NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
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.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)
|
rs760713333
|
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.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)
|
rs776668666
|
0.00003
|
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)
|
rs541408630
|
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.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)
|
rs758355520
|
0.00003
|
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)
|
rs121907999
|
0.00003
|
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)
|
rs1555291801
|
0.00002
|
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.676C>T (p.Arg226Trp)
|
rs749626601
|
0.00002
|
NM_000053.4(ATP7B):c.1285+2T>A
|
rs759749626
|
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.1782del (p.Thr593_Tyr594insTer)
|
rs780327716
|
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.1946+6T>C
|
rs751287778
|
0.00001
|
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)
|
rs1474837260
|
0.00001
|
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)
|
rs767218895
|
0.00001
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)
|
rs1394999756
|
0.00001
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
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.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)
|
rs778163447
|
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.3060+5G>T
|
rs1353373400
|
0.00001
|
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)
|
rs886043423
|
0.00001
|
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)
|
rs1395504465
|
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.3305T>C (p.Ile1102Thr)
|
rs560952220
|
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.3741C>G (p.His1247Gln)
|
rs767464491
|
0.00001
|
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)
|
rs769484789
|
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.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.562C>T (p.Gln188Ter)
|
rs1412593296
|
0.00001
|
NM_000053.4(ATP7B):c.104_105insT (p.Lys35fs)
|
rs1316032472
|
|
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)
|
rs778490238
|
|
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)
|
rs1176709391
|
|
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs)
|
rs1593787789
|
|
NM_000053.4(ATP7B):c.1172del (p.Ser391fs)
|
|
|
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.1374_1377del (p.Val459fs)
|
rs1060499593
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)
|
rs1057516418
|
|
NM_000053.4(ATP7B):c.1543+1G>A
|
|
|
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)
|
rs996419100
|
|
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.1908dup (p.Asn637fs)
|
|
|
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.1963del (p.Leu655fs)
|
rs2139612433
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs)
|
rs1555291870
|
|
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.2078C>G (p.Ser693Cys)
|
rs1212479289
|
|
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
|
|
|
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.2131G>A (p.Gly711Arg)
|
rs1394999756
|
|
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)
|
rs1057516380
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)
|
rs1593726081
|
|
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs)
|
rs1555291195
|
|
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)
|
rs1555291147
|
|
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg)
|
rs121907997
|
|
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.2356-2A>G
|
rs2139505830
|
|
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.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.2614_2615del (p.Val872fs)
|
rs2139209584
|
|
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)
|
rs1455758826
|
|
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del)
|
rs2139201690
|
|
NM_000053.4(ATP7B):c.2730+1G>A
|
rs1057516425
|
|
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.2784CAT[2] (p.Ile930del)
|
rs1228359983
|
|
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.2866-2del
|
rs1593681941
|
|
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.3011A>C (p.Gln1004Pro)
|
rs587783307
|
|
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr)
|
rs747584649
|
|
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)
|
rs747584649
|
|
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)
|
rs1555287300
|
|
NM_000053.4(ATP7B):c.3061-12T>A
|
rs1045194246
|
|
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)
|
rs949421614
|
|
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)
|
rs1555286628
|
|
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)
|
rs1957518268
|
|
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.3155C>T (p.Pro1052Leu)
|
rs778543794
|
|
NM_000053.4(ATP7B):c.3168del (p.Leu1057fs)
|
rs2138950870
|
|
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)
|
rs376910645
|
|
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)
|
rs1555286478
|
|
NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe)
|
rs1064797072
|
|
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter)
|
rs1957506216
|
|
NM_000053.4(ATP7B):c.3244-2A>G
|
rs786204584
|
|
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)
|
rs1286080173
|
|
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro)
|
rs1555285891
|
|
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)
|
rs786204483
|
|
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)
|
rs1555285830
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)
|
rs1555285380
|
|
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)
|
rs1057516479
|
|
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
|
rs1387431334
|
|
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.365_366delinsGGGCTTCGAA (p.Glu122fs)
|
|
|
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)
|
rs1486594906
|
|
NM_000053.4(ATP7B):c.3664G>A (p.Asp1222Asn)
|
rs2138663905
|
|
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)
|
rs886042519
|
|
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)
|
rs1957151127
|
|
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)
|
rs1555283994
|
|
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
|
rs758355520
|
|
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)
|
rs778914828
|
|
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)
|
rs373748155
|
|
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)
|
rs1340942427
|
|
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.3904-2del
|
rs1957032734
|
|
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)
|
rs778732681
|
|
NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs)
|
rs2138560807
|
|
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)
|
rs1566441447
|
|
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)
|
rs587783317
|
|
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)
|
rs776848753
|
|
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)
|
rs1444841250
|
|
NM_000053.4(ATP7B):c.4124+1G>A
|
|
|
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)
|
rs2138407151
|
|
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs)
|
rs886041336
|
|
NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter)
|
|
|
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)
|
rs1555282191
|
|
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)
|
rs1345677703
|
|
NM_000053.4(ATP7B):c.51dup
|
rs1954023351
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.528del (p.Ser177fs)
|
rs2140098691
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)
|
rs1952004098
|
|
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)
|
rs1555296356
|
|
NM_000053.4(ATP7B):c.841del (p.Gln281fs)
|
|
|
NM_000053.4(ATP7B):c.956del (p.Pro319fs)
|
rs753674382
|
|
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)
|
rs911589273
|
|