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.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
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.2305A>G (p.Met769Val)
|
rs193922103
|
0.00015
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
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.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)
|
rs368545738
|
0.00010
|
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)
|
rs137853283
|
0.00009
|
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.3955C>T (p.Arg1319Ter)
|
rs193922109
|
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.2906G>A (p.Arg969Gln)
|
rs121907996
|
0.00006
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
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.2123T>C (p.Leu708Pro)
|
rs121908000
|
0.00005
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)
|
rs764131178
|
0.00005
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter)
|
rs766906034
|
0.00004
|
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.2332C>T (p.Arg778Trp)
|
rs137853284
|
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.3809A>G (p.Asn1270Ser)
|
rs121907990
|
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.1708-1G>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.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.1969A>C (p.Ser657Arg)
|
rs372436901
|
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.2122-1G>C
|
rs1319653818
|
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.2145C>T (p.Tyr715=)
|
rs751202110
|
0.00001
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)
|
rs28942075
|
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.2447+1G>A
|
rs1958431105
|
0.00001
|
NM_000053.4(ATP7B):c.2448G>T (p.Arg816Ser)
|
rs1957924589
|
0.00001
|
NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu)
|
rs748113748
|
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.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.2762G>A (p.Ser921Asn)
|
rs1230241288
|
0.00001
|
NM_000053.4(ATP7B):c.2807T>A (p.Leu936Ter)
|
rs776002066
|
0.00001
|
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
NM_000053.4(ATP7B):c.2865+1G>A
|
rs587783306
|
0.00001
|
NM_000053.4(ATP7B):c.2866-2A>C
|
rs1377418826
|
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.3280T>C (p.Phe1094Leu)
|
rs1397083296
|
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.3556+1G>A
|
rs184388696
|
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.3766C>T (p.Gln1256Ter)
|
rs1957048901
|
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.3914T>C (p.Leu1305Pro)
|
rs377144951
|
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.44del (p.Ser15fs)
|
rs1192728612
|
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
|
GRCh37/hg19 13q14.3(chr13:52548050-52549324)
|
|
|
NC_000013.10:g.(?_52508892)_(52585473_?)del
|
|
|
NC_000013.10:g.(?_52511432)_(52514936_?)del
|
|
|
NC_000013.10:g.(?_52516512)_(52516700_?)del
|
|
|
NC_000013.10:g.(?_52520410)_(52524545_?)del
|
|
|
NC_000013.10:g.(?_52524279)_(52524855_?)del
|
|
|
NC_000013.10:g.(?_52531632)_(52532700_?)del
|
|
|
NC_000013.10:g.(?_52542570)_(52549314_?)del
|
|
|
NC_000013.10:g.(?_52548990)_(52552030_?)del
|
|
|
NC_000013.10:g.(?_52548990)_52552030del
|
|
|
NC_000013.11:g.(?_51934746)_(51950409_?)del
|
|
|
NC_000013.11:g.(?_51973915)_(51975188_?)del
|
|
|
NM_000053.3(ATP7B):c.[1924G>C];[3809A>G]
|
|
|
NM_000053.3(ATP7B):c.[2950C>G];[3809A>G]
|
|
|
NM_000053.3(ATP7B):c.[3443T>C;3526G>A]
|
|
|
NM_000053.4(ATP7B):c.1000dup (p.Ser334fs)
|
|
|
NM_000053.4(ATP7B):c.1017del (p.Arg339fs)
|
|
|
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.1073del (p.Cys358fs)
|
rs1951985366
|
|
NM_000053.4(ATP7B):c.1100del (p.Gly367fs)
|
rs2140073872
|
|
NM_000053.4(ATP7B):c.1107_1108dup (p.Cys370fs)
|
rs2140073366
|
|
NM_000053.4(ATP7B):c.111dup (p.Ala38fs)
|
rs1555296939
|
|
NM_000053.4(ATP7B):c.1136del (p.Gly379fs)
|
rs2140072323
|
|
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)
|
rs1176709391
|
|
NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter)
|
rs2140071850
|
|
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs)
|
rs1593787789
|
|
NM_000053.4(ATP7B):c.1172del (p.Ser391fs)
|
|
|
NM_000053.4(ATP7B):c.1174del (p.Val392fs)
|
rs2140069931
|
|
NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter)
|
rs763051801
|
|
NM_000053.4(ATP7B):c.1195_1205del (p.Ala399fs)
|
|
|
NM_000053.4(ATP7B):c.122del (p.Asn41fs)
|
rs2140114949
|
|
NM_000053.4(ATP7B):c.1242_1243del (p.Arg414fs)
|
rs2140066737
|
|
NM_000053.4(ATP7B):c.1286-2A>G
|
rs2139975409
|
|
NM_000053.4(ATP7B):c.1292_1294delinsA (p.Cys431fs)
|
|
|
NM_000053.4(ATP7B):c.130del (p.Tyr44fs)
|
|
|
NM_000053.4(ATP7B):c.1339C>T (p.Gln447Ter)
|
rs746637821
|
|
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs)
|
rs1057517444
|
|
NM_000053.4(ATP7B):c.1352del (p.Gly451fs)
|
|
|
NM_000053.4(ATP7B):c.1369C>T (p.Gln457Ter)
|
rs1951795080
|
|
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.1436del (p.Pro479fs)
|
|
|
NM_000053.4(ATP7B):c.1463dup (p.Lys489fs)
|
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
NM_000053.4(ATP7B):c.1477C>T (p.Gln493Ter)
|
|
|
NM_000053.4(ATP7B):c.1494del (p.Cys499fs)
|
|
|
NM_000053.4(ATP7B):c.14_38del (p.Glu5fs)
|
rs2140768125
|
|
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)
|
rs1057516418
|
|
NM_000053.4(ATP7B):c.1517_1518del (p.Ile506fs)
|
|
|
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.1537G>T (p.Glu513Ter)
|
rs2139960322
|
|
NM_000053.4(ATP7B):c.1543+1G>A
|
|
|
NM_000053.4(ATP7B):c.1543+1G>C
|
rs1360279134
|
|
NM_000053.4(ATP7B):c.1543+1G>T
|
rs1360279134
|
|
NM_000053.4(ATP7B):c.1544-2A>G
|
|
|
NM_000053.4(ATP7B):c.1605_1608dup (p.Ile537fs)
|
|
|
NM_000053.4(ATP7B):c.1605_1609dup (p.Ile537fs)
|
rs886043238
|
|
NM_000053.4(ATP7B):c.1612C>T (p.Gln538Ter)
|
|
|
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)
|
rs996419100
|
|
NM_000053.4(ATP7B):c.1648_1654del (p.Gly550fs)
|
rs1951680623
|
|
NM_000053.4(ATP7B):c.1649del (p.Gly550fs)
|
rs2139890297
|
|
NM_000053.4(ATP7B):c.1660_1666dup (p.Met556fs)
|
|
|
NM_000053.4(ATP7B):c.1677C>A (p.Tyr559Ter)
|
rs142187604
|
|
NM_000053.4(ATP7B):c.1705_1707+10del
|
rs2139883798
|
|
NM_000053.4(ATP7B):c.1707+2dup
|
rs781531824
|
|
NM_000053.4(ATP7B):c.1708-1G>A
|
rs137853280
|
|
NM_000053.4(ATP7B):c.1708-25_1719del
|
rs1566560096
|
|
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.1770dup (p.Gly591fs)
|
rs2139775159
|
|
NM_000053.4(ATP7B):c.1803del (p.Ser602fs)
|
|
|
NM_000053.4(ATP7B):c.1813dup (p.Leu605fs)
|
rs1951467428
|
|
NM_000053.4(ATP7B):c.1855del (p.Ile619fs)
|
|
|
NM_000053.4(ATP7B):c.1869+2T>C
|
rs2139767694
|
|
NM_000053.4(ATP7B):c.1870_1871del (p.Glu624fs)
|
rs2139669739
|
|
NM_000053.4(ATP7B):c.1883_1884del (p.His628fs)
|
|
|
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.1945C>T (p.Gln649Ter)
|
rs1958765122
|
|
NM_000053.4(ATP7B):c.1947-2A>G
|
|
|
NM_000053.4(ATP7B):c.1949G>A (p.Trp650Ter)
|
|
|
NM_000053.4(ATP7B):c.1963del (p.Leu655fs)
|
rs2139612433
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
NM_000053.4(ATP7B):c.2009_2012dup (p.Met671fs)
|
rs1555291870
|
|
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)
|
rs779904655
|
|
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs)
|
rs1555291870
|
|
NM_000053.4(ATP7B):c.202del (p.Thr68fs)
|
|
|
NM_000053.4(ATP7B):c.2035dup (p.His679fs)
|
|
|
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.2071G>C (p.Gly691Arg)
|
|
|
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.210del (p.Gln70fs)
|
|
|
NM_000053.4(ATP7B):c.2110del (p.Thr704fs)
|
|
|
NM_000053.4(ATP7B):c.2121+1G>T
|
|
|
NM_000053.4(ATP7B):c.2121+3A>G
|
rs1248002612
|
|
NM_000053.4(ATP7B):c.2121+3A>T
|
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.2133del (p.Trp712fs)
|
|
|
NM_000053.4(ATP7B):c.2135G>A (p.Trp712Ter)
|
|
|
NM_000053.4(ATP7B):c.2139C>G (p.Tyr713Ter)
|
|
|
NM_000053.4(ATP7B):c.213_214del (p.Val73fs)
|
rs1445951068
|
|
NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter)
|
rs751202110
|
|
NM_000053.4(ATP7B):c.2145del (p.Phe714_Tyr715insTer)
|
rs1593726648
|
|
NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter)
|
rs1085307057
|
|
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)
|
rs1057516380
|
|
NM_000053.4(ATP7B):c.2157del (p.Ala718_Tyr719insTer)
|
rs1958506321
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
NM_000053.4(ATP7B):c.2204T>G (p.Leu735Arg)
|
|
|
NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter)
|
rs1958499640
|
|
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)
|
rs1958499462
|
|
NM_000053.4(ATP7B):c.2228_2229insACA (p.Tyr743Ter)
|
|
|
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro)
|
rs1593726081
|
|
NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe)
|
rs1958498953
|
|
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs)
|
rs1555291195
|
|
NM_000053.4(ATP7B):c.2255_2262dup (p.Lys755fs)
|
|
|
NM_000053.4(ATP7B):c.2280_2301del (p.Val761fs)
|
|
|
NM_000053.4(ATP7B):c.2292_2312del (p.Asp765_Phe771del)
|
|
|
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.2304del (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2310dup (p.Phe771fs)
|
|
|
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.2337G>A (p.Trp779Ter)
|
rs137853282
|
|
NM_000053.4(ATP7B):c.2351C>T (p.Ala784Val)
|
rs1566532164
|
|
NM_000053.4(ATP7B):c.2356-2A>G
|
rs2139505830
|
|
NM_000053.4(ATP7B):c.2407G>A (p.Ala803Thr)
|
|
|
NM_000053.4(ATP7B):c.2410dup (p.Thr804fs)
|
|
|
NM_000053.4(ATP7B):c.2415_2416insA (p.Val806fs)
|
|
|
NM_000053.4(ATP7B):c.2424_2425insA (p.Gly809fs)
|
|
|
NM_000053.4(ATP7B):c.2426del (p.Gly809fs)
|
rs1958433515
|
|
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+1G>T
|
rs1958431105
|
|
NM_000053.4(ATP7B):c.2447+5G>A
|
rs1369012080
|
|
NM_000053.4(ATP7B):c.2452del (p.Glu818fs)
|
|
|
NM_000053.4(ATP7B):c.246_284del (p.Asn82_Gln95delinsLys)
|
|
|
NM_000053.4(ATP7B):c.2476_2510del (p.Gln826fs)
|
|
|
NM_000053.4(ATP7B):c.2478_2479delinsT (p.Gln826fs)
|
rs1555288808
|
|
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly)
|
rs1566503575
|
|
NM_000053.4(ATP7B):c.2497dup (p.Val833fs)
|
|
|
NM_000053.4(ATP7B):c.2510del (p.Gly837fs)
|
rs964976261
|
|
NM_000053.4(ATP7B):c.2510dup (p.Phe839fs)
|
rs964976261
|
|
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)
|
rs777362050
|
|
NM_000053.4(ATP7B):c.2532del (p.Val845fs)
|
rs755709270
|
|
NM_000053.4(ATP7B):c.2536del (p.Leu846fs)
|
|
|
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)
|
rs1057520235
|
|
NM_000053.4(ATP7B):c.2575+1G>A
|
rs766149114
|
|
NM_000053.4(ATP7B):c.2578G>T (p.Glu860Ter)
|
|
|
NM_000053.4(ATP7B):c.2588del (p.Pro863fs)
|
rs2139212289
|
|
NM_000053.4(ATP7B):c.2589del (p.Val864fs)
|
rs2139212032
|
|
NM_000053.4(ATP7B):c.2595dup (p.Lys866Ter)
|
|
|
NM_000053.4(ATP7B):c.2604del (p.Gly869fs)
|
rs1957904411
|
|
NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter)
|
rs191312027
|
|
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs)
|
rs2139209584
|
|
NM_000053.4(ATP7B):c.2622_2643del (p.Gly875fs)
|
rs2139208029
|
|
NM_000053.4(ATP7B):c.2637_2650del (p.His880_Gly881insTer)
|
rs2139207205
|
|
NM_000053.4(ATP7B):c.2648_2649del (p.Val883fs)
|
|
|
NM_000053.4(ATP7B):c.2659del (p.Ala887fs)
|
|
|
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)
|
rs1455758826
|
|
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter)
|
rs1957898187
|
|
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.2731-1G>A
|
rs2139193234
|
|
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.2755_2756insAA (p.Arg919fs)
|
|
|
NM_000053.4(ATP7B):c.2763T>A (p.Ser921Arg)
|
|
|
NM_000053.4(ATP7B):c.2763T>G (p.Ser921Arg)
|
|
|
NM_000053.4(ATP7B):c.2781del (p.Phe927fs)
|
rs1957877283
|
|
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del)
|
rs1228359983
|
|
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)
|
rs1566498495
|
|
NM_000053.4(ATP7B):c.2810del (p.Val937fs)
|
rs1057516643
|
|
NM_000053.4(ATP7B):c.2817G>C (p.Trp939Cys)
|
rs1057517310
|
|
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.283C>T (p.Gln95Ter)
|
rs756929892
|
|
NM_000053.4(ATP7B):c.2851C>T (p.Gln951Ter)
|
|
|
NM_000053.4(ATP7B):c.2866-2A>G
|
rs1377418826
|
|
NM_000053.4(ATP7B):c.2866-2del
|
rs1593681941
|
|
NM_000053.4(ATP7B):c.2871del (p.Asn958fs)
|
rs1957668488
|
|
NM_000053.4(ATP7B):c.2892del (p.Glu965fs)
|
rs2139062378
|
|
NM_000053.4(ATP7B):c.2896del (p.Glu965_Val966insTer)
|
|
|
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)
|
rs1038582488
|
|
NM_000053.4(ATP7B):c.2952del (p.Cys985fs)
|
rs1957660459
|
|
NM_000053.4(ATP7B):c.2953del (p.Cys985fs)
|
rs1957660093
|
|
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)
|
rs199623434
|
|
NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr)
|
rs770782111
|
|
NM_000053.4(ATP7B):c.2997dup (p.Gly1000fs)
|
rs1957654399
|
|
NM_000053.4(ATP7B):c.2998G>C (p.Gly1000Arg)
|
rs751078884
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000053.4(ATP7B):c.3010C>T (p.Gln1004Ter)
|
|
|
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.3058A>T (p.Lys1020Ter)
|
|
|
NM_000053.4(ATP7B):c.3060+2T>C
|
rs2139045834
|
|
NM_000053.4(ATP7B):c.3061-12T>A
|
rs1045194246
|
|
NM_000053.4(ATP7B):c.3061-1G>A
|
rs780955130
|
|
NM_000053.4(ATP7B):c.3061-2A>G
|
rs1957520924
|
|
NM_000053.4(ATP7B):c.3061-549_3081del
|
rs1957518966
|
|
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys)
|
rs949421614
|
|
NM_000053.4(ATP7B):c.3071_3072del (p.Val1024fs)
|
rs1957519682
|
|
NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His)
|
rs1593672840
|
|
NM_000053.4(ATP7B):c.3083_3085delinsC (p.Lys1028fs)
|
rs1331370011
|
|
NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs)
|
rs1331370011
|
|
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>A (p.Gly1030Asp)
|
rs2138958110
|
|
NM_000053.4(ATP7B):c.3101dup (p.His1034fs)
|
rs1681704644
|
|
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)
|
rs753594031
|
|
NM_000053.4(ATP7B):c.3111del (p.Arg1038fs)
|
|
|
NM_000053.4(ATP7B):c.3124dup (p.Val1042fs)
|
|
|
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)
|
rs1441316018
|
|
NM_000053.4(ATP7B):c.3140del (p.Asp1047fs)
|
rs2138953252
|
|
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)
|
rs762031690
|
|
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.3183del (p.Thr1062fs)
|
rs2138948876
|
|
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.3206A>G (p.His1069Arg)
|
rs201738147
|
|
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.3244-1G>A
|
rs2138859417
|
|
NM_000053.4(ATP7B):c.3244-2A>G
|
rs786204584
|
|
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)
|
rs1286080173
|
|
NM_000053.4(ATP7B):c.3270C>G (p.Tyr1090Ter)
|
rs2138857747
|
|
NM_000053.4(ATP7B):c.3282C>A (p.Phe1094Leu)
|
rs1957397703
|
|
NM_000053.4(ATP7B):c.3283C>T (p.Gln1095Ter)
|
|
|
NM_000053.4(ATP7B):c.3283del (p.Gln1095fs)
|
|
|
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro)
|
rs1555285891
|
|
NM_000053.4(ATP7B):c.3295_3296dup (p.Cys1100fs)
|
|
|
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)
|
rs786204483
|
|
NM_000053.4(ATP7B):c.3316_3317dup (p.Asn1108fs)
|
|
|
NM_000053.4(ATP7B):c.3334_3335del (p.Ile1112fs)
|
rs2138851041
|
|
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)
|
rs1555285830
|
|
NM_000053.4(ATP7B):c.3361_3364del (p.Ser1121fs)
|
|
|
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)
|
rs137853281
|
|
NM_000053.4(ATP7B):c.3412+1G>A
|
rs1957388064
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)
|
rs1555285380
|
|
NM_000053.4(ATP7B):c.3472_3482del (p.Gly1158fs)
|
rs1566461818
|
|
NM_000053.4(ATP7B):c.3526G>A (p.Gly1176Arg)
|
rs137853279
|
|
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.3547_3548del (p.Ala1183fs)
|
|
|
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>C
|
rs2138674428
|
|
NM_000053.4(ATP7B):c.3560_3561del (p.Val1187fs)
|
rs2138673853
|
|
NM_000053.4(ATP7B):c.3567_3568del (p.Cys1189fs)
|
|
|
NM_000053.4(ATP7B):c.356dup (p.Met119fs)
|
rs1952028475
|
|
NM_000053.4(ATP7B):c.3588dup (p.Ala1197fs)
|
rs1957160342
|
|
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)
|
rs786204658
|
|
NM_000053.4(ATP7B):c.3628_3648del (p.Gln1210_Val1216del)
|
|
|
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
|
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NM_000053.4(ATP7B):c.3664G>A (p.Asp1222Asn)
|
rs2138663905
|
|
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)
|
rs886042519
|
|
NM_000053.4(ATP7B):c.3664dup (p.Asp1222fs)
|
rs886042519
|
|
NM_000053.4(ATP7B):c.3668_3674del (p.Asn1223fs)
|
rs755012990
|
|
NM_000053.4(ATP7B):c.3691del (p.Ala1231fs)
|
rs2138661836
|
|
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)
|
rs1957151127
|
|
NM_000053.4(ATP7B):c.36del (p.Ala14fs)
|
|
|
NM_000053.4(ATP7B):c.3700del
|
rs1957054299
|
|
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)
|
rs1555283994
|
|
NM_000053.4(ATP7B):c.3727del (p.Val1243fs)
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|
|
NM_000053.4(ATP7B):c.3741C>A (p.His1247Gln)
|
rs767464491
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NM_000053.4(ATP7B):c.3741_3742dup (p.Lys1248fs)
|
rs1462451206
|
|
NM_000053.4(ATP7B):c.3766_3767dup (p.Gln1256fs)
|
rs1957048711
|
|
NM_000053.4(ATP7B):c.3772A>T (p.Lys1258Ter)
|
rs1566444909
|
|
NM_000053.4(ATP7B):c.379del (p.Glu127fs)
|
rs2140103906
|
|
NM_000053.4(ATP7B):c.3805dup (p.Val1269fs)
|
rs2138580919
|
|
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
|
rs758355520
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NM_000053.4(ATP7B):c.3835_3862dup (p.Thr1288fs)
|
rs2138574560
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|
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)
|
rs778914828
|
|
NM_000053.4(ATP7B):c.383del (p.Gly128fs)
|
rs797045083
|
|
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs)
|
rs1957043255
|
|
NM_000053.4(ATP7B):c.3845dup (p.Ala1283fs)
|
rs2138576515
|
|
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del)
|
rs1555283826
|
|
NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro)
|
rs1257330000
|
|
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)
|
rs373748155
|
|
NM_000053.4(ATP7B):c.3883_3890del (p.Ala1295fs)
|
rs2138571104
|
|
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)
|
rs1340942427
|
|
NM_000053.4(ATP7B):c.3889GTC[1] (p.Val1298del)
|
rs2138570625
|
|
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.3895del (p.Ile1300fs)
|
rs1957038706
|
|
NM_000053.4(ATP7B):c.3904-2A>G
|
rs1057517233
|
|
NM_000053.4(ATP7B):c.3904-2del
|
rs1957032734
|
|
NM_000053.4(ATP7B):c.3914_3918dup (p.Val1307fs)
|
|
|
NM_000053.4(ATP7B):c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu)
|
rs2138562773
|
|
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.3974del (p.Leu1325fs)
|
rs1957027467
|
|
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)
|
rs1566441447
|
|
NM_000053.4(ATP7B):c.4006del (p.Ile1336fs)
|
rs1555283564
|
|
NM_000053.4(ATP7B):c.4011del (p.Ile1338fs)
|
|
|
NM_000053.4(ATP7B):c.4021+1G>A
|
|
|
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)
|
rs587783317
|
|
NM_000053.4(ATP7B):c.4022G>T (p.Gly1341Val)
|
rs779494870
|
|
NM_000053.4(ATP7B):c.404C>G (p.Ser135Ter)
|
rs2140103116
|
|
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)
|
rs786204578
|
|
NM_000053.4(ATP7B):c.4060del (p.Met1354fs)
|
|
|
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)
|
rs776848753
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
NM_000053.4(ATP7B):c.4093dup (p.Ser1365fs)
|
|
|
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu)
|
rs1555282678
|
|
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)
|
rs1444841250
|
|
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter)
|
rs755584106
|
|
NM_000053.4(ATP7B):c.4124+1G>A
|
|
|
NM_000053.4(ATP7B):c.4125-1G>T
|
rs1293549383
|
|
NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter)
|
rs2138414735
|
|
NM_000053.4(ATP7B):c.4145_4148dup (p.Tyr1384fs)
|
|
|
NM_000053.4(ATP7B):c.4152T>G (p.Tyr1384Ter)
|
|
|
NM_000053.4(ATP7B):c.4152dup (p.Glu1385Ter)
|
|
|
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.4230G>A (p.Trp1410Ter)
|
|
|
NM_000053.4(ATP7B):c.4238_4245del (p.Ser1413fs)
|
|
|
NM_000053.4(ATP7B):c.4258dup (p.Asp1420fs)
|
rs1956866547
|
|
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)
|
rs1555282191
|
|
NM_000053.4(ATP7B):c.4299del (p.Thr1434fs)
|
|
|
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)
|
rs1345677703
|
|
NM_000053.4(ATP7B):c.4354_4357dup (p.Ser1453fs)
|
|
|
NM_000053.4(ATP7B):c.4355G>A (p.Trp1452Ter)
|
|
|
NM_000053.4(ATP7B):c.4356G>A (p.Trp1452Ter)
|
|
|
NM_000053.4(ATP7B):c.436_1708-958del
|
|
|
NM_000053.4(ATP7B):c.4373del (p.Gly1458fs)
|
|
|
NM_000053.4(ATP7B):c.4374_4375del (p.Arg1459fs)
|
rs2138386032
|
|
NM_000053.4(ATP7B):c.447_452delinsC (p.Glu150fs)
|
|
|
NM_000053.4(ATP7B):c.453dup (p.Met152fs)
|
|
|
NM_000053.4(ATP7B):c.462C>A (p.Cys154Ter)
|
|
|
NM_000053.4(ATP7B):c.465_466insCCTGTGCA (p.Ser156fs)
|
rs2140100738
|
|
NM_000053.4(ATP7B):c.51+2T>C
|
|
|
NM_000053.4(ATP7B):c.51+2T>G
|
|
|
NM_000053.4(ATP7B):c.51dup
|
rs1954023351
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.525dup (p.Val176fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.528del (p.Ser177fs)
|
rs2140098691
|
|
NM_000053.4(ATP7B):c.52dup (p.Ile18fs)
|
rs2140117236
|
|
NM_000053.4(ATP7B):c.560_561del (p.Tyr187fs)
|
rs2140096946
|
|
NM_000053.4(ATP7B):c.560_561insCT (p.Gln188fs)
|
rs2140096995
|
|
NM_000053.4(ATP7B):c.561_563del (p.Tyr187_Gln188delinsTer)
|
rs2140096745
|
|
NM_000053.4(ATP7B):c.570T>A (p.Tyr190Ter)
|
|
|
NM_000053.4(ATP7B):c.676_677del (p.Arg226fs)
|
|
|
NM_000053.4(ATP7B):c.678del (p.Leu227fs)
|
|
|
NM_000053.4(ATP7B):c.697_698del (p.Lys233fs)
|
rs1023530194
|
|
NM_000053.4(ATP7B):c.702dup (p.Pro235fs)
|
|
|
NM_000053.4(ATP7B):c.721C>T (p.Gln241Ter)
|
rs2140091906
|
|
NM_000053.4(ATP7B):c.768_771dup (p.Thr258fs)
|
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)
|
rs1566598496
|
|
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)
|
rs1952004098
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)
|
rs1555296356
|
|
NM_000053.4(ATP7B):c.841del (p.Gln281fs)
|
|
|
NM_000053.4(ATP7B):c.845del (p.Leu282fs)
|
rs193922111
|
|
NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter)
|
rs1183423966
|
|
NM_000053.4(ATP7B):c.870_874del (p.Ser291fs)
|
|
|
NM_000053.4(ATP7B):c.903T>G (p.Tyr301Ter)
|
|
|
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)
|
rs398123137
|
|
NM_000053.4(ATP7B):c.918_931del (p.Ser307fs)
|
rs1951995448
|
|
NM_000053.4(ATP7B):c.92dup (p.Ala32fs)
|
rs1952043099
|
|
NM_000053.4(ATP7B):c.951_982dup (p.Pro328fs)
|
rs2140080841
|
|
NM_000053.4(ATP7B):c.956del (p.Pro319fs)
|
rs753674382
|
|
NM_000053.4(ATP7B):c.969dup (p.Lys324Ter)
|
|
|
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)
|
rs911589273
|
|
NM_000053.4(ATP7B):c.987_988dup (p.Gly330fs)
|
|
|
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)
|
rs761084829
|
|
NM_000053.4(ATP7B):c.995_998dup (p.Ser334fs)
|
rs1951990899
|
|