NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
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.3583G>A (p.Ala1195Thr)
|
rs202218969
|
0.00015
|
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.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.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.2479C>T (p.Arg827Trp)
|
rs539585071
|
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.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
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.3426G>C (p.Gln1142His)
|
rs778749563
|
0.00003
|
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)
|
rs758355520
|
0.00003
|
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)
|
rs1555291801
|
0.00002
|
NM_000053.4(ATP7B):c.2575+5G>C
|
rs551030054
|
0.00002
|
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)
|
rs779323689
|
0.00002
|
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala)
|
rs777791532
|
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.3505A>G (p.Met1169Val)
|
rs749085322
|
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.588C>A (p.Asp196Glu)
|
rs756718353
|
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.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.2222dup (p.Tyr741Ter)
|
rs1180133690
|
0.00001
|
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val)
|
rs769927137
|
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.2355+4A>G
|
rs776572343
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000053.4(ATP7B):c.2485G>A (p.Asp829Asn)
|
rs181388674
|
0.00001
|
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr)
|
rs1017756733
|
0.00001
|
NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter)
|
rs780292767
|
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.2606G>A (p.Gly869Glu)
|
rs775553302
|
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.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)
|
rs778163447
|
0.00001
|
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)
|
rs193922104
|
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.3109C>T (p.Pro1037Ser)
|
rs750891085
|
0.00001
|
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)
|
rs1412025509
|
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.3282C>G (p.Phe1094Leu)
|
rs1957397703
|
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.3551T>C (p.Ile1184Thr)
|
rs755817220
|
0.00001
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)
|
rs374628199
|
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.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr)
|
rs548512104
|
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.4075A>G (p.Met1359Val)
|
rs1956914257
|
0.00001
|
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys)
|
rs776848753
|
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
|
NC_000013.10:g.(52549305_52585422)_(52585631_?)del
|
|
|
NC_000013.10:g.(?_52511412)_(52513329_?)del
|
|
|
NC_000013.10:g.(?_52544712)_(52545071_?)del
|
|
|
NC_000013.11:g.(?_51937256)_(51939213_?)del
|
|
|
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)
|
rs1057516516
|
|
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.1155_1156del (p.Val387fs)
|
|
|
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs)
|
rs1593787789
|
|
NM_000053.4(ATP7B):c.1172del (p.Ser391fs)
|
|
|
NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer)
|
rs1555296015
|
|
NM_000053.4(ATP7B):c.1286-1G>T
|
rs2139975355
|
|
NM_000053.4(ATP7B):c.132del (p.Gly43_Tyr44insTer)
|
|
|
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.1360dup (p.Thr454fs)
|
|
|
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.1389_1405del (p.Gly464fs)
|
rs1593775055
|
|
NM_000053.4(ATP7B):c.1392dup (p.Arg465fs)
|
rs1555295017
|
|
NM_000053.4(ATP7B):c.1397_1403del (p.Leu466fs)
|
|
|
NM_000053.4(ATP7B):c.1465A>T (p.Lys489Ter)
|
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser)
|
rs1566580253
|
|
NM_000053.4(ATP7B):c.1475del (p.Leu492fs)
|
|
|
NM_000053.4(ATP7B):c.1493C>T (p.Thr498Ile)
|
rs2139962593
|
|
NM_000053.4(ATP7B):c.1497T>A (p.Cys499Ter)
|
|
|
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)
|
rs1057516418
|
|
NM_000053.4(ATP7B):c.1543+1G>A
|
|
|
NM_000053.4(ATP7B):c.1544-1G>A
|
rs1951686649
|
|
NM_000053.4(ATP7B):c.1544-2A>C
|
rs1555294398
|
|
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter)
|
rs773385516
|
|
NM_000053.4(ATP7B):c.1580del (p.Lys527fs)
|
|
|
NM_000053.4(ATP7B):c.1594T>C (p.Tyr532His)
|
|
|
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys)
|
rs375071383
|
|
NM_000053.4(ATP7B):c.1596T>A (p.Tyr532Ter)
|
rs1951683498
|
|
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu)
|
rs572122562
|
|
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)
|
rs996419100
|
|
NM_000053.4(ATP7B):c.1658C>A (p.Ala553Glu)
|
rs1179062239
|
|
NM_000053.4(ATP7B):c.1675dup (p.Tyr559fs)
|
|
|
NM_000053.4(ATP7B):c.167dup (p.Val57fs)
|
|
|
NM_000053.4(ATP7B):c.1699G>T (p.Glu567Ter)
|
rs1454088856
|
|
NM_000053.4(ATP7B):c.1700_1707+16del
|
rs1555294199
|
|
NM_000053.4(ATP7B):c.1707+1G>A
|
rs377001615
|
|
NM_000053.4(ATP7B):c.1708-2A>G
|
rs1057517024
|
|
NM_000053.4(ATP7B):c.1708-34G>A
|
rs780389157
|
|
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)
|
rs1057516893
|
|
NM_000053.4(ATP7B):c.1727_1728del (p.Ala576fs)
|
|
|
NM_000053.4(ATP7B):c.1738del (p.His580fs)
|
|
|
NM_000053.4(ATP7B):c.1739del (p.His580fs)
|
rs1555293357
|
|
NM_000053.4(ATP7B):c.1740del (p.His580fs)
|
rs2139777345
|
|
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)
|
rs753962912
|
|
NM_000053.4(ATP7B):c.174dup (p.Thr59fs)
|
rs1057516561
|
|
NM_000053.4(ATP7B):c.1781_1797del (p.Tyr594fs)
|
|
|
NM_000053.4(ATP7B):c.1811C>A (p.Ala604Asp)
|
rs959916899
|
|
NM_000053.4(ATP7B):c.1819A>T (p.Lys607Ter)
|
rs1951466736
|
|
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs)
|
rs1057516940
|
|
NM_000053.4(ATP7B):c.1841G>A (p.Gly614Asp)
|
rs1951465769
|
|
NM_000053.4(ATP7B):c.1869+1G>A
|
|
|
NM_000053.4(ATP7B):c.1869+5_1869+8del
|
rs2139767189
|
|
NM_000053.4(ATP7B):c.1870-1G>C
|
|
|
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.1946+1G>A
|
|
|
NM_000053.4(ATP7B):c.1946+1del
|
rs1958764803
|
|
NM_000053.4(ATP7B):c.1947-19T>A
|
rs1593733949
|
|
NM_000053.4(ATP7B):c.1947-1G>C
|
rs1405260211
|
|
NM_000053.4(ATP7B):c.1954A>T (p.Lys652Ter)
|
|
|
NM_000053.4(ATP7B):c.1963del (p.Leu655fs)
|
rs2139612433
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)
|
rs587783301
|
|
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.2078C>A (p.Ser693Tyr)
|
rs1212479289
|
|
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.2108G>T (p.Cys703Phe)
|
|
|
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
|
|
|
NM_000053.4(ATP7B):c.2121+1G>A
|
rs751235573
|
|
NM_000053.4(ATP7B):c.2121+3A>G
|
rs1248002612
|
|
NM_000053.4(ATP7B):c.2122-1G>A
|
rs1319653818
|
|
NM_000053.4(ATP7B):c.2122-3C>T
|
rs1593726901
|
|
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala)
|
rs1555291285
|
|
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)
|
rs1394999756
|
|
NM_000053.4(ATP7B):c.2132G>A (p.Gly711Glu)
|
rs2139545313
|
|
NM_000053.4(ATP7B):c.2152del (p.Ala718fs)
|
|
|
NM_000053.4(ATP7B):c.2152delinsTCC (p.Ala718fs)
|
|
|
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)
|
rs1057516380
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
NM_000053.4(ATP7B):c.2182A>G (p.Asn728Asp)
|
|
|
NM_000053.4(ATP7B):c.2185A>G (p.Met729Val)
|
|
|
NM_000053.4(ATP7B):c.218_219del (p.Val73fs)
|
|
|
NM_000053.4(ATP7B):c.220A>T (p.Lys74Ter)
|
rs1952035259
|
|
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs)
|
rs1555291207
|
|
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.2241C>T (p.Ile747=)
|
rs757991922
|
|
NM_000053.4(ATP7B):c.2241_2242insAG (p.Leu748fs)
|
|
|
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu)
|
rs766907687
|
|
NM_000053.4(ATP7B):c.2286dup (p.Phe763fs)
|
|
|
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)
|
rs1555291147
|
|
NM_000053.4(ATP7B):c.2295C>G (p.Asp765Glu)
|
rs774769813
|
|
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg)
|
rs121907997
|
|
NM_000053.4(ATP7B):c.229G>T (p.Glu77Ter)
|
rs1952034577
|
|
NM_000053.4(ATP7B):c.2300C>G (p.Pro767Arg)
|
rs776668666
|
|
NM_000053.4(ATP7B):c.2303C>G (p.Pro768Arg)
|
rs1057516844
|
|
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)
|
rs1057516844
|
|
NM_000053.4(ATP7B):c.2307G>T (p.Met769Ile)
|
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
NM_000053.4(ATP7B):c.2337G>C (p.Trp779Cys)
|
rs137853282
|
|
NM_000053.4(ATP7B):c.2355+1G>A
|
|
|
NM_000053.4(ATP7B):c.2356-1G>A
|
rs1555290925
|
|
NM_000053.4(ATP7B):c.2356-1G>C
|
rs1555290925
|
|
NM_000053.4(ATP7B):c.2356-2A>G
|
rs2139505830
|
|
NM_000053.4(ATP7B):c.2356-2A>T
|
|
|
NM_000053.4(ATP7B):c.2388_2389del (p.Met796fs)
|
rs2139503242
|
|
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.2447+5G>T
|
|
|
NM_000053.4(ATP7B):c.2485G>C (p.Asp829His)
|
|
|
NM_000053.4(ATP7B):c.2486A>T (p.Asp829Val)
|
|
|
NM_000053.4(ATP7B):c.2506G>A (p.Gly836Arg)
|
rs2139228853
|
|
NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu)
|
rs773809011
|
|
NM_000053.4(ATP7B):c.2512_2513del (p.Lys838fs)
|
|
|
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)
|
rs777362050
|
|
NM_000053.4(ATP7B):c.2527G>A (p.Gly843Arg)
|
|
|
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
|
|
|
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
|
rs752634617
|
|
NM_000053.4(ATP7B):c.2561A>G (p.Glu854Gly)
|
|
|
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)
|
rs1057520235
|
|
NM_000053.4(ATP7B):c.2572A>G (p.Thr858Ala)
|
rs2139220914
|
|
NM_000053.4(ATP7B):c.2575+1G>A
|
rs766149114
|
|
NM_000053.4(ATP7B):c.2576-2A>G
|
rs757265256
|
|
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs)
|
rs2139209584
|
|
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro)
|
rs376355660
|
|
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)
|
rs1455758826
|
|
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser)
|
rs1455758826
|
|
NM_000053.4(ATP7B):c.2663C>T (p.Thr888Ile)
|
|
|
NM_000053.4(ATP7B):c.2668G>T (p.Val890Leu)
|
|
|
NM_000053.4(ATP7B):c.2673del (p.Asn892fs)
|
|
|
NM_000053.4(ATP7B):c.2680A>G (p.Thr894Ala)
|
|
|
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)
|
rs1340729837
|
|
NM_000053.4(ATP7B):c.2687del (p.Leu896fs)
|
|
|
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.2730+2T>A
|
rs2139201007
|
|
NM_000053.4(ATP7B):c.2730+2T>C
|
rs2139201007
|
|
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.2762G>T (p.Ser921Ile)
|
|
|
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.2827G>T (p.Gly943Cys)
|
rs28942076
|
|
NM_000053.4(ATP7B):c.2866-2del
|
rs1593681941
|
|
NM_000053.4(ATP7B):c.2885_2895del (p.Ser962fs)
|
|
|
NM_000053.4(ATP7B):c.2906G>C (p.Arg969Pro)
|
rs121907996
|
|
NM_000053.4(ATP7B):c.2915_2916delinsA (p.Phe972fs)
|
|
|
NM_000053.4(ATP7B):c.291dup (p.Ala98fs)
|
|
|
NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe)
|
rs778163447
|
|
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)
|
rs1038582488
|
|
NM_000053.4(ATP7B):c.2947_2950del (p.Cys983fs)
|
|
|
NM_000053.4(ATP7B):c.2949C>A (p.Cys983Ter)
|
rs1957660801
|
|
NM_000053.4(ATP7B):c.2957C>T (p.Ser986Phe)
|
|
|
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)
|
rs199623434
|
|
NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu)
|
rs1057518867
|
|
NM_000053.4(ATP7B):c.2963G>T (p.Gly988Val)
|
|
|
NM_000053.4(ATP7B):c.2964del (p.Leu989fs)
|
|
|
NM_000053.4(ATP7B):c.2971A>G (p.Thr991Ala)
|
rs1476409946
|
|
NM_000053.4(ATP7B):c.2976del (p.Thr993fs)
|
|
|
NM_000053.4(ATP7B):c.2986A>G (p.Met996Val)
|
|
|
NM_000053.4(ATP7B):c.2987del (p.Met996fs)
|
rs2139054241
|
|
NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val)
|
|
|
NM_000053.4(ATP7B):c.3007G>C (p.Ala1003Pro)
|
rs201497300
|
|
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.3027_3028del (p.Lys1010fs)
|
|
|
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.3041C>T (p.Pro1014Leu)
|
rs2139048200
|
|
NM_000053.4(ATP7B):c.3044T>C (p.Leu1015Pro)
|
|
|
NM_000053.4(ATP7B):c.3053C>A (p.Ala1018Glu)
|
|
|
NM_000053.4(ATP7B):c.3059A>G (p.Lys1020Arg)
|
rs2139046115
|
|
NM_000053.4(ATP7B):c.3061-12T>A
|
rs1045194246
|
|
NM_000053.4(ATP7B):c.3061-3C>A
|
|
|
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)
|
rs949421614
|
|
NM_000053.4(ATP7B):c.306T>A (p.Tyr102Ter)
|
|
|
NM_000053.4(ATP7B):c.3074T>A (p.Met1025Lys)
|
rs1555286633
|
|
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.3088G>A (p.Gly1030Ser)
|
rs1957518268
|
|
NM_000053.4(ATP7B):c.3089G>T (p.Gly1030Val)
|
|
|
NM_000053.4(ATP7B):c.3104G>A (p.Gly1035Asp)
|
|
|
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)
|
rs753594031
|
|
NM_000053.4(ATP7B):c.3122G>C (p.Arg1041Pro)
|
|
|
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.3157dup (p.Leu1053fs)
|
rs1555286522
|
|
NM_000053.4(ATP7B):c.3163A>T (p.Lys1055Ter)
|
rs1957512345
|
|
NM_000053.4(ATP7B):c.3168del (p.Leu1057fs)
|
rs2138950870
|
|
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)
|
rs376910645
|
|
NM_000053.4(ATP7B):c.3190dup (p.Glu1064fs)
|
|
|
NM_000053.4(ATP7B):c.3200G>A (p.Ser1067Asn)
|
|
|
NM_000053.4(ATP7B):c.3201T>G (p.Ser1067Arg)
|
rs2138947313
|
|
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)
|
rs1555286478
|
|
NM_000053.4(ATP7B):c.3206A>T (p.His1069Leu)
|
|
|
NM_000053.4(ATP7B):c.3227C>T (p.Thr1076Ile)
|
|
|
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.3243+2T>C
|
rs1593671769
|
|
NM_000053.4(ATP7B):c.3244-2A>G
|
rs786204584
|
|
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)
|
rs1286080173
|
|
NM_000053.4(ATP7B):c.3258_3259del (p.Glu1086fs)
|
|
|
NM_000053.4(ATP7B):c.3265G>T (p.Gly1089Ter)
|
|
|
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)
|
rs1555285911
|
|
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro)
|
rs1555285891
|
|
NM_000053.4(ATP7B):c.3284A>G (p.Gln1095Arg)
|
|
|
NM_000053.4(ATP7B):c.3296G>A (p.Gly1099Asp)
|
|
|
NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs)
|
rs1566468816
|
|
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)
|
rs786204483
|
|
NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs)
|
rs1566468784
|
|
NM_000053.4(ATP7B):c.3304A>T (p.Ile1102Phe)
|
rs2138854011
|
|
NM_000053.4(ATP7B):c.3311G>T (p.Cys1104Phe)
|
|
|
NM_000053.4(ATP7B):c.3312C>A (p.Cys1104Ter)
|
|
|
NM_000053.4(ATP7B):c.3313A>T (p.Lys1105Ter)
|
rs1957395448
|
|
NM_000053.4(ATP7B):c.3316G>C (p.Val1106Leu)
|
rs541208827
|
|
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.3412+1G>A
|
rs1957388064
|
|
NM_000053.4(ATP7B):c.3412+1G>C
|
rs1957388064
|
|
NM_000053.4(ATP7B):c.3413-20C>G
|
|
|
NM_000053.4(ATP7B):c.3437T>C (p.Val1146Ala)
|
rs2138787759
|
|
NM_000053.4(ATP7B):c.3437_3438del (p.Val1146fs)
|
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)
|
rs1555285380
|
|
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)
|
rs377297166
|
|
NM_000053.4(ATP7B):c.3458G>A (p.Trp1153Ter)
|
|
|
NM_000053.4(ATP7B):c.3463_3464del (p.Arg1155fs)
|
|
|
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)
|
rs1555285311
|
|
NM_000053.4(ATP7B):c.3523A>T (p.Lys1175Ter)
|
rs995516204
|
|
NM_000053.4(ATP7B):c.3524_3528del (p.Lys1175fs)
|
|
|
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)
|
rs1057516479
|
|
NM_000053.4(ATP7B):c.3532A>C (p.Thr1178Pro)
|
|
|
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
|
rs1387431334
|
|
NM_000053.4(ATP7B):c.3543_3551delinsTCTGC (p.Val1182fs)
|
|
|
NM_000053.4(ATP7B):c.3545dup (p.Ala1183fs)
|
|
|
NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr)
|
rs2138775370
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000053.4(ATP7B):c.3550dup (p.Ile1184fs)
|
|
|
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)
|
rs748924063
|
|
NM_000053.4(ATP7B):c.3556+1G>T
|
rs184388696
|
|
NM_000053.4(ATP7B):c.3557-1G>A
|
|
|
NM_000053.4(ATP7B):c.3557-1G>C
|
rs2138674428
|
|
NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)
|
|
|
NM_000053.4(ATP7B):c.3583_3584del (p.Ala1195fs)
|
|
|
NM_000053.4(ATP7B):c.3584C>T (p.Ala1195Val)
|
rs2138671758
|
|
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)
|
rs786204658
|
|
NM_000053.4(ATP7B):c.3627_3632del (p.Gln1210_Ser1211del)
|
rs2138667313
|
|
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.3664del (p.Asp1222fs)
|
rs886042519
|
|
NM_000053.4(ATP7B):c.3665del (p.Asp1222fs)
|
|
|
NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu)
|
rs200911496
|
|
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)
|
rs1957151127
|
|
NM_000053.4(ATP7B):c.3693delinsTCTGGTACATTAACATTA (p.Ala1231_Thr1232insLeuValHisTer)
|
rs1957151787
|
|
NM_000053.4(ATP7B):c.3700-1G>A
|
rs1555284021
|
|
NM_000053.4(ATP7B):c.3704G>A (p.Gly1235Asp)
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NM_000053.4(ATP7B):c.3707del (p.Ile1236fs)
|
|
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NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)
|
rs1555283994
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NM_000053.4(ATP7B):c.3741_3742del (p.His1247fs)
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NM_000053.4(ATP7B):c.3752del (p.Lys1251fs)
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rs2138586206
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NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter)
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NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)
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rs1555283946
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NM_000053.4(ATP7B):c.3772_3775dup (p.Gly1259fs)
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NM_000053.4(ATP7B):c.3782_3791del (p.Lys1261fs)
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NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)
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rs1555283916
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NM_000053.4(ATP7B):c.3800del (p.Asp1267fs)
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rs1057516740
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NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile)
|
rs121907990
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NM_000053.4(ATP7B):c.3809del (p.Asn1270fs)
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rs1555283900
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NM_000053.4(ATP7B):c.3815C>A (p.Ser1272Tyr)
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NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
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rs758355520
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NM_000053.4(ATP7B):c.3820G>A (p.Ala1274Thr)
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rs2138578550
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NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)
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rs1375884723
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NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)
|
rs778914828
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NM_000053.4(ATP7B):c.3836dup (p.Asp1279fs)
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NM_000053.4(ATP7B):c.3862A>G (p.Thr1288Ala)
|
rs1257330000
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NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)
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rs373748155
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NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)
|
rs1340942427
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NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly)
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rs1593645393
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NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs)
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rs1057517384
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NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
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rs749472361
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NM_000053.4(ATP7B):c.3904-1G>A
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NM_000053.4(ATP7B):c.3904-2del
|
rs1957032734
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NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe)
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NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe)
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rs1555283732
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NM_000053.4(ATP7B):c.3935_3936del (p.His1312fs)
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NM_000053.4(ATP7B):c.3938T>C (p.Leu1313Pro)
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NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs)
|
rs1057516227
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NM_000053.4(ATP7B):c.3948del (p.Thr1317fs)
|
rs1057516228
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NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly)
|
rs2138561490
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NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)
|
rs778732681
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NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs)
|
rs2138560807
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NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser)
|
rs760285767
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NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)
|
rs1566441447
|
|
NM_000053.4(ATP7B):c.4007T>C (p.Ile1336Thr)
|
|
|
NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=)
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NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)
|
rs587783317
|
|
NM_000053.4(ATP7B):c.4022-2A>C
|
rs1555282816
|
|
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val)
|
rs1305262063
|
|
NM_000053.4(ATP7B):c.4084T>G (p.Ser1362Ala)
|
|
|
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.4118T>C (p.Leu1373Pro)
|
rs780811477
|
|
NM_000053.4(ATP7B):c.4124+1G>A
|
|
|
NM_000053.4(ATP7B):c.4124+1G>T
|
|
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NM_000053.4(ATP7B):c.4124+5G>A
|
rs1321980462
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NM_000053.4(ATP7B):c.4125-1G>C
|
rs1293549383
|
|
NM_000053.4(ATP7B):c.4125-2A>G
|
rs1555282347
|
|
NM_000053.4(ATP7B):c.413T>A (p.Leu138Ter)
|
|
|
NM_000053.4(ATP7B):c.416dup (p.Ala140fs)
|
|
|
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)
|
rs2138407151
|
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NM_000053.4(ATP7B):c.4195del (p.Gln1399fs)
|
rs886041336
|
|
NM_000053.4(ATP7B):c.4198del (p.Val1400fs)
|
|
|
NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter)
|
|
|
NM_000053.4(ATP7B):c.4242del (p.Arg1415fs)
|
rs1057517191
|
|
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)
|
rs1555282191
|
|
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)
|
rs1345677703
|
|
NM_000053.4(ATP7B):c.482_483delinsA (p.Ile161fs)
|
|
|
NM_000053.4(ATP7B):c.505C>T (p.Gln169Ter)
|
rs1952020122
|
|
NM_000053.4(ATP7B):c.51dup
|
rs1954023351
|
|
NM_000053.4(ATP7B):c.52-1G>A
|
|
|
NM_000053.4(ATP7B):c.52-2A>G
|
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.525del (p.Val176fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.528del (p.Ser177fs)
|
rs2140098691
|
|
NM_000053.4(ATP7B):c.531_535del (p.Leu178fs)
|
|
|
NM_000053.4(ATP7B):c.532_535del (p.Leu178fs)
|
rs1952018459
|
|
NM_000053.4(ATP7B):c.533_534del (p.Leu178fs)
|
|
|
NM_000053.4(ATP7B):c.590_591del (p.Leu197fs)
|
|
|
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter)
|
rs1555296472
|
|
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter)
|
rs1555296414
|
|
NM_000053.4(ATP7B):c.763dup (p.His255fs)
|
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.782_783del (p.Leu261fs)
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|
|
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)
|
rs1952004098
|
|
NM_000053.4(ATP7B):c.839del (p.Gly280fs)
|
|
|
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)
|
rs1555296356
|
|
NM_000053.4(ATP7B):c.841del (p.Gln281fs)
|
|
|
NM_000053.4(ATP7B):c.86G>A (p.Trp29Ter)
|
rs577406734
|
|
NM_000053.4(ATP7B):c.881del (p.Asn294fs)
|
|
|
NM_000053.4(ATP7B):c.956del (p.Pro319fs)
|
rs753674382
|
|
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)
|
rs911589273
|
|