NM_000052.7(ATP7A):c.-22+117T>C
|
rs2184780
|
0.99913
|
NM_000052.7(ATP7A):c.2407-184G>T
|
rs5959964
|
0.26375
|
NM_000052.7(ATP7A):c.2782-29C>A
|
rs113968994
|
0.25602
|
NM_000052.7(ATP7A):c.2781+141G>A
|
rs7053543
|
0.25168
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
NM_000052.7(ATP7A):c.4123+288A>G
|
rs112181954
|
0.24240
|
NM_000052.7(ATP7A):c.120+328G>C
|
rs113665704
|
0.05655
|
NM_000052.7(ATP7A):c.3658+136_3658+137del
|
rs10591781
|
0.05437
|
NM_000052.7(ATP7A):c.*267A>G
|
rs151132335
|
0.02304
|
NM_000052.7(ATP7A):c.4226+48A>G
|
rs17218310
|
0.01515
|
NM_000052.7(ATP7A):c.*208A>G
|
rs142059968
|
0.01260
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
NM_000052.7(ATP7A):c.120+194A>G
|
rs139196328
|
0.00889
|
NM_000052.7(ATP7A):c.1544-155G>T
|
rs111544036
|
0.00886
|
NM_000052.7(ATP7A):c.1708-264C>A
|
rs113529215
|
0.00865
|
NM_000052.7(ATP7A):c.2498+113A>G
|
rs181240427
|
0.00831
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
NM_000052.7(ATP7A):c.2406+164A>T
|
rs192353701
|
0.00702
|
NM_000052.7(ATP7A):c.3294+605C>G
|
rs147306552
|
0.00647
|
NM_000052.7(ATP7A):c.3802-302A>G
|
rs188655939
|
0.00635
|
NM_000052.7(ATP7A):c.3294+907C>T
|
rs139339244
|
0.00521
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
NM_000052.7(ATP7A):c.2627-202C>T
|
rs150538110
|
0.00476
|
NM_000052.7(ATP7A):c.2498+121A>G
|
rs185690492
|
0.00475
|
NM_000052.7(ATP7A):c.3111+266G>A
|
rs143063698
|
0.00399
|
NM_000052.7(ATP7A):c.4226+11T>C
|
rs200009243
|
0.00383
|
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)
|
rs61742278
|
0.00380
|
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn)
|
rs144655617
|
0.00356
|
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)
|
rs148765730
|
0.00280
|
NM_000052.7(ATP7A):c.120+43G>A
|
rs200365512
|
0.00247
|
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)
|
rs146887876
|
0.00117
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
NM_000052.7(ATP7A):c.2173-24A>G
|
rs373061724
|
0.00086
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala)
|
rs138154934
|
0.00078
|
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr)
|
rs138039591
|
0.00069
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)
|
rs150526992
|
0.00060
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
NM_000052.7(ATP7A):c.3801+6T>C
|
rs181665434
|
0.00048
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)
|
rs201788154
|
0.00039
|
NM_000052.7(ATP7A):c.610+19A>G
|
rs367724628
|
0.00036
|
NM_000052.7(ATP7A):c.864T>C (p.Cys288=)
|
rs142521666
|
0.00036
|
NM_000052.7(ATP7A):c.2172+117C>G
|
rs782456456
|
0.00030
|
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=)
|
rs140838569
|
0.00028
|
NM_000052.7(ATP7A):c.282G>A (p.Ala94=)
|
rs370700841
|
0.00027
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
NM_000052.7(ATP7A):c.177A>G (p.Pro59=)
|
rs142463642
|
0.00022
|
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)
|
rs372318616
|
0.00020
|
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)
|
rs201225704
|
0.00018
|
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)
|
rs372489000
|
0.00018
|
NM_000052.7(ATP7A):c.1737A>G (p.Val579=)
|
rs189353691
|
0.00015
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
NM_000052.7(ATP7A):c.3153C>T (p.His1051=)
|
rs142998552
|
0.00014
|
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)
|
rs374162669
|
0.00012
|
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)
|
rs539177302
|
0.00012
|
NM_000052.7(ATP7A):c.3210C>T (p.His1070=)
|
rs185917115
|
0.00012
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)
|
rs201999500
|
0.00009
|
NM_000052.7(ATP7A):c.2407-14G>T
|
rs782184126
|
0.00009
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00009
|
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)
|
rs146392305
|
0.00009
|
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)
|
rs782196306
|
0.00008
|
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)
|
rs147848649
|
0.00008
|
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val)
|
rs782351352
|
0.00008
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=)
|
rs149841982
|
0.00006
|
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe)
|
rs372898963
|
0.00006
|
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln)
|
rs782729433
|
0.00006
|
NM_000052.7(ATP7A):c.-22+13T>C
|
rs563965187
|
0.00005
|
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=)
|
rs781950759
|
0.00005
|
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)
|
rs782076879
|
0.00005
|
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)
|
rs207478437
|
0.00005
|
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=)
|
rs781928652
|
0.00005
|
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn)
|
rs1057520234
|
0.00005
|
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)
|
rs782682493
|
0.00005
|
NM_000052.7(ATP7A):c.673A>G (p.Met225Val)
|
rs782619990
|
0.00005
|
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)
|
rs369419911
|
0.00004
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=)
|
rs782587854
|
0.00004
|
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=)
|
rs1297787618
|
0.00003
|
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)
|
rs139902461
|
0.00003
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)
|
rs782237314
|
0.00003
|
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu)
|
rs1557231845
|
0.00002
|
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu)
|
rs782651571
|
0.00002
|
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro)
|
rs374530062
|
0.00002
|
NM_000052.7(ATP7A):c.1543+9C>G
|
rs367977602
|
0.00002
|
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)
|
rs781959472
|
0.00002
|
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)
|
rs782664014
|
0.00002
|
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)
|
rs1427317043
|
0.00002
|
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val)
|
rs374154862
|
0.00002
|
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg)
|
rs781912153
|
0.00002
|
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr)
|
rs781912401
|
0.00002
|
NM_000052.7(ATP7A):c.4227-1G>A
|
rs782283173
|
0.00002
|
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr)
|
rs368982547
|
0.00001
|
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser)
|
rs1557231866
|
0.00001
|
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val)
|
rs1349223430
|
0.00001
|
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
|
rs373634671
|
0.00001
|
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)
|
rs377651753
|
0.00001
|
NM_000052.7(ATP7A):c.1376C>T (p.Ser459Leu)
|
rs1557232786
|
0.00001
|
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala)
|
rs781964005
|
0.00001
|
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr)
|
rs1557231562
|
0.00001
|
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)
|
rs781874593
|
0.00001
|
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln)
|
rs782491733
|
0.00001
|
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn)
|
rs371777895
|
0.00001
|
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu)
|
rs781872960
|
0.00001
|
NM_000052.7(ATP7A):c.1867G>A (p.Glu623Lys)
|
rs1382569560
|
0.00001
|
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu)
|
rs879254156
|
0.00001
|
NM_000052.7(ATP7A):c.2047C>T (p.His683Tyr)
|
rs782729792
|
0.00001
|
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys)
|
rs944415019
|
0.00001
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)
|
rs2077837721
|
0.00001
|
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp)
|
rs1443260520
|
0.00001
|
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser)
|
rs1557236698
|
0.00001
|
NM_000052.7(ATP7A):c.2939G>A (p.Arg980Gln)
|
rs1057522925
|
0.00001
|
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln)
|
rs781995242
|
0.00001
|
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile)
|
rs181435872
|
0.00001
|
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=)
|
rs1057518370
|
0.00001
|
NM_000052.7(ATP7A):c.3659-5A>G
|
rs1557238245
|
0.00001
|
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile)
|
rs782499160
|
0.00001
|
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu)
|
rs782628250
|
0.00001
|
NM_000052.7(ATP7A):c.4006-11T>A
|
rs1325784914
|
0.00001
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser)
|
rs189818149
|
0.00001
|
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
|
rs368091927
|
0.00001
|
NM_000052.7(ATP7A):c.513C>T (p.Val171=)
|
rs782643553
|
0.00001
|
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys)
|
rs374855698
|
0.00001
|
NM_000052.7(ATP7A):c.*310del
|
rs200579535
|
|
NM_000052.7(ATP7A):c.*40C>G
|
rs148698322
|
|
NM_000052.7(ATP7A):c.-22+13T>G
|
rs563965187
|
|
NM_000052.7(ATP7A):c.1142T>G (p.Ile381Arg)
|
rs1057522517
|
|
NM_000052.7(ATP7A):c.121-2del
|
rs1287511385
|
|
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)
|
rs781846400
|
|
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu)
|
rs1603381269
|
|
NM_000052.7(ATP7A):c.1486G>T (p.Gly496Cys)
|
rs1249256780
|
|
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr)
|
rs2149087885
|
|
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp)
|
rs1030215501
|
|
NM_000052.7(ATP7A):c.1543+240dup
|
rs782274914
|
|
NM_000052.7(ATP7A):c.1543+86dup
|
rs112508476
|
|
NM_000052.7(ATP7A):c.1544-273AC[19]
|
rs781808445
|
|
NM_000052.7(ATP7A):c.1544-273AC[20]
|
rs781808445
|
|
NM_000052.7(ATP7A):c.1544-273AC[21]
|
rs781808445
|
|
NM_000052.7(ATP7A):c.1544-273AC[23]
|
rs781808445
|
|
NM_000052.7(ATP7A):c.1544-273AC[24]
|
rs781808445
|
|
NM_000052.7(ATP7A):c.1544-273AC[25]
|
rs781808445
|
|
NM_000052.7(ATP7A):c.1570A>G (p.Met524Val)
|
rs2149090232
|
|
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp)
|
rs1057524455
|
|
NM_000052.7(ATP7A):c.1707+6_1707+9del
|
rs879253938
|
|
NM_000052.7(ATP7A):c.1758C>T (p.Leu586=)
|
rs1557234088
|
|
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=)
|
rs368747913
|
|
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=)
|
rs368747913
|
|
NM_000052.7(ATP7A):c.1795C>G (p.Leu599Val)
|
rs2149093539
|
|
NM_000052.7(ATP7A):c.1870-3T>A
|
rs1557234394
|
|
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser)
|
rs876661241
|
|
NM_000052.7(ATP7A):c.1903G>A (p.Asp635Asn)
|
rs2149094962
|
|
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp)
|
rs1057523112
|
|
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg)
|
rs781900997
|
|
NM_000052.7(ATP7A):c.1947-65G>A
|
rs142953341
|
|
NM_000052.7(ATP7A):c.1958C>G (p.Ser653Cys)
|
|
|
NM_000052.7(ATP7A):c.2019_2021dup (p.Val673_Met674insIle)
|
rs1569549885
|
|
NM_000052.7(ATP7A):c.209G>C (p.Gly70Ala)
|
|
|
NM_000052.7(ATP7A):c.2131G>C (p.Val711Leu)
|
rs782268170
|
|
NM_000052.7(ATP7A):c.2161G>A (p.Val721Ile)
|
rs1557234543
|
|
NM_000052.7(ATP7A):c.2173-269del
|
rs782360257
|
|
NM_000052.7(ATP7A):c.2173-269dup
|
rs782360257
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg)
|
rs2077837209
|
|
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
|
|
|
NM_000052.7(ATP7A):c.2269G>A (p.Ala757Thr)
|
|
|
NM_000052.7(ATP7A):c.2329C>A (p.Pro777Thr)
|
rs879254312
|
|
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr)
|
rs1057523512
|
|
NM_000052.7(ATP7A):c.2380G>C (p.Gly794Arg)
|
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
NM_000052.7(ATP7A):c.2485A>T (p.Asn829Tyr)
|
rs1163453293
|
|
NM_000052.7(ATP7A):c.2540T>C (p.Ile847Thr)
|
rs2149097365
|
|
NM_000052.7(ATP7A):c.2551G>A (p.Val851Ile)
|
rs2149097373
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|
NM_000052.7(ATP7A):c.2626+4del
|
|
|
NM_000052.7(ATP7A):c.2669T>C (p.Ile890Thr)
|
rs2149099646
|
|
NM_000052.7(ATP7A):c.2711C>T (p.Ala904Val)
|
|
|
NM_000052.7(ATP7A):c.2773A>G (p.Thr925Ala)
|
rs782777820
|
|
NM_000052.7(ATP7A):c.2782-253del
|
rs200190598
|
|
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg)
|
rs539177302
|
|
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser)
|
rs1569550056
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
NM_000052.7(ATP7A):c.3028_3038delinsGTGGCTGTGGA (p.Thr1010_Met1013delinsValAlaValGlu)
|
rs2149104906
|
|
NM_000052.7(ATP7A):c.3044G>C (p.Gly1015Ala)
|
rs2149104921
|
|
NM_000052.7(ATP7A):c.3077T>C (p.Ile1026Thr)
|
rs2149104943
|
|
NM_000052.7(ATP7A):c.3112-66=
|
rs5902762
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|
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile)
|
rs1064796648
|
|
NM_000052.7(ATP7A):c.3294+2T>C
|
|
|
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile)
|
rs879254006
|
|
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile)
|
rs876661235
|
|
NM_000052.7(ATP7A):c.3659-257G>C
|
rs138431566
|
|
NM_000052.7(ATP7A):c.3659-42=
|
rs5913631
|
|
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys)
|
rs372066609
|
|
NM_000052.7(ATP7A):c.3802-21_3802-11dup
|
rs782271446
|
|
NM_000052.7(ATP7A):c.3812del (p.Thr1271fs)
|
rs1557238569
|
|
NM_000052.7(ATP7A):c.3816G>C (p.Lys1272Asn)
|
rs2149111723
|
|
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)
|
rs151340632
|
|
NM_000052.7(ATP7A):c.392C>G (p.Pro131Arg)
|
|
|
NM_000052.7(ATP7A):c.3935C>A (p.Ala1312Asp)
|
rs2149111820
|
|
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)
|
rs4826245
|
|
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile)
|
rs782483019
|
|
NM_000052.7(ATP7A):c.4123+241dup
|
rs781972709
|
|
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.435A>T (p.Glu145Asp)
|
|
|
NM_000052.7(ATP7A):c.4391T>A (p.Ile1464Lys)
|
rs2149114089
|
|
NM_000052.7(ATP7A):c.4425C>A (p.Asn1475Lys)
|
rs1557239142
|
|
NM_000052.7(ATP7A):c.553T>A (p.Cys185Ser)
|
|
|
NM_000052.7(ATP7A):c.610+108G>A
|
rs148390231
|
|
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr)
|
rs1557231750
|
|
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn)
|
|
|
NM_000052.7(ATP7A):c.839C>T (p.Thr280Ile)
|
|
|
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys)
|
|
|
NM_000052.7(ATP7A):c.905T>G (p.Leu302Arg)
|
rs2149083172
|
|
NM_000052.7(ATP7A):c.972C>T (p.Ser324=)
|
rs1002928416
|
|