ClinVar Miner

List of variants reported as likely benign for disorder of copper metabolism

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1935
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_000053.4(ATP7B):c.*1009G>A rs79747858 0.01012
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_000053.4(ATP7B):c.-54G>T rs115564351 0.00634
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_000053.4(ATP7B):c.*15C>T rs73498144 0.00493
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_001283.5(AP1S1):c.117C>G (p.Val39=) rs148305541 0.00287
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000053.4(ATP7B):c.4125-23G>A rs201152941 0.00277
NM_000053.4(ATP7B):c.1707+29dup rs113829533 0.00273
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_000053.4(ATP7B):c.3060+16G>T rs76163470 0.00196
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000053.4(ATP7B):c.*23G>T rs201108784 0.00108
NM_000053.4(ATP7B):c.51+31G>A rs116654819 0.00105
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204 0.00086
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu) rs183044693 0.00080
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934 0.00078
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=) rs377267217 0.00076
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) rs199807461 0.00066
NM_000053.4(ATP7B):c.1543+13C>T rs200171850 0.00062
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00059
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn) rs199875471 0.00041
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000053.4(ATP7B):c.3465G>T (p.Arg1155Ser) rs201985951 0.00036
NM_000053.4(ATP7B):c.2448-11G>A rs200450017 0.00034
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815 0.00029
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841 0.00027
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186 0.00025
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg) rs145173864 0.00025
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942 0.00024
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179 0.00022
NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val) rs553861183 0.00021
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012 0.00020
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742 0.00019
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239 0.00019
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770 0.00018
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=) rs762782389 0.00017
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp) rs377714939 0.00016
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860 0.00016
NM_000053.4(ATP7B):c.3354C>G (p.Arg1118=) rs1462687233 0.00016
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656 0.00016
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu) rs149576827 0.00015
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063 0.00014
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) rs200642204 0.00014
NM_000053.4(ATP7B):c.2475G>A (p.Val825=) rs373528664 0.00014
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) rs369620062 0.00014
NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met) rs376112375 0.00014
NM_000053.4(ATP7B):c.3303A>C (p.Gly1101=) rs1475867908 0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529 0.00014
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704 0.00013
NM_000053.4(ATP7B):c.1544-12T>C rs201167060 0.00013
NM_000053.4(ATP7B):c.3261C>A (p.Thr1087=) rs375820067 0.00013
NM_000053.4(ATP7B):c.813C>T (p.Cys271=) rs572147914 0.00013
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771 0.00012
NM_000052.7(ATP7A):c.3659-12C>T rs1012193744 0.00011
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=) rs370476756 0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=) rs193922105 0.00010
NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr) rs745866259 0.00010
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500 0.00009
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile) rs146392305 0.00009
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=) rs764441090 0.00009
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=) rs373102009 0.00009
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly) rs199924281 0.00009
NM_000053.4(ATP7B):c.3747G>A (p.Val1249=) rs572110753 0.00009
NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=) rs199859839 0.00009
NM_000053.4(ATP7B):c.610A>G (p.Met204Val) rs200605351 0.00009
NM_000052.7(ATP7A):c.1947-3A>G rs782237008 0.00008
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352 0.00008
NM_000053.4(ATP7B):c.2805G>A (p.Thr935=) rs141872590 0.00008
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile) rs782290331 0.00007
NM_000053.4(ATP7B):c.1153G>A (p.Glu385Lys) rs772069735 0.00007
NM_000053.4(ATP7B):c.1910A>G (p.Asn637Ser) rs61733683 0.00007
NM_000053.4(ATP7B):c.1947-4C>T rs74904335 0.00007
NM_000053.4(ATP7B):c.2583C>T (p.Ala861=) rs565717791 0.00007
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=) rs748003525 0.00007
NM_000053.4(ATP7B):c.4021+34G>A rs373250873 0.00007
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982 0.00006
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963 0.00006
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433 0.00006
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln) rs782166627 0.00006
NM_000052.7(ATP7A):c.748A>G (p.Ile250Val) rs1189996419 0.00006
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser) rs368147403 0.00006
NM_000053.4(ATP7B):c.1285+8G>A rs377584333 0.00006
NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser) rs186300062 0.00006
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277 0.00006
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515 0.00006
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801 0.00006
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497 0.00006
NM_000053.4(ATP7B):c.4022-19C>T rs369736734 0.00006
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020 0.00006
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp) rs373762572 0.00006
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp) rs755476114 0.00006
NM_000053.4(ATP7B):c.774C>G (p.Thr258=) rs1201589034 0.00006
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) rs372232940 0.00005
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=) rs781950759 0.00005
NM_000052.7(ATP7A):c.1309G>A (p.Asp437Asn) rs781927920 0.00005
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met) rs782076879 0.00005
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437 0.00005
NM_000052.7(ATP7A):c.1772G>A (p.Gly591Glu) rs782566688 0.00005
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=) rs782154912 0.00005
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn) rs1057520234 0.00005
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) rs782475540 0.00005
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys) rs781970260 0.00005
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493 0.00005
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) rs188836609 0.00005
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) rs782619990 0.00005
NM_000053.4(ATP7B):c.1050G>A (p.Pro350=) rs372191499 0.00005
NM_000053.4(ATP7B):c.2196C>T (p.Leu732=) rs201213995 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724 0.00005
NM_000053.4(ATP7B):c.549C>T (p.Ala183=) rs772619981 0.00005
NM_000053.4(ATP7B):c.582C>T (p.Pro194=) rs780671732 0.00005
NM_000052.7(ATP7A):c.1137T>C (p.Thr379=) rs376042813 0.00004
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911 0.00004
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) rs139000596 0.00004
NM_000052.7(ATP7A):c.1377G>A (p.Ser459=) rs377355446 0.00004
NM_000052.7(ATP7A):c.2172+7G>T rs782433802 0.00004
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.2619C>T (p.Leu873=) rs1307515001 0.00004
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=) rs1325311308 0.00004
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705 0.00004
NM_000052.7(ATP7A):c.4005+19C>A rs1231604254 0.00004
NM_000052.7(ATP7A):c.4305C>T (p.Ser1435=) rs146052682 0.00004
NM_000052.7(ATP7A):c.729G>A (p.Lys243=) rs782326318 0.00004
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834 0.00004
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856 0.00004
NM_000053.4(ATP7B):c.1605G>A (p.Glu535=) rs762567255 0.00004
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) rs770787421 0.00004
NM_000053.4(ATP7B):c.2576-5del rs754802731 0.00004
NM_000053.4(ATP7B):c.2731-14T>C rs545768632 0.00004
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=) rs1052485948 0.00004
NM_000053.4(ATP7B):c.3412+18C>A rs769198765 0.00004
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106 0.00004
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654 0.00004
NM_000053.4(ATP7B):c.4206G>C (p.Val1402=) rs957678118 0.00004
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=) rs767721448 0.00004
NM_000052.7(ATP7A):c.1103T>C (p.Leu368Ser) rs372780635 0.00003
NM_000052.7(ATP7A):c.1226G>A (p.Arg409Gln) rs201763950 0.00003
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly) rs1557232788 0.00003
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=) rs1297787618 0.00003
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847 0.00003
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met) rs139902461 0.00003
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638 0.00003
NM_000052.7(ATP7A):c.1870-12G>T rs1203434891 0.00003
NM_000052.7(ATP7A):c.2052T>G (p.Asn684Lys) rs781837620 0.00003
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) rs782577253 0.00003
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) rs782174967 0.00003
NM_000052.7(ATP7A):c.2680A>G (p.Ile894Val) rs782430502 0.00003
NM_000052.7(ATP7A):c.3274A>G (p.Ile1092Val) rs782513950 0.00003
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064 0.00003
NM_000052.7(ATP7A):c.3500C>G (p.Ala1167Gly) rs782231801 0.00003
NM_000052.7(ATP7A):c.3515C>T (p.Ala1172Val) rs781866452 0.00003
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) rs1423719687 0.00003
NM_000052.7(ATP7A):c.4223A>C (p.Lys1408Thr) rs936157944 0.00003
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924 0.00003
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314 0.00003
NM_000052.7(ATP7A):c.984A>G (p.Pro328=) rs2077657952 0.00003
NM_000053.4(ATP7B):c.1524G>A (p.Arg508=) rs769128344 0.00003
NM_000053.4(ATP7B):c.1543+14G>A rs770362811 0.00003
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=) rs551051945 0.00003
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=) rs138962570 0.00003
NM_000053.4(ATP7B):c.2127C>T (p.Leu709=) rs780843377 0.00003
NM_000053.4(ATP7B):c.2298G>A (p.Thr766=) rs759444110 0.00003
NM_000053.4(ATP7B):c.2447+8A>G rs747586752 0.00003
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000053.4(ATP7B):c.2826C>T (p.Ile942=) rs758712064 0.00003
NM_000053.4(ATP7B):c.2979G>C (p.Thr993=) rs200656411 0.00003
NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=) rs370527611 0.00003
NM_000053.4(ATP7B):c.327G>A (p.Leu109=) rs760990530 0.00003
NM_000053.4(ATP7B):c.3417A>C (p.Ala1139=) rs769949202 0.00003
NM_000053.4(ATP7B):c.3557-7G>A rs368128448 0.00003
NM_000053.4(ATP7B):c.3576C>T (p.Ile1192=) rs774584291 0.00003
NM_000053.4(ATP7B):c.3645C>T (p.Asp1215=) rs763228636 0.00003
NM_000053.4(ATP7B):c.3783A>G (p.Lys1261=) rs774940838 0.00003
NM_000053.4(ATP7B):c.3888C>T (p.Asp1296=) rs772616533 0.00003
NM_000053.4(ATP7B):c.3894C>T (p.Val1298=) rs755044286 0.00003
NM_000053.4(ATP7B):c.3956G>A (p.Arg1319Gln) rs529307157 0.00003
NM_000053.4(ATP7B):c.993C>T (p.Ala331=) rs377294197 0.00003
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu) rs1557231845 0.00002
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu) rs782651571 0.00002
NM_000052.7(ATP7A):c.1429C>T (p.Pro477Ser) rs879981699 0.00002
NM_000052.7(ATP7A):c.1455G>T (p.Lys485Asn) rs782083382 0.00002
NM_000052.7(ATP7A):c.1543+9C>G rs367977602 0.00002
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile) rs781952393 0.00002
NM_000052.7(ATP7A):c.1749G>A (p.Glu583=) rs375479026 0.00002
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val) rs782444523 0.00002
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472 0.00002
NM_000052.7(ATP7A):c.1816A>G (p.Ile606Val) rs781961626 0.00002
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=) rs781957241 0.00002
NM_000052.7(ATP7A):c.2029C>G (p.His677Asp) rs782761381 0.00002
NM_000052.7(ATP7A):c.2079C>G (p.Ile693Met) rs782269377 0.00002
NM_000052.7(ATP7A):c.2107C>T (p.Arg703Cys) rs782555092 0.00002
NM_000052.7(ATP7A):c.2173-7A>T rs376179410 0.00002
NM_000052.7(ATP7A):c.2178C>T (p.Phe726=) rs572956005 0.00002
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014 0.00002
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=) rs1473914623 0.00002
NM_000052.7(ATP7A):c.2385A>G (p.Arg795=) rs1445955792 0.00002
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=) rs782315761 0.00002
NM_000052.7(ATP7A):c.2597A>G (p.His866Arg) rs1264242478 0.00002
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043 0.00002
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866 0.00002
NM_000052.7(ATP7A):c.2916+10T>G rs2077902893 0.00002
NM_000052.7(ATP7A):c.2917-9C>T rs188421674 0.00002
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358 0.00002
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620 0.00002
NM_000052.7(ATP7A):c.3262C>G (p.Leu1088Val) rs782463394 0.00002
NM_000052.7(ATP7A):c.3358A>G (p.Ser1120Gly) rs781914030 0.00002
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=) rs1179465472 0.00002
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys) rs1557238006 0.00002
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) rs782250966 0.00002
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn) rs1374099672 0.00002
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val) rs1385333276 0.00002
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu) rs782428979 0.00002
NM_000052.7(ATP7A):c.4006-7T>C rs1406270253 0.00002
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg) rs781912153 0.00002
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr) rs781912401 0.00002
NM_000052.7(ATP7A):c.4124-17C>T rs371435031 0.00002
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811 0.00002
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp) rs782232632 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138 0.00002
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr) rs781838499 0.00002
NM_000052.7(ATP7A):c.588G>A (p.Leu196=) rs782253237 0.00002
NM_000052.7(ATP7A):c.611-7T>C rs781898993 0.00002
NM_000052.7(ATP7A):c.6T>C (p.Asp2=) rs951178780 0.00002
NM_000052.7(ATP7A):c.817T>C (p.Tyr273His) rs1557231780 0.00002
NM_000052.7(ATP7A):c.840T>G (p.Thr280=) rs782713333 0.00002
NM_000052.7(ATP7A):c.909A>G (p.Gln303=) rs372389715 0.00002
NM_000053.4(ATP7B):c.1098C>T (p.Ala366=) rs1430922191 0.00002
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466 0.00002
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=) rs772843652 0.00002
NM_000053.4(ATP7B):c.1449A>G (p.Arg483=) rs540586756 0.00002
NM_000053.4(ATP7B):c.1677C>T (p.Tyr559=) rs142187604 0.00002
NM_000053.4(ATP7B):c.1815T>G (p.Leu605=) rs774401223 0.00002
NM_000053.4(ATP7B):c.1869+16A>G rs767199740 0.00002
NM_000053.4(ATP7B):c.1869+20A>G rs566255910 0.00002
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=) rs756958229 0.00002
NM_000053.4(ATP7B):c.2082T>C (p.Ile694=) rs543607689 0.00002
NM_000053.4(ATP7B):c.2199C>T (p.Ile733=) rs575138257 0.00002
NM_000053.4(ATP7B):c.2328G>A (p.Leu776=) rs756580388 0.00002
NM_000053.4(ATP7B):c.2374C>T (p.Leu792=) rs757244072 0.00002
NM_000053.4(ATP7B):c.2448-16G>A rs778466134 0.00002
NM_000053.4(ATP7B):c.2979G>A (p.Thr993=) rs200656411 0.00002
NM_000053.4(ATP7B):c.3130C>T (p.Leu1044=) rs1322680211 0.00002
NM_000053.4(ATP7B):c.3342C>T (p.Ala1114=) rs748614005 0.00002
NM_000053.4(ATP7B):c.3462G>A (p.Leu1154=) rs767069278 0.00002
NM_000053.4(ATP7B):c.3471C>T (p.Asn1157=) rs764481833 0.00002
NM_000053.4(ATP7B):c.3501C>T (p.Asp1167=) rs763963568 0.00002
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334 0.00002
NM_000053.4(ATP7B):c.3852T>C (p.Ile1284=) rs757139219 0.00002
NM_000053.4(ATP7B):c.396C>T (p.Ser132=) rs377081763 0.00002
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) rs564541246 0.00002
NM_000053.4(ATP7B):c.543A>G (p.Gln181=) rs759386572 0.00002
NM_000053.4(ATP7B):c.597C>T (p.Asp199=) rs1158398635 0.00002
NM_000053.4(ATP7B):c.78C>A (p.Thr26=) rs1227368750 0.00002
NM_000052.7(ATP7A):c.1023G>C (p.Gly341=) rs374656309 0.00001
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr) rs368982547 0.00001
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser) rs1557231866 0.00001
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val) rs1349223430 0.00001
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=) rs147225045 0.00001
NM_000052.7(ATP7A):c.121-12T>C rs1557231556 0.00001
NM_000052.7(ATP7A):c.1222A>G (p.Ile408Val) rs782815622 0.00001
NM_000052.7(ATP7A):c.1247A>C (p.Asn416Thr) rs1557231909 0.00001
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser) rs782505393 0.00001
NM_000052.7(ATP7A):c.1255G>T (p.Val419Phe) rs782635238 0.00001
NM_000052.7(ATP7A):c.1259A>G (p.Glu420Gly) rs782530774 0.00001
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly) rs2077660217 0.00001
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met) rs782018636 0.00001
NM_000052.7(ATP7A):c.1290G>A (p.Thr430=) rs143036870 0.00001
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=) rs782148279 0.00001
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala) rs1227094533 0.00001
NM_000052.7(ATP7A):c.1337-5A>G rs371146030 0.00001
NM_000052.7(ATP7A):c.1341G>A (p.Thr447=) rs782292643 0.00001
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005 0.00001
NM_000052.7(ATP7A):c.1399A>G (p.Thr467Ala) rs782416233 0.00001
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly) rs781834607 0.00001
NM_000052.7(ATP7A):c.1497C>T (p.Cys499=) rs782495317 0.00001
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly) rs368355216 0.00001
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly) rs1557233359 0.00001
NM_000052.7(ATP7A):c.1590A>G (p.Val530=) rs1557233367 0.00001
NM_000052.7(ATP7A):c.1602T>C (p.Pro534=) rs1056057247 0.00001
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln) rs782491733 0.00001
NM_000052.7(ATP7A):c.168A>G (p.Leu56=) rs782612734 0.00001
NM_000052.7(ATP7A):c.1707+16T>C rs1557233398 0.00001
NM_000052.7(ATP7A):c.1708-9C>G rs1557234077 0.00001
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) rs371777895 0.00001
NM_000052.7(ATP7A):c.1811C>T (p.Ala604Val) rs375103934 0.00001
NM_000052.7(ATP7A):c.1825G>C (p.Asp609His) rs782764596 0.00001
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu) rs781872960 0.00001
NM_000052.7(ATP7A):c.1834A>G (p.Ile612Val) rs1318638094 0.00001
NM_000052.7(ATP7A):c.1878T>C (p.Gly626=) rs782299586 0.00001
NM_000052.7(ATP7A):c.1902G>A (p.Lys634=) rs782315947 0.00001
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln) rs1557234412 0.00001
NM_000052.7(ATP7A):c.1946+11T>C rs1557234428 0.00001
NM_000052.7(ATP7A):c.1947-5A>G rs1557234466 0.00001
NM_000052.7(ATP7A):c.1947-7A>G rs2077824853 0.00001
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn) rs782629836 0.00001
NM_000052.7(ATP7A):c.2032T>C (p.Phe678Leu) rs781792854 0.00001
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile) rs782455461 0.00001
NM_000052.7(ATP7A):c.204C>T (p.Asp68=) rs1557231573 0.00001
NM_000052.7(ATP7A):c.2053C>G (p.Gln685Glu) rs1557234510 0.00001
NM_000052.7(ATP7A):c.2103G>T (p.Leu701=) rs1318545869 0.00001
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His) rs2234936 0.00001
NM_000052.7(ATP7A):c.2142G>A (p.Leu714=) rs782037158 0.00001
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val) rs1557234537 0.00001
NM_000052.7(ATP7A):c.2161G>T (p.Val721Leu) rs1557234543 0.00001
NM_000052.7(ATP7A):c.219T>C (p.Ala73=) rs1557231581 0.00001
NM_000052.7(ATP7A):c.2209A>G (p.Lys737Glu) rs782240491 0.00001
NM_000052.7(ATP7A):c.2212G>A (p.Ala738Thr) rs782389012 0.00001
NM_000052.7(ATP7A):c.2226G>C (p.Lys742Asn) rs782293297 0.00001
NM_000052.7(ATP7A):c.2253G>A (p.Val751=) rs782375469 0.00001
NM_000052.7(ATP7A):c.2254C>G (p.Leu752Val) rs1157086859 0.00001
NM_000052.7(ATP7A):c.2276C>T (p.Ala759Val) rs1557234739 0.00001
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp) rs1443260520 0.00001
NM_000052.7(ATP7A):c.2340C>T (p.Phe780=) rs2077838145 0.00001
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=) rs1557234754 0.00001
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val) rs782770209 0.00001
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val) rs1557234931 0.00001
NM_000052.7(ATP7A):c.2442A>G (p.Ser814=) rs781953495 0.00001
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=) rs368261204 0.00001
NM_000052.7(ATP7A):c.2499-9T>C rs1557235070 0.00001
NM_000052.7(ATP7A):c.2505A>G (p.Glu835=) rs1420350554 0.00001
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=) rs781950120 0.00001
NM_000052.7(ATP7A):c.255T>C (p.Thr85=) rs1557231589 0.00001
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=) rs1557235088 0.00001
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236 0.00001
NM_000052.7(ATP7A):c.2595A>G (p.Gly865=) rs1557235097 0.00001
NM_000052.7(ATP7A):c.2627-17C>T rs782200911 0.00001
NM_000052.7(ATP7A):c.2691C>T (p.Asn897=) rs781928048 0.00001
NM_000052.7(ATP7A):c.2697A>G (p.Ser899=) rs1557235606 0.00001
NM_000052.7(ATP7A):c.2712A>C (p.Ala904=) rs1396353749 0.00001
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile) rs369335432 0.00001
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=) rs1557235619 0.00001
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu) rs782225818 0.00001
NM_000052.7(ATP7A):c.2865A>G (p.Val955=) rs1557235728 0.00001
NM_000052.7(ATP7A):c.2917-7T>C rs376898023 0.00001
NM_000052.7(ATP7A):c.2923A>G (p.Asn975Asp) rs1557236695 0.00001
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser) rs1557236698 0.00001
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109 0.00001
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872 0.00001
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=) rs371089220 0.00001
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=) rs1057518370 0.00001
NM_000052.7(ATP7A):c.318A>G (p.Thr106=) rs781851530 0.00001
NM_000052.7(ATP7A):c.3198C>T (p.Asn1066=) rs2077983590 0.00001
NM_000052.7(ATP7A):c.3240T>C (p.Ala1080=) rs1557237065 0.00001
NM_000052.7(ATP7A):c.3294+10T>A rs2077984363 0.00001
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser) rs782066060 0.00001
NM_000052.7(ATP7A):c.330C>A (p.Thr110=) rs1557231608 0.00001
NM_000052.7(ATP7A):c.3396G>T (p.Lys1132Asn) rs782548907 0.00001
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val) rs371409820 0.00001
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly) rs1363235909 0.00001
NM_000052.7(ATP7A):c.3554G>A (p.Arg1185Gln) rs782435305 0.00001
NM_000052.7(ATP7A):c.3591C>T (p.Asn1197=) rs1391918882 0.00001
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile) rs782026169 0.00001
NM_000052.7(ATP7A):c.3606C>T (p.Phe1202=) rs782173299 0.00001
NM_000052.7(ATP7A):c.3659-5A>G rs1557238245 0.00001
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232 0.00001
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=) rs1557238252 0.00001
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg) rs1557238254 0.00001
NM_000052.7(ATP7A):c.3802-9A>G rs1557238565 0.00001
NM_000052.7(ATP7A):c.3885G>A (p.Arg1295=) rs895520660 0.00001
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu) rs782628250 0.00001
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=) rs782582761 0.00001
NM_000052.7(ATP7A):c.3915C>T (p.Asp1305=) rs781872987 0.00001
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=) rs1271447006 0.00001
NM_000052.7(ATP7A):c.4005+10A>G rs782188201 0.00001
NM_000052.7(ATP7A):c.4006-11T>A rs1325784914 0.00001
NM_000052.7(ATP7A):c.4132A>G (p.Met1378Val) rs782161783 0.00001
NM_000052.7(ATP7A):c.4152G>A (p.Leu1384=) rs781939808 0.00001
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu) rs1557231629 0.00001
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser) rs189818149 0.00001
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=) rs2078077936 0.00001
NM_000052.7(ATP7A):c.4227-12del rs1557239080 0.00001
NM_000052.7(ATP7A):c.4254T>C (p.Tyr1418=) rs990337633 0.00001
NM_000052.7(ATP7A):c.4293T>C (p.Pro1431=) rs1569550372 0.00001
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg) rs1557239111 0.00001
NM_000052.7(ATP7A):c.4311T>C (p.His1437=) rs782541211 0.00001
NM_000052.7(ATP7A):c.4355T>G (p.Leu1452Trp) rs1557239117 0.00001
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp) rs1457236338 0.00001
NM_000052.7(ATP7A):c.4375T>C (p.Tyr1459His) rs782272603 0.00001
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633 0.00001
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys) rs1557239144 0.00001
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala) rs782799150 0.00001
NM_000052.7(ATP7A):c.4449C>T (p.Asp1483=) rs1557239148 0.00001
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=) rs782053901 0.00001
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) rs782716555 0.00001
NM_000052.7(ATP7A):c.498T>C (p.Ala166=) rs782701351 0.00001
NM_000052.7(ATP7A):c.506G>A (p.Gly169Asp) rs782485590 0.00001
NM_000052.7(ATP7A):c.513C>T (p.Val171=) rs782643553 0.00001
NM_000052.7(ATP7A):c.514G>A (p.Val172Met) rs782248978 0.00001
NM_000052.7(ATP7A):c.531G>A (p.Val177=) rs1557231650 0.00001
NM_000052.7(ATP7A):c.532G>A (p.Glu178Lys) rs782675275 0.00001
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro) rs1557231656 0.00001
NM_000052.7(ATP7A):c.579T>A (p.Ile193=) rs2077652795 0.00001
NM_000052.7(ATP7A):c.605T>G (p.Ile202Ser) rs1557231670 0.00001
NM_000052.7(ATP7A):c.611-4C>T rs1287080060 0.00001
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile) rs1557231734 0.00001
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys) rs374855698 0.00001
NM_000052.7(ATP7A):c.807G>A (p.Arg269=) rs868946047 0.00001
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu) rs782146244 0.00001
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu) rs1039952708 0.00001
NM_000052.7(ATP7A):c.891T>A (p.Ser297Arg) rs782449900 0.00001
NM_000052.7(ATP7A):c.933T>C (p.Ser311=) rs782638418 0.00001
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=) rs1557231829 0.00001
NM_000053.4(ATP7B):c.1062C>A (p.Val354=) rs371971772 0.00001
NM_000053.4(ATP7B):c.1101C>T (p.Gly367=) rs759359836 0.00001
NM_000053.4(ATP7B):c.1173G>A (p.Ser391=) rs200431213 0.00001
NM_000053.4(ATP7B):c.1185C>T (p.Ala395=) rs764551529 0.00001
NM_000053.4(ATP7B):c.1200A>G (p.Thr400=) rs1413846557 0.00001
NM_000053.4(ATP7B):c.1286-7A>G rs759215571 0.00001
NM_000053.4(ATP7B):c.1326G>T (p.Gly442=) rs1371066375 0.00001
NM_000053.4(ATP7B):c.1461G>A (p.Pro487=) rs372068316 0.00001
NM_000053.4(ATP7B):c.1551C>G (p.Leu517=) rs866939606 0.00001
NM_000053.4(ATP7B):c.1567T>C (p.Leu523=) rs368662351 0.00001
NM_000053.4(ATP7B):c.15G>A (p.Glu5=) rs751634415 0.00001
NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser) rs778475094 0.00001
NM_000053.4(ATP7B):c.1707+10G>A rs1411137744 0.00001
NM_000053.4(ATP7B):c.1707+6_1707+7dup rs1407959482 0.00001
NM_000053.4(ATP7B):c.1707+7A>C rs766815919 0.00001
NM_000053.4(ATP7B):c.1707+8C>T rs373603934 0.00001
NM_000053.4(ATP7B):c.1708-14A>G rs751612293 0.00001
NM_000053.4(ATP7B):c.1749G>A (p.Glu583=) rs781688887 0.00001
NM_000053.4(ATP7B):c.1788C>T (p.Ser596=) rs765587604 0.00001
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672 0.00001
NM_000053.4(ATP7B):c.1857C>A (p.Ile619=) rs765501756 0.00001
NM_000053.4(ATP7B):c.1883A>G (p.His628Arg) rs528763888 0.00001
NM_000053.4(ATP7B):c.1896C>A (p.Ala632=) rs752696791 0.00001
NM_000053.4(ATP7B):c.1944G>A (p.Lys648=) rs1302960255 0.00001
NM_000053.4(ATP7B):c.1946+10A>G rs1225945135 0.00001
NM_000053.4(ATP7B):c.1959T>C (p.Ser653=) rs1218146194 0.00001
NM_000053.4(ATP7B):c.1962C>T (p.Phe654=) rs1278634529 0.00001
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys) rs2277447 0.00001
NM_000053.4(ATP7B):c.2067T>C (p.Ile689=) rs1274947728 0.00001
NM_000053.4(ATP7B):c.2121+7A>T rs1200174831 0.00001
NM_000053.4(ATP7B):c.2122-8T>C rs193922102 0.00001
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000053.4(ATP7B):c.2160A>G (p.Lys720=) rs753016869 0.00001
NM_000053.4(ATP7B):c.2211A>G (p.Thr737=) rs1262935021 0.00001
NM_000053.4(ATP7B):c.2244G>C (p.Leu748=) rs1461573235 0.00001
NM_000053.4(ATP7B):c.2268G>A (p.Ala756=) rs755387536 0.00001
NM_000053.4(ATP7B):c.2322T>C (p.Ile774=) rs755299474 0.00001
NM_000053.4(ATP7B):c.2346C>T (p.His782=) rs1441980053 0.00001
NM_000053.4(ATP7B):c.2379T>C (p.Ala793=) rs1343245429 0.00001
NM_000053.4(ATP7B):c.237G>A (p.Arg79=) rs554234394 0.00001
NM_000053.4(ATP7B):c.2400C>T (p.Ala800=) rs760562006 0.00001
NM_000053.4(ATP7B):c.2412C>T (p.Thr804=) rs372306234 0.00001
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323 0.00001
NM_000053.4(ATP7B):c.2447+9T>C rs777986992 0.00001
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=) rs755237462 0.00001
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=) rs759213674 0.00001
NM_000053.4(ATP7B):c.2511A>G (p.Gly837=) rs568128361 0.00001
NM_000053.4(ATP7B):c.2568C>T (p.Leu856=) rs1459783348 0.00001
NM_000053.4(ATP7B):c.2576-6G>A rs755819821 0.00001
NM_000053.4(ATP7B):c.2576-7C>T rs373160461 0.00001
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=) rs896503662 0.00001
NM_000053.4(ATP7B):c.2625G>A (p.Gly875=) rs1052834834 0.00001
NM_000053.4(ATP7B):c.2667C>T (p.His889=) rs373539367 0.00001
NM_000053.4(ATP7B):c.2679C>T (p.Asp893=) rs755739707 0.00001
NM_000053.4(ATP7B):c.2706G>A (p.Leu902=) rs1957897109 0.00001
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=) rs146232015 0.00001
NM_000053.4(ATP7B):c.2730+9G>A rs1292956745 0.00001
NM_000053.4(ATP7B):c.2835C>T (p.Ile945=) rs761169879 0.00001
NM_000053.4(ATP7B):c.2862T>C (p.Phe954=) rs972405411 0.00001
NM_000053.4(ATP7B):c.2922G>A (p.Thr974=) rs751802421 0.00001
NM_000053.4(ATP7B):c.2964G>T (p.Gly988=) rs761340503 0.00001
NM_000053.4(ATP7B):c.2985C>T (p.Val995=) rs758641148 0.00001
NM_000053.4(ATP7B):c.3042C>T (p.Pro1014=) rs1438628867 0.00001
NM_000053.4(ATP7B):c.3043C>T (p.Leu1015=) rs770693866 0.00001
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=) rs761888880 0.00001
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=) rs1192564410 0.00001
NM_000053.4(ATP7B):c.3150A>G (p.Thr1050=) rs771897428 0.00001
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=) rs534622837 0.00001
NM_000053.4(ATP7B):c.3169C>T (p.Leu1057=) rs587783308 0.00001
NM_000053.4(ATP7B):c.3183G>T (p.Gly1061=) rs994398327 0.00001
NM_000053.4(ATP7B):c.3216C>T (p.Gly1072=) rs971285419 0.00001
NM_000053.4(ATP7B):c.3243+17G>A rs201536688 0.00001
NM_000053.4(ATP7B):c.3244-5C>T rs747387270 0.00001
NM_000053.4(ATP7B):c.3291G>A (p.Val1097=) rs766632973 0.00001
NM_000053.4(ATP7B):c.3412+7C>T rs748522019 0.00001
NM_000053.4(ATP7B):c.3412+9_3412+10insCA rs772615378 0.00001
NM_000053.4(ATP7B):c.3413-8T>C rs1957312964 0.00001
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314 0.00001
NM_000053.4(ATP7B):c.3504T>A (p.Ala1168=) rs768438514 0.00001
NM_000053.4(ATP7B):c.3516C>T (p.His1172=) rs528866491 0.00001
NM_000053.4(ATP7B):c.3556+20T>G rs765755993 0.00001
NM_000053.4(ATP7B):c.3557-8C>T rs765668065 0.00001
NM_000053.4(ATP7B):c.3591T>C (p.Ala1197=) rs1349863798 0.00001
NM_000053.4(ATP7B):c.3618G>A (p.Val1206=) rs754144261 0.00001
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=) rs61957448 0.00001
NM_000053.4(ATP7B):c.363C>T (p.Phe121=) rs370199412 0.00001
NM_000053.4(ATP7B):c.3699+9C>T rs1593651766 0.00001
NM_000053.4(ATP7B):c.3700-7G>A rs756742483 0.00001
NM_000053.4(ATP7B):c.3738G>A (p.Ser1246=) rs376369653 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000053.4(ATP7B):c.3789C>T (p.Ala1263=) rs948094111 0.00001
NM_000053.4(ATP7B):c.3858C>T (p.Thr1286=) rs558520674 0.00001
NM_000053.4(ATP7B):c.3864G>A (p.Thr1288=) rs764702485 0.00001
NM_000053.4(ATP7B):c.3876C>T (p.Ile1292=) rs978231751 0.00001
NM_000053.4(ATP7B):c.3904-9C>T rs760375559 0.00001
NM_000053.4(ATP7B):c.3939T>C (p.Leu1313=) rs896916123 0.00001
NM_000053.4(ATP7B):c.3945G>A (p.Lys1315=) rs1957029752 0.00001
NM_000053.4(ATP7B):c.4021+3A>G rs565970531 0.00001
NM_000053.4(ATP7B):c.4022-3C>T rs531487054 0.00001
NM_000053.4(ATP7B):c.4022-6C>T rs1210514082 0.00001
NM_000053.4(ATP7B):c.4038C>T (p.Ile1346=) rs200582826 0.00001
NM_000053.4(ATP7B):c.4092G>T (p.Val1364=) rs771057142 0.00001
NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=) rs779979628 0.00001
NM_000053.4(ATP7B):c.4119C>G (p.Leu1373=) rs1593637201 0.00001
NM_000053.4(ATP7B):c.4124+8C>T rs1459365269 0.00001
NM_000053.4(ATP7B):c.4188G>A (p.Thr1396=) rs755406059 0.00001
NM_000053.4(ATP7B):c.423G>A (p.Gln141=) rs750657137 0.00001
NM_000053.4(ATP7B):c.4242C>T (p.Pro1414=) rs770290708 0.00001
NM_000053.4(ATP7B):c.4272T>C (p.Tyr1424=) rs780613139 0.00001
NM_000053.4(ATP7B):c.4296C>T (p.Ser1432=) rs776367340 0.00001
NM_000053.4(ATP7B):c.4305C>T (p.Ser1435=) rs771736533 0.00001
NM_000053.4(ATP7B):c.4308C>T (p.Asp1436=) rs778639218 0.00001
NM_000053.4(ATP7B):c.4326C>T (p.Ser1442=) rs1566428703 0.00001
NM_000053.4(ATP7B):c.4338C>T (p.Asp1446=) rs760661082 0.00001
NM_000053.4(ATP7B):c.444G>A (p.Arg148=) rs370903117 0.00001
NM_000053.4(ATP7B):c.459C>T (p.Thr153=) rs1009053966 0.00001
NM_000053.4(ATP7B):c.471T>C (p.Cys157=) rs748497024 0.00001
NM_000053.4(ATP7B):c.51+13C>T rs770273498 0.00001
NM_000053.4(ATP7B):c.51+9T>C rs374787021 0.00001
NM_000053.4(ATP7B):c.51+9T>G rs374787021 0.00001
NM_000053.4(ATP7B):c.52-5T>C rs762228338 0.00001
NM_000053.4(ATP7B):c.609C>T (p.Asp203=) rs781140058 0.00001
NM_000053.4(ATP7B):c.618T>C (p.Phe206=) rs764353593 0.00001
NM_000053.4(ATP7B):c.695C>T (p.Pro232Leu) rs777932681 0.00001
NM_000053.4(ATP7B):c.696A>G (p.Pro232=) rs202171959 0.00001
NM_000053.4(ATP7B):c.745T>C (p.Leu249=) rs756002947 0.00001
NM_000053.4(ATP7B):c.747G>A (p.Leu249=) rs554554415 0.00001
NM_000053.4(ATP7B):c.909T>G (p.Pro303=) rs1341159981 0.00001
NM_000053.4(ATP7B):c.951A>G (p.Ala317=) rs1951994227 0.00001
NM_000053.4(ATP7B):c.954T>C (p.Leu318=) rs1210454309 0.00001
NM_000053.4(ATP7B):c.990A>G (p.Gly330=) rs754086671 0.00001
NM_000053.4(ATP7B):c.999G>T (p.Gly333=) rs371930715 0.00001
NC_000013.11:g.52011733G>C rs145371060
NG_013224.2:g.(?_4960)_(103567_105489)dup
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val)
NM_000052.7(ATP7A):c.1008G>A (p.Glu336=)
NM_000052.7(ATP7A):c.1017A>T (p.Ser339=)
NM_000052.7(ATP7A):c.1023G>A (p.Gly341=) rs374656309
NM_000052.7(ATP7A):c.1032A>G (p.Arg344=)
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=)
NM_000052.7(ATP7A):c.105T>C (p.Gly35=)
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala) rs1557231859
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=)
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro)
NM_000052.7(ATP7A):c.1074C>T (p.Pro358=) rs2149083275
NM_000052.7(ATP7A):c.1080C>T (p.Ser360=)
NM_000052.7(ATP7A):c.108G>A (p.Val36=) rs2149073882
NM_000052.7(ATP7A):c.1108G>A (p.Val370Ile)
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala) rs782616685
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys) rs2077659011
NM_000052.7(ATP7A):c.1128A>G (p.Thr376=)
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=) rs2149083320
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly)
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=) rs2149083338
NM_000052.7(ATP7A):c.1176G>A (p.Val392=) rs2149083343
NM_000052.7(ATP7A):c.117T>A (p.Ile39=)
NM_000052.7(ATP7A):c.1182T>C (p.Ser394=) rs2149083355
NM_000052.7(ATP7A):c.1183A>G (p.Ile395Val)
NM_000052.7(ATP7A):c.1184T>C (p.Ile395Thr)
NM_000052.7(ATP7A):c.1191T>A (p.Gly397=) rs2149083372
NM_000052.7(ATP7A):c.120+14T>C
NM_000052.7(ATP7A):c.120+15G>A
NM_000052.7(ATP7A):c.120+20C>T
NM_000052.7(ATP7A):c.120+7T>C rs2149073895
NM_000052.7(ATP7A):c.120+8A>T
NM_000052.7(ATP7A):c.1200A>G (p.Ser400=)
NM_000052.7(ATP7A):c.121-12T>G
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)
NM_000052.7(ATP7A):c.1257T>G (p.Val419=)
NM_000052.7(ATP7A):c.126A>G (p.Ser42=) rs2149082519
NM_000052.7(ATP7A):c.127C>T (p.Leu43=)
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=)
NM_000052.7(ATP7A):c.1303A>G (p.Ile435Val)
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=) rs2149083467
NM_000052.7(ATP7A):c.1336+10A>G
NM_000052.7(ATP7A):c.1336+7dup
NM_000052.7(ATP7A):c.1336+9C>A
NM_000052.7(ATP7A):c.1337-16T>A
NM_000052.7(ATP7A):c.1337-17C>G
NM_000052.7(ATP7A):c.1340C>T (p.Thr447Met)
NM_000052.7(ATP7A):c.1344T>C (p.Asn448=) rs2149087769
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu)
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=) rs782421584
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val)
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=) rs2077718812
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile)
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=) rs2149087828
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=)
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=)
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=) rs2077719509
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=)
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=) rs2149087866
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=)
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=)
NM_000052.7(ATP7A):c.147T>C (p.Thr49=)
NM_000052.7(ATP7A):c.1486G>A (p.Gly496Ser)
NM_000052.7(ATP7A):c.1493C>G (p.Thr498Ser)
NM_000052.7(ATP7A):c.1500T>A (p.Ala500=)
NM_000052.7(ATP7A):c.1504T>C (p.Cys502Arg)
NM_000052.7(ATP7A):c.1506T>C (p.Cys502=) rs2149087893
NM_000052.7(ATP7A):c.150T>A (p.Ile50=) rs2149082532
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=)
NM_000052.7(ATP7A):c.1536G>T (p.Arg512=) rs1557232820
NM_000052.7(ATP7A):c.1543+15A>G
NM_000052.7(ATP7A):c.1543+17G>A rs2149087916
NM_000052.7(ATP7A):c.1543+18C>T
NM_000052.7(ATP7A):c.1543+8A>C
NM_000052.7(ATP7A):c.1544-16T>G
NM_000052.7(ATP7A):c.1544-7C>T rs2149090207
NM_000052.7(ATP7A):c.1555A>G (p.Ile519Val)
NM_000052.7(ATP7A):c.1566C>T (p.Ala522=) rs2149090230
NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)
NM_000052.7(ATP7A):c.1581G>A (p.Lys527=) rs2149090234
NM_000052.7(ATP7A):c.1592G>A (p.Arg531Lys)
NM_000052.7(ATP7A):c.159C>T (p.Asp53=) rs2149082542
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr)
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=)
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=)
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=)
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=) rs2149090265
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln)
NM_000052.7(ATP7A):c.166C>T (p.Leu56=) rs2149082544
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr) rs1603383823
NM_000052.7(ATP7A):c.1688A>T (p.Asp563Val) rs782561107
NM_000052.7(ATP7A):c.1695T>C (p.Val565=) rs2149090293
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=) rs2149090295
NM_000052.7(ATP7A):c.1707+12T>G
NM_000052.7(ATP7A):c.1707+17G>A
NM_000052.7(ATP7A):c.1707+19G>A
NM_000052.7(ATP7A):c.1707+9G>C rs2149090300
NM_000052.7(ATP7A):c.1708-16G>A
NM_000052.7(ATP7A):c.1708-5A>C rs782104249
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile)
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg) rs782076879
NM_000052.7(ATP7A):c.1731C>T (p.Ser577=) rs2149093501
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=)
NM_000052.7(ATP7A):c.1767C>T (p.His589=)
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=) rs2149093521
NM_000052.7(ATP7A):c.1779A>G (p.Leu593=) rs1557234093
NM_000052.7(ATP7A):c.1782C>T (p.Tyr594=)
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=)
NM_000052.7(ATP7A):c.180G>A (p.Lys60=)
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser) rs1569549840
NM_000052.7(ATP7A):c.1843C>G (p.Pro615Ala)
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
NM_000052.7(ATP7A):c.1869+12G>T
NM_000052.7(ATP7A):c.1869+17del
NM_000052.7(ATP7A):c.1869+7G>A rs2149093596
NM_000052.7(ATP7A):c.1869+7G>T rs2149093596
NM_000052.7(ATP7A):c.1869+9C>G rs2149093599
NM_000052.7(ATP7A):c.186A>G (p.Leu62=) rs2149082562
NM_000052.7(ATP7A):c.1870-14A>G
NM_000052.7(ATP7A):c.1870-18T>C
NM_000052.7(ATP7A):c.1870-7T>G
NM_000052.7(ATP7A):c.1873T>C (p.Leu625=) rs2149094927
NM_000052.7(ATP7A):c.1896C>G (p.Val632=) rs2149094955
NM_000052.7(ATP7A):c.189G>A (p.Gln63=)
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala)
NM_000052.7(ATP7A):c.1908G>A (p.Arg636=)
NM_000052.7(ATP7A):c.1908G>T (p.Arg636=)
NM_000052.7(ATP7A):c.1915A>G (p.Ser639Gly)
NM_000052.7(ATP7A):c.1920C>T (p.His640=) rs2149094980
NM_000052.7(ATP7A):c.1926T>A (p.Asp642Glu)
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.1932A>G (p.Lys644=)
NM_000052.7(ATP7A):c.1946+10T>G rs2149095008
NM_000052.7(ATP7A):c.1946+12G>A
NM_000052.7(ATP7A):c.1946+12G>C
NM_000052.7(ATP7A):c.1946+15G>C
NM_000052.7(ATP7A):c.1946+16T>G
NM_000052.7(ATP7A):c.1947-15T>C
NM_000052.7(ATP7A):c.1947-16A>C
NM_000052.7(ATP7A):c.1947-16_1947-14del rs2077824641
NM_000052.7(ATP7A):c.1947-16del rs2149095131
NM_000052.7(ATP7A):c.1947-17T>A
NM_000052.7(ATP7A):c.1947-18T>C
NM_000052.7(ATP7A):c.1947-19T>C
NM_000052.7(ATP7A):c.1947-7A>C
NM_000052.7(ATP7A):c.1947-9C>T rs2077824790
NM_000052.7(ATP7A):c.1956G>A (p.Arg652=) rs2077825077
NM_000052.7(ATP7A):c.1990G>C (p.Val664Leu)
NM_000052.7(ATP7A):c.1992A>G (p.Val664=)
NM_000052.7(ATP7A):c.19G>A (p.Val7Met)
NM_000052.7(ATP7A):c.2001G>A (p.Leu667=) rs2077825500
NM_000052.7(ATP7A):c.2001G>C (p.Leu667=) rs2077825500
NM_000052.7(ATP7A):c.2010T>C (p.Tyr670=) rs2149095200
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile)
NM_000052.7(ATP7A):c.2028C>T (p.His676=) rs2149095212
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=) rs2077825942
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=)
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=) rs2149095237
NM_000052.7(ATP7A):c.2094T>C (p.Ser698=) rs2077826356
NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)
NM_000052.7(ATP7A):c.210C>T (p.Gly70=)
NM_000052.7(ATP7A):c.2127G>A (p.Leu709=)
NM_000052.7(ATP7A):c.2142G>C (p.Leu714Phe)
NM_000052.7(ATP7A):c.2143C>T (p.Leu715=) rs2077826844
NM_000052.7(ATP7A):c.2145G>A (p.Leu715=) rs2149095287
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=)
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=) rs797045346
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=)
NM_000052.7(ATP7A):c.2172+12G>C rs1557234548
NM_000052.7(ATP7A):c.2172+13T>C
NM_000052.7(ATP7A):c.2172+8A>C rs2149095311
NM_000052.7(ATP7A):c.2173-15A>T
NM_000052.7(ATP7A):c.2173-4G>T
NM_000052.7(ATP7A):c.2193C>T (p.Phe731=)
NM_000052.7(ATP7A):c.2196C>T (p.Tyr732=)
NM_000052.7(ATP7A):c.21G>C (p.Val7=) rs2149073808
NM_000052.7(ATP7A):c.2200C>A (p.Gln734Lys)
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=)
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=)
NM_000052.7(ATP7A):c.222T>C (p.Val74=)
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
NM_000052.7(ATP7A):c.2244A>G (p.Val748=) rs2149095993
NM_000052.7(ATP7A):c.2247G>A (p.Leu749=)
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
NM_000052.7(ATP7A):c.2253G>T (p.Val751=)
NM_000052.7(ATP7A):c.2262C>T (p.Thr754=)
NM_000052.7(ATP7A):c.2265C>T (p.Thr755=) rs2149096003
NM_000052.7(ATP7A):c.2277C>T (p.Ala759=) rs1473914623
NM_000052.7(ATP7A):c.2304A>G (p.Ala768=)
NM_000052.7(ATP7A):c.2319C>A (p.Ala773=) rs2149096036
NM_000052.7(ATP7A):c.2322A>G (p.Lys774=) rs2149096038
NM_000052.7(ATP7A):c.2346C>T (p.Asp782=)
NM_000052.7(ATP7A):c.2349A>G (p.Thr783=)
NM_000052.7(ATP7A):c.2352C>T (p.Pro784=)
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=)
NM_000052.7(ATP7A):c.2359C>T (p.Leu787=) rs2149096056
NM_000052.7(ATP7A):c.2361G>A (p.Leu787=) rs2149096057
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val)
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=) rs1208805004
NM_000052.7(ATP7A):c.237C>T (p.Asp79=)
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=) rs1603385697
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr)
NM_000052.7(ATP7A):c.2406+12A>C
NM_000052.7(ATP7A):c.2406+14G>A
NM_000052.7(ATP7A):c.2406+14G>T
NM_000052.7(ATP7A):c.2406+16G>A
NM_000052.7(ATP7A):c.2406+16G>T
NM_000052.7(ATP7A):c.2406+16_2406+18del rs782017566
NM_000052.7(ATP7A):c.2406+19A>T
NM_000052.7(ATP7A):c.2407-19T>A
NM_000052.7(ATP7A):c.2407-19TGTT[3]
NM_000052.7(ATP7A):c.2407-4A>G rs2149096806
NM_000052.7(ATP7A):c.2407-4A>T rs2149096806
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=)
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=)
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=) rs782694822
NM_000052.7(ATP7A):c.2453C>T (p.Thr818Ile)
NM_000052.7(ATP7A):c.2454A>C (p.Thr818=) rs2149096833
NM_000052.7(ATP7A):c.2454A>G (p.Thr818=)
NM_000052.7(ATP7A):c.2460A>C (p.Ala820=)
NM_000052.7(ATP7A):c.2460A>T (p.Ala820=) rs2149096836
NM_000052.7(ATP7A):c.2463T>C (p.Thr821=) rs2149096842
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=)
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val)
NM_000052.7(ATP7A):c.2492T>A (p.Leu831His)
NM_000052.7(ATP7A):c.2498+16C>G
NM_000052.7(ATP7A):c.2498+18T>C
NM_000052.7(ATP7A):c.2499-10T>C rs2149097330
NM_000052.7(ATP7A):c.2499-11C>A
NM_000052.7(ATP7A):c.2499-12A>T rs2149097328
NM_000052.7(ATP7A):c.2499-18A>G
NM_000052.7(ATP7A):c.2499-20T>C
NM_000052.7(ATP7A):c.2499-7T>A
NM_000052.7(ATP7A):c.2526A>G (p.Val842=)
NM_000052.7(ATP7A):c.2528A>G (p.Gln843Arg)
NM_000052.7(ATP7A):c.2538T>C (p.Asp846=)
NM_000052.7(ATP7A):c.2559A>C (p.Gly853=)
NM_000052.7(ATP7A):c.2574G>A (p.Val858=)
NM_000052.7(ATP7A):c.2580T>A (p.Gly860=) rs2149097387
NM_000052.7(ATP7A):c.2586T>G (p.Val862=) rs2149097395
NM_000052.7(ATP7A):c.260C>T (p.Thr87Ile) rs782769542
NM_000052.7(ATP7A):c.261C>G (p.Thr87=) rs2149082604
NM_000052.7(ATP7A):c.2626+11T>G rs2077859760
NM_000052.7(ATP7A):c.2626+12C>G
NM_000052.7(ATP7A):c.2626+13A>G
NM_000052.7(ATP7A):c.2626+16G>A rs2149097436
NM_000052.7(ATP7A):c.2626+17G>C
NM_000052.7(ATP7A):c.2626+18A>G
NM_000052.7(ATP7A):c.2626+8C>T rs2149097424
NM_000052.7(ATP7A):c.2627-13A>T
NM_000052.7(ATP7A):c.2627-16T>G
NM_000052.7(ATP7A):c.2627-19A>G
NM_000052.7(ATP7A):c.2627-19A>T
NM_000052.7(ATP7A):c.2627-7C>T rs1603386991
NM_000052.7(ATP7A):c.2627-8C>G
NM_000052.7(ATP7A):c.2628G>A (p.Gly876=)
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=)
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu)
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=) rs781976106
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=) rs2149099638
NM_000052.7(ATP7A):c.2679C>G (p.Ser893=)
NM_000052.7(ATP7A):c.2694G>A (p.Gly898=) rs2149099672
NM_000052.7(ATP7A):c.2698C>T (p.Leu900=) rs2149099676
NM_000052.7(ATP7A):c.2704A>G (p.Ile902Val)
NM_000052.7(ATP7A):c.2712A>T (p.Ala904=) rs1396353749
NM_000052.7(ATP7A):c.2715A>T (p.Thr905=) rs1193758510
NM_000052.7(ATP7A):c.2716C>T (p.His906Tyr)
NM_000052.7(ATP7A):c.2734A>G (p.Thr912Ala)
NM_000052.7(ATP7A):c.2736C>A (p.Thr912=) rs2149099708
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=) rs1603387045
NM_000052.7(ATP7A):c.2781+14C>T
NM_000052.7(ATP7A):c.2781+17G>C
NM_000052.7(ATP7A):c.2781+8A>T rs2149099742
NM_000052.7(ATP7A):c.2782-11T>C
NM_000052.7(ATP7A):c.2782-13T>C
NM_000052.7(ATP7A):c.2782-14A>G
NM_000052.7(ATP7A):c.2782-14del
NM_000052.7(ATP7A):c.2782-4C>T
NM_000052.7(ATP7A):c.2782-6T>C
NM_000052.7(ATP7A):c.2782-8A>C rs2149100096
NM_000052.7(ATP7A):c.2782-9T>C
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) rs539177302
NM_000052.7(ATP7A):c.2790C>A (p.Ile930=) rs2149100114
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=) rs2149100126
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=)
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr)
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=)
NM_000052.7(ATP7A):c.2874A>C (p.Val958=)
NM_000052.7(ATP7A):c.2875A>G (p.Ile959Val)
NM_000052.7(ATP7A):c.2887A>G (p.Asn963Asp)
NM_000052.7(ATP7A):c.2898T>C (p.Ile966=)
NM_000052.7(ATP7A):c.2916+19C>T
NM_000052.7(ATP7A):c.2917-13C>A rs1343084607
NM_000052.7(ATP7A):c.2917-13C>T
NM_000052.7(ATP7A):c.2917-14C>T
NM_000052.7(ATP7A):c.2917-15G>T
NM_000052.7(ATP7A):c.2917-16T>C
NM_000052.7(ATP7A):c.2917-19T>G
NM_000052.7(ATP7A):c.2917-6C>T
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=) rs1557236690
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn)
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=) rs72554649
NM_000052.7(ATP7A):c.2949G>A (p.Thr983=) rs782757659
NM_000052.7(ATP7A):c.2949G>C (p.Thr983=)
NM_000052.7(ATP7A):c.2949G>T (p.Thr983=) rs782757659
NM_000052.7(ATP7A):c.2967C>T (p.Phe989=) rs2077967350
NM_000052.7(ATP7A):c.297A>C (p.Pro99=)
NM_000052.7(ATP7A):c.2986C>T (p.Leu996=)
NM_000052.7(ATP7A):c.3009A>C (p.Ser1003=) rs2077967684
NM_000052.7(ATP7A):c.3012G>C (p.Leu1004=) rs2149104881
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=)
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=)
NM_000052.7(ATP7A):c.3036G>A (p.Val1012=) rs2149104907
NM_000052.7(ATP7A):c.3042G>A (p.Val1014=)
NM_000052.7(ATP7A):c.3045T>C (p.Gly1015=) rs2149104924
NM_000052.7(ATP7A):c.3048A>T (p.Thr1016=) rs2149104926
NM_000052.7(ATP7A):c.3066T>A (p.Asn1022Lys)
NM_000052.7(ATP7A):c.3069C>A (p.Gly1023=)
NM_000052.7(ATP7A):c.3072A>G (p.Ile1024Met)
NM_000052.7(ATP7A):c.3072A>T (p.Ile1024=)
NM_000052.7(ATP7A):c.3081A>G (p.Lys1027=) rs2149104947
NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr) rs2077968562
NM_000052.7(ATP7A):c.3111+10T>C
NM_000052.7(ATP7A):c.3111+10T>G
NM_000052.7(ATP7A):c.3111+11C>A
NM_000052.7(ATP7A):c.3111+13C>G
NM_000052.7(ATP7A):c.3111+18A>T rs2149104971
NM_000052.7(ATP7A):c.3111+19C>T
NM_000052.7(ATP7A):c.3111+7C>T
NM_000052.7(ATP7A):c.3111+8A>G
NM_000052.7(ATP7A):c.3112-15_3112-14dup rs2077982901
NM_000052.7(ATP7A):c.3112-16C>G rs2149106076
NM_000052.7(ATP7A):c.3112-18A>G
NM_000052.7(ATP7A):c.3112-5T>C rs2149106085
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=)
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu)
NM_000052.7(ATP7A):c.311A>C (p.Gln104Pro)
NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=)
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=) rs797045370
NM_000052.7(ATP7A):c.3141A>C (p.Gly1047=)
NM_000052.7(ATP7A):c.3162A>G (p.Pro1054=)
NM_000052.7(ATP7A):c.3168G>A (p.Val1056=) rs371089220
NM_000052.7(ATP7A):c.3177A>C (p.Val1059=)
NM_000052.7(ATP7A):c.3186A>G (p.Leu1062=) rs2149106139
NM_000052.7(ATP7A):c.319T>C (p.Leu107=) rs2149082638
NM_000052.7(ATP7A):c.3212A>G (p.His1071Arg)
NM_000052.7(ATP7A):c.3226A>G (p.Ile1076Val)
NM_000052.7(ATP7A):c.3237T>G (p.Thr1079=) rs2149106153
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=)
NM_000052.7(ATP7A):c.3252T>C (p.Ser1084=) rs2149106168
NM_000052.7(ATP7A):c.3255A>G (p.Glu1085=) rs2149106169
NM_000052.7(ATP7A):c.3258C>T (p.His1086=)
NM_000052.7(ATP7A):c.3294+14C>T
NM_000052.7(ATP7A):c.3294+15dup
NM_000052.7(ATP7A):c.3294+16C>T
NM_000052.7(ATP7A):c.3294+7T>G
NM_000052.7(ATP7A):c.3295-11_3295-10del
NM_000052.7(ATP7A):c.3295-14T>C
NM_000052.7(ATP7A):c.3295-16T>C
NM_000052.7(ATP7A):c.3295-5G>T rs2149107138
NM_000052.7(ATP7A):c.3295-6del rs1557237411
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=)
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr)
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=)
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=)
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=) rs2149107179
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=)
NM_000052.7(ATP7A):c.339G>A (p.Val113=)
NM_000052.7(ATP7A):c.3423T>C (p.Asn1141=)
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=)
NM_000052.7(ATP7A):c.3462T>C (p.Asn1154=) rs2149107223
NM_000052.7(ATP7A):c.3465A>G (p.Glu1155=)
NM_000052.7(ATP7A):c.3486C>T (p.Ser1162=)
NM_000052.7(ATP7A):c.3487A>G (p.Met1163Val)
NM_000052.7(ATP7A):c.3488T>A (p.Met1163Lys)
NM_000052.7(ATP7A):c.3489G>A (p.Met1163Ile)
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=) rs2077996988
NM_000052.7(ATP7A):c.3501C>T (p.Ala1167=)
NM_000052.7(ATP7A):c.3507C>T (p.Ile1169=)
NM_000052.7(ATP7A):c.3511+8A>C rs2149107265
NM_000052.7(ATP7A):c.3511+9A>C
NM_000052.7(ATP7A):c.3511+9A>T rs2149107266
NM_000052.7(ATP7A):c.3512-14G>A
NM_000052.7(ATP7A):c.3512-16C>T
NM_000052.7(ATP7A):c.3512-6T>C rs2078029932
NM_000052.7(ATP7A):c.3512-7C>T
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=)
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=)
NM_000052.7(ATP7A):c.357C>T (p.Tyr119=)
NM_000052.7(ATP7A):c.3582C>T (p.Val1194=)
NM_000052.7(ATP7A):c.358C>T (p.Pro120Ser)
NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr)
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.360T>G (p.Pro120=)
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=)
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=)
NM_000052.7(ATP7A):c.3631C>T (p.Arg1211Trp)
NM_000052.7(ATP7A):c.3658+17G>T
NM_000052.7(ATP7A):c.3658+19A>G
NM_000052.7(ATP7A):c.3659-7A>G
NM_000052.7(ATP7A):c.3659-9C>T
NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=)
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser)
NM_000052.7(ATP7A):c.3699G>A (p.Lys1233=) rs2149110480
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=)
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.3753T>C (p.Val1251=)
NM_000052.7(ATP7A):c.3754C>T (p.Leu1252=) rs2149110492
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val)
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=) rs1557238272
NM_000052.7(ATP7A):c.3801+11G>A
NM_000052.7(ATP7A):c.3801+17T>C
NM_000052.7(ATP7A):c.3801+20G>A
NM_000052.7(ATP7A):c.3802-15A>G
NM_000052.7(ATP7A):c.3802-6A>G rs2149111706
NM_000052.7(ATP7A):c.3802-6A>T rs2149111706
NM_000052.7(ATP7A):c.3810T>C (p.Ile1270=) rs2149111712
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=) rs2149111740
NM_000052.7(ATP7A):c.385A>G (p.Ile129Val)
NM_000052.7(ATP7A):c.3861G>A (p.Lys1287=) rs1043267619
NM_000052.7(ATP7A):c.3864A>G (p.Gln1288=) rs2149111751
NM_000052.7(ATP7A):c.3867T>G (p.Leu1289=)
NM_000052.7(ATP7A):c.3876G>A (p.Glu1292=)
NM_000052.7(ATP7A):c.3879G>A (p.Gly1293=)
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=) rs372489000
NM_000052.7(ATP7A):c.3888A>G (p.Val1296=)
NM_000052.7(ATP7A):c.3927G>A (p.Leu1309=)
NM_000052.7(ATP7A):c.3930A>G (p.Ala1310=)
NM_000052.7(ATP7A):c.3939T>C (p.Asn1313=) rs2149111823
NM_000052.7(ATP7A):c.393T>A (p.Pro131=)
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=)
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=)
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=)
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=) rs369114635
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=)
NM_000052.7(ATP7A):c.3993G>A (p.Val1331=)
NM_000052.7(ATP7A):c.39T>C (p.Ser13=) rs986987107
NM_000052.7(ATP7A):c.4005+13G>T
NM_000052.7(ATP7A):c.4005+16T>A
NM_000052.7(ATP7A):c.4005+17G>C
NM_000052.7(ATP7A):c.4006-10C>G
NM_000052.7(ATP7A):c.4006-13T>C
NM_000052.7(ATP7A):c.4006-4T>C
NM_000052.7(ATP7A):c.4006-7T>A
NM_000052.7(ATP7A):c.400G>A (p.Val134Met)
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=) rs2078061918
NM_000052.7(ATP7A):c.402G>C (p.Val134=)
NM_000052.7(ATP7A):c.4038C>A (p.Asp1346Glu) rs375819425
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=) rs375819425
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=)
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=) rs1603391261
NM_000052.7(ATP7A):c.4071A>C (p.Ile1357=) rs2078062354
NM_000052.7(ATP7A):c.4074T>C (p.Asn1358=)
NM_000052.7(ATP7A):c.4113C>T (p.Pro1371=)
NM_000052.7(ATP7A):c.4123+12T>A
NM_000052.7(ATP7A):c.4123+17T>C
NM_000052.7(ATP7A):c.4123+17T>G
NM_000052.7(ATP7A):c.4124-13A>G
NM_000052.7(ATP7A):c.4124-16C>T
NM_000052.7(ATP7A):c.4124-17C>A
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=) rs2149113522
NM_000052.7(ATP7A):c.4166G>C (p.Gly1389Ala)
NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=)
NM_000052.7(ATP7A):c.4176A>G (p.Ala1392=) rs2149113538
NM_000052.7(ATP7A):c.4182T>A (p.Ala1394=) rs2149113545
NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=)
NM_000052.7(ATP7A):c.4226+12A>G
NM_000052.7(ATP7A):c.4226+18C>A
NM_000052.7(ATP7A):c.4226+20C>T
NM_000052.7(ATP7A):c.4226+7A>G
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4227-10A>G
NM_000052.7(ATP7A):c.4227-11C>T rs2149113924
NM_000052.7(ATP7A):c.4227-12G>C
NM_000052.7(ATP7A):c.4227-16T>C
NM_000052.7(ATP7A):c.4227-17C>T
NM_000052.7(ATP7A):c.4227-18del
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu)
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=) rs2078083306
NM_000052.7(ATP7A):c.4264G>T (p.Ala1422Ser)
NM_000052.7(ATP7A):c.4266C>T (p.Ala1422=) rs2149113967
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp) rs149079962
NM_000052.7(ATP7A):c.4272C>T (p.Ser1424=) rs2149113981
NM_000052.7(ATP7A):c.4277T>C (p.Ile1426Thr)
NM_000052.7(ATP7A):c.429T>G (p.Val143=) rs2149082691
NM_000052.7(ATP7A):c.4308T>C (p.Val1436=) rs2149114009
NM_000052.7(ATP7A):c.4332A>G (p.Ser1444=) rs2149114035
NM_000052.7(ATP7A):c.4348C>T (p.Leu1450=) rs2149114038
NM_000052.7(ATP7A):c.4350G>T (p.Leu1450=) rs2149114044
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=)
NM_000052.7(ATP7A):c.444A>G (p.Leu148=)
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=) rs1603391708
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=)
NM_000052.7(ATP7A):c.453G>T (p.Gly151=)
NM_000052.7(ATP7A):c.479G>C (p.Cys160Ser)
NM_000052.7(ATP7A):c.48T>G (p.Gly16=) rs2149073819
NM_000052.7(ATP7A):c.504T>C (p.Ala168=)
NM_000052.7(ATP7A):c.523A>G (p.Met175Val)
NM_000052.7(ATP7A):c.528A>G (p.Lys176=) rs2149082749
NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro)
NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala)
NM_000052.7(ATP7A):c.534A>G (p.Glu178=) rs2077652554
NM_000052.7(ATP7A):c.537G>A (p.Gly179=)
NM_000052.7(ATP7A):c.543C>T (p.Thr181=)
NM_000052.7(ATP7A):c.552A>G (p.Ser184=) rs1557231655
NM_000052.7(ATP7A):c.552A>T (p.Ser184=)
NM_000052.7(ATP7A):c.555T>C (p.Cys185=)
NM_000052.7(ATP7A):c.558T>G (p.Thr186=)
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)
NM_000052.7(ATP7A):c.57C>T (p.Cys19=) rs145406974
NM_000052.7(ATP7A):c.597T>C (p.Val199=)
NM_000052.7(ATP7A):c.610+10C>T
NM_000052.7(ATP7A):c.610+13G>A
NM_000052.7(ATP7A):c.610+15G>T
NM_000052.7(ATP7A):c.610+18G>T
NM_000052.7(ATP7A):c.610+19A>C
NM_000052.7(ATP7A):c.610+20T>C
NM_000052.7(ATP7A):c.611-10T>C rs2149083014
NM_000052.7(ATP7A):c.611-16del
NM_000052.7(ATP7A):c.611-20T>C
NM_000052.7(ATP7A):c.611-21_611-17del rs1350377636
NM_000052.7(ATP7A):c.611-6A>G
NM_000052.7(ATP7A):c.612C>T (p.Val204=) rs2077655830
NM_000052.7(ATP7A):c.616C>T (p.Leu206=)
NM_000052.7(ATP7A):c.641T>C (p.Val214Ala)
NM_000052.7(ATP7A):c.656T>G (p.Leu219Arg)
NM_000052.7(ATP7A):c.678A>G (p.Lys226=)
NM_000052.7(ATP7A):c.687T>C (p.Ile229=)
NM_000052.7(ATP7A):c.69T>G (p.Val23=)
NM_000052.7(ATP7A):c.714C>A (p.Val238=) rs2149083069
NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu)
NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr) rs184646064
NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile)
NM_000052.7(ATP7A):c.753T>C (p.Asp251=) rs2149083096
NM_000052.7(ATP7A):c.756A>G (p.Val252=)
NM_000052.7(ATP7A):c.774A>G (p.Thr258=)
NM_000052.7(ATP7A):c.789A>G (p.Ser263=)
NM_000052.7(ATP7A):c.798A>G (p.Ser266=)
NM_000052.7(ATP7A):c.801G>A (p.Gln267=)
NM_000052.7(ATP7A):c.816A>G (p.Ser272=) rs2149083124
NM_000052.7(ATP7A):c.81G>A (p.Glu27=) rs2149073851
NM_000052.7(ATP7A):c.822C>T (p.Thr274=) rs2149083127
NM_000052.7(ATP7A):c.824A>T (p.Asn275Ile)
NM_000052.7(ATP7A):c.828T>C (p.Asp276=) rs2077656976
NM_000052.7(ATP7A):c.831A>T (p.Ser277=) rs2149083138
NM_000052.7(ATP7A):c.837C>T (p.Ala279=)
NM_000052.7(ATP7A):c.843C>T (p.Phe281=)
NM_000052.7(ATP7A):c.849T>A (p.Ile283=)
NM_000052.7(ATP7A):c.84G>A (p.Gln28=) rs1603378828
NM_000052.7(ATP7A):c.860A>G (p.His287Arg)
NM_000052.7(ATP7A):c.870A>C (p.Ser290=)
NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg)
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.7(ATP7A):c.906C>T (p.Leu302=)
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)
NM_000052.7(ATP7A):c.927A>G (p.Val309=) rs2149083187
NM_000052.7(ATP7A):c.939G>A (p.Glu313=)
NM_000052.7(ATP7A):c.942T>C (p.Asn314=) rs2149083195
NM_000052.7(ATP7A):c.945G>A (p.Arg315=) rs2149083198
NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr) rs2149083223
NM_000052.7(ATP7A):c.978C>T (p.Val326=)
NM_000053.3(ATP7B):c.-122_-118dup rs1555304635
NM_000053.3(ATP7B):c.-127CG[2][1] rs1555304648
NM_000053.4(ATP7B):c.*1744C>T rs9535794
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=) rs1951990469
NM_000053.4(ATP7B):c.1014C>T (p.His338=) rs2140078383
NM_000053.4(ATP7B):c.1015A>C (p.Arg339=) rs768698497
NM_000053.4(ATP7B):c.1017G>A (p.Arg339=)
NM_000053.4(ATP7B):c.1023C>T (p.Ser341=) rs1593788631
NM_000053.4(ATP7B):c.102G>A (p.Lys34=) rs2140115866
NM_000053.4(ATP7B):c.1035C>G (p.Ser345=) rs749528474
NM_000053.4(ATP7B):c.1044C>G (p.Ser348=) rs1292320157
NM_000053.4(ATP7B):c.1044C>T (p.Ser348=)
NM_000053.4(ATP7B):c.1047A>C (p.Pro349=)
NM_000053.4(ATP7B):c.1068C>T (p.Gly356=)
NM_000053.4(ATP7B):c.1071A>C (p.Thr357=)
NM_000053.4(ATP7B):c.1071A>G (p.Thr357=) rs970380935
NM_000053.4(ATP7B):c.1074C>T (p.Cys358=)
NM_000053.4(ATP7B):c.1080C>G (p.Thr360=) rs2140074628
NM_000053.4(ATP7B):c.1080C>T (p.Thr360=)
NM_000053.4(ATP7B):c.1092C>G (p.Ala364=) rs1482077950
NM_000053.4(ATP7B):c.1107C>A (p.Thr369=)
NM_000053.4(ATP7B):c.1110T>C (p.Cys370=)
NM_000053.4(ATP7B):c.1113A>G (p.Ala371=)
NM_000053.4(ATP7B):c.1116C>G (p.Ser372=)
NM_000053.4(ATP7B):c.1119T>C (p.Cys373=) rs2140072962
NM_000053.4(ATP7B):c.111T>C (p.Phe37=) rs748698125
NM_000053.4(ATP7B):c.1131T>A (p.Ile377=)
NM_000053.4(ATP7B):c.1149A>G (p.Gln383=)
NM_000053.4(ATP7B):c.1150C>T (p.Leu384=) rs2140071717
NM_000053.4(ATP7B):c.1155A>G (p.Glu385=)
NM_000053.4(ATP7B):c.1158G>A (p.Gly386=) rs778775834
NM_000053.4(ATP7B):c.1161G>A (p.Val387=)
NM_000053.4(ATP7B):c.1164G>A (p.Gln388=) rs2140070526
NM_000053.4(ATP7B):c.1173G>C (p.Ser391=)
NM_000053.4(ATP7B):c.1176G>T (p.Val392=) rs1951977983
NM_000053.4(ATP7B):c.1179T>A (p.Ser393=)
NM_000053.4(ATP7B):c.1185C>G (p.Ala395=)
NM_000053.4(ATP7B):c.1191G>A (p.Gly397=) rs561017302
NM_000053.4(ATP7B):c.1191G>C (p.Gly397=)
NM_000053.4(ATP7B):c.1215_1216delinsTG (p.Ser406Ala) rs2140067853
NM_000053.4(ATP7B):c.1221A>T (p.Val407=)
NM_000053.4(ATP7B):c.1224T>C (p.Ile408=)
NM_000053.4(ATP7B):c.1236A>G (p.Glu412=)
NM_000053.4(ATP7B):c.123T>C (p.Asn41=) rs1483616454
NM_000053.4(ATP7B):c.1242A>G (p.Arg414=) rs370784013
NM_000053.4(ATP7B):c.1257C>T (p.Asp419=)
NM_000053.4(ATP7B):c.1272T>G (p.Ala424=)
NM_000053.4(ATP7B):c.1275A>G (p.Ser425=)
NM_000053.4(ATP7B):c.1285+7A>G
NM_000053.4(ATP7B):c.1285+8G>C rs377584333
NM_000053.4(ATP7B):c.1285+8G>T
NM_000053.4(ATP7B):c.1285+9T>A
NM_000053.4(ATP7B):c.1286-10T>C
NM_000053.4(ATP7B):c.1286-14A>C
NM_000053.4(ATP7B):c.1286-14A>G
NM_000053.4(ATP7B):c.1286-15G>A
NM_000053.4(ATP7B):c.1286-16T>C
NM_000053.4(ATP7B):c.1286-19T>G
NM_000053.4(ATP7B):c.1286-6T>C rs2139975568
NM_000053.4(ATP7B):c.1296T>A (p.Ser432=)
NM_000053.4(ATP7B):c.129C>T (p.Gly43=)
NM_000053.4(ATP7B):c.1302C>T (p.Asn434=)
NM_000053.4(ATP7B):c.1305T>C (p.Pro435=)
NM_000053.4(ATP7B):c.1317C>T (p.His439=)
NM_000053.4(ATP7B):c.1326G>A (p.Gly442=) rs1371066375
NM_000053.4(ATP7B):c.1329T>C (p.Asn443=)
NM_000053.4(ATP7B):c.132T>C (p.Tyr44=)
NM_000053.4(ATP7B):c.1344T>C (p.Thr448=) rs2139972320
NM_000053.4(ATP7B):c.1356A>G (p.Thr452=)
NM_000053.4(ATP7B):c.1359T>G (p.Pro453=) rs2139970676
NM_000053.4(ATP7B):c.1362A>C (p.Thr454=)
NM_000053.4(ATP7B):c.1366G>T (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1368G>T (p.Val456=)
NM_000053.4(ATP7B):c.1374A>G (p.Glu458=) rs1298098944
NM_000053.4(ATP7B):c.1383C>G (p.Pro461=)
NM_000053.4(ATP7B):c.1386C>T (p.His462=)
NM_000053.4(ATP7B):c.1401T>A (p.Pro467=)
NM_000053.4(ATP7B):c.1401T>C (p.Pro467=)
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=) rs529527733
NM_000053.4(ATP7B):c.1416G>T (p.Pro472=)
NM_000053.4(ATP7B):c.1419C>T (p.Asp473=) rs1951791845
NM_000053.4(ATP7B):c.1428A>C (p.Ala476=) rs914451059
NM_000053.4(ATP7B):c.1428A>G (p.Ala476=) rs914451059
NM_000053.4(ATP7B):c.142C>T (p.Leu48=) rs1593792416
NM_000053.4(ATP7B):c.1431G>A (p.Lys477=)
NM_000053.4(ATP7B):c.1434C>T (p.Ser478=)
NM_000053.4(ATP7B):c.1440A>G (p.Gln480=)
NM_000053.4(ATP7B):c.1446C>G (p.Thr482=)
NM_000053.4(ATP7B):c.1452A>G (p.Ala484=) rs1353189490
NM_000053.4(ATP7B):c.1464G>A (p.Gln488=) rs2139963919
NM_000053.4(ATP7B):c.1467G>A (p.Lys489=)
NM_000053.4(ATP7B):c.1470C>T (p.Cys490=)
NM_000053.4(ATP7B):c.1485A>G (p.Lys495=) rs2139963160
NM_000053.4(ATP7B):c.1494C>T (p.Thr498=) rs1951787914
NM_000053.4(ATP7B):c.150C>T (p.Gly50=)
NM_000053.4(ATP7B):c.1515C>T (p.Asn505=)
NM_000053.4(ATP7B):c.151C>T (p.Leu51=)
NM_000053.4(ATP7B):c.1536A>G (p.Lys512=) rs1209399847
NM_000053.4(ATP7B):c.1543+10G>T
NM_000053.4(ATP7B):c.1543+14G>C
NM_000053.4(ATP7B):c.1543+15C>G rs1365158305
NM_000053.4(ATP7B):c.1543+17_1543+18del
NM_000053.4(ATP7B):c.1543+18A>G
NM_000053.4(ATP7B):c.1543+19T>C
NM_000053.4(ATP7B):c.1543+9_1543+12dup
NM_000053.4(ATP7B):c.1544-11G>A
NM_000053.4(ATP7B):c.1544-13C>G
NM_000053.4(ATP7B):c.1544-20C>A
NM_000053.4(ATP7B):c.1544-4C>T
NM_000053.4(ATP7B):c.1548T>C (p.Val516=) rs1593766763
NM_000053.4(ATP7B):c.1551C>T (p.Leu517=)
NM_000053.4(ATP7B):c.1557G>A (p.Val519=) rs2139897244
NM_000053.4(ATP7B):c.156C>T (p.Gly52=)
NM_000053.4(ATP7B):c.1584A>G (p.Ala528=)
NM_000053.4(ATP7B):c.1590C>A (p.Ile530=) rs745800861
NM_000053.4(ATP7B):c.1599C>T (p.Asp533=) rs2139894042
NM_000053.4(ATP7B):c.1602A>G (p.Pro534=) rs2139893951
NM_000053.4(ATP7B):c.1608C>A (p.Val536=)
NM_000053.4(ATP7B):c.1617C>A (p.Pro539=)
NM_000053.4(ATP7B):c.1617C>G (p.Pro539=)
NM_000053.4(ATP7B):c.1617C>T (p.Pro539=)
NM_000053.4(ATP7B):c.1620C>G (p.Leu540=)
NM_000053.4(ATP7B):c.1623G>A (p.Glu541=)
NM_000053.4(ATP7B):c.1629T>C (p.Ala543=)
NM_000053.4(ATP7B):c.1644C>T (p.Asp548=)
NM_000053.4(ATP7B):c.1647G>T (p.Leu549=)
NM_000053.4(ATP7B):c.1653T>C (p.Phe551=)
NM_000053.4(ATP7B):c.1662A>G (p.Ala554=)
NM_000053.4(ATP7B):c.1665C>A (p.Val555=)
NM_000053.4(ATP7B):c.1674C>T (p.Asp558=) rs2139887509
NM_000053.4(ATP7B):c.1680A>G (p.Ala560=)
NM_000053.4(ATP7B):c.1689T>C (p.Asp563=)
NM_000053.4(ATP7B):c.1695C>T (p.Asn565=)
NM_000053.4(ATP7B):c.1707+17C>A
NM_000053.4(ATP7B):c.1707+17C>G
NM_000053.4(ATP7B):c.1707+17C>T rs199571857
NM_000053.4(ATP7B):c.1707+18G>A
NM_000053.4(ATP7B):c.1708-15C>T
NM_000053.4(ATP7B):c.1708-17G>A
NM_000053.4(ATP7B):c.1708-4G>A rs1951476196
NM_000053.4(ATP7B):c.1708-9G>A
NM_000053.4(ATP7B):c.1710C>T (p.Ile570=) rs2139780456
NM_000053.4(ATP7B):c.1713A>G (p.Thr571=)
NM_000053.4(ATP7B):c.1722C>T (p.Thr574=)
NM_000053.4(ATP7B):c.1725C>T (p.Cys575=)
NM_000053.4(ATP7B):c.1728G>T (p.Ala576=)
NM_000053.4(ATP7B):c.1731C>T (p.Ser577=)
NM_000053.4(ATP7B):c.1737C>G (p.Val579=)
NM_000053.4(ATP7B):c.1737C>T (p.Val579=)
NM_000053.4(ATP7B):c.1740C>T (p.His580=)
NM_000053.4(ATP7B):c.1746A>C (p.Ile582=) rs2139776638
NM_000053.4(ATP7B):c.1761G>A (p.Thr587=) rs764068870
NM_000053.4(ATP7B):c.1762A>C (p.Arg588=) rs1566559391
NM_000053.4(ATP7B):c.1764G>A (p.Arg588=)
NM_000053.4(ATP7B):c.1773C>T (p.Gly591=)
NM_000053.4(ATP7B):c.1776C>A (p.Ile592=) rs2139774694
NM_000053.4(ATP7B):c.177C>G (p.Thr59=)
NM_000053.4(ATP7B):c.1782T>C (p.Tyr594=) rs2139774324
NM_000053.4(ATP7B):c.1788C>G (p.Ser596=)
NM_000053.4(ATP7B):c.1800C>T (p.Ala600=) rs2139773313
NM_000053.4(ATP7B):c.1806C>T (p.Ser602=)
NM_000053.4(ATP7B):c.1812C>T (p.Ala604=)
NM_000053.4(ATP7B):c.183A>G (p.Thr61=)
NM_000053.4(ATP7B):c.1851T>C (p.Asp617=)
NM_000053.4(ATP7B):c.1866T>A (p.Ile622=)
NM_000053.4(ATP7B):c.1866T>C (p.Ile622=) rs1951464000
NM_000053.4(ATP7B):c.1869+12A>G
NM_000053.4(ATP7B):c.1869+12A>T
NM_000053.4(ATP7B):c.1869+14T>A
NM_000053.4(ATP7B):c.1869+18_1869+20del rs758773114
NM_000053.4(ATP7B):c.1869+19A>G
NM_000053.4(ATP7B):c.1869+19_1869+20del
NM_000053.4(ATP7B):c.1869+20A>C
NM_000053.4(ATP7B):c.1869+9T>C rs2139767115
NM_000053.4(ATP7B):c.186C>T (p.Val62=) rs1187762934
NM_000053.4(ATP7B):c.1870-14T>C
NM_000053.4(ATP7B):c.1870-17C>G
NM_000053.4(ATP7B):c.1870-19C>T
NM_000053.4(ATP7B):c.1870-20C>T
NM_000053.4(ATP7B):c.1870-4C>T
NM_000053.4(ATP7B):c.1870-7T>C
NM_000053.4(ATP7B):c.1878C>G (p.Gly626=) rs587783300
NM_000053.4(ATP7B):c.1878C>T (p.Gly626=) rs587783300
NM_000053.4(ATP7B):c.1887T>C (p.Ala629=) rs1555292354
NM_000053.4(ATP7B):c.1887T>G (p.Ala629=) rs1555292354
NM_000053.4(ATP7B):c.1911C>T (p.Asn637=) rs770640457
NM_000053.4(ATP7B):c.1921T>C (p.Leu641=)
NM_000053.4(ATP7B):c.1926C>T (p.Asp642=) rs2139666833
NM_000053.4(ATP7B):c.1946+13C>T
NM_000053.4(ATP7B):c.1946+16A>C
NM_000053.4(ATP7B):c.1947-11T>G
NM_000053.4(ATP7B):c.1947-15G>A
NM_000053.4(ATP7B):c.1947-17C>T
NM_000053.4(ATP7B):c.1947-6T>C
NM_000053.4(ATP7B):c.1947-8C>A
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1965G>C (p.Leu655=)
NM_000053.4(ATP7B):c.1968C>T (p.Cys656=) rs2139611953
NM_000053.4(ATP7B):c.1972C>T (p.Leu658=)
NM_000053.4(ATP7B):c.1983C>T (p.Gly661=)
NM_000053.4(ATP7B):c.1986C>T (p.Ile662=)
NM_000053.4(ATP7B):c.1989T>C (p.Pro663=)
NM_000053.4(ATP7B):c.198C>G (p.Gly66=)
NM_000053.4(ATP7B):c.2025C>T (p.Ser675=) rs2139607888
NM_000053.4(ATP7B):c.2034C>A (p.Pro678=)
NM_000053.4(ATP7B):c.2034C>G (p.Pro678=) rs571680164
NM_000053.4(ATP7B):c.2049C>T (p.Val683=) rs2139606106
NM_000053.4(ATP7B):c.2058C>T (p.His686=)
NM_000053.4(ATP7B):c.2076G>A (p.Leu692=) rs2139604781
NM_000053.4(ATP7B):c.207C>T (p.Cys69=)
NM_000053.4(ATP7B):c.2088T>C (p.Asn696=) rs2139604066
NM_000053.4(ATP7B):c.2091C>A (p.Leu697=) rs1486015000
NM_000053.4(ATP7B):c.2094C>T (p.Ile698=)
NM_000053.4(ATP7B):c.2118C>T (p.Val706=)
NM_000053.4(ATP7B):c.2121+19G>T rs202091743
NM_000053.4(ATP7B):c.2121+7A>G
NM_000053.4(ATP7B):c.2122-14T>C
NM_000053.4(ATP7B):c.2122-16T>C
NM_000053.4(ATP7B):c.2122-19C>A
NM_000053.4(ATP7B):c.2122-4T>C
NM_000053.4(ATP7B):c.2122-9G>A
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=) rs779988850
NM_000053.4(ATP7B):c.2124C>T (p.Leu708=) rs779988850
NM_000053.4(ATP7B):c.2125C>T (p.Leu709Phe)
NM_000053.4(ATP7B):c.2139C>T (p.Tyr713=)
NM_000053.4(ATP7B):c.213A>G (p.Ser71=) rs1952036108
NM_000053.4(ATP7B):c.2166G>A (p.Leu722=) rs587783302
NM_000053.4(ATP7B):c.2169A>G (p.Arg723=)
NM_000053.4(ATP7B):c.2181C>T (p.Ala727=)
NM_000053.4(ATP7B):c.2193G>A (p.Val731=)
NM_000053.4(ATP7B):c.2202C>A (p.Val734=) rs1593726245
NM_000053.4(ATP7B):c.2202C>G (p.Val734=) rs1593726245
NM_000053.4(ATP7B):c.2208C>A (p.Ala736=) rs1593726238
NM_000053.4(ATP7B):c.2232T>C (p.Ser744=)
NM_000053.4(ATP7B):c.2235G>C (p.Leu745=)
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=) rs757991922
NM_000053.4(ATP7B):c.2241C>T (p.Ile747=) rs757991922
NM_000053.4(ATP7B):c.225C>T (p.Ser75=) rs1218959048
NM_000053.4(ATP7B):c.2271G>A (p.Glu757=) rs2139534393
NM_000053.4(ATP7B):c.2286A>G (p.Thr762=) rs750477816
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) rs750477816
NM_000053.4(ATP7B):c.2295C>T (p.Asp765=)
NM_000053.4(ATP7B):c.2310C>T (p.Leu770=)
NM_000053.4(ATP7B):c.2325C>A (p.Ala775=) rs755218710
NM_000053.4(ATP7B):c.2325C>T (p.Ala775=) rs755218710
NM_000053.4(ATP7B):c.2332C>A (p.Arg778=)
NM_000053.4(ATP7B):c.2340G>T (p.Leu780=) rs2139527463
NM_000053.4(ATP7B):c.2343A>G (p.Glu781=) rs1958488858
NM_000053.4(ATP7B):c.2349G>A (p.Leu783=) rs778848412
NM_000053.4(ATP7B):c.234C>T (p.Asp78=)
NM_000053.4(ATP7B):c.2355+10G>A
NM_000053.4(ATP7B):c.2355+10G>C rs899078988
NM_000053.4(ATP7B):c.2355+10G>T rs899078988
NM_000053.4(ATP7B):c.2355+11C>G
NM_000053.4(ATP7B):c.2355+16G>A
NM_000053.4(ATP7B):c.2356-12G>A
NM_000053.4(ATP7B):c.2356-12G>C
NM_000053.4(ATP7B):c.2356-16del rs1257703465
NM_000053.4(ATP7B):c.2356-18A>G
NM_000053.4(ATP7B):c.2356-20A>G
NM_000053.4(ATP7B):c.2356-9A>G rs1339073174
NM_000053.4(ATP7B):c.2358C>T (p.Ser786=) rs963396551
NM_000053.4(ATP7B):c.235A>C (p.Arg79=)
NM_000053.4(ATP7B):c.2364C>A (p.Thr788=) rs2139504987
NM_000053.4(ATP7B):c.2367A>G (p.Ser789=) rs1191351621
NM_000053.4(ATP7B):c.2385C>G (p.Leu795=)
NM_000053.4(ATP7B):c.2394C>G (p.Leu798=) rs758690020
NM_000053.4(ATP7B):c.2394C>T (p.Leu798=) rs758690020
NM_000053.4(ATP7B):c.2403A>G (p.Thr801=)
NM_000053.4(ATP7B):c.2412C>G (p.Thr804=) rs372306234
NM_000053.4(ATP7B):c.2415T>A (p.Val805=) rs768218512
NM_000053.4(ATP7B):c.2415T>C (p.Val805=)
NM_000053.4(ATP7B):c.2427T>C (p.Gly809=)
NM_000053.4(ATP7B):c.2433C>T (p.Asp811=) rs1958432499
NM_000053.4(ATP7B):c.2442C>A (p.Ile814=) rs1958431432
NM_000053.4(ATP7B):c.2445C>T (p.Ile815=)
NM_000053.4(ATP7B):c.2447+10G>A
NM_000053.4(ATP7B):c.2447+12T>G
NM_000053.4(ATP7B):c.2447+16C>T
NM_000053.4(ATP7B):c.2447+17A>G
NM_000053.4(ATP7B):c.2447+18A>G
NM_000053.4(ATP7B):c.2447+20T>C
NM_000053.4(ATP7B):c.2447+8A>T rs747586752
NM_000053.4(ATP7B):c.2447+8_2447+9insAA rs746283578
NM_000053.4(ATP7B):c.2448-12C>T
NM_000053.4(ATP7B):c.2448-17A>C
NM_000053.4(ATP7B):c.2448-37_2448-19dup
NM_000053.4(ATP7B):c.2448-4G>T rs1593697433
NM_000053.4(ATP7B):c.2451G>A (p.Glu817=)
NM_000053.4(ATP7B):c.2454G>A (p.Glu818=)
NM_000053.4(ATP7B):c.246T>C (p.Asn82=) rs2140110183
NM_000053.4(ATP7B):c.2495_2496delinsGA (p.Lys832Arg) rs2139229895
NM_000053.4(ATP7B):c.2496G>A (p.Lys832=) rs1300100185
NM_000053.4(ATP7B):c.2499G>C (p.Val833=)
NM_000053.4(ATP7B):c.24C>T (p.Ile8=)
NM_000053.4(ATP7B):c.2505T>C (p.Pro835=) rs2139229075
NM_000053.4(ATP7B):c.2517T>C (p.Phe839=) rs1192411256
NM_000053.4(ATP7B):c.2520A>T (p.Pro840=)
NM_000053.4(ATP7B):c.2526T>C (p.Asp842=)
NM_000053.4(ATP7B):c.2532A>G (p.Lys844=)
NM_000053.4(ATP7B):c.2535C>A (p.Val845=) rs1957917567
NM_000053.4(ATP7B):c.2538G>A (p.Leu846=) rs2139224830
NM_000053.4(ATP7B):c.2544C>A (p.Gly848=)
NM_000053.4(ATP7B):c.2550C>T (p.Thr850=)
NM_000053.4(ATP7B):c.2559T>C (p.Asp853=) rs2139222717
NM_000053.4(ATP7B):c.2575+10C>T
NM_000053.4(ATP7B):c.2575+13G>A
NM_000053.4(ATP7B):c.2575+17C>T
NM_000053.4(ATP7B):c.2575+20G>A
NM_000053.4(ATP7B):c.2575+8G>C
NM_000053.4(ATP7B):c.2576-10C>A
NM_000053.4(ATP7B):c.2576-11C>G
NM_000053.4(ATP7B):c.2576-11C>T
NM_000053.4(ATP7B):c.2576-13T>A
NM_000053.4(ATP7B):c.2576-13_2576-12insGGTG
NM_000053.4(ATP7B):c.2576-15C>G
NM_000053.4(ATP7B):c.2576-19G>A
NM_000053.4(ATP7B):c.2576-5T>G
NM_000053.4(ATP7B):c.2576-6G>C
NM_000053.4(ATP7B):c.2576-8A>G rs2139214419
NM_000053.4(ATP7B):c.2576-9T>C
NM_000053.4(ATP7B):c.2589A>C (p.Pro863=)
NM_000053.4(ATP7B):c.2589A>G (p.Pro863=)
NM_000053.4(ATP7B):c.258C>A (p.Ile86=)
NM_000053.4(ATP7B):c.258C>T (p.Ile86=) rs2140109665
NM_000053.4(ATP7B):c.2595T>C (p.Thr865=)
NM_000053.4(ATP7B):c.2601A>G (p.Lys867=)
NM_000053.4(ATP7B):c.2613T>C (p.Thr871=)
NM_000053.4(ATP7B):c.2613T>G (p.Thr871=) rs1593696108
NM_000053.4(ATP7B):c.2637A>C (p.Ala879=)
NM_000053.4(ATP7B):c.2649G>A (p.Val883=)
NM_000053.4(ATP7B):c.264C>T (p.Ser88=)
NM_000053.4(ATP7B):c.2652C>T (p.Leu884=) rs2139207095
NM_000053.4(ATP7B):c.2655T>C (p.Ile885=)
NM_000053.4(ATP7B):c.2664C>A (p.Thr888=)
NM_000053.4(ATP7B):c.2664C>G (p.Thr888=) rs1352578154
NM_000053.4(ATP7B):c.2682C>A (p.Thr894=) rs2139204035
NM_000053.4(ATP7B):c.2682C>T (p.Thr894=)
NM_000053.4(ATP7B):c.2691T>C (p.Ala897=)
NM_000053.4(ATP7B):c.270G>A (p.Lys90=) rs2140108643
NM_000053.4(ATP7B):c.2718T>C (p.Ala906=)
NM_000053.4(ATP7B):c.2718T>G (p.Ala906=)
NM_000053.4(ATP7B):c.2730+10A>G rs1593695636
NM_000053.4(ATP7B):c.2730+12A>G
NM_000053.4(ATP7B):c.2730+13T>A
NM_000053.4(ATP7B):c.2730+16T>C
NM_000053.4(ATP7B):c.2730+18A>G
NM_000053.4(ATP7B):c.2730+19A>G
NM_000053.4(ATP7B):c.2730+8A>G rs777812184
NM_000053.4(ATP7B):c.2731-18G>T
NM_000053.4(ATP7B):c.2731-4A>C rs2139193356
NM_000053.4(ATP7B):c.2748G>A (p.Leu916=)
NM_000053.4(ATP7B):c.2751T>C (p.Ala917=)
NM_000053.4(ATP7B):c.2754C>T (p.Asp918=) rs2139191639
NM_000053.4(ATP7B):c.2755C>A (p.Arg919=) rs121907993
NM_000053.4(ATP7B):c.2766A>G (p.Gly922=)
NM_000053.4(ATP7B):c.2766A>T (p.Gly922=)
NM_000053.4(ATP7B):c.276C>T (p.Ser92=) rs1952032120
NM_000053.4(ATP7B):c.2772T>C (p.Phe924=)
NM_000053.4(ATP7B):c.2778A>G (p.Pro926=)
NM_000053.4(ATP7B):c.2787C>A (p.Ile929=)
NM_000053.4(ATP7B):c.2787C>T (p.Ile929=) rs773527867
NM_000053.4(ATP7B):c.2790C>A (p.Ile930=) rs763953905
NM_000053.4(ATP7B):c.2796A>G (p.Ser932=) rs1957875863
NM_000053.4(ATP7B):c.2811G>A (p.Val937=)
NM_000053.4(ATP7B):c.2823A>C (p.Val941=) rs2139187924
NM_000053.4(ATP7B):c.2829T>C (p.Gly943=)
NM_000053.4(ATP7B):c.2832T>C (p.Phe944=)
NM_000053.4(ATP7B):c.2838T>C (p.Asp946=)
NM_000053.4(ATP7B):c.2847T>C (p.Val949=)
NM_000053.4(ATP7B):c.2865+10A>G
NM_000053.4(ATP7B):c.2865+11T>A
NM_000053.4(ATP7B):c.2865+14C>T
NM_000053.4(ATP7B):c.2865+18G>C
NM_000053.4(ATP7B):c.2865+19G>A
NM_000053.4(ATP7B):c.2865+8G>A
NM_000053.4(ATP7B):c.2866-10C>T
NM_000053.4(ATP7B):c.2866-11C>T
NM_000053.4(ATP7B):c.2866-15_2866-14del
NM_000053.4(ATP7B):c.2866-4T>A rs765102482
NM_000053.4(ATP7B):c.2871C>T (p.Pro957=)
NM_000053.4(ATP7B):c.2880C>T (p.His960=)
NM_000053.4(ATP7B):c.2904C>T (p.Ile968=) rs1404055283
NM_000053.4(ATP7B):c.2905C>A (p.Arg969=) rs774028495
NM_000053.4(ATP7B):c.2907G>A (p.Arg969=)
NM_000053.4(ATP7B):c.2907G>C (p.Arg969=)
NM_000053.4(ATP7B):c.2916C>T (p.Phe972=) rs2139060842
NM_000053.4(ATP7B):c.2919G>A (p.Gln973=) rs537498754
NM_000053.4(ATP7B):c.2922G>C (p.Thr974=) rs751802421
NM_000053.4(ATP7B):c.2925C>T (p.Ser975=) rs2139060122
NM_000053.4(ATP7B):c.2934G>T (p.Val978=) rs1458543232
NM_000053.4(ATP7B):c.2935C>T (p.Leu979=) rs1477822616
NM_000053.4(ATP7B):c.2940C>T (p.Cys980=)
NM_000053.4(ATP7B):c.2946C>T (p.Ala982=) rs2139058124
NM_000053.4(ATP7B):c.2952C>T (p.Pro984=) rs1957660258
NM_000053.4(ATP7B):c.2958C>T (p.Ser986=) rs2139056946
NM_000053.4(ATP7B):c.2959C>T (p.Leu987=)
NM_000053.4(ATP7B):c.2964G>A (p.Gly988=)
NM_000053.4(ATP7B):c.2967G>C (p.Leu989=)
NM_000053.4(ATP7B):c.2970C>A (p.Ala990=)
NM_000053.4(ATP7B):c.2970C>T (p.Ala990=) rs1957658070
NM_000053.4(ATP7B):c.2973G>T (p.Thr991=) rs1801246
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.2976C>G (p.Pro992=)
NM_000053.4(ATP7B):c.2976C>T (p.Pro992=)
NM_000053.4(ATP7B):c.2991G>T (p.Val997=)
NM_000053.4(ATP7B):c.2997C>G (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.3021C>A (p.Ile1007=) rs1566484621
NM_000053.4(ATP7B):c.3024C>T (p.Leu1008=) rs2139050501
NM_000053.4(ATP7B):c.3027C>A (p.Ile1009=)
NM_000053.4(ATP7B):c.3033A>G (p.Gly1011=) rs773327394
NM_000053.4(ATP7B):c.3033A>T (p.Gly1011=)
NM_000053.4(ATP7B):c.3039G>A (p.Lys1013=) rs535112212
NM_000053.4(ATP7B):c.3054G>T (p.Ala1018=)
NM_000053.4(ATP7B):c.3057C>T (p.His1019=) rs1352113797
NM_000053.4(ATP7B):c.3060+10T>C rs2139045163
NM_000053.4(ATP7B):c.3060+16G>A
NM_000053.4(ATP7B):c.3060+17G>T
NM_000053.4(ATP7B):c.3060+8T>G
NM_000053.4(ATP7B):c.3060+9G>A rs757185348
NM_000053.4(ATP7B):c.3061-14G>A
NM_000053.4(ATP7B):c.3061-20G>A
NM_000053.4(ATP7B):c.3061-4G>T
NM_000053.4(ATP7B):c.3061-8T>C
NM_000053.4(ATP7B):c.3066G>A (p.Lys1022=) rs2138960752
NM_000053.4(ATP7B):c.306T>C (p.Tyr102=) rs1342474321
NM_000053.4(ATP7B):c.3090C>T (p.Gly1030=)
NM_000053.4(ATP7B):c.3099C>T (p.Thr1033=)
NM_000053.4(ATP7B):c.3105C>A (p.Gly1035=)
NM_000053.4(ATP7B):c.3108C>A (p.Val1036=) rs2138956116
NM_000053.4(ATP7B):c.3112A>C (p.Arg1038=)
NM_000053.4(ATP7B):c.3117C>T (p.Val1039=) rs2138954925
NM_000053.4(ATP7B):c.3126G>A (p.Val1042=)
NM_000053.4(ATP7B):c.3129C>G (p.Leu1043=) rs770672596
NM_000053.4(ATP7B):c.3129C>T (p.Leu1043=) rs770672596
NM_000053.4(ATP7B):c.312A>G (p.Pro104=)
NM_000053.4(ATP7B):c.3132G>T (p.Leu1044=) rs1957514813
NM_000053.4(ATP7B):c.3138G>A (p.Gly1046=)
NM_000053.4(ATP7B):c.3153G>A (p.Leu1051=) rs1198600591
NM_000053.4(ATP7B):c.315G>A (p.Ser105=)
NM_000053.4(ATP7B):c.3162G>A (p.Arg1054=)
NM_000053.4(ATP7B):c.3174T>C (p.Ala1058=) rs2138950443
NM_000053.4(ATP7B):c.3177G>C (p.Val1059=)
NM_000053.4(ATP7B):c.3186T>C (p.Thr1062=)
NM_000053.4(ATP7B):c.3204A>G (p.Glu1068=) rs1957509125
NM_000053.4(ATP7B):c.3207C>T (p.His1069=)
NM_000053.4(ATP7B):c.3210C>T (p.Pro1070=) rs587783310
NM_000053.4(ATP7B):c.3216C>A (p.Gly1072=) rs971285419
NM_000053.4(ATP7B):c.321G>T (p.Val107=)
NM_000053.4(ATP7B):c.3222A>C (p.Ala1074=)
NM_000053.4(ATP7B):c.3225C>T (p.Val1075=)
NM_000053.4(ATP7B):c.3243+13G>C
NM_000053.4(ATP7B):c.3243+15G>C
NM_000053.4(ATP7B):c.3243+15G>T
NM_000053.4(ATP7B):c.3243+16C>A
NM_000053.4(ATP7B):c.3243+16C>T
NM_000053.4(ATP7B):c.3243+20G>A
NM_000053.4(ATP7B):c.3243+7G>A rs2138942247
NM_000053.4(ATP7B):c.3243+8G>C
NM_000053.4(ATP7B):c.3244-10A>G
NM_000053.4(ATP7B):c.3244-17T>G
NM_000053.4(ATP7B):c.3244-18C>A
NM_000053.4(ATP7B):c.3244-18C>G
NM_000053.4(ATP7B):c.3244-20CT[2]
NM_000053.4(ATP7B):c.3244-7T>C rs1455439118
NM_000053.4(ATP7B):c.3244-8C>A
NM_000053.4(ATP7B):c.3244-9C>T rs2138859863
NM_000053.4(ATP7B):c.3246A>G (p.Glu1082=)
NM_000053.4(ATP7B):c.3252A>C (p.Gly1084=) rs2138859015
NM_000053.4(ATP7B):c.3255A>G (p.Thr1085=) rs2138858853
NM_000053.4(ATP7B):c.3258G>A (p.Glu1086=)
NM_000053.4(ATP7B):c.3261C>G (p.Thr1087=) rs375820067
NM_000053.4(ATP7B):c.3261C>T (p.Thr1087=) rs375820067
NM_000053.4(ATP7B):c.3262T>C (p.Leu1088=)
NM_000053.4(ATP7B):c.3276G>A (p.Thr1092=)
NM_000053.4(ATP7B):c.3288A>C (p.Ala1096=)
NM_000053.4(ATP7B):c.3291G>T (p.Val1097=)
NM_000053.4(ATP7B):c.3294A>C (p.Pro1098=) rs2138855545
NM_000053.4(ATP7B):c.3318C>T (p.Val1106=) rs2138852740
NM_000053.4(ATP7B):c.3327G>A (p.Val1109=) rs1957394302
NM_000053.4(ATP7B):c.3336C>T (p.Ile1112=)
NM_000053.4(ATP7B):c.333G>A (p.Gln111=)
NM_000053.4(ATP7B):c.3348T>C (p.Ser1116=)
NM_000053.4(ATP7B):c.3378C>T (p.His1126=) rs2138847458
NM_000053.4(ATP7B):c.3379C>T (p.Leu1127=)
NM_000053.4(ATP7B):c.3381G>C (p.Leu1127=)
NM_000053.4(ATP7B):c.3390T>C (p.Ala1130=)
NM_000053.4(ATP7B):c.33A>G (p.Arg11=) rs753613009
NM_000053.4(ATP7B):c.3412+10G>A rs1566467094
NM_000053.4(ATP7B):c.3412+10G>C rs1566467094
NM_000053.4(ATP7B):c.3412+20C>T
NM_000053.4(ATP7B):c.3412+4T>C
NM_000053.4(ATP7B):c.3412+7C>G rs748522019
NM_000053.4(ATP7B):c.3413-10dup rs774844173
NM_000053.4(ATP7B):c.3413-11C>A
NM_000053.4(ATP7B):c.3413-11C>G
NM_000053.4(ATP7B):c.3413-12T>C
NM_000053.4(ATP7B):c.3413-13del
NM_000053.4(ATP7B):c.3413-14C>T
NM_000053.4(ATP7B):c.3413-16A>G
NM_000053.4(ATP7B):c.3413-18A>G
NM_000053.4(ATP7B):c.3413-20C>T
NM_000053.4(ATP7B):c.3413-5A>G
NM_000053.4(ATP7B):c.3413-6G>C
NM_000053.4(ATP7B):c.3413-9T>C
NM_000053.4(ATP7B):c.3423C>G (p.Pro1141=)
NM_000053.4(ATP7B):c.3429C>T (p.Thr1143=) rs2138788578
NM_000053.4(ATP7B):c.3453T>G (p.Arg1151=)
NM_000053.4(ATP7B):c.3456G>A (p.Glu1152=) rs2138785767
NM_000053.4(ATP7B):c.3492T>C (p.Asp1164=)
NM_000053.4(ATP7B):c.3504T>C (p.Ala1168=)
NM_000053.4(ATP7B):c.3534A>G (p.Thr1178=)
NM_000053.4(ATP7B):c.3541C>T (p.Leu1181=) rs780648361
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.354C>T (p.Asp118=) rs2140105389
NM_000053.4(ATP7B):c.3556+10G>T
NM_000053.4(ATP7B):c.3556+11C>T rs752712932
NM_000053.4(ATP7B):c.3556+12T>C
NM_000053.4(ATP7B):c.3556+15T>A
NM_000053.4(ATP7B):c.3556+16G>A
NM_000053.4(ATP7B):c.3556+16G>T
NM_000053.4(ATP7B):c.3556+20T>C rs765755993
NM_000053.4(ATP7B):c.3556+29TC[2] rs575346789
NM_000053.4(ATP7B):c.3556+8C>G rs2138773463
NM_000053.4(ATP7B):c.3557-12G>T
NM_000053.4(ATP7B):c.3557-16G>A
NM_000053.4(ATP7B):c.3557-18C>G
NM_000053.4(ATP7B):c.3557-18C>T
NM_000053.4(ATP7B):c.3557-19dup
NM_000053.4(ATP7B):c.3557-4C>T
NM_000053.4(ATP7B):c.3557-7G>T
NM_000053.4(ATP7B):c.3564C>T (p.Leu1188=) rs547413549
NM_000053.4(ATP7B):c.3567T>C (p.Cys1189=) rs773148537
NM_000053.4(ATP7B):c.3582C>A (p.Ile1194=) rs761183334
NM_000053.4(ATP7B):c.3594C>G (p.Val1198=)
NM_000053.4(ATP7B):c.3603G>A (p.Glu1201=) rs2138669902
NM_000053.4(ATP7B):c.3609C>T (p.Ala1203=) rs970380616
NM_000053.4(ATP7B):c.360C>T (p.Gly120=) rs1952028232
NM_000053.4(ATP7B):c.3610C>T (p.Leu1204=)
NM_000053.4(ATP7B):c.3612G>A (p.Leu1204=)
NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=) rs755324767
NM_000053.4(ATP7B):c.3621C>T (p.His1207=)
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3639T>G (p.Gly1213=)
NM_000053.4(ATP7B):c.3642G>A (p.Val1214=) rs1408214363
NM_000053.4(ATP7B):c.3648G>A (p.Val1216=)
NM_000053.4(ATP7B):c.3654G>A (p.Leu1218=) rs2138665196
NM_000053.4(ATP7B):c.3660G>A (p.Thr1220=) rs1253901147
NM_000053.4(ATP7B):c.3660G>C (p.Thr1220=)
NM_000053.4(ATP7B):c.3678A>C (p.Thr1226=)
NM_000053.4(ATP7B):c.3681C>T (p.Ala1227=) rs1292714486
NM_000053.4(ATP7B):c.3696C>A (p.Thr1232=)
NM_000053.4(ATP7B):c.3699+14A>C
NM_000053.4(ATP7B):c.3699+14A>G
NM_000053.4(ATP7B):c.3699+16G>A
NM_000053.4(ATP7B):c.3699+17T>G rs749018321
NM_000053.4(ATP7B):c.3699+18T>G
NM_000053.4(ATP7B):c.3700-3T>C
NM_000053.4(ATP7B):c.3700-7G>T
NM_000053.4(ATP7B):c.3708C>T (p.Ile1236=) rs1191860285
NM_000053.4(ATP7B):c.3720T>C (p.Phe1240=)
NM_000053.4(ATP7B):c.3726G>A (p.Glu1242=)
NM_000053.4(ATP7B):c.3729G>A (p.Val1243=)
NM_000053.4(ATP7B):c.3732G>T (p.Leu1244=)
NM_000053.4(ATP7B):c.3738G>C (p.Ser1246=) rs376369653
NM_000053.4(ATP7B):c.3741C>T (p.His1247=) rs767464491
NM_000053.4(ATP7B):c.3750C>T (p.Ala1250=)
NM_000053.4(ATP7B):c.3753G>A (p.Lys1251=)
NM_000053.4(ATP7B):c.3756C>T (p.Val1252=) rs1395442643
NM_000053.4(ATP7B):c.3795G>A (p.Val1265=)
NM_000053.4(ATP7B):c.3795G>C (p.Val1265=)
NM_000053.4(ATP7B):c.3795G>T (p.Val1265=) rs1957046861
NM_000053.4(ATP7B):c.3798G>A (p.Gly1266=) rs1048771325
NM_000053.4(ATP7B):c.3810T>C (p.Asn1270=)
NM_000053.4(ATP7B):c.3813C>T (p.Asp1271=)
NM_000053.4(ATP7B):c.3816C>T (p.Ser1272=) rs2138579304
NM_000053.4(ATP7B):c.3819G>A (p.Pro1273=)
NM_000053.4(ATP7B):c.3819G>C (p.Pro1273=)
NM_000053.4(ATP7B):c.3822C>T (p.Ala1274=)
NM_000053.4(ATP7B):c.3825G>A (p.Leu1275=)
NM_000053.4(ATP7B):c.3828C>G (p.Ala1276=)
NM_000053.4(ATP7B):c.3834A>G (p.Ala1278=)
NM_000053.4(ATP7B):c.3843T>C (p.Gly1281=)
NM_000053.4(ATP7B):c.3858C>G (p.Thr1286=) rs558520674
NM_000053.4(ATP7B):c.3870G>C (p.Val1290=) rs2138573250
NM_000053.4(ATP7B):c.3882A>G (p.Ala1294=) rs771238708
NM_000053.4(ATP7B):c.3885C>A (p.Ala1295=) rs200597654
NM_000053.4(ATP7B):c.3900C>T (p.Ile1300=)
NM_000053.4(ATP7B):c.3903+17C>G
NM_000053.4(ATP7B):c.3903+7G>A rs751397470
NM_000053.4(ATP7B):c.3903+7G>C rs751397470
NM_000053.4(ATP7B):c.3903+9G>A rs1957037692
NM_000053.4(ATP7B):c.3904-10T>C
NM_000053.4(ATP7B):c.3904-11C>T
NM_000053.4(ATP7B):c.3904-14C>T
NM_000053.4(ATP7B):c.3904-15G>A
NM_000053.4(ATP7B):c.3904-17G>A
NM_000053.4(ATP7B):c.3904-19G>A
NM_000053.4(ATP7B):c.3904-6C>T rs2138565951
NM_000053.4(ATP7B):c.3909T>C (p.Asp1303=)
NM_000053.4(ATP7B):c.3912G>A (p.Leu1304=) rs748644391
NM_000053.4(ATP7B):c.3915G>C (p.Leu1305=)
NM_000053.4(ATP7B):c.3936C>T (p.His1312=) rs1215843572
NM_000053.4(ATP7B):c.3951T>C (p.Thr1317=)
NM_000053.4(ATP7B):c.3954C>A (p.Val1318=) rs2138561910
NM_000053.4(ATP7B):c.3954C>T (p.Val1318=)
NM_000053.4(ATP7B):c.3955C>A (p.Arg1319=)
NM_000053.4(ATP7B):c.3969C>T (p.Ile1323=)
NM_000053.4(ATP7B):c.3975G>A (p.Leu1325=) rs2138559599
NM_000053.4(ATP7B):c.3978C>T (p.Val1326=) rs2138559321
NM_000053.4(ATP7B):c.3979C>T (p.Leu1327=)
NM_000053.4(ATP7B):c.3984A>G (p.Ala1328=) rs2138558760
NM_000053.4(ATP7B):c.3996C>T (p.Asn1332=) rs2138558236
NM_000053.4(ATP7B):c.3999G>C (p.Leu1333=)
NM_000053.4(ATP7B):c.4011C>A (p.Pro1337=)
NM_000053.4(ATP7B):c.4011C>T (p.Pro1337=) rs1957025823
NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=)
NM_000053.4(ATP7B):c.4021+11C>G
NM_000053.4(ATP7B):c.4021+14A>G rs2138555283
NM_000053.4(ATP7B):c.4021+15C>G
NM_000053.4(ATP7B):c.4021+7A>C
NM_000053.4(ATP7B):c.4021+7del rs2138556041
NM_000053.4(ATP7B):c.4021+8G>A
NM_000053.4(ATP7B):c.4022-10dup
NM_000053.4(ATP7B):c.4022-11T>C
NM_000053.4(ATP7B):c.4022-13C>A
NM_000053.4(ATP7B):c.4022-13C>T
NM_000053.4(ATP7B):c.4022-15T>C
NM_000053.4(ATP7B):c.4022-18G>A
NM_000053.4(ATP7B):c.4022-18G>C
NM_000053.4(ATP7B):c.4022-20G>A
NM_000053.4(ATP7B):c.4022-4C>A rs1956917991
NM_000053.4(ATP7B):c.4022-4C>G
NM_000053.4(ATP7B):c.4022-8T>C
NM_000053.4(ATP7B):c.4022-9C>A rs1956918603
NM_000053.4(ATP7B):c.4029C>T (p.Phe1343=) rs2138460901
NM_000053.4(ATP7B):c.4065C>A (p.Gly1355=) rs2138458026
NM_000053.4(ATP7B):c.4068A>G (p.Ser1356=)
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.4071G>A (p.Ala1357=)
NM_000053.4(ATP7B):c.4080A>G (p.Ala1360=) rs1956913934
NM_000053.4(ATP7B):c.4086C>G (p.Ser1362=) rs1240143006
NM_000053.4(ATP7B):c.4086C>T (p.Ser1362=)
NM_000053.4(ATP7B):c.408G>A (p.Arg136=)
NM_000053.4(ATP7B):c.4101G>A (p.Val1367=) rs2138454260
NM_000053.4(ATP7B):c.4104C>T (p.Leu1368=)
NM_000053.4(ATP7B):c.4111C>T (p.Leu1371=) rs953317531
NM_000053.4(ATP7B):c.4116G>A (p.Gln1372=)
NM_000053.4(ATP7B):c.4122G>A (p.Lys1374=) rs2138451437
NM_000053.4(ATP7B):c.4124+10C>G
NM_000053.4(ATP7B):c.4124+10C>T rs1956909478
NM_000053.4(ATP7B):c.4124+13A>G
NM_000053.4(ATP7B):c.4124+14G>A rs2138450034
NM_000053.4(ATP7B):c.4124+15G>A
NM_000053.4(ATP7B):c.4124+20G>T
NM_000053.4(ATP7B):c.4124+8C>G rs1459365269
NM_000053.4(ATP7B):c.4124+9C>T
NM_000053.4(ATP7B):c.4125-15G>A
NM_000053.4(ATP7B):c.4125-15G>C
NM_000053.4(ATP7B):c.4125-16C>T
NM_000053.4(ATP7B):c.4125-4C>A rs760766549
NM_000053.4(ATP7B):c.4125-4C>G
NM_000053.4(ATP7B):c.4125-7T>C rs2138417811
NM_000053.4(ATP7B):c.4125-9G>A rs2138417975
NM_000053.4(ATP7B):c.4140C>T (p.Asp1380=)
NM_000053.4(ATP7B):c.4141C>T (p.Leu1381=) rs1956874443
NM_000053.4(ATP7B):c.4143G>C (p.Leu1381=) rs775330670
NM_000053.4(ATP7B):c.4161G>A (p.Gln1387=)
NM_000053.4(ATP7B):c.4164G>A (p.Ala1388=) rs756826065
NM_000053.4(ATP7B):c.4164G>T (p.Ala1388=)
NM_000053.4(ATP7B):c.4167T>C (p.His1389=)
NM_000053.4(ATP7B):c.4182C>G (p.Pro1394=) rs2138410112
NM_000053.4(ATP7B):c.4182C>T (p.Pro1394=)
NM_000053.4(ATP7B):c.4185G>A (p.Leu1395=) rs368801566
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=) rs368801566
NM_000053.4(ATP7B):c.4194C>A (p.Ser1398=)
NM_000053.4(ATP7B):c.4194C>T (p.Ser1398=) rs2138407679
NM_000053.4(ATP7B):c.4200C>A (p.Val1400=) rs2138406499
NM_000053.4(ATP7B):c.4200C>G (p.Val1400=) rs2138406499
NM_000053.4(ATP7B):c.4209C>T (p.His1403=) rs1310796915
NM_000053.4(ATP7B):c.4224C>T (p.Asp1408=)
NM_000053.4(ATP7B):c.4236C>T (p.Asp1412=) rs2138401838
NM_000053.4(ATP7B):c.4239C>T (p.Ser1413=)
NM_000053.4(ATP7B):c.4248C>A (p.Ala1416=)
NM_000053.4(ATP7B):c.4254A>G (p.Pro1418=)
NM_000053.4(ATP7B):c.4263G>A (p.Gln1421=) rs779103007
NM_000053.4(ATP7B):c.4275C>T (p.Val1425=) rs2138397858
NM_000053.4(ATP7B):c.4278C>T (p.Ser1426=) rs1386613610
NM_000053.4(ATP7B):c.4284G>A (p.Val1428=)
NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=) rs747816425
NM_000053.4(ATP7B):c.4287G>C (p.Ser1429=) rs747816425
NM_000053.4(ATP7B):c.4290G>A (p.Leu1430=)
NM_000053.4(ATP7B):c.4290G>C (p.Leu1430=)
NM_000053.4(ATP7B):c.4297C>T (p.Leu1433=) rs1956862933
NM_000053.4(ATP7B):c.42C>G (p.Ala14=)
NM_000053.4(ATP7B):c.42C>T (p.Ala14=)
NM_000053.4(ATP7B):c.4305C>G (p.Ser1435=)
NM_000053.4(ATP7B):c.4314A>G (p.Pro1438=)
NM_000053.4(ATP7B):c.4318C>A (p.Arg1440=)
NM_000053.4(ATP7B):c.4319G>T (p.Arg1440Leu)
NM_000053.4(ATP7B):c.4323C>T (p.His1441=) rs1163407442
NM_000053.4(ATP7B):c.4344T>C (p.Asp1448=) rs2138388314
NM_000053.4(ATP7B):c.4347G>A (p.Gly1449=)
NM_000053.4(ATP7B):c.4371T>C (p.Asn1457=) rs1237211954
NM_000053.4(ATP7B):c.4380T>C (p.Asp1460=)
NM_000053.4(ATP7B):c.4386G>A (p.Glu1462=) rs1386711112
NM_000053.4(ATP7B):c.4389G>A (p.Gln1463=)
NM_000053.4(ATP7B):c.4392C>T (p.Tyr1464=)
NM_000053.4(ATP7B):c.441C>A (p.Leu147=)
NM_000053.4(ATP7B):c.441C>G (p.Leu147=)
NM_000053.4(ATP7B):c.441C>T (p.Leu147=)
NM_000053.4(ATP7B):c.447G>A (p.Val149=) rs776619662
NM_000053.4(ATP7B):c.459C>A (p.Thr153=) rs1009053966
NM_000053.4(ATP7B):c.462C>T (p.Cys154=) rs771654032
NM_000053.4(ATP7B):c.465G>A (p.Gln155=) rs1279878457
NM_000053.4(ATP7B):c.46C>A (p.Arg16=) rs1593892536
NM_000053.4(ATP7B):c.477C>T (p.Ser159=)
NM_000053.4(ATP7B):c.483T>C (p.Ile161=) rs2140100275
NM_000053.4(ATP7B):c.48G>T (p.Arg16=) rs2140767399
NM_000053.4(ATP7B):c.495C>A (p.Val165=)
NM_000053.4(ATP7B):c.495C>T (p.Val165=) rs1374536208
NM_000053.4(ATP7B):c.496C>A (p.Arg166=)
NM_000053.4(ATP7B):c.502C>T (p.Leu168=) rs2140099534
NM_000053.4(ATP7B):c.51+13C>G
NM_000053.4(ATP7B):c.51+14C>T rs1566687529
NM_000053.4(ATP7B):c.51+16C>T
NM_000053.4(ATP7B):c.51+17C>T
NM_000053.4(ATP7B):c.51+20G>A
NM_000053.4(ATP7B):c.510A>C (p.Gly170=) rs2140099250
NM_000053.4(ATP7B):c.52-13C>A
NM_000053.4(ATP7B):c.52-13del
NM_000053.4(ATP7B):c.52-15T>A
NM_000053.4(ATP7B):c.52-5T>G
NM_000053.4(ATP7B):c.52-7T>G rs2140117560
NM_000053.4(ATP7B):c.52-8del
NM_000053.4(ATP7B):c.528C>T (p.Val176=) rs2140098632
NM_000053.4(ATP7B):c.534C>A (p.Leu178=) rs1952018579
NM_000053.4(ATP7B):c.540C>T (p.Asn180=) rs537892210
NM_000053.4(ATP7B):c.546G>A (p.Glu182=)
NM_000053.4(ATP7B):c.552C>T (p.Val184=)
NM_000053.4(ATP7B):c.561T>C (p.Tyr187=) rs1162659137
NM_000053.4(ATP7B):c.564G>A (p.Gln188=)
NM_000053.4(ATP7B):c.567T>G (p.Pro189=)
NM_000053.4(ATP7B):c.570T>C (p.Tyr190=) rs2140096468
NM_000053.4(ATP7B):c.579G>A (p.Gln193=)
NM_000053.4(ATP7B):c.57A>G (p.Leu19=)
NM_000053.4(ATP7B):c.582C>G (p.Pro194=) rs780671732
NM_000053.4(ATP7B):c.600T>C (p.His200=) rs2140095470
NM_000053.4(ATP7B):c.60T>G (p.Ser20=)
NM_000053.4(ATP7B):c.633G>A (p.Lys211=)
NM_000053.4(ATP7B):c.649T>C (p.Leu217=)
NM_000053.4(ATP7B):c.660A>G (p.Gly220=)
NM_000053.4(ATP7B):c.663A>C (p.Pro221=)
NM_000053.4(ATP7B):c.672T>C (p.Ile224=)
NM_000053.4(ATP7B):c.678G>A (p.Arg226=) rs2140093004
NM_000053.4(ATP7B):c.678G>T (p.Arg226=)
NM_000053.4(ATP7B):c.690T>C (p.Thr230=) rs1033565003
NM_000053.4(ATP7B):c.693C>T (p.Asn231=) rs2140092691
NM_000053.4(ATP7B):c.69T>G (p.Ser23=)
NM_000053.4(ATP7B):c.744C>T (p.Thr248=) rs2140091512
NM_000053.4(ATP7B):c.768G>A (p.Val256=) rs2140090759
NM_000053.4(ATP7B):c.771C>G (p.Val257=)
NM_000053.4(ATP7B):c.774C>T (p.Thr258=) rs1201589034
NM_000053.4(ATP7B):c.781C>T (p.Leu261=) rs1593789718
NM_000053.4(ATP7B):c.783G>A (p.Leu261=)
NM_000053.4(ATP7B):c.789A>T (p.Ile263=)
NM_000053.4(ATP7B):c.78C>T (p.Thr26=)
NM_000053.4(ATP7B):c.816C>T (p.Val272=) rs2140088946
NM_000053.4(ATP7B):c.819G>A (p.Leu273=)
NM_000053.4(ATP7B):c.825T>C (p.Ile275=)
NM_000053.4(ATP7B):c.828A>G (p.Glu276=) rs747012041
NM_000053.4(ATP7B):c.834T>C (p.Asn278=)
NM_000053.4(ATP7B):c.840C>G (p.Gly280=)
NM_000053.4(ATP7B):c.847C>T (p.Leu283=) rs2140087571
NM_000053.4(ATP7B):c.852G>C (p.Gly284=)
NM_000053.4(ATP7B):c.852G>T (p.Gly284=)
NM_000053.4(ATP7B):c.861T>C (p.Ser287=) rs1951999850
NM_000053.4(ATP7B):c.867A>G (p.Gln289=) rs1194991204
NM_000053.4(ATP7B):c.873C>T (p.Ser291=) rs1951998921
NM_000053.4(ATP7B):c.874T>C (p.Leu292=) rs752378510
NM_000053.4(ATP7B):c.876G>A (p.Leu292=) rs2140086171
NM_000053.4(ATP7B):c.879G>A (p.Glu293=) rs1593789326
NM_000053.4(ATP7B):c.897A>G (p.Val299=)
NM_000053.4(ATP7B):c.900G>A (p.Lys300=) rs761251108
NM_000053.4(ATP7B):c.903T>C (p.Tyr301=)
NM_000053.4(ATP7B):c.906C>T (p.Asp302=)
NM_000053.4(ATP7B):c.921C>T (p.Ser307=) rs761888673
NM_000053.4(ATP7B):c.945C>T (p.Ile315=) rs776855440
NM_000053.4(ATP7B):c.960T>C (p.Pro320=)
NM_000053.4(ATP7B):c.963G>A (p.Gly321=)
NM_000053.4(ATP7B):c.96A>G (p.Ala32=)
NM_000053.4(ATP7B):c.993C>G (p.Ala331=)
NM_000053.4(ATP7B):c.9G>A (p.Glu3=) rs587783322

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