NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)
|
rs186924074
|
0.00059
|
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met)
|
rs192957846
|
0.00041
|
NM_000053.4(ATP7B):c.2730G>A (p.Lys910=)
|
rs80145681
|
0.00037
|
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met)
|
rs201061621
|
0.00032
|
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)
|
rs146623472
|
0.00026
|
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)
|
rs189601972
|
0.00025
|
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.1621G>A (p.Glu541Lys)
|
rs187046823
|
0.00014
|
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.3G>A (p.Met1Ile)
|
rs750530407
|
0.00011
|
NM_000053.4(ATP7B):c.3243+5G>A
|
rs373193482
|
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.482T>C (p.Ile161Thr)
|
rs531199827
|
0.00009
|
NM_000053.4(ATP7B):c.2323G>T (p.Ala775Ser)
|
rs535217574
|
0.00008
|
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu)
|
rs771789585
|
0.00007
|
NM_000053.4(ATP7B):c.2806T>G (p.Leu936Val)
|
rs367855110
|
0.00007
|
NM_000053.4(ATP7B):c.1145C>G (p.Ser382Cys)
|
rs774102085
|
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.3671G>T (p.Arg1224Leu)
|
rs532177115
|
0.00006
|
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys)
|
rs372435824
|
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.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.1258A>G (p.Met420Val)
|
rs1390574533
|
0.00004
|
NM_000053.4(ATP7B):c.133G>A (p.Glu45Lys)
|
rs777504965
|
0.00004
|
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys)
|
rs376565432
|
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.4070C>T (p.Ala1357Val)
|
rs769949264
|
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.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.2391_2393del (p.Leu798del)
|
rs772383075
|
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.3426G>C (p.Gln1142His)
|
rs778749563
|
0.00003
|
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His)
|
rs773917820
|
0.00003
|
NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr)
|
rs777879359
|
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.1297A>G (p.Thr433Ala)
|
rs532864884
|
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.2219C>T (p.Ala740Val)
|
rs1406386204
|
0.00002
|
NM_000053.4(ATP7B):c.227T>C (p.Ile76Thr)
|
rs747911411
|
0.00002
|
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)
|
rs749085322
|
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.4045G>C (p.Val1349Leu)
|
rs374924611
|
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.866A>C (p.Gln289Pro)
|
rs751053970
|
0.00002
|
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.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.1324G>T (p.Gly442Trp)
|
rs776135837
|
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.1862T>C (p.Ile621Thr)
|
rs377670877
|
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.20A>G (p.Gln7Arg)
|
rs764340318
|
0.00001
|
NM_000053.4(ATP7B):c.2114T>G (p.Phe705Cys)
|
rs756971846
|
0.00001
|
NM_000053.4(ATP7B):c.2138A>G (p.Tyr713Cys)
|
rs756883878
|
0.00001
|
NM_000053.4(ATP7B):c.2236G>A (p.Val746Ile)
|
rs746531706
|
0.00001
|
NM_000053.4(ATP7B):c.2320A>G (p.Ile774Val)
|
rs778579276
|
0.00001
|
NM_000053.4(ATP7B):c.2551A>G (p.Met851Val)
|
rs758360345
|
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.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.2797A>C (p.Thr933Pro)
|
rs1555288410
|
0.00001
|
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser)
|
rs767877891
|
0.00001
|
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)
|
rs193922104
|
0.00001
|
NM_000053.4(ATP7B):c.3061A>G (p.Ile1021Val)
|
rs776490710
|
0.00001
|
NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro)
|
rs373601229
|
0.00001
|
NM_000053.4(ATP7B):c.3243+4C>T
|
rs779783859
|
0.00001
|
NM_000053.4(ATP7B):c.3550A>G (p.Ile1184Val)
|
rs1057519121
|
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.3637G>A (p.Gly1213Ser)
|
rs745918596
|
0.00001
|
NM_000053.4(ATP7B):c.3695C>T (p.Thr1232Ile)
|
rs1345433491
|
0.00001
|
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe)
|
rs193922108
|
0.00001
|
NM_000053.4(ATP7B):c.372C>A (p.Ser124Arg)
|
rs1489384071
|
0.00001
|
NM_000053.4(ATP7B):c.3787G>A (p.Ala1263Thr)
|
rs781514805
|
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.3892G>A (p.Val1298Ile)
|
rs753044473
|
0.00001
|
NM_000053.4(ATP7B):c.3964C>T (p.Arg1322Cys)
|
rs534984209
|
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.4077G>T (p.Met1359Ile)
|
rs759551693
|
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.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.470G>T (p.Cys157Phe)
|
rs551275663
|
0.00001
|
NM_000053.4(ATP7B):c.497G>A (p.Arg166Gln)
|
rs150490315
|
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.968T>C (p.Phe323Ser)
|
rs1186805034
|
0.00001
|
NM_000053.4(ATP7B):c.994G>A (p.Glu332Lys)
|
rs761084829
|
0.00001
|
NC_000013.10:g.(?_51484213)_(52602726_?)dup
|
|
|
NC_000013.10:g.(?_52538988)_(52585473_?)dup
|
|
|
NC_000013.11:g.52011797C>T
|
rs2140784828
|
|
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.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.107G>C (p.Ser36Thr)
|
|
|
NM_000053.4(ATP7B):c.10C>G (p.Gln4Glu)
|
|
|
NM_000053.4(ATP7B):c.1100G>A (p.Gly367Asp)
|
|
|
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.1138A>C (p.Met380Leu)
|
|
|
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.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.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.1291T>G (p.Cys431Gly)
|
rs145173864
|
|
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser)
|
rs763788226
|
|
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.1427C>T (p.Ala476Val)
|
rs1194712970
|
|
NM_000053.4(ATP7B):c.1441T>C (p.Ser481Pro)
|
|
|
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.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.1600C>T (p.Pro534Ser)
|
|
|
NM_000053.4(ATP7B):c.160TCT[1] (p.Ser55del)
|
|
|
NM_000053.4(ATP7B):c.1614G>T (p.Gln538His)
|
|
|
NM_000053.4(ATP7B):c.1648G>A (p.Gly550Ser)
|
rs964566440
|
|
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.169G>A (p.Val57Met)
|
|
|
NM_000053.4(ATP7B):c.1707+2dup
|
rs781531824
|
|
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.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.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+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.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+5G>A
|
rs2139666211
|
|
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>T (p.Leu655=)
|
rs574041847
|
|
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.2053G>A (p.Asp685Asn)
|
|
|
NM_000053.4(ATP7B):c.2060A>T (p.Asn687Ile)
|
|
|
NM_000053.4(ATP7B):c.2068C>A (p.Pro690Thr)
|
|
|
NM_000053.4(ATP7B):c.206G>T (p.Cys69Phe)
|
|
|
NM_000053.4(ATP7B):c.2121+4T>C
|
|
|
NM_000053.4(ATP7B):c.2122-3C>G
|
rs1593726901
|
|
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.215G>A (p.Cys72Tyr)
|
|
|
NM_000053.4(ATP7B):c.2175G>T (p.Arg725Ser)
|
rs61733684
|
|
NM_000053.4(ATP7B):c.2194C>T (p.Leu732Phe)
|
rs1958502647
|
|
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.2261A>G (p.Glu754Gly)
|
|
|
NM_000053.4(ATP7B):c.2299C>A (p.Pro767Thr)
|
rs2139531503
|
|
NM_000053.4(ATP7B):c.22A>G (p.Ile8Val)
|
|
|
NM_000053.4(ATP7B):c.2314G>A (p.Val772Met)
|
rs554893410
|
|
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.2355+5C>T
|
|
|
NM_000053.4(ATP7B):c.2359A>C (p.Lys787Gln)
|
|
|
NM_000053.4(ATP7B):c.2364C>T (p.Thr788=)
|
|
|
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.2387T>A (p.Met796Lys)
|
|
|
NM_000053.4(ATP7B):c.2392C>T (p.Leu798Phe)
|
|
|
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.2480G>A (p.Arg827Gln)
|
rs368589213
|
|
NM_000053.4(ATP7B):c.2491G>A (p.Val831Ile)
|
|
|
NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu)
|
rs773809011
|
|
NM_000053.4(ATP7B):c.2518C>T (p.Pro840Ser)
|
|
|
NM_000053.4(ATP7B):c.2546A>G (p.Asn849Ser)
|
|
|
NM_000053.4(ATP7B):c.2588C>T (p.Pro863Leu)
|
|
|
NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu)
|
rs121907994
|
|
NM_000053.4(ATP7B):c.262A>G (p.Ser88Gly)
|
|
|
NM_000053.4(ATP7B):c.2641G>A (p.Gly881Ser)
|
rs2139208285
|
|
NM_000053.4(ATP7B):c.2659G>C (p.Ala887Pro)
|
|
|
NM_000053.4(ATP7B):c.2674A>T (p.Asn892Tyr)
|
|
|
NM_000053.4(ATP7B):c.2675A>G (p.Asn892Ser)
|
|
|
NM_000053.4(ATP7B):c.2698G>A (p.Val900Met)
|
|
|
NM_000053.4(ATP7B):c.26C>T (p.Thr9Ile)
|
|
|
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.2737A>G (p.Ile913Val)
|
|
|
NM_000053.4(ATP7B):c.2740C>G (p.Gln914Glu)
|
|
|
NM_000053.4(ATP7B):c.2753A>C (p.Asp918Ala)
|
|
|
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.2833A>G (p.Ile945Val)
|
|
|
NM_000053.4(ATP7B):c.2836G>A (p.Asp946Asn)
|
|
|
NM_000053.4(ATP7B):c.2873A>G (p.Asn958Ser)
|
|
|
NM_000053.4(ATP7B):c.2875A>G (p.Lys959Glu)
|
|
|
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.3055C>A (p.His1019Asn)
|
rs2139046533
|
|
NM_000053.4(ATP7B):c.3061-12T>G
|
|
|
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.3143T>A (p.Val1048Glu)
|
rs1423091096
|
|
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.3199A>G (p.Ser1067Gly)
|
|
|
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)
|
|
|
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.3272G>A (p.Cys1091Tyr)
|
rs778825095
|
|
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly)
|
rs1022670769
|
|
NM_000053.4(ATP7B):c.3286G>A (p.Ala1096Thr)
|
|
|
NM_000053.4(ATP7B):c.3292C>T (p.Pro1098Ser)
|
|
|
NM_000053.4(ATP7B):c.3320_3322del (p.Ser1107del)
|
rs760772190
|
|
NM_000053.4(ATP7B):c.3322A>C (p.Asn1108His)
|
|
|
NM_000053.4(ATP7B):c.3325G>A (p.Val1109Met)
|
|
|
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.3434C>G (p.Ser1145Cys)
|
|
|
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.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.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.3616G>C (p.Val1206Leu)
|
|
|
NM_000053.4(ATP7B):c.3619C>T (p.His1207Tyr)
|
rs766820841
|
|
NM_000053.4(ATP7B):c.365A>G (p.Glu122Gly)
|
|
|
NM_000053.4(ATP7B):c.3671G>A (p.Arg1224Gln)
|
|
|
NM_000053.4(ATP7B):c.3699+3A>G
|
rs1459548901
|
|
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.3752A>T (p.Lys1251Met)
|
|
|
NM_000053.4(ATP7B):c.3788C>G (p.Ala1263Gly)
|
|
|
NM_000053.4(ATP7B):c.3797G>A (p.Gly1266Glu)
|
rs1566444586
|
|
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)
|
rs1375884723
|
|
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.3860G>A (p.Gly1287Asp)
|
rs2138574727
|
|
NM_000053.4(ATP7B):c.3880G>A (p.Ala1294Thr)
|
|
|
NM_000053.4(ATP7B):c.3899T>C (p.Ile1300Thr)
|
rs1957038377
|
|
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.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.3980T>C (p.Leu1327Pro)
|
rs2138559197
|
|
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.4063G>A (p.Gly1355Ser)
|
rs1555282751
|
|
NM_000053.4(ATP7B):c.4076_4077delinsAT (p.Met1359Asn)
|
|
|
NM_000053.4(ATP7B):c.4094C>T (p.Ser1365Phe)
|
|
|
NM_000053.4(ATP7B):c.40G>A (p.Ala14Thr)
|
|
|
NM_000053.4(ATP7B):c.4112T>G (p.Leu1371Arg)
|
rs1444841250
|
|
NM_000053.4(ATP7B):c.4114C>A (p.Gln1372Lys)
|
|
|
NM_000053.4(ATP7B):c.4124+6T>C
|
rs2138450581
|
|
NM_000053.4(ATP7B):c.4125-2A>G
|
rs1555282347
|
|
NM_000053.4(ATP7B):c.4141C>G (p.Leu1381Val)
|
|
|
NM_000053.4(ATP7B):c.4174A>G (p.Met1392Val)
|
|
|
NM_000053.4(ATP7B):c.4174A>T (p.Met1392Leu)
|
|
|
NM_000053.4(ATP7B):c.4181C>T (p.Pro1394Leu)
|
rs1041361346
|
|
NM_000053.4(ATP7B):c.4187C>T (p.Thr1396Met)
|
|
|
NM_000053.4(ATP7B):c.4231C>G (p.Arg1411Gly)
|
|
|
NM_000053.4(ATP7B):c.4268G>A (p.Ser1423Asn)
|
rs755388647
|
|
NM_000053.4(ATP7B):c.4273G>A (p.Val1425Ile)
|
|
|
NM_000053.4(ATP7B):c.4280A>G (p.Gln1427Arg)
|
|
|
NM_000053.4(ATP7B):c.4283T>C (p.Val1428Ala)
|
|
|
NM_000053.4(ATP7B):c.4286C>T (p.Ser1429Leu)
|
rs1956864058
|
|
NM_000053.4(ATP7B):c.4306G>A (p.Asp1436Asn)
|
|
|
NM_000053.4(ATP7B):c.4315T>C (p.Ser1439Pro)
|
rs1454806333
|
|
NM_000053.4(ATP7B):c.4316C>G (p.Ser1439Cys)
|
|
|
NM_000053.4(ATP7B):c.4327G>A (p.Ala1443Thr)
|
|
|
NM_000053.4(ATP7B):c.4327G>T (p.Ala1443Ser)
|
rs764383437
|
|
NM_000053.4(ATP7B):c.4348G>A (p.Asp1450Asn)
|
|
|
NM_000053.4(ATP7B):c.4379A>G (p.Asp1460Gly)
|
rs1593633844
|
|
NM_000053.4(ATP7B):c.437A>G (p.Lys146Arg)
|
|
|
NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg)
|
rs202131204
|
|
NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg)
|
|
|
NM_000053.4(ATP7B):c.449A>C (p.Glu150Ala)
|
|
|
NM_000053.4(ATP7B):c.464A>G (p.Gln155Arg)
|
|
|
NM_000053.4(ATP7B):c.46C>G (p.Arg16Gly)
|
|
|
NM_000053.4(ATP7B):c.486A>C (p.Glu162Asp)
|
|
|
NM_000053.4(ATP7B):c.501A>T (p.Lys167Asn)
|
|
|
NM_000053.4(ATP7B):c.512T>C (p.Val171Ala)
|
|
|
NM_000053.4(ATP7B):c.530C>T (p.Ser177Leu)
|
|
|
NM_000053.4(ATP7B):c.555C>G (p.Ile185Met)
|
|
|
NM_000053.4(ATP7B):c.556A>G (p.Thr186Ala)
|
|
|
NM_000053.4(ATP7B):c.579G>C (p.Gln193His)
|
|
|
NM_000053.4(ATP7B):c.580C>T (p.Pro194Ser)
|
|
|
NM_000053.4(ATP7B):c.595G>T (p.Asp199Tyr)
|
|
|
NM_000053.4(ATP7B):c.599A>G (p.His200Arg)
|
|
|
NM_000053.4(ATP7B):c.604A>G (p.Asn202Asp)
|
rs1952013968
|
|
NM_000053.4(ATP7B):c.611T>C (p.Met204Thr)
|
|
|
NM_000053.4(ATP7B):c.613G>A (p.Gly205Arg)
|
rs528587507
|
|
NM_000053.4(ATP7B):c.62A>T (p.Lys21Met)
|
|
|
NM_000053.4(ATP7B):c.664A>C (p.Ile222Leu)
|
|
|
NM_000053.4(ATP7B):c.677G>A (p.Arg226Gln)
|
|
|
NM_000053.4(ATP7B):c.694C>T (p.Pro232Ser)
|
|
|
NM_000053.4(ATP7B):c.697A>G (p.Lys233Glu)
|
|
|
NM_000053.4(ATP7B):c.703C>G (p.Pro235Ala)
|
rs2140092373
|
|
NM_000053.4(ATP7B):c.748G>A (p.Gly250Arg)
|
|
|
NM_000053.4(ATP7B):c.76A>G (p.Thr26Ala)
|
|
|
NM_000053.4(ATP7B):c.789A>G (p.Ile263Met)
|
rs2140089802
|
|
NM_000053.4(ATP7B):c.797T>A (p.Met266Lys)
|
rs2140089674
|
|
NM_000053.4(ATP7B):c.814G>C (p.Val272Leu)
|
|
|
NM_000053.4(ATP7B):c.835A>G (p.Ile279Val)
|
rs1952002052
|
|
NM_000053.4(ATP7B):c.839G>A (p.Gly280Asp)
|
rs1411428188
|
|
NM_000053.4(ATP7B):c.853G>A (p.Val285Ile)
|
|
|
NM_000053.4(ATP7B):c.854T>G (p.Val285Gly)
|
rs1411865806
|
|
NM_000053.4(ATP7B):c.869T>C (p.Val290Ala)
|
|
|
NM_000053.4(ATP7B):c.879G>T (p.Glu293Asp)
|
rs1593789326
|
|
NM_000053.4(ATP7B):c.894A>G (p.Gln298=)
|
|
|
NM_000053.4(ATP7B):c.895G>C (p.Val299Leu)
|
rs146791250
|
|
NM_000053.4(ATP7B):c.913T>C (p.Cys305Arg)
|
|
|
NM_000053.4(ATP7B):c.923C>T (p.Pro308Leu)
|
rs1951995908
|
|
NM_000053.4(ATP7B):c.943A>G (p.Ile315Val)
|
rs745596221
|
|
NM_000053.4(ATP7B):c.958C>T (p.Pro320Ser)
|
|
|
NM_000053.4(ATP7B):c.989G>A (p.Gly330Glu)
|
|
|
NM_000053.4(ATP7B):c.98T>G (p.Met33Arg)
|
|
|
NM_000053.4(ATP7B):c.998G>A (p.Gly333Glu)
|
|
|
NM_000053.4(ATP7B):c.9G>C (p.Glu3Asp)
|
|
|
NM_001406511.1(ATP7B):c.-55+247T>C
|
|
|
NM_001406511.1(ATP7B):c.-55+251C>G
|
|
|
NM_001406511.1(ATP7B):c.-55+258G>A
|
|
|