NM_000053.4(ATP7B):c.1707+9T>C
|
rs114449708
|
0.01274
|
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)
|
rs116703544
|
0.00442
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=)
|
rs377267217
|
0.00076
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
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.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=)
|
rs150018860
|
0.00016
|
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly)
|
rs777096464
|
0.00016
|
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)
|
rs193922103
|
0.00015
|
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)
|
rs187046823
|
0.00014
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr)
|
rs200728096
|
0.00011
|
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000053.4(ATP7B):c.3243+5G>A
|
rs373193482
|
0.00010
|
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)
|
rs368545738
|
0.00010
|
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu)
|
rs368381292
|
0.00009
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
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.2731-2A>G
|
rs367956522
|
0.00008
|
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu)
|
rs771789585
|
0.00007
|
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=)
|
rs748003525
|
0.00007
|
NM_000053.4(ATP7B):c.1285+8G>A
|
rs377584333
|
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.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu)
|
rs532177115
|
0.00006
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys)
|
rs372435824
|
0.00006
|
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val)
|
rs200866801
|
0.00006
|
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)
|
rs121908000
|
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.582C>T (p.Pro194=)
|
rs780671732
|
0.00005
|
NM_000053.4(ATP7B):c.814G>A (p.Val272Ile)
|
rs771501259
|
0.00005
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys)
|
rs376565432
|
0.00004
|
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)
|
rs182659444
|
0.00004
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val)
|
rs769949264
|
0.00004
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
NM_000053.4(ATP7B):c.111T>A (p.Phe37Leu)
|
rs748698125
|
0.00003
|
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr)
|
rs578173224
|
0.00003
|
NM_000053.4(ATP7B):c.1873A>G (p.Ile625Val)
|
rs778963465
|
0.00003
|
NM_000053.4(ATP7B):c.2298G>A (p.Thr766=)
|
rs759444110
|
0.00003
|
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)
|
rs137853284
|
0.00003
|
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)
|
rs541408630
|
0.00003
|
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del)
|
rs772383075
|
0.00003
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
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.3576C>T (p.Ile1192=)
|
rs774584291
|
0.00003
|
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr)
|
rs758025913
|
0.00003
|
NM_000053.4(ATP7B):c.3645C>T (p.Asp1215=)
|
rs763228636
|
0.00003
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
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.993C>T (p.Ala331=)
|
rs377294197
|
0.00003
|
NM_000053.4(ATP7B):c.1297A>G (p.Thr433Ala)
|
rs532864884
|
0.00002
|
NM_000053.4(ATP7B):c.1820A>G (p.Lys607Arg)
|
rs775080615
|
0.00002
|
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=)
|
rs756958229
|
0.00002
|
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)
|
rs779323689
|
0.00002
|
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)
|
rs371840514
|
0.00002
|
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)
|
rs749085322
|
0.00002
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
NM_000053.4(ATP7B):c.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.4045G>C (p.Val1349Leu)
|
rs374924611
|
0.00002
|
NM_000053.4(ATP7B):c.4175T>C (p.Met1392Thr)
|
rs199821965
|
0.00002
|
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln)
|
rs769672624
|
0.00002
|
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu)
|
rs201855906
|
0.00001
|
NM_000053.4(ATP7B):c.1101C>T (p.Gly367=)
|
rs759359836
|
0.00001
|
NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val)
|
rs775754066
|
0.00001
|
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val)
|
rs770903362
|
0.00001
|
NM_000053.4(ATP7B):c.1461G>A (p.Pro487=)
|
rs372068316
|
0.00001
|
NM_000053.4(ATP7B):c.1708-1G>C
|
rs137853280
|
0.00001
|
NM_000053.4(ATP7B):c.1708-5T>G
|
rs770829226
|
0.00001
|
NM_000053.4(ATP7B):c.1746dup (p.Glu583fs)
|
rs1566559605
|
0.00001
|
NM_000053.4(ATP7B):c.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.1857C>A (p.Ile619=)
|
rs765501756
|
0.00001
|
NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr)
|
rs377670877
|
0.00001
|
NM_000053.4(ATP7B):c.2095T>A (p.Phe699Ile)
|
rs749972036
|
0.00001
|
NM_000053.4(ATP7B):c.2268G>A (p.Ala756=)
|
rs755387536
|
0.00001
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
0.00001
|
NM_000053.4(ATP7B):c.2320A>G (p.Ile774Val)
|
rs778579276
|
0.00001
|
NM_000053.4(ATP7B):c.2400C>T (p.Ala800=)
|
rs760562006
|
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.2551A>G (p.Met851Val)
|
rs758360345
|
0.00001
|
NM_000053.4(ATP7B):c.2679C>T (p.Asp893=)
|
rs755739707
|
0.00001
|
NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp)
|
rs923227127
|
0.00001
|
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro)
|
rs1555288410
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.2922G>A (p.Thr974=)
|
rs751802421
|
0.00001
|
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)
|
rs201038679
|
0.00001
|
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)
|
rs751078884
|
0.00001
|
NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro)
|
rs373601229
|
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.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
NM_000053.4(ATP7B):c.3452G>C (p.Arg1151Pro)
|
rs377297166
|
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.3892G>A (p.Val1298Ile)
|
rs753044473
|
0.00001
|
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)
|
rs1033235740
|
0.00001
|
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)
|
rs779494870
|
0.00001
|
NM_000053.4(ATP7B):c.4030A>C (p.Met1344Leu)
|
rs947156425
|
0.00001
|
NM_000053.4(ATP7B):c.4038C>T (p.Ile1346=)
|
rs200582826
|
0.00001
|
NM_000053.4(ATP7B):c.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.459C>T (p.Thr153=)
|
rs1009053966
|
0.00001
|
NM_000053.4(ATP7B):c.497G>A (p.Arg166Gln)
|
rs150490315
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000053.4(ATP7B):c.769G>T (p.Val257Phe)
|
rs373242731
|
0.00001
|
GRCh37/hg19 13q14.3(chr13:52548050-52549324)
|
|
|
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)
|
rs1176709391
|
|
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser)
|
rs763788226
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)
|
rs753962912
|
|
NM_000053.4(ATP7B):c.1850A>G (p.Asp617Gly)
|
rs371038011
|
|
NM_000053.4(ATP7B):c.1869+18_1869+20del
|
rs758773114
|
|
NM_000053.4(ATP7B):c.186C>T (p.Val62=)
|
rs1187762934
|
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.1964T>A (p.Leu655Gln)
|
rs2139612314
|
|
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=)
|
rs574041847
|
|
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val)
|
rs1555291836
|
|
NM_000053.4(ATP7B):c.2122-1G>A
|
rs1319653818
|
|
NM_000053.4(ATP7B):c.213_214del (p.Val73fs)
|
rs1445951068
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
NM_000053.4(ATP7B):c.245A>G (p.Asn82Ser)
|
rs1555296815
|
|
NM_000053.4(ATP7B):c.2480G>A (p.Arg827Gln)
|
rs368589213
|
|
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu)
|
rs368589213
|
|
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)
|
rs1566498495
|
|
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)
|
rs1057517310
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)
|
rs762031690
|
|
NM_000053.4(ATP7B):c.3244-2A>G
|
rs786204584
|
|
NM_000053.4(ATP7B):c.3556+1G>T
|
rs184388696
|
|
NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=)
|
rs755324767
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
NM_000053.4(ATP7B):c.3700-1G>A
|
rs1555284021
|
|
NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val)
|
rs755202606
|
|
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs)
|
rs1957043255
|
|
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)
|
rs1340942427
|
|
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
|
rs749472361
|
|
NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly)
|
rs1210164486
|
|
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.4112T>C (p.Leu1371Pro)
|
rs1444841250
|
|
NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=)
|
rs747816425
|
|
NM_000053.4(ATP7B):c.483T>C (p.Ile161=)
|
rs2140100275
|
|
NM_000053.4(ATP7B):c.51dup
|
rs1954023351
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
NM_000053.4(ATP7B):c.845del (p.Leu282fs)
|
rs193922111
|
|
NM_000053.4(ATP7B):c.956del (p.Pro319fs)
|
rs753674382
|
|