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)
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|
|
NM_000053.4(ATP7B):c.3312C>A (p.Cys1104Ter)
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|
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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)
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|
|
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)
|
rs775541743
|
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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)
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|
|
NM_000053.4(ATP7B):c.3323A>C (p.Asn1108Thr)
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NM_000053.4(ATP7B):c.3325G>A (p.Val1109Met)
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NM_000053.4(ATP7B):c.3327G>A (p.Val1109=)
|
rs1957394302
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NM_000053.4(ATP7B):c.3334A>T (p.Ile1112Phe)
|
rs770624100
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|
NM_000053.4(ATP7B):c.3334_3335del (p.Ile1112fs)
|
rs2138851041
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|
NM_000053.4(ATP7B):c.3336C>T (p.Ile1112=)
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NM_000053.4(ATP7B):c.3341C>T (p.Ala1114Val)
|
rs2138850408
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NM_000053.4(ATP7B):c.3348T>C (p.Ser1116=)
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NM_000053.4(ATP7B):c.334G>T (p.Val112Phe)
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NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)
|
rs1555285830
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NM_000053.4(ATP7B):c.3352C>T (p.Arg1118Cys)
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|
|
NM_000053.4(ATP7B):c.3353G>A (p.Arg1118His)
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NM_000053.4(ATP7B):c.3361_3364del (p.Ser1121fs)
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NM_000053.4(ATP7B):c.3373A>G (p.Ser1125Gly)
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|
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NM_000053.4(ATP7B):c.3378C>T (p.His1126=)
|
rs2138847458
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NM_000053.4(ATP7B):c.3379C>T (p.Leu1127=)
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NM_000053.4(ATP7B):c.3381G>C (p.Leu1127=)
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NM_000053.4(ATP7B):c.3390T>C (p.Ala1130=)
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NM_000053.4(ATP7B):c.33A>G (p.Arg11=)
|
rs753613009
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NM_000053.4(ATP7B):c.33A>T (p.Arg11Ser)
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NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)
|
rs137853281
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NM_000053.4(ATP7B):c.3407A>G (p.Glu1136Gly)
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NM_000053.4(ATP7B):c.3412+10G>A
|
rs1566467094
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NM_000053.4(ATP7B):c.3412+10G>C
|
rs1566467094
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NM_000053.4(ATP7B):c.3412+15T>A
|
rs565888819
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NM_000053.4(ATP7B):c.3412+1G>A
|
rs1957388064
|
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NM_000053.4(ATP7B):c.3412+1G>C
|
rs1957388064
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NM_000053.4(ATP7B):c.3412+20C>T
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NM_000053.4(ATP7B):c.3412+7C>G
|
rs748522019
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NM_000053.4(ATP7B):c.3413-10dup
|
rs774844173
|
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NM_000053.4(ATP7B):c.3413-11C>A
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NM_000053.4(ATP7B):c.3413-11C>G
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NM_000053.4(ATP7B):c.3413-12T>C
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NM_000053.4(ATP7B):c.3413-13del
|
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NM_000053.4(ATP7B):c.3413-14C>T
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NM_000053.4(ATP7B):c.3413-16A>G
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NM_000053.4(ATP7B):c.3413-18A>G
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NM_000053.4(ATP7B):c.3413-20C>G
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NM_000053.4(ATP7B):c.3413-20C>T
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NM_000053.4(ATP7B):c.3413-5A>G
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NM_000053.4(ATP7B):c.3413-6G>C
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NM_000053.4(ATP7B):c.3413-9T>C
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NM_000053.4(ATP7B):c.3423C>G (p.Pro1141=)
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|
NM_000053.4(ATP7B):c.3429C>T (p.Thr1143=)
|
rs2138788578
|
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NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del)
|
rs1555285393
|
|
NM_000053.4(ATP7B):c.3434C>G (p.Ser1145Cys)
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|
NM_000053.4(ATP7B):c.3437T>C (p.Val1146Ala)
|
rs2138787759
|
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NM_000053.4(ATP7B):c.3437_3438del (p.Val1146fs)
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|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
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NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)
|
rs1555285380
|
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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=)
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|
NM_000053.4(ATP7B):c.3454G>A (p.Glu1152Lys)
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|
NM_000053.4(ATP7B):c.3456G>A (p.Glu1152=)
|
rs2138785767
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NM_000053.4(ATP7B):c.3458G>A (p.Trp1153Ter)
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|
NM_000053.4(ATP7B):c.3463_3464del (p.Arg1155fs)
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|
NM_000053.4(ATP7B):c.3466C>T (p.Arg1156Cys)
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|
NM_000053.4(ATP7B):c.3472G>C (p.Gly1158Arg)
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|
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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=)
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|
|
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
|
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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)
|
|
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NM_000053.4(ATP7B):c.3523A>T (p.Lys1175Ter)
|
rs995516204
|
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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
|
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NM_000053.4(ATP7B):c.3534A>G (p.Thr1178=)
|
|
|
NM_000053.4(ATP7B):c.353A>G (p.Asp118Gly)
|
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|
NM_000053.4(ATP7B):c.3541C>T (p.Leu1181=)
|
rs780648361
|
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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
|
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|
NM_000053.4(ATP7B):c.3556+15T>A
|
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|
NM_000053.4(ATP7B):c.3556+16G>A
|
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|
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)
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rs786204570
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NM_000053.4(ATP7B):c.781C>T (p.Leu261=)
|
rs1593789718
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NM_000053.4(ATP7B):c.782_783del (p.Leu261fs)
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NM_000053.4(ATP7B):c.783G>A (p.Leu261=)
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NM_000053.4(ATP7B):c.789A>G (p.Ile263Met)
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rs2140089802
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NM_000053.4(ATP7B):c.789A>T (p.Ile263=)
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NM_000053.4(ATP7B):c.78C>G (p.Thr26=)
|
rs1227368750
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NM_000053.4(ATP7B):c.78C>T (p.Thr26=)
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NM_000053.4(ATP7B):c.797T>A (p.Met266Lys)
|
rs2140089674
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NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)
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rs1566598496
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NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)
|
rs1952004098
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NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
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rs572147914
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NM_000053.4(ATP7B):c.814G>C (p.Val272Leu)
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NM_000053.4(ATP7B):c.816C>T (p.Val272=)
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rs2140088946
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NM_000053.4(ATP7B):c.825T>C (p.Ile275=)
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NM_000053.4(ATP7B):c.828A>G (p.Glu276=)
|
rs747012041
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NM_000053.4(ATP7B):c.834T>C (p.Asn278=)
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NM_000053.4(ATP7B):c.835A>G (p.Ile279Val)
|
rs1952002052
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NM_000053.4(ATP7B):c.839G>A (p.Gly280Asp)
|
rs1411428188
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NM_000053.4(ATP7B):c.839del (p.Gly280fs)
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NM_000053.4(ATP7B):c.840C>G (p.Gly280=)
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NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)
|
rs1555296356
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NM_000053.4(ATP7B):c.841del (p.Gln281fs)
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NM_000053.4(ATP7B):c.845del (p.Leu282fs)
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rs193922111
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NM_000053.4(ATP7B):c.847C>T (p.Leu283=)
|
rs2140087571
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NM_000053.4(ATP7B):c.852G>C (p.Gly284=)
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NM_000053.4(ATP7B):c.852G>T (p.Gly284=)
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NM_000053.4(ATP7B):c.853G>A (p.Val285Ile)
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NM_000053.4(ATP7B):c.854T>G (p.Val285Gly)
|
rs1411865806
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NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter)
|
rs1183423966
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NM_000053.4(ATP7B):c.861T>C (p.Ser287=)
|
rs1951999850
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NM_000053.4(ATP7B):c.867A>G (p.Gln289=)
|
rs1194991204
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NM_000053.4(ATP7B):c.869T>C (p.Val290Ala)
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NM_000053.4(ATP7B):c.86G>A (p.Trp29Ter)
|
rs577406734
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|
NM_000053.4(ATP7B):c.870_874del (p.Ser291fs)
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NM_000053.4(ATP7B):c.873C>T (p.Ser291=)
|
rs1951998921
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NM_000053.4(ATP7B):c.874T>C (p.Leu292=)
|
rs752378510
|
|
NM_000053.4(ATP7B):c.876G>A (p.Leu292=)
|
rs2140086171
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|
NM_000053.4(ATP7B):c.879G>A (p.Glu293=)
|
rs1593789326
|
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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=)
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|
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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=)
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NM_000053.4(ATP7B):c.903T>G (p.Tyr301Ter)
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NM_000053.4(ATP7B):c.906C>T (p.Asp302=)
|
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|
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=)
|
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NM_000053.4(ATP7B):c.963G>A (p.Gly321=)
|
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|
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
|
|
|