NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_000053.4(ATP7B):c.2866-13G>C
|
rs7325983
|
0.10642
|
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)
|
rs1801246
|
0.04852
|
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=)
|
rs1801247
|
0.04023
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_000053.4(ATP7B):c.1707+9T>C
|
rs114449708
|
0.01274
|
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)
|
rs116091486
|
0.01159
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00732
|
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)
|
rs11840224
|
0.00305
|
NM_000053.4(ATP7B):c.3060+16G>T
|
rs76163470
|
0.00196
|
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.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.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=)
|
rs193922105
|
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.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.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter)
|
rs766906034
|
0.00004
|
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)
|
rs60431989
|
0.00004
|
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=)
|
rs193922106
|
0.00004
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)
|
rs137853284
|
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.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.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.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.1782del (p.Thr593_Tyr594insTer)
|
rs780327716
|
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.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.2293G>A (p.Asp765Asn)
|
rs28942075
|
0.00001
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
0.00001
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu)
|
rs768671894
|
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.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
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.3060+5G>T
|
rs1353373400
|
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.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.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.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)
|
rs1033235740
|
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
|
NC_000013.10:g.(52549305_52585422)_(52585631_?)del
|
|
|
NM_000053.4(ATP7B):c.-74C>A
|
rs193922101
|
|
NM_000053.4(ATP7B):c.1073del (p.Cys358fs)
|
rs1951985366
|
|
NM_000053.4(ATP7B):c.111dup (p.Ala38fs)
|
rs1555296939
|
|
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)
|
rs1176709391
|
|
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)
|
rs778675259
|
|
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)
|
rs1057516418
|
|
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.1543+1G>T
|
rs1360279134
|
|
NM_000053.4(ATP7B):c.1648_1654del (p.Gly550fs)
|
rs1951680623
|
|
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)
|
rs1057516893
|
|
NM_000053.4(ATP7B):c.1739del (p.His580fs)
|
rs1555293357
|
|
NM_000053.4(ATP7B):c.174dup (p.Thr59fs)
|
rs1057516561
|
|
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs)
|
rs1057516940
|
|
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)
|
rs779904655
|
|
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)
|
rs121908001
|
|
NM_000053.4(ATP7B):c.2121+3A>G
|
rs1248002612
|
|
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)
|
rs1394999756
|
|
NM_000053.4(ATP7B):c.213_214del (p.Val73fs)
|
rs1445951068
|
|
NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter)
|
rs1085307057
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter)
|
rs1958499640
|
|
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)
|
rs1958499462
|
|
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)
|
rs1555291147
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
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.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+1G>T
|
rs1958431105
|
|
NM_000053.4(ATP7B):c.2532del (p.Val845fs)
|
rs755709270
|
|
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs)
|
rs2139209584
|
|
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del)
|
rs2139201690
|
|
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.2795C>A (p.Ser932Ter)
|
rs1566498495
|
|
NM_000053.4(ATP7B):c.2810del (p.Val937fs)
|
rs1057516643
|
|
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.2987T>C (p.Met996Thr)
|
rs770782111
|
|
NM_000053.4(ATP7B):c.2997dup (p.Gly1000fs)
|
rs1957654399
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)
|
rs1555287300
|
|
NM_000053.4(ATP7B):c.3061-12T>A
|
rs1045194246
|
|
NM_000053.4(ATP7B):c.3061-1G>A
|
rs780955130
|
|
NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs)
|
rs1331370011
|
|
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)
|
rs753594031
|
|
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)
|
rs762031690
|
|
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)
|
rs753236073
|
|
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)
|
rs1286080173
|
|
NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs)
|
rs1566468816
|
|
NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs)
|
rs1566468784
|
|
NM_000053.4(ATP7B):c.3311G>T (p.Cys1104Phe)
|
|
|
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.3472_3482del (p.Gly1158fs)
|
rs1566461818
|
|
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
|
rs1387431334
|
|
NM_000053.4(ATP7B):c.3556+1G>T
|
rs184388696
|
|
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)
|
rs786204658
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
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.3741_3742dup (p.Lys1248fs)
|
rs1462451206
|
|
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
|
rs758355520
|
|
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)
|
rs1375884723
|
|
NM_000053.4(ATP7B):c.3836dup (p.Asp1279fs)
|
|
|
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs)
|
rs1957043255
|
|
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.3942_3943del (p.Lys1315fs)
|
rs1057516227
|
|
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.4051C>T (p.Gln1351Ter)
|
rs786204578
|
|
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.4112T>C (p.Leu1371Pro)
|
rs1444841250
|
|
NM_000053.4(ATP7B):c.4125-1G>C
|
rs1293549383
|
|
NM_000053.4(ATP7B):c.436_1708-958del
|
|
|
NM_000053.4(ATP7B):c.447_452delinsC (p.Glu150fs)
|
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.525del (p.Val176fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.525dup (p.Val176fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)
|
rs1566598496
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
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NM_000053.4(ATP7B):c.845del (p.Leu282fs)
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rs193922111
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NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)
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rs398123137
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NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)
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rs911589273
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NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)
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rs761084829
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