NM_000053.4(ATP7B):c.3G>A (p.Met1Ile)
|
rs750530407
|
0.00011
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00008
|
NM_000053.4(ATP7B):c.-676A>G
|
rs1021025464
|
0.00006
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
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.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)
|
rs778749563
|
0.00003
|
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)
|
rs779323689
|
0.00002
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00002
|
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)
|
rs371840514
|
0.00002
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)
|
rs568009639
|
0.00002
|
NM_000053.4(ATP7B):c.1285+2T>A
|
rs759749626
|
0.00001
|
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)
|
rs780327716
|
0.00001
|
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)
|
rs1474837260
|
0.00001
|
NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter)
|
rs1180133690
|
0.00001
|
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)
|
rs751798708
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)
|
rs777629392
|
0.00001
|
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)
|
rs786204643
|
0.00001
|
NM_000053.4(ATP7B):c.2575+1G>C
|
rs766149114
|
0.00001
|
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)
|
rs751078884
|
0.00001
|
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)
|
rs1412025509
|
0.00001
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
NM_000053.4(ATP7B):c.3243+1G>A
|
rs748819198
|
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.331C>T (p.Gln111Ter)
|
rs774221179
|
0.00001
|
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)
|
rs1213481140
|
0.00001
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)
|
rs769484789
|
0.00001
|
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)
|
rs193922110
|
0.00001
|
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)
|
rs1555282316
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000053.4(ATP7B):c.52-1G>T
|
rs1057517351
|
0.00001
|
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)
|
rs1412593296
|
0.00001
|
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)
|
rs1057516516
|
|
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)
|
rs778490238
|
|
NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer)
|
rs1555296015
|
|
NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs)
|
rs1057517141
|
|
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs)
|
rs1057517444
|
|
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)
|
rs1057516305
|
|
NM_000053.4(ATP7B):c.1392dup (p.Arg465fs)
|
rs1555295017
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)
|
rs1057516418
|
|
NM_000053.4(ATP7B):c.1544-2A>C
|
rs1555294398
|
|
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter)
|
rs773385516
|
|
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)
|
rs996419100
|
|
NM_000053.4(ATP7B):c.1700_1707+16del
|
rs1555294199
|
|
NM_000053.4(ATP7B):c.1708-2A>G
|
rs1057517024
|
|
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)
|
rs1057516893
|
|
NM_000053.4(ATP7B):c.1739del (p.His580fs)
|
rs1555293357
|
|
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)
|
rs753962912
|
|
NM_000053.4(ATP7B):c.174dup (p.Thr59fs)
|
rs1057516561
|
|
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs)
|
rs1057516940
|
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs)
|
rs1555291870
|
|
NM_000053.4(ATP7B):c.2035del (p.His679fs)
|
rs786204764
|
|
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter)
|
rs1555291848
|
|
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)
|
rs121908001
|
|
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs)
|
rs1555291784
|
|
NM_000053.4(ATP7B):c.2121+3A>G
|
rs1248002612
|
|
NM_000053.4(ATP7B):c.2122-1G>A
|
rs1319653818
|
|
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)
|
rs1057516380
|
|
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs)
|
rs1555291207
|
|
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs)
|
rs1555291195
|
|
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)
|
rs1057516844
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
NM_000053.4(ATP7B):c.2356-1G>A
|
rs1555290925
|
|
NM_000053.4(ATP7B):c.2356-1G>C
|
rs1555290925
|
|
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)
|
rs770020484
|
|
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs)
|
rs1555290810
|
|
NM_000053.4(ATP7B):c.2447+1del
|
rs1057516732
|
|
NM_000053.4(ATP7B):c.2447+2T>G
|
rs1555290800
|
|
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)
|
rs777362050
|
|
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)
|
rs1057520235
|
|
NM_000053.4(ATP7B):c.2575+1G>A
|
rs766149114
|
|
NM_000053.4(ATP7B):c.2576-2A>G
|
rs757265256
|
|
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro)
|
rs376355660
|
|
NM_000053.4(ATP7B):c.2730+1G>A
|
rs1057516425
|
|
NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter)
|
rs1555288479
|
|
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)
|
rs540935874
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.2810del (p.Val937fs)
|
rs1057516643
|
|
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)
|
rs1057517310
|
|
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs)
|
rs1555288385
|
|
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)
|
rs1038582488
|
|
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)
|
rs199623434
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000053.4(ATP7B):c.3061-12T>A
|
rs1045194246
|
|
NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg)
|
rs1555286633
|
|
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)
|
rs1555286628
|
|
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)
|
rs753594031
|
|
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)
|
rs753236073
|
|
NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs)
|
rs1555286522
|
|
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)
|
rs376910645
|
|
NM_000053.4(ATP7B):c.3244-2A>G
|
rs786204584
|
|
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)
|
rs1286080173
|
|
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)
|
rs786204483
|
|
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)
|
rs775541743
|
|
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)
|
rs1555285830
|
|
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)
|
rs1555285380
|
|
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)
|
rs377297166
|
|
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)
|
rs1555285311
|
|
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)
|
rs1057516479
|
|
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)
|
rs748924063
|
|
NM_000053.4(ATP7B):c.3556+1G>T
|
rs184388696
|
|
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)
|
rs786204658
|
|
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)
|
rs781266802
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)
|
rs1486594906
|
|
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)
|
rs886042519
|
|
NM_000053.4(ATP7B):c.3700-1G>A
|
rs1555284021
|
|
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)
|
rs1555283916
|
|
NM_000053.4(ATP7B):c.3800del (p.Asp1267fs)
|
rs1057516740
|
|
NM_000053.4(ATP7B):c.3809del (p.Asn1270fs)
|
rs1555283900
|
|
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
|
rs758355520
|
|
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs)
|
rs1057517384
|
|
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
|
rs749472361
|
|
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs)
|
rs1057516227
|
|
NM_000053.4(ATP7B):c.3948del (p.Thr1317fs)
|
rs1057516228
|
|
NM_000053.4(ATP7B):c.4022-2A>C
|
rs1555282816
|
|
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)
|
rs776848753
|
|
NM_000053.4(ATP7B):c.4125-2A>G
|
rs1555282347
|
|
NM_000053.4(ATP7B):c.4242del (p.Arg1415fs)
|
rs1057517191
|
|
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)
|
rs1555282191
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter)
|
rs1555296472
|
|
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter)
|
rs1555296414
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)
|
rs1555296356
|
|