NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_000053.4(ATP7B):c.2448-25G>A
|
rs9526811
|
0.35419
|
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)
|
rs1801246
|
0.04852
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
NM_000053.4(ATP7B):c.1707+9T>C
|
rs114449708
|
0.01274
|
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)
|
rs116091486
|
0.01159
|
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=)
|
rs59120265
|
0.01110
|
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)
|
rs114771537
|
0.01071
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00732
|
NM_000053.4(ATP7B):c.-54G>T
|
rs115564351
|
0.00634
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_000053.4(ATP7B):c.1707+29dup
|
rs113829533
|
0.00273
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu)
|
rs183044693
|
0.00080
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)
|
rs199807461
|
0.00066
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met)
|
rs192957846
|
0.00041
|
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)
|
rs199875471
|
0.00041
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
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.3324C>T (p.Asn1108=)
|
rs372456815
|
0.00029
|
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.3105C>T (p.Gly1035=)
|
rs200324179
|
0.00022
|
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)
|
rs376398239
|
0.00019
|
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)
|
rs757549770
|
0.00018
|
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=)
|
rs762782389
|
0.00017
|
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly)
|
rs777096464
|
0.00016
|
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp)
|
rs557577836
|
0.00016
|
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)
|
rs200606656
|
0.00016
|
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)
|
rs193922103
|
0.00015
|
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)
|
rs202218969
|
0.00015
|
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)
|
rs187046823
|
0.00014
|
NM_000053.4(ATP7B):c.2475G>A (p.Val825=)
|
rs373528664
|
0.00014
|
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=)
|
rs369620062
|
0.00014
|
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)
|
rs200563529
|
0.00014
|
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)
|
rs121907993
|
0.00013
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr)
|
rs370203816
|
0.00011
|
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=)
|
rs370476756
|
0.00011
|
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr)
|
rs745866259
|
0.00010
|
NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val)
|
rs371458882
|
0.00010
|
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu)
|
rs368381292
|
0.00009
|
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=)
|
rs764441090
|
0.00009
|
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)
|
rs137853283
|
0.00009
|
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)
|
rs193922109
|
0.00009
|
NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr)
|
rs531199827
|
0.00009
|
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)
|
rs200605351
|
0.00009
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
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.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)
|
rs539585071
|
0.00006
|
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)
|
rs121907996
|
0.00006
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu)
|
rs532177115
|
0.00006
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)
|
rs546721020
|
0.00006
|
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp)
|
rs373762572
|
0.00006
|
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)
|
rs755476114
|
0.00006
|
NM_000053.4(ATP7B):c.589C>T (p.Leu197Phe)
|
rs745909234
|
0.00006
|
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)
|
rs121908000
|
0.00005
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)
|
rs368902724
|
0.00005
|
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)
|
rs764131178
|
0.00005
|
NM_000053.4(ATP7B):c.3376C>T (p.His1126Tyr)
|
rs373698024
|
0.00005
|
NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp)
|
rs543334965
|
0.00005
|
NM_000053.4(ATP7B):c.814G>A (p.Val272Ile)
|
rs771501259
|
0.00005
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
NM_000053.4(ATP7B):c.1605G>A (p.Glu535=)
|
rs762567255
|
0.00004
|
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter)
|
rs766906034
|
0.00004
|
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys)
|
rs376565432
|
0.00004
|
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=)
|
rs770787421
|
0.00004
|
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)
|
rs182659444
|
0.00004
|
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)
|
rs60431989
|
0.00004
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met)
|
rs370713752
|
0.00004
|
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)
|
rs200597654
|
0.00004
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)
|
rs767721448
|
0.00004
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr)
|
rs578173224
|
0.00003
|
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)
|
rs551051945
|
0.00003
|
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=)
|
rs138962570
|
0.00003
|
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)
|
rs776668666
|
0.00003
|
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)
|
rs137853284
|
0.00003
|
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)
|
rs541408630
|
0.00003
|
NM_000053.4(ATP7B):c.2447+8A>G
|
rs747586752
|
0.00003
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00003
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile)
|
rs761147984
|
0.00003
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=)
|
rs370527611
|
0.00003
|
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His)
|
rs773917820
|
0.00003
|
NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val)
|
rs770428835
|
0.00003
|
NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr)
|
rs777879359
|
0.00003
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)
|
rs758355520
|
0.00003
|
NM_000053.4(ATP7B):c.550G>A (p.Val184Ile)
|
rs199634511
|
0.00003
|
NM_000053.4(ATP7B):c.993C>T (p.Ala331=)
|
rs377294197
|
0.00003
|
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)
|
rs201254466
|
0.00002
|
NM_000053.4(ATP7B):c.1297A>G (p.Thr433Ala)
|
rs532864884
|
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.227T>C (p.Ile76Thr)
|
rs747911411
|
0.00002
|
NM_000053.4(ATP7B):c.2374C>T (p.Leu792=)
|
rs757244072
|
0.00002
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00002
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly)
|
rs372042739
|
0.00002
|
NM_000053.4(ATP7B):c.389C>G (p.Ala130Gly)
|
rs753045361
|
0.00002
|
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=)
|
rs564541246
|
0.00002
|
NM_000053.4(ATP7B):c.4175T>C (p.Met1392Thr)
|
rs199821965
|
0.00002
|
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)
|
rs756718353
|
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.1127C>T (p.Ser376Phe)
|
rs762995412
|
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.1326G>T (p.Gly442=)
|
rs1371066375
|
0.00001
|
NM_000053.4(ATP7B):c.15G>A (p.Glu5=)
|
rs751634415
|
0.00001
|
NM_000053.4(ATP7B):c.1708-1G>C
|
rs137853280
|
0.00001
|
NM_000053.4(ATP7B):c.1708-5T>G
|
rs770829226
|
0.00001
|
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)
|
rs797045402
|
0.00001
|
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)
|
rs375689672
|
0.00001
|
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
|
rs374172791
|
0.00001
|
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)
|
rs752850609
|
0.00001
|
NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr)
|
rs377670877
|
0.00001
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)
|
rs372436901
|
0.00001
|
NM_000053.4(ATP7B):c.2095T>A (p.Phe699Ile)
|
rs749972036
|
0.00001
|
NM_000053.4(ATP7B):c.2138A>G (p.Tyr713Cys)
|
rs756883878
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)
|
rs533967323
|
0.00001
|
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=)
|
rs755237462
|
0.00001
|
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=)
|
rs759213674
|
0.00001
|
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu)
|
rs768671894
|
0.00001
|
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)
|
rs777629392
|
0.00001
|
NM_000053.4(ATP7B):c.2575+4A>G
|
rs761060032
|
0.00001
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=)
|
rs896503662
|
0.00001
|
NM_000053.4(ATP7B):c.2659G>A (p.Ala887Thr)
|
rs768479687
|
0.00001
|
NM_000053.4(ATP7B):c.265A>G (p.Met89Val)
|
rs372516400
|
0.00001
|
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)
|
rs146232015
|
0.00001
|
NM_000053.4(ATP7B):c.2756G>A (p.Arg919Gln)
|
rs574579593
|
0.00001
|
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser)
|
rs767877891
|
0.00001
|
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)
|
rs201038679
|
0.00001
|
NM_000053.4(ATP7B):c.2985C>T (p.Val995=)
|
rs758641148
|
0.00001
|
NM_000053.4(ATP7B):c.3060+5G>T
|
rs1353373400
|
0.00001
|
NM_000053.4(ATP7B):c.3061A>G (p.Ile1021Val)
|
rs776490710
|
0.00001
|
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)
|
rs750891085
|
0.00001
|
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=)
|
rs1192564410
|
0.00001
|
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)
|
rs1206016866
|
0.00001
|
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)
|
rs753250853
|
0.00001
|
NM_000053.4(ATP7B):c.3291G>A (p.Val1097=)
|
rs766632973
|
0.00001
|
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)
|
rs560952220
|
0.00001
|
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)
|
rs755817220
|
0.00001
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
NM_000053.4(ATP7B):c.3557-8C>T
|
rs765668065
|
0.00001
|
NM_000053.4(ATP7B):c.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.3700-7G>A
|
rs756742483
|
0.00001
|
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe)
|
rs193922108
|
0.00001
|
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)
|
rs374628199
|
0.00001
|
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)
|
rs769484789
|
0.00001
|
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)
|
rs375007352
|
0.00001
|
NM_000053.4(ATP7B):c.3787G>A (p.Ala1263Thr)
|
rs781514805
|
0.00001
|
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)
|
rs373748155
|
0.00001
|
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)
|
rs779494870
|
0.00001
|
NM_000053.4(ATP7B):c.4030A>C (p.Met1344Leu)
|
rs947156425
|
0.00001
|
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile)
|
rs759551693
|
0.00001
|
NM_000053.4(ATP7B):c.4102C>G (p.Leu1368Val)
|
rs768467658
|
0.00001
|
NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=)
|
rs779979628
|
0.00001
|
NM_000053.4(ATP7B):c.4272T>C (p.Tyr1424=)
|
rs780613139
|
0.00001
|
NM_000053.4(ATP7B):c.4295C>T (p.Ser1432Phe)
|
rs375692175
|
0.00001
|
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln)
|
rs201483366
|
0.00001
|
NM_000053.4(ATP7B):c.4338C>T (p.Asp1446=)
|
rs760661082
|
0.00001
|
NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro)
|
rs377492122
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000053.4(ATP7B):c.618T>C (p.Phe206=)
|
rs764353593
|
0.00001
|
NM_000053.4(ATP7B):c.623C>T (p.Ala208Val)
|
rs754738204
|
0.00001
|
NM_000053.4(ATP7B):c.950C>A (p.Ala317Glu)
|
rs746932888
|
0.00001
|
NM_000053.4(ATP7B):c.968T>C (p.Phe323Ser)
|
rs1186805034
|
0.00001
|
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=)
|
rs1951990469
|
|
NM_000053.4(ATP7B):c.1092C>G (p.Ala364=)
|
rs1482077950
|
|
NM_000053.4(ATP7B):c.1104G>A (p.Met368Ile)
|
rs1476381647
|
|
NM_000053.4(ATP7B):c.113C>T (p.Ala38Val)
|
rs935963471
|
|
NM_000053.4(ATP7B):c.1164G>A (p.Gln388=)
|
rs2140070526
|
|
NM_000053.4(ATP7B):c.1191G>T (p.Gly397=)
|
rs561017302
|
|
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr)
|
rs1801243
|
|
NM_000053.4(ATP7B):c.1285+5G>C
|
rs370579582
|
|
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.1401T>G (p.Pro467=)
|
rs529527733
|
|
NM_000053.4(ATP7B):c.1402G>A (p.Ala468Thr)
|
rs760282247
|
|
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs)
|
rs772000260
|
|
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter)
|
rs1449610384
|
|
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)
|
rs1057516893
|
|
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)
|
rs753962912
|
|
NM_000053.4(ATP7B):c.1762A>C (p.Arg588=)
|
rs1566559391
|
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=)
|
rs574041847
|
|
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)
|
rs779904655
|
|
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)
|
rs121908001
|
|
NM_000053.4(ATP7B):c.2121+5A>G
|
rs763275345
|
|
NM_000053.4(ATP7B):c.2121+6T>G
|
rs1958633477
|
|
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=)
|
rs779988850
|
|
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=)
|
rs757991922
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2314G>A (p.Val772Met)
|
rs554893410
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)
|
rs28942074
|
|
NM_000053.4(ATP7B):c.2356-9A>G
|
rs1339073174
|
|
NM_000053.4(ATP7B):c.2366C>T (p.Ser789Leu)
|
rs1593722956
|
|
NM_000053.4(ATP7B):c.2447+8_2447+9insAA
|
rs746283578
|
|
NM_000053.4(ATP7B):c.2532del (p.Val845fs)
|
rs755709270
|
|
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
|
rs752634617
|
|
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)
|
rs540935874
|
|
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del)
|
rs1228359983
|
|
NM_000053.4(ATP7B):c.2792T>C (p.Met931Thr)
|
rs762875224
|
|
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)
|
rs1566498495
|
|
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)
|
rs746358240
|
|
NM_000053.4(ATP7B):c.2997C>G (p.Thr999=)
|
rs199581971
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)
|
rs747584649
|
|
NM_000053.4(ATP7B):c.3060G>T (p.Lys1020Asn)
|
rs1957646412
|
|
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)
|
rs1957518268
|
|
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)
|
rs762031690
|
|
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)
|
rs753236073
|
|
NM_000053.4(ATP7B):c.3244-2A>G
|
rs786204584
|
|
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)
|
rs1286080173
|
|
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly)
|
rs1022670769
|
|
NM_000053.4(ATP7B):c.3320_3322del (p.Ser1107del)
|
rs760772190
|
|
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)
|
rs137853281
|
|
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)
|
rs377297166
|
|
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
|
rs1387431334
|
|
NM_000053.4(ATP7B):c.360C>T (p.Gly120=)
|
rs1952028232
|
|
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)
|
rs377267217
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
NM_000053.4(ATP7B):c.3679G>A (p.Ala1227Thr)
|
rs1957152812
|
|
NM_000053.4(ATP7B):c.3699+3A>G
|
rs1459548901
|
|
NM_000053.4(ATP7B):c.3756C>T (p.Val1252=)
|
rs1395442643
|
|
NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val)
|
rs755202606
|
|
NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro)
|
rs1257330000
|
|
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
|
rs749472361
|
|
NM_000053.4(ATP7B):c.3965G>A (p.Arg1322His)
|
rs753330854
|
|
NM_000053.4(ATP7B):c.3982G>A (p.Ala1328Thr)
|
rs1333619338
|
|
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)
|
rs786204578
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
NM_000053.4(ATP7B):c.525dup (p.Val176fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.540C>T (p.Asn180=)
|
rs537892210
|
|
NM_000053.4(ATP7B):c.690T>C (p.Thr230=)
|
rs1033565003
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.78C>G (p.Thr26=)
|
rs1227368750
|
|
NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)
|
rs1566598496
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
NM_000053.4(ATP7B):c.845del (p.Leu282fs)
|
rs193922111
|
|
NM_000053.4(ATP7B):c.879G>A (p.Glu293=)
|
rs1593789326
|
|
NM_000053.4(ATP7B):c.943A>G (p.Ile315Val)
|
rs745596221
|
|
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)
|
rs761084829
|
|