c.*181C>T (n.*181C>T) c.3422C>T (p.Thr1141Ile) n.1770C>T c.1142C>T (p.Thr381Ile) c.3554C>T (p.Thr1185Ile) c.3551C>T (p.Thr1184Ile) c.3539C>T (p.Thr1180Ile) c.3527C>T (p.Thr1176Ile) c.3494C>T (p.Thr1165Ile) c.3437C>T (p.Thr1146Ile) c.3536C>T (p.Thr1179Ile) c.3512C>T (p.Thr1171Ile) c.3347C>T (p.Thr1116Ile) | |
1 | g.16986040G>C | CA338230502 | ATP13A2 | c.*181C>G (n.*181C>G) c.3422C>G (p.Thr1141Ser) n.1770C>G c.1142C>G (p.Thr381Ser) c.3554C>G (p.Thr1185Ser) c.3551C>G (p.Thr1184Ser) c.3539C>G (p.Thr1180Ser) c.3527C>G (p.Thr1176Ser) c.3494C>G (p.Thr1165Ser) c.3437C>G (p.Thr1146Ser) c.3536C>G (p.Thr1179Ser) c.3512C>G (p.Thr1171Ser) c.3347C>G (p.Thr1116Ser) | |
1 | g.16986040G>T | CA338230503 | ATP13A2 | c.*181C>A (n.*181C>A) c.3422C>A (p.Thr1141Asn) n.1770C>A c.1142C>A (p.Thr381Asn) c.3554C>A (p.Thr1185Asn) c.3551C>A (p.Thr1184Asn) c.3539C>A (p.Thr1180Asn) c.3527C>A (p.Thr1176Asn) c.3494C>A (p.Thr1165Asn) c.3437C>A (p.Thr1146Asn) c.3536C>A (p.Thr1179Asn) c.3512C>A (p.Thr1171Asn) c.3347C>A (p.Thr1116Asn) | gnomAD v4 |
1 | g.16986041T>A | CA338230504 | ATP13A2 | c.*180A>T (n.*180A>T) c.3421A>T (p.Thr1141Ser) n.1769A>T c.1141A>T (p.Thr381Ser) c.3553A>T (p.Thr1185Ser) c.3550A>T (p.Thr1184Ser) c.3538A>T (p.Thr1180Ser) c.3526A>T (p.Thr1176Ser) c.3493A>T (p.Thr1165Ser) c.3436A>T (p.Thr1146Ser) c.3535A>T (p.Thr1179Ser) c.3511A>T (p.Thr1171Ser) c.3346A>T (p.Thr1116Ser) | |
1 | g.16986041T>C | CA338230505 | ATP13A2 | c.*180A>G (n.*180A>G) c.3421A>G (p.Thr1141Ala) n.1769A>G c.1141A>G (p.Thr381Ala) c.3553A>G (p.Thr1185Ala) c.3550A>G (p.Thr1184Ala) c.3538A>G (p.Thr1180Ala) c.3526A>G (p.Thr1176Ala) c.3493A>G (p.Thr1165Ala) c.3436A>G (p.Thr1146Ala) c.3535A>G (p.Thr1179Ala) c.3511A>G (p.Thr1171Ala) c.3346A>G (p.Thr1116Ala) | gnomAD v4 |
1 | g.16986041T>G | CA338230506 | ATP13A2 | c.*180A>C (n.*180A>C) c.3421A>C (p.Thr1141Pro) n.1769A>C c.1141A>C (p.Thr381Pro) c.3553A>C (p.Thr1185Pro) c.3550A>C (p.Thr1184Pro) c.3538A>C (p.Thr1180Pro) c.3526A>C (p.Thr1176Pro) c.3493A>C (p.Thr1165Pro) c.3436A>C (p.Thr1146Pro) c.3535A>C (p.Thr1179Pro) c.3511A>C (p.Thr1171Pro) c.3346A>C (p.Thr1116Pro) | |
1 | g.16986041_16986042delinsTC | CA1156048687 | ATP13A2 | c.*179_*180delinsGA (n.*179_*180delinsGA) c.3420_3421delinsGA (p.Trp1140=) n.1768_1769delinsGA c.1140_1141delinsGA (p.Trp380=) c.3552_3553delinsGA (p.Trp1184=) c.3549_3550delinsGA (p.Trp1183=) c.3537_3538delinsGA (p.Trp1179=) c.3525_3526delinsGA (p.Trp1175=) c.3492_3493delinsGA (p.Trp1164=) c.3435_3436delinsGA (p.Trp1145=) c.3534_3535delinsGA (p.Trp1178=) c.3510_3511delinsGA (p.Trp1170=) c.3345_3346delinsGA (p.Trp1115=) | |
1 | g.16986042C>A | CA338230507 | ATP13A2 | c.*179G>T (n.*179G>T) c.3420G>T (p.Trp1140Cys) n.1768G>T c.1140G>T (p.Trp380Cys) c.3552G>T (p.Trp1184Cys) c.3549G>T (p.Trp1183Cys) c.3537G>T (p.Trp1179Cys) c.3525G>T (p.Trp1175Cys) c.3492G>T (p.Trp1164Cys) c.3435G>T (p.Trp1145Cys) c.3534G>T (p.Trp1178Cys) c.3510G>T (p.Trp1170Cys) c.3345G>T (p.Trp1115Cys) | |
1 | g.16986042C>G | CA338230508 | ATP13A2 | c.*179G>C (n.*179G>C) c.3420G>C (p.Trp1140Cys) n.1768G>C c.1140G>C (p.Trp380Cys) c.3552G>C (p.Trp1184Cys) c.3549G>C (p.Trp1183Cys) c.3537G>C (p.Trp1179Cys) c.3525G>C (p.Trp1175Cys) c.3492G>C (p.Trp1164Cys) c.3435G>C (p.Trp1145Cys) c.3534G>C (p.Trp1178Cys) c.3510G>C (p.Trp1170Cys) c.3345G>C (p.Trp1115Cys) | gnomAD v4 |
1 | g.16986042C>T | CA338230509 | ATP13A2 | c.*179G>A (n.*179G>A) c.3420G>A (p.Trp1140Ter) n.1768G>A c.1140G>A (p.Trp380Ter) c.3552G>A (p.Trp1184Ter) c.3549G>A (p.Trp1183Ter) c.3537G>A (p.Trp1179Ter) c.3525G>A (p.Trp1175Ter) c.3492G>A (p.Trp1164Ter) c.3435G>A (p.Trp1145Ter) c.3534G>A (p.Trp1178Ter) c.3510G>A (p.Trp1170Ter) c.3345G>A (p.Trp1115Ter) | |
1 | g.16986043del | CA999084888 | ATP13A2 | c.*179del (n.*179del) c.3420del (p.Trp1140Ter) n.1768del c.1140del (p.Trp380Ter) c.3552del (p.Trp1184Ter) c.3549del (p.Trp1183Ter) c.3537del (p.Trp1179Ter) c.3525del (p.Trp1175Ter) c.3492del (p.Trp1164Ter) c.3435del (p.Trp1145Ter) c.3534del (p.Trp1178Ter) c.3510del (p.Trp1170Ter) c.3345del (p.Trp1115Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986043C>A | CA338230514 | ATP13A2 | c.*178G>T (n.*178G>T) c.3419G>T (p.Trp1140Leu) n.1767G>T c.1139G>T (p.Trp380Leu) c.3551G>T (p.Trp1184Leu) c.3548G>T (p.Trp1183Leu) c.3536G>T (p.Trp1179Leu) c.3524G>T (p.Trp1175Leu) c.3491G>T (p.Trp1164Leu) c.3434G>T (p.Trp1145Leu) c.3533G>T (p.Trp1178Leu) c.3509G>T (p.Trp1170Leu) c.3344G>T (p.Trp1115Leu) | |
1 | g.16986043C= | CA1156048692 | ATP13A2 | c.*178G= (n.*178G=) c.3419G= (p.Trp1140=) n.1767G= c.1139G= (p.Trp380=) c.3551G= (p.Trp1184=) c.3548G= (p.Trp1183=) c.3536G= (p.Trp1179=) c.3524G= (p.Trp1175=) c.3491G= (p.Trp1164=) c.3434G= (p.Trp1145=) c.3533G= (p.Trp1178=) c.3509G= (p.Trp1170=) c.3344G= (p.Trp1115=) | |
1 | g.16986043C>G | CA338230512 | ATP13A2 | c.*178G>C (n.*178G>C) c.3419G>C (p.Trp1140Ser) n.1767G>C c.1139G>C (p.Trp380Ser) c.3551G>C (p.Trp1184Ser) c.3548G>C (p.Trp1183Ser) c.3536G>C (p.Trp1179Ser) c.3524G>C (p.Trp1175Ser) c.3491G>C (p.Trp1164Ser) c.3434G>C (p.Trp1145Ser) c.3533G>C (p.Trp1178Ser) c.3509G>C (p.Trp1170Ser) c.3344G>C (p.Trp1115Ser) | |
1 | g.16986043C>T | CA338230511 | ATP13A2 | c.*178G>A (n.*178G>A) c.3419G>A (p.Trp1140Ter) n.1767G>A c.1139G>A (p.Trp380Ter) c.3551G>A (p.Trp1184Ter) c.3548G>A (p.Trp1183Ter) c.3536G>A (p.Trp1179Ter) c.3524G>A (p.Trp1175Ter) c.3491G>A (p.Trp1164Ter) c.3434G>A (p.Trp1145Ter) c.3533G>A (p.Trp1178Ter) c.3509G>A (p.Trp1170Ter) c.3344G>A (p.Trp1115Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986044A= | CA1156048695 | ATP13A2 | c.*177T= (n.*177T=) c.3418T= (p.Trp1140=) n.1766T= c.1138T= (p.Trp380=) c.3550T= (p.Trp1184=) c.3547T= (p.Trp1183=) c.3535T= (p.Trp1179=) c.3523T= (p.Trp1175=) c.3490T= (p.Trp1164=) c.3433T= (p.Trp1145=) c.3532T= (p.Trp1178=) c.3508T= (p.Trp1170=) c.3343T= (p.Trp1115=) | |
1 | g.16986044A>C | CA338230516 | ATP13A2 | c.*177T>G (n.*177T>G) c.3418T>G (p.Trp1140Gly) n.1766T>G c.1138T>G (p.Trp380Gly) c.3550T>G (p.Trp1184Gly) c.3547T>G (p.Trp1183Gly) c.3535T>G (p.Trp1179Gly) c.3523T>G (p.Trp1175Gly) c.3490T>G (p.Trp1164Gly) c.3433T>G (p.Trp1145Gly) c.3532T>G (p.Trp1178Gly) c.3508T>G (p.Trp1170Gly) c.3343T>G (p.Trp1115Gly) | gnomAD v4 |
1 | g.16986044A>G | CA338230517 | ATP13A2 | c.*177T>C (n.*177T>C) c.3418T>C (p.Trp1140Arg) n.1766T>C c.1138T>C (p.Trp380Arg) c.3550T>C (p.Trp1184Arg) c.3547T>C (p.Trp1183Arg) c.3535T>C (p.Trp1179Arg) c.3523T>C (p.Trp1175Arg) c.3490T>C (p.Trp1164Arg) c.3433T>C (p.Trp1145Arg) c.3532T>C (p.Trp1178Arg) c.3508T>C (p.Trp1170Arg) c.3343T>C (p.Trp1115Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986044A>T | CA338230518 | ATP13A2 | c.*177T>A (n.*177T>A) c.3418T>A (p.Trp1140Arg) n.1766T>A c.1138T>A (p.Trp380Arg) c.3550T>A (p.Trp1184Arg) c.3547T>A (p.Trp1183Arg) c.3535T>A (p.Trp1179Arg) c.3523T>A (p.Trp1175Arg) c.3490T>A (p.Trp1164Arg) c.3433T>A (p.Trp1145Arg) c.3532T>A (p.Trp1178Arg) c.3508T>A (p.Trp1170Arg) c.3343T>A (p.Trp1115Arg) | |
1 | g.16986046G>A | CA338230520 | ATP13A2 | c.*175C>T (n.*175C>T) c.3416C>T (p.Pro1139Leu) n.1764C>T c.1136C>T (p.Pro379Leu) c.3548C>T (p.Pro1183Leu) c.3545C>T (p.Pro1182Leu) c.3533C>T (p.Pro1178Leu) c.3521C>T (p.Pro1174Leu) c.3488C>T (p.Pro1163Leu) c.3431C>T (p.Pro1144Leu) c.3530C>T (p.Pro1177Leu) c.3506C>T (p.Pro1169Leu) c.3341C>T (p.Pro1114Leu) | |
1 | g.16986046G>C | CA338230521 | ATP13A2 | c.*175C>G (n.*175C>G) c.3416C>G (p.Pro1139Arg) n.1764C>G c.1136C>G (p.Pro379Arg) c.3548C>G (p.Pro1183Arg) c.3545C>G (p.Pro1182Arg) c.3533C>G (p.Pro1178Arg) c.3521C>G (p.Pro1174Arg) c.3488C>G (p.Pro1163Arg) c.3431C>G (p.Pro1144Arg) c.3530C>G (p.Pro1177Arg) c.3506C>G (p.Pro1169Arg) c.3341C>G (p.Pro1114Arg) | |
1 | g.16986046G>T | CA338230522 | ATP13A2 | c.*175C>A (n.*175C>A) c.3416C>A (p.Pro1139His) n.1764C>A c.1136C>A (p.Pro379His) c.3548C>A (p.Pro1183His) c.3545C>A (p.Pro1182His) c.3533C>A (p.Pro1178His) c.3521C>A (p.Pro1174His) c.3488C>A (p.Pro1163His) c.3431C>A (p.Pro1144His) c.3530C>A (p.Pro1177His) c.3506C>A (p.Pro1169His) c.3341C>A (p.Pro1114His) | gnomAD v4 |
1 | g.16986047G>A | CA338230523 | ATP13A2 | c.*174C>T (n.*174C>T) c.3415C>T (p.Pro1139Ser) n.1763C>T c.1135C>T (p.Pro379Ser) c.3547C>T (p.Pro1183Ser) c.3544C>T (p.Pro1182Ser) c.3532C>T (p.Pro1178Ser) c.3520C>T (p.Pro1174Ser) c.3487C>T (p.Pro1163Ser) c.3430C>T (p.Pro1144Ser) c.3529C>T (p.Pro1177Ser) c.3505C>T (p.Pro1169Ser) c.3340C>T (p.Pro1114Ser) | |
1 | g.16986047G>C | CA338230524 | ATP13A2 | c.*174C>G (n.*174C>G) c.3415C>G (p.Pro1139Ala) n.1763C>G c.1135C>G (p.Pro379Ala) c.3547C>G (p.Pro1183Ala) c.3544C>G (p.Pro1182Ala) c.3532C>G (p.Pro1178Ala) c.3520C>G (p.Pro1174Ala) c.3487C>G (p.Pro1163Ala) c.3430C>G (p.Pro1144Ala) c.3529C>G (p.Pro1177Ala) c.3505C>G (p.Pro1169Ala) c.3340C>G (p.Pro1114Ala) | |
1 | g.16986047G= | CA1156048700 | ATP13A2 | c.*174C= (n.*174C=) c.3415C= (p.Pro1139=) n.1763C= c.1135C= (p.Pro379=) c.3547C= (p.Pro1183=) c.3544C= (p.Pro1182=) c.3532C= (p.Pro1178=) c.3520C= (p.Pro1174=) c.3487C= (p.Pro1163=) c.3430C= (p.Pro1144=) c.3529C= (p.Pro1177=) c.3505C= (p.Pro1169=) c.3340C= (p.Pro1114=) | |
1 | g.16986047G>T | CA338230525 | ATP13A2 | c.*174C>A (n.*174C>A) c.3415C>A (p.Pro1139Thr) n.1763C>A c.1135C>A (p.Pro379Thr) c.3547C>A (p.Pro1183Thr) c.3544C>A (p.Pro1182Thr) c.3532C>A (p.Pro1178Thr) c.3520C>A (p.Pro1174Thr) c.3487C>A (p.Pro1163Thr) c.3430C>A (p.Pro1144Thr) c.3529C>A (p.Pro1177Thr) c.3505C>A (p.Pro1169Thr) c.3340C>A (p.Pro1114Thr) | dbSNP |
1 | g.16986048T>A | CA1156048710 | ATP13A2 | c.*173A>T (n.*173A>T) c.3414A>T (p.Leu1138=) n.1762A>T c.1134A>T (p.Leu378=) c.3546A>T (p.Leu1182=) c.3543A>T (p.Leu1181=) c.3531A>T (p.Leu1177=) c.3519A>T (p.Leu1173=) c.3486A>T (p.Leu1162=) c.3429A>T (p.Leu1143=) c.3528A>T (p.Leu1176=) c.3504A>T (p.Leu1168=) c.3339A>T (p.Leu1113=) | dbSNP |
1 | g.16986048T>C | CA521027687 | ATP13A2 | c.*173A>G (n.*173A>G) c.3414A>G (p.Leu1138=) n.1762A>G c.1134A>G (p.Leu378=) c.3546A>G (p.Leu1182=) c.3543A>G (p.Leu1181=) c.3531A>G (p.Leu1177=) c.3519A>G (p.Leu1173=) c.3486A>G (p.Leu1162=) c.3429A>G (p.Leu1143=) c.3528A>G (p.Leu1176=) c.3504A>G (p.Leu1168=) c.3339A>G (p.Leu1113=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986048T>G | CA1156048714 | ATP13A2 | c.*173A>C (n.*173A>C) c.3414A>C (p.Leu1138=) n.1762A>C c.1134A>C (p.Leu378=) c.3546A>C (p.Leu1182=) c.3543A>C (p.Leu1181=) c.3531A>C (p.Leu1177=) c.3519A>C (p.Leu1173=) c.3486A>C (p.Leu1162=) c.3429A>C (p.Leu1143=) c.3528A>C (p.Leu1176=) c.3504A>C (p.Leu1168=) c.3339A>C (p.Leu1113=) | dbSNP |
1 | g.16986048T= | CA1156048704 | ATP13A2 | c.*173A= (n.*173A=) c.3414A= (p.Leu1138=) n.1762A= c.1134A= (p.Leu378=) c.3546A= (p.Leu1182=) c.3543A= (p.Leu1181=) c.3531A= (p.Leu1177=) c.3519A= (p.Leu1173=) c.3486A= (p.Leu1162=) c.3429A= (p.Leu1143=) c.3528A= (p.Leu1176=) c.3504A= (p.Leu1168=) c.3339A= (p.Leu1113=) | |
1 | g.16986049A>C | CA338230526 | ATP13A2 | c.*172T>G (n.*172T>G) c.3413T>G (p.Leu1138Arg) n.1761T>G c.1133T>G (p.Leu378Arg) c.3545T>G (p.Leu1182Arg) c.3542T>G (p.Leu1181Arg) c.3530T>G (p.Leu1177Arg) c.3518T>G (p.Leu1173Arg) c.3485T>G (p.Leu1162Arg) c.3428T>G (p.Leu1143Arg) c.3527T>G (p.Leu1176Arg) c.3503T>G (p.Leu1168Arg) c.3338T>G (p.Leu1113Arg) | |
1 | g.16986049A>G | CA338230527 | ATP13A2 | c.*172T>C (n.*172T>C) c.3413T>C (p.Leu1138Pro) n.1761T>C c.1133T>C (p.Leu378Pro) c.3545T>C (p.Leu1182Pro) c.3542T>C (p.Leu1181Pro) c.3530T>C (p.Leu1177Pro) c.3518T>C (p.Leu1173Pro) c.3485T>C (p.Leu1162Pro) c.3428T>C (p.Leu1143Pro) c.3527T>C (p.Leu1176Pro) c.3503T>C (p.Leu1168Pro) c.3338T>C (p.Leu1113Pro) | |
1 | g.16986049A>T | CA338230528 | ATP13A2 | c.*172T>A (n.*172T>A) c.3413T>A (p.Leu1138Gln) n.1761T>A c.1133T>A (p.Leu378Gln) c.3545T>A (p.Leu1182Gln) c.3542T>A (p.Leu1181Gln) c.3530T>A (p.Leu1177Gln) c.3518T>A (p.Leu1173Gln) c.3485T>A (p.Leu1162Gln) c.3428T>A (p.Leu1143Gln) c.3527T>A (p.Leu1176Gln) c.3503T>A (p.Leu1168Gln) c.3338T>A (p.Leu1113Gln) | |
1 | g.16986050G>C | CA338230531 | ATP13A2 | c.*171C>G (n.*171C>G) c.3412C>G (p.Leu1138Val) n.1760C>G c.1132C>G (p.Leu378Val) c.3544C>G (p.Leu1182Val) c.3541C>G (p.Leu1181Val) c.3529C>G (p.Leu1177Val) c.3517C>G (p.Leu1173Val) c.3484C>G (p.Leu1162Val) c.3427C>G (p.Leu1143Val) c.3526C>G (p.Leu1176Val) c.3502C>G (p.Leu1168Val) c.3337C>G (p.Leu1113Val) | |
1 | g.16986050G>T | CA338230532 | ATP13A2 | c.*171C>A (n.*171C>A) c.3412C>A (p.Leu1138Ile) n.1760C>A c.1132C>A (p.Leu378Ile) c.3544C>A (p.Leu1182Ile) c.3541C>A (p.Leu1181Ile) c.3529C>A (p.Leu1177Ile) c.3517C>A (p.Leu1173Ile) c.3484C>A (p.Leu1162Ile) c.3427C>A (p.Leu1143Ile) c.3526C>A (p.Leu1176Ile) c.3502C>A (p.Leu1168Ile) c.3337C>A (p.Leu1113Ile) | gnomAD v4 |
1 | g.16986052_16986053del | CA2574234588 | ATP13A2 | c.*170_*171del (n.*170_*171del) c.3411_3412del (p.Leu1138ThrfsTer7) n.1759_1760del c.1131_1132del (p.Leu378ThrfsTer7) c.3543_3544del (p.Leu1182ThrfsTer7) c.3540_3541del (p.Leu1181ThrfsTer7) c.3528_3529del (p.Leu1177ThrfsTer7) c.3516_3517del (p.Leu1173ThrfsTer7) c.3483_3484del (p.Leu1162ThrfsTer7) c.3426_3427del (p.Leu1143ThrfsTer7) c.3525_3526del (p.Leu1176ThrfsTer7) c.3501_3502del (p.Leu1168ThrfsTer7) c.3336_3337del (p.Leu1113ThrfsTer7) | gnomAD v4 |
1 | g.16986051G>A | CA2574234592 | ATP13A2 | c.*170C>T (n.*170C>T) c.3411C>T (p.Pro1137=) n.1759C>T c.1131C>T (p.Pro377=) c.3543C>T (p.Pro1181=) c.3540C>T (p.Pro1180=) c.3528C>T (p.Pro1176=) c.3516C>T (p.Pro1172=) c.3483C>T (p.Pro1161=) c.3426C>T (p.Pro1142=) c.3525C>T (p.Pro1175=) c.3501C>T (p.Pro1167=) c.3336C>T (p.Pro1112=) | |
1 | g.16986051G>C | CA1156048722 | ATP13A2 | c.*170C>G (n.*170C>G) c.3411C>G (p.Pro1137=) n.1759C>G c.1131C>G (p.Pro377=) c.3543C>G (p.Pro1181=) c.3540C>G (p.Pro1180=) c.3528C>G (p.Pro1176=) c.3516C>G (p.Pro1172=) c.3483C>G (p.Pro1161=) c.3426C>G (p.Pro1142=) c.3525C>G (p.Pro1175=) c.3501C>G (p.Pro1167=) c.3336C>G (p.Pro1112=) | dbSNP gnomAD v4 |
1 | g.16986051G= | CA1156048719 | ATP13A2 | c.*170C= (n.*170C=) c.3411C= (p.Pro1137=) n.1759C= c.1131C= (p.Pro377=) c.3543C= (p.Pro1181=) c.3540C= (p.Pro1180=) c.3528C= (p.Pro1176=) c.3516C= (p.Pro1172=) c.3483C= (p.Pro1161=) c.3426C= (p.Pro1142=) c.3525C= (p.Pro1175=) c.3501C= (p.Pro1167=) c.3336C= (p.Pro1112=) | |
1 | g.16986052G>A | CA338230539 | ATP13A2 | c.*169C>T (n.*169C>T) c.3410C>T (p.Pro1137Leu) n.1758C>T c.1130C>T (p.Pro377Leu) c.3542C>T (p.Pro1181Leu) c.3539C>T (p.Pro1180Leu) c.3527C>T (p.Pro1176Leu) c.3515C>T (p.Pro1172Leu) c.3482C>T (p.Pro1161Leu) c.3425C>T (p.Pro1142Leu) c.3524C>T (p.Pro1175Leu) c.3500C>T (p.Pro1167Leu) c.3335C>T (p.Pro1112Leu) | |
1 | g.16986052G>C | CA338230537 | ATP13A2 | c.*169C>G (n.*169C>G) c.3410C>G (p.Pro1137Arg) n.1758C>G c.1130C>G (p.Pro377Arg) c.3542C>G (p.Pro1181Arg) c.3539C>G (p.Pro1180Arg) c.3527C>G (p.Pro1176Arg) c.3515C>G (p.Pro1172Arg) c.3482C>G (p.Pro1161Arg) c.3425C>G (p.Pro1142Arg) c.3524C>G (p.Pro1175Arg) c.3500C>G (p.Pro1167Arg) c.3335C>G (p.Pro1112Arg) | |
1 | g.16986052G= | CA1156048726 | ATP13A2 | c.*169C= (n.*169C=) c.3410C= (p.Pro1137=) n.1758C= c.1130C= (p.Pro377=) c.3542C= (p.Pro1181=) c.3539C= (p.Pro1180=) c.3527C= (p.Pro1176=) c.3515C= (p.Pro1172=) c.3482C= (p.Pro1161=) c.3425C= (p.Pro1142=) c.3524C= (p.Pro1175=) c.3500C= (p.Pro1167=) c.3335C= (p.Pro1112=) | |
1 | g.16986052G>T | CA338230536 | ATP13A2 | c.*169C>A (n.*169C>A) c.3410C>A (p.Pro1137His) n.1758C>A c.1130C>A (p.Pro377His) c.3542C>A (p.Pro1181His) c.3539C>A (p.Pro1180His) c.3527C>A (p.Pro1176His) c.3515C>A (p.Pro1172His) c.3482C>A (p.Pro1161His) c.3425C>A (p.Pro1142His) c.3524C>A (p.Pro1175His) c.3500C>A (p.Pro1167His) c.3335C>A (p.Pro1112His) | |
1 | g.16986052_16986053insTT | CA1156048730 | ATP13A2 | c.*168_*169insAA (n.*168_*169insAA) c.3409_3410insAA (p.Pro1137GlnfsTer26) n.1757_1758insAA c.1129_1130insAA (p.Pro377GlnfsTer?) c.3541_3542insAA (p.Pro1181GlnfsTer26) c.3538_3539insAA (p.Pro1180GlnfsTer26) c.3526_3527insAA (p.Pro1176GlnfsTer26) c.3514_3515insAA (p.Pro1172GlnfsTer26) c.3481_3482insAA (p.Pro1161GlnfsTer26) c.3424_3425insAA (p.Pro1142GlnfsTer26) c.3523_3524insAA (p.Pro1175GlnfsTer26) c.3499_3500insAA (p.Pro1167GlnfsTer26) c.3334_3335insAA (p.Pro1112GlnfsTer26) | dbSNP |
1 | g.16986053G>A | CA338230541 | ATP13A2 | c.*168C>T (n.*168C>T) c.3409C>T (p.Pro1137Ser) n.1757C>T c.1129C>T (p.Pro377Ser) c.3541C>T (p.Pro1181Ser) c.3538C>T (p.Pro1180Ser) c.3526C>T (p.Pro1176Ser) c.3514C>T (p.Pro1172Ser) c.3481C>T (p.Pro1161Ser) c.3424C>T (p.Pro1142Ser) c.3523C>T (p.Pro1175Ser) c.3499C>T (p.Pro1167Ser) c.3334C>T (p.Pro1112Ser) | |
1 | g.16986053G>C | CA338230543 | ATP13A2 | c.*168C>G (n.*168C>G) c.3409C>G (p.Pro1137Ala) n.1757C>G c.1129C>G (p.Pro377Ala) c.3541C>G (p.Pro1181Ala) c.3538C>G (p.Pro1180Ala) c.3526C>G (p.Pro1176Ala) c.3514C>G (p.Pro1172Ala) c.3481C>G (p.Pro1161Ala) c.3424C>G (p.Pro1142Ala) c.3523C>G (p.Pro1175Ala) c.3499C>G (p.Pro1167Ala) c.3334C>G (p.Pro1112Ala) | gnomAD v4 |
1 | g.16986053G>T | CA338230544 | ATP13A2 | c.*168C>A (n.*168C>A) c.3409C>A (p.Pro1137Thr) n.1757C>A c.1129C>A (p.Pro377Thr) c.3541C>A (p.Pro1181Thr) c.3538C>A (p.Pro1180Thr) c.3526C>A (p.Pro1176Thr) c.3514C>A (p.Pro1172Thr) c.3481C>A (p.Pro1161Thr) c.3424C>A (p.Pro1142Thr) c.3523C>A (p.Pro1175Thr) c.3499C>A (p.Pro1167Thr) c.3334C>A (p.Pro1112Thr) | gnomAD v4 |
1 | g.16986054A>C | CA338230545 | ATP13A2 | c.*167T>G (n.*167T>G) c.3408T>G (p.Cys1136Trp) n.1756T>G c.1128T>G (p.Cys376Trp) c.3540T>G (p.Cys1180Trp) c.3537T>G (p.Cys1179Trp) c.3525T>G (p.Cys1175Trp) c.3513T>G (p.Cys1171Trp) c.3480T>G (p.Cys1160Trp) c.3423T>G (p.Cys1141Trp) c.3522T>G (p.Cys1174Trp) c.3498T>G (p.Cys1166Trp) c.3333T>G (p.Cys1111Trp) | |
1 | g.16986054A>T | CA338230547 | ATP13A2 | c.*167T>A (n.*167T>A) c.3408T>A (p.Cys1136Ter) n.1756T>A c.1128T>A (p.Cys376Ter) c.3540T>A (p.Cys1180Ter) c.3537T>A (p.Cys1179Ter) c.3525T>A (p.Cys1175Ter) c.3513T>A (p.Cys1171Ter) c.3480T>A (p.Cys1160Ter) c.3423T>A (p.Cys1141Ter) c.3522T>A (p.Cys1174Ter) c.3498T>A (p.Cys1166Ter) c.3333T>A (p.Cys1111Ter) | |
1 | g.16986055C>A | CA338230549 | ATP13A2 | c.*166G>T (n.*166G>T) c.3407G>T (p.Cys1136Phe) n.1755G>T c.1127G>T (p.Cys376Phe) c.3539G>T (p.Cys1180Phe) c.3536G>T (p.Cys1179Phe) c.3524G>T (p.Cys1175Phe) c.3512G>T (p.Cys1171Phe) c.3479G>T (p.Cys1160Phe) c.3422G>T (p.Cys1141Phe) c.3521G>T (p.Cys1174Phe) c.3497G>T (p.Cys1166Phe) c.3332G>T (p.Cys1111Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986055C= | CA1156048735 | ATP13A2 | c.*166G= (n.*166G=) c.3407G= (p.Cys1136=) n.1755G= c.1127G= (p.Cys376=) c.3539G= (p.Cys1180=) c.3536G= (p.Cys1179=) c.3524G= (p.Cys1175=) c.3512G= (p.Cys1171=) c.3479G= (p.Cys1160=) c.3422G= (p.Cys1141=) c.3521G= (p.Cys1174=) c.3497G= (p.Cys1166=) c.3332G= (p.Cys1111=) | |
1 | g.16986055C>G | CA338230550 | ATP13A2 | c.*166G>C (n.*166G>C) c.3407G>C (p.Cys1136Ser) n.1755G>C c.1127G>C (p.Cys376Ser) c.3539G>C (p.Cys1180Ser) c.3536G>C (p.Cys1179Ser) c.3524G>C (p.Cys1175Ser) c.3512G>C (p.Cys1171Ser) c.3479G>C (p.Cys1160Ser) c.3422G>C (p.Cys1141Ser) c.3521G>C (p.Cys1174Ser) c.3497G>C (p.Cys1166Ser) c.3332G>C (p.Cys1111Ser) | |
1 | g.16986055C>T | CA338230551 | ATP13A2 | c.*166G>A (n.*166G>A) c.3407G>A (p.Cys1136Tyr) n.1755G>A c.1127G>A (p.Cys376Tyr) c.3539G>A (p.Cys1180Tyr) c.3536G>A (p.Cys1179Tyr) c.3524G>A (p.Cys1175Tyr) c.3512G>A (p.Cys1171Tyr) c.3479G>A (p.Cys1160Tyr) c.3422G>A (p.Cys1141Tyr) c.3521G>A (p.Cys1174Tyr) c.3497G>A (p.Cys1166Tyr) c.3332G>A (p.Cys1111Tyr) | |
1 | g.16986055_16986057delinsCAG | CA1156048733 | ATP13A2 | c.*164_*166delinsCTG (n.*164_*166delinsCTG) c.3405_3407delinsCTG (p.Tyr1135=) n.1753_1755delinsCTG c.1125_1127delinsCTG (p.Tyr375=) c.3537_3539delinsCTG (p.Tyr1179=) c.3534_3536delinsCTG (p.Tyr1178=) c.3522_3524delinsCTG (p.Tyr1174=) c.3510_3512delinsCTG (p.Tyr1170=) c.3477_3479delinsCTG (p.Tyr1159=) c.3420_3422delinsCTG (p.Tyr1140=) c.3519_3521delinsCTG (p.Tyr1173=) c.3495_3497delinsCTG (p.Tyr1165=) c.3330_3332delinsCTG (p.Tyr1110=) | |
1 | g.16986056A= | CA1156048739 | ATP13A2 | c.*165T= (n.*165T=) c.3406T= (p.Cys1136=) n.1754T= c.1126T= (p.Cys376=) c.3538T= (p.Cys1180=) c.3535T= (p.Cys1179=) c.3523T= (p.Cys1175=) c.3511T= (p.Cys1171=) c.3478T= (p.Cys1160=) c.3421T= (p.Cys1141=) c.3520T= (p.Cys1174=) c.3496T= (p.Cys1166=) c.3331T= (p.Cys1111=) | |
1 | g.16986056A>C | CA338230552 | ATP13A2 | c.*165T>G (n.*165T>G) c.3406T>G (p.Cys1136Gly) n.1754T>G c.1126T>G (p.Cys376Gly) c.3538T>G (p.Cys1180Gly) c.3535T>G (p.Cys1179Gly) c.3523T>G (p.Cys1175Gly) c.3511T>G (p.Cys1171Gly) c.3478T>G (p.Cys1160Gly) c.3421T>G (p.Cys1141Gly) c.3520T>G (p.Cys1174Gly) c.3496T>G (p.Cys1166Gly) c.3331T>G (p.Cys1111Gly) | |
1 | g.16986056A>G | CA338230553 | ATP13A2 | c.*165T>C (n.*165T>C) c.3406T>C (p.Cys1136Arg) n.1754T>C c.1126T>C (p.Cys376Arg) c.3538T>C (p.Cys1180Arg) c.3535T>C (p.Cys1179Arg) c.3523T>C (p.Cys1175Arg) c.3511T>C (p.Cys1171Arg) c.3478T>C (p.Cys1160Arg) c.3421T>C (p.Cys1141Arg) c.3520T>C (p.Cys1174Arg) c.3496T>C (p.Cys1166Arg) c.3331T>C (p.Cys1111Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986056A>T | CA338230554 | ATP13A2 | c.*165T>A (n.*165T>A) c.3406T>A (p.Cys1136Ser) n.1754T>A c.1126T>A (p.Cys376Ser) c.3538T>A (p.Cys1180Ser) c.3535T>A (p.Cys1179Ser) c.3523T>A (p.Cys1175Ser) c.3511T>A (p.Cys1171Ser) c.3478T>A (p.Cys1160Ser) c.3421T>A (p.Cys1141Ser) c.3520T>A (p.Cys1174Ser) c.3496T>A (p.Cys1166Ser) c.3331T>A (p.Cys1111Ser) | |
1 | g.16986056_16986057del | CA1156048738 | ATP13A2 | c.*164_*165del (n.*164_*165del) c.3405_3406del (p.Tyr1135Ter) n.1753_1754del c.1125_1126del (p.Tyr375Ter) c.3537_3538del (p.Tyr1179Ter) c.3534_3535del (p.Tyr1178Ter) c.3522_3523del (p.Tyr1174Ter) c.3510_3511del (p.Tyr1170Ter) c.3477_3478del (p.Tyr1159Ter) c.3420_3421del (p.Tyr1140Ter) c.3519_3520del (p.Tyr1173Ter) c.3495_3496del (p.Tyr1165Ter) c.3330_3331del (p.Tyr1110Ter) | dbSNP |
1 | g.16986057G>C | CA338230556 | ATP13A2 | c.*164C>G (n.*164C>G) c.3405C>G (p.Tyr1135Ter) n.1753C>G c.1125C>G (p.Tyr375Ter) c.3537C>G (p.Tyr1179Ter) c.3534C>G (p.Tyr1178Ter) c.3522C>G (p.Tyr1174Ter) c.3510C>G (p.Tyr1170Ter) c.3477C>G (p.Tyr1159Ter) c.3420C>G (p.Tyr1140Ter) c.3519C>G (p.Tyr1173Ter) c.3495C>G (p.Tyr1165Ter) c.3330C>G (p.Tyr1110Ter) | |
1 | g.16986057G>T | CA338230558 | ATP13A2 | c.*164C>A (n.*164C>A) c.3405C>A (p.Tyr1135Ter) n.1753C>A c.1125C>A (p.Tyr375Ter) c.3537C>A (p.Tyr1179Ter) c.3534C>A (p.Tyr1178Ter) c.3522C>A (p.Tyr1174Ter) c.3510C>A (p.Tyr1170Ter) c.3477C>A (p.Tyr1159Ter) c.3420C>A (p.Tyr1140Ter) c.3519C>A (p.Tyr1173Ter) c.3495C>A (p.Tyr1165Ter) c.3330C>A (p.Tyr1110Ter) | |
1 | g.16986058T>A | CA338230566 | ATP13A2 | c.*163A>T (n.*163A>T) c.3404A>T (p.Tyr1135Phe) n.1752A>T c.1124A>T (p.Tyr375Phe) c.3536A>T (p.Tyr1179Phe) c.3533A>T (p.Tyr1178Phe) c.3521A>T (p.Tyr1174Phe) c.3509A>T (p.Tyr1170Phe) c.3476A>T (p.Tyr1159Phe) c.3419A>T (p.Tyr1140Phe) c.3518A>T (p.Tyr1173Phe) c.3494A>T (p.Tyr1165Phe) c.3329A>T (p.Tyr1110Phe) | |
1 | g.16986058T>C | CA338230564 | ATP13A2 | c.*163A>G (n.*163A>G) c.3404A>G (p.Tyr1135Cys) n.1752A>G c.1124A>G (p.Tyr375Cys) c.3536A>G (p.Tyr1179Cys) c.3533A>G (p.Tyr1178Cys) c.3521A>G (p.Tyr1174Cys) c.3509A>G (p.Tyr1170Cys) c.3476A>G (p.Tyr1159Cys) c.3419A>G (p.Tyr1140Cys) c.3518A>G (p.Tyr1173Cys) c.3494A>G (p.Tyr1165Cys) c.3329A>G (p.Tyr1110Cys) | gnomAD v4 |
1 | g.16986058T>G | CA338230560 | ATP13A2 | c.*163A>C (n.*163A>C) c.3404A>C (p.Tyr1135Ser) n.1752A>C c.1124A>C (p.Tyr375Ser) c.3536A>C (p.Tyr1179Ser) c.3533A>C (p.Tyr1178Ser) c.3521A>C (p.Tyr1174Ser) c.3509A>C (p.Tyr1170Ser) c.3476A>C (p.Tyr1159Ser) c.3419A>C (p.Tyr1140Ser) c.3518A>C (p.Tyr1173Ser) c.3494A>C (p.Tyr1165Ser) c.3329A>C (p.Tyr1110Ser) | |
1 | g.16986059A= | CA1156048742 | ATP13A2 | c.*162T= (n.*162T=) c.3403T= (p.Tyr1135=) n.1751T= c.1123T= (p.Tyr375=) c.3535T= (p.Tyr1179=) c.3532T= (p.Tyr1178=) c.3520T= (p.Tyr1174=) c.3508T= (p.Tyr1170=) c.3475T= (p.Tyr1159=) c.3418T= (p.Tyr1140=) c.3517T= (p.Tyr1173=) c.3493T= (p.Tyr1165=) c.3328T= (p.Tyr1110=) | |
1 | g.16986059A>C | CA338230568 | ATP13A2 | c.*162T>G (n.*162T>G) c.3403T>G (p.Tyr1135Asp) n.1751T>G c.1123T>G (p.Tyr375Asp) c.3535T>G (p.Tyr1179Asp) c.3532T>G (p.Tyr1178Asp) c.3520T>G (p.Tyr1174Asp) c.3508T>G (p.Tyr1170Asp) c.3475T>G (p.Tyr1159Asp) c.3418T>G (p.Tyr1140Asp) c.3517T>G (p.Tyr1173Asp) c.3493T>G (p.Tyr1165Asp) c.3328T>G (p.Tyr1110Asp) | |
1 | g.16986059A>G | CA338230573 | ATP13A2 | c.*162T>C (n.*162T>C) c.3403T>C (p.Tyr1135His) n.1751T>C c.1123T>C (p.Tyr375His) c.3535T>C (p.Tyr1179His) c.3532T>C (p.Tyr1178His) c.3520T>C (p.Tyr1174His) c.3508T>C (p.Tyr1170His) c.3475T>C (p.Tyr1159His) c.3418T>C (p.Tyr1140His) c.3517T>C (p.Tyr1173His) c.3493T>C (p.Tyr1165His) c.3328T>C (p.Tyr1110His) | |
1 | g.16986059A>T | CA338230574 | ATP13A2 | c.*162T>A (n.*162T>A) c.3403T>A (p.Tyr1135Asn) n.1751T>A c.1123T>A (p.Tyr375Asn) c.3535T>A (p.Tyr1179Asn) c.3532T>A (p.Tyr1178Asn) c.3520T>A (p.Tyr1174Asn) c.3508T>A (p.Tyr1170Asn) c.3475T>A (p.Tyr1159Asn) c.3418T>A (p.Tyr1140Asn) c.3517T>A (p.Tyr1173Asn) c.3493T>A (p.Tyr1165Asn) c.3328T>A (p.Tyr1110Asn) | |
1 | g.16986059_16986060insCT | CA1156048745 | ATP13A2 | c.*161_*162insAG (n.*161_*162insAG) c.3402_3403insAG (p.Tyr1135SerfsTer28) n.1750_1751insAG c.1122_1123insAG (p.Tyr375SerfsTer?) c.3534_3535insAG (p.Tyr1179SerfsTer28) c.3531_3532insAG (p.Tyr1178SerfsTer28) c.3519_3520insAG (p.Tyr1174SerfsTer28) c.3507_3508insAG (p.Tyr1170SerfsTer28) c.3474_3475insAG (p.Tyr1159SerfsTer28) c.3417_3418insAG (p.Tyr1140SerfsTer28) c.3516_3517insAG (p.Tyr1173SerfsTer28) c.3492_3493insAG (p.Tyr1165SerfsTer28) c.3327_3328insAG (p.Tyr1110SerfsTer28) | dbSNP |
1 | g.16986060G>C | CA338230576 | ATP13A2 | c.*161C>G (n.*161C>G) c.3402C>G (p.Asp1134Glu) n.1750C>G c.1122C>G (p.Asp374Glu) c.3534C>G (p.Asp1178Glu) c.3531C>G (p.Asp1177Glu) c.3519C>G (p.Asp1173Glu) c.3507C>G (p.Asp1169Glu) c.3474C>G (p.Asp1158Glu) c.3417C>G (p.Asp1139Glu) c.3516C>G (p.Asp1172Glu) c.3492C>G (p.Asp1164Glu) c.3327C>G (p.Asp1109Glu) | |
1 | g.16986060G>T | CA338230580 | ATP13A2 | c.*161C>A (n.*161C>A) c.3402C>A (p.Asp1134Glu) n.1750C>A c.1122C>A (p.Asp374Glu) c.3534C>A (p.Asp1178Glu) c.3531C>A (p.Asp1177Glu) c.3519C>A (p.Asp1173Glu) c.3507C>A (p.Asp1169Glu) c.3474C>A (p.Asp1158Glu) c.3417C>A (p.Asp1139Glu) c.3516C>A (p.Asp1172Glu) c.3492C>A (p.Asp1164Glu) c.3327C>A (p.Asp1109Glu) | |
1 | g.16986061T>A | CA338230581 | ATP13A2 | c.*160A>T (n.*160A>T) c.3401A>T (p.Asp1134Val) n.1749A>T c.1121A>T (p.Asp374Val) c.3533A>T (p.Asp1178Val) c.3530A>T (p.Asp1177Val) c.3518A>T (p.Asp1173Val) c.3506A>T (p.Asp1169Val) c.3473A>T (p.Asp1158Val) c.3416A>T (p.Asp1139Val) c.3515A>T (p.Asp1172Val) c.3491A>T (p.Asp1164Val) c.3326A>T (p.Asp1109Val) | |
1 | g.16986061T>C | CA338230588 | ATP13A2 | c.*160A>G (n.*160A>G) c.3401A>G (p.Asp1134Gly) n.1749A>G c.1121A>G (p.Asp374Gly) c.3533A>G (p.Asp1178Gly) c.3530A>G (p.Asp1177Gly) c.3518A>G (p.Asp1173Gly) c.3506A>G (p.Asp1169Gly) c.3473A>G (p.Asp1158Gly) c.3416A>G (p.Asp1139Gly) c.3515A>G (p.Asp1172Gly) c.3491A>G (p.Asp1164Gly) c.3326A>G (p.Asp1109Gly) | gnomAD v4 |
1 | g.16986061T>G | CA338230590 | ATP13A2 | c.*160A>C (n.*160A>C) c.3401A>C (p.Asp1134Ala) n.1749A>C c.1121A>C (p.Asp374Ala) c.3533A>C (p.Asp1178Ala) c.3530A>C (p.Asp1177Ala) c.3518A>C (p.Asp1173Ala) c.3506A>C (p.Asp1169Ala) c.3473A>C (p.Asp1158Ala) c.3416A>C (p.Asp1139Ala) c.3515A>C (p.Asp1172Ala) c.3491A>C (p.Asp1164Ala) c.3326A>C (p.Asp1109Ala) | |
1 | g.16986062C>A | CA338230598 | ATP13A2 | c.*159G>T (n.*159G>T) c.3400G>T (p.Asp1134Tyr) n.1748G>T c.1120G>T (p.Asp374Tyr) c.3532G>T (p.Asp1178Tyr) c.3529G>T (p.Asp1177Tyr) c.3517G>T (p.Asp1173Tyr) c.3505G>T (p.Asp1169Tyr) c.3472G>T (p.Asp1158Tyr) c.3415G>T (p.Asp1139Tyr) c.3514G>T (p.Asp1172Tyr) c.3490G>T (p.Asp1164Tyr) c.3325G>T (p.Asp1109Tyr) | gnomAD v4 |
1 | g.16986062C= | CA1156048751 | ATP13A2 | c.*159G= (n.*159G=) c.3400G= (p.Asp1134=) n.1748G= c.1120G= (p.Asp374=) c.3532G= (p.Asp1178=) c.3529G= (p.Asp1177=) c.3517G= (p.Asp1173=) c.3505G= (p.Asp1169=) c.3472G= (p.Asp1158=) c.3415G= (p.Asp1139=) c.3514G= (p.Asp1172=) c.3490G= (p.Asp1164=) c.3325G= (p.Asp1109=) | |
1 | g.16986062C>G | CA18624266 | ATP13A2 | c.*159G>C (n.*159G>C) c.3400G>C (p.Asp1134His) n.1748G>C c.1120G>C (p.Asp374His) c.3532G>C (p.Asp1178His) c.3529G>C (p.Asp1177His) c.3517G>C (p.Asp1173His) c.3505G>C (p.Asp1169His) c.3472G>C (p.Asp1158His) c.3415G>C (p.Asp1139His) c.3514G>C (p.Asp1172His) c.3490G>C (p.Asp1164His) c.3325G>C (p.Asp1109His) | dbSNP |
1 | g.16986062C>T | CA338230601 | ATP13A2 | c.*159G>A (n.*159G>A) c.3400G>A (p.Asp1134Asn) n.1748G>A c.1120G>A (p.Asp374Asn) c.3532G>A (p.Asp1178Asn) c.3529G>A (p.Asp1177Asn) c.3517G>A (p.Asp1173Asn) c.3505G>A (p.Asp1169Asn) c.3472G>A (p.Asp1158Asn) c.3415G>A (p.Asp1139Asn) c.3514G>A (p.Asp1172Asn) c.3490G>A (p.Asp1164Asn) c.3325G>A (p.Asp1109Asn) | |
1 | g.16986062_16986064delinsCAA | CA1156048753 | ATP13A2 | c.*157_*159delinsTTG (n.*157_*159delinsTTG) c.3398_3400delinsTTG (p.Val1133=) n.1746_1748delinsTTG c.1118_1120delinsTTG (p.Val373=) c.3530_3532delinsTTG (p.Val1177=) c.3527_3529delinsTTG (p.Val1176=) c.3515_3517delinsTTG (p.Val1172=) c.3503_3505delinsTTG (p.Val1168=) c.3470_3472delinsTTG (p.Val1157=) c.3413_3415delinsTTG (p.Val1138=) c.3512_3514delinsTTG (p.Val1171=) c.3488_3490delinsTTG (p.Val1163=) c.3323_3325delinsTTG (p.Val1108=) | |
1 | g.16986063A= | CA1142779322 | ATP13A2 | c.*158T= (n.*158T=) c.3399T= (p.Val1133=) n.1747T= c.1119T= (p.Val373=) c.3531T= (p.Val1177=) c.3528T= (p.Val1176=) c.3516T= (p.Val1172=) c.3504T= (p.Val1168=) c.3471T= (p.Val1157=) c.3414T= (p.Val1138=) c.3513T= (p.Val1171=) c.3489T= (p.Val1163=) c.3324T= (p.Val1108=) | |
1 | g.16986063A>C | CA636413 | ATP13A2 | c.*158T>G (n.*158T>G) c.3399T>G (p.Val1133=) n.1747T>G c.1119T>G (p.Val373=) c.3531T>G (p.Val1177=) c.3528T>G (p.Val1176=) c.3516T>G (p.Val1172=) c.3504T>G (p.Val1168=) c.3471T>G (p.Val1157=) c.3414T>G (p.Val1138=) c.3513T>G (p.Val1171=) c.3489T>G (p.Val1163=) c.3324T>G (p.Val1108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986063A>G | CA636412 | ATP13A2 | c.*158T>C (n.*158T>C) c.3399T>C (p.Val1133=) n.1747T>C c.1119T>C (p.Val373=) c.3531T>C (p.Val1177=) c.3528T>C (p.Val1176=) c.3516T>C (p.Val1172=) c.3504T>C (p.Val1168=) c.3471T>C (p.Val1157=) c.3414T>C (p.Val1138=) c.3513T>C (p.Val1171=) c.3489T>C (p.Val1163=) c.3324T>C (p.Val1108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986063_16986064del | CA1156048759 | ATP13A2 | c.*157_*158del (n.*157_*158del) c.3398_3399del (p.Val1133GlyfsTer12) n.1746_1747del c.1118_1119del (p.Val373GlyfsTer12) c.3530_3531del (p.Val1177GlyfsTer12) c.3527_3528del (p.Val1176GlyfsTer12) c.3515_3516del (p.Val1172GlyfsTer12) c.3503_3504del (p.Val1168GlyfsTer12) c.3470_3471del (p.Val1157GlyfsTer12) c.3413_3414del (p.Val1138GlyfsTer12) c.3512_3513del (p.Val1171GlyfsTer12) c.3488_3489del (p.Val1163GlyfsTer12) c.3323_3324del (p.Val1108GlyfsTer12) | dbSNP |
1 | g.16986064A>C | CA338230608 | ATP13A2 | c.*157T>G (n.*157T>G) c.3398T>G (p.Val1133Gly) n.1746T>G c.1118T>G (p.Val373Gly) c.3530T>G (p.Val1177Gly) c.3527T>G (p.Val1176Gly) c.3515T>G (p.Val1172Gly) c.3503T>G (p.Val1168Gly) c.3470T>G (p.Val1157Gly) c.3413T>G (p.Val1138Gly) c.3512T>G (p.Val1171Gly) c.3488T>G (p.Val1163Gly) c.3323T>G (p.Val1108Gly) | |
1 | g.16986064A>G | CA338230610 | ATP13A2 | c.*157T>C (n.*157T>C) c.3398T>C (p.Val1133Ala) n.1746T>C c.1118T>C (p.Val373Ala) c.3530T>C (p.Val1177Ala) c.3527T>C (p.Val1176Ala) c.3515T>C (p.Val1172Ala) c.3503T>C (p.Val1168Ala) c.3470T>C (p.Val1157Ala) c.3413T>C (p.Val1138Ala) c.3512T>C (p.Val1171Ala) c.3488T>C (p.Val1163Ala) c.3323T>C (p.Val1108Ala) | |
1 | g.16986064A>T | CA338230607 | ATP13A2 | c.*157T>A (n.*157T>A) c.3398T>A (p.Val1133Asp) n.1746T>A c.1118T>A (p.Val373Asp) c.3530T>A (p.Val1177Asp) c.3527T>A (p.Val1176Asp) c.3515T>A (p.Val1172Asp) c.3503T>A (p.Val1168Asp) c.3470T>A (p.Val1157Asp) c.3413T>A (p.Val1138Asp) c.3512T>A (p.Val1171Asp) c.3488T>A (p.Val1163Asp) c.3323T>A (p.Val1108Asp) | |
1 | g.16986065C>A | CA338230612 | ATP13A2 | c.*156G>T (n.*156G>T) c.3397G>T (p.Val1133Phe) n.1745G>T c.1117G>T (p.Val373Phe) c.3529G>T (p.Val1177Phe) c.3526G>T (p.Val1176Phe) c.3514G>T (p.Val1172Phe) c.3502G>T (p.Val1168Phe) c.3469G>T (p.Val1157Phe) c.3412G>T (p.Val1138Phe) c.3511G>T (p.Val1171Phe) c.3487G>T (p.Val1163Phe) c.3322G>T (p.Val1108Phe) | |
1 | g.16986065C= | CA1145379443 | ATP13A2 | c.*156G= (n.*156G=) c.3397G= (p.Val1133=) n.1745G= c.1117G= (p.Val373=) c.3529G= (p.Val1177=) c.3526G= (p.Val1176=) c.3514G= (p.Val1172=) c.3502G= (p.Val1168=) c.3469G= (p.Val1157=) c.3412G= (p.Val1138=) c.3511G= (p.Val1171=) c.3487G= (p.Val1163=) c.3322G= (p.Val1108=) | |
1 | g.16986065C>G | CA338230613 | ATP13A2 | c.*156G>C (n.*156G>C) c.3397G>C (p.Val1133Leu) n.1745G>C c.1117G>C (p.Val373Leu) c.3529G>C (p.Val1177Leu) c.3526G>C (p.Val1176Leu) c.3514G>C (p.Val1172Leu) c.3502G>C (p.Val1168Leu) c.3469G>C (p.Val1157Leu) c.3412G>C (p.Val1138Leu) c.3511G>C (p.Val1171Leu) c.3487G>C (p.Val1163Leu) c.3322G>C (p.Val1108Leu) | |
1 | g.16986065C>T | CA636414 | ATP13A2 | c.*156G>A (n.*156G>A) c.3397G>A (p.Val1133Ile) n.1745G>A c.1117G>A (p.Val373Ile) c.3529G>A (p.Val1177Ile) c.3526G>A (p.Val1176Ile) c.3514G>A (p.Val1172Ile) c.3502G>A (p.Val1168Ile) c.3469G>A (p.Val1157Ile) c.3412G>A (p.Val1138Ile) c.3511G>A (p.Val1171Ile) c.3487G>A (p.Val1163Ile) c.3322G>A (p.Val1108Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986066G>A | CA636415 | ATP13A2 | c.*155C>T (n.*155C>T) c.3396C>T (p.Ser1132=) n.1744C>T c.1116C>T (p.Ser372=) c.3528C>T (p.Ser1176=) c.3525C>T (p.Ser1175=) c.3513C>T (p.Ser1171=) c.3501C>T (p.Ser1167=) c.3468C>T (p.Ser1156=) c.3411C>T (p.Ser1137=) c.3510C>T (p.Ser1170=) c.3486C>T (p.Ser1162=) c.3321C>T (p.Ser1107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986066G>C | CA338230615 | ATP13A2 | c.*155C>G (n.*155C>G) c.3396C>G (p.Ser1132Arg) n.1744C>G c.1116C>G (p.Ser372Arg) c.3528C>G (p.Ser1176Arg) c.3525C>G (p.Ser1175Arg) c.3513C>G (p.Ser1171Arg) c.3501C>G (p.Ser1167Arg) c.3468C>G (p.Ser1156Arg) c.3411C>G (p.Ser1137Arg) c.3510C>G (p.Ser1170Arg) c.3486C>G (p.Ser1162Arg) c.3321C>G (p.Ser1107Arg) | |
1 | g.16986066G= | CA1156048766 | ATP13A2 | c.*155C= (n.*155C=) c.3396C= (p.Ser1132=) n.1744C= c.1116C= (p.Ser372=) c.3528C= (p.Ser1176=) c.3525C= (p.Ser1175=) c.3513C= (p.Ser1171=) c.3501C= (p.Ser1167=) c.3468C= (p.Ser1156=) c.3411C= (p.Ser1137=) c.3510C= (p.Ser1170=) c.3486C= (p.Ser1162=) c.3321C= (p.Ser1107=) | |
1 | g.16986066G>T | CA338230618 | ATP13A2 | c.*155C>A (n.*155C>A) c.3396C>A (p.Ser1132Arg) n.1744C>A c.1116C>A (p.Ser372Arg) c.3528C>A (p.Ser1176Arg) c.3525C>A (p.Ser1175Arg) c.3513C>A (p.Ser1171Arg) c.3501C>A (p.Ser1167Arg) c.3468C>A (p.Ser1156Arg) c.3411C>A (p.Ser1137Arg) c.3510C>A (p.Ser1170Arg) c.3486C>A (p.Ser1162Arg) c.3321C>A (p.Ser1107Arg) | gnomAD v4 |
1 | g.16986067C>A | CA338230620 | ATP13A2 | c.*154G>T (n.*154G>T) c.3395G>T (p.Ser1132Ile) n.1743G>T c.1115G>T (p.Ser372Ile) c.3527G>T (p.Ser1176Ile) c.3524G>T (p.Ser1175Ile) c.3512G>T (p.Ser1171Ile) c.3500G>T (p.Ser1167Ile) c.3467G>T (p.Ser1156Ile) c.3410G>T (p.Ser1137Ile) c.3509G>T (p.Ser1170Ile) c.3485G>T (p.Ser1162Ile) c.3320G>T (p.Ser1107Ile) | gnomAD v4 |
1 | g.16986067C>G | CA338230622 | ATP13A2 | c.*154G>C (n.*154G>C) c.3395G>C (p.Ser1132Thr) n.1743G>C c.1115G>C (p.Ser372Thr) c.3527G>C (p.Ser1176Thr) c.3524G>C (p.Ser1175Thr) c.3512G>C (p.Ser1171Thr) c.3500G>C (p.Ser1167Thr) c.3467G>C (p.Ser1156Thr) c.3410G>C (p.Ser1137Thr) c.3509G>C (p.Ser1170Thr) c.3485G>C (p.Ser1162Thr) c.3320G>C (p.Ser1107Thr) | |
1 | g.16986067C>T | CA338230624 | ATP13A2 | c.*154G>A (n.*154G>A) c.3395G>A (p.Ser1132Asn) n.1743G>A c.1115G>A (p.Ser372Asn) c.3527G>A (p.Ser1176Asn) c.3524G>A (p.Ser1175Asn) c.3512G>A (p.Ser1171Asn) c.3500G>A (p.Ser1167Asn) c.3467G>A (p.Ser1156Asn) c.3410G>A (p.Ser1137Asn) c.3509G>A (p.Ser1170Asn) c.3485G>A (p.Ser1162Asn) c.3320G>A (p.Ser1107Asn) | |
1 | g.16986068T>A | CA338230628 | ATP13A2 | c.*153A>T (n.*153A>T) c.3394A>T (p.Ser1132Cys) n.1742A>T c.1114A>T (p.Ser372Cys) c.3526A>T (p.Ser1176Cys) c.3523A>T (p.Ser1175Cys) c.3511A>T (p.Ser1171Cys) c.3499A>T (p.Ser1167Cys) c.3466A>T (p.Ser1156Cys) c.3409A>T (p.Ser1137Cys) c.3508A>T (p.Ser1170Cys) c.3484A>T (p.Ser1162Cys) c.3319A>T (p.Ser1107Cys) | |
1 | g.16986068T>C | CA338230631 | ATP13A2 | c.*153A>G (n.*153A>G) c.3394A>G (p.Ser1132Gly) n.1742A>G c.1114A>G (p.Ser372Gly) c.3526A>G (p.Ser1176Gly) c.3523A>G (p.Ser1175Gly) c.3511A>G (p.Ser1171Gly) c.3499A>G (p.Ser1167Gly) c.3466A>G (p.Ser1156Gly) c.3409A>G (p.Ser1137Gly) c.3508A>G (p.Ser1170Gly) c.3484A>G (p.Ser1162Gly) c.3319A>G (p.Ser1107Gly) | |
1 | g.16986068T>G | CA338230634 | ATP13A2 | c.*153A>C (n.*153A>C) c.3394A>C (p.Ser1132Arg) n.1742A>C c.1114A>C (p.Ser372Arg) c.3526A>C (p.Ser1176Arg) c.3523A>C (p.Ser1175Arg) c.3511A>C (p.Ser1171Arg) c.3499A>C (p.Ser1167Arg) c.3466A>C (p.Ser1156Arg) c.3409A>C (p.Ser1137Arg) c.3508A>C (p.Ser1170Arg) c.3484A>C (p.Ser1162Arg) c.3319A>C (p.Ser1107Arg) | |
1 | g.16986069T>C | CA2695407043 | ATP13A2 | c.*152A>G (n.*152A>G) c.3393A>G (p.Gly1131=) n.1741A>G c.1113A>G (p.Gly371=) c.3525A>G (p.Gly1175=) c.3522A>G (p.Gly1174=) c.3510A>G (p.Gly1170=) c.3498A>G (p.Gly1166=) c.3465A>G (p.Gly1155=) c.3408A>G (p.Gly1136=) c.3507A>G (p.Gly1169=) c.3483A>G (p.Gly1161=) c.3318A>G (p.Gly1106=) | dbSNP |
1 | g.16986069T= | CA1156048770 | ATP13A2 | c.*152A= (n.*152A=) c.3393A= (p.Gly1131=) n.1741A= c.1113A= (p.Gly371=) c.3525A= (p.Gly1175=) c.3522A= (p.Gly1174=) c.3510A= (p.Gly1170=) c.3498A= (p.Gly1166=) c.3465A= (p.Gly1155=) c.3408A= (p.Gly1136=) c.3507A= (p.Gly1169=) c.3483A= (p.Gly1161=) c.3318A= (p.Gly1106=) | |
1 | g.16986070C>A | CA338230635 | ATP13A2 | c.*151G>T (n.*151G>T) c.3392G>T (p.Gly1131Val) n.1740G>T c.1112G>T (p.Gly371Val) c.3524G>T (p.Gly1175Val) c.3521G>T (p.Gly1174Val) c.3509G>T (p.Gly1170Val) c.3497G>T (p.Gly1166Val) c.3464G>T (p.Gly1155Val) c.3407G>T (p.Gly1136Val) c.3506G>T (p.Gly1169Val) c.3482G>T (p.Gly1161Val) c.3317G>T (p.Gly1106Val) | |
1 | g.16986070C= | CA1156048781 | ATP13A2 | c.*151G= (n.*151G=) c.3392G= (p.Gly1131=) n.1740G= c.1112G= (p.Gly371=) c.3524G= (p.Gly1175=) c.3521G= (p.Gly1174=) c.3509G= (p.Gly1170=) c.3497G= (p.Gly1166=) c.3464G= (p.Gly1155=) c.3407G= (p.Gly1136=) c.3506G= (p.Gly1169=) c.3482G= (p.Gly1161=) c.3317G= (p.Gly1106=) | |
1 | g.16986070C>G | CA338230639 | ATP13A2 | c.*151G>C (n.*151G>C) c.3392G>C (p.Gly1131Ala) n.1740G>C c.1112G>C (p.Gly371Ala) c.3524G>C (p.Gly1175Ala) c.3521G>C (p.Gly1174Ala) c.3509G>C (p.Gly1170Ala) c.3497G>C (p.Gly1166Ala) c.3464G>C (p.Gly1155Ala) c.3407G>C (p.Gly1136Ala) c.3506G>C (p.Gly1169Ala) c.3482G>C (p.Gly1161Ala) c.3317G>C (p.Gly1106Ala) | |
1 | g.16986070C>T | CA338230641 | ATP13A2 | c.*151G>A (n.*151G>A) c.3392G>A (p.Gly1131Glu) n.1740G>A c.1112G>A (p.Gly371Glu) c.3524G>A (p.Gly1175Glu) c.3521G>A (p.Gly1174Glu) c.3509G>A (p.Gly1170Glu) c.3497G>A (p.Gly1166Glu) c.3464G>A (p.Gly1155Glu) c.3407G>A (p.Gly1136Glu) c.3506G>A (p.Gly1169Glu) c.3482G>A (p.Gly1161Glu) c.3317G>A (p.Gly1106Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986073dup | CA636416 | ATP13A2 | c.*151dup (n.*151dup) c.3392dup (p.Ser1132LysfsTer3) n.1740dup c.1112dup (p.Ser372LysfsTer3) c.3524dup (p.Ser1176LysfsTer3) c.3521dup (p.Ser1175LysfsTer3) c.3509dup (p.Ser1171LysfsTer3) c.3497dup (p.Ser1167LysfsTer3) c.3464dup (p.Ser1156LysfsTer3) c.3407dup (p.Ser1137LysfsTer3) c.3506dup (p.Ser1170LysfsTer3) c.3482dup (p.Ser1162LysfsTer3) c.3317dup (p.Ser1107LysfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986071C>A | CA338230642 | ATP13A2 | c.*150G>T (n.*150G>T) c.3391G>T (p.Gly1131Ter) n.1739G>T c.1111G>T (p.Gly371Ter) c.3523G>T (p.Gly1175Ter) c.3520G>T (p.Gly1174Ter) c.3508G>T (p.Gly1170Ter) c.3496G>T (p.Gly1166Ter) c.3463G>T (p.Gly1155Ter) c.3406G>T (p.Gly1136Ter) c.3505G>T (p.Gly1169Ter) c.3481G>T (p.Gly1161Ter) c.3316G>T (p.Gly1106Ter) | |
1 | g.16986071C>G | CA338230644 | ATP13A2 | c.*150G>C (n.*150G>C) c.3391G>C (p.Gly1131Arg) n.1739G>C c.1111G>C (p.Gly371Arg) c.3523G>C (p.Gly1175Arg) c.3520G>C (p.Gly1174Arg) c.3508G>C (p.Gly1170Arg) c.3496G>C (p.Gly1166Arg) c.3463G>C (p.Gly1155Arg) c.3406G>C (p.Gly1136Arg) c.3505G>C (p.Gly1169Arg) c.3481G>C (p.Gly1161Arg) c.3316G>C (p.Gly1106Arg) | |
1 | g.16986071C>T | CA338230643 | ATP13A2 | c.*150G>A (n.*150G>A) c.3391G>A (p.Gly1131Arg) n.1739G>A c.1111G>A (p.Gly371Arg) c.3523G>A (p.Gly1175Arg) c.3520G>A (p.Gly1174Arg) c.3508G>A (p.Gly1170Arg) c.3496G>A (p.Gly1166Arg) c.3463G>A (p.Gly1155Arg) c.3406G>A (p.Gly1136Arg) c.3505G>A (p.Gly1169Arg) c.3481G>A (p.Gly1161Arg) c.3316G>A (p.Gly1106Arg) | dbSNP |
1 | g.16986072C>A | CA338230645 | ATP13A2 | c.*149G>T (n.*149G>T) c.3390G>T (p.Trp1130Cys) n.1738G>T c.1110G>T (p.Trp370Cys) c.3522G>T (p.Trp1174Cys) c.3519G>T (p.Trp1173Cys) c.3507G>T (p.Trp1169Cys) c.3495G>T (p.Trp1165Cys) c.3462G>T (p.Trp1154Cys) c.3405G>T (p.Trp1135Cys) c.3504G>T (p.Trp1168Cys) c.3480G>T (p.Trp1160Cys) c.3315G>T (p.Trp1105Cys) | gnomAD v4 |
1 | g.16986072C= | CA1156048785 | ATP13A2 | c.*149G= (n.*149G=) c.3390G= (p.Trp1130=) n.1738G= c.1110G= (p.Trp370=) c.3522G= (p.Trp1174=) c.3519G= (p.Trp1173=) c.3507G= (p.Trp1169=) c.3495G= (p.Trp1165=) c.3462G= (p.Trp1154=) c.3405G= (p.Trp1135=) c.3504G= (p.Trp1168=) c.3480G= (p.Trp1160=) c.3315G= (p.Trp1105=) | |
1 | g.16986072C>G | CA338230647 | ATP13A2 | c.*149G>C (n.*149G>C) c.3390G>C (p.Trp1130Cys) n.1738G>C c.1110G>C (p.Trp370Cys) c.3522G>C (p.Trp1174Cys) c.3519G>C (p.Trp1173Cys) c.3507G>C (p.Trp1169Cys) c.3495G>C (p.Trp1165Cys) c.3462G>C (p.Trp1154Cys) c.3405G>C (p.Trp1135Cys) c.3504G>C (p.Trp1168Cys) c.3480G>C (p.Trp1160Cys) c.3315G>C (p.Trp1105Cys) | |
1 | g.16986072C>T | CA338230648 | ATP13A2 | c.*149G>A (n.*149G>A) c.3390G>A (p.Trp1130Ter) n.1738G>A c.1110G>A (p.Trp370Ter) c.3522G>A (p.Trp1174Ter) c.3519G>A (p.Trp1173Ter) c.3507G>A (p.Trp1169Ter) c.3495G>A (p.Trp1165Ter) c.3462G>A (p.Trp1154Ter) c.3405G>A (p.Trp1135Ter) c.3504G>A (p.Trp1168Ter) c.3480G>A (p.Trp1160Ter) c.3315G>A (p.Trp1105Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986073C>A | CA338230649 | ATP13A2 | c.*148G>T (n.*148G>T) c.3389G>T (p.Trp1130Leu) n.1737G>T c.1109G>T (p.Trp370Leu) c.3521G>T (p.Trp1174Leu) c.3518G>T (p.Trp1173Leu) c.3506G>T (p.Trp1169Leu) c.3494G>T (p.Trp1165Leu) c.3461G>T (p.Trp1154Leu) c.3404G>T (p.Trp1135Leu) c.3503G>T (p.Trp1168Leu) c.3479G>T (p.Trp1160Leu) c.3314G>T (p.Trp1105Leu) | |
1 | g.16986073C= | CA1156048787 | ATP13A2 | c.*148G= (n.*148G=) c.3389G= (p.Trp1130=) n.1737G= c.1109G= (p.Trp370=) c.3521G= (p.Trp1174=) c.3518G= (p.Trp1173=) c.3506G= (p.Trp1169=) c.3494G= (p.Trp1165=) c.3461G= (p.Trp1154=) c.3404G= (p.Trp1135=) c.3503G= (p.Trp1168=) c.3479G= (p.Trp1160=) c.3314G= (p.Trp1105=) | |
1 | g.16986073C>G | CA338230651 | ATP13A2 | c.*148G>C (n.*148G>C) c.3389G>C (p.Trp1130Ser) n.1737G>C c.1109G>C (p.Trp370Ser) c.3521G>C (p.Trp1174Ser) c.3518G>C (p.Trp1173Ser) c.3506G>C (p.Trp1169Ser) c.3494G>C (p.Trp1165Ser) c.3461G>C (p.Trp1154Ser) c.3404G>C (p.Trp1135Ser) c.3503G>C (p.Trp1168Ser) c.3479G>C (p.Trp1160Ser) c.3314G>C (p.Trp1105Ser) | |
1 | g.16986073C>T | CA338230653 | ATP13A2 | c.*148G>A (n.*148G>A) c.3389G>A (p.Trp1130Ter) n.1737G>A c.1109G>A (p.Trp370Ter) c.3521G>A (p.Trp1174Ter) c.3518G>A (p.Trp1173Ter) c.3506G>A (p.Trp1169Ter) c.3494G>A (p.Trp1165Ter) c.3461G>A (p.Trp1154Ter) c.3404G>A (p.Trp1135Ter) c.3503G>A (p.Trp1168Ter) c.3479G>A (p.Trp1160Ter) c.3314G>A (p.Trp1105Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986074A>C | CA338230655 | ATP13A2 | c.*147T>G (n.*147T>G) c.3388T>G (p.Trp1130Gly) n.1736T>G c.1108T>G (p.Trp370Gly) c.3520T>G (p.Trp1174Gly) c.3517T>G (p.Trp1173Gly) c.3505T>G (p.Trp1169Gly) c.3493T>G (p.Trp1165Gly) c.3460T>G (p.Trp1154Gly) c.3403T>G (p.Trp1135Gly) c.3502T>G (p.Trp1168Gly) c.3478T>G (p.Trp1160Gly) c.3313T>G (p.Trp1105Gly) | dbSNP |
1 | g.16986074A>G | CA338230657 | ATP13A2 | c.*147T>C (n.*147T>C) c.3388T>C (p.Trp1130Arg) n.1736T>C c.1108T>C (p.Trp370Arg) c.3520T>C (p.Trp1174Arg) c.3517T>C (p.Trp1173Arg) c.3505T>C (p.Trp1169Arg) c.3493T>C (p.Trp1165Arg) c.3460T>C (p.Trp1154Arg) c.3403T>C (p.Trp1135Arg) c.3502T>C (p.Trp1168Arg) c.3478T>C (p.Trp1160Arg) c.3313T>C (p.Trp1105Arg) | |
1 | g.16986074A>T | CA338230658 | ATP13A2 | c.*147T>A (n.*147T>A) c.3388T>A (p.Trp1130Arg) n.1736T>A c.1108T>A (p.Trp370Arg) c.3520T>A (p.Trp1174Arg) c.3517T>A (p.Trp1173Arg) c.3505T>A (p.Trp1169Arg) c.3493T>A (p.Trp1165Arg) c.3460T>A (p.Trp1154Arg) c.3403T>A (p.Trp1135Arg) c.3502T>A (p.Trp1168Arg) c.3478T>A (p.Trp1160Arg) c.3313T>A (p.Trp1105Arg) | dbSNP |
1 | g.16986075G>A | CA636417 | ATP13A2 | c.*146C>T (n.*146C>T) c.3387C>T (p.Pro1129=) n.1735C>T c.1107C>T (p.Pro369=) c.3519C>T (p.Pro1173=) c.3516C>T (p.Pro1172=) c.3504C>T (p.Pro1168=) c.3492C>T (p.Pro1164=) c.3459C>T (p.Pro1153=) c.3402C>T (p.Pro1134=) c.3501C>T (p.Pro1167=) c.3477C>T (p.Pro1159=) c.3312C>T (p.Pro1104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986075G= | CA1145031133 | ATP13A2 | c.*146C= (n.*146C=) c.3387C= (p.Pro1129=) n.1735C= c.1107C= (p.Pro369=) c.3519C= (p.Pro1173=) c.3516C= (p.Pro1172=) c.3504C= (p.Pro1168=) c.3492C= (p.Pro1164=) c.3459C= (p.Pro1153=) c.3402C= (p.Pro1134=) c.3501C= (p.Pro1167=) c.3477C= (p.Pro1159=) c.3312C= (p.Pro1104=) | |
1 | g.16986078_16986081dup | CA2643667692 | ATP13A2 | c.*143_*146dup (n.*143_*146dup) c.3384_3387dup (p.Trp1130ThrfsTer6) n.1732_1735dup c.1104_1107dup (p.Trp370ThrfsTer6) c.3516_3519dup (p.Trp1174ThrfsTer6) c.3513_3516dup (p.Trp1173ThrfsTer6) c.3501_3504dup (p.Trp1169ThrfsTer6) c.3489_3492dup (p.Trp1165ThrfsTer6) c.3456_3459dup (p.Trp1154ThrfsTer6) c.3399_3402dup (p.Trp1135ThrfsTer6) c.3498_3501dup (p.Trp1168ThrfsTer6) c.3474_3477dup (p.Trp1160ThrfsTer6) c.3309_3312dup (p.Trp1105ThrfsTer6) | gnomAD v4 |
1 | g.16986076G>A | CA338230667 | ATP13A2 | c.*145C>T (n.*145C>T) c.3386C>T (p.Pro1129Leu) n.1734C>T c.1106C>T (p.Pro369Leu) c.3518C>T (p.Pro1173Leu) c.3515C>T (p.Pro1172Leu) c.3503C>T (p.Pro1168Leu) c.3491C>T (p.Pro1164Leu) c.3458C>T (p.Pro1153Leu) c.3401C>T (p.Pro1134Leu) c.3500C>T (p.Pro1167Leu) c.3476C>T (p.Pro1159Leu) c.3311C>T (p.Pro1104Leu) | ClinVar dbSNP gnomAD v4 |
1 | g.16986076G>C | CA338230666 | ATP13A2 | c.*145C>G (n.*145C>G) c.3386C>G (p.Pro1129Arg) n.1734C>G c.1106C>G (p.Pro369Arg) c.3518C>G (p.Pro1173Arg) c.3515C>G (p.Pro1172Arg) c.3503C>G (p.Pro1168Arg) c.3491C>G (p.Pro1164Arg) c.3458C>G (p.Pro1153Arg) c.3401C>G (p.Pro1134Arg) c.3500C>G (p.Pro1167Arg) c.3476C>G (p.Pro1159Arg) c.3311C>G (p.Pro1104Arg) | |
1 | g.16986076G= | CA1156048790 | ATP13A2 | c.*145C= (n.*145C=) c.3386C= (p.Pro1129=) n.1734C= c.1106C= (p.Pro369=) c.3518C= (p.Pro1173=) c.3515C= (p.Pro1172=) c.3503C= (p.Pro1168=) c.3491C= (p.Pro1164=) c.3458C= (p.Pro1153=) c.3401C= (p.Pro1134=) c.3500C= (p.Pro1167=) c.3476C= (p.Pro1159=) c.3311C= (p.Pro1104=) | |
1 | g.16986076G>T | CA18624310 | ATP13A2 | c.*145C>A (n.*145C>A) c.3386C>A (p.Pro1129His) n.1734C>A c.1106C>A (p.Pro369His) c.3518C>A (p.Pro1173His) c.3515C>A (p.Pro1172His) c.3503C>A (p.Pro1168His) c.3491C>A (p.Pro1164His) c.3458C>A (p.Pro1153His) c.3401C>A (p.Pro1134His) c.3500C>A (p.Pro1167His) c.3476C>A (p.Pro1159His) c.3311C>A (p.Pro1104His) | dbSNP |
1 | g.16986077G>A | CA338230668 | ATP13A2 | c.*144C>T (n.*144C>T) c.3385C>T (p.Pro1129Ser) n.1733C>T c.1105C>T (p.Pro369Ser) c.3517C>T (p.Pro1173Ser) c.3514C>T (p.Pro1172Ser) c.3502C>T (p.Pro1168Ser) c.3490C>T (p.Pro1164Ser) c.3457C>T (p.Pro1153Ser) c.3400C>T (p.Pro1134Ser) c.3499C>T (p.Pro1167Ser) c.3475C>T (p.Pro1159Ser) c.3310C>T (p.Pro1104Ser) | dbSNP gnomAD v2 |
1 | g.16986077G>C | CA338230669 | ATP13A2 | c.*144C>G (n.*144C>G) c.3385C>G (p.Pro1129Ala) n.1733C>G c.1105C>G (p.Pro369Ala) c.3517C>G (p.Pro1173Ala) c.3514C>G (p.Pro1172Ala) c.3502C>G (p.Pro1168Ala) c.3490C>G (p.Pro1164Ala) c.3457C>G (p.Pro1153Ala) c.3400C>G (p.Pro1134Ala) c.3499C>G (p.Pro1167Ala) c.3475C>G (p.Pro1159Ala) c.3310C>G (p.Pro1104Ala) | |
1 | g.16986077G= | CA1156048792 | ATP13A2 | c.*144C= (n.*144C=) c.3385C= (p.Pro1129=) n.1733C= c.1105C= (p.Pro369=) c.3517C= (p.Pro1173=) c.3514C= (p.Pro1172=) c.3502C= (p.Pro1168=) c.3490C= (p.Pro1164=) c.3457C= (p.Pro1153=) c.3400C= (p.Pro1134=) c.3499C= (p.Pro1167=) c.3475C= (p.Pro1159=) c.3310C= (p.Pro1104=) | |
1 | g.16986077G>T | CA338230670 | ATP13A2 | c.*144C>A (n.*144C>A) c.3385C>A (p.Pro1129Thr) n.1733C>A c.1105C>A (p.Pro369Thr) c.3517C>A (p.Pro1173Thr) c.3514C>A (p.Pro1172Thr) c.3502C>A (p.Pro1168Thr) c.3490C>A (p.Pro1164Thr) c.3457C>A (p.Pro1153Thr) c.3400C>A (p.Pro1134Thr) c.3499C>A (p.Pro1167Thr) c.3475C>A (p.Pro1159Thr) c.3310C>A (p.Pro1104Thr) | dbSNP gnomAD v2 |
1 | g.16986078T>A | CA2643667700 | ATP13A2 | c.*143A>T (n.*143A>T) c.3384A>T (p.Pro1128=) n.1732A>T c.1104A>T (p.Pro368=) c.3516A>T (p.Pro1172=) c.3513A>T (p.Pro1171=) c.3501A>T (p.Pro1167=) c.3489A>T (p.Pro1163=) c.3456A>T (p.Pro1152=) c.3399A>T (p.Pro1133=) c.3498A>T (p.Pro1166=) c.3474A>T (p.Pro1158=) c.3309A>T (p.Pro1103=) | gnomAD v4 |
1 | g.16986078T>G | CA999084916 | ATP13A2 | c.*143A>C (n.*143A>C) c.3384A>C (p.Pro1128=) n.1732A>C c.1104A>C (p.Pro368=) c.3516A>C (p.Pro1172=) c.3513A>C (p.Pro1171=) c.3501A>C (p.Pro1167=) c.3489A>C (p.Pro1163=) c.3456A>C (p.Pro1152=) c.3399A>C (p.Pro1133=) c.3498A>C (p.Pro1166=) c.3474A>C (p.Pro1158=) c.3309A>C (p.Pro1103=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986079G>A | CA338230671 | ATP13A2 | c.*142C>T (n.*142C>T) c.3383C>T (p.Pro1128Leu) n.1731C>T c.1103C>T (p.Pro368Leu) c.3515C>T (p.Pro1172Leu) c.3512C>T (p.Pro1171Leu) c.3500C>T (p.Pro1167Leu) c.3488C>T (p.Pro1163Leu) c.3455C>T (p.Pro1152Leu) c.3398C>T (p.Pro1133Leu) c.3497C>T (p.Pro1166Leu) c.3473C>T (p.Pro1158Leu) c.3308C>T (p.Pro1103Leu) | gnomAD v4 |
1 | g.16986079G>C | CA338230673 | ATP13A2 | c.*142C>G (n.*142C>G) c.3383C>G (p.Pro1128Arg) n.1731C>G c.1103C>G (p.Pro368Arg) c.3515C>G (p.Pro1172Arg) c.3512C>G (p.Pro1171Arg) c.3500C>G (p.Pro1167Arg) c.3488C>G (p.Pro1163Arg) c.3455C>G (p.Pro1152Arg) c.3398C>G (p.Pro1133Arg) c.3497C>G (p.Pro1166Arg) c.3473C>G (p.Pro1158Arg) c.3308C>G (p.Pro1103Arg) | gnomAD v4 |
1 | g.16986079G= | CA1156048796 | ATP13A2 | c.*142C= (n.*142C=) c.3383C= (p.Pro1128=) n.1731C= c.1103C= (p.Pro368=) c.3515C= (p.Pro1172=) c.3512C= (p.Pro1171=) c.3500C= (p.Pro1167=) c.3488C= (p.Pro1163=) c.3455C= (p.Pro1152=) c.3398C= (p.Pro1133=) c.3497C= (p.Pro1166=) c.3473C= (p.Pro1158=) c.3308C= (p.Pro1103=) | |
1 | g.16986079G>T | CA636418 | ATP13A2 | c.*142C>A (n.*142C>A) c.3383C>A (p.Pro1128Gln) n.1731C>A c.1103C>A (p.Pro368Gln) c.3515C>A (p.Pro1172Gln) c.3512C>A (p.Pro1171Gln) c.3500C>A (p.Pro1167Gln) c.3488C>A (p.Pro1163Gln) c.3455C>A (p.Pro1152Gln) c.3398C>A (p.Pro1133Gln) c.3497C>A (p.Pro1166Gln) c.3473C>A (p.Pro1158Gln) c.3308C>A (p.Pro1103Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986083del | CA2643667704 | ATP13A2 | c.*142del (n.*142del) c.3383del (p.Pro1128HisfsTer?) n.1731del c.1103del (p.Pro368HisfsTer?) c.3515del (p.Pro1172HisfsTer?) c.3512del (p.Pro1171HisfsTer?) c.3500del (p.Pro1167HisfsTer?) c.3488del (p.Pro1163HisfsTer?) c.3455del (p.Pro1152HisfsTer?) c.3398del (p.Pro1133HisfsTer?) c.3497del (p.Pro1166HisfsTer?) c.3473del (p.Pro1158HisfsTer?) c.3308del (p.Pro1103HisfsTer?) | gnomAD v4 |
1 | g.16986080G>A | CA338230674 | ATP13A2 | c.*141C>T (n.*141C>T) c.3382C>T (p.Pro1128Ser) n.1730C>T c.1102C>T (p.Pro368Ser) c.3514C>T (p.Pro1172Ser) c.3511C>T (p.Pro1171Ser) c.3499C>T (p.Pro1167Ser) c.3487C>T (p.Pro1163Ser) c.3454C>T (p.Pro1152Ser) c.3397C>T (p.Pro1133Ser) c.3496C>T (p.Pro1166Ser) c.3472C>T (p.Pro1158Ser) c.3307C>T (p.Pro1103Ser) | |
1 | g.16986080G>C | CA338230676 | ATP13A2 | c.*141C>G (n.*141C>G) c.3382C>G (p.Pro1128Ala) n.1730C>G c.1102C>G (p.Pro368Ala) c.3514C>G (p.Pro1172Ala) c.3511C>G (p.Pro1171Ala) c.3499C>G (p.Pro1167Ala) c.3487C>G (p.Pro1163Ala) c.3454C>G (p.Pro1152Ala) c.3397C>G (p.Pro1133Ala) c.3496C>G (p.Pro1166Ala) c.3472C>G (p.Pro1158Ala) c.3307C>G (p.Pro1103Ala) | |
1 | g.16986080G>T | CA338230678 | ATP13A2 | c.*141C>A (n.*141C>A) c.3382C>A (p.Pro1128Thr) n.1730C>A c.1102C>A (p.Pro368Thr) c.3514C>A (p.Pro1172Thr) c.3511C>A (p.Pro1171Thr) c.3499C>A (p.Pro1167Thr) c.3487C>A (p.Pro1163Thr) c.3454C>A (p.Pro1152Thr) c.3397C>A (p.Pro1133Thr) c.3496C>A (p.Pro1166Thr) c.3472C>A (p.Pro1158Thr) c.3307C>A (p.Pro1103Thr) | |
1 | g.16986081G>C | CA636419 | ATP13A2 | c.*140C>G (n.*140C>G) c.3381C>G (p.Pro1127=) n.1729C>G c.1101C>G (p.Pro367=) c.3513C>G (p.Pro1171=) c.3510C>G (p.Pro1170=) c.3498C>G (p.Pro1166=) c.3486C>G (p.Pro1162=) c.3453C>G (p.Pro1151=) c.3396C>G (p.Pro1132=) c.3495C>G (p.Pro1165=) c.3471C>G (p.Pro1157=) c.3306C>G (p.Pro1102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986081G= | CA1146542995 | ATP13A2 | c.*140C= (n.*140C=) c.3381C= (p.Pro1127=) n.1729C= c.1101C= (p.Pro367=) c.3513C= (p.Pro1171=) c.3510C= (p.Pro1170=) c.3498C= (p.Pro1166=) c.3486C= (p.Pro1162=) c.3453C= (p.Pro1151=) c.3396C= (p.Pro1132=) c.3495C= (p.Pro1165=) c.3471C= (p.Pro1157=) c.3306C= (p.Pro1102=) | |
1 | g.16986082G>A | CA18624343 | ATP13A2 | c.*139C>T (n.*139C>T) c.3380C>T (p.Pro1127Leu) n.1728C>T c.1100C>T (p.Pro367Leu) c.3512C>T (p.Pro1171Leu) c.3509C>T (p.Pro1170Leu) c.3497C>T (p.Pro1166Leu) c.3485C>T (p.Pro1162Leu) c.3452C>T (p.Pro1151Leu) c.3395C>T (p.Pro1132Leu) c.3494C>T (p.Pro1165Leu) c.3470C>T (p.Pro1157Leu) c.3305C>T (p.Pro1102Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986082G>C | CA338230681 | ATP13A2 | c.*139C>G (n.*139C>G) c.3380C>G (p.Pro1127Arg) n.1728C>G c.1100C>G (p.Pro367Arg) c.3512C>G (p.Pro1171Arg) c.3509C>G (p.Pro1170Arg) c.3497C>G (p.Pro1166Arg) c.3485C>G (p.Pro1162Arg) c.3452C>G (p.Pro1151Arg) c.3395C>G (p.Pro1132Arg) c.3494C>G (p.Pro1165Arg) c.3470C>G (p.Pro1157Arg) c.3305C>G (p.Pro1102Arg) | |
1 | g.16986082G= | CA1156048808 | ATP13A2 | c.*139C= (n.*139C=) c.3380C= (p.Pro1127=) n.1728C= c.1100C= (p.Pro367=) c.3512C= (p.Pro1171=) c.3509C= (p.Pro1170=) c.3497C= (p.Pro1166=) c.3485C= (p.Pro1162=) c.3452C= (p.Pro1151=) c.3395C= (p.Pro1132=) c.3494C= (p.Pro1165=) c.3470C= (p.Pro1157=) c.3305C= (p.Pro1102=) | |
1 | g.16986082G>T | CA338230682 | ATP13A2 | c.*139C>A (n.*139C>A) c.3380C>A (p.Pro1127His) n.1728C>A c.1100C>A (p.Pro367His) c.3512C>A (p.Pro1171His) c.3509C>A (p.Pro1170His) c.3497C>A (p.Pro1166His) c.3485C>A (p.Pro1162His) c.3452C>A (p.Pro1151His) c.3395C>A (p.Pro1132His) c.3494C>A (p.Pro1165His) c.3470C>A (p.Pro1157His) c.3305C>A (p.Pro1102His) | |
1 | g.16986083G>A | CA338230685 | ATP13A2 | c.*138C>T (n.*138C>T) c.3379C>T (p.Pro1127Ser) n.1727C>T c.1099C>T (p.Pro367Ser) c.3511C>T (p.Pro1171Ser) c.3508C>T (p.Pro1170Ser) c.3496C>T (p.Pro1166Ser) c.3484C>T (p.Pro1162Ser) c.3451C>T (p.Pro1151Ser) c.3394C>T (p.Pro1132Ser) c.3493C>T (p.Pro1165Ser) c.3469C>T (p.Pro1157Ser) c.3304C>T (p.Pro1102Ser) | ClinVar |
1 | g.16986083G>C | CA338230683 | ATP13A2 | c.*138C>G (n.*138C>G) c.3379C>G (p.Pro1127Ala) n.1727C>G c.1099C>G (p.Pro367Ala) c.3511C>G (p.Pro1171Ala) c.3508C>G (p.Pro1170Ala) c.3496C>G (p.Pro1166Ala) c.3484C>G (p.Pro1162Ala) c.3451C>G (p.Pro1151Ala) c.3394C>G (p.Pro1132Ala) c.3493C>G (p.Pro1165Ala) c.3469C>G (p.Pro1157Ala) c.3304C>G (p.Pro1102Ala) | |
1 | g.16986083G= | CA1156048815 | ATP13A2 | c.*138C= (n.*138C=) c.3379C= (p.Pro1127=) n.1727C= c.1099C= (p.Pro367=) c.3511C= (p.Pro1171=) c.3508C= (p.Pro1170=) c.3496C= (p.Pro1166=) c.3484C= (p.Pro1162=) c.3451C= (p.Pro1151=) c.3394C= (p.Pro1132=) c.3493C= (p.Pro1165=) c.3469C= (p.Pro1157=) c.3304C= (p.Pro1102=) | |
1 | g.16986083G>T | CA636420 | ATP13A2 | c.*138C>A (n.*138C>A) c.3379C>A (p.Pro1127Thr) n.1727C>A c.1099C>A (p.Pro367Thr) c.3511C>A (p.Pro1171Thr) c.3508C>A (p.Pro1170Thr) c.3496C>A (p.Pro1166Thr) c.3484C>A (p.Pro1162Thr) c.3451C>A (p.Pro1151Thr) c.3394C>A (p.Pro1132Thr) c.3493C>A (p.Pro1165Thr) c.3469C>A (p.Pro1157Thr) c.3304C>A (p.Pro1102Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.16986084T>A | CA890928313 | ATP13A2 | c.*137A>T (n.*137A>T) c.3378A>T (p.Pro1126=) n.1726A>T c.1098A>T (p.Pro366=) c.3510A>T (p.Pro1170=) c.3507A>T (p.Pro1169=) c.3495A>T (p.Pro1165=) c.3483A>T (p.Pro1161=) c.3450A>T (p.Pro1150=) c.3393A>T (p.Pro1131=) c.3492A>T (p.Pro1164=) c.3468A>T (p.Pro1156=) c.3303A>T (p.Pro1101=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.16986084T>C | CA636421 | ATP13A2 | c.*137A>G (n.*137A>G) c.3378A>G (p.Pro1126=) n.1726A>G c.1098A>G (p.Pro366=) c.3510A>G (p.Pro1170=) c.3507A>G (p.Pro1169=) c.3495A>G (p.Pro1165=) c.3483A>G (p.Pro1161=) c.3450A>G (p.Pro1150=) c.3393A>G (p.Pro1131=) c.3492A>G (p.Pro1164=) c.3468A>G (p.Pro1156=) c.3303A>G (p.Pro1101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986084T>G | CA2643667730 | ATP13A2 | c.*137A>C (n.*137A>C) c.3378A>C (p.Pro1126=) n.1726A>C c.1098A>C (p.Pro366=) c.3510A>C (p.Pro1170=) c.3507A>C (p.Pro1169=) c.3495A>C (p.Pro1165=) c.3483A>C (p.Pro1161=) c.3450A>C (p.Pro1150=) c.3393A>C (p.Pro1131=) c.3492A>C (p.Pro1164=) c.3468A>C (p.Pro1156=) c.3303A>C (p.Pro1101=) | dbSNP gnomAD v4 |
1 | g.16986084T= | CA1143558522 | ATP13A2 | c.*137A= (n.*137A=) c.3378A= (p.Pro1126=) n.1726A= c.1098A= (p.Pro366=) c.3510A= (p.Pro1170=) c.3507A= (p.Pro1169=) c.3495A= (p.Pro1165=) c.3483A= (p.Pro1161=) c.3450A= (p.Pro1150=) c.3393A= (p.Pro1131=) c.3492A= (p.Pro1164=) c.3468A= (p.Pro1156=) c.3303A= (p.Pro1101=) | |
1 | g.16986085G>A | CA338230686 | ATP13A2 | c.*136C>T (n.*136C>T) c.3377C>T (p.Pro1126Leu) n.1725C>T c.1097C>T (p.Pro366Leu) c.3509C>T (p.Pro1170Leu) c.3506C>T (p.Pro1169Leu) c.3494C>T (p.Pro1165Leu) c.3482C>T (p.Pro1161Leu) c.3449C>T (p.Pro1150Leu) c.3392C>T (p.Pro1131Leu) c.3491C>T (p.Pro1164Leu) c.3467C>T (p.Pro1156Leu) c.3302C>T (p.Pro1101Leu) | |
1 | g.16986085G>C | CA338230687 | ATP13A2 | c.*136C>G (n.*136C>G) c.3377C>G (p.Pro1126Arg) n.1725C>G c.1097C>G (p.Pro366Arg) c.3509C>G (p.Pro1170Arg) c.3506C>G (p.Pro1169Arg) c.3494C>G (p.Pro1165Arg) c.3482C>G (p.Pro1161Arg) c.3449C>G (p.Pro1150Arg) c.3392C>G (p.Pro1131Arg) c.3491C>G (p.Pro1164Arg) c.3467C>G (p.Pro1156Arg) c.3302C>G (p.Pro1101Arg) | dbSNP |
1 | g.16986085G= | CA1156048818 | ATP13A2 | c.*136C= (n.*136C=) c.3377C= (p.Pro1126=) n.1725C= c.1097C= (p.Pro366=) c.3509C= (p.Pro1170=) c.3506C= (p.Pro1169=) c.3494C= (p.Pro1165=) c.3482C= (p.Pro1161=) c.3449C= (p.Pro1150=) c.3392C= (p.Pro1131=) c.3491C= (p.Pro1164=) c.3467C= (p.Pro1156=) c.3302C= (p.Pro1101=) | |
1 | g.16986085G>T | CA338230689 | ATP13A2 | c.*136C>A (n.*136C>A) c.3377C>A (p.Pro1126Gln) n.1725C>A c.1097C>A (p.Pro366Gln) c.3509C>A (p.Pro1170Gln) c.3506C>A (p.Pro1169Gln) c.3494C>A (p.Pro1165Gln) c.3482C>A (p.Pro1161Gln) c.3449C>A (p.Pro1150Gln) c.3392C>A (p.Pro1131Gln) c.3491C>A (p.Pro1164Gln) c.3467C>A (p.Pro1156Gln) c.3302C>A (p.Pro1101Gln) | |
1 | g.16986086G>A | CA338230690 | ATP13A2 | c.*135C>T (n.*135C>T) c.3376C>T (p.Pro1126Ser) n.1724C>T c.1096C>T (p.Pro366Ser) c.3508C>T (p.Pro1170Ser) c.3505C>T (p.Pro1169Ser) c.3493C>T (p.Pro1165Ser) c.3481C>T (p.Pro1161Ser) c.3448C>T (p.Pro1150Ser) c.3391C>T (p.Pro1131Ser) c.3490C>T (p.Pro1164Ser) c.3466C>T (p.Pro1156Ser) c.3301C>T (p.Pro1101Ser) | |
1 | g.16986086G>C | CA338230691 | ATP13A2 | c.*135C>G (n.*135C>G) c.3376C>G (p.Pro1126Ala) n.1724C>G c.1096C>G (p.Pro366Ala) c.3508C>G (p.Pro1170Ala) c.3505C>G (p.Pro1169Ala) c.3493C>G (p.Pro1165Ala) c.3481C>G (p.Pro1161Ala) c.3448C>G (p.Pro1150Ala) c.3391C>G (p.Pro1131Ala) c.3490C>G (p.Pro1164Ala) c.3466C>G (p.Pro1156Ala) c.3301C>G (p.Pro1101Ala) | |
1 | g.16986086G>T | CA338230693 | ATP13A2 | c.*135C>A (n.*135C>A) c.3376C>A (p.Pro1126Thr) n.1724C>A c.1096C>A (p.Pro366Thr) c.3508C>A (p.Pro1170Thr) c.3505C>A (p.Pro1169Thr) c.3493C>A (p.Pro1165Thr) c.3481C>A (p.Pro1161Thr) c.3448C>A (p.Pro1150Thr) c.3391C>A (p.Pro1131Thr) c.3490C>A (p.Pro1164Thr) c.3466C>A (p.Pro1156Thr) c.3301C>A (p.Pro1101Thr) | |
1 | g.16986087T>A | CA338230694 | ATP13A2 | c.*134A>T (n.*134A>T) c.3375A>T (p.Arg1125Ser) n.1723A>T c.1095A>T (p.Arg365Ser) c.3507A>T (p.Arg1169Ser) c.3504A>T (p.Arg1168Ser) c.3492A>T (p.Arg1164Ser) c.3480A>T (p.Arg1160Ser) c.3447A>T (p.Arg1149Ser) c.3390A>T (p.Arg1130Ser) c.3489A>T (p.Arg1163Ser) c.3465A>T (p.Arg1155Ser) c.3300A>T (p.Arg1100Ser) | gnomAD v4 |
1 | g.16986087T>C | CA2643667733 | ATP13A2 | c.*134A>G (n.*134A>G) c.3375A>G (p.Arg1125=) n.1723A>G c.1095A>G (p.Arg365=) c.3507A>G (p.Arg1169=) c.3504A>G (p.Arg1168=) c.3492A>G (p.Arg1164=) c.3480A>G (p.Arg1160=) c.3447A>G (p.Arg1149=) c.3390A>G (p.Arg1130=) c.3489A>G (p.Arg1163=) c.3465A>G (p.Arg1155=) c.3300A>G (p.Arg1100=) | gnomAD v4 |
1 | g.16986087T>G | CA338230695 | ATP13A2 | c.*134A>C (n.*134A>C) c.3375A>C (p.Arg1125Ser) n.1723A>C c.1095A>C (p.Arg365Ser) c.3507A>C (p.Arg1169Ser) c.3504A>C (p.Arg1168Ser) c.3492A>C (p.Arg1164Ser) c.3480A>C (p.Arg1160Ser) c.3447A>C (p.Arg1149Ser) c.3390A>C (p.Arg1130Ser) c.3489A>C (p.Arg1163Ser) c.3465A>C (p.Arg1155Ser) c.3300A>C (p.Arg1100Ser) | dbSNP |
1 | g.16986088C>A | CA338230697 | ATP13A2 | c.*133G>T (n.*133G>T) c.3374G>T (p.Arg1125Ile) n.1722G>T c.1094G>T (p.Arg365Ile) c.3506G>T (p.Arg1169Ile) c.3503G>T (p.Arg1168Ile) c.3491G>T (p.Arg1164Ile) c.3479G>T (p.Arg1160Ile) c.3446G>T (p.Arg1149Ile) c.3389G>T (p.Arg1130Ile) c.3488G>T (p.Arg1163Ile) c.3464G>T (p.Arg1155Ile) c.3299G>T (p.Arg1100Ile) | gnomAD v4 |
1 | g.16986088C>G | CA338230698 | ATP13A2 | c.*133G>C (n.*133G>C) c.3374G>C (p.Arg1125Thr) n.1722G>C c.1094G>C (p.Arg365Thr) c.3506G>C (p.Arg1169Thr) c.3503G>C (p.Arg1168Thr) c.3491G>C (p.Arg1164Thr) c.3479G>C (p.Arg1160Thr) c.3446G>C (p.Arg1149Thr) c.3389G>C (p.Arg1130Thr) c.3488G>C (p.Arg1163Thr) c.3464G>C (p.Arg1155Thr) c.3299G>C (p.Arg1100Thr) | |
1 | g.16986088C>T | CA338230699 | ATP13A2 | c.*133G>A (n.*133G>A) c.3374G>A (p.Arg1125Lys) n.1722G>A c.1094G>A (p.Arg365Lys) c.3506G>A (p.Arg1169Lys) c.3503G>A (p.Arg1168Lys) c.3491G>A (p.Arg1164Lys) c.3479G>A (p.Arg1160Lys) c.3446G>A (p.Arg1149Lys) c.3389G>A (p.Arg1130Lys) c.3488G>A (p.Arg1163Lys) c.3464G>A (p.Arg1155Lys) c.3299G>A (p.Arg1100Lys) | gnomAD v4 |
1 | g.16986088_16986089insAG | CA2643667745 | ATP13A2 | c.*132_*133insCT (n.*132_*133insCT) c.3373_3374insCT (p.Arg1125ThrfsTer?) n.1721_1722insCT c.1093_1094insCT (p.Arg365ThrfsTer?) c.3505_3506insCT (p.Arg1169ThrfsTer?) c.3502_3503insCT (p.Arg1168ThrfsTer?) c.3490_3491insCT (p.Arg1164ThrfsTer?) c.3478_3479insCT (p.Arg1160ThrfsTer?) c.3445_3446insCT (p.Arg1149ThrfsTer?) c.3388_3389insCT (p.Arg1130ThrfsTer?) c.3487_3488insCT (p.Arg1163ThrfsTer?) c.3463_3464insCT (p.Arg1155ThrfsTer?) c.3298_3299insCT (p.Arg1100ThrfsTer?) | gnomAD v4 |
1 | g.16986088_16986089insAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGG | CA2643667747 | ATP13A2 | c.*132_*133insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (n.*132_*133insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT) c.3373_3374insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1125ThrfsTer7) n.1721_1722insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT c.1093_1094insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg365ThrfsTer7) c.3505_3506insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1169ThrfsTer7) c.3502_3503insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1168ThrfsTer7) c.3490_3491insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1164ThrfsTer7) c.3478_3479insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1160ThrfsTer7) c.3445_3446insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1149ThrfsTer7) c.3388_3389insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1130ThrfsTer7) c.3487_3488insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1163ThrfsTer7) c.3463_3464insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1155ThrfsTer7) c.3298_3299insCCCTGGCCCAGCCATGGTGAGTAGGGAGCTGACT (p.Arg1100ThrfsTer7) | gnomAD v4 |
1 | g.16986089T>A | CA338230702 | ATP13A2 | c.*132A>T (n.*132A>T) c.3373A>T (p.Arg1125Ter) n.1721A>T c.1093A>T (p.Arg365Ter) c.3505A>T (p.Arg1169Ter) c.3502A>T (p.Arg1168Ter) c.3490A>T (p.Arg1164Ter) c.3478A>T (p.Arg1160Ter) c.3445A>T (p.Arg1149Ter) c.3388A>T (p.Arg1130Ter) c.3487A>T (p.Arg1163Ter) c.3463A>T (p.Arg1155Ter) c.3298A>T (p.Arg1100Ter) | |
1 | g.16986089T>C | CA338230701 | ATP13A2 | c.*132A>G (n.*132A>G) c.3373A>G (p.Arg1125Gly) n.1721A>G c.1093A>G (p.Arg365Gly) c.3505A>G (p.Arg1169Gly) c.3502A>G (p.Arg1168Gly) c.3490A>G (p.Arg1164Gly) c.3478A>G (p.Arg1160Gly) c.3445A>G (p.Arg1149Gly) c.3388A>G (p.Arg1130Gly) c.3487A>G (p.Arg1163Gly) c.3463A>G (p.Arg1155Gly) c.3298A>G (p.Arg1100Gly) | |
1 | g.16986089T>G | CA2643667748 | ATP13A2 | c.*132A>C (n.*132A>C) c.3373A>C (p.Arg1125=) n.1721A>C c.1093A>C (p.Arg365=) c.3505A>C (p.Arg1169=) c.3502A>C (p.Arg1168=) c.3490A>C (p.Arg1164=) c.3478A>C (p.Arg1160=) c.3445A>C (p.Arg1149=) c.3388A>C (p.Arg1130=) c.3487A>C (p.Arg1163=) c.3463A>C (p.Arg1155=) c.3298A>C (p.Arg1100=) | dbSNP gnomAD v4 |
1 | g.16986090C>A | CA636422 | ATP13A2 | c.*131G>T (n.*131G>T) c.3372G>T (p.Pro1124=) n.1720G>T c.1092G>T (p.Pro364=) c.3504G>T (p.Pro1168=) c.3501G>T (p.Pro1167=) c.3489G>T (p.Pro1163=) c.3477G>T (p.Pro1159=) c.3444G>T (p.Pro1148=) c.3387G>T (p.Pro1129=) c.3486G>T (p.Pro1162=) c.3462G>T (p.Pro1154=) c.3297G>T (p.Pro1099=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.16986090C= | CA1156048821 | ATP13A2 | c.*131G= (n.*131G=) c.3372G= (p.Pro1124=) n.1720G= c.1092G= (p.Pro364=) c.3504G= (p.Pro1168=) c.3501G= (p.Pro1167=) c.3489G= (p.Pro1163=) c.3477G= (p.Pro1159=) c.3444G= (p.Pro1148=) c.3387G= (p.Pro1129=) c.3486G= (p.Pro1162=) c.3462G= (p.Pro1154=) c.3297G= (p.Pro1099=) | |
1 | g.16986090C>T | CA18624367 | ATP13A2 | c.*131G>A (n.*131G>A) c.3372G>A (p.Pro1124=) n.1720G>A c.1092G>A (p.Pro364=) c.3504G>A (p.Pro1168=) c.3501G>A (p.Pro1167=) c.3489G>A (p.Pro1163=) c.3477G>A (p.Pro1159=) c.3444G>A (p.Pro1148=) c.3387G>A (p.Pro1129=) c.3486G>A (p.Pro1162=) c.3462G>A (p.Pro1154=) c.3297G>A (p.Pro1099=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986091G>A | CA636423 | ATP13A2 | c.*130C>T (n.*130C>T) c.3371C>T (p.Pro1124Leu) n.1719C>T c.1091C>T (p.Pro364Leu) c.3503C>T (p.Pro1168Leu) c.3500C>T (p.Pro1167Leu) c.3488C>T (p.Pro1163Leu) c.3476C>T (p.Pro1159Leu) c.3443C>T (p.Pro1148Leu) c.3386C>T (p.Pro1129Leu) c.3485C>T (p.Pro1162Leu) c.3461C>T (p.Pro1154Leu) c.3296C>T (p.Pro1099Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986091G>C | CA338230704 | ATP13A2 | c.*130C>G (n.*130C>G) c.3371C>G (p.Pro1124Arg) n.1719C>G c.1091C>G (p.Pro364Arg) c.3503C>G (p.Pro1168Arg) c.3500C>G (p.Pro1167Arg) c.3488C>G (p.Pro1163Arg) c.3476C>G (p.Pro1159Arg) c.3443C>G (p.Pro1148Arg) c.3386C>G (p.Pro1129Arg) c.3485C>G (p.Pro1162Arg) c.3461C>G (p.Pro1154Arg) c.3296C>G (p.Pro1099Arg) | dbSNP gnomAD v4 |
1 | g.16986091G= | CA1143061182 | ATP13A2 | c.*130C= (n.*130C=) c.3371C= (p.Pro1124=) n.1719C= c.1091C= (p.Pro364=) c.3503C= (p.Pro1168=) c.3500C= (p.Pro1167=) c.3488C= (p.Pro1163=) c.3476C= (p.Pro1159=) c.3443C= (p.Pro1148=) c.3386C= (p.Pro1129=) c.3485C= (p.Pro1162=) c.3461C= (p.Pro1154=) c.3296C= (p.Pro1099=) | |
1 | g.16986091G>T | CA338230707 | ATP13A2 | c.*130C>A (n.*130C>A) c.3371C>A (p.Pro1124Gln) n.1719C>A c.1091C>A (p.Pro364Gln) c.3503C>A (p.Pro1168Gln) c.3500C>A (p.Pro1167Gln) c.3488C>A (p.Pro1163Gln) c.3476C>A (p.Pro1159Gln) c.3443C>A (p.Pro1148Gln) c.3386C>A (p.Pro1129Gln) c.3485C>A (p.Pro1162Gln) c.3461C>A (p.Pro1154Gln) c.3296C>A (p.Pro1099Gln) | gnomAD v4 |
1 | g.16986095del | CA2643667759 | ATP13A2 | c.*130del (n.*130del) c.3371del (p.Pro1124ArgfsTer?) n.1719del c.1091del (p.Pro364ArgfsTer?) c.3503del (p.Pro1168ArgfsTer?) c.3500del (p.Pro1167ArgfsTer?) c.3488del (p.Pro1163ArgfsTer?) c.3476del (p.Pro1159ArgfsTer?) c.3443del (p.Pro1148ArgfsTer?) c.3386del (p.Pro1129ArgfsTer?) c.3485del (p.Pro1162ArgfsTer?) c.3461del (p.Pro1154ArgfsTer?) c.3296del (p.Pro1099ArgfsTer?) | gnomAD v4 |
1 | g.16986092G>A | CA338230713 | ATP13A2 | c.*129C>T (n.*129C>T) c.3370C>T (p.Pro1124Ser) n.1718C>T c.1090C>T (p.Pro364Ser) c.3502C>T (p.Pro1168Ser) c.3499C>T (p.Pro1167Ser) c.3487C>T (p.Pro1163Ser) c.3475C>T (p.Pro1159Ser) c.3442C>T (p.Pro1148Ser) c.3385C>T (p.Pro1129Ser) c.3484C>T (p.Pro1162Ser) c.3460C>T (p.Pro1154Ser) c.3295C>T (p.Pro1099Ser) | COSMIC |
1 | g.16986092G>C | CA338230715 | ATP13A2 | c.*129C>G (n.*129C>G) c.3370C>G (p.Pro1124Ala) n.1718C>G c.1090C>G (p.Pro364Ala) c.3502C>G (p.Pro1168Ala) c.3499C>G (p.Pro1167Ala) c.3487C>G (p.Pro1163Ala) c.3475C>G (p.Pro1159Ala) c.3442C>G (p.Pro1148Ala) c.3385C>G (p.Pro1129Ala) c.3484C>G (p.Pro1162Ala) c.3460C>G (p.Pro1154Ala) c.3295C>G (p.Pro1099Ala) | |
1 | g.16986092G>T | CA338230714 | ATP13A2 | c.*129C>A (n.*129C>A) c.3370C>A (p.Pro1124Thr) n.1718C>A c.1090C>A (p.Pro364Thr) c.3502C>A (p.Pro1168Thr) c.3499C>A (p.Pro1167Thr) c.3487C>A (p.Pro1163Thr) c.3475C>A (p.Pro1159Thr) c.3442C>A (p.Pro1148Thr) c.3385C>A (p.Pro1129Thr) c.3484C>A (p.Pro1162Thr) c.3460C>A (p.Pro1154Thr) c.3295C>A (p.Pro1099Thr) | |
1 | g.16986093G>A | CA18624378 | ATP13A2 | c.*128C>T (n.*128C>T) c.3369C>T (p.Pro1123=) n.1717C>T c.1089C>T (p.Pro363=) c.3501C>T (p.Pro1167=) c.3498C>T (p.Pro1166=) c.3486C>T (p.Pro1162=) c.3474C>T (p.Pro1158=) c.3441C>T (p.Pro1147=) c.3384C>T (p.Pro1128=) c.3483C>T (p.Pro1161=) c.3459C>T (p.Pro1153=) c.3294C>T (p.Pro1098=) | dbSNP gnomAD v4 |
1 | g.16986093G= | CA1146766513 | ATP13A2 | c.*128C= (n.*128C=) c.3369C= (p.Pro1123=) n.1717C= c.1089C= (p.Pro363=) c.3501C= (p.Pro1167=) c.3498C= (p.Pro1166=) c.3486C= (p.Pro1162=) c.3474C= (p.Pro1158=) c.3441C= (p.Pro1147=) c.3384C= (p.Pro1128=) c.3483C= (p.Pro1161=) c.3459C= (p.Pro1153=) c.3294C= (p.Pro1098=) | |
1 | g.16986094G>A | CA338230719 | ATP13A2 | c.*127C>T (n.*127C>T) c.3368C>T (p.Pro1123Leu) n.1716C>T c.1088C>T (p.Pro363Leu) c.3500C>T (p.Pro1167Leu) c.3497C>T (p.Pro1166Leu) c.3485C>T (p.Pro1162Leu) c.3473C>T (p.Pro1158Leu) c.3440C>T (p.Pro1147Leu) c.3383C>T (p.Pro1128Leu) c.3482C>T (p.Pro1161Leu) c.3458C>T (p.Pro1153Leu) c.3293C>T (p.Pro1098Leu) | |
1 | g.16986094G>C | CA338230721 | ATP13A2 | c.*127C>G (n.*127C>G) c.3368C>G (p.Pro1123Arg) n.1716C>G c.1088C>G (p.Pro363Arg) c.3500C>G (p.Pro1167Arg) c.3497C>G (p.Pro1166Arg) c.3485C>G (p.Pro1162Arg) c.3473C>G (p.Pro1158Arg) c.3440C>G (p.Pro1147Arg) c.3383C>G (p.Pro1128Arg) c.3482C>G (p.Pro1161Arg) c.3458C>G (p.Pro1153Arg) c.3293C>G (p.Pro1098Arg) | |
1 | g.16986094G>T | CA338230724 | ATP13A2 | c.*127C>A (n.*127C>A) c.3368C>A (p.Pro1123His) n.1716C>A c.1088C>A (p.Pro363His) c.3500C>A (p.Pro1167His) c.3497C>A (p.Pro1166His) c.3485C>A (p.Pro1162His) c.3473C>A (p.Pro1158His) c.3440C>A (p.Pro1147His) c.3383C>A (p.Pro1128His) c.3482C>A (p.Pro1161His) c.3458C>A (p.Pro1153His) c.3293C>A (p.Pro1098His) | |
1 | g.16986095G>A | CA636424 | ATP13A2 | c.*126C>T (n.*126C>T) c.3367C>T (p.Pro1123Ser) n.1715C>T c.1087C>T (p.Pro363Ser) c.3499C>T (p.Pro1167Ser) c.3496C>T (p.Pro1166Ser) c.3484C>T (p.Pro1162Ser) c.3472C>T (p.Pro1158Ser) c.3439C>T (p.Pro1147Ser) c.3382C>T (p.Pro1128Ser) c.3481C>T (p.Pro1161Ser) c.3457C>T (p.Pro1153Ser) c.3292C>T (p.Pro1098Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986095G>C | CA338230726 | ATP13A2 | c.*126C>G (n.*126C>G) c.3367C>G (p.Pro1123Ala) n.1715C>G c.1087C>G (p.Pro363Ala) c.3499C>G (p.Pro1167Ala) c.3496C>G (p.Pro1166Ala) c.3484C>G (p.Pro1162Ala) c.3472C>G (p.Pro1158Ala) c.3439C>G (p.Pro1147Ala) c.3382C>G (p.Pro1128Ala) c.3481C>G (p.Pro1161Ala) c.3457C>G (p.Pro1153Ala) c.3292C>G (p.Pro1098Ala) | |
1 | g.16986095G= | CA1156048832 | ATP13A2 | c.*126C= (n.*126C=) c.3367C= (p.Pro1123=) n.1715C= c.1087C= (p.Pro363=) c.3499C= (p.Pro1167=) c.3496C= (p.Pro1166=) c.3484C= (p.Pro1162=) c.3472C= (p.Pro1158=) c.3439C= (p.Pro1147=) c.3382C= (p.Pro1128=) c.3481C= (p.Pro1161=) c.3457C= (p.Pro1153=) c.3292C= (p.Pro1098=) | |
1 | g.16986095G>T | CA338230729 | ATP13A2 | c.*126C>A (n.*126C>A) c.3367C>A (p.Pro1123Thr) n.1715C>A c.1087C>A (p.Pro363Thr) c.3499C>A (p.Pro1167Thr) c.3496C>A (p.Pro1166Thr) c.3484C>A (p.Pro1162Thr) c.3472C>A (p.Pro1158Thr) c.3439C>A (p.Pro1147Thr) c.3382C>A (p.Pro1128Thr) c.3481C>A (p.Pro1161Thr) c.3457C>A (p.Pro1153Thr) c.3292C>A (p.Pro1098Thr) | gnomAD v4 |
1 | g.16986096A>G | CA2643667774 | ATP13A2 | c.*125T>C (n.*125T>C) c.3366T>C (p.Pro1122=) n.1714T>C c.1086T>C (p.Pro362=) c.3498T>C (p.Pro1166=) c.3495T>C (p.Pro1165=) c.3483T>C (p.Pro1161=) c.3471T>C (p.Pro1157=) c.3438T>C (p.Pro1146=) c.3381T>C (p.Pro1127=) c.3480T>C (p.Pro1160=) c.3456T>C (p.Pro1152=) c.3291T>C (p.Pro1097=) | gnomAD v4 |
1 | g.16986097G>A | CA636425 | ATP13A2 | c.*124C>T (n.*124C>T) c.3365C>T (p.Pro1122Leu) n.1713C>T c.1085C>T (p.Pro362Leu) c.3497C>T (p.Pro1166Leu) c.3494C>T (p.Pro1165Leu) c.3482C>T (p.Pro1161Leu) c.3470C>T (p.Pro1157Leu) c.3437C>T (p.Pro1146Leu) c.3380C>T (p.Pro1127Leu) c.3479C>T (p.Pro1160Leu) c.3455C>T (p.Pro1152Leu) c.3290C>T (p.Pro1097Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986097G>C | CA338230732 | ATP13A2 | c.*124C>G (n.*124C>G) c.3365C>G (p.Pro1122Arg) n.1713C>G c.1085C>G (p.Pro362Arg) c.3497C>G (p.Pro1166Arg) c.3494C>G (p.Pro1165Arg) c.3482C>G (p.Pro1161Arg) c.3470C>G (p.Pro1157Arg) c.3437C>G (p.Pro1146Arg) c.3380C>G (p.Pro1127Arg) c.3479C>G (p.Pro1160Arg) c.3455C>G (p.Pro1152Arg) c.3290C>G (p.Pro1097Arg) | |
1 | g.16986097G= | CA1139774218 | ATP13A2 | c.*124C= (n.*124C=) c.3365C= (p.Pro1122=) n.1713C= c.1085C= (p.Pro362=) c.3497C= (p.Pro1166=) c.3494C= (p.Pro1165=) c.3482C= (p.Pro1161=) c.3470C= (p.Pro1157=) c.3437C= (p.Pro1146=) c.3380C= (p.Pro1127=) c.3479C= (p.Pro1160=) c.3455C= (p.Pro1152=) c.3290C= (p.Pro1097=) | |
1 | g.16986097G>T | CA338230734 | ATP13A2 | c.*124C>A (n.*124C>A) c.3365C>A (p.Pro1122His) n.1713C>A c.1085C>A (p.Pro362His) c.3497C>A (p.Pro1166His) c.3494C>A (p.Pro1165His) c.3482C>A (p.Pro1161His) c.3470C>A (p.Pro1157His) c.3437C>A (p.Pro1146His) c.3380C>A (p.Pro1127His) c.3479C>A (p.Pro1160His) c.3455C>A (p.Pro1152His) c.3290C>A (p.Pro1097His) | |
1 | g.16986098G>A | CA338230740 | ATP13A2 | c.*123C>T (n.*123C>T) c.3364C>T (p.Pro1122Ser) n.1712C>T c.1084C>T (p.Pro362Ser) c.3496C>T (p.Pro1166Ser) c.3493C>T (p.Pro1165Ser) c.3481C>T (p.Pro1161Ser) c.3469C>T (p.Pro1157Ser) c.3436C>T (p.Pro1146Ser) c.3379C>T (p.Pro1127Ser) c.3478C>T (p.Pro1160Ser) c.3454C>T (p.Pro1152Ser) c.3289C>T (p.Pro1097Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986098G>C | CA338230738 | ATP13A2 | c.*123C>G (n.*123C>G) c.3364C>G (p.Pro1122Ala) n.1712C>G c.1084C>G (p.Pro362Ala) c.3496C>G (p.Pro1166Ala) c.3493C>G (p.Pro1165Ala) c.3481C>G (p.Pro1161Ala) c.3469C>G (p.Pro1157Ala) c.3436C>G (p.Pro1146Ala) c.3379C>G (p.Pro1127Ala) c.3478C>G (p.Pro1160Ala) c.3454C>G (p.Pro1152Ala) c.3289C>G (p.Pro1097Ala) | |
1 | g.16986098G= | CA1156048843 | ATP13A2 | c.*123C= (n.*123C=) c.3364C= (p.Pro1122=) n.1712C= c.1084C= (p.Pro362=) c.3496C= (p.Pro1166=) c.3493C= (p.Pro1165=) c.3481C= (p.Pro1161=) c.3469C= (p.Pro1157=) c.3436C= (p.Pro1146=) c.3379C= (p.Pro1127=) c.3478C= (p.Pro1160=) c.3454C= (p.Pro1152=) c.3289C= (p.Pro1097=) | |
1 | g.16986098G>T | CA338230737 | ATP13A2 | c.*123C>A (n.*123C>A) c.3364C>A (p.Pro1122Thr) n.1712C>A c.1084C>A (p.Pro362Thr) c.3496C>A (p.Pro1166Thr) c.3493C>A (p.Pro1165Thr) c.3481C>A (p.Pro1161Thr) c.3469C>A (p.Pro1157Thr) c.3436C>A (p.Pro1146Thr) c.3379C>A (p.Pro1127Thr) c.3478C>A (p.Pro1160Thr) c.3454C>A (p.Pro1152Thr) c.3289C>A (p.Pro1097Thr) | gnomAD v4 |
1 | g.16986099A>T | CA2643667792 | ATP13A2 | c.*122T>A (n.*122T>A) c.3363T>A (p.Thr1121=) n.1711T>A c.1083T>A (p.Thr361=) c.3495T>A (p.Thr1165=) c.3492T>A (p.Thr1164=) c.3480T>A (p.Thr1160=) c.3468T>A (p.Thr1156=) c.3435T>A (p.Thr1145=) c.3378T>A (p.Thr1126=) c.3477T>A (p.Thr1159=) c.3453T>A (p.Thr1151=) c.3288T>A (p.Thr1096=) | gnomAD v4 |
1 | g.16986100G>A | CA338230742 | ATP13A2 | c.*121C>T (n.*121C>T) c.3362C>T (p.Thr1121Ile) n.1710C>T c.1082C>T (p.Thr361Ile) c.3494C>T (p.Thr1165Ile) c.3491C>T (p.Thr1164Ile) c.3479C>T (p.Thr1160Ile) c.3467C>T (p.Thr1156Ile) c.3434C>T (p.Thr1145Ile) c.3377C>T (p.Thr1126Ile) c.3476C>T (p.Thr1159Ile) c.3452C>T (p.Thr1151Ile) c.3287C>T (p.Thr1096Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986100G>C | CA338230744 | ATP13A2 | c.*121C>G (n.*121C>G) c.3362C>G (p.Thr1121Ser) n.1710C>G c.1082C>G (p.Thr361Ser) c.3494C>G (p.Thr1165Ser) c.3491C>G (p.Thr1164Ser) c.3479C>G (p.Thr1160Ser) c.3467C>G (p.Thr1156Ser) c.3434C>G (p.Thr1145Ser) c.3377C>G (p.Thr1126Ser) c.3476C>G (p.Thr1159Ser) c.3452C>G (p.Thr1151Ser) c.3287C>G (p.Thr1096Ser) | |
1 | g.16986100G= | CA1156048851 | ATP13A2 | c.*121C= (n.*121C=) c.3362C= (p.Thr1121=) n.1710C= c.1082C= (p.Thr361=) c.3494C= (p.Thr1165=) c.3491C= (p.Thr1164=) c.3479C= (p.Thr1160=) c.3467C= (p.Thr1156=) c.3434C= (p.Thr1145=) c.3377C= (p.Thr1126=) c.3476C= (p.Thr1159=) c.3452C= (p.Thr1151=) c.3287C= (p.Thr1096=) | |
1 | g.16986100G>T | CA636426 | ATP13A2 | c.*121C>A (n.*121C>A) c.3362C>A (p.Thr1121Asn) n.1710C>A c.1082C>A (p.Thr361Asn) c.3494C>A (p.Thr1165Asn) c.3491C>A (p.Thr1164Asn) c.3479C>A (p.Thr1160Asn) c.3467C>A (p.Thr1156Asn) c.3434C>A (p.Thr1145Asn) c.3377C>A (p.Thr1126Asn) c.3476C>A (p.Thr1159Asn) c.3452C>A (p.Thr1151Asn) c.3287C>A (p.Thr1096Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986101T>A | CA636427 | ATP13A2 | c.*120A>T (n.*120A>T) c.3361A>T (p.Thr1121Ser) n.1709A>T c.1081A>T (p.Thr361Ser) c.3493A>T (p.Thr1165Ser) c.3490A>T (p.Thr1164Ser) c.3478A>T (p.Thr1160Ser) c.3466A>T (p.Thr1156Ser) c.3433A>T (p.Thr1145Ser) c.3376A>T (p.Thr1126Ser) c.3475A>T (p.Thr1159Ser) c.3451A>T (p.Thr1151Ser) c.3286A>T (p.Thr1096Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986101T>C | CA338230748 | ATP13A2 | c.*120A>G (n.*120A>G) c.3361A>G (p.Thr1121Ala) n.1709A>G c.1081A>G (p.Thr361Ala) c.3493A>G (p.Thr1165Ala) c.3490A>G (p.Thr1164Ala) c.3478A>G (p.Thr1160Ala) c.3466A>G (p.Thr1156Ala) c.3433A>G (p.Thr1145Ala) c.3376A>G (p.Thr1126Ala) c.3475A>G (p.Thr1159Ala) c.3451A>G (p.Thr1151Ala) c.3286A>G (p.Thr1096Ala) | gnomAD v4 |
1 | g.16986101T>G | CA338230750 | ATP13A2 | c.*120A>C (n.*120A>C) c.3361A>C (p.Thr1121Pro) n.1709A>C c.1081A>C (p.Thr361Pro) c.3493A>C (p.Thr1165Pro) c.3490A>C (p.Thr1164Pro) c.3478A>C (p.Thr1160Pro) c.3466A>C (p.Thr1156Pro) c.3433A>C (p.Thr1145Pro) c.3376A>C (p.Thr1126Pro) c.3475A>C (p.Thr1159Pro) c.3451A>C (p.Thr1151Pro) c.3286A>C (p.Thr1096Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986101T= | CA1140610299 | ATP13A2 | c.*120A= (n.*120A=) c.3361A= (p.Thr1121=) n.1709A= c.1081A= (p.Thr361=) c.3493A= (p.Thr1165=) c.3490A= (p.Thr1164=) c.3478A= (p.Thr1160=) c.3466A= (p.Thr1156=) c.3433A= (p.Thr1145=) c.3376A= (p.Thr1126=) c.3475A= (p.Thr1159=) c.3451A= (p.Thr1151=) c.3286A= (p.Thr1096=) | |
1 | g.16986102G>A | CA636428 | ATP13A2 | c.*119C>T (n.*119C>T) c.3360C>T (p.Tyr1120=) n.1708C>T c.1080C>T (p.Tyr360=) c.3492C>T (p.Tyr1164=) c.3489C>T (p.Tyr1163=) c.3477C>T (p.Tyr1159=) c.3465C>T (p.Tyr1155=) c.3432C>T (p.Tyr1144=) c.3375C>T (p.Tyr1125=) c.3474C>T (p.Tyr1158=) c.3450C>T (p.Tyr1150=) c.3285C>T (p.Tyr1095=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986102G>C | CA338230753 | ATP13A2 | c.*119C>G (n.*119C>G) c.3360C>G (p.Tyr1120Ter) n.1708C>G c.1080C>G (p.Tyr360Ter) c.3492C>G (p.Tyr1164Ter) c.3489C>G (p.Tyr1163Ter) c.3477C>G (p.Tyr1159Ter) c.3465C>G (p.Tyr1155Ter) c.3432C>G (p.Tyr1144Ter) c.3375C>G (p.Tyr1125Ter) c.3474C>G (p.Tyr1158Ter) c.3450C>G (p.Tyr1150Ter) c.3285C>G (p.Tyr1095Ter) | dbSNP gnomAD v4 |
1 | g.16986102G= | CA1156048862 | ATP13A2 | c.*119C= (n.*119C=) c.3360C= (p.Tyr1120=) n.1708C= c.1080C= (p.Tyr360=) c.3492C= (p.Tyr1164=) c.3489C= (p.Tyr1163=) c.3477C= (p.Tyr1159=) c.3465C= (p.Tyr1155=) c.3432C= (p.Tyr1144=) c.3375C= (p.Tyr1125=) c.3474C= (p.Tyr1158=) c.3450C= (p.Tyr1150=) c.3285C= (p.Tyr1095=) | |
1 | g.16986102G>T | CA338230755 | ATP13A2 | c.*119C>A (n.*119C>A) c.3360C>A (p.Tyr1120Ter) n.1708C>A c.1080C>A (p.Tyr360Ter) c.3492C>A (p.Tyr1164Ter) c.3489C>A (p.Tyr1163Ter) c.3477C>A (p.Tyr1159Ter) c.3465C>A (p.Tyr1155Ter) c.3432C>A (p.Tyr1144Ter) c.3375C>A (p.Tyr1125Ter) c.3474C>A (p.Tyr1158Ter) c.3450C>A (p.Tyr1150Ter) c.3285C>A (p.Tyr1095Ter) | |
1 | g.16986103T>A | CA338230758 | ATP13A2 | c.*118A>T (n.*118A>T) c.3359A>T (p.Tyr1120Phe) n.1707A>T c.1079A>T (p.Tyr360Phe) c.3491A>T (p.Tyr1164Phe) c.3488A>T (p.Tyr1163Phe) c.3476A>T (p.Tyr1159Phe) c.3464A>T (p.Tyr1155Phe) c.3431A>T (p.Tyr1144Phe) c.3374A>T (p.Tyr1125Phe) c.3473A>T (p.Tyr1158Phe) c.3449A>T (p.Tyr1150Phe) c.3284A>T (p.Tyr1095Phe) | |
1 | g.16986103T>C | CA338230759 | ATP13A2 | c.*118A>G (n.*118A>G) c.3359A>G (p.Tyr1120Cys) n.1707A>G c.1079A>G (p.Tyr360Cys) c.3491A>G (p.Tyr1164Cys) c.3488A>G (p.Tyr1163Cys) c.3476A>G (p.Tyr1159Cys) c.3464A>G (p.Tyr1155Cys) c.3431A>G (p.Tyr1144Cys) c.3374A>G (p.Tyr1125Cys) c.3473A>G (p.Tyr1158Cys) c.3449A>G (p.Tyr1150Cys) c.3284A>G (p.Tyr1095Cys) | gnomAD v4 |
1 | g.16986103T>G | CA338230761 | ATP13A2 | c.*118A>C (n.*118A>C) c.3359A>C (p.Tyr1120Ser) n.1707A>C c.1079A>C (p.Tyr360Ser) c.3491A>C (p.Tyr1164Ser) c.3488A>C (p.Tyr1163Ser) c.3476A>C (p.Tyr1159Ser) c.3464A>C (p.Tyr1155Ser) c.3431A>C (p.Tyr1144Ser) c.3374A>C (p.Tyr1125Ser) c.3473A>C (p.Tyr1158Ser) c.3449A>C (p.Tyr1150Ser) c.3284A>C (p.Tyr1095Ser) | |
1 | g.16986104A>C | CA338230764 | ATP13A2 | c.*117T>G (n.*117T>G) c.3358T>G (p.Tyr1120Asp) n.1706T>G c.1078T>G (p.Tyr360Asp) c.3490T>G (p.Tyr1164Asp) c.3487T>G (p.Tyr1163Asp) c.3475T>G (p.Tyr1159Asp) c.3463T>G (p.Tyr1155Asp) c.3430T>G (p.Tyr1144Asp) c.3373T>G (p.Tyr1125Asp) c.3472T>G (p.Tyr1158Asp) c.3448T>G (p.Tyr1150Asp) c.3283T>G (p.Tyr1095Asp) | |
1 | g.16986104A>G | CA338230767 | ATP13A2 | c.*117T>C (n.*117T>C) c.3358T>C (p.Tyr1120His) n.1706T>C c.1078T>C (p.Tyr360His) c.3490T>C (p.Tyr1164His) c.3487T>C (p.Tyr1163His) c.3475T>C (p.Tyr1159His) c.3463T>C (p.Tyr1155His) c.3430T>C (p.Tyr1144His) c.3373T>C (p.Tyr1125His) c.3472T>C (p.Tyr1158His) c.3448T>C (p.Tyr1150His) c.3283T>C (p.Tyr1095His) | gnomAD v4 |
1 | g.16986104A>T | CA338230762 | ATP13A2 | c.*117T>A (n.*117T>A) c.3358T>A (p.Tyr1120Asn) n.1706T>A c.1078T>A (p.Tyr360Asn) c.3490T>A (p.Tyr1164Asn) c.3487T>A (p.Tyr1163Asn) c.3475T>A (p.Tyr1159Asn) c.3463T>A (p.Tyr1155Asn) c.3430T>A (p.Tyr1144Asn) c.3373T>A (p.Tyr1125Asn) c.3472T>A (p.Tyr1158Asn) c.3448T>A (p.Tyr1150Asn) c.3283T>A (p.Tyr1095Asn) | |
1 | g.16986105G>A | CA521027706 | ATP13A2 | c.*116C>T (n.*116C>T) c.3357C>T (p.Val1119=) n.1705C>T c.1077C>T (p.Val359=) c.3489C>T (p.Val1163=) c.3486C>T (p.Val1162=) c.3474C>T (p.Val1158=) c.3462C>T (p.Val1154=) c.3429C>T (p.Val1143=) c.3372C>T (p.Val1124=) c.3471C>T (p.Val1157=) c.3447C>T (p.Val1149=) c.3282C>T (p.Val1094=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.16986105G= | CA1156048867 | ATP13A2 | c.*116C= (n.*116C=) c.3357C= (p.Val1119=) n.1705C= c.1077C= (p.Val359=) c.3489C= (p.Val1163=) c.3486C= (p.Val1162=) c.3474C= (p.Val1158=) c.3462C= (p.Val1154=) c.3429C= (p.Val1143=) c.3372C= (p.Val1124=) c.3471C= (p.Val1157=) c.3447C= (p.Val1149=) c.3282C= (p.Val1094=) | |
1 | g.16986106A>C | CA338230770 | ATP13A2 | c.*115T>G (n.*115T>G) c.3356T>G (p.Val1119Gly) n.1704T>G c.1076T>G (p.Val359Gly) c.3488T>G (p.Val1163Gly) c.3485T>G (p.Val1162Gly) c.3473T>G (p.Val1158Gly) c.3461T>G (p.Val1154Gly) c.3428T>G (p.Val1143Gly) c.3371T>G (p.Val1124Gly) c.3470T>G (p.Val1157Gly) c.3446T>G (p.Val1149Gly) c.3281T>G (p.Val1094Gly) | |
1 | g.16986106A>G | CA338230772 | ATP13A2 | c.*115T>C (n.*115T>C) c.3356T>C (p.Val1119Ala) n.1704T>C c.1076T>C (p.Val359Ala) c.3488T>C (p.Val1163Ala) c.3485T>C (p.Val1162Ala) c.3473T>C (p.Val1158Ala) c.3461T>C (p.Val1154Ala) c.3428T>C (p.Val1143Ala) c.3371T>C (p.Val1124Ala) c.3470T>C (p.Val1157Ala) c.3446T>C (p.Val1149Ala) c.3281T>C (p.Val1094Ala) | |
1 | g.16986106A>T | CA338230774 | ATP13A2 | c.*115T>A (n.*115T>A) c.3356T>A (p.Val1119Asp) n.1704T>A c.1076T>A (p.Val359Asp) c.3488T>A (p.Val1163Asp) c.3485T>A (p.Val1162Asp) c.3473T>A (p.Val1158Asp) c.3461T>A (p.Val1154Asp) c.3428T>A (p.Val1143Asp) c.3371T>A (p.Val1124Asp) c.3470T>A (p.Val1157Asp) c.3446T>A (p.Val1149Asp) c.3281T>A (p.Val1094Asp) | gnomAD v4 |
1 | g.16986107C>A | CA338230776 | ATP13A2 | c.*114G>T (n.*114G>T) c.3355G>T (p.Val1119Phe) n.1703G>T c.1075G>T (p.Val359Phe) c.3487G>T (p.Val1163Phe) c.3484G>T (p.Val1162Phe) c.3472G>T (p.Val1158Phe) c.3460G>T (p.Val1154Phe) c.3427G>T (p.Val1143Phe) c.3370G>T (p.Val1124Phe) c.3469G>T (p.Val1157Phe) c.3445G>T (p.Val1149Phe) c.3280G>T (p.Val1094Phe) | |
1 | g.16986107C>G | CA338230778 | ATP13A2 | c.*114G>C (n.*114G>C) c.3355G>C (p.Val1119Leu) n.1703G>C c.1075G>C (p.Val359Leu) c.3487G>C (p.Val1163Leu) c.3484G>C (p.Val1162Leu) c.3472G>C (p.Val1158Leu) c.3460G>C (p.Val1154Leu) c.3427G>C (p.Val1143Leu) c.3370G>C (p.Val1124Leu) c.3469G>C (p.Val1157Leu) c.3445G>C (p.Val1149Leu) c.3280G>C (p.Val1094Leu) | |
1 | g.16986107C>T | CA338230781 | ATP13A2 | c.*114G>A (n.*114G>A) c.3355G>A (p.Val1119Ile) n.1703G>A c.1075G>A (p.Val359Ile) c.3487G>A (p.Val1163Ile) c.3484G>A (p.Val1162Ile) c.3472G>A (p.Val1158Ile) c.3460G>A (p.Val1154Ile) c.3427G>A (p.Val1143Ile) c.3370G>A (p.Val1124Ile) c.3469G>A (p.Val1157Ile) c.3445G>A (p.Val1149Ile) c.3280G>A (p.Val1094Ile) | gnomAD v3 gnomAD v4 |
1 | g.16986108A= | CA1156048868 | ATP13A2 | c.*113T= (n.*113T=) c.3354T= (p.Thr1118=) n.1702T= c.1074T= (p.Thr358=) c.3486T= (p.Thr1162=) c.3483T= (p.Thr1161=) c.3471T= (p.Thr1157=) c.3459T= (p.Thr1153=) c.3426T= (p.Thr1142=) c.3369T= (p.Thr1123=) c.3468T= (p.Thr1156=) c.3444T= (p.Thr1148=) c.3279T= (p.Thr1093=) | |
1 | g.16986108A>G | CA636429 | ATP13A2 | c.*113T>C (n.*113T>C) c.3354T>C (p.Thr1118=) n.1702T>C c.1074T>C (p.Thr358=) c.3486T>C (p.Thr1162=) c.3483T>C (p.Thr1161=) c.3471T>C (p.Thr1157=) c.3459T>C (p.Thr1153=) c.3426T>C (p.Thr1142=) c.3369T>C (p.Thr1123=) c.3468T>C (p.Thr1156=) c.3444T>C (p.Thr1148=) c.3279T>C (p.Thr1093=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986109G>A | CA338230785 | ATP13A2 | c.*112C>T (n.*112C>T) c.3353C>T (p.Thr1118Ile) n.1701C>T c.1073C>T (p.Thr358Ile) c.3485C>T (p.Thr1162Ile) c.3482C>T (p.Thr1161Ile) c.3470C>T (p.Thr1157Ile) c.3458C>T (p.Thr1153Ile) c.3425C>T (p.Thr1142Ile) c.3368C>T (p.Thr1123Ile) c.3467C>T (p.Thr1156Ile) c.3443C>T (p.Thr1148Ile) c.3278C>T (p.Thr1093Ile) | |
1 | g.16986109G>C | CA338230787 | ATP13A2 | c.*112C>G (n.*112C>G) c.3353C>G (p.Thr1118Ser) n.1701C>G c.1073C>G (p.Thr358Ser) c.3485C>G (p.Thr1162Ser) c.3482C>G (p.Thr1161Ser) c.3470C>G (p.Thr1157Ser) c.3458C>G (p.Thr1153Ser) c.3425C>G (p.Thr1142Ser) c.3368C>G (p.Thr1123Ser) c.3467C>G (p.Thr1156Ser) c.3443C>G (p.Thr1148Ser) c.3278C>G (p.Thr1093Ser) | |
1 | g.16986109G>T | CA338230793 | ATP13A2 | c.*112C>A (n.*112C>A) c.3353C>A (p.Thr1118Asn) n.1701C>A c.1073C>A (p.Thr358Asn) c.3485C>A (p.Thr1162Asn) c.3482C>A (p.Thr1161Asn) c.3470C>A (p.Thr1157Asn) c.3458C>A (p.Thr1153Asn) c.3425C>A (p.Thr1142Asn) c.3368C>A (p.Thr1123Asn) c.3467C>A (p.Thr1156Asn) c.3443C>A (p.Thr1148Asn) c.3278C>A (p.Thr1093Asn) | |
1 | g.16986110T>A | CA338230795 | ATP13A2 | c.*111A>T (n.*111A>T) c.3352A>T (p.Thr1118Ser) n.1700A>T c.1072A>T (p.Thr358Ser) c.3484A>T (p.Thr1162Ser) c.3481A>T (p.Thr1161Ser) c.3469A>T (p.Thr1157Ser) c.3457A>T (p.Thr1153Ser) c.3424A>T (p.Thr1142Ser) c.3367A>T (p.Thr1123Ser) c.3466A>T (p.Thr1156Ser) c.3442A>T (p.Thr1148Ser) c.3277A>T (p.Thr1093Ser) | |
1 | g.16986110T>C | CA338230802 | ATP13A2 | c.*111A>G (n.*111A>G) c.3352A>G (p.Thr1118Ala) n.1700A>G c.1072A>G (p.Thr358Ala) c.3484A>G (p.Thr1162Ala) c.3481A>G (p.Thr1161Ala) c.3469A>G (p.Thr1157Ala) c.3457A>G (p.Thr1153Ala) c.3424A>G (p.Thr1142Ala) c.3367A>G (p.Thr1123Ala) c.3466A>G (p.Thr1156Ala) c.3442A>G (p.Thr1148Ala) c.3277A>G (p.Thr1093Ala) | |
1 | g.16986110T>G | CA338230803 | ATP13A2 | c.*111A>C (n.*111A>C) c.3352A>C (p.Thr1118Pro) n.1700A>C c.1072A>C (p.Thr358Pro) c.3484A>C (p.Thr1162Pro) c.3481A>C (p.Thr1161Pro) c.3469A>C (p.Thr1157Pro) c.3457A>C (p.Thr1153Pro) c.3424A>C (p.Thr1142Pro) c.3367A>C (p.Thr1123Pro) c.3466A>C (p.Thr1156Pro) c.3442A>C (p.Thr1148Pro) c.3277A>C (p.Thr1093Pro) | |
1 | g.16986111C= | CA1156048871 | ATP13A2 | c.*110G= (n.*110G=) c.3351G= (p.Ala1117=) n.1699G= c.1071G= (p.Ala357=) c.3483G= (p.Ala1161=) c.3480G= (p.Ala1160=) c.3468G= (p.Ala1156=) c.3456G= (p.Ala1152=) c.3423G= (p.Ala1141=) c.3366G= (p.Ala1122=) c.3465G= (p.Ala1155=) c.3441G= (p.Ala1147=) c.3276G= (p.Ala1092=) | |
1 | g.16986111C>T | CA521027708 | ATP13A2 | c.*110G>A (n.*110G>A) c.3351G>A (p.Ala1117=) n.1699G>A c.1071G>A (p.Ala357=) c.3483G>A (p.Ala1161=) c.3480G>A (p.Ala1160=) c.3468G>A (p.Ala1156=) c.3456G>A (p.Ala1152=) c.3423G>A (p.Ala1141=) c.3366G>A (p.Ala1122=) c.3465G>A (p.Ala1155=) c.3441G>A (p.Ala1147=) c.3276G>A (p.Ala1092=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986112G>A | CA636430 | ATP13A2 | c.*109C>T (n.*109C>T) c.3350C>T (p.Ala1117Val) n.1698C>T c.1070C>T (p.Ala357Val) c.3482C>T (p.Ala1161Val) c.3479C>T (p.Ala1160Val) c.3467C>T (p.Ala1156Val) c.3455C>T (p.Ala1152Val) c.3422C>T (p.Ala1141Val) c.3365C>T (p.Ala1122Val) c.3464C>T (p.Ala1155Val) c.3440C>T (p.Ala1147Val) c.3275C>T (p.Ala1092Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986112G>C | CA338230805 | ATP13A2 | c.*109C>G (n.*109C>G) c.3350C>G (p.Ala1117Gly) n.1698C>G c.1070C>G (p.Ala357Gly) c.3482C>G (p.Ala1161Gly) c.3479C>G (p.Ala1160Gly) c.3467C>G (p.Ala1156Gly) c.3455C>G (p.Ala1152Gly) c.3422C>G (p.Ala1141Gly) c.3365C>G (p.Ala1122Gly) c.3464C>G (p.Ala1155Gly) c.3440C>G (p.Ala1147Gly) c.3275C>G (p.Ala1092Gly) | gnomAD v4 |
1 | g.16986112G= | CA1148430764 | ATP13A2 | c.*109C= (n.*109C=) c.3350C= (p.Ala1117=) n.1698C= c.1070C= (p.Ala357=) c.3482C= (p.Ala1161=) c.3479C= (p.Ala1160=) c.3467C= (p.Ala1156=) c.3455C= (p.Ala1152=) c.3422C= (p.Ala1141=) c.3365C= (p.Ala1122=) c.3464C= (p.Ala1155=) c.3440C= (p.Ala1147=) c.3275C= (p.Ala1092=) | |
1 | g.16986112G>T | CA338230804 | ATP13A2 | c.*109C>A (n.*109C>A) c.3350C>A (p.Ala1117Glu) n.1698C>A c.1070C>A (p.Ala357Glu) c.3482C>A (p.Ala1161Glu) c.3479C>A (p.Ala1160Glu) c.3467C>A (p.Ala1156Glu) c.3455C>A (p.Ala1152Glu) c.3422C>A (p.Ala1141Glu) c.3365C>A (p.Ala1122Glu) c.3464C>A (p.Ala1155Glu) c.3440C>A (p.Ala1147Glu) c.3275C>A (p.Ala1092Glu) | gnomAD v4 |
1 | g.16986113C>A | CA338231181 | ATP13A2 | c.*108G>T (n.*108G>T) c.3349G>T (p.Ala1117Ser) n.1697G>T c.1069G>T (p.Ala357Ser) c.3481G>T (p.Ala1161Ser) c.3478G>T (p.Ala1160Ser) c.3466G>T (p.Ala1156Ser) c.3454G>T (p.Ala1152Ser) c.3421G>T (p.Ala1141Ser) c.3364G>T (p.Ala1122Ser) c.3463G>T (p.Ala1155Ser) c.3439G>T (p.Ala1147Ser) c.3274G>T (p.Ala1092Ser) | |
1 | g.16986113C>G | CA338231182 | ATP13A2 | c.*108G>C (n.*108G>C) c.3349G>C (p.Ala1117Pro) n.1697G>C c.1069G>C (p.Ala357Pro) c.3481G>C (p.Ala1161Pro) c.3478G>C (p.Ala1160Pro) c.3466G>C (p.Ala1156Pro) c.3454G>C (p.Ala1152Pro) c.3421G>C (p.Ala1141Pro) c.3364G>C (p.Ala1122Pro) c.3463G>C (p.Ala1155Pro) c.3439G>C (p.Ala1147Pro) c.3274G>C (p.Ala1092Pro) | |
1 | g.16986113C>T | CA338231185 | ATP13A2 | c.*108G>A (n.*108G>A) c.3349G>A (p.Ala1117Thr) n.1697G>A c.1069G>A (p.Ala357Thr) c.3481G>A (p.Ala1161Thr) c.3478G>A (p.Ala1160Thr) c.3466G>A (p.Ala1156Thr) c.3454G>A (p.Ala1152Thr) c.3421G>A (p.Ala1141Thr) c.3364G>A (p.Ala1122Thr) c.3463G>A (p.Ala1155Thr) c.3439G>A (p.Ala1147Thr) c.3274G>A (p.Ala1092Thr) | |
1 | g.16986114C>A | CA338231187 | ATP13A2 | c.*107G>T (n.*107G>T) c.3348G>T (p.Leu1116Phe) n.1696G>T c.1068G>T (p.Leu356Phe) c.3480G>T (p.Leu1160Phe) c.3477G>T (p.Leu1159Phe) c.3465G>T (p.Leu1155Phe) c.3453G>T (p.Leu1151Phe) c.3420G>T (p.Leu1140Phe) c.3363G>T (p.Leu1121Phe) c.3462G>T (p.Leu1154Phe) c.3438G>T (p.Leu1146Phe) c.3273G>T (p.Leu1091Phe) | |
1 | g.16986114C>G | CA338231188 | ATP13A2 | c.*107G>C (n.*107G>C) c.3348G>C (p.Leu1116Phe) n.1696G>C c.1068G>C (p.Leu356Phe) c.3480G>C (p.Leu1160Phe) c.3477G>C (p.Leu1159Phe) c.3465G>C (p.Leu1155Phe) c.3453G>C (p.Leu1151Phe) c.3420G>C (p.Leu1140Phe) c.3363G>C (p.Leu1121Phe) c.3462G>C (p.Leu1154Phe) c.3438G>C (p.Leu1146Phe) c.3273G>C (p.Leu1091Phe) | |
1 | g.16986115A>C | CA338231205 | ATP13A2 | c.*106T>G (n.*106T>G) c.3347T>G (p.Leu1116Trp) n.1695T>G c.1067T>G (p.Leu356Trp) c.3479T>G (p.Leu1160Trp) c.3476T>G (p.Leu1159Trp) c.3464T>G (p.Leu1155Trp) c.3452T>G (p.Leu1151Trp) c.3419T>G (p.Leu1140Trp) c.3362T>G (p.Leu1121Trp) c.3461T>G (p.Leu1154Trp) c.3437T>G (p.Leu1146Trp) c.3272T>G (p.Leu1091Trp) | |
1 | g.16986115A>G | CA338231206 | ATP13A2 | c.*106T>C (n.*106T>C) c.3347T>C (p.Leu1116Ser) n.1695T>C c.1067T>C (p.Leu356Ser) c.3479T>C (p.Leu1160Ser) c.3476T>C (p.Leu1159Ser) c.3464T>C (p.Leu1155Ser) c.3452T>C (p.Leu1151Ser) c.3419T>C (p.Leu1140Ser) c.3362T>C (p.Leu1121Ser) c.3461T>C (p.Leu1154Ser) c.3437T>C (p.Leu1146Ser) c.3272T>C (p.Leu1091Ser) | |
1 | g.16986115A>T | CA338231207 | ATP13A2 | c.*106T>A (n.*106T>A) c.3347T>A (p.Leu1116Ter) n.1695T>A c.1067T>A (p.Leu356Ter) c.3479T>A (p.Leu1160Ter) c.3476T>A (p.Leu1159Ter) c.3464T>A (p.Leu1155Ter) c.3452T>A (p.Leu1151Ter) c.3419T>A (p.Leu1140Ter) c.3362T>A (p.Leu1121Ter) c.3461T>A (p.Leu1154Ter) c.3437T>A (p.Leu1146Ter) c.3272T>A (p.Leu1091Ter) | |
1 | g.16986116A>C | CA338231208 | ATP13A2 | c.*105T>G (n.*105T>G) c.3346T>G (p.Leu1116Val) n.1694T>G c.1066T>G (p.Leu356Val) c.3478T>G (p.Leu1160Val) c.3475T>G (p.Leu1159Val) c.3463T>G (p.Leu1155Val) c.3451T>G (p.Leu1151Val) c.3418T>G (p.Leu1140Val) c.3361T>G (p.Leu1121Val) c.3460T>G (p.Leu1154Val) c.3436T>G (p.Leu1146Val) c.3271T>G (p.Leu1091Val) | |
1 | g.16986116A>G | CA2742638023 | ATP13A2 | c.*105T>C (n.*105T>C) c.3346T>C (p.Leu1116=) n.1694T>C c.1066T>C (p.Leu356=) c.3478T>C (p.Leu1160=) c.3475T>C (p.Leu1159=) c.3463T>C (p.Leu1155=) c.3451T>C (p.Leu1151=) c.3418T>C (p.Leu1140=) c.3361T>C (p.Leu1121=) c.3460T>C (p.Leu1154=) c.3436T>C (p.Leu1146=) c.3271T>C (p.Leu1091=) | |
1 | g.16986116A>T | CA338231209 | ATP13A2 | c.*105T>A (n.*105T>A) c.3346T>A (p.Leu1116Met) n.1694T>A c.1066T>A (p.Leu356Met) c.3478T>A (p.Leu1160Met) c.3475T>A (p.Leu1159Met) c.3463T>A (p.Leu1155Met) c.3451T>A (p.Leu1151Met) c.3418T>A (p.Leu1140Met) c.3361T>A (p.Leu1121Met) c.3460T>A (p.Leu1154Met) c.3436T>A (p.Leu1146Met) c.3271T>A (p.Leu1091Met) | |
1 | g.16986117C>A | CA18624429 | ATP13A2 | c.*104G>T (n.*104G>T) c.3345G>T (p.Arg1115Ser) n.1693G>T c.1065G>T (p.Arg355Ser) c.3477G>T (p.Arg1159Ser) c.3474G>T (p.Arg1158Ser) c.3462G>T (p.Arg1154Ser) c.3450G>T (p.Arg1150Ser) c.3417G>T (p.Arg1139Ser) c.3360G>T (p.Arg1120Ser) c.3459G>T (p.Arg1153Ser) c.3435G>T (p.Arg1145Ser) c.3270G>T (p.Arg1090Ser) | dbSNP gnomAD v4 |
1 | g.16986117C= | CA1156048881 | ATP13A2 | c.*104G= (n.*104G=) c.3345G= (p.Arg1115=) n.1693G= c.1065G= (p.Arg355=) c.3477G= (p.Arg1159=) c.3474G= (p.Arg1158=) c.3462G= (p.Arg1154=) c.3450G= (p.Arg1150=) c.3417G= (p.Arg1139=) c.3360G= (p.Arg1120=) c.3459G= (p.Arg1153=) c.3435G= (p.Arg1145=) c.3270G= (p.Arg1090=) | |
1 | g.16986117C>G | CA338231220 | ATP13A2 | c.*104G>C (n.*104G>C) c.3345G>C (p.Arg1115Ser) n.1693G>C c.1065G>C (p.Arg355Ser) c.3477G>C (p.Arg1159Ser) c.3474G>C (p.Arg1158Ser) c.3462G>C (p.Arg1154Ser) c.3450G>C (p.Arg1150Ser) c.3417G>C (p.Arg1139Ser) c.3360G>C (p.Arg1120Ser) c.3459G>C (p.Arg1153Ser) c.3435G>C (p.Arg1145Ser) c.3270G>C (p.Arg1090Ser) | |
1 | g.16986117C>T | CA521449589 | ATP13A2 | c.*104G>A (n.*104G>A) c.3345G>A (p.Arg1115=) n.1693G>A c.1065G>A (p.Arg355=) c.3477G>A (p.Arg1159=) c.3474G>A (p.Arg1158=) c.3462G>A (p.Arg1154=) c.3450G>A (p.Arg1150=) c.3417G>A (p.Arg1139=) c.3360G>A (p.Arg1120=) c.3459G>A (p.Arg1153=) c.3435G>A (p.Arg1145=) c.3270G>A (p.Arg1090=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.16986118C>A | CA338231224 | ATP13A2 | c.*103G>T (n.*103G>T) c.3344G>T (p.Arg1115Met) n.1692G>T c.1064G>T (p.Arg355Met) c.3476G>T (p.Arg1159Met) c.3473G>T (p.Arg1158Met) c.3461G>T (p.Arg1154Met) c.3449G>T (p.Arg1150Met) c.3416G>T (p.Arg1139Met) c.3359G>T (p.Arg1120Met) c.3458G>T (p.Arg1153Met) c.3434G>T (p.Arg1145Met) c.3269G>T (p.Arg1090Met) | |
1 | g.16986118C= | CA1156048886 | ATP13A2 | c.*103G= (n.*103G=) c.3344G= (p.Arg1115=) n.1692G= c.1064G= (p.Arg355=) c.3476G= (p.Arg1159=) c.3473G= (p.Arg1158=) c.3461G= (p.Arg1154=) c.3449G= (p.Arg1150=) c.3416G= (p.Arg1139=) c.3359G= (p.Arg1120=) c.3458G= (p.Arg1153=) c.3434G= (p.Arg1145=) c.3269G= (p.Arg1090=) | |
1 | g.16986118C>G | CA338231223 | ATP13A2 | c.*103G>C (n.*103G>C) c.3344G>C (p.Arg1115Thr) n.1692G>C c.1064G>C (p.Arg355Thr) c.3476G>C (p.Arg1159Thr) c.3473G>C (p.Arg1158Thr) c.3461G>C (p.Arg1154Thr) c.3449G>C (p.Arg1150Thr) c.3416G>C (p.Arg1139Thr) c.3359G>C (p.Arg1120Thr) c.3458G>C (p.Arg1153Thr) c.3434G>C (p.Arg1145Thr) c.3269G>C (p.Arg1090Thr) | |
1 | g.16986118C>T | CA636431 | ATP13A2 | c.*103G>A (n.*103G>A) c.3344G>A (p.Arg1115Lys) n.1692G>A c.1064G>A (p.Arg355Lys) c.3476G>A (p.Arg1159Lys) c.3473G>A (p.Arg1158Lys) c.3461G>A (p.Arg1154Lys) c.3449G>A (p.Arg1150Lys) c.3416G>A (p.Arg1139Lys) c.3359G>A (p.Arg1120Lys) c.3458G>A (p.Arg1153Lys) c.3434G>A (p.Arg1145Lys) c.3269G>A (p.Arg1090Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.16986119T>A | CA338231225 | ATP13A2 | c.*102A>T (n.*102A>T) c.3343A>T (p.Arg1115Trp) n.1691A>T c.1063A>T (p.Arg355Trp) c.3475A>T (p.Arg1159Trp) c.3472A>T (p.Arg1158Trp) c.3460A>T (p.Arg1154Trp) c.3448A>T (p.Arg1150Trp) c.3415A>T (p.Arg1139Trp) c.3358A>T (p.Arg1120Trp) c.3457A>T (p.Arg1153Trp) c.3433A>T (p.Arg1145Trp) c.3268A>T (p.Arg1090Trp) | |
1 | g.16986119T>C | CA338231226 | ATP13A2 | c.*102A>G (n.*102A>G) c.3343A>G (p.Arg1115Gly) n.1691A>G c.1063A>G (p.Arg355Gly) c.3475A>G (p.Arg1159Gly) c.3472A>G (p.Arg1158Gly) c.3460A>G (p.Arg1154Gly) c.3448A>G (p.Arg1150Gly) c.3415A>G (p.Arg1139Gly) c.3358A>G (p.Arg1120Gly) c.3457A>G (p.Arg1153Gly) c.3433A>G (p.Arg1145Gly) c.3268A>G (p.Arg1090Gly) | |
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 |