ClinVar Miner

List of variants in gene ATP7B

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Gene type:
ClinVar version:
Total variants: 896
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HGVS dbSNP
ATP7B, 1-BP DEL, 2337C
ATP7B, 1-BP DEL, 2511A
ATP7B, 1-BP INS, NT2487
ATP7B, 15-BP DEL, NT-441
ATP7B, 3-BP DEL, 3892GTC
ATP7B, 7-BP DEL, NT2010
NC_000013.11:g.(?_51934746)_(51950409_?)del
NC_000013.11:g.(?_51937256)_(51939213_?)del
NC_000013.11:g.(?_51944089)_(51946498_?)del
NC_000013.11:g.(?_51973915)_(51975188_?)del
NC_000013.11:g.(?_51973925)_(51975178_?)del
NC_000013.11:g.51937680del
NC_000013.11:g.52011733G>C rs145371060
NC_000013.11:g.52011771C>T rs1593894001
NC_000013.11:g.52011857G>A rs9563084
NM_000053.3(ATP7B):c.-388C>T rs913869716
NM_000053.3(ATP7B):c.-436_-422del15 rs1484840087
NM_000053.3(ATP7B):c.-441_-427del15 rs879255499
NM_000053.3(ATP7B):c.-676A>G rs1021025464
NM_000053.3(ATP7B):c.-676_-659dup rs1555304816
NM_000053.3(ATP7B):c.3809A>G rs121907990
NM_000053.3(ATP7B):c.[1924G>C];[3809A>G]
NM_000053.3(ATP7B):c.[2950C>G];[3809A>G]
NM_000053.3(ATP7B):c.[3443T>C;3526G>A]
NM_000053.4(ATP7B):c.*1005G>A
NM_000053.4(ATP7B):c.*1005G>T rs563813110
NM_000053.4(ATP7B):c.*1009G>A rs79747858
NM_000053.4(ATP7B):c.*1014A>G rs540878290
NM_000053.4(ATP7B):c.*1019A>G
NM_000053.4(ATP7B):c.*1036C>T rs533209080
NM_000053.4(ATP7B):c.*1076A>T rs564499990
NM_000053.4(ATP7B):c.*1095C>T rs886050300
NM_000053.4(ATP7B):c.*1104C>A
NM_000053.4(ATP7B):c.*111G>A rs546262455
NM_000053.4(ATP7B):c.*111G>T
NM_000053.4(ATP7B):c.*1124C>G
NM_000053.4(ATP7B):c.*1128G>A
NM_000053.4(ATP7B):c.*1170C>G
NM_000053.4(ATP7B):c.*1172G>A rs1051332
NM_000053.4(ATP7B):c.*1182C>T rs79490882
NM_000053.4(ATP7B):c.*1206G>A
NM_000053.4(ATP7B):c.*1240T>G
NM_000053.4(ATP7B):c.*1265A>G rs762692870
NM_000053.4(ATP7B):c.*1286G>A
NM_000053.4(ATP7B):c.*1385G>A rs41292780
NM_000053.4(ATP7B):c.*1409A>C rs537012324
NM_000053.4(ATP7B):c.*1423T>C
NM_000053.4(ATP7B):c.*148C>T rs111901413
NM_000053.4(ATP7B):c.*1491A>G rs139053981
NM_000053.4(ATP7B):c.*1493T>C rs886050299
NM_000053.4(ATP7B):c.*1499A>T rs567043686
NM_000053.4(ATP7B):c.*149G>A
NM_000053.4(ATP7B):c.*1558T>A rs886050298
NM_000053.4(ATP7B):c.*1592T>C rs886050297
NM_000053.4(ATP7B):c.*15C>T rs73498144
NM_000053.4(ATP7B):c.*1618G>A
NM_000053.4(ATP7B):c.*1659A>G rs113688195
NM_000053.4(ATP7B):c.*16G>A rs193922100
NM_000053.4(ATP7B):c.*1708A>G rs17076111
NM_000053.4(ATP7B):c.*1717G>T rs77770386
NM_000053.4(ATP7B):c.*1744C>T
NM_000053.4(ATP7B):c.*1746C>T
NM_000053.4(ATP7B):c.*1756T>C rs886050296
NM_000053.4(ATP7B):c.*1773C>G
NM_000053.4(ATP7B):c.*1782C>G rs928169
NM_000053.4(ATP7B):c.*1782del rs886050295
NM_000053.4(ATP7B):c.*1805C>T rs182439700
NM_000053.4(ATP7B):c.*1901G>A rs886050294
NM_000053.4(ATP7B):c.*190C>A rs115420019
NM_000053.4(ATP7B):c.*190C>T rs115420019
NM_000053.4(ATP7B):c.*221C>A rs886050305
NM_000053.4(ATP7B):c.*23G>T rs201108784
NM_000053.4(ATP7B):c.*34G>A
NM_000053.4(ATP7B):c.*355G>A
NM_000053.4(ATP7B):c.*421C>T rs556584760
NM_000053.4(ATP7B):c.*510G>T rs886050304
NM_000053.4(ATP7B):c.*668C>A
NM_000053.4(ATP7B):c.*767T>A
NM_000053.4(ATP7B):c.*781T>C rs886050303
NM_000053.4(ATP7B):c.*786T>C rs886050302
NM_000053.4(ATP7B):c.*833A>T
NM_000053.4(ATP7B):c.*843C>T
NM_000053.4(ATP7B):c.*851T>C rs553202651
NM_000053.4(ATP7B):c.*870C>T rs532782366
NM_000053.4(ATP7B):c.*920G>A
NM_000053.4(ATP7B):c.*963C>T rs371788814
NM_000053.4(ATP7B):c.*994_*997del rs886050301
NM_000053.4(ATP7B):c.-54G>T rs115564351
NM_000053.4(ATP7B):c.-73G>T rs886050309
NM_000053.4(ATP7B):c.-74C>A rs193922101
NM_000053.4(ATP7B):c.-74C>T rs193922101
NM_000053.4(ATP7B):c.-91C>T
NM_000053.4(ATP7B):c.-97C>T rs886050310
NM_000053.4(ATP7B):c.1015A>C (p.Arg339=) rs768698497
NM_000053.4(ATP7B):c.1023C>T (p.Ser341=) rs1593788631
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter) rs1057516516
NM_000053.4(ATP7B):c.1041C>T (p.Gly347=) rs1453094974
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu)
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
NM_000053.4(ATP7B):c.1066G>A (p.Gly356Ser) rs1593788340
NM_000053.4(ATP7B):c.1073del (p.Cys358fs)
NM_000053.4(ATP7B):c.1104G>A (p.Met368Ile)
NM_000053.4(ATP7B):c.1115C>T (p.Ser372Phe)
NM_000053.4(ATP7B):c.111dup (p.Ala38fs) rs1555296939
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466
NM_000053.4(ATP7B):c.1123C>T (p.His375Tyr) rs774226215
NM_000053.4(ATP7B):c.1127C>T (p.Ser376Phe)
NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val) rs775754066
NM_000053.4(ATP7B):c.1145C>G (p.Ser382Cys) rs774102085
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.1155A>C (p.Glu385Asp) rs1593787847
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs) rs1593787789
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val)
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856
NM_000053.4(ATP7B):c.1173G>A (p.Ser391=) rs200431213
NM_000053.4(ATP7B):c.1182G>C (p.Leu394Phe)
NM_000053.4(ATP7B):c.1185C>T (p.Ala395=) rs764551529
NM_000053.4(ATP7B):c.1191G>T (p.Gly397=) rs561017302
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr)
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) rs199807461
NM_000053.4(ATP7B):c.1215C>T (p.Pro405=) rs201020290
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr)
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer) rs1555296015
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=) rs772843652
NM_000053.4(ATP7B):c.1231G>A (p.Glu411Lys) rs886050308
NM_000053.4(ATP7B):c.1247C>T (p.Ala416Val)
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1282T>G (p.Ser428Ala)
NM_000053.4(ATP7B):c.1285+287G>A rs1951922
NM_000053.4(ATP7B):c.1285+2T>A rs759749626
NM_000053.4(ATP7B):c.1285+5G>T rs370579582
NM_000053.4(ATP7B):c.1286-256T>C rs3825527
NM_000053.4(ATP7B):c.1286-92A>G rs74087029
NM_000053.4(ATP7B):c.1286-93A>C rs3742288
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg) rs145173864
NM_000053.4(ATP7B):c.1297A>G (p.Thr433Ala)
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
NM_000053.4(ATP7B):c.1298C>T (p.Thr433Ile)
NM_000053.4(ATP7B):c.130T>A (p.Tyr44Asn) rs1566605396
NM_000053.4(ATP7B):c.1315C>T (p.His439Tyr) rs1593775498
NM_000053.4(ATP7B):c.1318A>G (p.Ser440Gly)
NM_000053.4(ATP7B):c.1336G>C (p.Val446Leu) rs587783298
NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs) rs1057517141
NM_000053.4(ATP7B):c.133G>A (p.Glu45Lys) rs777504965
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs) rs1057517444
NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser)
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter) rs1057516305
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) rs1060499593
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu) rs183044693
NM_000053.4(ATP7B):c.1389_1405del (p.Gly464fs) rs1593775055
NM_000053.4(ATP7B):c.1392dup (p.Arg465fs) rs1555295017
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=) rs529527733
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu) rs771789585
NM_000053.4(ATP7B):c.1419C>T (p.Asp473=)
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704
NM_000053.4(ATP7B):c.1427C>T (p.Ala476Val)
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.1461G>A (p.Pro487=) rs372068316
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser) rs1566580253
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter) rs1057516418
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr)
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter) rs1449610384
NM_000053.4(ATP7B):c.1543+13C>T rs200171850
NM_000053.4(ATP7B):c.1543+14G>A rs770362811
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.1544-12T>C
NM_000053.4(ATP7B):c.1544-2A>C rs1555294398
NM_000053.4(ATP7B):c.1544-53A>C rs2147363
NM_000053.4(ATP7B):c.1548T>C (p.Val516=) rs1593766763
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) rs192957846
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter) rs773385516
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys) rs375071383
NM_000053.4(ATP7B):c.15G>A (p.Glu5=) rs751634415
NM_000053.4(ATP7B):c.1605_1609dup (p.Ile537fs) rs886043238
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly) rs777096464
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter) rs996419100
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=) rs138962570
NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser) rs778475094
NM_000053.4(ATP7B):c.1700_1707+16del rs1555294199
NM_000053.4(ATP7B):c.1707+10G>A rs1411137744
NM_000053.4(ATP7B):c.1707+29dup rs113829533
NM_000053.4(ATP7B):c.1707+2dup rs781531824
NM_000053.4(ATP7B):c.1707+98G>A rs77703666
NM_000053.4(ATP7B):c.1707+9T>C rs114449708
NM_000053.4(ATP7B):c.1707+9TG[3] rs797045401
NM_000053.4(ATP7B):c.1708-14A>G rs751612293
NM_000053.4(ATP7B):c.1708-1G>A rs137853280
NM_000053.4(ATP7B):c.1708-1G>C rs137853280
NM_000053.4(ATP7B):c.1708-25_1719del rs1566560096
NM_000053.4(ATP7B):c.1708-2A>G rs1057517024
NM_000053.4(ATP7B):c.1708-3C>G rs1593752864
NM_000053.4(ATP7B):c.1708-5T>G rs770829226
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1726G>A (p.Ala576Thr)
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544
NM_000053.4(ATP7B):c.1739del (p.His580fs) rs1555293357
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.174dup (p.Thr59fs) rs1057516561
NM_000053.4(ATP7B):c.1760C>T (p.Thr587Met) rs757716093
NM_000053.4(ATP7B):c.1762A>C (p.Arg588=) rs1566559391
NM_000053.4(ATP7B):c.1771G>A (p.Gly591Ser) rs1566559224
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) rs780327716
NM_000053.4(ATP7B):c.1813dup (p.Leu605fs)
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs) rs1057516940
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672
NM_000053.4(ATP7B):c.1834A>G (p.Ile612Val) rs886050307
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=) rs370476756
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys) rs376565432
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609
NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr)
NM_000053.4(ATP7B):c.1869+20A>G rs566255910
NM_000053.4(ATP7B):c.1870-217A>G rs9316562
NM_000053.4(ATP7B):c.1870-65G>A rs9535809
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=) rs756958229
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1878C>T (p.Gly626=) rs587783300
NM_000053.4(ATP7B):c.1883A>G (p.His628Arg) rs528763888
NM_000053.4(ATP7B):c.1887T>G (p.Ala629=) rs1555292354
NM_000053.4(ATP7B):c.1907C>A (p.Pro636His) rs1593739354
NM_000053.4(ATP7B):c.1911C>T (p.Asn637=) rs770640457
NM_000053.4(ATP7B):c.1912G>A (p.Ala638Thr) rs886038218
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.1944G>A (p.Lys648=) rs1302960255
NM_000053.4(ATP7B):c.1945C>T (p.Gln649Ter)
NM_000053.4(ATP7B):c.1946+153T>C rs74087020
NM_000053.4(ATP7B):c.1946+6T>C rs751287778
NM_000053.4(ATP7B):c.1947-15G>T rs1555291926
NM_000053.4(ATP7B):c.1947-19T>A rs1593733949
NM_000053.4(ATP7B):c.1947-4C>T rs74904335
NM_000053.4(ATP7B):c.1947-5T>C
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1965G>T (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter) rs1474837260
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2009A>G (p.Tyr670Cys)
NM_000053.4(ATP7B):c.2009_2010AT[3] (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.2009_2010AT[4] (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=) rs764441090
NM_000053.4(ATP7B):c.2035del (p.His679fs) rs786204764
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter) rs1555291848
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val) rs1555291836
NM_000053.4(ATP7B):c.2057_2059ACA[1] (p.Asn687del) rs770107276
NM_000053.4(ATP7B):c.2067T>C (p.Ile689=) rs1274947728
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu) rs1555291809
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801
NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr) rs1212479289
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2094_2096CTT[1] (p.Phe700del) rs1555291787
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs) rs1555291784
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2121+7A>T rs1200174831
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901
NM_000053.4(ATP7B):c.2122-8T>G rs193922102
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=) rs779988850
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg) rs1394999756
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756
NM_000053.4(ATP7B):c.213_214del (p.Val73fs) rs1445951068
NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His) rs1555291272
NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter) rs751202110
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110
NM_000053.4(ATP7B):c.2145del (p.Phe714_Tyr715insTer) rs1593726648
NM_000053.4(ATP7B):c.2146G>A (p.Val716Ile) rs886038219
NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter) rs1085307057
NM_000053.4(ATP7B):c.2152G>C (p.Ala718Pro) rs1555291265
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) rs1057516380
NM_000053.4(ATP7B):c.2157del (p.Ala718_Tyr719insTer)
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2166G>A (p.Leu722=) rs587783302
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.2175G>T (p.Arg725Ser)
NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys) rs1202766392
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277
NM_000053.4(ATP7B):c.2191G>A (p.Val731Met) rs762746959
NM_000053.4(ATP7B):c.2202C>A (p.Val734=) rs1593726245
NM_000053.4(ATP7B):c.2208C>A (p.Ala736=) rs1593726238
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs) rs1555291207
NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter) rs1180133690
NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter)
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)
NM_000053.4(ATP7B):c.222G>C (p.Lys74Asn) rs587776496
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.2231_2232CT[1] (p.Leu745fs) rs1555291195
NM_000053.4(ATP7B):c.2236G>A (p.Val746Ile)
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser) rs1555291181
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val) rs769927137
NM_000053.4(ATP7B):c.2268G>A (p.Ala756=) rs755387536
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) rs200642204
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) rs750477816
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg) rs121907997
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) rs770787421
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu) rs1057516844
NM_000053.4(ATP7B):c.2304del (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2314G>A (p.Val772Met) rs554893410
NM_000053.4(ATP7B):c.2325C>A (p.Ala775=) rs755218710
NM_000053.4(ATP7B):c.2326C>G (p.Leu776Val) rs1217463955
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) rs28942074
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly) rs751798708
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283
NM_000053.4(ATP7B):c.2337G>A (p.Trp779Ter) rs137853282
NM_000053.4(ATP7B):c.2338C>G (p.Leu780Val) rs1593725352
NM_000053.4(ATP7B):c.2351C>T (p.Ala784Val) rs1566532164
NM_000053.4(ATP7B):c.2354A>G (p.Lys785Arg) rs1555291085
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2355+4A>G rs776572343
NM_000053.4(ATP7B):c.2356-16del
NM_000053.4(ATP7B):c.2356-1G>A rs1555290925
NM_000053.4(ATP7B):c.2356-1G>C rs1555290925
NM_000053.4(ATP7B):c.2356-217G>A rs752569
NM_000053.4(ATP7B):c.2356-296A>G rs752570
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)
NM_000053.4(ATP7B):c.2366C>T (p.Ser789Leu)
NM_000053.4(ATP7B):c.2375T>C (p.Leu792Pro) rs1593722897
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe) rs1555290883
NM_000053.4(ATP7B):c.2394C>G (p.Leu798=) rs758690020
NM_000053.4(ATP7B):c.241T>A (p.Ser81Thr)
NM_000053.4(ATP7B):c.2426del (p.Gly809fs)
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter) rs770020484
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs) rs1555290810
NM_000053.4(ATP7B):c.2447+1G>T
NM_000053.4(ATP7B):c.2447+1del rs1057516732
NM_000053.4(ATP7B):c.2447+289G>T rs3825526
NM_000053.4(ATP7B):c.2447+2T>G rs1555290800
NM_000053.4(ATP7B):c.2447+8A>G rs747586752
NM_000053.4(ATP7B):c.2447+8_2447+9insAA rs746283578
NM_000053.4(ATP7B):c.2448-11G>A rs200450017
NM_000053.4(ATP7B):c.2448-25G>A rs9526811
NM_000053.4(ATP7B):c.2448-4G>T rs1593697433
NM_000053.4(ATP7B):c.245A>G (p.Asn82Ser) rs1555296815
NM_000053.4(ATP7B):c.2469G>C (p.Glu823Asp) rs886050306
NM_000053.4(ATP7B):c.2475G>A (p.Val825=) rs373528664
NM_000053.4(ATP7B):c.2478_2479delinsT (p.Gln826fs) rs1555288808
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) rs539585071
NM_000053.4(ATP7B):c.2480G>C (p.Arg827Pro) rs368589213
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly) rs1566503575
NM_000053.4(ATP7B):c.2489T>G (p.Ile830Ser) rs1593697228
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=) rs759213674
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472
NM_000053.4(ATP7B):c.2510dup (p.Phe839fs) rs964976261
NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu)
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) rs786204643
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2575+1G>C rs766149114
NM_000053.4(ATP7B):c.2575+5G>C rs551030054
NM_000053.4(ATP7B):c.2576-2A>G rs757265256
NM_000053.4(ATP7B):c.2576-6G>A rs755819821
NM_000053.4(ATP7B):c.2583C>T (p.Ala861=) rs565717791
NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly) rs1555288669
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2613T>G (p.Thr871=) rs1593696108
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro) rs376355660
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=) rs896503662
NM_000053.4(ATP7B):c.2623G>A (p.Gly875Arg) rs587783304
NM_000053.4(ATP7B):c.2659G>A (p.Ala887Thr) rs768479687
NM_000053.4(ATP7B):c.265A>G (p.Met89Val)
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2666A>G (p.His889Arg)
NM_000053.4(ATP7B):c.2667C>T (p.His889=) rs373539367
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2672G>A (p.Gly891Asp) rs483352684
NM_000053.4(ATP7B):c.2672G>C (p.Gly891Ala) rs483352684
NM_000053.4(ATP7B):c.2673C>G (p.Gly891=) rs587783305
NM_000053.4(ATP7B):c.2679C>T (p.Asp893=) rs755739707
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.268_270del (p.Lys90del) rs751970838
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter)
NM_000053.4(ATP7B):c.2701A>G (p.Lys901Glu) rs1593695760
NM_000053.4(ATP7B):c.2708T>G (p.Val903Gly) rs1566500467
NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp) rs923227127
NM_000053.4(ATP7B):c.2730+10A>G rs1593695636
NM_000053.4(ATP7B):c.2730+1G>A rs1057516425
NM_000053.4(ATP7B):c.2730+9G>A rs1292956745
NM_000053.4(ATP7B):c.2731-2A>G rs367956522
NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter) rs1555288479
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2756G>A (p.Arg919Gln)
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=)
NM_000053.4(ATP7B):c.2781del (p.Phe927fs)
NM_000053.4(ATP7B):c.2784_2786CAT[2] (p.Ile930del)
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.4(ATP7B):c.2787C>G (p.Ile929Met) rs773527867
NM_000053.4(ATP7B):c.2790C>A (p.Ile930=) rs763953905
NM_000053.4(ATP7B):c.2792T>C (p.Met931Thr)
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.2806T>G (p.Leu936Val) rs367855110
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs) rs1555288385
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689
NM_000053.4(ATP7B):c.283C>T (p.Gln95Ter) rs756929892
NM_000053.4(ATP7B):c.2845_2847GTT[1] (p.Val950del) rs1424494639
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser)
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=) rs762782389
NM_000053.4(ATP7B):c.2862T>C (p.Phe954=) rs972405411
NM_000053.4(ATP7B):c.2865+1G>A rs587783306
NM_000053.4(ATP7B):c.2866-105G>A rs41292784
NM_000053.4(ATP7B):c.2866-13G>C rs7325983
NM_000053.4(ATP7B):c.2866-21C>T rs763362019
NM_000053.4(ATP7B):c.2866-2A>G rs1377418826
NM_000053.4(ATP7B):c.2866-2del rs1593681941
NM_000053.4(ATP7B):c.2866-90G>T rs2296246
NM_000053.4(ATP7B):c.2901del (p.Ile968fs) rs1064796054
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2945C>T (p.Ala982Val) rs1487547257
NM_000053.4(ATP7B):c.2952del (p.Cys985fs)
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg) rs199623434
NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu) rs1057518867
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246
NM_000053.4(ATP7B):c.2975C>A (p.Pro992His) rs201038679
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721
NM_000053.4(ATP7B):c.2979G>A (p.Thr993=) rs200656411
NM_000053.4(ATP7B):c.2979G>C (p.Thr993=) rs200656411
NM_000053.4(ATP7B):c.2980G>T (p.Ala994Ser) rs1555287372
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532
NM_000053.4(ATP7B):c.2985C>T (p.Val995=) rs758641148
NM_000053.4(ATP7B):c.2989G>A (p.Val997Met) rs1566485134
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=) rs373102009
NM_000053.4(ATP7B):c.2997C>G (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=)
NM_000053.4(ATP7B):c.2997dup (p.Gly1000fs)
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) rs369620062
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888
NM_000053.4(ATP7B):c.3021C>A (p.Ile1007=) rs1566484621
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs) rs1555287300
NM_000053.4(ATP7B):c.3042C>T (p.Pro1014=) rs1438628867
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3051G>A (p.Met1017Ile) rs755851188
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=) rs193922105
NM_000053.4(ATP7B):c.3057C>T (p.His1019=) rs1352113797
NM_000053.4(ATP7B):c.3060+16G>T rs76163470
NM_000053.4(ATP7B):c.3060+5G>T
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3061-2A>G
NM_000053.4(ATP7B):c.3061-549_3081del
NM_000053.4(ATP7B):c.3061A>G (p.Ile1021Val) rs776490710
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742
NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala) rs1416453532
NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg) rs1555286633
NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His) rs1593672840
NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs) rs1331370011
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile) rs1555286628
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)
NM_000053.4(ATP7B):c.3097A>G (p.Thr1033Ala) rs1555286620
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3101dup (p.His1034fs)
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs) rs886043423
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=)
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=) rs1192564410
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro) rs1412025509
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) rs1441316018
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) rs762031690
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.314C>T (p.Ser105Leu) rs753236073
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs) rs1555286522
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515
NM_000053.4(ATP7B):c.3169C>T (p.Leu1057=) rs587783308
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178
NM_000053.4(ATP7B):c.3185C>T (p.Thr1062Ile) rs763053197
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309
NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=)
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3208C>T (p.Pro1070Ser) rs1423701688
NM_000053.4(ATP7B):c.3210C>T (p.Pro1070=) rs587783310
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=) rs748003525
NM_000053.4(ATP7B):c.3215G>A (p.Gly1072Asp) rs1397311718
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) rs1206016866
NM_000053.4(ATP7B):c.322T>C (p.Cys108Arg) rs1566603189
NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe) rs1064797072
NM_000053.4(ATP7B):c.3243+173_3243+175del rs879462650
NM_000053.4(ATP7B):c.3243+183_3243+184insGCC rs879917441
NM_000053.4(ATP7B):c.3243+1G>A rs748819198
NM_000053.4(ATP7B):c.3243+290G>A rs4943044
NM_000053.4(ATP7B):c.3243+2T>C rs1593671769
NM_000053.4(ATP7B):c.3243+4C>T
NM_000053.4(ATP7B):c.3243+5G>A rs373193482
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801
NM_000053.4(ATP7B):c.3261C>A (p.Thr1087=) rs375820067
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly)
NM_000053.4(ATP7B):c.3280_3281insGTAT (p.Phe1094fs) rs1566469148
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) rs1555285891
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) rs761632029
NM_000053.4(ATP7B):c.3298T>A (p.Cys1100Ser) rs1566468882
NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs) rs1566468816
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs) rs1566468784
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter) rs774221179
NM_000053.4(ATP7B):c.3320_3322del (p.Ser1107del)
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) rs1555285830
NM_000053.4(ATP7B):c.3360G>A (p.Leu1120=) rs1555285820
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu) rs146623472
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3376C>T (p.His1126Tyr)
NM_000053.4(ATP7B):c.3381G>A (p.Leu1127=) rs587783311
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152
NM_000053.4(ATP7B):c.3399T>C (p.Leu1133=) rs587783312
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3412+292A>G rs3783240
NM_000053.4(ATP7B):c.3412+9_3412+10insCA rs772615378
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563
NM_000053.4(ATP7B):c.3428C>A (p.Thr1143Asn) rs587783313
NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del) rs1555285393
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met) rs1213481140
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3451C>G (p.Arg1151Gly) rs755554442
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820
NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val) rs770428835
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr) rs777879359
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser) rs777879359
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr) rs1555285311
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
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.3550A>G (p.Ile1184Val) rs1057519121
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) rs748924063
NM_000053.4(ATP7B):c.3556+1G>A rs184388696
NM_000053.4(ATP7B):c.3556+1G>T rs184388696
NM_000053.4(ATP7B):c.3556+20T>G rs765755993
NM_000053.4(ATP7B):c.3556+29TC[2] rs575346789
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547
NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg) rs786204547
NM_000053.4(ATP7B):c.3557-31G>T rs74085875
NM_000053.4(ATP7B):c.3557-3C>T rs1593652724
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3557-7G>A rs368128448
NM_000053.4(ATP7B):c.3557-8C>T rs765668065
NM_000053.4(ATP7B):c.3557-95A>G rs9526808
NM_000053.4(ATP7B):c.356dup (p.Met119fs)
NM_000053.4(ATP7B):c.3571A>G (p.Met1191Val) rs1566452960
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224
NM_000053.4(ATP7B):c.3588dup (p.Ala1197fs)
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) rs786204658
NM_000053.4(ATP7B):c.3608C>T (p.Ala1203Val) rs1593652348
NM_000053.4(ATP7B):c.3618G>A (p.Val1206=) rs754144261
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met) rs370713752
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)
NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser)
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val) rs1555284582
NM_000053.4(ATP7B):c.363C>T (p.Phe121=)
NM_000053.4(ATP7B):c.3644A>G (p.Asp1215Gly) rs1555284575
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu) rs1486594906
NM_000053.4(ATP7B):c.3662_3664del (p.Gly1221del) rs886042519
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115
NM_000053.4(ATP7B):c.3680C>A (p.Ala1227Asp) rs1566451314
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)
NM_000053.4(ATP7B):c.3693delinsTCTGGTACATTAACATTA (p.Thr1232_Gln1233insLeuValHisTer)
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639
NM_000053.4(ATP7B):c.3695C>T (p.Thr1232Ile)
NM_000053.4(ATP7B):c.3695_3697del (p.Thr1232_Gln1233delinsLys)
NM_000053.4(ATP7B):c.3696C>T (p.Thr1232=) rs1593651836
NM_000053.4(ATP7B):c.3699+299G>A rs1924608
NM_000053.4(ATP7B):c.3699+9C>T rs1593651766
NM_000053.4(ATP7B):c.3700-1G>A rs1555284021
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe) rs193922108
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) rs1555283994
NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala) rs587783316
NM_000053.4(ATP7B):c.3733C>T (p.Pro1245Ser) rs587783316
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491
NM_000053.4(ATP7B):c.3741C>T (p.His1247=) rs767464491
NM_000053.4(ATP7B):c.3741_3742insCA (p.Lys1248fs) rs1593646131
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly) rs372042739
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992
NM_000053.4(ATP7B):c.3797G>A (p.Gly1266Glu) rs1566444586
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala) rs1555283916
NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) rs1057516740
NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) rs1555283900
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520
NM_000053.4(ATP7B):c.3821C>T (p.Ala1274Val) rs1555283882
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.383del (p.Gly128fs) rs797045083
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp) rs755202606
NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val)
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs)
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del) rs1555283826
NM_000053.4(ATP7B):c.3858C>G (p.Thr1286=) rs558520674
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro)
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155
NM_000053.4(ATP7B):c.3874A>G (p.Ile1292Val)
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) rs1340942427
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly) rs1593645393
NM_000053.4(ATP7B):c.3888C>T (p.Asp1296=) rs772616533
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs) rs1057517384
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.3892G>A (p.Val1298Ile)
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.3895del (p.Ile1300fs)
NM_000053.4(ATP7B):c.389C>G (p.Ala130Gly)
NM_000053.4(ATP7B):c.3903+6C>T rs2282057
NM_000053.4(ATP7B):c.3904-2A>G rs1057517233
NM_000053.4(ATP7B):c.3904-9C>T rs760375559
NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe) rs1555283732
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) rs377144951
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs) rs1057516227
NM_000053.4(ATP7B):c.3948del (p.Thr1317fs) rs1057516228
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)
NM_000053.4(ATP7B):c.3971A>C (p.Asn1324Thr) rs760285767
NM_000053.4(ATP7B):c.3974del (p.Leu1325fs)
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) rs1566441447
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741
NM_000053.4(ATP7B):c.3999G>A (p.Leu1333=) rs186435141
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)
NM_000053.4(ATP7B):c.399del (p.Trp133fs) rs1345848733
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407
NM_000053.4(ATP7B):c.4006del (p.Ile1336fs) rs1555283564
NM_000053.4(ATP7B):c.4021+107G>A rs144518699
NM_000053.4(ATP7B):c.4021+34G>A rs373250873
NM_000053.4(ATP7B):c.4021+3A>G rs565970531
NM_000053.4(ATP7B):c.4021+50G>C rs9535795
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) rs587783317
NM_000053.4(ATP7B):c.4022-158G>C rs74085867
NM_000053.4(ATP7B):c.4022-19C>T rs369736734
NM_000053.4(ATP7B):c.4022-2A>C rs1555282816
NM_000053.4(ATP7B):c.4022-329C>T rs2282058
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) rs779494870
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) rs564541246
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp) rs1305262063
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val) rs1305262063
NM_000053.4(ATP7B):c.4066T>C (p.Ser1356Pro) rs1555282748
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) rs557577836
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile) rs759551693
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
NM_000053.4(ATP7B):c.4090G>C (p.Val1364Leu) rs1566434432
NM_000053.4(ATP7B):c.4090_4091GT[1] (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.4102C>G (p.Leu1368Val) rs768467658
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=) rs779979628
NM_000053.4(ATP7B):c.4111C>T (p.Leu1371=) rs953317531
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)
NM_000053.4(ATP7B):c.4112T>G (p.Leu1371Arg)
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter) rs755584106
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
NM_000053.4(ATP7B):c.4119C>G (p.Leu1373=) rs1593637201
NM_000053.4(ATP7B):c.4124+278T>A rs74404993
NM_000053.4(ATP7B):c.4124+8C>G rs1459365269
NM_000053.4(ATP7B):c.4124+8C>T rs1459365269
NM_000053.4(ATP7B):c.4124G>C (p.Cys1375Ser) rs1365425480
NM_000053.4(ATP7B):c.4125-19T>C rs1228043161
NM_000053.4(ATP7B):c.4125-1G>A rs1293549383
NM_000053.4(ATP7B):c.4125-1G>C
NM_000053.4(ATP7B):c.4125-2A>G rs1555282347
NM_000053.4(ATP7B):c.4127A>C (p.Tyr1376Ser) rs1555282338
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs) rs1555282316
NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val) rs371458882
NM_000053.4(ATP7B):c.4166A>G (p.His1389Arg)
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.4195del (p.Gln1399fs) rs886041336
NM_000053.4(ATP7B):c.41C>A (p.Ala14Asp) rs587783319
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=) rs767721448
NM_000053.4(ATP7B):c.4221T>A (p.Asp1407Glu) rs587783320
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624
NM_000053.4(ATP7B):c.4242del (p.Arg1415fs) rs1057517191
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys)
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) rs1555282191
NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=) rs747816425
NM_000053.4(ATP7B):c.4290del (p.Ser1431fs) rs1555282185
NM_000053.4(ATP7B):c.4296C>T (p.Ser1432=)
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000053.4(ATP7B):c.4315T>C (p.Ser1439Pro)
NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp) rs543334965
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln)
NM_000053.4(ATP7B):c.4325del (p.Ser1442fs) rs774744497
NM_000053.4(ATP7B):c.432_434del (p.Val145del) rs1555296674
NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val)
NM_000053.4(ATP7B):c.4336dup (p.Asp1446fs) rs1555282097
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs) rs1345677703
NM_000053.4(ATP7B):c.433G>T (p.Val145Phe) rs183365083
NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro) rs377492122
NM_000053.4(ATP7B):c.4379A>G (p.Asp1460Gly) rs1593633844
NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter) rs1392030070
NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg) rs202131204
NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=) rs199859839
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp) rs373762572
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656
NM_000053.4(ATP7B):c.46C>A (p.Arg16=) rs1593892536
NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr) rs531199827
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp) rs755476114
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
NM_000053.4(ATP7B):c.51+110G>A rs61958788
NM_000053.4(ATP7B):c.51+13C>T rs770273498
NM_000053.4(ATP7B):c.51+15C>G rs781757171
NM_000053.4(ATP7B):c.51+4A>T rs369488210
NM_000053.4(ATP7B):c.52-1G>T rs1057517351
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525del (p.Val176fs)
NM_000053.4(ATP7B):c.525dup (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.532_535del (p.Leu178fs)
NM_000053.4(ATP7B):c.540C>T (p.Asn180=) rs537892210
NM_000053.4(ATP7B):c.549C>T (p.Ala183=) rs772619981
NM_000053.4(ATP7B):c.550G>A (p.Val184Ile) rs199634511
NM_000053.4(ATP7B):c.561T>C (p.Tyr187=)
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353
NM_000053.4(ATP7B):c.609C>T (p.Asp203=)
NM_000053.4(ATP7B):c.618T>A (p.Phe206Leu) rs764353593
NM_000053.4(ATP7B):c.618T>C (p.Phe206=) rs764353593
NM_000053.4(ATP7B):c.623C>T (p.Ala208Val)
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter) rs1555296472
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val) rs200866801
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp) rs749626601
NM_000053.4(ATP7B):c.697_698del (p.Lys233fs) rs1023530194
NM_000053.4(ATP7B):c.6T>C (p.Pro2=) rs1302879168
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter) rs1555296414
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239
NM_000053.4(ATP7B):c.747G>A (p.Leu249=) rs554554415
NM_000053.4(ATP7B):c.764_775del (p.His255_Thr258del) rs1417723997
NM_000053.4(ATP7B):c.769G>T (p.Val257Phe)
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.781C>T (p.Leu261=) rs1593789718
NM_000053.4(ATP7B):c.802_808del (p.Cys268fs) rs1566598496
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)
NM_000053.4(ATP7B):c.80G>A (p.Arg27His)
NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg) rs1349622044
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.813C>T (p.Cys271=) rs572147914
NM_000053.4(ATP7B):c.814G>A (p.Val272Ile) rs771501259
NM_000053.4(ATP7B):c.835A>G (p.Ile279Val)
NM_000053.4(ATP7B):c.839G>A (p.Gly280Asp)
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter) rs1555296356
NM_000053.4(ATP7B):c.845del (p.Leu282fs) rs193922111
NM_000053.4(ATP7B):c.854T>G (p.Val285Gly) rs1411865806
NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter)
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999
NM_000053.4(ATP7B):c.870G>C (p.Val290=) rs587783321
NM_000053.4(ATP7B):c.879G>A (p.Glu293=) rs1593789326
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter) rs398123137
NM_000053.4(ATP7B):c.918_931del (p.Ser307fs)
NM_000053.4(ATP7B):c.925G>C (p.Val309Leu)
NM_000053.4(ATP7B):c.941C>T (p.Ala314Val) rs768949522
NM_000053.4(ATP7B):c.956del (p.Pro319fs)
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) rs911589273
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522
NM_000053.4(ATP7B):c.990A>G (p.Gly330=) rs754086671
NM_000053.4(ATP7B):c.993C>T (p.Ala331=) rs377294197
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter) rs761084829
NM_000053.4(ATP7B):c.999G>T (p.Gly333=) rs371930715
NM_000053.4(ATP7B):c.9G>A (p.Glu3=) rs587783322
NM_001004127.2(ALG11):c.-674A>G rs28362532
NM_001243182.1(ATP7B):c.-116G>A rs965523214
NM_001243182.1(ATP7B):c.-117delinsATCGGC rs1555304632
NM_001243182.1(ATP7B):c.-119del rs587783297
NM_001243182.1(ATP7B):c.-120_-119insCGCCG rs1593893277
NM_001243182.1(ATP7B):c.-122G>A rs886050311
NM_001243182.1(ATP7B):c.-122_-118dup rs1555304635
NM_001243182.1(ATP7B):c.-124_-123insTGCCG rs766338038
NM_001243182.1(ATP7B):c.-126_-125insTGCGC rs1322135702
NM_001243182.1(ATP7B):c.-127_-126insGCGCG rs1555304648

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