NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
NM_000052.7(ATP7A):c.4226+11T>C
|
rs200009243
|
0.00383
|
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)
|
rs61742278
|
0.00380
|
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn)
|
rs144655617
|
0.00356
|
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)
|
rs148765730
|
0.00280
|
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)
|
rs146887876
|
0.00117
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala)
|
rs138154934
|
0.00078
|
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr)
|
rs138039591
|
0.00069
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)
|
rs150526992
|
0.00060
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
NM_000052.7(ATP7A):c.3801+6T>C
|
rs181665434
|
0.00048
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)
|
rs201788154
|
0.00039
|
NM_000052.7(ATP7A):c.610+19A>G
|
rs367724628
|
0.00036
|
NM_000052.7(ATP7A):c.864T>C (p.Cys288=)
|
rs142521666
|
0.00036
|
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=)
|
rs140838569
|
0.00028
|
NM_000052.7(ATP7A):c.282G>A (p.Ala94=)
|
rs370700841
|
0.00027
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln)
|
rs782349186
|
0.00025
|
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)
|
rs781786942
|
0.00024
|
NM_000052.7(ATP7A):c.177A>G (p.Pro59=)
|
rs142463642
|
0.00022
|
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)
|
rs372318616
|
0.00020
|
NM_000052.7(ATP7A):c.2607A>G (p.Val869=)
|
rs61053012
|
0.00020
|
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)
|
rs201225704
|
0.00018
|
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)
|
rs372489000
|
0.00018
|
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)
|
rs377714939
|
0.00016
|
NM_000052.7(ATP7A):c.1737A>G (p.Val579=)
|
rs189353691
|
0.00015
|
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu)
|
rs149576827
|
0.00015
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
NM_000052.7(ATP7A):c.3153C>T (p.His1051=)
|
rs142998552
|
0.00014
|
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=)
|
rs141535376
|
0.00013
|
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met)
|
rs149523862
|
0.00012
|
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)
|
rs374162669
|
0.00012
|
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)
|
rs539177302
|
0.00012
|
NM_000052.7(ATP7A):c.3210C>T (p.His1070=)
|
rs185917115
|
0.00012
|
NM_000052.7(ATP7A):c.3659-12C>T
|
rs1012193744
|
0.00011
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)
|
rs201999500
|
0.00009
|
NM_000052.7(ATP7A):c.2407-14G>T
|
rs782184126
|
0.00009
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00009
|
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)
|
rs146392305
|
0.00009
|
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)
|
rs782196306
|
0.00008
|
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr)
|
rs781817601
|
0.00008
|
NM_000052.7(ATP7A):c.1947-3A>G
|
rs782237008
|
0.00008
|
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)
|
rs147848649
|
0.00008
|
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val)
|
rs782351352
|
0.00008
|
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met)
|
rs781844108
|
0.00007
|
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)
|
rs782290331
|
0.00007
|
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp)
|
rs782415705
|
0.00007
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile)
|
rs781873881
|
0.00007
|
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=)
|
rs149841982
|
0.00006
|
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe)
|
rs372898963
|
0.00006
|
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln)
|
rs782729433
|
0.00006
|
NM_000052.7(ATP7A):c.2892T>C (p.Phe964=)
|
rs781832055
|
0.00006
|
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)
|
rs782166627
|
0.00006
|
NM_000052.7(ATP7A):c.493A>G (p.Met165Val)
|
rs782097214
|
0.00006
|
NM_000052.7(ATP7A):c.748A>G (p.Ile250Val)
|
rs1189996419
|
0.00006
|
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser)
|
rs368147403
|
0.00006
|
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=)
|
rs372232940
|
0.00005
|
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=)
|
rs781950759
|
0.00005
|
NM_000052.7(ATP7A):c.1309G>A (p.Asp437Asn)
|
rs781927920
|
0.00005
|
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)
|
rs782076879
|
0.00005
|
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)
|
rs207478437
|
0.00005
|
NM_000052.7(ATP7A):c.1772G>A (p.Gly591Glu)
|
rs782566688
|
0.00005
|
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=)
|
rs781928652
|
0.00005
|
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=)
|
rs782154912
|
0.00005
|
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu)
|
rs782143115
|
0.00005
|
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn)
|
rs1057520234
|
0.00005
|
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn)
|
rs782475540
|
0.00005
|
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=)
|
rs144293453
|
0.00005
|
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)
|
rs781970260
|
0.00005
|
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)
|
rs782682493
|
0.00005
|
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr)
|
rs188836609
|
0.00005
|
NM_000052.7(ATP7A):c.673A>G (p.Met225Val)
|
rs782619990
|
0.00005
|
NM_000052.7(ATP7A):c.1137T>C (p.Thr379=)
|
rs376042813
|
0.00004
|
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)
|
rs369419911
|
0.00004
|
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=)
|
rs139000596
|
0.00004
|
NM_000052.7(ATP7A):c.1377G>A (p.Ser459=)
|
rs377355446
|
0.00004
|
NM_000052.7(ATP7A):c.2172+7G>T
|
rs782433802
|
0.00004
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
NM_000052.7(ATP7A):c.2619C>T (p.Leu873=)
|
rs1307515001
|
0.00004
|
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp)
|
rs188175511
|
0.00004
|
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=)
|
rs369055537
|
0.00004
|
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=)
|
rs1325311308
|
0.00004
|
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val)
|
rs782323741
|
0.00004
|
NM_000052.7(ATP7A):c.4005+19C>A
|
rs1231604254
|
0.00004
|
NM_000052.7(ATP7A):c.4305C>T (p.Ser1435=)
|
rs146052682
|
0.00004
|
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=)
|
rs782587854
|
0.00004
|
NM_000052.7(ATP7A):c.729G>A (p.Lys243=)
|
rs782326318
|
0.00004
|
NM_000052.7(ATP7A):c.765A>G (p.Leu255=)
|
rs781957871
|
0.00004
|
NM_000052.7(ATP7A):c.1103T>C (p.Leu368Ser)
|
rs372780635
|
0.00003
|
NM_000052.7(ATP7A):c.1226G>A (p.Arg409Gln)
|
rs201763950
|
0.00003
|
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly)
|
rs1557232788
|
0.00003
|
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=)
|
rs1297787618
|
0.00003
|
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
|
rs782702847
|
0.00003
|
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp)
|
rs782603364
|
0.00003
|
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)
|
rs139902461
|
0.00003
|
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)
|
rs72554638
|
0.00003
|
NM_000052.7(ATP7A):c.1870-12G>T
|
rs1203434891
|
0.00003
|
NM_000052.7(ATP7A):c.2052T>G (p.Asn684Lys)
|
rs781837620
|
0.00003
|
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg)
|
rs782577253
|
0.00003
|
NM_000052.7(ATP7A):c.2406+15G>C
|
rs782547388
|
0.00003
|
NM_000052.7(ATP7A):c.2406+18G>A
|
rs1243579823
|
0.00003
|
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His)
|
rs782174967
|
0.00003
|
NM_000052.7(ATP7A):c.2680A>G (p.Ile894Val)
|
rs782430502
|
0.00003
|
NM_000052.7(ATP7A):c.3274A>G (p.Ile1092Val)
|
rs782513950
|
0.00003
|
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser)
|
rs782764064
|
0.00003
|
NM_000052.7(ATP7A):c.3500C>G (p.Ala1167Gly)
|
rs782231801
|
0.00003
|
NM_000052.7(ATP7A):c.3515C>T (p.Ala1172Val)
|
rs781866452
|
0.00003
|
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
|
rs1423719687
|
0.00003
|
NM_000052.7(ATP7A):c.4223A>C (p.Lys1408Thr)
|
rs936157944
|
0.00003
|
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys)
|
rs1280037924
|
0.00003
|
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe)
|
rs1189381967
|
0.00003
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)
|
rs782237314
|
0.00003
|
NM_000052.7(ATP7A):c.849T>C (p.Ile283=)
|
rs782773745
|
0.00003
|
NM_000052.7(ATP7A):c.984A>G (p.Pro328=)
|
rs2077657952
|
0.00003
|
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu)
|
rs1557231845
|
0.00002
|
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu)
|
rs782651571
|
0.00002
|
NM_000052.7(ATP7A):c.1172G>C (p.Cys391Ser)
|
rs1557231883
|
0.00002
|
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr)
|
rs1557229686
|
0.00002
|
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro)
|
rs374530062
|
0.00002
|
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile)
|
rs782058395
|
0.00002
|
NM_000052.7(ATP7A):c.1429C>T (p.Pro477Ser)
|
rs879981699
|
0.00002
|
NM_000052.7(ATP7A):c.1455G>T (p.Lys485Asn)
|
rs782083382
|
0.00002
|
NM_000052.7(ATP7A):c.1543+9C>G
|
rs367977602
|
0.00002
|
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)
|
rs781952393
|
0.00002
|
NM_000052.7(ATP7A):c.1749G>A (p.Glu583=)
|
rs375479026
|
0.00002
|
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val)
|
rs782444523
|
0.00002
|
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)
|
rs781959472
|
0.00002
|
NM_000052.7(ATP7A):c.1816A>G (p.Ile606Val)
|
rs781961626
|
0.00002
|
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
|
rs1308442670
|
0.00002
|
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=)
|
rs781957241
|
0.00002
|
NM_000052.7(ATP7A):c.2029C>G (p.His677Asp)
|
rs782761381
|
0.00002
|
NM_000052.7(ATP7A):c.2079C>G (p.Ile693Met)
|
rs782269377
|
0.00002
|
NM_000052.7(ATP7A):c.2107C>T (p.Arg703Cys)
|
rs782555092
|
0.00002
|
NM_000052.7(ATP7A):c.2173-7A>T
|
rs376179410
|
0.00002
|
NM_000052.7(ATP7A):c.2178C>T (p.Phe726=)
|
rs572956005
|
0.00002
|
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)
|
rs782664014
|
0.00002
|
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=)
|
rs1473914623
|
0.00002
|
NM_000052.7(ATP7A):c.2385A>G (p.Arg795=)
|
rs1445955792
|
0.00002
|
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu)
|
rs782602356
|
0.00002
|
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=)
|
rs782315761
|
0.00002
|
NM_000052.7(ATP7A):c.2597A>G (p.His866Arg)
|
rs1264242478
|
0.00002
|
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)
|
rs1427317043
|
0.00002
|
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)
|
rs146119866
|
0.00002
|
NM_000052.7(ATP7A):c.2907C>G (p.Thr969=)
|
rs781835541
|
0.00002
|
NM_000052.7(ATP7A):c.2916+10T>G
|
rs2077902893
|
0.00002
|
NM_000052.7(ATP7A):c.2917-9C>T
|
rs188421674
|
0.00002
|
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met)
|
rs782094358
|
0.00002
|
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile)
|
rs782647620
|
0.00002
|
NM_000052.7(ATP7A):c.3262C>G (p.Leu1088Val)
|
rs782463394
|
0.00002
|
NM_000052.7(ATP7A):c.3294+5A>C
|
rs370596012
|
0.00002
|
NM_000052.7(ATP7A):c.3358A>G (p.Ser1120Gly)
|
rs781914030
|
0.00002
|
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val)
|
rs374154862
|
0.00002
|
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=)
|
rs1179465472
|
0.00002
|
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)
|
rs1557238006
|
0.00002
|
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser)
|
rs782250966
|
0.00002
|
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn)
|
rs1374099672
|
0.00002
|
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
|
rs1385333276
|
0.00002
|
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)
|
rs782428979
|
0.00002
|
NM_000052.7(ATP7A):c.4006-10C>T
|
rs782741784
|
0.00002
|
NM_000052.7(ATP7A):c.4006-7T>C
|
rs1406270253
|
0.00002
|
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg)
|
rs781912153
|
0.00002
|
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr)
|
rs781912401
|
0.00002
|
NM_000052.7(ATP7A):c.4124-17C>T
|
rs371435031
|
0.00002
|
NM_000052.7(ATP7A):c.4227-1G>A
|
rs782283173
|
0.00002
|
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=)
|
rs782346811
|
0.00002
|
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)
|
rs782232632
|
0.00002
|
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)
|
rs782364202
|
0.00002
|
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=)
|
rs1557239138
|
0.00002
|
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr)
|
rs781838499
|
0.00002
|
NM_000052.7(ATP7A):c.588G>A (p.Leu196=)
|
rs782253237
|
0.00002
|
NM_000052.7(ATP7A):c.611-7T>C
|
rs781898993
|
0.00002
|
NM_000052.7(ATP7A):c.6T>C (p.Asp2=)
|
rs951178780
|
0.00002
|
NM_000052.7(ATP7A):c.705A>C (p.Pro235=)
|
rs199608277
|
0.00002
|
NM_000052.7(ATP7A):c.817T>C (p.Tyr273His)
|
rs1557231780
|
0.00002
|
NM_000052.7(ATP7A):c.840T>G (p.Thr280=)
|
rs782713333
|
0.00002
|
NM_000052.7(ATP7A):c.909A>G (p.Gln303=)
|
rs372389715
|
0.00002
|
NM_000052.7(ATP7A):c.1023G>C (p.Gly341=)
|
rs374656309
|
0.00001
|
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr)
|
rs368982547
|
0.00001
|
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser)
|
rs1557231866
|
0.00001
|
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val)
|
rs1349223430
|
0.00001
|
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=)
|
rs147225045
|
0.00001
|
NM_000052.7(ATP7A):c.1209A>G (p.Pro403=)
|
rs782744809
|
0.00001
|
NM_000052.7(ATP7A):c.121-12T>C
|
rs1557231556
|
0.00001
|
NM_000052.7(ATP7A):c.1222A>G (p.Ile408Val)
|
rs782815622
|
0.00001
|
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
|
rs373634671
|
0.00001
|
NM_000052.7(ATP7A):c.1247A>C (p.Asn416Thr)
|
rs1557231909
|
0.00001
|
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser)
|
rs782505393
|
0.00001
|
NM_000052.7(ATP7A):c.1255G>T (p.Val419Phe)
|
rs782635238
|
0.00001
|
NM_000052.7(ATP7A):c.1259A>G (p.Glu420Gly)
|
rs782530774
|
0.00001
|
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly)
|
rs2077660217
|
0.00001
|
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met)
|
rs782018636
|
0.00001
|
NM_000052.7(ATP7A):c.1290G>A (p.Thr430=)
|
rs143036870
|
0.00001
|
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=)
|
rs782148279
|
0.00001
|
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)
|
rs377651753
|
0.00001
|
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
|
rs1227094533
|
0.00001
|
NM_000052.7(ATP7A):c.1337-5A>G
|
rs371146030
|
0.00001
|
NM_000052.7(ATP7A):c.1341G>A (p.Thr447=)
|
rs782292643
|
0.00001
|
NM_000052.7(ATP7A):c.1376C>T (p.Ser459Leu)
|
rs1557232786
|
0.00001
|
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala)
|
rs781964005
|
0.00001
|
NM_000052.7(ATP7A):c.1399A>G (p.Thr467Ala)
|
rs782416233
|
0.00001
|
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr)
|
rs1557231562
|
0.00001
|
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly)
|
rs781834607
|
0.00001
|
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)
|
rs781874593
|
0.00001
|
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala)
|
rs1193696385
|
0.00001
|
NM_000052.7(ATP7A):c.1497C>T (p.Cys499=)
|
rs782495317
|
0.00001
|
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
|
rs1331470313
|
0.00001
|
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
|
rs368355216
|
0.00001
|
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly)
|
rs1557233359
|
0.00001
|
NM_000052.7(ATP7A):c.1590A>G (p.Val530=)
|
rs1557233367
|
0.00001
|
NM_000052.7(ATP7A):c.1602T>C (p.Pro534=)
|
rs1056057247
|
0.00001
|
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln)
|
rs782491733
|
0.00001
|
NM_000052.7(ATP7A):c.168A>G (p.Leu56=)
|
rs782612734
|
0.00001
|
NM_000052.7(ATP7A):c.1707+16T>C
|
rs1557233398
|
0.00001
|
NM_000052.7(ATP7A):c.1708-9C>G
|
rs1557234077
|
0.00001
|
NM_000052.7(ATP7A):c.1714G>A (p.Gly572Arg)
|
rs1569549834
|
0.00001
|
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn)
|
rs371777895
|
0.00001
|
NM_000052.7(ATP7A):c.1811C>T (p.Ala604Val)
|
rs375103934
|
0.00001
|
NM_000052.7(ATP7A):c.1825G>C (p.Asp609His)
|
rs782764596
|
0.00001
|
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu)
|
rs781872960
|
0.00001
|
NM_000052.7(ATP7A):c.1834A>G (p.Ile612Val)
|
rs1318638094
|
0.00001
|
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly)
|
rs782528311
|
0.00001
|
NM_000052.7(ATP7A):c.1876G>C (p.Gly626Arg)
|
rs782396059
|
0.00001
|
NM_000052.7(ATP7A):c.1878T>C (p.Gly626=)
|
rs782299586
|
0.00001
|
NM_000052.7(ATP7A):c.1902G>A (p.Lys634=)
|
rs782315947
|
0.00001
|
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)
|
rs1557234412
|
0.00001
|
NM_000052.7(ATP7A):c.1946+11T>C
|
rs1557234428
|
0.00001
|
NM_000052.7(ATP7A):c.1947-5A>G
|
rs1557234466
|
0.00001
|
NM_000052.7(ATP7A):c.1947-7A>G
|
rs2077824853
|
0.00001
|
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu)
|
rs879254156
|
0.00001
|
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn)
|
rs782629836
|
0.00001
|
NM_000052.7(ATP7A):c.2032T>C (p.Phe678Leu)
|
rs781792854
|
0.00001
|
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile)
|
rs782455461
|
0.00001
|
NM_000052.7(ATP7A):c.204C>T (p.Asp68=)
|
rs1557231573
|
0.00001
|
NM_000052.7(ATP7A):c.2053C>G (p.Gln685Glu)
|
rs1557234510
|
0.00001
|
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys)
|
rs944415019
|
0.00001
|
NM_000052.7(ATP7A):c.2103G>T (p.Leu701=)
|
rs1318545869
|
0.00001
|
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
|
rs2234936
|
0.00001
|
NM_000052.7(ATP7A):c.2142G>A (p.Leu714=)
|
rs782037158
|
0.00001
|
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val)
|
rs1557234537
|
0.00001
|
NM_000052.7(ATP7A):c.2161G>T (p.Val721Leu)
|
rs1557234543
|
0.00001
|
NM_000052.7(ATP7A):c.219T>C (p.Ala73=)
|
rs1557231581
|
0.00001
|
NM_000052.7(ATP7A):c.2209A>G (p.Lys737Glu)
|
rs782240491
|
0.00001
|
NM_000052.7(ATP7A):c.2212G>A (p.Ala738Thr)
|
rs782389012
|
0.00001
|
NM_000052.7(ATP7A):c.2226G>C (p.Lys742Asn)
|
rs782293297
|
0.00001
|
NM_000052.7(ATP7A):c.2253G>A (p.Val751=)
|
rs782375469
|
0.00001
|
NM_000052.7(ATP7A):c.2254C>G (p.Leu752Val)
|
rs1157086859
|
0.00001
|
NM_000052.7(ATP7A):c.2276C>T (p.Ala759Val)
|
rs1557234739
|
0.00001
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)
|
rs2077837721
|
0.00001
|
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp)
|
rs1443260520
|
0.00001
|
NM_000052.7(ATP7A):c.2340C>T (p.Phe780=)
|
rs2077838145
|
0.00001
|
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=)
|
rs1557234754
|
0.00001
|
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val)
|
rs782770209
|
0.00001
|
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val)
|
rs1557234931
|
0.00001
|
NM_000052.7(ATP7A):c.2442A>G (p.Ser814=)
|
rs781953495
|
0.00001
|
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=)
|
rs368261204
|
0.00001
|
NM_000052.7(ATP7A):c.2499-9T>C
|
rs1557235070
|
0.00001
|
NM_000052.7(ATP7A):c.2505A>G (p.Glu835=)
|
rs1420350554
|
0.00001
|
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=)
|
rs781950120
|
0.00001
|
NM_000052.7(ATP7A):c.255T>C (p.Thr85=)
|
rs1557231589
|
0.00001
|
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=)
|
rs1557235088
|
0.00001
|
NM_000052.7(ATP7A):c.2573T>G (p.Val858Gly)
|
rs782094714
|
0.00001
|
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys)
|
rs781892236
|
0.00001
|
NM_000052.7(ATP7A):c.2595A>G (p.Gly865=)
|
rs1557235097
|
0.00001
|
NM_000052.7(ATP7A):c.2627-17C>T
|
rs782200911
|
0.00001
|
NM_000052.7(ATP7A):c.2687A>G (p.Gln896Arg)
|
rs1324162252
|
0.00001
|
NM_000052.7(ATP7A):c.2691C>T (p.Asn897=)
|
rs781928048
|
0.00001
|
NM_000052.7(ATP7A):c.2697A>G (p.Ser899=)
|
rs1557235606
|
0.00001
|
NM_000052.7(ATP7A):c.2712A>C (p.Ala904=)
|
rs1396353749
|
0.00001
|
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile)
|
rs369335432
|
0.00001
|
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=)
|
rs1557235619
|
0.00001
|
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg)
|
rs1557235625
|
0.00001
|
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu)
|
rs782225818
|
0.00001
|
NM_000052.7(ATP7A):c.2846C>A (p.Ser949Tyr)
|
rs782807828
|
0.00001
|
NM_000052.7(ATP7A):c.2865A>G (p.Val955=)
|
rs1557235728
|
0.00001
|
NM_000052.7(ATP7A):c.2909A>G (p.Tyr970Cys)
|
rs1557235740
|
0.00001
|
NM_000052.7(ATP7A):c.2917-7T>C
|
rs376898023
|
0.00001
|
NM_000052.7(ATP7A):c.2923A>G (p.Asn975Asp)
|
rs1557236695
|
0.00001
|
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser)
|
rs1557236698
|
0.00001
|
NM_000052.7(ATP7A):c.2947A>G (p.Thr983Ala)
|
rs1023683992
|
0.00001
|
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln)
|
rs781995242
|
0.00001
|
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala)
|
rs782480109
|
0.00001
|
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val)
|
rs1341604631
|
0.00001
|
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile)
|
rs181435872
|
0.00001
|
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=)
|
rs371089220
|
0.00001
|
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=)
|
rs1057518370
|
0.00001
|
NM_000052.7(ATP7A):c.318A>G (p.Thr106=)
|
rs781851530
|
0.00001
|
NM_000052.7(ATP7A):c.3198C>T (p.Asn1066=)
|
rs2077983590
|
0.00001
|
NM_000052.7(ATP7A):c.3240T>C (p.Ala1080=)
|
rs1557237065
|
0.00001
|
NM_000052.7(ATP7A):c.3294+10T>A
|
rs2077984363
|
0.00001
|
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser)
|
rs782066060
|
0.00001
|
NM_000052.7(ATP7A):c.330C>A (p.Thr110=)
|
rs1557231608
|
0.00001
|
NM_000052.7(ATP7A):c.3396G>T (p.Lys1132Asn)
|
rs782548907
|
0.00001
|
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly)
|
rs782154314
|
0.00001
|
NM_000052.7(ATP7A):c.3428A>G (p.Lys1143Arg)
|
rs782486797
|
0.00001
|
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val)
|
rs371409820
|
0.00001
|
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly)
|
rs1363235909
|
0.00001
|
NM_000052.7(ATP7A):c.3463G>C (p.Glu1155Gln)
|
rs2077996609
|
0.00001
|
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp)
|
rs781907456
|
0.00001
|
NM_000052.7(ATP7A):c.3554G>A (p.Arg1185Gln)
|
rs782435305
|
0.00001
|
NM_000052.7(ATP7A):c.3591C>T (p.Asn1197=)
|
rs1391918882
|
0.00001
|
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile)
|
rs782026169
|
0.00001
|
NM_000052.7(ATP7A):c.3606C>T (p.Phe1202=)
|
rs782173299
|
0.00001
|
NM_000052.7(ATP7A):c.3659-5A>G
|
rs1557238245
|
0.00001
|
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)
|
rs782664232
|
0.00001
|
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=)
|
rs1557238252
|
0.00001
|
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg)
|
rs1557238254
|
0.00001
|
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile)
|
rs962646396
|
0.00001
|
NM_000052.7(ATP7A):c.3802-9A>G
|
rs1557238565
|
0.00001
|
NM_000052.7(ATP7A):c.3885G>A (p.Arg1295=)
|
rs895520660
|
0.00001
|
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile)
|
rs782499160
|
0.00001
|
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu)
|
rs782628250
|
0.00001
|
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=)
|
rs782582761
|
0.00001
|
NM_000052.7(ATP7A):c.3915C>T (p.Asp1305=)
|
rs781872987
|
0.00001
|
NM_000052.7(ATP7A):c.3942G>A (p.Val1314=)
|
rs1569550333
|
0.00001
|
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=)
|
rs1271447006
|
0.00001
|
NM_000052.7(ATP7A):c.4005+10A>G
|
rs782188201
|
0.00001
|
NM_000052.7(ATP7A):c.4006-11T>A
|
rs1325784914
|
0.00001
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln)
|
rs782260602
|
0.00001
|
NM_000052.7(ATP7A):c.4132A>G (p.Met1378Val)
|
rs782161783
|
0.00001
|
NM_000052.7(ATP7A):c.4136C>T (p.Pro1379Leu)
|
rs1557238990
|
0.00001
|
NM_000052.7(ATP7A):c.4152G>A (p.Leu1384=)
|
rs781939808
|
0.00001
|
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu)
|
rs1557231629
|
0.00001
|
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser)
|
rs189818149
|
0.00001
|
NM_000052.7(ATP7A):c.4206T>C (p.Leu1402=)
|
rs782505602
|
0.00001
|
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=)
|
rs2078077936
|
0.00001
|
NM_000052.7(ATP7A):c.4227-12del
|
rs1557239080
|
0.00001
|
NM_000052.7(ATP7A):c.4254T>C (p.Tyr1418=)
|
rs990337633
|
0.00001
|
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
|
rs368091927
|
0.00001
|
NM_000052.7(ATP7A):c.4293T>C (p.Pro1431=)
|
rs1569550372
|
0.00001
|
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg)
|
rs1557239111
|
0.00001
|
NM_000052.7(ATP7A):c.4311T>C (p.His1437=)
|
rs782541211
|
0.00001
|
NM_000052.7(ATP7A):c.4355T>G (p.Leu1452Trp)
|
rs1557239117
|
0.00001
|
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp)
|
rs1457236338
|
0.00001
|
NM_000052.7(ATP7A):c.4375T>C (p.Tyr1459His)
|
rs782272603
|
0.00001
|
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)
|
rs782062633
|
0.00001
|
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His)
|
rs1204475767
|
0.00001
|
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys)
|
rs1557239144
|
0.00001
|
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)
|
rs782799150
|
0.00001
|
NM_000052.7(ATP7A):c.4449C>T (p.Asp1483=)
|
rs1557239148
|
0.00001
|
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=)
|
rs782053901
|
0.00001
|
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu)
|
rs782716555
|
0.00001
|
NM_000052.7(ATP7A):c.488A>G (p.His163Arg)
|
rs1164298315
|
0.00001
|
NM_000052.7(ATP7A):c.498T>C (p.Ala166=)
|
rs782701351
|
0.00001
|
NM_000052.7(ATP7A):c.506G>A (p.Gly169Asp)
|
rs782485590
|
0.00001
|
NM_000052.7(ATP7A):c.513C>T (p.Val171=)
|
rs782643553
|
0.00001
|
NM_000052.7(ATP7A):c.514G>A (p.Val172Met)
|
rs782248978
|
0.00001
|
NM_000052.7(ATP7A):c.531G>A (p.Val177=)
|
rs1557231650
|
0.00001
|
NM_000052.7(ATP7A):c.532G>A (p.Glu178Lys)
|
rs782675275
|
0.00001
|
NM_000052.7(ATP7A):c.548A>G (p.His183Arg)
|
rs1186296000
|
0.00001
|
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro)
|
rs1557231656
|
0.00001
|
NM_000052.7(ATP7A):c.579T>A (p.Ile193=)
|
rs2077652795
|
0.00001
|
NM_000052.7(ATP7A):c.605T>G (p.Ile202Ser)
|
rs1557231670
|
0.00001
|
NM_000052.7(ATP7A):c.611-4C>T
|
rs1287080060
|
0.00001
|
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile)
|
rs1557231734
|
0.00001
|
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys)
|
rs374855698
|
0.00001
|
NM_000052.7(ATP7A):c.807G>A (p.Arg269=)
|
rs868946047
|
0.00001
|
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)
|
rs782146244
|
0.00001
|
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu)
|
rs1039952708
|
0.00001
|
NM_000052.7(ATP7A):c.891T>A (p.Ser297Arg)
|
rs782449900
|
0.00001
|
NM_000052.7(ATP7A):c.933T>C (p.Ser311=)
|
rs782638418
|
0.00001
|
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=)
|
rs1557231829
|
0.00001
|
NC_000023.10:g.(?_77227108)_(77227268_?)del
|
|
|
NC_000023.10:g.(?_77227108)_(77258743_?)del
|
|
|
NC_000023.10:g.(?_77227108)_(77305902_?)dup
|
|
|
NC_000023.10:g.(?_77227129)_(77302077_?)dup
|
|
|
NC_000023.10:g.(?_77243718)_(77245474_?)del
|
|
|
NC_000023.10:g.(?_77243738)_(77302067_?)dup
|
|
|
NC_000023.10:g.(?_77264579)_(77264780_?)dup
|
|
|
NC_000023.10:g.(?_77264589)_(77264770_?)dup
|
|
|
NC_000023.10:g.(?_77264993)_(77268389_?)del
|
|
|
NC_000023.10:g.(?_77266653)_(77268629_?)dup
|
|
|
NC_000023.10:g.(?_77266653)_(77271398_?)dup
|
|
|
NC_000023.10:g.(?_77266663)_(77268619_?)dup
|
|
|
NC_000023.10:g.(?_77270139)_(77271398_?)del
|
|
|
NC_000023.10:g.(?_77270149)_(77305902_?)dup
|
|
|
NC_000023.10:g.(?_77271231)_(77271398_?)del
|
|
|
NC_000023.10:g.(?_77275721)_(77279056_?)del
|
|
|
NC_000023.10:g.(?_77275731)_(77302067_?)dup
|
|
|
NC_000023.10:g.(?_77276422)_(77276596_?)del
|
|
|
NC_000023.10:g.(?_77284727)_(77302087_?)dup
|
|
|
NC_000023.10:g.(?_77298795)_(77302067_?)dup
|
|
|
NC_000023.10:g.(?_77300947)_(77302067_?)del
|
|
|
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val)
|
|
|
NM_000052.7(ATP7A):c.1004T>C (p.Ile335Thr)
|
|
|
NM_000052.7(ATP7A):c.1005A>G (p.Ile335Met)
|
rs2149083240
|
|
NM_000052.7(ATP7A):c.1008G>A (p.Glu336=)
|
|
|
NM_000052.7(ATP7A):c.1017A>T (p.Ser339=)
|
|
|
NM_000052.7(ATP7A):c.1023G>A (p.Gly341=)
|
rs374656309
|
|
NM_000052.7(ATP7A):c.1032A>G (p.Arg344=)
|
|
|
NM_000052.7(ATP7A):c.1037G>T (p.Ser346Ile)
|
|
|
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg)
|
rs2077658544
|
|
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=)
|
|
|
NM_000052.7(ATP7A):c.1052T>A (p.Val351Asp)
|
|
|
NM_000052.7(ATP7A):c.105T>C (p.Gly35=)
|
|
|
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala)
|
rs1557231859
|
|
NM_000052.7(ATP7A):c.1060A>T (p.Thr354Ser)
|
|
|
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=)
|
|
|
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro)
|
|
|
NM_000052.7(ATP7A):c.1070C>T (p.Ser357Phe)
|
|
|
NM_000052.7(ATP7A):c.1074C>T (p.Pro358=)
|
rs2149083275
|
|
NM_000052.7(ATP7A):c.1077del (p.Ser360fs)
|
|
|
NM_000052.7(ATP7A):c.1080C>T (p.Ser360=)
|
|
|
NM_000052.7(ATP7A):c.108G>A (p.Val36=)
|
rs2149073882
|
|
NM_000052.7(ATP7A):c.1108G>A (p.Val370Ile)
|
|
|
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala)
|
rs782616685
|
|
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys)
|
rs2077659011
|
|
NM_000052.7(ATP7A):c.1128A>G (p.Thr376=)
|
|
|
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr)
|
rs1603378831
|
|
NM_000052.7(ATP7A):c.1136C>G (p.Thr379Ser)
|
|
|
NM_000052.7(ATP7A):c.1139_1142delinsGAA (p.Val380fs)
|
|
|
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=)
|
rs2149083320
|
|
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)
|
|
|
NM_000052.7(ATP7A):c.1148T>C (p.Ile383Thr)
|
|
|
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly)
|
|
|
NM_000052.7(ATP7A):c.1154G>A (p.Gly385Asp)
|
|
|
NM_000052.7(ATP7A):c.1157T>G (p.Met386Arg)
|
rs2149083331
|
|
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro)
|
rs1569549600
|
|
NM_000052.7(ATP7A):c.1166A>G (p.Asn389Ser)
|
|
|
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=)
|
rs2149083338
|
|
NM_000052.7(ATP7A):c.1172del (p.Cys391fs)
|
|
|
NM_000052.7(ATP7A):c.1176G>A (p.Val392=)
|
rs2149083343
|
|
NM_000052.7(ATP7A):c.1177C>G (p.Gln393Glu)
|
|
|
NM_000052.7(ATP7A):c.117T>A (p.Ile39=)
|
|
|
NM_000052.7(ATP7A):c.1182T>C (p.Ser394=)
|
rs2149083355
|
|
NM_000052.7(ATP7A):c.1183A>G (p.Ile395Val)
|
|
|
NM_000052.7(ATP7A):c.1184T>C (p.Ile395Thr)
|
|
|
NM_000052.7(ATP7A):c.1190G>C (p.Gly397Ala)
|
|
|
NM_000052.7(ATP7A):c.1191T>A (p.Gly397=)
|
rs2149083372
|
|
NM_000052.7(ATP7A):c.120+14T>C
|
|
|
NM_000052.7(ATP7A):c.120+15G>A
|
|
|
NM_000052.7(ATP7A):c.120+20C>T
|
|
|
NM_000052.7(ATP7A):c.120+7T>C
|
rs2149073895
|
|
NM_000052.7(ATP7A):c.120+8A>T
|
|
|
NM_000052.7(ATP7A):c.1200A>G (p.Ser400=)
|
|
|
NM_000052.7(ATP7A):c.1207C>T (p.Pro403Ser)
|
|
|
NM_000052.7(ATP7A):c.120G>A (p.Lys40=)
|
|
|
NM_000052.7(ATP7A):c.121-12T>G
|
|
|
NM_000052.7(ATP7A):c.121-14T>G
|
|
|
NM_000052.7(ATP7A):c.121-2del
|
rs1287511385
|
|
NM_000052.7(ATP7A):c.1211G>T (p.Gly404Val)
|
|
|
NM_000052.7(ATP7A):c.1220C>T (p.Ser407Phe)
|
|
|
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
|
rs72554636
|
|
NM_000052.7(ATP7A):c.1238C>T (p.Ala413Val)
|
|
|
NM_000052.7(ATP7A):c.1242T>G (p.Asn414Lys)
|
|
|
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)
|
rs781846400
|
|
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)
|
|
|
NM_000052.7(ATP7A):c.1257T>G (p.Val419=)
|
|
|
NM_000052.7(ATP7A):c.1257_1267del (p.Glu420fs)
|
|
|
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)
|
|
|
NM_000052.7(ATP7A):c.126A>G (p.Ser42=)
|
rs2149082519
|
|
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer)
|
rs2077660153
|
|
NM_000052.7(ATP7A):c.127C>T (p.Leu43=)
|
|
|
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
|
|
|
NM_000052.7(ATP7A):c.1296_1297del (p.Gly433fs)
|
|
|
NM_000052.7(ATP7A):c.1297G>A (p.Gly433Arg)
|
|
|
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=)
|
|
|
NM_000052.7(ATP7A):c.1303A>G (p.Ile435Val)
|
|
|
NM_000052.7(ATP7A):c.1306G>C (p.Glu436Gln)
|
|
|
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=)
|
rs2149083467
|
|
NM_000052.7(ATP7A):c.1334C>T (p.Ser445Leu)
|
rs2149083480
|
|
NM_000052.7(ATP7A):c.1336+10A>G
|
|
|
NM_000052.7(ATP7A):c.1336+3A>G
|
|
|
NM_000052.7(ATP7A):c.1336+7dup
|
|
|
NM_000052.7(ATP7A):c.1336+9C>A
|
|
|
NM_000052.7(ATP7A):c.1337-16T>A
|
|
|
NM_000052.7(ATP7A):c.1337-17C>G
|
|
|
NM_000052.7(ATP7A):c.1340C>T (p.Thr447Met)
|
|
|
NM_000052.7(ATP7A):c.1344T>C (p.Asn448=)
|
rs2149087769
|
|
NM_000052.7(ATP7A):c.1348C>T (p.Pro450Ser)
|
|
|
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu)
|
|
|
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=)
|
|
|
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=)
|
rs782421584
|
|
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val)
|
|
|
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)
|
|
|
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu)
|
rs1603381269
|
|
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=)
|
rs2077718812
|
|
NM_000052.7(ATP7A):c.1400C>G (p.Thr467Ser)
|
|
|
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile)
|
|
|
NM_000052.7(ATP7A):c.1402A>C (p.Asn468His)
|
|
|
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly)
|
rs1377636628
|
|
NM_000052.7(ATP7A):c.140dup (p.Asn47fs)
|
|
|
NM_000052.7(ATP7A):c.1414A>G (p.Thr472Ala)
|
rs2149087825
|
|
NM_000052.7(ATP7A):c.1415_1416insATACA (p.Lys473fs)
|
|
|
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=)
|
rs2149087828
|
|
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=)
|
|
|
NM_000052.7(ATP7A):c.1419_1420insCTCT (p.Gly474fs)
|
|
|
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=)
|
|
|
NM_000052.7(ATP7A):c.1424_1425del (p.Met475fs)
|
|
|
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=)
|
rs2077719509
|
|
NM_000052.7(ATP7A):c.1439_1443del (p.Asp480fs)
|
|
|
NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly)
|
|
|
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=)
|
|
|
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=)
|
rs2149087866
|
|
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe)
|
|
|
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=)
|
|
|
NM_000052.7(ATP7A):c.1465_1466del (p.Lys489fs)
|
|
|
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=)
|
|
|
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg)
|
rs2077719880
|
|
NM_000052.7(ATP7A):c.147T>C (p.Thr49=)
|
|
|
NM_000052.7(ATP7A):c.1486G>A (p.Gly496Ser)
|
|
|
NM_000052.7(ATP7A):c.1493C>G (p.Thr498Ser)
|
|
|
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr)
|
rs2149087885
|
|
NM_000052.7(ATP7A):c.14T>C (p.Met5Thr)
|
|
|
NM_000052.7(ATP7A):c.1500T>A (p.Ala500=)
|
|
|
NM_000052.7(ATP7A):c.1504T>C (p.Cys502Arg)
|
|
|
NM_000052.7(ATP7A):c.1506T>C (p.Cys502=)
|
rs2149087893
|
|
NM_000052.7(ATP7A):c.150T>A (p.Ile50=)
|
rs2149082532
|
|
NM_000052.7(ATP7A):c.1523G>A (p.Arg508Gln)
|
|
|
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=)
|
|
|
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp)
|
rs1030215501
|
|
NM_000052.7(ATP7A):c.1536G>T (p.Arg512=)
|
rs1557232820
|
|
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)
|
rs1569549699
|
|
NM_000052.7(ATP7A):c.1537dup (p.Glu513fs)
|
|
|
NM_000052.7(ATP7A):c.1540G>A (p.Glu514Lys)
|
|
|
NM_000052.7(ATP7A):c.1543+15A>G
|
|
|
NM_000052.7(ATP7A):c.1543+17G>A
|
rs2149087916
|
|
NM_000052.7(ATP7A):c.1543+18C>T
|
|
|
NM_000052.7(ATP7A):c.1543+8A>C
|
|
|
NM_000052.7(ATP7A):c.1544-16T>G
|
|
|
NM_000052.7(ATP7A):c.1544-1G>C
|
rs797045331
|
|
NM_000052.7(ATP7A):c.1544-2A>T
|
rs2077751404
|
|
NM_000052.7(ATP7A):c.1544-7C>T
|
rs2149090207
|
|
NM_000052.7(ATP7A):c.1555A>G (p.Ile519Val)
|
|
|
NM_000052.7(ATP7A):c.1566C>T (p.Ala522=)
|
rs2149090230
|
|
NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)
|
|
|
NM_000052.7(ATP7A):c.1581G>A (p.Lys527=)
|
rs2149090234
|
|
NM_000052.7(ATP7A):c.1592G>A (p.Arg531Lys)
|
|
|
NM_000052.7(ATP7A):c.1592G>T (p.Arg531Met)
|
rs782048861
|
|
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp)
|
rs1057524455
|
|
NM_000052.7(ATP7A):c.1599_1603delinsGAGA (p.Asn533fs)
|
|
|
NM_000052.7(ATP7A):c.159C>T (p.Asp53=)
|
rs2149082542
|
|
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
|
|
|
NM_000052.7(ATP7A):c.1605del (p.Val536fs)
|
|
|
NM_000052.7(ATP7A):c.1606G>C (p.Val536Leu)
|
|
|
NM_000052.7(ATP7A):c.1608_1611del (p.Ile537fs)
|
|
|
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr)
|
|
|
NM_000052.7(ATP7A):c.1611A>G (p.Ile537Met)
|
|
|
NM_000052.7(ATP7A):c.1614_1615delinsCAT (p.Gln538fs)
|
|
|
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
|
|
|
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val)
|
rs1557233382
|
|
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=)
|
|
|
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=)
|
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
NM_000052.7(ATP7A):c.1645C>G (p.Leu549Val)
|
|
|
NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile)
|
|
|
NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg)
|
|
|
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=)
|
|
|
NM_000052.7(ATP7A):c.165A>C (p.Lys55Asn)
|
|
|
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=)
|
rs2149090265
|
|
NM_000052.7(ATP7A):c.1667T>C (p.Ile556Thr)
|
|
|
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs)
|
rs2149090269
|
|
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln)
|
|
|
NM_000052.7(ATP7A):c.166C>T (p.Leu56=)
|
rs2149082544
|
|
NM_000052.7(ATP7A):c.1670A>C (p.Glu557Ala)
|
|
|
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr)
|
rs1603383823
|
|
NM_000052.7(ATP7A):c.1681G>A (p.Glu561Lys)
|
|
|
NM_000052.7(ATP7A):c.1681G>C (p.Glu561Gln)
|
rs2077752247
|
|
NM_000052.7(ATP7A):c.1683A>C (p.Glu561Asp)
|
|
|
NM_000052.7(ATP7A):c.1684G>A (p.Gly562Arg)
|
|
|
NM_000052.7(ATP7A):c.1688A>T (p.Asp563Val)
|
rs782561107
|
|
NM_000052.7(ATP7A):c.1690G>A (p.Gly564Ser)
|
|
|
NM_000052.7(ATP7A):c.1695T>C (p.Val565=)
|
rs2149090293
|
|
NM_000052.7(ATP7A):c.1697del (p.Leu566fs)
|
|
|
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
|
|
|
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=)
|
rs2149090295
|
|
NM_000052.7(ATP7A):c.1707+12T>G
|
|
|
NM_000052.7(ATP7A):c.1707+16del
|
|
|
NM_000052.7(ATP7A):c.1707+17G>A
|
|
|
NM_000052.7(ATP7A):c.1707+19G>A
|
|
|
NM_000052.7(ATP7A):c.1707+9G>C
|
rs2149090300
|
|
NM_000052.7(ATP7A):c.1708-16G>A
|
|
|
NM_000052.7(ATP7A):c.1708-19A>G
|
|
|
NM_000052.7(ATP7A):c.1708-5A>C
|
rs782104249
|
|
NM_000052.7(ATP7A):c.1717A>T (p.Met573Leu)
|
|
|
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile)
|
|
|
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg)
|
rs782076879
|
|
NM_000052.7(ATP7A):c.1730C>T (p.Ser577Phe)
|
rs2149093499
|
|
NM_000052.7(ATP7A):c.1731C>T (p.Ser577=)
|
rs2149093501
|
|
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile)
|
rs372116692
|
|
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu)
|
|
|
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly)
|
rs2077799245
|
|
NM_000052.7(ATP7A):c.1760C>T (p.Thr587Ile)
|
|
|
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=)
|
|
|
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln)
|
rs1603384813
|
|
NM_000052.7(ATP7A):c.1767C>T (p.His589=)
|
|
|
NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)
|
|
|
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
|
|
|
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=)
|
rs2149093521
|
|
NM_000052.7(ATP7A):c.1777C>G (p.Leu593Val)
|
rs2149093524
|
|
NM_000052.7(ATP7A):c.1779A>G (p.Leu593=)
|
rs1557234093
|
|
NM_000052.7(ATP7A):c.1780T>C (p.Tyr594His)
|
|
|
NM_000052.7(ATP7A):c.1782C>T (p.Tyr594=)
|
|
|
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=)
|
rs368747913
|
|
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=)
|
rs368747913
|
|
NM_000052.7(ATP7A):c.1793C>T (p.Ala598Val)
|
rs782386693
|
|
NM_000052.7(ATP7A):c.1795C>G (p.Leu599Val)
|
rs2149093539
|
|
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp)
|
rs2077547692
|
|
NM_000052.7(ATP7A):c.1802C>G (p.Thr601Ser)
|
|
|
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=)
|
|
|
NM_000052.7(ATP7A):c.1806C>A (p.Asn602Lys)
|
|
|
NM_000052.7(ATP7A):c.1808A>G (p.Lys603Arg)
|
|
|
NM_000052.7(ATP7A):c.180G>A (p.Lys60=)
|
|
|
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr)
|
rs2149093552
|
|
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg)
|
rs1020034878
|
|
NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile)
|
|
|
NM_000052.7(ATP7A):c.1843C>G (p.Pro615Ala)
|
|
|
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)
|
rs1569549841
|
|
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
|
|
|
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val)
|
rs1399879043
|
|
NM_000052.7(ATP7A):c.1867G>C (p.Glu623Gln)
|
|
|
NM_000052.7(ATP7A):c.1869+12G>T
|
|
|
NM_000052.7(ATP7A):c.1869+17del
|
|
|
NM_000052.7(ATP7A):c.1869+4A>G
|
|
|
NM_000052.7(ATP7A):c.1869+7G>A
|
rs2149093596
|
|
NM_000052.7(ATP7A):c.1869+7G>T
|
rs2149093596
|
|
NM_000052.7(ATP7A):c.1869+9C>G
|
rs2149093599
|
|
NM_000052.7(ATP7A):c.186A>G (p.Leu62=)
|
rs2149082562
|
|
NM_000052.7(ATP7A):c.1870-14A>G
|
|
|
NM_000052.7(ATP7A):c.1870-18T>C
|
|
|
NM_000052.7(ATP7A):c.1870-1G>C
|
rs797045338
|
|
NM_000052.7(ATP7A):c.1870-7T>G
|
|
|
NM_000052.7(ATP7A):c.1873T>C (p.Leu625=)
|
rs2149094927
|
|
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
|
rs797045339
|
|
NM_000052.7(ATP7A):c.1875_1876del (p.Gly626fs)
|
|
|
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=)
|
|
|
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser)
|
rs876661241
|
|
NM_000052.7(ATP7A):c.1894G>A (p.Val632Ile)
|
|
|
NM_000052.7(ATP7A):c.1896C>G (p.Val632=)
|
rs2149094955
|
|
NM_000052.7(ATP7A):c.1897A>G (p.Lys633Glu)
|
rs2149094957
|
|
NM_000052.7(ATP7A):c.189G>A (p.Gln63=)
|
|
|
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala)
|
|
|
NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu)
|
|
|
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp)
|
rs1057523112
|
|
NM_000052.7(ATP7A):c.1908G>A (p.Arg636=)
|
|
|
NM_000052.7(ATP7A):c.1908G>T (p.Arg636=)
|
|
|
NM_000052.7(ATP7A):c.1915A>G (p.Ser639Gly)
|
|
|
NM_000052.7(ATP7A):c.1916G>A (p.Ser639Asn)
|
|
|
NM_000052.7(ATP7A):c.1920C>T (p.His640=)
|
rs2149094980
|
|
NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn)
|
|
|
NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs)
|
|
|
NM_000052.7(ATP7A):c.1924del (p.Asp642fs)
|
|
|
NM_000052.7(ATP7A):c.1926T>A (p.Asp642Glu)
|
|
|
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg)
|
rs781900997
|
|
NM_000052.7(ATP7A):c.1932A>G (p.Lys644=)
|
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala)
|
rs2077822914
|
|
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
|
|
|
NM_000052.7(ATP7A):c.1945_1946+2dup
|
rs2077822992
|
|
NM_000052.7(ATP7A):c.1946+10T>G
|
rs2149095008
|
|
NM_000052.7(ATP7A):c.1946+12G>A
|
|
|
NM_000052.7(ATP7A):c.1946+12G>C
|
|
|
NM_000052.7(ATP7A):c.1946+15G>C
|
|
|
NM_000052.7(ATP7A):c.1946+16T>G
|
|
|
NM_000052.7(ATP7A):c.1947-15T>C
|
|
|
NM_000052.7(ATP7A):c.1947-16A>C
|
|
|
NM_000052.7(ATP7A):c.1947-16_1947-14del
|
rs2077824641
|
|
NM_000052.7(ATP7A):c.1947-16del
|
rs2149095131
|
|
NM_000052.7(ATP7A):c.1947-17T>A
|
|
|
NM_000052.7(ATP7A):c.1947-18T>C
|
|
|
NM_000052.7(ATP7A):c.1947-19T>C
|
|
|
NM_000052.7(ATP7A):c.1947-7A>C
|
|
|
NM_000052.7(ATP7A):c.1947-9C>T
|
rs2077824790
|
|
NM_000052.7(ATP7A):c.1956G>A (p.Arg652=)
|
rs2077825077
|
|
NM_000052.7(ATP7A):c.1966G>C (p.Val656Leu)
|
|
|
NM_000052.7(ATP7A):c.1972C>G (p.Leu658Val)
|
|
|
NM_000052.7(ATP7A):c.1979T>C (p.Phe660Ser)
|
|
|
NM_000052.7(ATP7A):c.1982G>A (p.Cys661Tyr)
|
|
|
NM_000052.7(ATP7A):c.1984A>T (p.Ile662Phe)
|
|
|
NM_000052.7(ATP7A):c.1988C>T (p.Pro663Leu)
|
|
|
NM_000052.7(ATP7A):c.1990G>C (p.Val664Leu)
|
|
|
NM_000052.7(ATP7A):c.1992A>G (p.Val664=)
|
|
|
NM_000052.7(ATP7A):c.19G>A (p.Val7Met)
|
|
|
NM_000052.7(ATP7A):c.2001G>A (p.Leu667=)
|
rs2077825500
|
|
NM_000052.7(ATP7A):c.2001G>C (p.Leu667=)
|
rs2077825500
|
|
NM_000052.7(ATP7A):c.2010T>C (p.Tyr670=)
|
rs2149095200
|
|
NM_000052.7(ATP7A):c.2013G>A (p.Met671Ile)
|
|
|
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile)
|
|
|
NM_000052.7(ATP7A):c.2015T>C (p.Met672Thr)
|
|
|
NM_000052.7(ATP7A):c.2019_2021dup (p.Val673_Met674insIle)
|
rs1569549885
|
|
NM_000052.7(ATP7A):c.2028C>T (p.His676=)
|
rs2149095212
|
|
NM_000052.7(ATP7A):c.2030A>G (p.His677Arg)
|
|
|
NM_000052.7(ATP7A):c.2033T>G (p.Phe678Cys)
|
|
|
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=)
|
rs2077825942
|
|
NM_000052.7(ATP7A):c.2045_2046del (p.His682fs)
|
|
|
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
|
|
|
NM_000052.7(ATP7A):c.2051del (p.Asn684fs)
|
|
|
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=)
|
|
|
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
|
|
|
NM_000052.7(ATP7A):c.2059A>T (p.Met687Leu)
|
|
|
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=)
|
rs2149095237
|
|
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
|
|
|
NM_000052.7(ATP7A):c.2076_2078del (p.Met692del)
|
|
|
NM_000052.7(ATP7A):c.2086_2087del (p.His696fs)
|
|
|
NM_000052.7(ATP7A):c.2093C>G (p.Ser698Cys)
|
|
|
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe)
|
rs2077826335
|
|
NM_000052.7(ATP7A):c.2094T>C (p.Ser698=)
|
rs2077826356
|
|
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys)
|
rs2149095258
|
|
NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)
|
|
|
NM_000052.7(ATP7A):c.210C>T (p.Gly70=)
|
|
|
NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter)
|
|
|
NM_000052.7(ATP7A):c.2112G>C (p.Gln704His)
|
|
|
NM_000052.7(ATP7A):c.2112G>T (p.Gln704His)
|
|
|
NM_000052.7(ATP7A):c.2127G>A (p.Leu709=)
|
|
|
NM_000052.7(ATP7A):c.2142G>C (p.Leu714Phe)
|
|
|
NM_000052.7(ATP7A):c.2143C>T (p.Leu715=)
|
rs2077826844
|
|
NM_000052.7(ATP7A):c.2145G>A (p.Leu715=)
|
rs2149095287
|
|
NM_000052.7(ATP7A):c.2149T>C (p.Phe717Leu)
|
rs1557234537
|
|
NM_000052.7(ATP7A):c.214G>T (p.Asp72Tyr)
|
rs2077650482
|
|
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=)
|
|
|
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly)
|
rs1569549892
|
|
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=)
|
rs797045346
|
|
NM_000052.7(ATP7A):c.2164_2167del (p.Pro722fs)
|
|
|
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=)
|
|
|
NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu)
|
|
|
NM_000052.7(ATP7A):c.2170C>G (p.Gln724Glu)
|
|
|
NM_000052.7(ATP7A):c.2172+12G>C
|
rs1557234548
|
|
NM_000052.7(ATP7A):c.2172+13T>C
|
|
|
NM_000052.7(ATP7A):c.2172+2C>T
|
rs2077827112
|
|
NM_000052.7(ATP7A):c.2172+5G>A
|
rs797045347
|
|
NM_000052.7(ATP7A):c.2172+5G>C
|
rs797045347
|
|
NM_000052.7(ATP7A):c.2172+8A>C
|
rs2149095311
|
|
NM_000052.7(ATP7A):c.2172+8_2172+12dup
|
rs782170618
|
|
NM_000052.7(ATP7A):c.2173-15A>G
|
|
|
NM_000052.7(ATP7A):c.2173-15A>T
|
|
|
NM_000052.7(ATP7A):c.2173-4G>T
|
|
|
NM_000052.7(ATP7A):c.2178C>G (p.Phe726Leu)
|
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.2180G>A (p.Gly727Glu)
|
rs2149095964
|
|
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg)
|
rs2077837052
|
|
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)
|
rs2149095968
|
|
NM_000052.7(ATP7A):c.2193C>T (p.Phe731=)
|
|
|
NM_000052.7(ATP7A):c.2196C>T (p.Tyr732=)
|
|
|
NM_000052.7(ATP7A):c.21G>C (p.Val7=)
|
rs2149073808
|
|
NM_000052.7(ATP7A):c.2200C>A (p.Gln734Lys)
|
|
|
NM_000052.7(ATP7A):c.2202G>C (p.Gln734His)
|
rs2149095977
|
|
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=)
|
|
|
NM_000052.7(ATP7A):c.2207A>T (p.Tyr736Phe)
|
rs1569549929
|
|
NM_000052.7(ATP7A):c.2207del (p.Tyr736fs)
|
|
|
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=)
|
rs1557234725
|
|
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)
|
|
|
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=)
|
|
|
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg)
|
rs2077837209
|
|
NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter)
|
|
|
NM_000052.7(ATP7A):c.222T>C (p.Val74=)
|
|
|
NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr)
|
|
|
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
|
|
|
NM_000052.7(ATP7A):c.2244A>G (p.Val748=)
|
rs2149095993
|
|
NM_000052.7(ATP7A):c.2247G>A (p.Leu749=)
|
|
|
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
|
|
|
NM_000052.7(ATP7A):c.2253G>T (p.Val751=)
|
|
|
NM_000052.7(ATP7A):c.2261_2262del (p.Thr754fs)
|
|
|
NM_000052.7(ATP7A):c.2262C>T (p.Thr754=)
|
|
|
NM_000052.7(ATP7A):c.2265C>T (p.Thr755=)
|
rs2149096003
|
|
NM_000052.7(ATP7A):c.2277C>T (p.Ala759=)
|
rs1473914623
|
|
NM_000052.7(ATP7A):c.2304A>G (p.Ala768=)
|
|
|
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)
|
|
|
NM_000052.7(ATP7A):c.2319C>A (p.Ala773=)
|
rs2149096036
|
|
NM_000052.7(ATP7A):c.2322A>G (p.Lys774=)
|
rs2149096038
|
|
NM_000052.7(ATP7A):c.2334dup (p.Thr779fs)
|
|
|
NM_000052.7(ATP7A):c.2340C>A (p.Phe780Leu)
|
rs2077838145
|
|
NM_000052.7(ATP7A):c.2345A>G (p.Asp782Gly)
|
|
|
NM_000052.7(ATP7A):c.2346C>T (p.Asp782=)
|
|
|
NM_000052.7(ATP7A):c.2349A>G (p.Thr783=)
|
|
|
NM_000052.7(ATP7A):c.2352C>T (p.Pro784=)
|
|
|
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr)
|
rs1057523512
|
|
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=)
|
|
|
NM_000052.7(ATP7A):c.2359C>T (p.Leu787=)
|
rs2149096056
|
|
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)
|
|
|
NM_000052.7(ATP7A):c.2361G>A (p.Leu787=)
|
rs2149096057
|
|
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu)
|
rs781834675
|
|
NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly)
|
|
|
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val)
|
|
|
NM_000052.7(ATP7A):c.2373T>G (p.Ile791Met)
|
rs2077838404
|
|
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=)
|
rs1208805004
|
|
NM_000052.7(ATP7A):c.237C>T (p.Asp79=)
|
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=)
|
rs1603385697
|
|
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr)
|
|
|
NM_000052.7(ATP7A):c.2404A>G (p.Lys802Glu)
|
|
|
NM_000052.7(ATP7A):c.2406+12A>C
|
|
|
NM_000052.7(ATP7A):c.2406+14G>A
|
|
|
NM_000052.7(ATP7A):c.2406+14G>T
|
|
|
NM_000052.7(ATP7A):c.2406+16G>A
|
|
|
NM_000052.7(ATP7A):c.2406+16G>T
|
|
|
NM_000052.7(ATP7A):c.2406+16_2406+18del
|
rs782017566
|
|
NM_000052.7(ATP7A):c.2406+19A>T
|
|
|
NM_000052.7(ATP7A):c.2406+20C>T
|
|
|
NM_000052.7(ATP7A):c.2406+6G>A
|
rs782307719
|
|
NM_000052.7(ATP7A):c.2407-10del
|
|
|
NM_000052.7(ATP7A):c.2407-19T>A
|
|
|
NM_000052.7(ATP7A):c.2407-19TGTT[3]
|
|
|
NM_000052.7(ATP7A):c.2407-4A>G
|
rs2149096806
|
|
NM_000052.7(ATP7A):c.2407-4A>T
|
rs2149096806
|
|
NM_000052.7(ATP7A):c.2407G>A (p.Gly803Ser)
|
|
|
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=)
|
|
|
NM_000052.7(ATP7A):c.2422G>T (p.Ala808Ser)
|
|
|
NM_000052.7(ATP7A):c.2429C>A (p.Ala810Glu)
|
|
|
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=)
|
|
|
NM_000052.7(ATP7A):c.2438T>C (p.Ile813Thr)
|
|
|
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=)
|
rs782694822
|
|
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
|
|
|
NM_000052.7(ATP7A):c.2450C>T (p.Ala817Val)
|
rs781879594
|
|
NM_000052.7(ATP7A):c.2453C>T (p.Thr818Ile)
|
|
|
NM_000052.7(ATP7A):c.2454A>C (p.Thr818=)
|
rs2149096833
|
|
NM_000052.7(ATP7A):c.2454A>G (p.Thr818=)
|
|
|
NM_000052.7(ATP7A):c.2456A>G (p.Glu819Gly)
|
|
|
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro)
|
rs1557234938
|
|
NM_000052.7(ATP7A):c.2460A>C (p.Ala820=)
|
|
|
NM_000052.7(ATP7A):c.2460A>T (p.Ala820=)
|
rs2149096836
|
|
NM_000052.7(ATP7A):c.2463T>C (p.Thr821=)
|
rs2149096842
|
|
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
|
|
|
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr)
|
rs782768766
|
|
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)
|
rs1569549974
|
|
NM_000052.7(ATP7A):c.2470A>T (p.Thr824Ser)
|
|
|
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=)
|
|
|
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val)
|
|
|
NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe)
|
|
|
NM_000052.7(ATP7A):c.2492T>A (p.Leu831His)
|
|
|
NM_000052.7(ATP7A):c.2498+16C>G
|
|
|
NM_000052.7(ATP7A):c.2498+18T>C
|
|
|
NM_000052.7(ATP7A):c.2498+2T>G
|
rs797045357
|
|
NM_000052.7(ATP7A):c.2498+3A>T
|
rs1603386005
|
|
NM_000052.7(ATP7A):c.2499-10T>C
|
rs2149097330
|
|
NM_000052.7(ATP7A):c.2499-11C>A
|
|
|
NM_000052.7(ATP7A):c.2499-12A>T
|
rs2149097328
|
|
NM_000052.7(ATP7A):c.2499-18A>G
|
|
|
NM_000052.7(ATP7A):c.2499-20T>C
|
|
|
NM_000052.7(ATP7A):c.2499-3C>T
|
rs2077858280
|
|
NM_000052.7(ATP7A):c.2499-7T>A
|
|
|
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly)
|
rs1603386154
|
|
NM_000052.7(ATP7A):c.251T>C (p.Leu84Ser)
|
|
|
NM_000052.7(ATP7A):c.2521C>T (p.Leu841Phe)
|
|
|
NM_000052.7(ATP7A):c.2526A>G (p.Val842=)
|
|
|
NM_000052.7(ATP7A):c.2528A>G (p.Gln843Arg)
|
|
|
NM_000052.7(ATP7A):c.2538T>C (p.Asp846=)
|
|
|
NM_000052.7(ATP7A):c.2559A>C (p.Gly853=)
|
|
|
NM_000052.7(ATP7A):c.256_262del (p.Asp86fs)
|
|
|
NM_000052.7(ATP7A):c.2574G>A (p.Val858=)
|
|
|
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly)
|
rs2077859082
|
|
NM_000052.7(ATP7A):c.257A>G (p.Asp86Gly)
|
rs2149082599
|
|
NM_000052.7(ATP7A):c.2580T>A (p.Gly860=)
|
rs2149097387
|
|
NM_000052.7(ATP7A):c.2586T>G (p.Val862=)
|
rs2149097395
|
|
NM_000052.7(ATP7A):c.2588T>C (p.Ile863Thr)
|
|
|
NM_000052.7(ATP7A):c.2603T>C (p.Met868Thr)
|
rs2149097408
|
|
NM_000052.7(ATP7A):c.260C>T (p.Thr87Ile)
|
rs782769542
|
|
NM_000052.7(ATP7A):c.261C>G (p.Thr87=)
|
rs2149082604
|
|
NM_000052.7(ATP7A):c.2624C>G (p.Thr875Arg)
|
|
|
NM_000052.7(ATP7A):c.2626+11T>G
|
rs2077859760
|
|
NM_000052.7(ATP7A):c.2626+12C>G
|
|
|
NM_000052.7(ATP7A):c.2626+13A>G
|
|
|
NM_000052.7(ATP7A):c.2626+16G>A
|
rs2149097436
|
|
NM_000052.7(ATP7A):c.2626+17G>C
|
|
|
NM_000052.7(ATP7A):c.2626+18A>G
|
|
|
NM_000052.7(ATP7A):c.2626+5G>T
|
rs2149097418
|
|
NM_000052.7(ATP7A):c.2626+8C>T
|
rs2149097424
|
|
NM_000052.7(ATP7A):c.2627-13A>T
|
|
|
NM_000052.7(ATP7A):c.2627-16T>G
|
|
|
NM_000052.7(ATP7A):c.2627-19A>G
|
|
|
NM_000052.7(ATP7A):c.2627-19A>T
|
|
|
NM_000052.7(ATP7A):c.2627-7C>T
|
rs1603386991
|
|
NM_000052.7(ATP7A):c.2627-8C>G
|
|
|
NM_000052.7(ATP7A):c.2628G>A (p.Gly876=)
|
|
|
NM_000052.7(ATP7A):c.2635A>T (p.Met879Leu)
|
|
|
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=)
|
|
|
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu)
|
|
|
NM_000052.7(ATP7A):c.2654C>A (p.Pro885His)
|
|
|
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=)
|
rs781976106
|
|
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=)
|
|
|
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=)
|
rs2149099638
|
|
NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro)
|
|
|
NM_000052.7(ATP7A):c.2663del (p.Thr888fs)
|
rs2077896094
|
|
NM_000052.7(ATP7A):c.2666T>C (p.Val889Ala)
|
|
|
NM_000052.7(ATP7A):c.2679C>G (p.Ser893=)
|
|
|
NM_000052.7(ATP7A):c.2694G>A (p.Gly898=)
|
rs2149099672
|
|
NM_000052.7(ATP7A):c.2698C>T (p.Leu900=)
|
rs2149099676
|
|
NM_000052.7(ATP7A):c.2704A>G (p.Ile902Val)
|
|
|
NM_000052.7(ATP7A):c.2712A>T (p.Ala904=)
|
rs1396353749
|
|
NM_000052.7(ATP7A):c.2715A>T (p.Thr905=)
|
rs1193758510
|
|
NM_000052.7(ATP7A):c.2716C>T (p.His906Tyr)
|
|
|
NM_000052.7(ATP7A):c.2734A>G (p.Thr912Ala)
|
|
|
NM_000052.7(ATP7A):c.2736C>A (p.Thr912=)
|
rs2149099708
|
|
NM_000052.7(ATP7A):c.2747T>C (p.Ile916Thr)
|
|
|
NM_000052.7(ATP7A):c.2761G>A (p.Glu921Lys)
|
|
|
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln)
|
rs2149099719
|
|
NM_000052.7(ATP7A):c.2765A>G (p.Glu922Gly)
|
|
|
NM_000052.7(ATP7A):c.2773_2781+4del
|
|
|
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=)
|
rs1603387045
|
|
NM_000052.7(ATP7A):c.2781+14C>T
|
|
|
NM_000052.7(ATP7A):c.2781+17G>C
|
|
|
NM_000052.7(ATP7A):c.2781+5C>T
|
|
|
NM_000052.7(ATP7A):c.2781+8A>T
|
rs2149099742
|
|
NM_000052.7(ATP7A):c.2782-11T>C
|
|
|
NM_000052.7(ATP7A):c.2782-13T>C
|
|
|
NM_000052.7(ATP7A):c.2782-14A>G
|
|
|
NM_000052.7(ATP7A):c.2782-14del
|
|
|
NM_000052.7(ATP7A):c.2782-17_2782-15del
|
|
|
NM_000052.7(ATP7A):c.2782-4C>T
|
|
|
NM_000052.7(ATP7A):c.2782-6T>C
|
|
|
NM_000052.7(ATP7A):c.2782-8A>C
|
rs2149100096
|
|
NM_000052.7(ATP7A):c.2782-9T>C
|
|
|
NM_000052.7(ATP7A):c.2788A>G (p.Ile930Val)
|
|
|
NM_000052.7(ATP7A):c.2790C>A (p.Ile930=)
|
rs2149100114
|
|
NM_000052.7(ATP7A):c.2790C>G (p.Ile930Met)
|
|
|
NM_000052.7(ATP7A):c.2801C>G (p.Ala934Gly)
|
|
|
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=)
|
rs2149100126
|
|
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=)
|
|
|
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser)
|
rs1569550056
|
|
NM_000052.7(ATP7A):c.2819A>G (p.Tyr940Cys)
|
|
|
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
|
|
|
NM_000052.7(ATP7A):c.2831T>C (p.Phe944Ser)
|
|
|
NM_000052.7(ATP7A):c.2842G>A (p.Val948Ile)
|
rs2077902319
|
|
NM_000052.7(ATP7A):c.2842G>T (p.Val948Phe)
|
|
|
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr)
|
|
|
NM_000052.7(ATP7A):c.2851G>A (p.Ala951Thr)
|
rs1557235719
|
|
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=)
|
|
|
NM_000052.7(ATP7A):c.2870T>A (p.Ile957Asn)
|
|
|
NM_000052.7(ATP7A):c.2874A>C (p.Val958=)
|
|
|
NM_000052.7(ATP7A):c.2875A>G (p.Ile959Val)
|
|
|
NM_000052.7(ATP7A):c.2887A>G (p.Asn963Asp)
|
|
|
NM_000052.7(ATP7A):c.2898T>C (p.Ile966=)
|
|
|
NM_000052.7(ATP7A):c.2916+11T>G
|
|
|
NM_000052.7(ATP7A):c.2916+19C>T
|
|
|
NM_000052.7(ATP7A):c.2916+3A>T
|
rs2149100212
|
|
NM_000052.7(ATP7A):c.2916+3_2916+6del
|
rs797045364
|
|
NM_000052.7(ATP7A):c.2917-13C>A
|
rs1343084607
|
|
NM_000052.7(ATP7A):c.2917-13C>T
|
|
|
NM_000052.7(ATP7A):c.2917-14C>T
|
|
|
NM_000052.7(ATP7A):c.2917-15G>T
|
|
|
NM_000052.7(ATP7A):c.2917-16T>C
|
|
|
NM_000052.7(ATP7A):c.2917-19T>G
|
|
|
NM_000052.7(ATP7A):c.2917-6C>T
|
|
|
NM_000052.7(ATP7A):c.2918G>T (p.Gly973Val)
|
|
|
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=)
|
rs1557236690
|
|
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn)
|
|
|
NM_000052.7(ATP7A):c.2936C>G (p.Ser979Cys)
|
|
|
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=)
|
rs72554649
|
|
NM_000052.7(ATP7A):c.2938C>G (p.Arg980Gly)
|
|
|
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
|
rs72554649
|
|
NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)
|
|
|
NM_000052.7(ATP7A):c.2949G>A (p.Thr983=)
|
rs782757659
|
|
NM_000052.7(ATP7A):c.2949G>C (p.Thr983=)
|
|
|
NM_000052.7(ATP7A):c.2949G>T (p.Thr983=)
|
rs782757659
|
|
NM_000052.7(ATP7A):c.2953del (p.Ile985fs)
|
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
NM_000052.7(ATP7A):c.2967C>T (p.Phe989=)
|
rs2077967350
|
|
NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp)
|
rs1557236729
|
|
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val)
|
rs1353488746
|
|
NM_000052.7(ATP7A):c.297A>C (p.Pro99=)
|
|
|
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)
|
rs267606673
|
|
NM_000052.7(ATP7A):c.2984T>G (p.Val995Gly)
|
rs2077967548
|
|
NM_000052.7(ATP7A):c.2986C>T (p.Leu996=)
|
|
|
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)
|
rs797045365
|
|
NM_000052.7(ATP7A):c.3007T>C (p.Ser1003Pro)
|
|
|
NM_000052.7(ATP7A):c.3009A>C (p.Ser1003=)
|
rs2077967684
|
|
NM_000052.7(ATP7A):c.3012G>C (p.Leu1004=)
|
rs2149104881
|
|
NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter)
|
|
|
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=)
|
|
|
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=)
|
|
|
NM_000052.7(ATP7A):c.3028A>T (p.Thr1010Ser)
|
rs782480109
|
|
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val)
|
rs1557236745
|
|
NM_000052.7(ATP7A):c.302A>G (p.Asp101Gly)
|
|
|
NM_000052.7(ATP7A):c.3036G>A (p.Val1012=)
|
rs2149104907
|
|
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu)
|
rs1557236747
|
|
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile)
|
|
|
NM_000052.7(ATP7A):c.3042G>A (p.Val1014=)
|
|
|
NM_000052.7(ATP7A):c.3045T>C (p.Gly1015=)
|
rs2149104924
|
|
NM_000052.7(ATP7A):c.3048A>T (p.Thr1016=)
|
rs2149104926
|
|
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser)
|
rs2077968146
|
|
NM_000052.7(ATP7A):c.305A>G (p.His102Arg)
|
rs1253495703
|
|
NM_000052.7(ATP7A):c.3066T>A (p.Asn1022Lys)
|
|
|
NM_000052.7(ATP7A):c.3069C>A (p.Gly1023=)
|
|
|
NM_000052.7(ATP7A):c.3072A>G (p.Ile1024Met)
|
|
|
NM_000052.7(ATP7A):c.3072A>T (p.Ile1024=)
|
|
|
NM_000052.7(ATP7A):c.3081A>G (p.Lys1027=)
|
rs2149104947
|
|
NM_000052.7(ATP7A):c.3081del (p.Gly1028fs)
|
|
|
NM_000052.7(ATP7A):c.3102G>A (p.Met1034Ile)
|
|
|
NM_000052.7(ATP7A):c.3111+10T>C
|
|
|
NM_000052.7(ATP7A):c.3111+10T>G
|
|
|
NM_000052.7(ATP7A):c.3111+11C>A
|
|
|
NM_000052.7(ATP7A):c.3111+13C>G
|
|
|
NM_000052.7(ATP7A):c.3111+18A>T
|
rs2149104971
|
|
NM_000052.7(ATP7A):c.3111+19C>T
|
|
|
NM_000052.7(ATP7A):c.3111+6A>G
|
rs2077968712
|
|
NM_000052.7(ATP7A):c.3111+7C>T
|
|
|
NM_000052.7(ATP7A):c.3111+8A>G
|
|
|
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
|
|
|
NM_000052.7(ATP7A):c.3112-15_3112-14dup
|
rs2077982901
|
|
NM_000052.7(ATP7A):c.3112-16C>G
|
rs2149106076
|
|
NM_000052.7(ATP7A):c.3112-18A>G
|
|
|
NM_000052.7(ATP7A):c.3112-5T>C
|
rs2149106085
|
|
NM_000052.7(ATP7A):c.3112-5dup
|
rs1569550186
|
|
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
|
|
|
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=)
|
|
|
NM_000052.7(ATP7A):c.3118G>A (p.Val1040Ile)
|
|
|
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu)
|
|
|
NM_000052.7(ATP7A):c.3119T>C (p.Val1040Ala)
|
rs2077983152
|
|
NM_000052.7(ATP7A):c.311A>C (p.Gln104Pro)
|
|
|
NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=)
|
|
|
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=)
|
rs797045370
|
|
NM_000052.7(ATP7A):c.3141A>C (p.Gly1047=)
|
|
|
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln)
|
rs142998552
|
|
NM_000052.7(ATP7A):c.3157A>G (p.Thr1053Ala)
|
|
|
NM_000052.7(ATP7A):c.3162A>G (p.Pro1054=)
|
|
|
NM_000052.7(ATP7A):c.3168G>A (p.Val1056=)
|
rs371089220
|
|
NM_000052.7(ATP7A):c.3177A>C (p.Val1059=)
|
|
|
NM_000052.7(ATP7A):c.3179A>G (p.Lys1060Arg)
|
rs2077983527
|
|
NM_000052.7(ATP7A):c.3184C>G (p.Leu1062Val)
|
|
|
NM_000052.7(ATP7A):c.3186A>G (p.Leu1062=)
|
rs2149106139
|
|
NM_000052.7(ATP7A):c.319T>C (p.Leu107=)
|
rs2149082638
|
|
NM_000052.7(ATP7A):c.319_320insACTGTCTCTTA (p.Leu107fs)
|
|
|
NM_000052.7(ATP7A):c.3201A>C (p.Arg1067Ser)
|
rs2149106147
|
|
NM_000052.7(ATP7A):c.3209_3210del (p.His1070fs)
|
|
|
NM_000052.7(ATP7A):c.3212A>G (p.His1071Arg)
|
|
|
NM_000052.7(ATP7A):c.3226A>G (p.Ile1076Val)
|
|
|
NM_000052.7(ATP7A):c.3237T>G (p.Thr1079=)
|
rs2149106153
|
|
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn)
|
rs1603389390
|
|
NM_000052.7(ATP7A):c.3247A>G (p.Asn1083Asp)
|
|
|
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=)
|
|
|
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)
|
rs1603389393
|
|
NM_000052.7(ATP7A):c.3252T>C (p.Ser1084=)
|
rs2149106168
|
|
NM_000052.7(ATP7A):c.3255A>G (p.Glu1085=)
|
rs2149106169
|
|
NM_000052.7(ATP7A):c.3256C>T (p.His1086Tyr)
|
|
|
NM_000052.7(ATP7A):c.3258C>T (p.His1086=)
|
|
|
NM_000052.7(ATP7A):c.3269C>T (p.Thr1090Ile)
|
rs2149106178
|
|
NM_000052.7(ATP7A):c.3271G>A (p.Ala1091Thr)
|
|
|
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile)
|
rs996808810
|
|
NM_000052.7(ATP7A):c.3281A>T (p.Lys1094Ile)
|
|
|
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
|
|
|
NM_000052.7(ATP7A):c.3286T>G (p.Cys1096Gly)
|
|
|
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln)
|
rs1557237081
|
|
NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter)
|
|
|
NM_000052.7(ATP7A):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_000052.7(ATP7A):c.3294+12dup
|
rs1223290704
|
|
NM_000052.7(ATP7A):c.3294+14C>T
|
|
|
NM_000052.7(ATP7A):c.3294+15dup
|
|
|
NM_000052.7(ATP7A):c.3294+16C>T
|
|
|
NM_000052.7(ATP7A):c.3294+1G>A
|
rs797045374
|
|
NM_000052.7(ATP7A):c.3294+7T>G
|
|
|
NM_000052.7(ATP7A):c.3295-11_3295-10del
|
|
|
NM_000052.7(ATP7A):c.3295-14T>C
|
|
|
NM_000052.7(ATP7A):c.3295-16T>C
|
|
|
NM_000052.7(ATP7A):c.3295-5G>T
|
rs2149107138
|
|
NM_000052.7(ATP7A):c.3295-6del
|
rs1557237411
|
|
NM_000052.7(ATP7A):c.3302A>G (p.Asp1101Gly)
|
|
|
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=)
|
|
|
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr)
|
rs2149107157
|
|
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr)
|
|
|
NM_000052.7(ATP7A):c.3333C>A (p.Phe1111Leu)
|
|
|
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile)
|
rs879254006
|
|
NM_000052.7(ATP7A):c.3337G>C (p.Val1113Leu)
|
|
|
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=)
|
|
|
NM_000052.7(ATP7A):c.3346G>A (p.Gly1116Ser)
|
rs2149107164
|
|
NM_000052.7(ATP7A):c.334G>A (p.Gly112Ser)
|
|
|
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=)
|
|
|
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=)
|
rs2149107179
|
|
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
|
|
|
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=)
|
|
|
NM_000052.7(ATP7A):c.3367G>A (p.Val1123Ile)
|
|
|
NM_000052.7(ATP7A):c.3367G>T (p.Val1123Phe)
|
rs2077995918
|
|
NM_000052.7(ATP7A):c.338_339del (p.Val113fs)
|
|
|
NM_000052.7(ATP7A):c.3391C>T (p.His1131Tyr)
|
rs2077996076
|
|
NM_000052.7(ATP7A):c.339G>A (p.Val113=)
|
|
|
NM_000052.7(ATP7A):c.3415G>A (p.Asp1139Asn)
|
rs2149107203
|
|
NM_000052.7(ATP7A):c.3421A>C (p.Asn1141His)
|
rs2149107206
|
|
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)
|
|
|
NM_000052.7(ATP7A):c.3423T>C (p.Asn1141=)
|
|
|
NM_000052.7(ATP7A):c.3424A>G (p.Ile1142Val)
|
|
|
NM_000052.7(ATP7A):c.3425T>C (p.Ile1142Thr)
|
|
|
NM_000052.7(ATP7A):c.3434C>A (p.Ala1145Glu)
|
|
|
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=)
|
|
|
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser)
|
rs1288867080
|
|
NM_000052.7(ATP7A):c.3462T>C (p.Asn1154=)
|
rs2149107223
|
|
NM_000052.7(ATP7A):c.3465A>G (p.Glu1155=)
|
|
|
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val)
|
|
|
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)
|
rs1557237451
|
|
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile)
|
rs1557237452
|
|
NM_000052.7(ATP7A):c.3486C>T (p.Ser1162=)
|
|
|
NM_000052.7(ATP7A):c.3487A>G (p.Met1163Val)
|
|
|
NM_000052.7(ATP7A):c.3488T>A (p.Met1163Lys)
|
|
|
NM_000052.7(ATP7A):c.3489G>A (p.Met1163Ile)
|
|
|
NM_000052.7(ATP7A):c.348del (p.Ile118fs)
|
|
|
NM_000052.7(ATP7A):c.3494T>C (p.Ile1165Thr)
|
|
|
NM_000052.7(ATP7A):c.3498T>A (p.Asp1166Glu)
|
|
|
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=)
|
rs2077996988
|
|
NM_000052.7(ATP7A):c.3499_3500delinsA (p.Ala1167fs)
|
|
|
NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter)
|
|
|
NM_000052.7(ATP7A):c.3501C>T (p.Ala1167=)
|
|
|
NM_000052.7(ATP7A):c.3507C>T (p.Ile1169=)
|
|
|
NM_000052.7(ATP7A):c.3511+8A>C
|
rs2149107265
|
|
NM_000052.7(ATP7A):c.3511+9A>C
|
|
|
NM_000052.7(ATP7A):c.3511+9A>T
|
rs2149107266
|
|
NM_000052.7(ATP7A):c.3512-14G>A
|
|
|
NM_000052.7(ATP7A):c.3512-16C>T
|
|
|
NM_000052.7(ATP7A):c.3512-6T>C
|
rs2078029932
|
|
NM_000052.7(ATP7A):c.3512-7C>T
|
|
|
NM_000052.7(ATP7A):c.3514G>A (p.Ala1172Thr)
|
|
|
NM_000052.7(ATP7A):c.3515_3522delinsAAG (p.Ala1172fs)
|
|
|
NM_000052.7(ATP7A):c.3517C>T (p.Leu1173Phe)
|
|
|
NM_000052.7(ATP7A):c.3518T>C (p.Leu1173Pro)
|
|
|
NM_000052.7(ATP7A):c.3518_3519del (p.Leu1173fs)
|
|
|
NM_000052.7(ATP7A):c.3518_3526delTTAATGCTC (p.Leu1173_Ala1175del)
|
|
|
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile)
|
rs876661235
|
|
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=)
|
|
|
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)
|
rs2078030304
|
|
NM_000052.7(ATP7A):c.3527A>T (p.Gln1176Leu)
|
|
|
NM_000052.7(ATP7A):c.352A>G (p.Ile118Val)
|
|
|
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=)
|
|
|
NM_000052.7(ATP7A):c.3545T>C (p.Ile1182Thr)
|
rs782588862
|
|
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)
|
rs2149109587
|
|
NM_000052.7(ATP7A):c.357C>T (p.Tyr119=)
|
|
|
NM_000052.7(ATP7A):c.3582C>T (p.Val1194=)
|
|
|
NM_000052.7(ATP7A):c.358C>T (p.Pro120Ser)
|
|
|
NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr)
|
|
|
NM_000052.7(ATP7A):c.3602A>T (p.Asp1201Val)
|
|
|
NM_000052.7(ATP7A):c.3604T>G (p.Phe1202Val)
|
|
|
NM_000052.7(ATP7A):c.3605T>C (p.Phe1202Ser)
|
rs2078030949
|
|
NM_000052.7(ATP7A):c.360T>A (p.Pro120=)
|
rs1557231616
|
|
NM_000052.7(ATP7A):c.360T>G (p.Pro120=)
|
|
|
NM_000052.7(ATP7A):c.360_363delinsAA (p.Gln121fs)
|
|
|
NM_000052.7(ATP7A):c.3612_3613del (p.Glu1205fs)
|
|
|
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=)
|
|
|
NM_000052.7(ATP7A):c.3625A>G (p.Lys1209Glu)
|
|
|
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=)
|
|
|
NM_000052.7(ATP7A):c.3631C>T (p.Arg1211Trp)
|
|
|
NM_000052.7(ATP7A):c.3641T>C (p.Val1214Ala)
|
|
|
NM_000052.7(ATP7A):c.3658+17G>T
|
|
|
NM_000052.7(ATP7A):c.3658+19A>G
|
|
|
NM_000052.7(ATP7A):c.3658+4A>T
|
|
|
NM_000052.7(ATP7A):c.3659-1G>A
|
rs2149110457
|
|
NM_000052.7(ATP7A):c.3659-7A>G
|
|
|
NM_000052.7(ATP7A):c.3659-9C>T
|
|
|
NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=)
|
|
|
NM_000052.7(ATP7A):c.3667_3669delinsA (p.Cys1223fs)
|
|
|
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser)
|
|
|
NM_000052.7(ATP7A):c.3685G>A (p.Ala1229Thr)
|
|
|
NM_000052.7(ATP7A):c.3689A>G (p.Asp1230Gly)
|
|
|
NM_000052.7(ATP7A):c.3692del (p.Thr1231fs)
|
|
|
NM_000052.7(ATP7A):c.3699G>A (p.Lys1233=)
|
rs2149110480
|
|
NM_000052.7(ATP7A):c.3703G>A (p.Glu1235Lys)
|
rs2149110482
|
|
NM_000052.7(ATP7A):c.3707C>G (p.Ala1236Gly)
|
|
|
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)
|
|
|
NM_000052.7(ATP7A):c.3724A>G (p.Ile1242Val)
|
|
|
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe)
|
rs1603390828
|
|
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=)
|
|
|
NM_000052.7(ATP7A):c.3737T>C (p.Met1246Thr)
|
|
|
NM_000052.7(ATP7A):c.373G>C (p.Val125Leu)
|
|
|
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu)
|
rs782688596
|
|
NM_000052.7(ATP7A):c.3753T>C (p.Val1251=)
|
|
|
NM_000052.7(ATP7A):c.3754C>T (p.Leu1252=)
|
rs2149110492
|
|
NM_000052.7(ATP7A):c.3761C>A (p.Thr1254Asn)
|
|
|
NM_000052.7(ATP7A):c.3761C>T (p.Thr1254Ile)
|
|
|
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val)
|
|
|
NM_000052.7(ATP7A):c.3781G>T (p.Ala1261Ser)
|
rs2078041778
|
|
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=)
|
rs1557238272
|
|
NM_000052.7(ATP7A):c.3788C>A (p.Ser1263Tyr)
|
|
|
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys)
|
rs372066609
|
|
NM_000052.7(ATP7A):c.3791T>C (p.Ile1264Thr)
|
rs2078042001
|
|
NM_000052.7(ATP7A):c.3793_3794del (p.Ala1265fs)
|
|
|
NM_000052.7(ATP7A):c.379G>A (p.Val127Met)
|
|
|
NM_000052.7(ATP7A):c.3801+11G>A
|
|
|
NM_000052.7(ATP7A):c.3801+13G>T
|
|
|
NM_000052.7(ATP7A):c.3801+17T>C
|
|
|
NM_000052.7(ATP7A):c.3801+20G>A
|
|
|
NM_000052.7(ATP7A):c.3802-12T>C
|
|
|
NM_000052.7(ATP7A):c.3802-15A>G
|
|
|
NM_000052.7(ATP7A):c.3802-1G>A
|
rs398123135
|
|
NM_000052.7(ATP7A):c.3802-6A>G
|
rs2149111706
|
|
NM_000052.7(ATP7A):c.3802-6A>T
|
rs2149111706
|
|
NM_000052.7(ATP7A):c.380_381del (p.Val127fs)
|
|
|
NM_000052.7(ATP7A):c.3810T>C (p.Ile1270=)
|
rs2149111712
|
|
NM_000052.7(ATP7A):c.3812C>T (p.Thr1271Ile)
|
rs932523090
|
|
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=)
|
rs2149111740
|
|
NM_000052.7(ATP7A):c.3846G>A (p.Lys1282=)
|
|
|
NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)
|
|
|
NM_000052.7(ATP7A):c.385A>G (p.Ile129Val)
|
|
|
NM_000052.7(ATP7A):c.3861G>A (p.Lys1287=)
|
rs1043267619
|
|
NM_000052.7(ATP7A):c.3864A>G (p.Gln1288=)
|
rs2149111751
|
|
NM_000052.7(ATP7A):c.3867T>G (p.Leu1289=)
|
|
|
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)
|
rs1603391120
|
|
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys)
|
rs999014839
|
|
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=)
|
|
|
NM_000052.7(ATP7A):c.3876G>A (p.Glu1292=)
|
|
|
NM_000052.7(ATP7A):c.3879G>A (p.Gly1293=)
|
|
|
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=)
|
rs372489000
|
|
NM_000052.7(ATP7A):c.3888A>G (p.Val1296=)
|
|
|
NM_000052.7(ATP7A):c.3894G>T (p.Met1298Ile)
|
|
|
NM_000052.7(ATP7A):c.391C>T (p.Pro131Ser)
|
|
|
NM_000052.7(ATP7A):c.3927G>A (p.Leu1309=)
|
|
|
NM_000052.7(ATP7A):c.3930A>G (p.Ala1310=)
|
|
|
NM_000052.7(ATP7A):c.3939T>C (p.Asn1313=)
|
rs2149111823
|
|
NM_000052.7(ATP7A):c.393T>A (p.Pro131=)
|
|
|
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser)
|
|
|
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=)
|
|
|
NM_000052.7(ATP7A):c.3952A>G (p.Ile1318Val)
|
|
|
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=)
|
|
|
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=)
|
|
|
NM_000052.7(ATP7A):c.3969T>A (p.Asp1323Glu)
|
|
|
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=)
|
rs369114635
|
|
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile)
|
rs782692001
|
|
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=)
|
|
|
NM_000052.7(ATP7A):c.3989A>G (p.Asp1330Gly)
|
|
|
NM_000052.7(ATP7A):c.3993G>A (p.Val1331=)
|
|
|
NM_000052.7(ATP7A):c.39T>C (p.Ser13=)
|
rs986987107
|
|
NM_000052.7(ATP7A):c.4005+12G>A
|
|
|
NM_000052.7(ATP7A):c.4005+13G>T
|
|
|
NM_000052.7(ATP7A):c.4005+16T>A
|
|
|
NM_000052.7(ATP7A):c.4005+17G>C
|
|
|
NM_000052.7(ATP7A):c.4005+1G>T
|
rs797045391
|
|
NM_000052.7(ATP7A):c.4005+5G>A
|
|
|
NM_000052.7(ATP7A):c.4006-10C>G
|
|
|
NM_000052.7(ATP7A):c.4006-13T>C
|
|
|
NM_000052.7(ATP7A):c.4006-1G>A
|
rs1557238665
|
|
NM_000052.7(ATP7A):c.4006-4T>C
|
|
|
NM_000052.7(ATP7A):c.4006-7T>A
|
|
|
NM_000052.7(ATP7A):c.400G>A (p.Val134Met)
|
|
|
NM_000052.7(ATP7A):c.400G>T (p.Val134Leu)
|
rs371441365
|
|
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=)
|
|
|
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)
|
|
|
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=)
|
rs2078061918
|
|
NM_000052.7(ATP7A):c.4021G>A (p.Val1341Ile)
|
|
|
NM_000052.7(ATP7A):c.4025T>C (p.Val1342Ala)
|
rs2149112223
|
|
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)
|
rs2078061940
|
|
NM_000052.7(ATP7A):c.402G>C (p.Val134=)
|
|
|
NM_000052.7(ATP7A):c.4038C>A (p.Asp1346Glu)
|
rs375819425
|
|
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=)
|
rs375819425
|
|
NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter)
|
|
|
NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)
|
|
|
NM_000052.7(ATP7A):c.4046G>C (p.Arg1349Thr)
|
rs2149112238
|
|
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)
|
rs4826245
|
|
NM_000052.7(ATP7A):c.4050G>T (p.Lys1350Asn)
|
|
|
NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp)
|
|
|
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=)
|
|
|
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys)
|
rs2078062220
|
|
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=)
|
rs1603391261
|
|
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser)
|
rs1603391261
|
|
NM_000052.7(ATP7A):c.4071A>C (p.Ile1357=)
|
rs2078062354
|
|
NM_000052.7(ATP7A):c.4074T>C (p.Asn1358=)
|
|
|
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=)
|
|
|
NM_000052.7(ATP7A):c.40G>T (p.Val14Phe)
|
|
|
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile)
|
rs782483019
|
|
NM_000052.7(ATP7A):c.410A>G (p.Asn137Ser)
|
rs2149082684
|
|
NM_000052.7(ATP7A):c.4113C>T (p.Pro1371=)
|
|
|
NM_000052.7(ATP7A):c.4123+12T>A
|
|
|
NM_000052.7(ATP7A):c.4123+17T>C
|
|
|
NM_000052.7(ATP7A):c.4123+17T>G
|
|
|
NM_000052.7(ATP7A):c.4124-13A>G
|
|
|
NM_000052.7(ATP7A):c.4124-16C>T
|
|
|
NM_000052.7(ATP7A):c.4124-17C>A
|
|
|
NM_000052.7(ATP7A):c.4124-3T>C
|
|
|
NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)
|
|
|
NM_000052.7(ATP7A):c.4141G>A (p.Gly1381Ser)
|
|
|
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=)
|
rs2149113522
|
|
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
|
|
|
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672
|
|
NM_000052.7(ATP7A):c.4159T>G (p.Trp1387Gly)
|
|
|
NM_000052.7(ATP7A):c.4164G>A (p.Met1388Ile)
|
rs2149113528
|
|
NM_000052.7(ATP7A):c.4166G>C (p.Gly1389Ala)
|
|
|
NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=)
|
|
|
NM_000052.7(ATP7A):c.4176A>G (p.Ala1392=)
|
rs2149113538
|
|
NM_000052.7(ATP7A):c.4182T>A (p.Ala1394=)
|
rs2149113545
|
|
NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=)
|
|
|
NM_000052.7(ATP7A):c.4205T>G (p.Leu1402Arg)
|
|
|
NM_000052.7(ATP7A):c.420_423delinsCTGTCTCTTATACACAT (p.Lys140fs)
|
|
|
NM_000052.7(ATP7A):c.4210T>G (p.Ser1404Ala)
|
rs2149113564
|
|
NM_000052.7(ATP7A):c.4219C>G (p.Leu1407Val)
|
|
|
NM_000052.7(ATP7A):c.4223A>G (p.Lys1408Arg)
|
|
|
NM_000052.7(ATP7A):c.4225C>A (p.Leu1409Ile)
|
rs2149113574
|
|
NM_000052.7(ATP7A):c.4226+12A>G
|
|
|
NM_000052.7(ATP7A):c.4226+18C>A
|
|
|
NM_000052.7(ATP7A):c.4226+20C>T
|
|
|
NM_000052.7(ATP7A):c.4226+6T>G
|
|
|
NM_000052.7(ATP7A):c.4226+7A>G
|
|
|
NM_000052.7(ATP7A):c.4226+9G>A
|
rs1557239012
|
|
NM_000052.7(ATP7A):c.4226T>C (p.Leu1409Pro)
|
|
|
NM_000052.7(ATP7A):c.4227-10A>G
|
|
|
NM_000052.7(ATP7A):c.4227-11C>T
|
rs2149113924
|
|
NM_000052.7(ATP7A):c.4227-12G>C
|
|
|
NM_000052.7(ATP7A):c.4227-16T>C
|
|
|
NM_000052.7(ATP7A):c.4227-17C>T
|
|
|
NM_000052.7(ATP7A):c.4227-18del
|
|
|
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)
|
rs797045397
|
|
NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys)
|
|
|
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu)
|
|
|
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro)
|
|
|
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile)
|
|
|
NM_000052.7(ATP7A):c.4247A>G (p.Glu1416Gly)
|
rs2149113944
|
|
NM_000052.7(ATP7A):c.4255G>A (p.Glu1419Lys)
|
|
|
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=)
|
rs2078083306
|
|
NM_000052.7(ATP7A):c.4263del (p.Ala1422fs)
|
|
|
NM_000052.7(ATP7A):c.4264G>T (p.Ala1422Ser)
|
|
|
NM_000052.7(ATP7A):c.4266C>T (p.Ala1422=)
|
rs2149113967
|
|
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.4267C>G (p.Arg1423Gly)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.4270A>G (p.Ser1424Gly)
|
rs2149113979
|
|
NM_000052.7(ATP7A):c.4272C>T (p.Ser1424=)
|
rs2149113981
|
|
NM_000052.7(ATP7A):c.4277T>C (p.Ile1426Thr)
|
|
|
NM_000052.7(ATP7A):c.4286A>G (p.Lys1429Arg)
|
|
|
NM_000052.7(ATP7A):c.4288A>G (p.Ser1430Gly)
|
rs2149113992
|
|
NM_000052.7(ATP7A):c.4289G>A (p.Ser1430Asn)
|
|
|
NM_000052.7(ATP7A):c.429T>G (p.Val143=)
|
rs2149082691
|
|
NM_000052.7(ATP7A):c.4300A>C (p.Ile1434Leu)
|
rs2149113995
|
|
NM_000052.7(ATP7A):c.4308T>C (p.Val1436=)
|
rs2149114009
|
|
NM_000052.7(ATP7A):c.4316G>C (p.Gly1439Ala)
|
|
|
NM_000052.7(ATP7A):c.4319T>C (p.Ile1440Thr)
|
|
|
NM_000052.7(ATP7A):c.4319T>G (p.Ile1440Arg)
|
|
|
NM_000052.7(ATP7A):c.4330T>A (p.Ser1444Thr)
|
|
|
NM_000052.7(ATP7A):c.4332A>G (p.Ser1444=)
|
rs2149114035
|
|
NM_000052.7(ATP7A):c.4348C>T (p.Leu1450=)
|
rs2149114038
|
|
NM_000052.7(ATP7A):c.4350G>T (p.Leu1450=)
|
rs2149114044
|
|
NM_000052.7(ATP7A):c.4356G>T (p.Leu1452Phe)
|
|
|
NM_000052.7(ATP7A):c.4364G>T (p.Arg1455Leu)
|
rs147848649
|
|
NM_000052.7(ATP7A):c.437del (p.Leu146fs)
|
rs2149082699
|
|
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=)
|
|
|
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=)
|
|
|
NM_000052.7(ATP7A):c.4436C>A (p.Thr1479Asn)
|
|
|
NM_000052.7(ATP7A):c.4439G>A (p.Ser1480Asn)
|
|
|
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=)
|
|
|
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg)
|
rs1557239147
|
|
NM_000052.7(ATP7A):c.4447G>T (p.Asp1483Tyr)
|
rs2149114118
|
|
NM_000052.7(ATP7A):c.444A>G (p.Leu148=)
|
|
|
NM_000052.7(ATP7A):c.4466T>C (p.Val1489Ala)
|
|
|
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=)
|
rs1603391708
|
|
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=)
|
|
|
NM_000052.7(ATP7A):c.4476C>G (p.Phe1492Leu)
|
rs2149114133
|
|
NM_000052.7(ATP7A):c.4480G>A (p.Glu1494Lys)
|
|
|
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn)
|
|
|
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly)
|
rs1557239152
|
|
NM_000052.7(ATP7A):c.453G>T (p.Gly151=)
|
|
|
NM_000052.7(ATP7A):c.453del (p.Thr152fs)
|
rs1603381331
|
|
NM_000052.7(ATP7A):c.45G>C (p.Glu15Asp)
|
|
|
NM_000052.7(ATP7A):c.462dup (p.Lys155fs)
|
rs2077652014
|
|
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
|
|
|
NM_000052.7(ATP7A):c.467A>T (p.Lys156Met)
|
rs2149082707
|
|
NM_000052.7(ATP7A):c.469_470del (p.Ser157fs)
|
|
|
NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys)
|
|
|
NM_000052.7(ATP7A):c.479G>C (p.Cys160Ser)
|
|
|
NM_000052.7(ATP7A):c.484G>T (p.Asp162Tyr)
|
|
|
NM_000052.7(ATP7A):c.48T>G (p.Gly16=)
|
rs2149073819
|
|
NM_000052.7(ATP7A):c.490A>T (p.Ser164Cys)
|
|
|
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
|
|
|
NM_000052.7(ATP7A):c.504T>C (p.Ala168=)
|
|
|
NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter)
|
|
|
NM_000052.7(ATP7A):c.523A>G (p.Met175Val)
|
|
|
NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter)
|
|
|
NM_000052.7(ATP7A):c.528A>G (p.Lys176=)
|
rs2149082749
|
|
NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro)
|
|
|
NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala)
|
|
|
NM_000052.7(ATP7A):c.534A>G (p.Glu178=)
|
rs2077652554
|
|
NM_000052.7(ATP7A):c.537G>A (p.Gly179=)
|
|
|
NM_000052.7(ATP7A):c.543C>T (p.Thr181=)
|
|
|
NM_000052.7(ATP7A):c.552A>G (p.Ser184=)
|
rs1557231655
|
|
NM_000052.7(ATP7A):c.552A>T (p.Ser184=)
|
|
|
NM_000052.7(ATP7A):c.555T>C (p.Cys185=)
|
|
|
NM_000052.7(ATP7A):c.556A>G (p.Thr186Ala)
|
rs1557231656
|
|
NM_000052.7(ATP7A):c.558T>G (p.Thr186=)
|
|
|
NM_000052.7(ATP7A):c.561C>T (p.Ser187=)
|
|
|
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)
|
|
|
NM_000052.7(ATP7A):c.57C>T (p.Cys19=)
|
rs145406974
|
|
NM_000052.7(ATP7A):c.597T>C (p.Val199=)
|
|
|
NM_000052.7(ATP7A):c.598C>G (p.Gln200Glu)
|
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
NM_000052.7(ATP7A):c.602G>A (p.Arg201Gln)
|
rs897502448
|
|
NM_000052.7(ATP7A):c.610+10C>T
|
|
|
NM_000052.7(ATP7A):c.610+13G>A
|
|
|
NM_000052.7(ATP7A):c.610+15G>T
|
|
|
NM_000052.7(ATP7A):c.610+18G>T
|
|
|
NM_000052.7(ATP7A):c.610+19A>C
|
|
|
NM_000052.7(ATP7A):c.610+20T>C
|
|
|
NM_000052.7(ATP7A):c.610+2T>C
|
|
|
NM_000052.7(ATP7A):c.611-10T>C
|
rs2149083014
|
|
NM_000052.7(ATP7A):c.611-16del
|
|
|
NM_000052.7(ATP7A):c.611-20T>C
|
|
|
NM_000052.7(ATP7A):c.611-21_611-17del
|
rs1350377636
|
|
NM_000052.7(ATP7A):c.611-5A>G
|
rs1557231730
|
|
NM_000052.7(ATP7A):c.611-6A>G
|
|
|
NM_000052.7(ATP7A):c.612C>T (p.Val204=)
|
rs2077655830
|
|
NM_000052.7(ATP7A):c.616C>T (p.Leu206=)
|
|
|
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg)
|
rs2149083027
|
|
NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro)
|
|
|
NM_000052.7(ATP7A):c.656T>G (p.Leu219Arg)
|
|
|
NM_000052.7(ATP7A):c.657T>G (p.Leu219=)
|
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NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
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NM_000052.7(ATP7A):c.659T>C (p.Ile220Thr)
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rs2149083046
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NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr)
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rs2077548143
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NM_000052.7(ATP7A):c.674T>A (p.Met225Lys)
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NM_000052.7(ATP7A):c.675G>A (p.Met225Ile)
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NM_000052.7(ATP7A):c.678A>G (p.Lys226=)
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NM_000052.7(ATP7A):c.67G>A (p.Val23Ile)
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NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr)
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rs1557231750
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NM_000052.7(ATP7A):c.687T>C (p.Ile229=)
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NM_000052.7(ATP7A):c.690A>C (p.Glu230Asp)
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NM_000052.7(ATP7A):c.695T>C (p.Met232Thr)
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rs2149083058
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NM_000052.7(ATP7A):c.69T>G (p.Val23=)
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NM_000052.7(ATP7A):c.702T>G (p.Phe234Leu)
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NM_000052.7(ATP7A):c.706_707insTC (p.Ala236fs)
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NM_000052.7(ATP7A):c.714C>A (p.Val238=)
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rs2149083069
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NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn)
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NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu)
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NM_000052.7(ATP7A):c.722A>G (p.Gln241Arg)
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rs2077656389
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NM_000052.7(ATP7A):c.725C>G (p.Pro242Arg)
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NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr)
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rs184646064
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NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile)
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NM_000052.7(ATP7A):c.740T>C (p.Leu247Ser)
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NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn)
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NM_000052.7(ATP7A):c.753T>C (p.Asp251=)
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rs2149083096
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NM_000052.7(ATP7A):c.753_755delinsA (p.Asp251fs)
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NM_000052.7(ATP7A):c.754G>A (p.Val252Ile)
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NM_000052.7(ATP7A):c.756A>G (p.Val252=)
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NM_000052.7(ATP7A):c.761G>A (p.Arg254His)
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NM_000052.7(ATP7A):c.774A>G (p.Thr258=)
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NM_000052.7(ATP7A):c.783A>G (p.Lys261=)
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NM_000052.7(ATP7A):c.789A>G (p.Ser263=)
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NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr)
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rs2077656822
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NM_000052.7(ATP7A):c.798A>G (p.Ser266=)
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NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg)
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NM_000052.7(ATP7A):c.801G>A (p.Gln267=)
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NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter)
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rs2149083118
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NM_000052.7(ATP7A):c.807G>T (p.Arg269Ser)
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rs868946047
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NM_000052.7(ATP7A):c.816A>G (p.Ser272=)
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rs2149083124
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NM_000052.7(ATP7A):c.81G>A (p.Glu27=)
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rs2149073851
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NM_000052.7(ATP7A):c.822C>T (p.Thr274=)
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rs2149083127
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NM_000052.7(ATP7A):c.824A>T (p.Asn275Ile)
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NM_000052.7(ATP7A):c.828T>C (p.Asp276=)
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rs2077656976
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NM_000052.7(ATP7A):c.831A>T (p.Ser277=)
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rs2149083138
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NM_000052.7(ATP7A):c.833C>G (p.Thr278Arg)
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NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp)
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NM_000052.7(ATP7A):c.837C>T (p.Ala279=)
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NM_000052.7(ATP7A):c.843C>T (p.Phe281=)
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NM_000052.7(ATP7A):c.849T>A (p.Ile283=)
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NM_000052.7(ATP7A):c.84G>A (p.Gln28=)
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rs1603378828
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NM_000052.7(ATP7A):c.860A>G (p.His287Arg)
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NM_000052.7(ATP7A):c.868T>C (p.Ser290Pro)
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NM_000052.7(ATP7A):c.870A>C (p.Ser290=)
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NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
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NM_000052.7(ATP7A):c.885T>C (p.Ile295=)
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NM_000052.7(ATP7A):c.897del (p.Leu299fs)
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NM_000052.7(ATP7A):c.898T>C (p.Ser300Pro)
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NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys)
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NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg)
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NM_000052.7(ATP7A):c.903A>C (p.Ala301=)
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rs1557231803
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NM_000052.7(ATP7A):c.906C>T (p.Leu302=)
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NM_000052.7(ATP7A):c.90T>G (p.Ile30Met)
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rs2149073867
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NM_000052.7(ATP7A):c.916A>G (p.Ser306Gly)
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NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)
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NM_000052.7(ATP7A):c.927A>G (p.Val309=)
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rs2149083187
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NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu)
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rs1569549378
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NM_000052.7(ATP7A):c.939G>A (p.Glu313=)
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NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser)
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rs1064797375
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NM_000052.7(ATP7A):c.942T>C (p.Asn314=)
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rs2149083195
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NM_000052.7(ATP7A):c.945G>A (p.Arg315=)
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rs2149083198
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NM_000052.7(ATP7A):c.945G>T (p.Arg315Ser)
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rs2149083198
|
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NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln)
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rs2077548318
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NM_000052.7(ATP7A):c.954_955delinsAT (p.Val319Leu)
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NM_000052.7(ATP7A):c.964A>G (p.Asn322Asp)
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NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr)
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rs2149083223
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NM_000052.7(ATP7A):c.973_974del (p.Val326fs)
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NM_000052.7(ATP7A):c.978C>T (p.Val326=)
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NM_000052.7(ATP7A):c.97G>C (p.Val33Leu)
|
rs2077548355
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