ClinVar Miner

List of variants studied for Wilson disease

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 2447
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.1544-53A>C rs2147363 0.69725
NM_000053.4(ATP7B):c.-75C>A rs2277448 0.57328
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000053.4(ATP7B):c.4021+50G>C rs9535795 0.56559
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_000053.4(ATP7B):c.*1782C>G rs928169 0.55377
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000053.4(ATP7B):c.2448-25G>A rs9526811 0.35419
NM_000053.4(ATP7B):c.*1172G>A rs1051332 0.35272
NM_000053.4(ATP7B):c.1870-65G>A rs9535809 0.18440
NM_000053.4(ATP7B):c.2866-13G>C rs7325983 0.10642
NM_001406511.1(ATP7B):c.-55+275T>C rs28362532 0.09610
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246 0.04852
NM_000053.4(ATP7B):c.51+110G>A rs61958788 0.04081
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247 0.04023
NM_000053.4(ATP7B):c.*1182C>T rs79490882 0.03607
NM_000053.4(ATP7B):c.*1708A>G rs17076111 0.03588
NM_000053.4(ATP7B):c.*190C>A rs115420019 0.03241
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000053.4(ATP7B):c.*1717G>T rs77770386 0.02475
NM_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265 0.01110
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.*1385G>A rs41292780 0.00987
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_000053.4(ATP7B):c.-54G>T rs115564351 0.00634
NM_000053.4(ATP7B):c.3557-31G>T rs74085875 0.00585
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982 0.00499
NM_000053.4(ATP7B):c.*15C>T rs73498144 0.00493
NM_000053.4(ATP7B):c.*1491A>G rs139053981 0.00461
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888 0.00430
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_000053.4(ATP7B):c.*1659A>G rs113688195 0.00384
NM_000053.4(ATP7B):c.*148C>T rs111901413 0.00362
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_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.2972C>T (p.Thr991Met) rs41292782 0.00155
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.*1005G>T rs563813110 0.00140
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.*16G>A rs193922100 0.00105
NM_000053.4(ATP7B):c.51+31G>A rs116654819 0.00105
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_000053.4(ATP7B):c.*1499A>T rs567043686 0.00095
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204 0.00086
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu) rs183044693 0.00080
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.*1036C>T rs533209080 0.00070
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) rs199807461 0.00066
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522 0.00064
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.*833A>T rs536279126 0.00055
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000053.4(ATP7B):c.*1014A>G rs540878290 0.00046
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_001004127.2(ALG11):c.-23C>T rs201534348 0.00045
NM_000053.4(ATP7B):c.*1240T>G rs145132668 0.00041
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) rs192957846 0.00041
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn) rs199875471 0.00041
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000053.4(ATP7B):c.*870C>T rs532782366 0.00038
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000053.4(ATP7B):c.2730G>A (p.Lys910=) rs80145681 0.00037
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.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815 0.00029
NM_000053.4(ATP7B):c.*1746C>T rs746211484 0.00028
NM_000053.4(ATP7B):c.*1076A>T rs564499990 0.00027
NM_000053.4(ATP7B):c.*1206G>A rs565920162 0.00026
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu) rs146623472 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg) rs145173864 0.00025
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_000053.4(ATP7B):c.*1409A>C rs537012324 0.00023
NM_000053.4(ATP7B):c.*1773C>G rs956624725 0.00023
NM_000053.4(ATP7B):c.*963C>T rs371788814 0.00023
NM_000053.4(ATP7B):c.*1265A>G rs762692870 0.00022
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_000053.4(ATP7B):c.*1558T>A rs886050298 0.00020
NM_000053.4(ATP7B):c.*920G>A rs550451051 0.00019
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_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860 0.00016
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly) rs777096464 0.00016
NM_000053.4(ATP7B):c.3354C>G (p.Arg1118=) rs1462687233 0.00016
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) rs557577836 0.00016
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656 0.00016
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969 0.00015
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823 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.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529 0.00014
NM_000053.4(ATP7B):c.*1901G>A rs886050294 0.00013
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.2755C>G (p.Arg919Gly) rs121907993 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_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771 0.00012
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr) rs370203816 0.00011
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=) rs370476756 0.00011
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00011
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407 0.00011
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=) rs193922105 0.00010
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738 0.00010
NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr) rs745866259 0.00010
NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val) rs371458882 0.00010
NM_000053.4(ATP7B):c.*1124C>G rs987141372 0.00009
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292 0.00009
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=) rs764441090 0.00009
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283 0.00009
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=) rs373102009 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 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.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=) rs199859839 0.00009
NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr) rs531199827 0.00009
NM_000053.4(ATP7B):c.610A>G (p.Met204Val) rs200605351 0.00009
NM_000053.4(ATP7B):c.*1128G>A rs1026086231 0.00008
NM_000053.4(ATP7B):c.2323G>T (p.Ala775Ser) rs535217574 0.00008
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000053.4(ATP7B):c.2805G>A (p.Thr935=) rs141872590 0.00008
NM_000053.3(ATP7B):c.-122G>A rs886050311 0.00007
NM_000053.4(ATP7B):c.1153G>A (p.Glu385Lys) rs772069735 0.00007
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu) rs771789585 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.2806T>G (p.Leu936Val) rs367855110 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_000053.4(ATP7B):c.-389A>G rs566608922 0.00006
NM_000053.4(ATP7B):c.-676A>G rs1021025464 0.00006
NM_000053.4(ATP7B):c.-74C>T rs193922101 0.00006
NM_000053.4(ATP7B):c.1145C>G (p.Ser382Cys) rs774102085 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.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277 0.00006
NM_000053.4(ATP7B):c.2191G>A (p.Val731Met) rs762746959 0.00006
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) rs539585071 0.00006
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 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.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 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.4271A>G (p.Tyr1424Cys) rs372435824 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.589C>T (p.Leu197Phe) rs745909234 0.00006
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val) rs200866801 0.00006
NM_000053.4(ATP7B):c.774C>G (p.Thr258=) rs1201589034 0.00006
NM_000053.4(ATP7B):c.*1805C>T rs182439700 0.00005
NM_000053.4(ATP7B):c.1050G>A (p.Pro350=) rs372191499 0.00005
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000 0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 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.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000053.4(ATP7B):c.3376C>T (p.His1126Tyr) rs373698024 0.00005
NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp) rs543334965 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_000053.4(ATP7B):c.814G>A (p.Val272Ile) rs771501259 0.00005
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.1258A>G (p.Met420Val) rs1390574533 0.00004
NM_000053.4(ATP7B):c.133G>A (p.Glu45Lys) rs777504965 0.00004
NM_000053.4(ATP7B):c.1605G>A (p.Glu535=) rs762567255 0.00004
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter) rs766906034 0.00004
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys) rs376565432 0.00004
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser) rs760713333 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.3332G>A (p.Gly1111Asp) rs182659444 0.00004
NM_000053.4(ATP7B):c.3412+18C>A rs769198765 0.00004
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106 0.00004
NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met) rs370713752 0.00004
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val) rs769949264 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_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000053.4(ATP7B):c.*421C>T rs556584760 0.00003
NM_000053.4(ATP7B):c.*786T>C rs886050302 0.00003
NM_000053.4(ATP7B):c.111T>A (p.Phe37Leu) rs748698125 0.00003
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr) rs578173224 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.1760C>T (p.Thr587Met) rs757716093 0.00003
NM_000053.4(ATP7B):c.1873A>G (p.Ile625Val) rs778963465 0.00003
NM_000053.4(ATP7B):c.2046G>C (p.Met682Ile) rs370398602 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.2300C>T (p.Pro767Leu) rs776668666 0.00003
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile) rs541408630 0.00003
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) rs772383075 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.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 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.3106G>A (p.Val1036Ile) rs761147984 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000053.4(ATP7B):c.314C>T (p.Ser105Leu) rs753236073 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.3426G>C (p.Gln1142His) rs778749563 0.00003
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820 0.00003
NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val) rs770428835 0.00003
NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr) rs777879359 0.00003
NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg) rs786204547 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.3589G>A (p.Ala1197Thr) rs758025913 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.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520 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.550G>A (p.Val184Ile) rs199634511 0.00003
NM_000053.4(ATP7B):c.665T>C (p.Ile222Thr) rs373476328 0.00003
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000053.4(ATP7B):c.946G>A (p.Glu316Lys) rs768818151 0.00003
NM_000053.4(ATP7B):c.993C>T (p.Ala331=) rs377294197 0.00003
NM_000053.4(ATP7B):c.*111G>A rs546262455 0.00002
NM_000053.4(ATP7B):c.*1286G>A rs904728739 0.00002
NM_000053.4(ATP7B):c.*149G>A rs529606445 0.00002
NM_000053.4(ATP7B):c.*355G>A rs1047705237 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.1297A>G (p.Thr433Ala) rs532864884 0.00002
NM_000053.4(ATP7B):c.1298C>T (p.Thr433Ile) rs763788226 0.00002
NM_000053.4(ATP7B):c.1436C>A (p.Pro479Gln) rs983827093 0.00002
NM_000053.4(ATP7B):c.1449A>G (p.Arg483=) rs540586756 0.00002
NM_000053.4(ATP7B):c.1460C>T (p.Pro487Leu) rs767312670 0.00002
NM_000053.4(ATP7B):c.1677C>T (p.Tyr559=) rs142187604 0.00002
NM_000053.4(ATP7B):c.1726G>A (p.Ala576Thr) rs747638528 0.00002
NM_000053.4(ATP7B):c.1815T>G (p.Leu605=) rs774401223 0.00002
NM_000053.4(ATP7B):c.1820A>G (p.Lys607Arg) rs775080615 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.2072G>T (p.Gly691Val) rs1555291801 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.2219C>T (p.Ala740Val) rs1406386204 0.00002
NM_000053.4(ATP7B):c.227T>C (p.Ile76Thr) rs747911411 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.2575+5G>C rs551030054 0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689 0.00002
NM_000053.4(ATP7B):c.2979G>A (p.Thr993=) rs200656411 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 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.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334 0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639 0.00002
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly) rs372042739 0.00002
NM_000053.4(ATP7B):c.3845T>C (p.Val1282Ala) rs754148852 0.00002
NM_000053.4(ATP7B):c.3852T>C (p.Ile1284=) rs757139219 0.00002
NM_000053.4(ATP7B):c.389C>G (p.Ala130Gly) rs753045361 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.4045G>C (p.Val1349Leu) rs374924611 0.00002
NM_000053.4(ATP7B):c.4175T>C (p.Met1392Thr) rs199821965 0.00002
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624 0.00002
NM_000053.4(ATP7B):c.443G>A (p.Arg148Gln) rs571199682 0.00002
NM_000053.4(ATP7B):c.543A>G (p.Gln181=) rs759386572 0.00002
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_000053.4(ATP7B):c.597C>T (p.Asp199=) rs1158398635 0.00002
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp) rs749626601 0.00002
NM_000053.4(ATP7B):c.78C>A (p.Thr26=) rs1227368750 0.00002
NM_000053.4(ATP7B):c.866A>C (p.Gln289Pro) rs751053970 0.00002
NM_000053.4(ATP7B):c.*1095C>T rs886050300 0.00001
NM_000053.4(ATP7B):c.*1592T>C rs886050297 0.00001
NM_000053.4(ATP7B):c.*1618G>A rs555136047 0.00001
NM_000053.4(ATP7B):c.*34G>A rs763552108 0.00001
NM_000053.4(ATP7B):c.*668C>A rs1956830486 0.00001
NM_000053.4(ATP7B):c.*767T>A rs933966441 0.00001
NM_000053.4(ATP7B):c.*843C>T rs566445276 0.00001
NM_000053.4(ATP7B):c.*851T>C rs553202651 0.00001
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu) rs201855906 0.00001
NM_000053.4(ATP7B):c.1062C>A (p.Val354=) rs371971772 0.00001
NM_000053.4(ATP7B):c.1082C>T (p.Thr361Ile) rs1243293542 0.00001
NM_000053.4(ATP7B):c.1101C>T (p.Gly367=) rs759359836 0.00001
NM_000053.4(ATP7B):c.1127C>T (p.Ser376Phe) rs762995412 0.00001
NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val) rs775754066 0.00001
NM_000053.4(ATP7B):c.113C>A (p.Ala38Asp) rs935963471 0.00001
NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser) rs766943890 0.00001
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val) rs770903362 0.00001
NM_000053.4(ATP7B):c.1173G>A (p.Ser391=) rs200431213 0.00001
NM_000053.4(ATP7B):c.1182G>C (p.Leu394Phe) rs201874048 0.00001
NM_000053.4(ATP7B):c.1185C>T (p.Ala395=) rs764551529 0.00001
NM_000053.4(ATP7B):c.1187A>G (p.Glu396Gly) rs752745159 0.00001
NM_000053.4(ATP7B):c.1200A>G (p.Thr400=) rs1413846557 0.00001
NM_000053.4(ATP7B):c.1285+2T>A rs759749626 0.00001
NM_000053.4(ATP7B):c.1286-7A>G rs759215571 0.00001
NM_000053.4(ATP7B):c.1318A>G (p.Ser440Gly) rs759000301 0.00001
NM_000053.4(ATP7B):c.1324G>T (p.Gly442Trp) rs776135837 0.00001
NM_000053.4(ATP7B):c.1326G>T (p.Gly442=) rs1371066375 0.00001
NM_000053.4(ATP7B):c.1407C>A (p.Asn469Lys) rs772709899 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.157C>T (p.Pro53Ser) rs751956663 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.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.1708-5T>G rs770829226 0.00001
NM_000053.4(ATP7B):c.1746dup (p.Glu583fs) rs1566559605 0.00001
NM_000053.4(ATP7B):c.1749G>A (p.Glu583=) rs781688887 0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402 0.00001
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) rs780327716 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.1846C>T (p.Arg616Trp) rs374172791 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.1857C>A (p.Ile619=) rs765501756 0.00001
NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr) rs377670877 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.1946+6T>C rs751287778 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.1969A>C (p.Ser657Arg) rs372436901 0.00001
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter) rs1474837260 0.00001
NM_000053.4(ATP7B):c.2009A>G (p.Tyr670Cys) rs767305042 0.00001
NM_000053.4(ATP7B):c.2020C>A (p.Pro674Thr) rs1214560420 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.2095T>A (p.Phe699Ile) rs749972036 0.00001
NM_000053.4(ATP7B):c.20A>G (p.Gln7Arg) rs764340318 0.00001
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr) rs767218895 0.00001
NM_000053.4(ATP7B):c.2114T>G (p.Phe705Cys) rs756971846 0.00001
NM_000053.4(ATP7B):c.2121+7A>T rs1200174831 0.00001
NM_000053.4(ATP7B):c.2122-1G>C rs1319653818 0.00001
NM_000053.4(ATP7B):c.2122-8T>C rs193922102 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2138A>G (p.Tyr713Cys) rs756883878 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.2222dup (p.Tyr741Ter) rs1180133690 0.00001
NM_000053.4(ATP7B):c.2236G>A (p.Val746Ile) rs746531706 0.00001
NM_000053.4(ATP7B):c.2244G>C (p.Leu748=) rs1461573235 0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val) rs769927137 0.00001
NM_000053.4(ATP7B):c.2268G>A (p.Ala756=) rs755387536 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2320A>G (p.Ile774Val) rs778579276 0.00001
NM_000053.4(ATP7B):c.2322T>C (p.Ile774=) rs755299474 0.00001
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly) rs751798708 0.00001
NM_000053.4(ATP7B):c.2346C>T (p.His782=) rs1441980053 0.00001
NM_000053.4(ATP7B):c.2355+4A>G rs776572343 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.2383C>T (p.Leu795Phe) rs751710854 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+1G>A rs1958431105 0.00001
NM_000053.4(ATP7B):c.2447+9T>C rs777986992 0.00001
NM_000053.4(ATP7B):c.2448G>T (p.Arg816Ser) rs1957924589 0.00001
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=) rs755237462 0.00001
NM_000053.4(ATP7B):c.2485G>A (p.Asp829Asn) rs181388674 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.2512A>G (p.Lys838Glu) rs748113748 0.00001
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr) rs1017756733 0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894 0.00001
NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter) rs780292767 0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392 0.00001
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) rs786204643 0.00001
NM_000053.4(ATP7B):c.2551A>G (p.Met851Val) rs758360345 0.00001
NM_000053.4(ATP7B):c.2568C>T (p.Leu856=) rs1459783348 0.00001
NM_000053.4(ATP7B):c.2575+1G>C rs766149114 0.00001
NM_000053.4(ATP7B):c.2575+4A>G rs761060032 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.2606G>A (p.Gly869Glu) rs775553302 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 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.2659G>A (p.Ala887Thr) rs768479687 0.00001
NM_000053.4(ATP7B):c.265A>G (p.Met89Val) rs372516400 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.2715G>C (p.Glu905Asp) rs923227127 0.00001
NM_000053.4(ATP7B):c.2730+4A>G rs562091841 0.00001
NM_000053.4(ATP7B):c.2730+9G>A rs1292956745 0.00001
NM_000053.4(ATP7B):c.2756G>A (p.Arg919Gln) rs574579593 0.00001
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn) rs1230241288 0.00001
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410 0.00001
NM_000053.4(ATP7B):c.2807T>A (p.Leu936Ter) rs776002066 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000053.4(ATP7B):c.2835C>T (p.Ile945=) rs761169879 0.00001
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser) rs767877891 0.00001
NM_000053.4(ATP7B):c.2862T>C (p.Phe954=) rs972405411 0.00001
NM_000053.4(ATP7B):c.2865+1G>A rs587783306 0.00001
NM_000053.4(ATP7B):c.2866-2A>C rs1377418826 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.2922G>A (p.Thr974=) rs751802421 0.00001
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr) rs778163447 0.00001
NM_000053.4(ATP7B):c.2945C>T (p.Ala982Val) rs1487547257 0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104 0.00001
NM_000053.4(ATP7B):c.2964G>T (p.Gly988=) rs761340503 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.2985C>T (p.Val995=) rs758641148 0.00001
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884 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.3051G>A (p.Met1017Ile) rs755851188 0.00001
NM_000053.4(ATP7B):c.3060+5G>T rs1353373400 0.00001
NM_000053.4(ATP7B):c.3061A>G (p.Ile1021Val) rs776490710 0.00001
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs) rs886043423 0.00001
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser) rs750891085 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.3128T>C (p.Leu1043Pro) rs1412025509 0.00001
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val) rs1395504465 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.3170T>C (p.Leu1057Pro) rs373601229 0.00001
NM_000053.4(ATP7B):c.3183G>T (p.Gly1061=) rs994398327 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3208C>T (p.Pro1070Ser) rs1423701688 0.00001
NM_000053.4(ATP7B):c.3216C>T (p.Gly1072=) rs971285419 0.00001
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) rs1206016866 0.00001
NM_000053.4(ATP7B):c.3243+17G>A rs201536688 0.00001
NM_000053.4(ATP7B):c.3243+1G>A rs748819198 0.00001
NM_000053.4(ATP7B):c.3243+4C>T rs779783859 0.00001
NM_000053.4(ATP7B):c.3244-5C>T rs747387270 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.3280T>C (p.Phe1094Leu) rs1397083296 0.00001
NM_000053.4(ATP7B):c.3282C>G (p.Phe1094Leu) rs1957397703 0.00001
NM_000053.4(ATP7B):c.3291G>A (p.Val1097=) rs766632973 0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) rs761632029 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter) rs774221179 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.3436G>A (p.Val1146Met) rs1213481140 0.00001
NM_000053.4(ATP7B):c.3452G>C (p.Arg1151Pro) rs377297166 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.3550A>G (p.Ile1184Val) rs1057519121 0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) rs755817220 0.00001
NM_000053.4(ATP7B):c.3556+1G>A rs184388696 0.00001
NM_000053.4(ATP7B):c.3556+20T>G rs765755993 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3557-8C>T rs765668065 0.00001
NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val) rs745679410 0.00001
NM_000053.4(ATP7B):c.3591T>C (p.Ala1197=) rs1349863798 0.00001
NM_000053.4(ATP7B):c.35A>T (p.Glu12Val) rs374944498 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.3637G>A (p.Gly1213Ser) rs745918596 0.00001
NM_000053.4(ATP7B):c.363C>T (p.Phe121=) rs370199412 0.00001
NM_000053.4(ATP7B):c.3695C>T (p.Thr1232Ile) rs1345433491 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.3700G>T (p.Val1234Phe) rs193922108 0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199 0.00001
NM_000053.4(ATP7B):c.372C>A (p.Ser124Arg) rs1489384071 0.00001
NM_000053.4(ATP7B):c.3738G>A (p.Ser1246=) rs376369653 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_000053.4(ATP7B):c.3766C>T (p.Gln1256Ter) rs1957048901 0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000053.4(ATP7B):c.3787G>A (p.Ala1263Thr) rs781514805 0.00001
NM_000053.4(ATP7B):c.3789C>T (p.Ala1263=) rs948094111 0.00001
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp) rs755202606 0.00001
NM_000053.4(ATP7B):c.3858C>T (p.Thr1286=) rs558520674 0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155 0.00001
NM_000053.4(ATP7B):c.3864G>A (p.Thr1288=) rs764702485 0.00001
NM_000053.4(ATP7B):c.3874A>G (p.Ile1292Val) rs200718740 0.00001
NM_000053.4(ATP7B):c.3876C>T (p.Ile1292=) rs978231751 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.3892G>A (p.Val1298Ile) rs753044473 0.00001
NM_000053.4(ATP7B):c.3904-9C>T rs760375559 0.00001
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) rs377144951 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.3959G>C (p.Arg1320Thr) rs548512104 0.00001
NM_000053.4(ATP7B):c.3964C>T (p.Arg1322Cys) rs534984209 0.00001
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741 0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter) rs1033235740 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.4022G>A (p.Gly1341Asp) rs779494870 0.00001
NM_000053.4(ATP7B):c.4030A>C (p.Met1344Leu) rs947156425 0.00001
NM_000053.4(ATP7B):c.4038C>T (p.Ile1346=) rs200582826 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp) rs1305262063 0.00001
NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val) rs1956914257 0.00001
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile) rs759551693 0.00001
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys) rs776848753 0.00001
NM_000053.4(ATP7B):c.4092G>T (p.Val1364=) rs771057142 0.00001
NM_000053.4(ATP7B):c.4102C>G (p.Leu1368Val) rs768467658 0.00001
NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=) rs779979628 0.00001
NM_000053.4(ATP7B):c.4114C>G (p.Gln1372Glu) rs755584106 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.4150dup (p.Tyr1384fs) rs1555282316 0.00001
NM_000053.4(ATP7B):c.4166A>G (p.His1389Arg) rs1170033995 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.4288C>A (p.Leu1430Met) rs899484304 0.00001
NM_000053.4(ATP7B):c.4295C>T (p.Ser1432Phe) rs375692175 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.4319G>A (p.Arg1440Gln) rs201483366 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.4361T>C (p.Leu1454Pro) rs377492122 0.00001
NM_000053.4(ATP7B):c.4391A>C (p.Tyr1464Ser) rs770175421 0.00001
NM_000053.4(ATP7B):c.444G>A (p.Arg148=) rs370903117 0.00001
NM_000053.4(ATP7B):c.44del (p.Ser15fs) rs1192728612 0.00001
NM_000053.4(ATP7B):c.459C>T (p.Thr153=) rs1009053966 0.00001
NM_000053.4(ATP7B):c.470G>T (p.Cys157Phe) rs551275663 0.00001
NM_000053.4(ATP7B):c.471T>C (p.Cys157=) rs748497024 0.00001
NM_000053.4(ATP7B):c.497G>A (p.Arg166Gln) rs150490315 0.00001
NM_000053.4(ATP7B):c.51+13C>T rs770273498 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 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.52-1G>T rs1057517351 0.00001
NM_000053.4(ATP7B):c.52-5T>C rs762228338 0.00001
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296 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.623C>T (p.Ala208Val) rs754738204 0.00001
NM_000053.4(ATP7B):c.671T>C (p.Ile224Thr) rs994646747 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.769G>T (p.Val257Phe) rs373242731 0.00001
NM_000053.4(ATP7B):c.80G>A (p.Arg27His) rs371345946 0.00001
NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg) rs1349622044 0.00001
NM_000053.4(ATP7B):c.829G>C (p.Glu277Gln) rs777846245 0.00001
NM_000053.4(ATP7B):c.909T>G (p.Pro303=) rs1341159981 0.00001
NM_000053.4(ATP7B):c.911C>T (p.Ser304Phe) rs571080835 0.00001
NM_000053.4(ATP7B):c.925G>C (p.Val309Leu) rs551158302 0.00001
NM_000053.4(ATP7B):c.950C>A (p.Ala317Glu) rs746932888 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.968T>C (p.Phe323Ser) rs1186805034 0.00001
NM_000053.4(ATP7B):c.990A>G (p.Gly330=) rs754086671 0.00001
NM_000053.4(ATP7B):c.994G>A (p.Glu332Lys) rs761084829 0.00001
GRCh37/hg19 13q14.3(chr13:52548050-52549324)
NC_000013.10:g.(52549305_52585422)_(52585631_?)del
NC_000013.10:g.(?_51484213)_(52602726_?)dup
NC_000013.10:g.(?_52508892)_(52585473_?)del
NC_000013.10:g.(?_52511412)_(52513329_?)del
NC_000013.10:g.(?_52511432)_(52514936_?)del
NC_000013.10:g.(?_52516512)_(52516700_?)del
NC_000013.10:g.(?_52520410)_(52524545_?)del
NC_000013.10:g.(?_52524279)_(52524855_?)del
NC_000013.10:g.(?_52531632)_(52532700_?)del
NC_000013.10:g.(?_52538988)_(52585473_?)dup
NC_000013.10:g.(?_52542570)_(52549314_?)del
NC_000013.10:g.(?_52544712)_(52545071_?)del
NC_000013.10:g.(?_52548990)_(52552030_?)del
NC_000013.10:g.(?_52548990)_52552030del
NC_000013.10:g.(?_52585403)_(52602726_?)del
NC_000013.11:g.(?_51934736)_(52028610_?)del
NC_000013.11:g.(?_51934746)_(51950409_?)del
NC_000013.11:g.(?_51934746)_(52029658_?)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.(?_52011277)_(52029658_?)del
NC_000013.11:g.52011797C>T rs2140784828
NM_000053.3(ATP7B):c.-122_-118dup rs1555304635
NM_000053.3(ATP7B):c.-127CG[2][1] rs1555304648
NM_000053.3(ATP7B):c.-127_-126GC[2][1] rs1322135702
NM_000053.3(ATP7B):c.-128_-127insGCCGT rs766338038
NM_000053.3(ATP7B):c.-676_-659dup rs1555304816
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 rs563813110
NM_000053.4(ATP7B):c.*1019A>G rs1956813969
NM_000053.4(ATP7B):c.*1104C>A rs779530224
NM_000053.4(ATP7B):c.*111G>T rs546262455
NM_000053.4(ATP7B):c.*1170C>G rs555405546
NM_000053.4(ATP7B):c.*1423T>C rs1446694801
NM_000053.4(ATP7B):c.*1493T>C rs886050299
NM_000053.4(ATP7B):c.*1744C>T rs9535794
NM_000053.4(ATP7B):c.*1756T>C rs886050296
NM_000053.4(ATP7B):c.*1782del rs886050295
NM_000053.4(ATP7B):c.*190C>T rs115420019
NM_000053.4(ATP7B):c.*221C>A rs886050305
NM_000053.4(ATP7B):c.*510G>T rs886050304
NM_000053.4(ATP7B):c.*781T>C rs886050303
NM_000053.4(ATP7B):c.*994_*997del rs886050301
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000053.4(ATP7B):c.-388C>T rs913869716
NM_000053.4(ATP7B):c.-396C>G rs145371060
NM_000053.4(ATP7B):c.-436_-422del rs1484840087
NM_000053.4(ATP7B):c.-441C>G rs1954047176
NM_000053.4(ATP7B):c.-73G>T rs886050309
NM_000053.4(ATP7B):c.-74C>A rs193922101
NM_000053.4(ATP7B):c.-91C>T rs1593893115
NM_000053.4(ATP7B):c.-97C>T rs886050310
NM_000053.4(ATP7B):c.1000dup (p.Ser334fs)
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=) rs1951990469
NM_000053.4(ATP7B):c.1013A>G (p.His338Arg)
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.1017del (p.Arg339fs)
NM_000053.4(ATP7B):c.1022C>G (p.Ser341Cys)
NM_000053.4(ATP7B):c.1023C>T (p.Ser341=) rs1593788631
NM_000053.4(ATP7B):c.1027T>C (p.Ser343Pro) rs2140077796
NM_000053.4(ATP7B):c.1028C>G (p.Ser343Cys)
NM_000053.4(ATP7B):c.102G>A (p.Lys34=) rs2140115866
NM_000053.4(ATP7B):c.1030C>T (p.His344Tyr) rs2140077548
NM_000053.4(ATP7B):c.1035C>G (p.Ser345=) rs749528474
NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser)
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter) rs1057516516
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.104_105insT (p.Lys35fs) rs1316032472
NM_000053.4(ATP7B):c.1058A>G (p.Gln353Arg) rs532441558
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
NM_000053.4(ATP7B):c.1065G>C (p.Gln355His)
NM_000053.4(ATP7B):c.1068C>T (p.Gly356=)
NM_000053.4(ATP7B):c.106A>T (p.Ser36Cys)
NM_000053.4(ATP7B):c.1071A>C (p.Thr357=)
NM_000053.4(ATP7B):c.1071A>G (p.Thr357=) rs970380935
NM_000053.4(ATP7B):c.1073del (p.Cys358fs) rs1951985366
NM_000053.4(ATP7B):c.1074C>T (p.Cys358=)
NM_000053.4(ATP7B):c.107G>C (p.Ser36Thr)
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.10C>G (p.Gln4Glu)
NM_000053.4(ATP7B):c.1100G>A (p.Gly367Asp)
NM_000053.4(ATP7B):c.1100del (p.Gly367fs) rs2140073872
NM_000053.4(ATP7B):c.1104G>A (p.Met368Ile) rs1476381647
NM_000053.4(ATP7B):c.1105A>C (p.Thr369Pro)
NM_000053.4(ATP7B):c.1107C>A (p.Thr369=)
NM_000053.4(ATP7B):c.1107_1108dup (p.Cys370fs) rs2140073366
NM_000053.4(ATP7B):c.1110T>C (p.Cys370=)
NM_000053.4(ATP7B):c.1111G>A (p.Ala371Thr)
NM_000053.4(ATP7B):c.1113A>G (p.Ala371=)
NM_000053.4(ATP7B):c.1115C>T (p.Ser372Phe) rs1951982961
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.111dup (p.Ala38fs) rs1555296939
NM_000053.4(ATP7B):c.1131T>A (p.Ile377=)
NM_000053.4(ATP7B):c.1136del (p.Gly379fs) rs2140072323
NM_000053.4(ATP7B):c.1138A>C (p.Met380Leu)
NM_000053.4(ATP7B):c.113C>T (p.Ala38Val) rs935963471
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter) rs2140071850
NM_000053.4(ATP7B):c.1149A>G (p.Gln383=)
NM_000053.4(ATP7B):c.1150C>T (p.Leu384=) rs2140071717
NM_000053.4(ATP7B):c.1153G>C (p.Glu385Gln) rs772069735
NM_000053.4(ATP7B):c.1155A>C (p.Glu385Asp) rs1593787847
NM_000053.4(ATP7B):c.1155A>G (p.Glu385=)
NM_000053.4(ATP7B):c.1155_1156del (p.Val387fs)
NM_000053.4(ATP7B):c.1158G>A (p.Gly386=) rs778775834
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs) rs1593787789
NM_000053.4(ATP7B):c.1161G>A (p.Val387=)
NM_000053.4(ATP7B):c.1164G>A (p.Gln388=) rs2140070526
NM_000053.4(ATP7B):c.1170A>G (p.Ile390Met)
NM_000053.4(ATP7B):c.1171T>C (p.Ser391Pro)
NM_000053.4(ATP7B):c.1172del (p.Ser391fs)
NM_000053.4(ATP7B):c.1173G>C (p.Ser391=)
NM_000053.4(ATP7B):c.1174G>T (p.Val392Leu)
NM_000053.4(ATP7B):c.1174del (p.Val392fs) rs2140069931
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.1186G>A (p.Glu396Lys) rs763051801
NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter) rs763051801
NM_000053.4(ATP7B):c.1188A>C (p.Glu396Asp)
NM_000053.4(ATP7B):c.1191G>A (p.Gly397=) rs561017302
NM_000053.4(ATP7B):c.1191G>C (p.Gly397=)
NM_000053.4(ATP7B):c.1191G>T (p.Gly397=) rs561017302
NM_000053.4(ATP7B):c.1192A>G (p.Thr398Ala)
NM_000053.4(ATP7B):c.1195_1205del (p.Ala399fs)
NM_000053.4(ATP7B):c.11A>C (p.Gln4Pro) rs781780227
NM_000053.4(ATP7B):c.1214C>T (p.Pro405Leu)
NM_000053.4(ATP7B):c.1215_1216delinsTG (p.Ser406Ala) rs2140067853
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr) rs1801243
NM_000053.4(ATP7B):c.1221A>T (p.Val407=)
NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer) rs1555296015
NM_000053.4(ATP7B):c.1224T>C (p.Ile408=)
NM_000053.4(ATP7B):c.122del (p.Asn41fs) rs2140114949
NM_000053.4(ATP7B):c.1231G>A (p.Glu411Lys) rs886050308
NM_000053.4(ATP7B):c.1233A>C (p.Glu411Asp) rs2140067189
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.1242_1243del (p.Arg414fs) rs2140066737
NM_000053.4(ATP7B):c.1257C>T (p.Asp419=)
NM_000053.4(ATP7B):c.1272T>G (p.Ala424=)
NM_000053.4(ATP7B):c.127G>A (p.Gly43Ser) rs1255787917
NM_000053.4(ATP7B):c.1282T>G (p.Ser428Ala) rs1951967393
NM_000053.4(ATP7B):c.1285+3A>G
NM_000053.4(ATP7B):c.1285+4C>T
NM_000053.4(ATP7B):c.1285+5G>A
NM_000053.4(ATP7B):c.1285+5G>C rs370579582
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.1286-16T>C
NM_000053.4(ATP7B):c.1286-19T>G
NM_000053.4(ATP7B):c.1286-1G>T rs2139975355
NM_000053.4(ATP7B):c.1286-2A>G rs2139975409
NM_000053.4(ATP7B):c.1286-6T>C rs2139975568
NM_000053.4(ATP7B):c.1286-8dup
NM_000053.4(ATP7B):c.1291T>G (p.Cys431Gly) rs145173864
NM_000053.4(ATP7B):c.1296T>A (p.Ser432=)
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
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.130T>A (p.Tyr44Asn) rs1566605396
NM_000053.4(ATP7B):c.130del (p.Tyr44fs)
NM_000053.4(ATP7B):c.1317C>T (p.His439=)
NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys) rs1209726590
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.132del (p.Gly43_Tyr44insTer)
NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs) rs1057517141
NM_000053.4(ATP7B):c.1339C>T (p.Gln447Ter) rs746637821
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs) rs1057517444
NM_000053.4(ATP7B):c.1344T>C (p.Thr448=) rs2139972320
NM_000053.4(ATP7B):c.1352del (p.Gly451fs)
NM_000053.4(ATP7B):c.1354A>T (p.Thr452Ser)
NM_000053.4(ATP7B):c.1359T>G (p.Pro453=) rs2139970676
NM_000053.4(ATP7B):c.1360dup (p.Thr454fs)
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.1369C>T (p.Gln457Ter) rs1951795080
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter) rs1057516305
NM_000053.4(ATP7B):c.1374A>G (p.Glu458=) rs1298098944
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) rs1060499593
NM_000053.4(ATP7B):c.1381C>T (p.Pro461Ser)
NM_000053.4(ATP7B):c.1383C>G (p.Pro461=)
NM_000053.4(ATP7B):c.1386C>T (p.His462=)
NM_000053.4(ATP7B):c.1389_1405del (p.Gly464fs) rs1593775055
NM_000053.4(ATP7B):c.1392dup (p.Arg465fs) rs1555295017
NM_000053.4(ATP7B):c.1397_1403del (p.Leu466fs)
NM_000053.4(ATP7B):c.13G>A (p.Glu5Lys)
NM_000053.4(ATP7B):c.13G>C (p.Glu5Gln)
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.1402G>A (p.Ala468Thr) rs760282247
NM_000053.4(ATP7B):c.1416G>T (p.Pro472=)
NM_000053.4(ATP7B):c.1419C>T (p.Asp473=) rs1951791845
NM_000053.4(ATP7B):c.1427C>T (p.Ala476Val) rs1194712970
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.1436del (p.Pro479fs)
NM_000053.4(ATP7B):c.1440A>G (p.Gln480=)
NM_000053.4(ATP7B):c.1441T>C (p.Ser481Pro)
NM_000053.4(ATP7B):c.1450G>A (p.Ala484Thr)
NM_000053.4(ATP7B):c.1452A>G (p.Ala484=) rs1353189490
NM_000053.4(ATP7B):c.1460C>A (p.Pro487Gln)
NM_000053.4(ATP7B):c.1463dup (p.Lys489fs)
NM_000053.4(ATP7B):c.1464G>A (p.Gln488=) rs2139963919
NM_000053.4(ATP7B):c.1465A>T (p.Lys489Ter)
NM_000053.4(ATP7B):c.1467G>A (p.Lys489=)
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1470C>T (p.Cys490=)
NM_000053.4(ATP7B):c.1472T>G (p.Phe491Cys)
NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser) rs1566580253
NM_000053.4(ATP7B):c.1475del (p.Leu492fs)
NM_000053.4(ATP7B):c.1477C>T (p.Gln493Ter)
NM_000053.4(ATP7B):c.1485A>G (p.Lys495=) rs2139963160
NM_000053.4(ATP7B):c.1493C>T (p.Thr498Ile) rs2139962593
NM_000053.4(ATP7B):c.1494C>T (p.Thr498=) rs1951787914
NM_000053.4(ATP7B):c.1494del (p.Cys499fs)
NM_000053.4(ATP7B):c.1495T>C (p.Cys499Arg) rs749968753
NM_000053.4(ATP7B):c.1496G>C (p.Cys499Ser)
NM_000053.4(ATP7B):c.1497T>A (p.Cys499Ter)
NM_000053.4(ATP7B):c.14_38del (p.Glu5fs) rs2140768125
NM_000053.4(ATP7B):c.1502C>T (p.Ser501Phe)
NM_000053.4(ATP7B):c.150C>T (p.Gly50=)
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter) rs1057516418
NM_000053.4(ATP7B):c.1515C>T (p.Asn505=)
NM_000053.4(ATP7B):c.1517_1518del (p.Ile506fs)
NM_000053.4(ATP7B):c.1518A>G (p.Ile506Met)
NM_000053.4(ATP7B):c.151C>T (p.Leu51=)
NM_000053.4(ATP7B):c.1520A>G (p.Glu507Gly)
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs) rs772000260
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter) rs1449610384
NM_000053.4(ATP7B):c.1536A>G (p.Lys512=) rs1209399847
NM_000053.4(ATP7B):c.1537G>T (p.Glu513Ter) rs2139960322
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+1G>A
NM_000053.4(ATP7B):c.1543+1G>C rs1360279134
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.1543+4A>G
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.1544-1G>A rs1951686649
NM_000053.4(ATP7B):c.1544-20C>A
NM_000053.4(ATP7B):c.1544-2A>C rs1555294398
NM_000053.4(ATP7B):c.1544-2A>G
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.1552T>C (p.Ser518Pro) rs2139897814
NM_000053.4(ATP7B):c.1557G>A (p.Val519=) rs2139897244
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter) rs773385516
NM_000053.4(ATP7B):c.1568T>C (p.Leu523Ser)
NM_000053.4(ATP7B):c.156C>T (p.Gly52=)
NM_000053.4(ATP7B):c.1580del (p.Lys527fs)
NM_000053.4(ATP7B):c.1582G>A (p.Ala528Thr)
NM_000053.4(ATP7B):c.1584A>G (p.Ala528=)
NM_000053.4(ATP7B):c.1590C>A (p.Ile530=) rs745800861
NM_000053.4(ATP7B):c.1594T>C (p.Tyr532His)
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys) rs375071383
NM_000053.4(ATP7B):c.1596T>A (p.Tyr532Ter) rs1951683498
NM_000053.4(ATP7B):c.1599C>T (p.Asp533=) rs2139894042
NM_000053.4(ATP7B):c.1600C>T (p.Pro534Ser)
NM_000053.4(ATP7B):c.1602A>G (p.Pro534=) rs2139893951
NM_000053.4(ATP7B):c.1605_1608dup (p.Ile537fs)
NM_000053.4(ATP7B):c.1608C>A (p.Val536=)
NM_000053.4(ATP7B):c.160TCT[1] (p.Ser55del)
NM_000053.4(ATP7B):c.1612C>T (p.Gln538Ter)
NM_000053.4(ATP7B):c.1614G>T (p.Gln538His)
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.4(ATP7B):c.1617C>A (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.1639C>T (p.Gln547Ter) rs996419100
NM_000053.4(ATP7B):c.1644C>T (p.Asp548=)
NM_000053.4(ATP7B):c.1647G>T (p.Leu549=)
NM_000053.4(ATP7B):c.1648G>A (p.Gly550Ser) rs964566440
NM_000053.4(ATP7B):c.1648_1654del (p.Gly550fs) rs1951680623
NM_000053.4(ATP7B):c.1649del (p.Gly550fs) rs2139890297
NM_000053.4(ATP7B):c.1653T>C (p.Phe551=)
NM_000053.4(ATP7B):c.1658C>A (p.Ala553Glu) rs1179062239
NM_000053.4(ATP7B):c.1660_1666dup (p.Met556fs)
NM_000053.4(ATP7B):c.1662A>G (p.Ala554=)
NM_000053.4(ATP7B):c.1665C>A (p.Val555=)
NM_000053.4(ATP7B):c.1666A>C (p.Met556Leu)
NM_000053.4(ATP7B):c.1666A>G (p.Met556Val) rs200212457
NM_000053.4(ATP7B):c.1667T>C (p.Met556Thr)
NM_000053.4(ATP7B):c.1669G>A (p.Glu557Lys)
NM_000053.4(ATP7B):c.1670A>G (p.Glu557Gly)
NM_000053.4(ATP7B):c.1674C>T (p.Asp558=) rs2139887509
NM_000053.4(ATP7B):c.1675dup (p.Tyr559fs)
NM_000053.4(ATP7B):c.1676A>G (p.Tyr559Cys) rs1266694873
NM_000053.4(ATP7B):c.1677C>A (p.Tyr559Ter) rs142187604
NM_000053.4(ATP7B):c.167dup (p.Val57fs)
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.1699G>T (p.Glu567Ter) rs1454088856
NM_000053.4(ATP7B):c.169G>A (p.Val57Met)
NM_000053.4(ATP7B):c.1700_1707+16del rs1555294199
NM_000053.4(ATP7B):c.1705_1707+10del rs2139883798
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.1707+1G>A rs377001615
NM_000053.4(ATP7B):c.1707+2dup rs781531824
NM_000053.4(ATP7B):c.1708-15C>T
NM_000053.4(ATP7B):c.1708-17G>A
NM_000053.4(ATP7B):c.1708-1G>A rs137853280
NM_000053.4(ATP7B):c.1708-25_1719del rs1566560096
NM_000053.4(ATP7B):c.1708-2A>G rs1057517024
NM_000053.4(ATP7B):c.1708-34G>A rs780389157
NM_000053.4(ATP7B):c.1708-3C>G rs1593752864
NM_000053.4(ATP7B):c.1708-4G>A rs1951476196
NM_000053.4(ATP7B):c.1708-9G>A
NM_000053.4(ATP7B):c.1709T>C (p.Ile570Thr)
NM_000053.4(ATP7B):c.1710C>T (p.Ile570=) rs2139780456
NM_000053.4(ATP7B):c.1713A>G (p.Thr571=)
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1722C>T (p.Thr574=)
NM_000053.4(ATP7B):c.1725C>T (p.Cys575=)
NM_000053.4(ATP7B):c.1727C>T (p.Ala576Val)
NM_000053.4(ATP7B):c.1727_1728del (p.Ala576fs)
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.1738del (p.His580fs)
NM_000053.4(ATP7B):c.1739del (p.His580fs) rs1555293357
NM_000053.4(ATP7B):c.1740C>T (p.His580=)
NM_000053.4(ATP7B):c.1740del (p.His580fs) rs2139777345
NM_000053.4(ATP7B):c.1741A>T (p.Asn581Tyr) rs756435919
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.1746A>C (p.Ile582=) rs2139776638
NM_000053.4(ATP7B):c.174dup (p.Thr59fs) rs1057516561
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.176C>T (p.Thr59Ile)
NM_000053.4(ATP7B):c.1770dup (p.Gly591fs) rs2139775159
NM_000053.4(ATP7B):c.1771G>A (p.Gly591Ser) rs1566559224
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.1781A>C (p.Tyr594Ser)
NM_000053.4(ATP7B):c.1781A>G (p.Tyr594Cys)
NM_000053.4(ATP7B):c.1781_1797del (p.Tyr594fs)
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.1803del (p.Ser602fs)
NM_000053.4(ATP7B):c.1806C>T (p.Ser602=)
NM_000053.4(ATP7B):c.1811C>A (p.Ala604Asp) rs959916899
NM_000053.4(ATP7B):c.1813dup (p.Leu605fs) rs1951467428
NM_000053.4(ATP7B):c.1819A>T (p.Lys607Ter) rs1951466736
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs) rs1057516940
NM_000053.4(ATP7B):c.1823T>C (p.Phe608Ser)
NM_000053.4(ATP7B):c.1828C>T (p.Pro610Ser) rs753069338
NM_000053.4(ATP7B):c.1834A>G (p.Ile612Val) rs886050307
NM_000053.4(ATP7B):c.1839C>G (p.Ile613Met)
NM_000053.4(ATP7B):c.1840G>A (p.Gly614Ser)
NM_000053.4(ATP7B):c.1841G>A (p.Gly614Asp) rs1951465769
NM_000053.4(ATP7B):c.1850A>G (p.Asp617Gly) rs371038011
NM_000053.4(ATP7B):c.1851T>C (p.Asp617=)
NM_000053.4(ATP7B):c.1855A>G (p.Ile619Val)
NM_000053.4(ATP7B):c.1855del (p.Ile619fs)
NM_000053.4(ATP7B):c.1865T>C (p.Ile622Thr)
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+1G>A
NM_000053.4(ATP7B):c.1869+20A>C
NM_000053.4(ATP7B):c.1869+2T>C rs2139767694
NM_000053.4(ATP7B):c.1869+4A>T rs2139767595
NM_000053.4(ATP7B):c.1869+5_1869+8del rs2139767189
NM_000053.4(ATP7B):c.1869+9T>C rs2139767115
NM_000053.4(ATP7B):c.1869G>A (p.Glu623=) rs2139767805
NM_000053.4(ATP7B):c.186C>T (p.Val62=) rs1187762934
NM_000053.4(ATP7B):c.1870-17C>G
NM_000053.4(ATP7B):c.1870-19C>T
NM_000053.4(ATP7B):c.1870-1G>C
NM_000053.4(ATP7B):c.1870-20C>T
NM_000053.4(ATP7B):c.1870-4C>T
NM_000053.4(ATP7B):c.1870-5A>G rs2139670020
NM_000053.4(ATP7B):c.1870-7T>C
NM_000053.4(ATP7B):c.1870_1871del (p.Glu624fs) rs2139669739
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.1883_1884del (p.His628fs)
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.1907C>A (p.Pro636His) rs1593739354
NM_000053.4(ATP7B):c.1908dup (p.Asn637fs)
NM_000053.4(ATP7B):c.1911C>T (p.Asn637=) rs770640457
NM_000053.4(ATP7B):c.1912G>T (p.Ala638Ser)
NM_000053.4(ATP7B):c.1921T>C (p.Leu641=)
NM_000053.4(ATP7B):c.1921T>G (p.Leu641Val)
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.1926C>T (p.Asp642=) rs2139666833
NM_000053.4(ATP7B):c.1931A>G (p.Lys644Arg)
NM_000053.4(ATP7B):c.1933A>G (p.Met645Val)
NM_000053.4(ATP7B):c.1933A>T (p.Met645Leu) rs749412315
NM_000053.4(ATP7B):c.1945C>T (p.Gln649Ter) rs1958765122
NM_000053.4(ATP7B):c.1946+13C>T
NM_000053.4(ATP7B):c.1946+16A>C
NM_000053.4(ATP7B):c.1946+1G>A
NM_000053.4(ATP7B):c.1946+1del rs1958764803
NM_000053.4(ATP7B):c.1946+5G>A rs2139666211
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.1947-19T>A rs1593733949
NM_000053.4(ATP7B):c.1947-1G>C rs1405260211
NM_000053.4(ATP7B):c.1947-8C>A
NM_000053.4(ATP7B):c.1949G>A (p.Trp650Ter)
NM_000053.4(ATP7B):c.1954A>T (p.Lys652Ter)
NM_000053.4(ATP7B):c.1957T>G (p.Ser653Ala)
NM_000053.4(ATP7B):c.1963del (p.Leu655fs) rs2139612433
NM_000053.4(ATP7B):c.1964T>A (p.Leu655Gln) rs2139612314
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1965G>C (p.Leu655=)
NM_000053.4(ATP7B):c.1965G>T (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1968C>T (p.Cys656=) rs2139611953
NM_000053.4(ATP7B):c.1972C>T (p.Leu658=)
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.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2006T>C (p.Ile669Thr)
NM_000053.4(ATP7B):c.2009_2012dup (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.2012T>C (p.Met671Thr)
NM_000053.4(ATP7B):c.2025C>T (p.Ser675=) rs2139607888
NM_000053.4(ATP7B):c.202del (p.Thr68fs)
NM_000053.4(ATP7B):c.2034C>A (p.Pro678=)
NM_000053.4(ATP7B):c.2034C>G (p.Pro678=) rs571680164
NM_000053.4(ATP7B):c.2035del (p.His679fs) rs786204764
NM_000053.4(ATP7B):c.2035dup (p.His679fs)
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter) rs1555291848
NM_000053.4(ATP7B):c.2039A>G (p.Gln680Arg)
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val) rs1555291836
NM_000053.4(ATP7B):c.2049C>T (p.Val683=) rs2139606106
NM_000053.4(ATP7B):c.2053G>A (p.Asp685Asn)
NM_000053.4(ATP7B):c.2057ACA[1] (p.Asn687del) rs770107276
NM_000053.4(ATP7B):c.2058C>T (p.His686=)
NM_000053.4(ATP7B):c.2060A>T (p.Asn687Ile)
NM_000053.4(ATP7B):c.2068C>A (p.Pro690Thr)
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu) rs1555291809
NM_000053.4(ATP7B):c.206G>T (p.Cys69Phe)
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2071G>C (p.Gly691Arg)
NM_000053.4(ATP7B):c.2076G>A (p.Leu692=) rs2139604781
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.207C>T (p.Cys69=)
NM_000053.4(ATP7B):c.2088T>C (p.Asn696=) rs2139604066
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
NM_000053.4(ATP7B):c.2091C>A (p.Leu697=) rs1486015000
NM_000053.4(ATP7B):c.2094C>T (p.Ile698=)
NM_000053.4(ATP7B):c.2094CTT[1] (p.Phe700del) rs1555291787
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs) rs1555291784
NM_000053.4(ATP7B):c.2108G>T (p.Cys703Phe)
NM_000053.4(ATP7B):c.210del (p.Gln70fs)
NM_000053.4(ATP7B):c.2118C>T (p.Val706=)
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
NM_000053.4(ATP7B):c.2121+19G>T rs202091743
NM_000053.4(ATP7B):c.2121+1G>A rs751235573
NM_000053.4(ATP7B):c.2121+1G>T
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2121+3A>T rs1248002612
NM_000053.4(ATP7B):c.2121+4T>C
NM_000053.4(ATP7B):c.2121+5A>G rs763275345
NM_000053.4(ATP7B):c.2121+6T>G rs1958633477
NM_000053.4(ATP7B):c.2121+7A>G
NM_000053.4(ATP7B):c.2122-16T>C
NM_000053.4(ATP7B):c.2122-19C>A
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.2122-3C>G rs1593726901
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901
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.2128_2133del (p.Gly710_Gly711del)
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.2132G>A (p.Gly711Glu) rs2139545313
NM_000053.4(ATP7B):c.2133del (p.Trp712fs)
NM_000053.4(ATP7B):c.2135G>A (p.Trp712Ter)
NM_000053.4(ATP7B):c.2139C>T (p.Tyr713=)
NM_000053.4(ATP7B):c.213A>G (p.Ser71=) rs1952036108
NM_000053.4(ATP7B):c.213_214del (p.Val73fs) rs1445951068
NM_000053.4(ATP7B):c.2140T>C (p.Phe714Leu) rs1372799442
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.2145del (p.Phe714_Tyr715insTer) rs1593726648
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.2152del (p.Ala718fs)
NM_000053.4(ATP7B):c.2152delinsTCC (p.Ala718fs)
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) rs1057516380
NM_000053.4(ATP7B):c.2157del (p.Ala718_Tyr719insTer) rs1958506321
NM_000053.4(ATP7B):c.215G>A (p.Cys72Tyr)
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2169A>G (p.Arg723=)
NM_000053.4(ATP7B):c.2175G>T (p.Arg725Ser) rs61733684
NM_000053.4(ATP7B):c.2181C>T (p.Ala727=)
NM_000053.4(ATP7B):c.2182A>G (p.Asn728Asp)
NM_000053.4(ATP7B):c.2185A>G (p.Met729Val)
NM_000053.4(ATP7B):c.218_219del (p.Val73fs)
NM_000053.4(ATP7B):c.2193G>A (p.Val731=)
NM_000053.4(ATP7B):c.2194C>T (p.Leu732Phe) rs1958502647
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.2204T>G (p.Leu735Arg)
NM_000053.4(ATP7B):c.2208C>A (p.Ala736=) rs1593726238
NM_000053.4(ATP7B):c.220A>T (p.Lys74Ter) rs1952035259
NM_000053.4(ATP7B):c.2212A>C (p.Ser738Arg)
NM_000053.4(ATP7B):c.2215A>G (p.Ile739Val)
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs) rs1555291207
NM_000053.4(ATP7B):c.2222A>C (p.Tyr741Ser)
NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter) rs1958499640
NM_000053.4(ATP7B):c.2224G>A (p.Val742Ile) rs2139538547
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs) rs1958499462
NM_000053.4(ATP7B):c.2228_2229insACA (p.Tyr743Ter)
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.2231C>G (p.Ser744Cys)
NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe) rs1958498953
NM_000053.4(ATP7B):c.2232T>C (p.Ser744=)
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs) rs1555291195
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.2241_2242insAG (p.Leu748fs)
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser) rs1555291181
NM_000053.4(ATP7B):c.2255_2262dup (p.Lys755fs)
NM_000053.4(ATP7B):c.225C>T (p.Ser75=) rs1218959048
NM_000053.4(ATP7B):c.2261A>G (p.Glu754Gly)
NM_000053.4(ATP7B):c.2271G>A (p.Glu757=) rs2139534393
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.4(ATP7B):c.2280_2301del (p.Val761fs)
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.2286dup (p.Phe763fs)
NM_000053.4(ATP7B):c.2292_2312del (p.Asp765_Phe771del)
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2295C>G (p.Asp765Glu) rs774769813
NM_000053.4(ATP7B):c.2295C>T (p.Asp765=)
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg) rs121907997
NM_000053.4(ATP7B):c.2299C>A (p.Pro767Thr) rs2139531503
NM_000053.4(ATP7B):c.229G>T (p.Glu77Ter) rs1952034577
NM_000053.4(ATP7B):c.22A>G (p.Ile8Val)
NM_000053.4(ATP7B):c.2300C>G (p.Pro767Arg) rs776668666
NM_000053.4(ATP7B):c.2303C>G (p.Pro768Arg) rs1057516844
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.2307G>T (p.Met769Ile)
NM_000053.4(ATP7B):c.2310C>T (p.Leu770=)
NM_000053.4(ATP7B):c.2310dup (p.Phe771fs)
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.2325C>T (p.Ala775=) rs755218710
NM_000053.4(ATP7B):c.2326C>G (p.Leu776Val) rs1217463955
NM_000053.4(ATP7B):c.2327T>C (p.Leu776Pro)
NM_000053.4(ATP7B):c.2332C>A (p.Arg778=)
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) rs28942074
NM_000053.4(ATP7B):c.2337G>A (p.Trp779Ter) rs137853282
NM_000053.4(ATP7B):c.2337G>C (p.Trp779Cys) rs137853282
NM_000053.4(ATP7B):c.2338C>G (p.Leu780Val) rs1593725352
NM_000053.4(ATP7B):c.2340G>T (p.Leu780=) rs2139527463
NM_000053.4(ATP7B):c.2341G>A (p.Glu781Lys) rs1225673619
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.2349G>C (p.Leu783Phe) rs778848412
NM_000053.4(ATP7B):c.234C>T (p.Asp78=)
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+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.2355+1G>A
NM_000053.4(ATP7B):c.2355+5C>T
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.2356-1G>A rs1555290925
NM_000053.4(ATP7B):c.2356-1G>C rs1555290925
NM_000053.4(ATP7B):c.2356-20A>G
NM_000053.4(ATP7B):c.2356-2A>G rs2139505830
NM_000053.4(ATP7B):c.2356-2A>T
NM_000053.4(ATP7B):c.2356-9A>G rs1339073174
NM_000053.4(ATP7B):c.2358C>T (p.Ser786=) rs963396551
NM_000053.4(ATP7B):c.2359A>C (p.Lys787Gln)
NM_000053.4(ATP7B):c.235A>C (p.Arg79=)
NM_000053.4(ATP7B):c.2364C>A (p.Thr788=) rs2139504987
NM_000053.4(ATP7B):c.2364C>T (p.Thr788=)
NM_000053.4(ATP7B):c.2366C>T (p.Ser789Leu) rs1593722956
NM_000053.4(ATP7B):c.2367A>G (p.Ser789=) rs1191351621
NM_000053.4(ATP7B):c.236G>A (p.Arg79Lys)
NM_000053.4(ATP7B):c.2371G>T (p.Ala791Ser)
NM_000053.4(ATP7B):c.2374C>G (p.Leu792Val)
NM_000053.4(ATP7B):c.2375T>C (p.Leu792Pro) rs1593722897
NM_000053.4(ATP7B):c.2385C>G (p.Leu795=)
NM_000053.4(ATP7B):c.2387T>A (p.Met796Lys)
NM_000053.4(ATP7B):c.2388_2389del (p.Met796fs) rs2139503242
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe) rs1555290883
NM_000053.4(ATP7B):c.2392C>T (p.Leu798Phe)
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.2407G>A (p.Ala803Thr)
NM_000053.4(ATP7B):c.2410dup (p.Thr804fs)
NM_000053.4(ATP7B):c.2412C>G (p.Thr804=) rs372306234
NM_000053.4(ATP7B):c.2413G>A (p.Val805Ile)
NM_000053.4(ATP7B):c.2415T>A (p.Val805=) rs768218512
NM_000053.4(ATP7B):c.2415T>C (p.Val805=)
NM_000053.4(ATP7B):c.2415_2416insA (p.Val806fs)
NM_000053.4(ATP7B):c.241T>A (p.Ser81Thr) rs1952034021
NM_000053.4(ATP7B):c.2424_2425insA (p.Gly809fs)
NM_000053.4(ATP7B):c.2426G>A (p.Gly809Asp)
NM_000053.4(ATP7B):c.2426del (p.Gly809fs) rs1958433515
NM_000053.4(ATP7B):c.2427T>C (p.Gly809=)
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter) rs770020484
NM_000053.4(ATP7B):c.2433C>T (p.Asp811=) rs1958432499
NM_000053.4(ATP7B):c.2434A>C (p.Asn812His)
NM_000053.4(ATP7B):c.2435A>G (p.Asn812Ser)
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs) rs1555290810
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+1G>T rs1958431105
NM_000053.4(ATP7B):c.2447+1del rs1057516732
NM_000053.4(ATP7B):c.2447+20T>C
NM_000053.4(ATP7B):c.2447+2T>G rs1555290800
NM_000053.4(ATP7B):c.2447+5G>A rs1369012080
NM_000053.4(ATP7B):c.2447+5G>T
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.2452del (p.Glu818fs)
NM_000053.4(ATP7B):c.2454G>A (p.Glu818=)
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.246T>C (p.Asn82=) rs2140110183
NM_000053.4(ATP7B):c.246_284del (p.Asn82_Gln95delinsLys)
NM_000053.4(ATP7B):c.2473G>A (p.Val825Met)
NM_000053.4(ATP7B):c.2476_2510del (p.Gln826fs)
NM_000053.4(ATP7B):c.2478_2479delinsT (p.Gln826fs) rs1555288808
NM_000053.4(ATP7B):c.2480G>A (p.Arg827Gln) rs368589213
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.2485G>C (p.Asp829His)
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly) rs1566503575
NM_000053.4(ATP7B):c.2486A>T (p.Asp829Val)
NM_000053.4(ATP7B):c.2491G>A (p.Val831Ile)
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.2497dup (p.Val833fs)
NM_000053.4(ATP7B):c.2499G>C (p.Val833=)
NM_000053.4(ATP7B):c.2505T>C (p.Pro835=) rs2139229075
NM_000053.4(ATP7B):c.2506G>A (p.Gly836Arg) rs2139228853
NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu) rs773809011
NM_000053.4(ATP7B):c.2510del (p.Gly837fs) rs964976261
NM_000053.4(ATP7B):c.2510dup (p.Phe839fs) rs964976261
NM_000053.4(ATP7B):c.2512_2513del (p.Lys838fs)
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.2517T>C (p.Phe839=) rs1192411256
NM_000053.4(ATP7B):c.2518C>T (p.Pro840Ser)
NM_000053.4(ATP7B):c.2520A>T (p.Pro840=)
NM_000053.4(ATP7B):c.2526T>C (p.Asp842=)
NM_000053.4(ATP7B):c.2527G>A (p.Gly843Arg)
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2535C>A (p.Val845=) rs1957917567
NM_000053.4(ATP7B):c.2536del (p.Leu846fs)
NM_000053.4(ATP7B):c.2538G>A (p.Leu846=) rs2139224830
NM_000053.4(ATP7B):c.2543G>A (p.Gly848Asp)
NM_000053.4(ATP7B):c.2544C>A (p.Gly848=)
NM_000053.4(ATP7B):c.2546A>G (p.Asn849Ser)
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
NM_000053.4(ATP7B):c.2550C>T (p.Thr850=)
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) rs752634617
NM_000053.4(ATP7B):c.2559T>C (p.Asp853=) rs2139222717
NM_000053.4(ATP7B):c.2561A>G (p.Glu854Gly)
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2572A>G (p.Thr858Ala) rs2139220914
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+1G>A rs766149114
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.2576-2A>G rs757265256
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.2578G>T (p.Glu860Ter)
NM_000053.4(ATP7B):c.2588C>T (p.Pro863Leu)
NM_000053.4(ATP7B):c.2588del (p.Pro863fs) rs2139212289
NM_000053.4(ATP7B):c.2589A>C (p.Pro863=)
NM_000053.4(ATP7B):c.2589A>G (p.Pro863=)
NM_000053.4(ATP7B):c.2589del (p.Val864fs) rs2139212032
NM_000053.4(ATP7B):c.258C>A (p.Ile86=)
NM_000053.4(ATP7B):c.258C>T (p.Ile86=) rs2140109665
NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly) rs1555288669
NM_000053.4(ATP7B):c.2595T>C (p.Thr865=)
NM_000053.4(ATP7B):c.2595dup (p.Lys866Ter)
NM_000053.4(ATP7B):c.2601A>G (p.Lys867=)
NM_000053.4(ATP7B):c.2604del (p.Gly869fs) rs1957904411
NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter) rs191312027
NM_000053.4(ATP7B):c.2613T>C (p.Thr871=)
NM_000053.4(ATP7B):c.2613T>G (p.Thr871=) rs1593696108
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs) rs2139209584
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro) rs376355660
NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu) rs121907994
NM_000053.4(ATP7B):c.2622_2643del (p.Gly875fs) rs2139208029
NM_000053.4(ATP7B):c.262A>G (p.Ser88Gly)
NM_000053.4(ATP7B):c.2634T>G (p.Asn878Lys)
NM_000053.4(ATP7B):c.2637_2650del (p.His880_Gly881insTer) rs2139207205
NM_000053.4(ATP7B):c.2641G>A (p.Gly881Ser) rs2139208285
NM_000053.4(ATP7B):c.2648_2649del (p.Val883fs)
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.2659G>C (p.Ala887Pro)
NM_000053.4(ATP7B):c.2659del (p.Ala887fs)
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser) rs1455758826
NM_000053.4(ATP7B):c.2663C>T (p.Thr888Ile)
NM_000053.4(ATP7B):c.2664C>A (p.Thr888=)
NM_000053.4(ATP7B):c.2664C>G (p.Thr888=) rs1352578154
NM_000053.4(ATP7B):c.2666A>G (p.His889Arg) rs1202275017
NM_000053.4(ATP7B):c.2668G>T (p.Val890Leu)
NM_000053.4(ATP7B):c.2672G>A (p.Gly891Asp) rs483352684
NM_000053.4(ATP7B):c.2673del (p.Asn892fs)
NM_000053.4(ATP7B):c.2674A>T (p.Asn892Tyr)
NM_000053.4(ATP7B):c.2675A>G (p.Asn892Ser)
NM_000053.4(ATP7B):c.2680A>G (p.Thr894Ala)
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2682C>A (p.Thr894=) rs2139204035
NM_000053.4(ATP7B):c.2682C>T (p.Thr894=)
NM_000053.4(ATP7B):c.2687del (p.Leu896fs)
NM_000053.4(ATP7B):c.268_270del (p.Lys90del) rs751970838
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter) rs1957898187
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del) rs2139201690
NM_000053.4(ATP7B):c.2698G>A (p.Val900Met)
NM_000053.4(ATP7B):c.26C>T (p.Thr9Ile)
NM_000053.4(ATP7B):c.2701A>G (p.Lys901Glu) rs1593695760
NM_000053.4(ATP7B):c.270G>A (p.Lys90=) rs2140108643
NM_000053.4(ATP7B):c.2718T>G (p.Ala906=)
NM_000053.4(ATP7B):c.2720A>G (p.Gln907Arg)
NM_000053.4(ATP7B):c.2724G>A (p.Met908Ile) rs2139201407
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+1G>A rs1057516425
NM_000053.4(ATP7B):c.2730+2T>A rs2139201007
NM_000053.4(ATP7B):c.2730+2T>C rs2139201007
NM_000053.4(ATP7B):c.2730+8A>G rs777812184
NM_000053.4(ATP7B):c.2731-18G>T
NM_000053.4(ATP7B):c.2731-1G>A rs2139193234
NM_000053.4(ATP7B):c.2731-4A>C rs2139193356
NM_000053.4(ATP7B):c.2731G>A (p.Ala911Thr)
NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val) rs1014184765
NM_000053.4(ATP7B):c.2735C>A (p.Pro912His) rs2139192970
NM_000053.4(ATP7B):c.2737A>G (p.Ile913Val)
NM_000053.4(ATP7B):c.2740C>G (p.Gln914Glu)
NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter) rs1555288479
NM_000053.4(ATP7B):c.2748G>A (p.Leu916=)
NM_000053.4(ATP7B):c.2751T>C (p.Ala917=)
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2753A>C (p.Asp918Ala)
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.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2755_2756insAA (p.Arg919fs)
NM_000053.4(ATP7B):c.2759T>G (p.Phe920Cys)
NM_000053.4(ATP7B):c.2762G>T (p.Ser921Ile)
NM_000053.4(ATP7B):c.2763T>A (p.Ser921Arg)
NM_000053.4(ATP7B):c.2763T>G (p.Ser921Arg)
NM_000053.4(ATP7B):c.2766A>G (p.Gly922=)
NM_000053.4(ATP7B):c.2768A>G (p.Tyr923Cys)
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.2781del (p.Phe927fs) rs1957877283
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del) rs1228359983
NM_000053.4(ATP7B):c.2787C>A (p.Ile929=)
NM_000053.4(ATP7B):c.2787C>G (p.Ile929Met) rs773527867
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.2792T>C (p.Met931Thr) rs762875224
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.2796A>G (p.Ser932=) rs1957875863
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2811G>A (p.Val937=)
NM_000053.4(ATP7B):c.2817G>C (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.2823A>C (p.Val941=) rs2139187924
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs) rs1555288385
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.2829T>C (p.Gly943=)
NM_000053.4(ATP7B):c.2832T>C (p.Phe944=)
NM_000053.4(ATP7B):c.2833A>G (p.Ile945Val)
NM_000053.4(ATP7B):c.2836G>A (p.Asp946Asn)
NM_000053.4(ATP7B):c.2837A>T (p.Asp946Val) rs2139186921
NM_000053.4(ATP7B):c.2838T>C (p.Asp946=)
NM_000053.4(ATP7B):c.283C>T (p.Gln95Ter) rs756929892
NM_000053.4(ATP7B):c.2845GTT[1] (p.Val950del) rs1424494639
NM_000053.4(ATP7B):c.2847T>C (p.Val949=)
NM_000053.4(ATP7B):c.2851C>T (p.Gln951Ter)
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+6T>G rs2139185644
NM_000053.4(ATP7B):c.2865+8G>A
NM_000053.4(ATP7B):c.2866-10C>T
NM_000053.4(ATP7B):c.2866-15_2866-14del
NM_000053.4(ATP7B):c.2866-2A>G rs1377418826
NM_000053.4(ATP7B):c.2866-2del rs1593681941
NM_000053.4(ATP7B):c.2866-4T>A rs765102482
NM_000053.4(ATP7B):c.2871C>T (p.Pro957=)
NM_000053.4(ATP7B):c.2871del (p.Asn958fs) rs1957668488
NM_000053.4(ATP7B):c.2873A>G (p.Asn958Ser)
NM_000053.4(ATP7B):c.2875A>G (p.Lys959Glu)
NM_000053.4(ATP7B):c.2880C>T (p.His960=)
NM_000053.4(ATP7B):c.2885_2895del (p.Ser962fs)
NM_000053.4(ATP7B):c.2892del (p.Glu965fs) rs2139062378
NM_000053.4(ATP7B):c.2896del (p.Glu965_Val966insTer)
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.2906G>C (p.Arg969Pro) rs121907996
NM_000053.4(ATP7B):c.2915_2916delinsA (p.Phe972fs)
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.291dup (p.Ala98fs)
NM_000053.4(ATP7B):c.2922G>C (p.Thr974=) rs751802421
NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe) rs778163447
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.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2940C>T (p.Cys980=)
NM_000053.4(ATP7B):c.2946C>T (p.Ala982=) rs2139058124
NM_000053.4(ATP7B):c.2947_2950del (p.Cys983fs)
NM_000053.4(ATP7B):c.2949C>A (p.Cys983Ter) rs1957660801
NM_000053.4(ATP7B):c.2952C>T (p.Pro984=) rs1957660258
NM_000053.4(ATP7B):c.2952del (p.Cys985fs) rs1957660459
NM_000053.4(ATP7B):c.2953del (p.Cys985fs) rs1957660093
NM_000053.4(ATP7B):c.2957C>T (p.Ser986Phe)
NM_000053.4(ATP7B):c.2958C>T (p.Ser986=) rs2139056946
NM_000053.4(ATP7B):c.2959C>T (p.Leu987=)
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.2963G>T (p.Gly988Val)
NM_000053.4(ATP7B):c.2964del (p.Leu989fs)
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.2971A>G (p.Thr991Ala) rs1476409946
NM_000053.4(ATP7B):c.2973G>T (p.Thr991=) rs1801246
NM_000053.4(ATP7B):c.2975C>A (p.Pro992His) rs201038679
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.2976del (p.Thr993fs)
NM_000053.4(ATP7B):c.2980G>T (p.Ala994Ser) rs1555287372
NM_000053.4(ATP7B):c.2986A>G (p.Met996Val)
NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr) rs770782111
NM_000053.4(ATP7B):c.2987del (p.Met996fs) rs2139054241
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.2997dup (p.Gly1000fs) rs1957654399
NM_000053.4(ATP7B):c.2998G>C (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val)
NM_000053.4(ATP7B):c.3007G>C (p.Ala1003Pro) rs201497300
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3010C>T (p.Gln1004Ter)
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000053.4(ATP7B):c.3017G>A (p.Gly1006Asp) rs1184103234
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.3027_3028del (p.Lys1010fs)
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr) rs747584649
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg) rs747584649
NM_000053.4(ATP7B):c.3033A>G (p.Gly1011=) rs773327394
NM_000053.4(ATP7B):c.3033A>T (p.Gly1011=)
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs) rs1555287300
NM_000053.4(ATP7B):c.3039G>A (p.Lys1013=) rs535112212
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu) rs2139048200
NM_000053.4(ATP7B):c.3044T>C (p.Leu1015Pro)
NM_000053.4(ATP7B):c.3053C>A (p.Ala1018Glu)
NM_000053.4(ATP7B):c.3055C>A (p.His1019Asn) rs2139046533
NM_000053.4(ATP7B):c.3057C>T (p.His1019=) rs1352113797
NM_000053.4(ATP7B):c.3058A>T (p.Lys1020Ter)
NM_000053.4(ATP7B):c.3059A>G (p.Lys1020Arg) rs2139046115
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.3060G>T (p.Lys1020Asn) rs1957646412
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3061-12T>G
NM_000053.4(ATP7B):c.3061-14G>A
NM_000053.4(ATP7B):c.3061-1G>A rs780955130
NM_000053.4(ATP7B):c.3061-20G>A
NM_000053.4(ATP7B):c.3061-2A>G rs1957520924
NM_000053.4(ATP7B):c.3061-3C>A
NM_000053.4(ATP7B):c.3061-4G>T
NM_000053.4(ATP7B):c.3061-549_3081del rs1957518966
NM_000053.4(ATP7B):c.3061-6dup
NM_000053.4(ATP7B):c.3061-8T>C
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys) rs949421614
NM_000053.4(ATP7B):c.3066G>A (p.Lys1022=) rs2138960752
NM_000053.4(ATP7B):c.306T>A (p.Tyr102Ter)
NM_000053.4(ATP7B):c.306T>C (p.Tyr102=) rs1342474321
NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala) rs1416453532
NM_000053.4(ATP7B):c.3071_3072del (p.Val1024fs) rs1957519682
NM_000053.4(ATP7B):c.3074T>A (p.Met1025Lys) rs1555286633
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) rs1957518268
NM_000053.4(ATP7B):c.3089G>A (p.Gly1030Asp) rs2138958110
NM_000053.4(ATP7B):c.3089G>T (p.Gly1030Val)
NM_000053.4(ATP7B):c.3090C>T (p.Gly1030=)
NM_000053.4(ATP7B):c.3094A>G (p.Ile1032Val)
NM_000053.4(ATP7B):c.3097A>G (p.Thr1033Ala) rs1555286620
NM_000053.4(ATP7B):c.3099C>T (p.Thr1033=)
NM_000053.4(ATP7B):c.3101dup (p.His1034fs) rs1681704644
NM_000053.4(ATP7B):c.3104G>A (p.Gly1035Asp)
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3105C>A (p.Gly1035=)
NM_000053.4(ATP7B):c.3106G>T (p.Val1036Phe) rs761147984
NM_000053.4(ATP7B):c.3108C>A (p.Val1036=) rs2138956116
NM_000053.4(ATP7B):c.3111del (p.Arg1038fs)
NM_000053.4(ATP7B):c.3112A>C (p.Arg1038=)
NM_000053.4(ATP7B):c.3117C>T (p.Val1039=) rs2138954925
NM_000053.4(ATP7B):c.3118A>T (p.Met1040Leu)
NM_000053.4(ATP7B):c.3122G>C (p.Arg1041Pro)
NM_000053.4(ATP7B):c.3124dup (p.Val1042fs)
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.3133C>G (p.Leu1045Val)
NM_000053.4(ATP7B):c.3138G>A (p.Gly1046=)
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) rs1441316018
NM_000053.4(ATP7B):c.313T>A (p.Ser105Thr)
NM_000053.4(ATP7B):c.3140del (p.Asp1047fs) rs2138953252
NM_000053.4(ATP7B):c.3143T>A (p.Val1048Glu) rs1423091096
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) rs762031690
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3153G>A (p.Leu1051=) rs1198600591
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs) rs1555286522
NM_000053.4(ATP7B):c.315G>A (p.Ser105=)
NM_000053.4(ATP7B):c.3160A>G (p.Arg1054Gly) rs377586515
NM_000053.4(ATP7B):c.3162G>A (p.Arg1054=)
NM_000053.4(ATP7B):c.3163A>T (p.Lys1055Ter) rs1957512345
NM_000053.4(ATP7B):c.3168del (p.Leu1057fs) rs2138950870
NM_000053.4(ATP7B):c.3174T>C (p.Ala1058=) rs2138950443
NM_000053.4(ATP7B):c.3177G>C (p.Val1059=)
NM_000053.4(ATP7B):c.3183del (p.Thr1062fs) rs2138948876
NM_000053.4(ATP7B):c.3185C>T (p.Thr1062Ile) rs763053197
NM_000053.4(ATP7B):c.3186T>C (p.Thr1062=)
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3190dup (p.Glu1064fs)
NM_000053.4(ATP7B):c.3199A>G (p.Ser1067Gly)
NM_000053.4(ATP7B):c.3200G>A (p.Ser1067Asn)
NM_000053.4(ATP7B):c.3201T>G (p.Ser1067Arg) rs2138947313
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3204A>G (p.Glu1068=) rs1957509125
NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg) rs201738147
NM_000053.4(ATP7B):c.3206A>T (p.His1069Leu)
NM_000053.4(ATP7B):c.3207C>T (p.His1069=)
NM_000053.4(ATP7B):c.3210C>T (p.Pro1070=) rs587783310
NM_000053.4(ATP7B):c.3215G>A (p.Gly1072Asp) rs1397311718
NM_000053.4(ATP7B):c.3216C>A (p.Gly1072=) rs971285419
NM_000053.4(ATP7B):c.321G>T (p.Val107=)
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)
NM_000053.4(ATP7B):c.3222A>C (p.Ala1074=)
NM_000053.4(ATP7B):c.3225C>T (p.Val1075=)
NM_000053.4(ATP7B):c.3227C>T (p.Thr1076Ile)
NM_000053.4(ATP7B):c.322T>C (p.Cys108Arg) rs1566603189
NM_000053.4(ATP7B):c.3235T>C (p.Cys1079Arg) rs1376645882
NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe) rs1064797072
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter) rs1957506216
NM_000053.4(ATP7B):c.3237T>G (p.Cys1079Trp) rs1957506216
NM_000053.4(ATP7B):c.3239A>G (p.Lys1080Arg)
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+2T>C rs1593671769
NM_000053.4(ATP7B):c.3243+5G>C
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.3244-1G>A rs2138859417
NM_000053.4(ATP7B):c.3244-20CT[2]
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
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.3247C>T (p.Leu1083Phe) rs1286080173
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.3258_3259del (p.Glu1086fs)
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.3265G>T (p.Gly1089Ter)
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.4(ATP7B):c.3270C>G (p.Tyr1090Ter) rs2138857747
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3276G>A (p.Thr1092=)
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly) rs1022670769
NM_000053.4(ATP7B):c.3282C>A (p.Phe1094Leu) rs1957397703
NM_000053.4(ATP7B):c.3283C>T (p.Gln1095Ter)
NM_000053.4(ATP7B):c.3283del (p.Gln1095fs)
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) rs1555285891
NM_000053.4(ATP7B):c.3284A>G (p.Gln1095Arg)
NM_000053.4(ATP7B):c.3286G>A (p.Ala1096Thr)
NM_000053.4(ATP7B):c.3288A>C (p.Ala1096=)
NM_000053.4(ATP7B):c.3291G>T (p.Val1097=)
NM_000053.4(ATP7B):c.3292C>T (p.Pro1098Ser)
NM_000053.4(ATP7B):c.3294A>C (p.Pro1098=) rs2138855545
NM_000053.4(ATP7B):c.3295_3296dup (p.Cys1100fs)
NM_000053.4(ATP7B):c.3296G>A (p.Gly1099Asp)
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.3304A>T (p.Ile1102Phe) rs2138854011
NM_000053.4(ATP7B):c.3311G>T (p.Cys1104Phe)
NM_000053.4(ATP7B):c.3312C>A (p.Cys1104Ter)
NM_000053.4(ATP7B):c.3313A>T (p.Lys1105Ter) rs1957395448
NM_000053.4(ATP7B):c.3316G>C (p.Val1106Leu) rs541208827
NM_000053.4(ATP7B):c.3316_3317dup (p.Asn1108fs)
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743
NM_000053.4(ATP7B):c.3318C>T (p.Val1106=) rs2138852740
NM_000053.4(ATP7B):c.3320_3322del (p.Ser1107del) rs760772190
NM_000053.4(ATP7B):c.3322A>C (p.Asn1108His)
NM_000053.4(ATP7B):c.3323A>C (p.Asn1108Thr)
NM_000053.4(ATP7B):c.3325G>A (p.Val1109Met)
NM_000053.4(ATP7B):c.3327G>A (p.Val1109=) rs1957394302
NM_000053.4(ATP7B):c.3334A>T (p.Ile1112Phe) rs770624100
NM_000053.4(ATP7B):c.3334_3335del (p.Ile1112fs) rs2138851041
NM_000053.4(ATP7B):c.3336C>T (p.Ile1112=)
NM_000053.4(ATP7B):c.3341C>T (p.Ala1114Val) rs2138850408
NM_000053.4(ATP7B):c.3348T>C (p.Ser1116=)
NM_000053.4(ATP7B):c.334G>T (p.Val112Phe)
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) rs1555285830
NM_000053.4(ATP7B):c.3352C>T (p.Arg1118Cys)
NM_000053.4(ATP7B):c.3353G>A (p.Arg1118His)
NM_000053.4(ATP7B):c.3361_3364del (p.Ser1121fs)
NM_000053.4(ATP7B):c.3373A>G (p.Ser1125Gly)
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.33A>T (p.Arg11Ser)
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3407A>G (p.Glu1136Gly)
NM_000053.4(ATP7B):c.3412+10G>A rs1566467094
NM_000053.4(ATP7B):c.3412+10G>C rs1566467094
NM_000053.4(ATP7B):c.3412+15T>A rs565888819
NM_000053.4(ATP7B):c.3412+1G>A rs1957388064
NM_000053.4(ATP7B):c.3412+1G>C rs1957388064
NM_000053.4(ATP7B):c.3412+20C>T
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>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.3431_3433del (p.Phe1144del) rs1555285393
NM_000053.4(ATP7B):c.3434C>G (p.Ser1145Cys)
NM_000053.4(ATP7B):c.3437T>C (p.Val1146Ala) rs2138787759
NM_000053.4(ATP7B):c.3437_3438del (p.Val1146fs)
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.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3453T>G (p.Arg1151=)
NM_000053.4(ATP7B):c.3454G>A (p.Glu1152Lys)
NM_000053.4(ATP7B):c.3456G>A (p.Glu1152=) rs2138785767
NM_000053.4(ATP7B):c.3458G>A (p.Trp1153Ter)
NM_000053.4(ATP7B):c.3463_3464del (p.Arg1155fs)
NM_000053.4(ATP7B):c.3466C>T (p.Arg1156Cys)
NM_000053.4(ATP7B):c.3472G>C (p.Gly1158Arg)
NM_000053.4(ATP7B):c.3472_3482del (p.Gly1158fs) rs1566461818
NM_000053.4(ATP7B):c.3477A>T (p.Leu1159Phe)
NM_000053.4(ATP7B):c.3484T>C (p.Ser1162Pro) rs2138782354
NM_000053.4(ATP7B):c.3485C>T (p.Ser1162Phe)
NM_000053.4(ATP7B):c.348T>A (p.Ile116=) rs2140105580
NM_000053.4(ATP7B):c.3492T>C (p.Asp1164=)
NM_000053.4(ATP7B):c.3493G>A (p.Val1165Ile)
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser) rs777879359
NM_000053.4(ATP7B):c.3504T>C (p.Ala1168=)
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr) rs1555285311
NM_000053.4(ATP7B):c.3507G>A (p.Met1169Ile)
NM_000053.4(ATP7B):c.3520A>G (p.Met1174Val) rs750407028
NM_000053.4(ATP7B):c.3523A>C (p.Lys1175Gln)
NM_000053.4(ATP7B):c.3523A>T (p.Lys1175Ter) rs995516204
NM_000053.4(ATP7B):c.3524_3528del (p.Lys1175fs)
NM_000053.4(ATP7B):c.3526G>A (p.Gly1176Arg) rs137853279
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3532A>C (p.Thr1178Pro)
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala) rs1387431334
NM_000053.4(ATP7B):c.3534A>G (p.Thr1178=)
NM_000053.4(ATP7B):c.353A>G (p.Asp118Gly)
NM_000053.4(ATP7B):c.3541C>T (p.Leu1181=) rs780648361
NM_000053.4(ATP7B):c.3543_3551delinsTCTGC (p.Val1182fs)
NM_000053.4(ATP7B):c.3545dup (p.Ala1183fs)
NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr) rs2138775370
NM_000053.4(ATP7B):c.3547_3548del (p.Ala1183fs)
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.3550dup (p.Ile1184fs)
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) rs748924063
NM_000053.4(ATP7B):c.3555C>T (p.Asp1185=)
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+1G>T rs184388696
NM_000053.4(ATP7B):c.3556+20T>C rs765755993
NM_000053.4(ATP7B):c.3556+29TC[2] rs575346789
NM_000053.4(ATP7B):c.3556+3A>G
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.3557-1G>A
NM_000053.4(ATP7B):c.3557-1G>C rs2138674428
NM_000053.4(ATP7B):c.3557-4C>T
NM_000053.4(ATP7B):c.3557-7G>T
NM_000053.4(ATP7B):c.3560_3561del (p.Val1187fs) rs2138673853
NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)
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.3567_3568del (p.Cys1189fs)
NM_000053.4(ATP7B):c.3569G>T (p.Gly1190Val)
NM_000053.4(ATP7B):c.356dup (p.Met119fs) rs1952028475
NM_000053.4(ATP7B):c.3575T>C (p.Ile1192Thr)
NM_000053.4(ATP7B):c.3577G>A (p.Ala1193Thr)
NM_000053.4(ATP7B):c.3582C>A (p.Ile1194=) rs761183334
NM_000053.4(ATP7B):c.3583_3584del (p.Ala1195fs)
NM_000053.4(ATP7B):c.3584C>T (p.Ala1195Val) rs2138671758
NM_000053.4(ATP7B):c.3588dup (p.Ala1197fs) rs1957160342
NM_000053.4(ATP7B):c.3594C>G (p.Val1198=)
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) rs786204658
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.3615T>C (p.Ala1205=) rs755324767
NM_000053.4(ATP7B):c.3616G>C (p.Val1206Leu)
NM_000053.4(ATP7B):c.3619C>T (p.His1207Tyr) rs766820841
NM_000053.4(ATP7B):c.3621C>T (p.His1207=)
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3627_3632del (p.Gln1210_Ser1211del) rs2138667313
NM_000053.4(ATP7B):c.3628_3648del (p.Gln1210_Val1216del)
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val) rs1555284582
NM_000053.4(ATP7B):c.3642G>A (p.Val1214=) rs1408214363
NM_000053.4(ATP7B):c.3644A>G (p.Asp1215Gly) rs1555284575
NM_000053.4(ATP7B):c.3648G>A (p.Val1216=)
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3654G>A (p.Leu1218=) rs2138665196
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.365A>G (p.Glu122Gly)
NM_000053.4(ATP7B):c.365_366delinsGGGCTTCGAA (p.Glu122fs)
NM_000053.4(ATP7B):c.3660G>A (p.Thr1220=) rs1253901147
NM_000053.4(ATP7B):c.3660G>C (p.Thr1220=)
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.3664dup (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.3665del (p.Asp1222fs)
NM_000053.4(ATP7B):c.3668_3674del (p.Asn1223fs) rs755012990
NM_000053.4(ATP7B):c.3671G>A (p.Arg1224Gln)
NM_000053.4(ATP7B):c.3678A>C (p.Thr1226=)
NM_000053.4(ATP7B):c.3679G>A (p.Ala1227Thr) rs1957152812
NM_000053.4(ATP7B):c.3681C>T (p.Ala1227=) rs1292714486
NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu) rs200911496
NM_000053.4(ATP7B):c.3691del (p.Ala1231fs) rs2138661836
NM_000053.4(ATP7B):c.3692C>T (p.Ala1231Val)
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer) rs1957151127
NM_000053.4(ATP7B):c.3693delinsTCTGGTACATTAACATTA (p.Ala1231_Thr1232insLeuValHisTer) rs1957151787
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.3699+3A>G rs1459548901
NM_000053.4(ATP7B):c.36del (p.Ala14fs)
NM_000053.4(ATP7B):c.3700-1G>A rs1555284021
NM_000053.4(ATP7B):c.3700-7G>T
NM_000053.4(ATP7B):c.3700-8dup
NM_000053.4(ATP7B):c.3700del rs1957054299
NM_000053.4(ATP7B):c.3704G>A (p.Gly1235Asp)
NM_000053.4(ATP7B):c.3707del (p.Ile1236fs)
NM_000053.4(ATP7B):c.3708C>T (p.Ile1236=) rs1191860285
NM_000053.4(ATP7B):c.3720T>C (p.Phe1240=)
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) rs1555283994
NM_000053.4(ATP7B):c.3726G>A (p.Glu1242=)
NM_000053.4(ATP7B):c.3727G>T (p.Val1243Leu) rs1277243795
NM_000053.4(ATP7B):c.3727del (p.Val1243fs)
NM_000053.4(ATP7B):c.3729G>A (p.Val1243=)
NM_000053.4(ATP7B):c.3731T>C (p.Leu1244Pro) rs2138587892
NM_000053.4(ATP7B):c.3732G>T (p.Leu1244=)
NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala) rs587783316
NM_000053.4(ATP7B):c.3738G>C (p.Ser1246=) rs376369653
NM_000053.4(ATP7B):c.3741C>A (p.His1247Gln) rs767464491
NM_000053.4(ATP7B):c.3741C>T (p.His1247=) rs767464491
NM_000053.4(ATP7B):c.3741_3742del (p.His1247fs)
NM_000053.4(ATP7B):c.3741_3742dup (p.Lys1248fs) rs1462451206
NM_000053.4(ATP7B):c.3750C>T (p.Ala1250=)
NM_000053.4(ATP7B):c.3752A>T (p.Lys1251Met)
NM_000053.4(ATP7B):c.3752del (p.Lys1251fs) rs2138586206
NM_000053.4(ATP7B):c.3753G>A (p.Lys1251=)
NM_000053.4(ATP7B):c.3756C>T (p.Val1252=) rs1395442643
NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter)
NM_000053.4(ATP7B):c.3766_3767dup (p.Gln1256fs) rs1957048711
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3772A>T (p.Lys1258Ter) rs1566444909
NM_000053.4(ATP7B):c.3772_3775dup (p.Gly1259fs)
NM_000053.4(ATP7B):c.3782_3791del (p.Lys1261fs)
NM_000053.4(ATP7B):c.3788C>G (p.Ala1263Gly)
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.3797G>A (p.Gly1266Glu) rs1566444586
NM_000053.4(ATP7B):c.3798G>A (p.Gly1266=) rs1048771325
NM_000053.4(ATP7B):c.379del (p.Glu127fs) rs2140103906
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala) rs1555283916
NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) rs1057516740
NM_000053.4(ATP7B):c.3805dup (p.Val1269fs) rs2138580919
NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile) rs121907990
NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) rs1555283900
NM_000053.4(ATP7B):c.3810T>C (p.Asn1270=)
NM_000053.4(ATP7B):c.3812A>G (p.Asp1271Gly)
NM_000053.4(ATP7B):c.3813C>T (p.Asp1271=)
NM_000053.4(ATP7B):c.3815C>A (p.Ser1272Tyr)
NM_000053.4(ATP7B):c.3816C>T (p.Ser1272=) rs2138579304
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
NM_000053.4(ATP7B):c.3819G>A (p.Pro1273=)
NM_000053.4(ATP7B):c.3819G>C (p.Pro1273=)
NM_000053.4(ATP7B):c.3820G>A (p.Ala1274Thr) rs2138578550
NM_000053.4(ATP7B):c.3821C>T (p.Ala1274Val) rs1555283882
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.3833C>T (p.Ala1278Val) rs1375884723
NM_000053.4(ATP7B):c.3834A>G (p.Ala1278=)
NM_000053.4(ATP7B):c.3835_3862dup (p.Thr1288fs) rs2138574560
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.3836dup (p.Asp1279fs)
NM_000053.4(ATP7B):c.383G>A (p.Gly128Glu)
NM_000053.4(ATP7B):c.383del (p.Gly128fs) rs797045083
NM_000053.4(ATP7B):c.3841G>T (p.Gly1281Cys) rs1957043636
NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val) rs755202606
NM_000053.4(ATP7B):c.3843T>C (p.Gly1281=)
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs) rs1957043255
NM_000053.4(ATP7B):c.3845dup (p.Ala1283fs) rs2138576515
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.3860G>A (p.Gly1287Asp) rs2138574727
NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro) rs1257330000
NM_000053.4(ATP7B):c.3862A>G (p.Thr1288Ala) rs1257330000
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.3870G>C (p.Val1290=) rs2138573250
NM_000053.4(ATP7B):c.3880G>A (p.Ala1294Thr)
NM_000053.4(ATP7B):c.3882A>G (p.Ala1294=) rs771238708
NM_000053.4(ATP7B):c.3883_3890del (p.Ala1295fs) rs2138571104
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) rs1340942427
NM_000053.4(ATP7B):c.3885C>A (p.Ala1295=) rs200597654
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly) rs1593645393
NM_000053.4(ATP7B):c.3889GTC[1] (p.Val1298del) rs2138570625
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs) rs1057517384
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.3895del (p.Ile1300fs) rs1957038706
NM_000053.4(ATP7B):c.3899T>C (p.Ile1300Thr) rs1957038377
NM_000053.4(ATP7B):c.3900C>T (p.Ile1300=)
NM_000053.4(ATP7B):c.3903+17C>G
NM_000053.4(ATP7B):c.3903+6C>A
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.3904-1G>A
NM_000053.4(ATP7B):c.3904-2A>G rs1057517233
NM_000053.4(ATP7B):c.3904-2del rs1957032734
NM_000053.4(ATP7B):c.3904-6C>T rs2138565951
NM_000053.4(ATP7B):c.3912G>A (p.Leu1304=) rs748644391
NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe)
NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe) rs1555283732
NM_000053.4(ATP7B):c.3914_3918dup (p.Val1307fs)
NM_000053.4(ATP7B):c.3915G>C (p.Leu1305=)
NM_000053.4(ATP7B):c.3926C>T (p.Ala1309Val)
NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly) rs1210164486
NM_000053.4(ATP7B):c.3929G>A (p.Ser1310Asn)
NM_000053.4(ATP7B):c.3935_3936del (p.His1312fs)
NM_000053.4(ATP7B):c.3936C>T (p.His1312=) rs1215843572
NM_000053.4(ATP7B):c.3938T>C (p.Leu1313Pro)
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs) rs1057516227
NM_000053.4(ATP7B):c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu) rs2138562773
NM_000053.4(ATP7B):c.3948del (p.Thr1317fs) rs1057516228
NM_000053.4(ATP7B):c.3951T>C (p.Thr1317=)
NM_000053.4(ATP7B):c.3952G>C (p.Val1318Leu)
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.3955C>G (p.Arg1319Gly)
NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly) rs2138561490
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser) rs778732681
NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs) rs2138560807
NM_000053.4(ATP7B):c.3965G>A (p.Arg1322His) rs753330854
NM_000053.4(ATP7B):c.3965G>C (p.Arg1322Pro)
NM_000053.4(ATP7B):c.3967A>G (p.Ile1323Val)
NM_000053.4(ATP7B):c.3969C>T (p.Ile1323=)
NM_000053.4(ATP7B):c.3971A>C (p.Asn1324Thr) rs760285767
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser) rs760285767
NM_000053.4(ATP7B):c.3974del (p.Leu1325fs) rs1957027467
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.3980T>C (p.Leu1327Pro) rs2138559197
NM_000053.4(ATP7B):c.3982G>A (p.Ala1328Thr) rs1333619338
NM_000053.4(ATP7B):c.3984A>G (p.Ala1328=) rs2138558760
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) rs1566441447
NM_000053.4(ATP7B):c.3996C>T (p.Asn1332=) rs2138558236
NM_000053.4(ATP7B):c.3999G>C (p.Leu1333=)
NM_000053.4(ATP7B):c.4006del (p.Ile1336fs) rs1555283564
NM_000053.4(ATP7B):c.4007T>C (p.Ile1336Thr)
NM_000053.4(ATP7B):c.4011C>A (p.Pro1337=)
NM_000053.4(ATP7B):c.4011C>T (p.Pro1337=) rs1957025823
NM_000053.4(ATP7B):c.4011del (p.Ile1338fs)
NM_000053.4(ATP7B):c.4012A>G (p.Ile1338Val)
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+1G>A
NM_000053.4(ATP7B):c.4021+3dup
NM_000053.4(ATP7B):c.4021+5G>C
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.4021G>A (p.Gly1341Ser) rs587783317
NM_000053.4(ATP7B):c.4022-10dup
NM_000053.4(ATP7B):c.4022-13C>A
NM_000053.4(ATP7B):c.4022-13C>T
NM_000053.4(ATP7B):c.4022-159G>C rs2282059
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.4022-2A>C rs1555282816
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.4022G>T (p.Gly1341Val) rs779494870
NM_000053.4(ATP7B):c.4027_4029dup (p.Phe1343_Met1344insPhe)
NM_000053.4(ATP7B):c.4029C>T (p.Phe1343=) rs2138460901
NM_000053.4(ATP7B):c.4036A>G (p.Ile1346Val)
NM_000053.4(ATP7B):c.404C>G (p.Ser135Ter) rs2140103116
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.4057T>C (p.Trp1353Arg) rs1160679283
NM_000053.4(ATP7B):c.4060del (p.Met1354fs)
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val) rs1305262063
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.4076_4077delinsAT (p.Met1359Asn)
NM_000053.4(ATP7B):c.4080A>G (p.Ala1360=) rs1956913934
NM_000053.4(ATP7B):c.4084T>A (p.Ser1362Thr)
NM_000053.4(ATP7B):c.4084T>G (p.Ser1362Ala)
NM_000053.4(ATP7B):c.4086C>G (p.Ser1362=) rs1240143006
NM_000053.4(ATP7B):c.4086C>T (p.Ser1362=)
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
NM_000053.4(ATP7B):c.408G>A (p.Arg136=)
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.4093dup (p.Ser1365fs)
NM_000053.4(ATP7B):c.4094C>T (p.Ser1365Phe)
NM_000053.4(ATP7B):c.40G>A (p.Ala14Thr)
NM_000053.4(ATP7B):c.4101G>A (p.Val1367=) rs2138454260
NM_000053.4(ATP7B):c.4104C>T (p.Leu1368=)
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.4(ATP7B):c.4111C>T (p.Leu1371=) rs953317531
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro) rs1444841250
NM_000053.4(ATP7B):c.4112T>G (p.Leu1371Arg) rs1444841250
NM_000053.4(ATP7B):c.4114C>A (p.Gln1372Lys)
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter) rs755584106
NM_000053.4(ATP7B):c.4116G>A (p.Gln1372=)
NM_000053.4(ATP7B):c.4116G>C (p.Gln1372His)
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
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+1G>A
NM_000053.4(ATP7B):c.4124+1G>T
NM_000053.4(ATP7B):c.4124+20G>T
NM_000053.4(ATP7B):c.4124+5G>A rs1321980462
NM_000053.4(ATP7B):c.4124+6T>C rs2138450581
NM_000053.4(ATP7B):c.4124+8C>G rs1459365269
NM_000053.4(ATP7B):c.4124+9C>T
NM_000053.4(ATP7B):c.4124G>C (p.Cys1375Ser) rs1365425480
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.4125-1G>A rs1293549383
NM_000053.4(ATP7B):c.4125-1G>C rs1293549383
NM_000053.4(ATP7B):c.4125-1G>T rs1293549383
NM_000053.4(ATP7B):c.4125-2A>G rs1555282347
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.413T>A (p.Leu138Ter)
NM_000053.4(ATP7B):c.4140C>T (p.Asp1380=)
NM_000053.4(ATP7B):c.4141C>G (p.Leu1381Val)
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.4144G>T (p.Glu1382Ter) rs2138414735
NM_000053.4(ATP7B):c.4145_4148dup (p.Tyr1384fs)
NM_000053.4(ATP7B):c.4152T>G (p.Tyr1384Ter)
NM_000053.4(ATP7B):c.4152dup (p.Glu1385Ter)
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.416dup (p.Ala140fs)
NM_000053.4(ATP7B):c.4174A>G (p.Met1392Val)
NM_000053.4(ATP7B):c.4174A>T (p.Met1392Leu)
NM_000053.4(ATP7B):c.4181C>T (p.Pro1394Leu) rs1041361346
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.4187C>T (p.Thr1396Met)
NM_000053.4(ATP7B):c.4192T>A (p.Ser1398Thr) rs2138408411
NM_000053.4(ATP7B):c.4194C>A (p.Ser1398=)
NM_000053.4(ATP7B):c.4194C>T (p.Ser1398=) rs2138407679
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter) rs2138407151
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs) rs886041336
NM_000053.4(ATP7B):c.4198del (p.Val1400fs)
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.4229G>A (p.Trp1410Ter)
NM_000053.4(ATP7B):c.4230G>A (p.Trp1410Ter)
NM_000053.4(ATP7B):c.4231C>G (p.Arg1411Gly)
NM_000053.4(ATP7B):c.4236C>T (p.Asp1412=) rs2138401838
NM_000053.4(ATP7B):c.4238_4245del (p.Ser1413fs)
NM_000053.4(ATP7B):c.4239C>T (p.Ser1413=)
NM_000053.4(ATP7B):c.4242del (p.Arg1415fs) rs1057517191
NM_000053.4(ATP7B):c.4248C>A (p.Ala1416=)
NM_000053.4(ATP7B):c.4254A>G (p.Pro1418=)
NM_000053.4(ATP7B):c.4258dup (p.Asp1420fs) rs1956866547
NM_000053.4(ATP7B):c.4263G>A (p.Gln1421=) rs779103007
NM_000053.4(ATP7B):c.4268G>A (p.Ser1423Asn) rs755388647
NM_000053.4(ATP7B):c.4273G>A (p.Val1425Ile)
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.4280A>G (p.Gln1427Arg)
NM_000053.4(ATP7B):c.4283T>C (p.Val1428Ala)
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) rs1555282191
NM_000053.4(ATP7B):c.4284G>A (p.Val1428=)
NM_000053.4(ATP7B):c.4286C>T (p.Ser1429Leu) rs1956864058
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.4299del (p.Thr1434fs)
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.4306G>A (p.Asp1436Asn)
NM_000053.4(ATP7B):c.4314A>G (p.Pro1438=)
NM_000053.4(ATP7B):c.4315T>C (p.Ser1439Pro) rs1454806333
NM_000053.4(ATP7B):c.4316C>G (p.Ser1439Cys)
NM_000053.4(ATP7B):c.4318C>A (p.Arg1440=)
NM_000053.4(ATP7B):c.431T>C (p.Val144Ala)
NM_000053.4(ATP7B):c.4323C>T (p.His1441=) rs1163407442
NM_000053.4(ATP7B):c.4325del (p.Ser1442fs) rs774744497
NM_000053.4(ATP7B):c.4327G>A (p.Ala1443Thr)
NM_000053.4(ATP7B):c.4327G>T (p.Ala1443Ser) rs764383437
NM_000053.4(ATP7B):c.432G>T (p.Val144=) rs2140102093
NM_000053.4(ATP7B):c.432_434del (p.Val145del) rs1555296674
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.4344T>C (p.Asp1448=) rs2138388314
NM_000053.4(ATP7B):c.4347G>A (p.Gly1449=)
NM_000053.4(ATP7B):c.4348G>A (p.Asp1450Asn)
NM_000053.4(ATP7B):c.4354_4357dup (p.Ser1453fs)
NM_000053.4(ATP7B):c.4355G>A (p.Trp1452Ter)
NM_000053.4(ATP7B):c.4356G>A (p.Trp1452Ter)
NM_000053.4(ATP7B):c.436_1708-958del
NM_000053.4(ATP7B):c.4371T>C (p.Asn1457=) rs1237211954
NM_000053.4(ATP7B):c.4373del (p.Gly1458fs)
NM_000053.4(ATP7B):c.4374_4375del (p.Arg1459fs) rs2138386032
NM_000053.4(ATP7B):c.4379A>G (p.Asp1460Gly) rs1593633844
NM_000053.4(ATP7B):c.437A>G (p.Lys146Arg)
NM_000053.4(ATP7B):c.4380T>C (p.Asp1460=)
NM_000053.4(ATP7B):c.4386G>A (p.Glu1462=) rs1386711112
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.4389G>A (p.Gln1463=)
NM_000053.4(ATP7B):c.4392C>T (p.Tyr1464=)
NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg)
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.447_452delinsC (p.Glu150fs)
NM_000053.4(ATP7B):c.449A>C (p.Glu150Ala)
NM_000053.4(ATP7B):c.453dup (p.Met152fs)
NM_000053.4(ATP7B):c.459C>A (p.Thr153=) rs1009053966
NM_000053.4(ATP7B):c.462C>A (p.Cys154Ter)
NM_000053.4(ATP7B):c.462C>T (p.Cys154=) rs771654032
NM_000053.4(ATP7B):c.464A>G (p.Gln155Arg)
NM_000053.4(ATP7B):c.465G>A (p.Gln155=) rs1279878457
NM_000053.4(ATP7B):c.465_466insCCTGTGCA (p.Ser156fs) rs2140100738
NM_000053.4(ATP7B):c.46C>A (p.Arg16=) rs1593892536
NM_000053.4(ATP7B):c.46C>G (p.Arg16Gly)
NM_000053.4(ATP7B):c.477C>T (p.Ser159=)
NM_000053.4(ATP7B):c.482_483delinsA (p.Ile161fs)
NM_000053.4(ATP7B):c.483T>C (p.Ile161=) rs2140100275
NM_000053.4(ATP7B):c.486A>C (p.Glu162Asp)
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.501A>T (p.Lys167Asn)
NM_000053.4(ATP7B):c.502C>T (p.Leu168=) rs2140099534
NM_000053.4(ATP7B):c.505C>T (p.Gln169Ter) rs1952020122
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+17del
NM_000053.4(ATP7B):c.51+20G>A
NM_000053.4(ATP7B):c.51+2T>C
NM_000053.4(ATP7B):c.51+2T>G
NM_000053.4(ATP7B):c.510A>C (p.Gly170=) rs2140099250
NM_000053.4(ATP7B):c.512T>C (p.Val171Ala)
NM_000053.4(ATP7B):c.51dup rs1954023351
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.52-1G>A
NM_000053.4(ATP7B):c.52-2A>G
NM_000053.4(ATP7B):c.52-3dup
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.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525del (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.525dup (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.528C>T (p.Val176=) rs2140098632
NM_000053.4(ATP7B):c.528del (p.Ser177fs) rs2140098691
NM_000053.4(ATP7B):c.52dup (p.Ile18fs) rs2140117236
NM_000053.4(ATP7B):c.530C>T (p.Ser177Leu)
NM_000053.4(ATP7B):c.531_535del (p.Leu178fs)
NM_000053.4(ATP7B):c.532_535del (p.Leu178fs) rs1952018459
NM_000053.4(ATP7B):c.533_534del (p.Leu178fs)
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.552C>T (p.Val184=)
NM_000053.4(ATP7B):c.555C>G (p.Ile185Met)
NM_000053.4(ATP7B):c.556A>G (p.Thr186Ala)
NM_000053.4(ATP7B):c.560_561del (p.Tyr187fs) rs2140096946
NM_000053.4(ATP7B):c.560_561insCT (p.Gln188fs) rs2140096995
NM_000053.4(ATP7B):c.561T>C (p.Tyr187=) rs1162659137
NM_000053.4(ATP7B):c.561_563del (p.Tyr187_Gln188delinsTer) rs2140096745
NM_000053.4(ATP7B):c.564G>A (p.Gln188=)
NM_000053.4(ATP7B):c.567T>G (p.Pro189=)
NM_000053.4(ATP7B):c.570T>A (p.Tyr190Ter)
NM_000053.4(ATP7B):c.570T>C (p.Tyr190=) rs2140096468
NM_000053.4(ATP7B):c.579G>A (p.Gln193=)
NM_000053.4(ATP7B):c.579G>C (p.Gln193His)
NM_000053.4(ATP7B):c.57A>G (p.Leu19=)
NM_000053.4(ATP7B):c.580C>T (p.Pro194Ser)
NM_000053.4(ATP7B):c.582C>G (p.Pro194=) rs780671732
NM_000053.4(ATP7B):c.590_591del (p.Leu197fs)
NM_000053.4(ATP7B):c.595G>T (p.Asp199Tyr)
NM_000053.4(ATP7B):c.599A>G (p.His200Arg)
NM_000053.4(ATP7B):c.600T>C (p.His200=) rs2140095470
NM_000053.4(ATP7B):c.604A>G (p.Asn202Asp) rs1952013968
NM_000053.4(ATP7B):c.60T>G (p.Ser20=)
NM_000053.4(ATP7B):c.611T>C (p.Met204Thr)
NM_000053.4(ATP7B):c.613G>A (p.Gly205Arg) rs528587507
NM_000053.4(ATP7B):c.618T>A (p.Phe206Leu) rs764353593
NM_000053.4(ATP7B):c.62A>T (p.Lys21Met)
NM_000053.4(ATP7B):c.633G>A (p.Lys211=)
NM_000053.4(ATP7B):c.649T>C (p.Leu217=)
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter) rs1555296472
NM_000053.4(ATP7B):c.663A>C (p.Pro221=)
NM_000053.4(ATP7B):c.664A>C (p.Ile222Leu)
NM_000053.4(ATP7B):c.672T>C (p.Ile224=)
NM_000053.4(ATP7B):c.676_677del (p.Arg226fs)
NM_000053.4(ATP7B):c.677G>A (p.Arg226Gln)
NM_000053.4(ATP7B):c.678G>A (p.Arg226=) rs2140093004
NM_000053.4(ATP7B):c.678G>T (p.Arg226=)
NM_000053.4(ATP7B):c.678del (p.Leu227fs)
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.694C>T (p.Pro232Ser)
NM_000053.4(ATP7B):c.697A>G (p.Lys233Glu)
NM_000053.4(ATP7B):c.697_698del (p.Lys233fs) rs1023530194
NM_000053.4(ATP7B):c.702dup (p.Pro235fs)
NM_000053.4(ATP7B):c.703C>G (p.Pro235Ala) rs2140092373
NM_000053.4(ATP7B):c.71del (p.Leu24fs)
NM_000053.4(ATP7B):c.721C>T (p.Gln241Ter) rs2140091906
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter) rs1555296414
NM_000053.4(ATP7B):c.744C>T (p.Thr248=) rs2140091512
NM_000053.4(ATP7B):c.748G>A (p.Gly250Arg)
NM_000053.4(ATP7B):c.763dup (p.His255fs)
NM_000053.4(ATP7B):c.764_775del (p.His255_Thr258del) rs1417723997
NM_000053.4(ATP7B):c.768G>A (p.Val256=) rs2140090759
NM_000053.4(ATP7B):c.768_771dup (p.Thr258fs)
NM_000053.4(ATP7B):c.76A>G (p.Thr26Ala)
NM_000053.4(ATP7B):c.774C>T (p.Thr258=) rs1201589034
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.781C>T (p.Leu261=) rs1593789718
NM_000053.4(ATP7B):c.782_783del (p.Leu261fs)
NM_000053.4(ATP7B):c.783G>A (p.Leu261=)
NM_000053.4(ATP7B):c.789A>G (p.Ile263Met) rs2140089802
NM_000053.4(ATP7B):c.789A>T (p.Ile263=)
NM_000053.4(ATP7B):c.78C>G (p.Thr26=) rs1227368750
NM_000053.4(ATP7B):c.78C>T (p.Thr26=)
NM_000053.4(ATP7B):c.797T>A (p.Met266Lys) rs2140089674
NM_000053.4(ATP7B):c.802_808del (p.Cys268fs) rs1566598496
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter) rs1952004098
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.814G>C (p.Val272Leu)
NM_000053.4(ATP7B):c.816C>T (p.Val272=) rs2140088946
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.835A>G (p.Ile279Val) rs1952002052
NM_000053.4(ATP7B):c.839G>A (p.Gly280Asp) rs1411428188
NM_000053.4(ATP7B):c.839del (p.Gly280fs)
NM_000053.4(ATP7B):c.840C>G (p.Gly280=)
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter) rs1555296356
NM_000053.4(ATP7B):c.841del (p.Gln281fs)
NM_000053.4(ATP7B):c.845del (p.Leu282fs) rs193922111
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.853G>A (p.Val285Ile)
NM_000053.4(ATP7B):c.854T>G (p.Val285Gly) rs1411865806
NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter) rs1183423966
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.869T>C (p.Val290Ala)
NM_000053.4(ATP7B):c.86G>A (p.Trp29Ter) rs577406734
NM_000053.4(ATP7B):c.870_874del (p.Ser291fs)
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.879G>T (p.Glu293Asp) rs1593789326
NM_000053.4(ATP7B):c.881del (p.Asn294fs)
NM_000053.4(ATP7B):c.894A>G (p.Gln298=)
NM_000053.4(ATP7B):c.895G>C (p.Val299Leu) rs146791250
NM_000053.4(ATP7B):c.900G>A (p.Lys300=) rs761251108
NM_000053.4(ATP7B):c.903T>C (p.Tyr301=)
NM_000053.4(ATP7B):c.903T>G (p.Tyr301Ter)
NM_000053.4(ATP7B):c.906C>T (p.Asp302=)
NM_000053.4(ATP7B):c.913T>C (p.Cys305Arg)
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter) rs398123137
NM_000053.4(ATP7B):c.918_931del (p.Ser307fs) rs1951995448
NM_000053.4(ATP7B):c.921C>T (p.Ser307=) rs761888673
NM_000053.4(ATP7B):c.923C>T (p.Pro308Leu) rs1951995908
NM_000053.4(ATP7B):c.92dup (p.Ala32fs) rs1952043099
NM_000053.4(ATP7B):c.943A>G (p.Ile315Val) rs745596221
NM_000053.4(ATP7B):c.945C>T (p.Ile315=) rs776855440
NM_000053.4(ATP7B):c.951_982dup (p.Pro328fs) rs2140080841
NM_000053.4(ATP7B):c.956del (p.Pro319fs) rs753674382
NM_000053.4(ATP7B):c.958C>T (p.Pro320Ser)
NM_000053.4(ATP7B):c.960T>C (p.Pro320=)
NM_000053.4(ATP7B):c.963G>A (p.Gly321=)
NM_000053.4(ATP7B):c.969dup (p.Lys324Ter)
NM_000053.4(ATP7B):c.96A>G (p.Ala32=)
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) rs911589273
NM_000053.4(ATP7B):c.987_988dup (p.Gly330fs)
NM_000053.4(ATP7B):c.989G>A (p.Gly330Glu)
NM_000053.4(ATP7B):c.98T>G (p.Met33Arg)
NM_000053.4(ATP7B):c.993C>G (p.Ala331=)
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter) rs761084829
NM_000053.4(ATP7B):c.995_998dup (p.Ser334fs) rs1951990899
NM_000053.4(ATP7B):c.998G>A (p.Gly333Glu)
NM_000053.4(ATP7B):c.9G>A (p.Glu3=) rs587783322
NM_000053.4(ATP7B):c.9G>C (p.Glu3Asp)
NM_001243182.1(ATP7B):c.-117delinsATCGGC rs1555304632
NM_001406511.1(ATP7B):c.-55+244_-55+258del rs879255499
NM_001406511.1(ATP7B):c.-55+247T>C
NM_001406511.1(ATP7B):c.-55+251C>G
NM_001406511.1(ATP7B):c.-55+258G>A

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