NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
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.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
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.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.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
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.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
NM_000053.4(ATP7B):c.*16G>A
|
rs193922100
|
0.00105
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys)
|
rs115227204
|
0.00086
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
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.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)
|
rs200996053
|
0.00045
|
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.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
NM_000053.4(ATP7B):c.2730G>A (p.Lys910=)
|
rs80145681
|
0.00037
|
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.3368C>T (p.Pro1123Leu)
|
rs146623472
|
0.00026
|
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.3105C>T (p.Gly1035=)
|
rs200324179
|
0.00022
|
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.1628C>G (p.Ala543Gly)
|
rs777096464
|
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.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.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)
|
rs200563529
|
0.00014
|
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)
|
rs139289704
|
0.00013
|
NM_000053.4(ATP7B):c.1544-12T>C
|
rs201167060
|
0.00013
|
NM_000053.4(ATP7B):c.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.1915C>T (p.His639Tyr)
|
rs200728096
|
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.3243+5G>A
|
rs373193482
|
0.00010
|
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)
|
rs368545738
|
0.00010
|
NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val)
|
rs371458882
|
0.00010
|
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu)
|
rs368381292
|
0.00009
|
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=)
|
rs373102009
|
0.00009
|
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly)
|
rs199924281
|
0.00009
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
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_001005918.2(ATP7B):c.-116G>A
|
rs965523214
|
0.00009
|
NM_000053.4(ATP7B):c.2323G>T (p.Ala775Ser)
|
rs535217574
|
0.00008
|
NM_000053.3(ATP7B):c.-122G>A
|
rs886050311
|
0.00007
|
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu)
|
rs771789585
|
0.00007
|
NM_000053.4(ATP7B):c.1947-4C>T
|
rs74904335
|
0.00007
|
NM_000053.4(ATP7B):c.2806T>G (p.Leu936Val)
|
rs367855110
|
0.00007
|
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.1351G>A (p.Gly451Ser)
|
rs186300062
|
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.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.3671G>T (p.Arg1224Leu)
|
rs532177115
|
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.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.1285+5G>T
|
rs370579582
|
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.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.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.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.2763T>C (p.Ser921=)
|
rs1052485948
|
0.00004
|
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)
|
rs182659444
|
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.4215C>T (p.Gly1405=)
|
rs767721448
|
0.00004
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
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.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.2300C>T (p.Pro767Leu)
|
rs776668666
|
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.3106G>A (p.Val1036Ile)
|
rs761147984
|
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.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.3589G>A (p.Ala1197Thr)
|
rs758025913
|
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.946G>A (p.Glu316Lys)
|
rs768818151
|
0.00003
|
NM_000053.4(ATP7B):c.*111G>A
|
rs546262455
|
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.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.1460C>T (p.Pro487Leu)
|
rs767312670
|
0.00002
|
NM_000053.4(ATP7B):c.1726G>A (p.Ala576Thr)
|
rs747638528
|
0.00002
|
NM_000053.4(ATP7B):c.1820A>G (p.Lys607Arg)
|
rs775080615
|
0.00002
|
NM_000053.4(ATP7B):c.1869+20A>G
|
rs566255910
|
0.00002
|
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)
|
rs1555291801
|
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.2374C>T (p.Leu792=)
|
rs757244072
|
0.00002
|
NM_000053.4(ATP7B):c.2575+5G>C
|
rs551030054
|
0.00002
|
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)
|
rs777791532
|
0.00002
|
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)
|
rs749085322
|
0.00002
|
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=)
|
rs761183334
|
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.389C>G (p.Ala130Gly)
|
rs753045361
|
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.588C>A (p.Asp196Glu)
|
rs756718353
|
0.00002
|
NM_000053.4(ATP7B):c.632A>G (p.Lys211Arg)
|
rs1314321927
|
0.00002
|
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)
|
rs749626601
|
0.00002
|
NM_000053.4(ATP7B):c.866A>C (p.Gln289Pro)
|
rs751053970
|
0.00002
|
NM_000053.4(ATP7B):c.*34G>A
|
rs763552108
|
0.00001
|
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu)
|
rs201855906
|
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.1182G>C (p.Leu394Phe)
|
rs201874048
|
0.00001
|
NM_000053.4(ATP7B):c.1187A>G (p.Glu396Gly)
|
rs752745159
|
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.157C>T (p.Pro53Ser)
|
rs751956663
|
0.00001
|
NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser)
|
rs778475094
|
0.00001
|
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)
|
rs375689672
|
0.00001
|
NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr)
|
rs377670877
|
0.00001
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)
|
rs372436901
|
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.2095T>A (p.Phe699Ile)
|
rs749972036
|
0.00001
|
NM_000053.4(ATP7B):c.20A>G (p.Gln7Arg)
|
rs764340318
|
0.00001
|
NM_000053.4(ATP7B):c.2114T>G (p.Phe705Cys)
|
rs756971846
|
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.2236G>A (p.Val746Ile)
|
rs746531706
|
0.00001
|
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)
|
rs769927137
|
0.00001
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000053.4(ATP7B):c.2320A>G (p.Ile774Val)
|
rs778579276
|
0.00001
|
NM_000053.4(ATP7B):c.2355+4A>G
|
rs776572343
|
0.00001
|
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)
|
rs533967323
|
0.00001
|
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=)
|
rs755237462
|
0.00001
|
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr)
|
rs1017756733
|
0.00001
|
NM_000053.4(ATP7B):c.2551A>G (p.Met851Val)
|
rs758360345
|
0.00001
|
NM_000053.4(ATP7B):c.2575+4A>G
|
rs761060032
|
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.2659G>A (p.Ala887Thr)
|
rs768479687
|
0.00001
|
NM_000053.4(ATP7B):c.265A>G (p.Met89Val)
|
rs372516400
|
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.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.2858A>C (p.Tyr953Ser)
|
rs767877891
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
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.3051G>A (p.Met1017Ile)
|
rs755851188
|
0.00001
|
NM_000053.4(ATP7B):c.3061A>G (p.Ile1021Val)
|
rs776490710
|
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.3118A>C (p.Met1040Leu)
|
rs1957515922
|
0.00001
|
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=)
|
rs1192564410
|
0.00001
|
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)
|
rs534622837
|
0.00001
|
NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro)
|
rs373601229
|
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.3221C>T (p.Ala1074Val)
|
rs1206016866
|
0.00001
|
NM_000053.4(ATP7B):c.3243+4C>T
|
rs779783859
|
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.3550A>G (p.Ile1184Val)
|
rs1057519121
|
0.00001
|
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)
|
rs755817220
|
0.00001
|
NM_000053.4(ATP7B):c.3557-8C>T
|
rs765668065
|
0.00001
|
NM_000053.4(ATP7B):c.3571A>G (p.Met1191Val)
|
rs1566452960
|
0.00001
|
NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val)
|
rs745679410
|
0.00001
|
NM_000053.4(ATP7B):c.35A>T (p.Glu12Val)
|
rs374944498
|
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.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.3741C>G (p.His1247Gln)
|
rs767464491
|
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.3842G>A (p.Gly1281Asp)
|
rs755202606
|
0.00001
|
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)
|
rs373748155
|
0.00001
|
NM_000053.4(ATP7B):c.3874A>G (p.Ile1292Val)
|
rs200718740
|
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.3964C>T (p.Arg1322Cys)
|
rs534984209
|
0.00001
|
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser)
|
rs1131691741
|
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.4030A>C (p.Met1344Leu)
|
rs947156425
|
0.00001
|
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp)
|
rs1305262063
|
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.4102C>G (p.Leu1368Val)
|
rs768467658
|
0.00001
|
NM_000053.4(ATP7B):c.4114C>G (p.Gln1372Glu)
|
rs755584106
|
0.00001
|
NM_000053.4(ATP7B):c.4166A>G (p.His1389Arg)
|
rs1170033995
|
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.4319G>A (p.Arg1440Gln)
|
rs201483366
|
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.44del (p.Ser15fs)
|
rs1192728612
|
0.00001
|
NM_000053.4(ATP7B):c.470G>T (p.Cys157Phe)
|
rs551275663
|
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.548C>T (p.Ala183Val)
|
rs760140568
|
0.00001
|
NM_000053.4(ATP7B):c.609C>T (p.Asp203=)
|
rs781140058
|
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.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.911C>T (p.Ser304Phe)
|
rs571080835
|
0.00001
|
NM_000053.4(ATP7B):c.925G>C (p.Val309Leu)
|
rs551158302
|
0.00001
|
NM_000053.4(ATP7B):c.941C>T (p.Ala314Val)
|
rs768949522
|
0.00001
|
NM_000053.4(ATP7B):c.950C>A (p.Ala317Glu)
|
rs746932888
|
0.00001
|
NM_000053.4(ATP7B):c.968T>C (p.Phe323Ser)
|
rs1186805034
|
0.00001
|
NM_000053.4(ATP7B):c.994G>A (p.Glu332Lys)
|
rs761084829
|
0.00001
|
NM_000053.4(ATP7B):c.999G>T (p.Gly333=)
|
rs371930715
|
0.00001
|
NC_000013.10:g.(?_52538988)_(52585473_?)dup
|
|
|
NM_000053.3(ATP7B):c.-127_-126GC[2][1]
|
rs1322135702
|
|
NM_000053.3(ATP7B):c.-128_-127insGCCGT
|
rs766338038
|
|
NM_000053.4(ATP7B):c.*111G>T
|
rs546262455
|
|
NM_000053.4(ATP7B):c.*190C>T
|
rs115420019
|
|
NM_000053.4(ATP7B):c.*221C>A
|
rs886050305
|
|
NM_000053.4(ATP7B):c.-210A>T
|
|
|
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.1002T>C (p.Ser334=)
|
rs1951990469
|
|
NM_000053.4(ATP7B):c.1013A>G (p.His338Arg)
|
|
|
NM_000053.4(ATP7B):c.1022C>G (p.Ser341Cys)
|
|
|
NM_000053.4(ATP7B):c.1027T>C (p.Ser343Pro)
|
rs2140077796
|
|
NM_000053.4(ATP7B):c.1028C>G (p.Ser343Cys)
|
|
|
NM_000053.4(ATP7B):c.1030C>T (p.His344Tyr)
|
rs2140077548
|
|
NM_000053.4(ATP7B):c.1031A>G (p.His344Arg)
|
|
|
NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser)
|
|
|
NM_000053.4(ATP7B):c.1058A>G (p.Gln353Arg)
|
rs532441558
|
|
NM_000053.4(ATP7B):c.1065G>C (p.Gln355His)
|
|
|
NM_000053.4(ATP7B):c.106A>T (p.Ser36Cys)
|
|
|
NM_000053.4(ATP7B):c.1076G>A (p.Ser359Asn)
|
|
|
NM_000053.4(ATP7B):c.107G>C (p.Ser36Thr)
|
|
|
NM_000053.4(ATP7B):c.1081A>T (p.Thr361Ser)
|
|
|
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.1100G>C (p.Gly367Ala)
|
|
|
NM_000053.4(ATP7B):c.1104G>A (p.Met368Ile)
|
rs1476381647
|
|
NM_000053.4(ATP7B):c.1105A>C (p.Thr369Pro)
|
|
|
NM_000053.4(ATP7B):c.1111G>A (p.Ala371Thr)
|
|
|
NM_000053.4(ATP7B):c.1115C>T (p.Ser372Phe)
|
rs1951982961
|
|
NM_000053.4(ATP7B):c.1138A>C (p.Met380Leu)
|
|
|
NM_000053.4(ATP7B):c.113C>T (p.Ala38Val)
|
rs935963471
|
|
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.1170A>G (p.Ile390Met)
|
|
|
NM_000053.4(ATP7B):c.1171T>C (p.Ser391Pro)
|
|
|
NM_000053.4(ATP7B):c.1174G>T (p.Val392Leu)
|
|
|
NM_000053.4(ATP7B):c.1186G>A (p.Glu396Lys)
|
rs763051801
|
|
NM_000053.4(ATP7B):c.1188A>C (p.Glu396Asp)
|
|
|
NM_000053.4(ATP7B):c.1191G>T (p.Gly397=)
|
rs561017302
|
|
NM_000053.4(ATP7B):c.1192A>G (p.Thr398Ala)
|
|
|
NM_000053.4(ATP7B):c.11A>C (p.Gln4Pro)
|
rs781780227
|
|
NM_000053.4(ATP7B):c.1202T>C (p.Val401Ala)
|
|
|
NM_000053.4(ATP7B):c.1214C>T (p.Pro405Leu)
|
|
|
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr)
|
rs1801243
|
|
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.1247C>T (p.Ala416Val)
|
rs1951971023
|
|
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.1289G>T (p.Ser430Ile)
|
|
|
NM_000053.4(ATP7B):c.1291T>G (p.Cys431Gly)
|
rs145173864
|
|
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser)
|
rs763788226
|
|
NM_000053.4(ATP7B):c.130T>A (p.Tyr44Asn)
|
rs1566605396
|
|
NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys)
|
rs1209726590
|
|
NM_000053.4(ATP7B):c.1354A>T (p.Thr452Ser)
|
|
|
NM_000053.4(ATP7B):c.1381C>T (p.Pro461Ser)
|
|
|
NM_000053.4(ATP7B):c.13G>A (p.Glu5Lys)
|
|
|
NM_000053.4(ATP7B):c.13G>C (p.Glu5Gln)
|
|
|
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.1427C>T (p.Ala476Val)
|
rs1194712970
|
|
NM_000053.4(ATP7B):c.1441T>C (p.Ser481Pro)
|
|
|
NM_000053.4(ATP7B):c.1450G>A (p.Ala484Thr)
|
|
|
NM_000053.4(ATP7B):c.1460C>A (p.Pro487Gln)
|
|
|
NM_000053.4(ATP7B):c.1472T>G (p.Phe491Cys)
|
|
|
NM_000053.4(ATP7B):c.1495T>C (p.Cys499Arg)
|
rs749968753
|
|
NM_000053.4(ATP7B):c.1496G>C (p.Cys499Ser)
|
|
|
NM_000053.4(ATP7B):c.1502C>T (p.Ser501Phe)
|
|
|
NM_000053.4(ATP7B):c.1518A>G (p.Ile506Met)
|
|
|
NM_000053.4(ATP7B):c.1520A>G (p.Glu507Gly)
|
|
|
NM_000053.4(ATP7B):c.1543+15C>G
|
rs1365158305
|
|
NM_000053.4(ATP7B):c.1543+4A>G
|
|
|
NM_000053.4(ATP7B):c.1552T>C (p.Ser518Pro)
|
rs2139897814
|
|
NM_000053.4(ATP7B):c.1568T>C (p.Leu523Ser)
|
|
|
NM_000053.4(ATP7B):c.1582G>A (p.Ala528Thr)
|
|
|
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys)
|
rs375071383
|
|
NM_000053.4(ATP7B):c.1600C>T (p.Pro534Ser)
|
|
|
NM_000053.4(ATP7B):c.1603G>A (p.Glu535Lys)
|
|
|
NM_000053.4(ATP7B):c.160TCT[1] (p.Ser55del)
|
|
|
NM_000053.4(ATP7B):c.1614G>T (p.Gln538His)
|
|
|
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)
|
rs572122562
|
|
NM_000053.4(ATP7B):c.161C>G (p.Ser54Cys)
|
|
|
NM_000053.4(ATP7B):c.1631A>G (p.Gln544Arg)
|
|
|
NM_000053.4(ATP7B):c.1648G>A (p.Gly550Ser)
|
rs964566440
|
|
NM_000053.4(ATP7B):c.1652T>C (p.Phe551Ser)
|
rs773296731
|
|
NM_000053.4(ATP7B):c.1654G>C (p.Glu552Gln)
|
|
|
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.1676A>G (p.Tyr559Cys)
|
rs1266694873
|
|
NM_000053.4(ATP7B):c.169G>A (p.Val57Met)
|
|
|
NM_000053.4(ATP7B):c.1707+2dup
|
rs781531824
|
|
NM_000053.4(ATP7B):c.1708-3C>G
|
rs1593752864
|
|
NM_000053.4(ATP7B):c.1709T>C (p.Ile570Thr)
|
|
|
NM_000053.4(ATP7B):c.1727C>T (p.Ala576Val)
|
|
|
NM_000053.4(ATP7B):c.1741A>T (p.Asn581Tyr)
|
rs756435919
|
|
NM_000053.4(ATP7B):c.176C>T (p.Thr59Ile)
|
|
|
NM_000053.4(ATP7B):c.1771G>A (p.Gly591Ser)
|
rs1566559224
|
|
NM_000053.4(ATP7B):c.1781A>C (p.Tyr594Ser)
|
|
|
NM_000053.4(ATP7B):c.1781A>G (p.Tyr594Cys)
|
|
|
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.1850A>G (p.Asp617Gly)
|
rs371038011
|
|
NM_000053.4(ATP7B):c.1855A>G (p.Ile619Val)
|
|
|
NM_000053.4(ATP7B):c.1865T>C (p.Ile622Thr)
|
|
|
NM_000053.4(ATP7B):c.1869+18_1869+20del
|
rs758773114
|
|
NM_000053.4(ATP7B):c.1869+4A>T
|
rs2139767595
|
|
NM_000053.4(ATP7B):c.1869G>A (p.Glu623=)
|
rs2139767805
|
|
NM_000053.4(ATP7B):c.1870-5A>G
|
rs2139670020
|
|
NM_000053.4(ATP7B):c.1907C>A (p.Pro636His)
|
rs1593739354
|
|
NM_000053.4(ATP7B):c.1912G>T (p.Ala638Ser)
|
|
|
NM_000053.4(ATP7B):c.1921T>G (p.Leu641Val)
|
|
|
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.1946+3A>G
|
|
|
NM_000053.4(ATP7B):c.1946+5G>A
|
rs2139666211
|
|
NM_000053.4(ATP7B):c.1946+5dup
|
|
|
NM_000053.4(ATP7B):c.1947-5T>C
|
rs1958647927
|
|
NM_000053.4(ATP7B):c.1953G>C (p.Lys651Asn)
|
|
|
NM_000053.4(ATP7B):c.1957T>G (p.Ser653Ala)
|
|
|
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>T (p.Leu655=)
|
rs574041847
|
|
NM_000053.4(ATP7B):c.1979T>A (p.Phe660Tyr)
|
|
|
NM_000053.4(ATP7B):c.199A>G (p.Met67Val)
|
|
|
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.2012T>C (p.Met671Thr)
|
|
|
NM_000053.4(ATP7B):c.2039A>G (p.Gln680Arg)
|
|
|
NM_000053.4(ATP7B):c.203C>G (p.Thr68Ser)
|
|
|
NM_000053.4(ATP7B):c.2040G>C (p.Gln680His)
|
|
|
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val)
|
rs1555291836
|
|
NM_000053.4(ATP7B):c.2053G>A (p.Asp685Asn)
|
|
|
NM_000053.4(ATP7B):c.2057ACA[1] (p.Asn687del)
|
rs770107276
|
|
NM_000053.4(ATP7B):c.2060A>T (p.Asn687Ile)
|
|
|
NM_000053.4(ATP7B):c.2062A>T (p.Ile688Phe)
|
rs1958637494
|
|
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.2078C>A (p.Ser693Tyr)
|
rs1212479289
|
|
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys)
|
rs1212479289
|
|
NM_000053.4(ATP7B):c.2092A>C (p.Ile698Leu)
|
|
|
NM_000053.4(ATP7B):c.2094CTT[1] (p.Phe700del)
|
rs1555291787
|
|
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
|
|
|
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.2122-3C>G
|
rs1593726901
|
|
NM_000053.4(ATP7B):c.2122-3C>T
|
rs1593726901
|
|
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=)
|
rs779988850
|
|
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.2140T>C (p.Phe714Leu)
|
rs1372799442
|
|
NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His)
|
rs1555291272
|
|
NM_000053.4(ATP7B):c.2152G>C (p.Ala718Pro)
|
rs1555291265
|
|
NM_000053.4(ATP7B):c.2156A>G (p.Tyr719Cys)
|
|
|
NM_000053.4(ATP7B):c.215G>A (p.Cys72Tyr)
|
|
|
NM_000053.4(ATP7B):c.2175G>T (p.Arg725Ser)
|
rs61733684
|
|
NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys)
|
rs1202766392
|
|
NM_000053.4(ATP7B):c.2194C>T (p.Leu732Phe)
|
rs1958502647
|
|
NM_000053.4(ATP7B):c.2207C>T (p.Ala736Val)
|
|
|
NM_000053.4(ATP7B):c.2212A>C (p.Ser738Arg)
|
|
|
NM_000053.4(ATP7B):c.2215A>G (p.Ile739Val)
|
|
|
NM_000053.4(ATP7B):c.2222A>C (p.Tyr741Ser)
|
|
|
NM_000053.4(ATP7B):c.2224G>A (p.Val742Ile)
|
rs2139538547
|
|
NM_000053.4(ATP7B):c.2231C>G (p.Ser744Cys)
|
|
|
NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe)
|
rs1958498953
|
|
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=)
|
rs757991922
|
|
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser)
|
rs1555291181
|
|
NM_000053.4(ATP7B):c.2255T>C (p.Val752Ala)
|
|
|
NM_000053.4(ATP7B):c.2261A>G (p.Glu754Gly)
|
|
|
NM_000053.4(ATP7B):c.2275A>T (p.Ser759Cys)
|
rs2139534075
|
|
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)
|
rs766907687
|
|
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=)
|
rs750477816
|
|
NM_000053.4(ATP7B):c.2290T>C (p.Phe764Leu)
|
|
|
NM_000053.4(ATP7B):c.2299C>A (p.Pro767Thr)
|
rs2139531503
|
|
NM_000053.4(ATP7B):c.22A>G (p.Ile8Val)
|
|
|
NM_000053.4(ATP7B):c.2306T>C (p.Met769Thr)
|
|
|
NM_000053.4(ATP7B):c.2314G>A (p.Val772Met)
|
rs554893410
|
|
NM_000053.4(ATP7B):c.2326C>G (p.Leu776Val)
|
rs1217463955
|
|
NM_000053.4(ATP7B):c.2327T>C (p.Leu776Pro)
|
|
|
NM_000053.4(ATP7B):c.2338C>G (p.Leu780Val)
|
rs1593725352
|
|
NM_000053.4(ATP7B):c.2341G>A (p.Glu781Lys)
|
rs1225673619
|
|
NM_000053.4(ATP7B):c.2349G>C (p.Leu783Phe)
|
rs778848412
|
|
NM_000053.4(ATP7B):c.2354A>G (p.Lys785Arg)
|
rs1555291085
|
|
NM_000053.4(ATP7B):c.2355+5C>T
|
|
|
NM_000053.4(ATP7B):c.2356-16del
|
rs1257703465
|
|
NM_000053.4(ATP7B):c.2356-9A>G
|
rs1339073174
|
|
NM_000053.4(ATP7B):c.2359A>C (p.Lys787Gln)
|
|
|
NM_000053.4(ATP7B):c.2364C>T (p.Thr788=)
|
|
|
NM_000053.4(ATP7B):c.2366C>T (p.Ser789Leu)
|
rs1593722956
|
|
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.2387T>A (p.Met796Lys)
|
|
|
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.2413G>A (p.Val805Ile)
|
|
|
NM_000053.4(ATP7B):c.241T>A (p.Ser81Thr)
|
rs1952034021
|
|
NM_000053.4(ATP7B):c.2426G>A (p.Gly809Asp)
|
|
|
NM_000053.4(ATP7B):c.2434A>C (p.Asn812His)
|
|
|
NM_000053.4(ATP7B):c.2435A>G (p.Asn812Ser)
|
|
|
NM_000053.4(ATP7B):c.2447+8_2447+9insAA
|
rs746283578
|
|
NM_000053.4(ATP7B):c.2448-4G>T
|
rs1593697433
|
|
NM_000053.4(ATP7B):c.245A>G (p.Asn82Ser)
|
rs1555296815
|
|
NM_000053.4(ATP7B):c.2469G>C (p.Glu823Asp)
|
rs886050306
|
|
NM_000053.4(ATP7B):c.2473G>A (p.Val825Met)
|
|
|
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.2491G>A (p.Val831Ile)
|
|
|
NM_000053.4(ATP7B):c.2495A>C (p.Lys832Thr)
|
|
|
NM_000053.4(ATP7B):c.2501T>A (p.Val834Asp)
|
|
|
NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu)
|
rs773809011
|
|
NM_000053.4(ATP7B):c.2518C>T (p.Pro840Ser)
|
|
|
NM_000053.4(ATP7B):c.2543G>A (p.Gly848Asp)
|
|
|
NM_000053.4(ATP7B):c.2546A>G (p.Asn849Ser)
|
|
|
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
|
|
|
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
|
rs752634617
|
|
NM_000053.4(ATP7B):c.2581G>A (p.Ala861Thr)
|
|
|
NM_000053.4(ATP7B):c.2588C>T (p.Pro863Leu)
|
|
|
NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly)
|
rs1555288669
|
|
NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu)
|
rs121907994
|
|
NM_000053.4(ATP7B):c.262A>G (p.Ser88Gly)
|
|
|
NM_000053.4(ATP7B):c.2634T>G (p.Asn878Lys)
|
|
|
NM_000053.4(ATP7B):c.2641G>A (p.Gly881Ser)
|
rs2139208285
|
|
NM_000053.4(ATP7B):c.2659G>C (p.Ala887Pro)
|
|
|
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser)
|
rs1455758826
|
|
NM_000053.4(ATP7B):c.2666A>G (p.His889Arg)
|
rs1202275017
|
|
NM_000053.4(ATP7B):c.2666A>T (p.His889Leu)
|
|
|
NM_000053.4(ATP7B):c.2672G>A (p.Gly891Asp)
|
rs483352684
|
|
NM_000053.4(ATP7B):c.2672G>C (p.Gly891Ala)
|
rs483352684
|
|
NM_000053.4(ATP7B):c.2674A>T (p.Asn892Tyr)
|
|
|
NM_000053.4(ATP7B):c.2675A>G (p.Asn892Ser)
|
|
|
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)
|
rs1340729837
|
|
NM_000053.4(ATP7B):c.268_270del (p.Lys90del)
|
rs751970838
|
|
NM_000053.4(ATP7B):c.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.2708T>G (p.Val903Gly)
|
rs1566500467
|
|
NM_000053.4(ATP7B):c.2720A>G (p.Gln907Arg)
|
|
|
NM_000053.4(ATP7B):c.2724G>A (p.Met908Ile)
|
rs2139201407
|
|
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.2752G>A (p.Asp918Asn)
|
rs540935874
|
|
NM_000053.4(ATP7B):c.2753A>C (p.Asp918Ala)
|
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.2759T>G (p.Phe920Cys)
|
|
|
NM_000053.4(ATP7B):c.2768A>G (p.Tyr923Cys)
|
|
|
NM_000053.4(ATP7B):c.2787C>G (p.Ile929Met)
|
rs773527867
|
|
NM_000053.4(ATP7B):c.2792T>C (p.Met931Thr)
|
rs762875224
|
|
NM_000053.4(ATP7B):c.2826C>A (p.Ile942=)
|
rs758712064
|
|
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys)
|
rs28942076
|
|
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.2843G>T (p.Gly948Val)
|
|
|
NM_000053.4(ATP7B):c.2845GTT[1] (p.Val950del)
|
rs1424494639
|
|
NM_000053.4(ATP7B):c.2865+6T>G
|
rs2139185644
|
|
NM_000053.4(ATP7B):c.2873A>G (p.Asn958Ser)
|
|
|
NM_000053.4(ATP7B):c.2875A>G (p.Lys959Glu)
|
|
|
NM_000053.4(ATP7B):c.2876A>T (p.Lys959Met)
|
|
|
NM_000053.4(ATP7B):c.2885C>T (p.Ser962Phe)
|
rs760035704
|
|
NM_000053.4(ATP7B):c.2919G>A (p.Gln973=)
|
rs537498754
|
|
NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe)
|
rs778163447
|
|
NM_000053.4(ATP7B):c.2957C>G (p.Ser986Cys)
|
|
|
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.2980G>T (p.Ala994Ser)
|
rs1555287372
|
|
NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr)
|
rs770782111
|
|
NM_000053.4(ATP7B):c.2989G>A (p.Val997Met)
|
rs1566485134
|
|
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=)
|
rs199581971
|
|
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.3025A>G (p.Ile1009Val)
|
rs2139050369
|
|
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu)
|
rs2139048200
|
|
NM_000053.4(ATP7B):c.3055C>A (p.His1019Asn)
|
rs2139046533
|
|
NM_000053.4(ATP7B):c.3056A>G (p.His1019Arg)
|
|
|
NM_000053.4(ATP7B):c.3060G>T (p.Lys1020Asn)
|
rs1957646412
|
|
NM_000053.4(ATP7B):c.3061-12T>G
|
|
|
NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala)
|
rs1416453532
|
|
NM_000053.4(ATP7B):c.3094A>G (p.Ile1032Val)
|
|
|
NM_000053.4(ATP7B):c.3097A>G (p.Thr1033Ala)
|
rs1555286620
|
|
NM_000053.4(ATP7B):c.3106G>T (p.Val1036Phe)
|
rs761147984
|
|
NM_000053.4(ATP7B):c.3118A>T (p.Met1040Leu)
|
|
|
NM_000053.4(ATP7B):c.3133C>G (p.Leu1045Val)
|
|
|
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)
|
rs1441316018
|
|
NM_000053.4(ATP7B):c.313T>A (p.Ser105Thr)
|
|
|
NM_000053.4(ATP7B):c.3143T>A (p.Val1048Glu)
|
rs1423091096
|
|
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)
|
rs778543794
|
|
NM_000053.4(ATP7B):c.3160A>G (p.Arg1054Gly)
|
rs377586515
|
|
NM_000053.4(ATP7B):c.3185C>T (p.Thr1062Ile)
|
rs763053197
|
|
NM_000053.4(ATP7B):c.3187G>A (p.Ala1063Thr)
|
rs2138948476
|
|
NM_000053.4(ATP7B):c.3199A>G (p.Ser1067Gly)
|
|
|
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)
|
rs1555286478
|
|
NM_000053.4(ATP7B):c.3215G>A (p.Gly1072Asp)
|
rs1397311718
|
|
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)
|
|
|
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.3237T>G (p.Cys1079Trp)
|
rs1957506216
|
|
NM_000053.4(ATP7B):c.3239A>G (p.Lys1080Arg)
|
|
|
NM_000053.4(ATP7B):c.3243+5G>C
|
|
|
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)
|
rs1555285911
|
|
NM_000053.4(ATP7B):c.3266G>T (p.Gly1089Val)
|
|
|
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)
|
rs778825095
|
|
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly)
|
rs1022670769
|
|
NM_000053.4(ATP7B):c.3280_3281insGTAT (p.Phe1094fs)
|
rs1566469148
|
|
NM_000053.4(ATP7B):c.3286G>A (p.Ala1096Thr)
|
|
|
NM_000053.4(ATP7B):c.3292C>T (p.Pro1098Ser)
|
|
|
NM_000053.4(ATP7B):c.3298T>A (p.Cys1100Ser)
|
rs1566468882
|
|
NM_000053.4(ATP7B):c.3298T>C (p.Cys1100Arg)
|
|
|
NM_000053.4(ATP7B):c.3320_3322del (p.Ser1107del)
|
rs760772190
|
|
NM_000053.4(ATP7B):c.3322A>C (p.Asn1108His)
|
|
|
NM_000053.4(ATP7B):c.3323A>C (p.Asn1108Thr)
|
|
|
NM_000053.4(ATP7B):c.3325G>A (p.Val1109Met)
|
|
|
NM_000053.4(ATP7B):c.3329A>C (p.Glu1110Ala)
|
|
|
NM_000053.4(ATP7B):c.3334A>T (p.Ile1112Phe)
|
rs770624100
|
|
NM_000053.4(ATP7B):c.3341C>T (p.Ala1114Val)
|
rs2138850408
|
|
NM_000053.4(ATP7B):c.334G>T (p.Val112Phe)
|
|
|
NM_000053.4(ATP7B):c.3352C>T (p.Arg1118Cys)
|
|
|
NM_000053.4(ATP7B):c.3353G>A (p.Arg1118His)
|
|
|
NM_000053.4(ATP7B):c.3373A>G (p.Ser1125Gly)
|
|
|
NM_000053.4(ATP7B):c.33A>T (p.Arg11Ser)
|
|
|
NM_000053.4(ATP7B):c.3407A>G (p.Glu1136Gly)
|
|
|
NM_000053.4(ATP7B):c.3412+15T>A
|
rs565888819
|
|
NM_000053.4(ATP7B):c.3413A>G (p.Asp1138Gly)
|
|
|
NM_000053.4(ATP7B):c.3418G>A (p.Val1140Ile)
|
|
|
NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del)
|
rs1555285393
|
|
NM_000053.4(ATP7B):c.3434C>G (p.Ser1145Cys)
|
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
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.3454G>A (p.Glu1152Lys)
|
|
|
NM_000053.4(ATP7B):c.3466C>T (p.Arg1156Cys)
|
|
|
NM_000053.4(ATP7B):c.3472G>C (p.Gly1158Arg)
|
|
|
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.3493G>A (p.Val1165Ile)
|
|
|
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser)
|
rs777879359
|
|
NM_000053.4(ATP7B):c.3507G>A (p.Met1169Ile)
|
|
|
NM_000053.4(ATP7B):c.3520A>G (p.Met1174Val)
|
rs750407028
|
|
NM_000053.4(ATP7B):c.3523A>C (p.Lys1175Gln)
|
|
|
NM_000053.4(ATP7B):c.353A>G (p.Asp118Gly)
|
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000053.4(ATP7B):c.3555C>T (p.Asp1185=)
|
|
|
NM_000053.4(ATP7B):c.3556+3A>G
|
|
|
NM_000053.4(ATP7B):c.3569G>T (p.Gly1190Val)
|
|
|
NM_000053.4(ATP7B):c.3575T>C (p.Ile1192Thr)
|
|
|
NM_000053.4(ATP7B):c.3577G>A (p.Ala1193Thr)
|
|
|
NM_000053.4(ATP7B):c.3608C>T (p.Ala1203Val)
|
rs1593652348
|
|
NM_000053.4(ATP7B):c.360C>T (p.Gly120=)
|
rs1952028232
|
|
NM_000053.4(ATP7B):c.3616G>C (p.Val1206Leu)
|
|
|
NM_000053.4(ATP7B):c.3619C>T (p.His1207Tyr)
|
rs766820841
|
|
NM_000053.4(ATP7B):c.3623C>G (p.Thr1208Arg)
|
|
|
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)
|
rs377267217
|
|
NM_000053.4(ATP7B):c.3632G>A (p.Ser1211Asn)
|
rs1157344488
|
|
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val)
|
rs1555284582
|
|
NM_000053.4(ATP7B):c.3644A>G (p.Asp1215Gly)
|
rs1555284575
|
|
NM_000053.4(ATP7B):c.365A>G (p.Glu122Gly)
|
|
|
NM_000053.4(ATP7B):c.3662_3664del (p.Gly1221del)
|
rs886042519
|
|
NM_000053.4(ATP7B):c.3671G>A (p.Arg1224Gln)
|
|
|
NM_000053.4(ATP7B):c.3679G>A (p.Ala1227Thr)
|
rs1957152812
|
|
NM_000053.4(ATP7B):c.367G>T (p.Ala123Ser)
|
rs758769928
|
|
NM_000053.4(ATP7B):c.3680C>A (p.Ala1227Asp)
|
rs1566451314
|
|
NM_000053.4(ATP7B):c.3692C>T (p.Ala1231Val)
|
|
|
NM_000053.4(ATP7B):c.3695_3697del (p.Thr1232_Gln1233delinsLys)
|
rs1957150974
|
|
NM_000053.4(ATP7B):c.3699+3A>G
|
rs1459548901
|
|
NM_000053.4(ATP7B):c.3700-3T>G
|
rs2138592787
|
|
NM_000053.4(ATP7B):c.3727G>T (p.Val1243Leu)
|
rs1277243795
|
|
NM_000053.4(ATP7B):c.3731T>C (p.Leu1244Pro)
|
rs2138587892
|
|
NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala)
|
rs587783316
|
|
NM_000053.4(ATP7B):c.3741C>A (p.His1247Gln)
|
rs767464491
|
|
NM_000053.4(ATP7B):c.3752A>T (p.Lys1251Met)
|
|
|
NM_000053.4(ATP7B):c.3756C>T (p.Val1252=)
|
rs1395442643
|
|
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)
|
rs1555283946
|
|
NM_000053.4(ATP7B):c.3788C>G (p.Ala1263Gly)
|
|
|
NM_000053.4(ATP7B):c.3797G>A (p.Gly1266Glu)
|
rs1566444586
|
|
NM_000053.4(ATP7B):c.3812A>G (p.Asp1271Gly)
|
|
|
NM_000053.4(ATP7B):c.3821C>T (p.Ala1274Val)
|
rs1555283882
|
|
NM_000053.4(ATP7B):c.3824T>C (p.Leu1275Ser)
|
|
|
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)
|
rs1375884723
|
|
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)
|
rs778914828
|
|
NM_000053.4(ATP7B):c.383G>A (p.Gly128Glu)
|
|
|
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.3852_3875del (p.Gly1285_Ile1292del)
|
rs1555283826
|
|
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.3863C>G (p.Thr1288Arg)
|
rs373748155
|
|
NM_000053.4(ATP7B):c.3880G>A (p.Ala1294Thr)
|
|
|
NM_000053.4(ATP7B):c.3899T>C (p.Ile1300Thr)
|
rs1957038377
|
|
NM_000053.4(ATP7B):c.38G>A (p.Gly13Glu)
|
|
|
NM_000053.4(ATP7B):c.3901A>G (p.Arg1301Gly)
|
|
|
NM_000053.4(ATP7B):c.3903+6C>A
|
|
|
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.3932T>G (p.Ile1311Ser)
|
rs2138563688
|
|
NM_000053.4(ATP7B):c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu)
|
rs2138562773
|
|
NM_000053.4(ATP7B):c.3952G>C (p.Val1318Leu)
|
|
|
NM_000053.4(ATP7B):c.3955C>G (p.Arg1319Gly)
|
|
|
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.3971A>C (p.Asn1324Thr)
|
rs760285767
|
|
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.3999G>A (p.Leu1333=)
|
rs186435141
|
|
NM_000053.4(ATP7B):c.4003G>A (p.Gly1335Arg)
|
|
|
NM_000053.4(ATP7B):c.4012A>G (p.Ile1338Val)
|
|
|
NM_000053.4(ATP7B):c.4021+3dup
|
|
|
NM_000053.4(ATP7B):c.4021+5G>C
|
|
|
NM_000053.4(ATP7B):c.4027_4029dup (p.Phe1343_Met1344insPhe)
|
|
|
NM_000053.4(ATP7B):c.4036A>G (p.Ile1346Val)
|
|
|
NM_000053.4(ATP7B):c.4057T>C (p.Trp1353Arg)
|
rs1160679283
|
|
NM_000053.4(ATP7B):c.4058G>C (p.Trp1353Ser)
|
|
|
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.4066T>C (p.Ser1356Pro)
|
rs1555282748
|
|
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)
|
rs557577836
|
|
NM_000053.4(ATP7B):c.4076_4077delinsAT (p.Met1359Asn)
|
|
|
NM_000053.4(ATP7B):c.4084T>A (p.Ser1362Thr)
|
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NM_000053.4(ATP7B):c.4090G>C (p.Val1364Leu)
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rs1566434432
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NM_000053.4(ATP7B):c.4094C>T (p.Ser1365Phe)
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NM_000053.4(ATP7B):c.40G>A (p.Ala14Thr)
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NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu)
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rs1555282678
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NM_000053.4(ATP7B):c.4112T>G (p.Leu1371Arg)
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rs1444841250
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NM_000053.4(ATP7B):c.4114C>A (p.Gln1372Lys)
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NM_000053.4(ATP7B):c.4116G>C (p.Gln1372His)
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NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro)
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rs780811477
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NM_000053.4(ATP7B):c.4124+4A>G
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rs2138450931
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NM_000053.4(ATP7B):c.4124+6T>C
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rs2138450581
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NM_000053.4(ATP7B):c.4124G>C (p.Cys1375Ser)
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rs1365425480
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NM_000053.4(ATP7B):c.4125-1G>A
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rs1293549383
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NM_000053.4(ATP7B):c.4125-2A>G
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rs1555282347
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NM_000053.4(ATP7B):c.4127A>C (p.Tyr1376Ser)
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rs1555282338
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NM_000053.4(ATP7B):c.4141C>G (p.Leu1381Val)
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NM_000053.4(ATP7B):c.4174A>G (p.Met1392Val)
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NM_000053.4(ATP7B):c.4174A>T (p.Met1392Leu)
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NM_000053.4(ATP7B):c.4181C>T (p.Pro1394Leu)
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rs1041361346
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NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=)
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rs368801566
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NM_000053.4(ATP7B):c.4187C>T (p.Thr1396Met)
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NM_000053.4(ATP7B):c.4192T>A (p.Ser1398Thr)
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rs2138408411
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NM_000053.4(ATP7B):c.419C>T (p.Ala140Val)
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NM_000053.4(ATP7B):c.4231C>G (p.Arg1411Gly)
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NM_000053.4(ATP7B):c.424G>C (p.Glu142Gln)
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NM_000053.4(ATP7B):c.4268G>A (p.Ser1423Asn)
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rs755388647
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NM_000053.4(ATP7B):c.4273G>A (p.Val1425Ile)
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NM_000053.4(ATP7B):c.4277G>T (p.Ser1426Ile)
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NM_000053.4(ATP7B):c.4280A>G (p.Gln1427Arg)
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NM_000053.4(ATP7B):c.4282_4285delinsATAA (p.Val1428_Ser1429delinsIleThr)
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rs2138396076
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NM_000053.4(ATP7B):c.4283T>C (p.Val1428Ala)
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NM_000053.4(ATP7B):c.4286C>T (p.Ser1429Leu)
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rs1956864058
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NM_000053.4(ATP7B):c.4290del (p.Ser1431fs)
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rs1555282185
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NM_000053.4(ATP7B):c.4306G>A (p.Asp1436Asn)
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NM_000053.4(ATP7B):c.4315T>C (p.Ser1439Pro)
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rs1454806333
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NM_000053.4(ATP7B):c.4316C>G (p.Ser1439Cys)
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NM_000053.4(ATP7B):c.431T>C (p.Val144Ala)
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NM_000053.4(ATP7B):c.4323C>G (p.His1441Gln)
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NM_000053.4(ATP7B):c.4325del (p.Ser1442fs)
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rs774744497
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NM_000053.4(ATP7B):c.4327G>A (p.Ala1443Thr)
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NM_000053.4(ATP7B):c.4327G>T (p.Ala1443Ser)
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rs764383437
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NM_000053.4(ATP7B):c.432G>T (p.Val144=)
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rs2140102093
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NM_000053.4(ATP7B):c.432_434del (p.Val145del)
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rs1555296674
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NM_000053.4(ATP7B):c.4336dup (p.Asp1446fs)
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rs1555282097
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NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)
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rs1345677703
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NM_000053.4(ATP7B):c.433G>T (p.Val145Phe)
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rs183365083
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NM_000053.4(ATP7B):c.4348G>A (p.Asp1450Asn)
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NM_000053.4(ATP7B):c.4379A>G (p.Asp1460Gly)
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rs1593633844
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NM_000053.4(ATP7B):c.437A>G (p.Lys146Arg)
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NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter)
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rs1392030070
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NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg)
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rs202131204
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NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg)
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NM_000053.4(ATP7B):c.449A>C (p.Glu150Ala)
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NM_000053.4(ATP7B):c.464A>G (p.Gln155Arg)
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NM_000053.4(ATP7B):c.46C>G (p.Arg16Gly)
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NM_000053.4(ATP7B):c.486A>C (p.Glu162Asp)
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NM_000053.4(ATP7B):c.501A>T (p.Lys167Asn)
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NM_000053.4(ATP7B):c.51+3G>A
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rs2140766975
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NM_000053.4(ATP7B):c.51+3G>C
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NM_000053.4(ATP7B):c.512T>C (p.Val171Ala)
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NM_000053.4(ATP7B):c.530C>T (p.Ser177Leu)
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NM_000053.4(ATP7B):c.555C>G (p.Ile185Met)
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NM_000053.4(ATP7B):c.556A>G (p.Thr186Ala)
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NM_000053.4(ATP7B):c.579G>C (p.Gln193His)
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NM_000053.4(ATP7B):c.580C>T (p.Pro194Ser)
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NM_000053.4(ATP7B):c.595G>T (p.Asp199Tyr)
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NM_000053.4(ATP7B):c.599A>G (p.His200Arg)
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NM_000053.4(ATP7B):c.604A>G (p.Asn202Asp)
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rs1952013968
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NM_000053.4(ATP7B):c.611T>C (p.Met204Thr)
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NM_000053.4(ATP7B):c.613G>A (p.Gly205Arg)
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rs528587507
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NM_000053.4(ATP7B):c.618T>A (p.Phe206Leu)
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rs764353593
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NM_000053.4(ATP7B):c.62A>T (p.Lys21Met)
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NM_000053.4(ATP7B):c.664A>C (p.Ile222Leu)
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NM_000053.4(ATP7B):c.677G>A (p.Arg226Gln)
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NM_000053.4(ATP7B):c.690T>C (p.Thr230=)
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rs1033565003
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NM_000053.4(ATP7B):c.694C>T (p.Pro232Ser)
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NM_000053.4(ATP7B):c.697A>G (p.Lys233Glu)
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NM_000053.4(ATP7B):c.703C>G (p.Pro235Ala)
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rs2140092373
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NM_000053.4(ATP7B):c.703_705del (p.Pro235del)
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NM_000053.4(ATP7B):c.71del (p.Leu24fs)
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NM_000053.4(ATP7B):c.748G>A (p.Gly250Arg)
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NM_000053.4(ATP7B):c.764_775del (p.His255_Thr258del)
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rs1417723997
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NM_000053.4(ATP7B):c.76A>G (p.Thr26Ala)
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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.78C>G (p.Thr26=)
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rs1227368750
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NM_000053.4(ATP7B):c.797T>A (p.Met266Lys)
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rs2140089674
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NM_000053.4(ATP7B):c.814G>C (p.Val272Leu)
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NM_000053.4(ATP7B):c.835A>G (p.Ile279Val)
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rs1952002052
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NM_000053.4(ATP7B):c.839G>A (p.Gly280Asp)
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rs1411428188
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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)
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rs1411865806
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NM_000053.4(ATP7B):c.869T>C (p.Val290Ala)
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NM_000053.4(ATP7B):c.879G>T (p.Glu293Asp)
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rs1593789326
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NM_000053.4(ATP7B):c.894A>G (p.Gln298=)
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NM_000053.4(ATP7B):c.895G>C (p.Val299Leu)
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rs146791250
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NM_000053.4(ATP7B):c.913T>C (p.Cys305Arg)
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NM_000053.4(ATP7B):c.914G>A (p.Cys305Tyr)
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NM_000053.4(ATP7B):c.923C>T (p.Pro308Leu)
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rs1951995908
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NM_000053.4(ATP7B):c.943A>G (p.Ile315Val)
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rs745596221
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NM_000053.4(ATP7B):c.958C>T (p.Pro320Ser)
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NM_000053.4(ATP7B):c.989G>A (p.Gly330Glu)
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NM_000053.4(ATP7B):c.98T>G (p.Met33Arg)
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NM_000053.4(ATP7B):c.998G>A (p.Gly333Glu)
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NM_000053.4(ATP7B):c.9G>C (p.Glu3Asp)
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NM_001243182.1(ATP7B):c.-117delinsATCGGC
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rs1555304632
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