NM_006907.4(PYCR1):c.903A>G (p.Ser301=)
|
rs61747618
|
0.98394
|
NM_152281.3(GORAB):c.21A>C (p.Gly7=)
|
rs7531125
|
0.93522
|
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)
|
rs601314
|
0.89787
|
NM_000501.4(ELN):c.1315+17C>T
|
rs2856728
|
0.79828
|
NM_006907.4(PYCR1):c.138+37C>T
|
rs34419046
|
0.79384
|
NM_002860.4(ALDH18A1):c.88+126A>C
|
rs9787589
|
0.76474
|
NM_006329.4(FBLN5):c.945T>C (p.Ile315=)
|
rs2430347
|
0.76291
|
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=)
|
rs7135542
|
0.71178
|
NM_012463.4(ATP6V0A2):c.*1693C>G
|
rs10846553
|
0.70431
|
NM_012463.4(ATP6V0A2):c.294+103T>C
|
rs7301641
|
0.66467
|
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=)
|
rs1139789
|
0.66312
|
NM_002860.4(ALDH18A1):c.304-34A>G
|
rs2275273
|
0.66239
|
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=)
|
rs1399961
|
0.66054
|
NM_012463.4(ATP6V0A2):c.649-114T>G
|
rs10744159
|
0.66049
|
NM_012463.4(ATP6V0A2):c.432+14C>T
|
rs11837144
|
0.65907
|
NM_016938.5(EFEMP2):c.-58G>A
|
rs2303384
|
0.61477
|
NM_000501.4(ELN):c.1414+24C>T
|
rs28763986
|
0.60222
|
NM_016938.5(EFEMP2):c.490+23G>C
|
rs630394
|
0.59356
|
NM_012463.4(ATP6V0A2):c.*1128T>C
|
rs10744162
|
0.53964
|
NM_152281.3(GORAB):c.883G>A (p.Glu295Lys)
|
rs913257
|
0.52780
|
NM_012463.4(ATP6V0A2):c.*3425G>A
|
rs2333834
|
0.52752
|
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile)
|
rs2303729
|
0.50929
|
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=)
|
rs7367
|
0.50292
|
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala)
|
rs1131620
|
0.47295
|
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala)
|
rs1051303
|
0.47266
|
NM_002860.4(ALDH18A1):c.*155G>A
|
rs1053905
|
0.42481
|
NM_002860.4(ALDH18A1):c.1606-48T>G
|
rs2296692
|
0.42481
|
NM_002860.4(ALDH18A1):c.2207-46G>A
|
rs7099284
|
0.42467
|
NM_030777.4(SLC2A10):c.*2176T>C
|
rs1059217
|
0.40292
|
NM_030777.4(SLC2A10):c.*2285T>G
|
rs1136540
|
0.40283
|
NM_016938.5(EFEMP2):c.276C>T (p.His92=)
|
rs633800
|
0.39212
|
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met)
|
rs10880
|
0.39072
|
NM_002860.4(ALDH18A1):c.2206+15G>A
|
rs10882640
|
0.39029
|
NM_030777.4(SLC2A10):c.*2365T>A
|
rs1136544
|
0.38922
|
NM_030777.4(SLC2A10):c.*1293T>C
|
rs707507
|
0.38336
|
NM_030777.4(SLC2A10):c.1547+18T>G
|
rs2425906
|
0.37194
|
NM_012463.4(ATP6V0A2):c.-14C>T
|
rs1139320
|
0.36505
|
NM_018993.4(RIN2):c.1818C>T (p.His606=)
|
rs2076584
|
0.35224
|
NM_152281.3(GORAB):c.*1064T>A
|
rs6427262
|
0.31948
|
NM_000501.4(ELN):c.*501_*502insA
|
rs34208922
|
0.30369
|
NM_002860.4(ALDH18A1):c.*699C>T
|
rs4037
|
0.28027
|
NM_002860.4(ALDH18A1):c.2110+24A>T
|
rs2296691
|
0.27977
|
NM_002860.4(ALDH18A1):c.*412T>C
|
rs8758
|
0.27959
|
NM_006329.4(FBLN5):c.-414C>T
|
rs7149187
|
0.26340
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
NM_001042545.2(LTBP4):c.*20G>A
|
rs1051481
|
0.17303
|
NM_152281.3(GORAB):c.*47T>G
|
rs7552922
|
0.15016
|
NM_000501.4(ELN):c.*1194A>G
|
rs10233395
|
0.12697
|
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr)
|
rs2235491
|
0.12316
|
NM_018993.4(RIN2):c.2201-47G>A
|
rs6136905
|
0.10785
|
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)
|
rs2275272
|
0.10214
|
NM_012463.4(ATP6V0A2):c.*3553G>A
|
rs73420351
|
0.09739
|
NM_006907.4(PYCR1):c.576T>C (p.Gly192=)
|
rs872029
|
0.07170
|
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg)
|
rs41283344
|
0.06229
|
NM_152281.3(GORAB):c.*1065A>T
|
rs12063774
|
0.05681
|
NM_152281.3(GORAB):c.*884C>A
|
rs76753490
|
0.05650
|
NM_152281.3(GORAB):c.*883G>A
|
rs76509176
|
0.05649
|
NM_003573.2(LTBP4):c.2144-11C>A
|
rs41470347
|
0.05552
|
NM_012463.4(ATP6V0A2):c.*3603G>A
|
rs73420352
|
0.05364
|
NM_012463.4(ATP6V0A2):c.*574C>T
|
rs112521789
|
0.05337
|
NM_001042545.2(LTBP4):c.1300T>A (p.Ser434Thr)
|
rs34545902
|
0.04499
|
NM_012463.4(ATP6V0A2):c.*3227C>G
|
rs111540619
|
0.04290
|
NM_002860.4(ALDH18A1):c.-79A>G
|
rs117502632
|
0.03469
|
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)
|
rs11541780
|
0.03433
|
NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly)
|
rs33937741
|
0.02986
|
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)
|
rs1804934
|
0.02975
|
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala)
|
rs6018008
|
0.02748
|
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val)
|
rs17883456
|
0.02527
|
NM_001042545.2(LTBP4):c.1834C>G (p.Pro612Ala)
|
rs34299942
|
0.02447
|
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg)
|
rs79134187
|
0.02323
|
NM_012463.4(ATP6V0A2):c.*1600G>A
|
rs58028686
|
0.02320
|
NM_000501.4(ELN):c.2086+5G>C
|
rs111866046
|
0.02303
|
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)
|
rs41291566
|
0.02201
|
NM_012463.4(ATP6V0A2):c.*2877T>A
|
rs77765053
|
0.02183
|
NM_012463.4(ATP6V0A2):c.*2357C>T
|
rs117222175
|
0.02177
|
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val)
|
rs7348121
|
0.02113
|
NM_030777.4(SLC2A10):c.*56A>G
|
rs112821000
|
0.02108
|
NM_016938.5(EFEMP2):c.-113C>T
|
rs188624478
|
0.02060
|
NM_006329.4(FBLN5):c.*623A>T
|
rs77357345
|
0.02046
|
NM_012463.4(ATP6V0A2):c.*3235A>G
|
rs7310965
|
0.02017
|
NM_152281.3(GORAB):c.62-3T>C
|
rs73029138
|
0.01889
|
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly)
|
rs79849424
|
0.01835
|
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His)
|
rs74922060
|
0.01800
|
NM_006329.4(FBLN5):c.*514A>G
|
rs17804735
|
0.01698
|
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=)
|
rs145515678
|
0.01635
|
NM_012463.4(ATP6V0A2):c.*1205C>G
|
rs6488903
|
0.01582
|
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)
|
rs3765571
|
0.01418
|
NM_030777.4(SLC2A10):c.*143G>A
|
rs35691491
|
0.01384
|
NM_006329.4(FBLN5):c.989+13G>A
|
rs74071605
|
0.01368
|
NM_030777.4(SLC2A10):c.*280C>T
|
rs6018009
|
0.01365
|
NM_030777.4(SLC2A10):c.*334A>G
|
rs6018010
|
0.01363
|
NM_006329.4(FBLN5):c.863-13C>T
|
rs74071606
|
0.01336
|
NM_012463.4(ATP6V0A2):c.1039-14T>C
|
rs115569365
|
0.01308
|
NM_030777.4(SLC2A10):c.-27C>T
|
rs149481442
|
0.01295
|
NM_002860.4(ALDH18A1):c.*611G>A
|
rs41291562
|
0.01242
|
NM_018993.4(RIN2):c.85G>A (p.Gly29Arg)
|
rs78648341
|
0.01238
|
NM_006329.4(FBLN5):c.*326G>A
|
rs79375113
|
0.01197
|
NM_006329.4(FBLN5):c.*329T>C
|
rs115237925
|
0.01197
|
NM_012463.4(ATP6V0A2):c.*2646A>G
|
rs77292614
|
0.01186
|
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser)
|
rs75279884
|
0.01166
|
NM_012463.4(ATP6V0A2):c.1606-12G>A
|
rs112415338
|
0.01148
|
NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=)
|
rs41354044
|
0.01103
|
NM_012463.4(ATP6V0A2):c.*3654A>G
|
rs77670478
|
0.01086
|
NM_012463.4(ATP6V0A2):c.*1731C>T
|
rs114514797
|
0.01081
|
NM_012463.4(ATP6V0A2):c.*2329G>A
|
rs113118376
|
0.01080
|
NM_152281.3(GORAB):c.657C>T (p.Tyr219=)
|
rs76365864
|
0.00986
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
NM_006907.4(PYCR1):c.*272G>A
|
rs3744807
|
0.00977
|
NM_001042545.2(LTBP4):c.2175C>T (p.Cys725=)
|
rs141810975
|
0.00961
|
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=)
|
rs73420336
|
0.00931
|
NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=)
|
rs140927310
|
0.00894
|
NM_016938.5(EFEMP2):c.*403C>G
|
rs77540033
|
0.00883
|
NM_030777.4(SLC2A10):c.*1100T>G
|
rs6094450
|
0.00880
|
NM_001042545.2(LTBP4):c.2812+6C>T
|
rs190107102
|
0.00874
|
NM_030777.4(SLC2A10):c.1288+10G>A
|
rs76315093
|
0.00869
|
NM_030777.4(SLC2A10):c.*50T>C
|
rs36103903
|
0.00858
|
NM_006907.4(PYCR1):c.894C>T (p.Thr298=)
|
rs35589179
|
0.00828
|
NM_000501.4(ELN):c.*383T>G
|
rs184490734
|
0.00783
|
NM_012463.4(ATP6V0A2):c.*1645G>A
|
rs74994957
|
0.00766
|
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn)
|
rs34093919
|
0.00763
|
NM_000501.3(ELN):c.-38C>T
|
rs41410045
|
0.00756
|
NM_152281.3(GORAB):c.*534T>C
|
rs41272499
|
0.00754
|
NM_012463.4(ATP6V0A2):c.*1064G>A
|
rs7980215
|
0.00751
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
NM_012463.4(ATP6V0A2):c.*1837T>C
|
rs115183932
|
0.00749
|
NM_030777.4(SLC2A10):c.1548-18G>A
|
rs113496485
|
0.00749
|
NM_012463.4(ATP6V0A2):c.*3357G>C
|
rs7297473
|
0.00748
|
NM_030777.4(SLC2A10):c.*478G>A
|
rs113058599
|
0.00747
|
NM_030777.4(SLC2A10):c.*32T>C
|
rs78864327
|
0.00746
|
NM_006907.4(PYCR1):c.*68C>T
|
rs113083225
|
0.00744
|
NM_030777.4(SLC2A10):c.*513T>C
|
rs111352987
|
0.00743
|
NM_012463.4(ATP6V0A2):c.*2710G>A
|
rs145999411
|
0.00742
|
NM_030777.4(SLC2A10):c.*641G>A
|
rs113629687
|
0.00741
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln)
|
rs7969410
|
0.00727
|
NM_000501.4(ELN):c.*548G>A
|
rs117454480
|
0.00696
|
NM_006907.4(PYCR1):c.540+11C>T
|
rs149159844
|
0.00674
|
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=)
|
rs73420342
|
0.00672
|
NM_012463.4(ATP6V0A2):c.117+14G>A
|
rs144930749
|
0.00652
|
NM_030777.4(SLC2A10):c.*809C>T
|
rs114681513
|
0.00646
|
NM_012463.4(ATP6V0A2):c.*3000G>A
|
rs183891010
|
0.00622
|
NM_002860.4(ALDH18A1):c.*140C>T
|
rs76824727
|
0.00570
|
NM_030777.4(SLC2A10):c.*958C>T
|
rs189464814
|
0.00562
|
NM_002860.4(ALDH18A1):c.*56T>A
|
rs114393346
|
0.00549
|
NM_006329.4(FBLN5):c.*423T>C
|
rs17731705
|
0.00543
|
NM_001042545.2(LTBP4):c.1441A>G (p.Met481Val)
|
rs116005784
|
0.00542
|
NM_001042545.2(LTBP4):c.891C>T (p.Gly297=)
|
rs374427407
|
0.00535
|
NM_152281.3(GORAB):c.618C>T (p.Leu206=)
|
rs35872826
|
0.00535
|
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=)
|
rs114974138
|
0.00514
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg)
|
rs34945509
|
0.00505
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
NM_002860.4(ALDH18A1):c.2207-3C>T
|
rs149309642
|
0.00472
|
NM_003573.2(LTBP4):c.2389+9A>G
|
rs73544980
|
0.00471
|
NM_006329.4(FBLN5):c.502+15G>C
|
rs190933127
|
0.00456
|
NM_000501.4(ELN):c.*172G>A
|
rs56120764
|
0.00427
|
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=)
|
rs34990188
|
0.00411
|
NM_016938.5(EFEMP2):c.161-10C>T
|
rs2234461
|
0.00387
|
NM_000052.7(ATP7A):c.4226+11T>C
|
rs200009243
|
0.00383
|
NM_000501.4(ELN):c.*1195C>T
|
rs115872030
|
0.00381
|
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)
|
rs61742278
|
0.00380
|
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=)
|
rs2234457
|
0.00375
|
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=)
|
rs139155480
|
0.00363
|
NM_003573.2(LTBP4):c.79C>T (p.Leu27=)
|
rs370696272
|
0.00357
|
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn)
|
rs144655617
|
0.00356
|
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser)
|
rs2234462
|
0.00344
|
NM_016938.5(EFEMP2):c.368-18G>A
|
rs80047413
|
0.00337
|
NM_000501.4(ELN):c.921A>G (p.Ala307=)
|
rs6979788
|
0.00327
|
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=)
|
rs78731297
|
0.00326
|
NM_006329.4(FBLN5):c.620-8T>C
|
rs147699855
|
0.00324
|
NM_001042545.2(LTBP4):c.2451G>A (p.Glu817=)
|
rs191216887
|
0.00282
|
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)
|
rs148765730
|
0.00280
|
NM_016938.5(EFEMP2):c.368-11G>A
|
rs181514768
|
0.00272
|
NM_006329.4(FBLN5):c.*647C>T
|
rs10197
|
0.00262
|
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=)
|
rs116344406
|
0.00241
|
NM_006329.4(FBLN5):c.-411A>G
|
rs143296045
|
0.00240
|
NM_016938.5(EFEMP2):c.368-4G>A
|
rs111550973
|
0.00223
|
NM_006329.4(FBLN5):c.-152C>T
|
rs139387007
|
0.00199
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
NM_006329.4(FBLN5):c.*648G>A
|
rs182435130
|
0.00140
|
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg)
|
rs200667255
|
0.00135
|
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)
|
rs117709404
|
0.00134
|
NM_006329.4(FBLN5):c.714T>A (p.Leu238=)
|
rs141152607
|
0.00134
|
NM_002860.4(ALDH18A1):c.*227A>G
|
rs943341
|
0.00129
|
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=)
|
rs146234365
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)
|
rs146887876
|
0.00117
|
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=)
|
rs142431229
|
0.00113
|
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)
|
rs144816455
|
0.00112
|
NM_000501.4(ELN):c.1821G>C (p.Gly607=)
|
rs144835575
|
0.00109
|
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=)
|
rs61740381
|
0.00098
|
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=)
|
rs144780990
|
0.00092
|
NM_001042545.2(LTBP4):c.2681-10C>G
|
rs200914063
|
0.00084
|
NM_152281.3(GORAB):c.*1217T>C
|
rs77280970
|
0.00081
|
NM_000501.4(ELN):c.259T>C (p.Phe87Leu)
|
rs140411170
|
0.00080
|
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=)
|
rs80355657
|
0.00078
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_000501.4(ELN):c.1232T>G (p.Val411Gly)
|
rs200180992
|
0.00073
|
NM_000501.4(ELN):c.212C>T (p.Ala71Val)
|
rs41350445
|
0.00073
|
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_012463.4(ATP6V0A2):c.*1122A>G
|
rs3827881
|
0.00064
|
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_016938.5(EFEMP2):c.714C>T (p.Gly238=)
|
rs2234467
|
0.00060
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
NM_000501.4(ELN):c.1507G>A (p.Val503Met)
|
rs41523046
|
0.00057
|
NM_001042545.2(LTBP4):c.2238C>T (p.Pro746=)
|
rs201588216
|
0.00055
|
NM_000501.4(ELN):c.470-10C>G
|
rs200663056
|
0.00053
|
NM_000052.7(ATP7A):c.3801+6T>C
|
rs181665434
|
0.00048
|
NM_000501.4(ELN):c.278C>T (p.Pro93Leu)
|
rs181019457
|
0.00048
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)
|
rs145519139
|
0.00040
|
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)
|
rs201788154
|
0.00039
|
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)
|
rs371939448
|
0.00037
|
NM_000052.7(ATP7A):c.610+19A>G
|
rs367724628
|
0.00036
|
NM_000052.7(ATP7A):c.864T>C (p.Cys288=)
|
rs142521666
|
0.00036
|
NM_000501.4(ELN):c.366A>G (p.Gly122=)
|
rs61734587
|
0.00034
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
0.00034
|
NM_000501.4(ELN):c.931G>A (p.Ala311Thr)
|
rs41376344
|
0.00034
|
NM_152281.3(GORAB):c.*1298T>C
|
rs185248405
|
0.00033
|
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)
|
rs142316834
|
0.00031
|
NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser)
|
rs531533787
|
0.00031
|
NM_000501.4(ELN):c.*562A>C
|
rs539096901
|
0.00029
|
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_006329.4(FBLN5):c.862+12C>T
|
rs202088447
|
0.00025
|
NM_000052.7(ATP7A):c.177A>G (p.Pro59=)
|
rs142463642
|
0.00022
|
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)
|
rs200178859
|
0.00021
|
NM_152281.3(GORAB):c.663-12A>G
|
rs201410218
|
0.00021
|
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)
|
rs372318616
|
0.00020
|
NM_000052.7(ATP7A):c.2607A>G (p.Val869=)
|
rs61053012
|
0.00020
|
NM_000501.4(ELN):c.1994-7T>G
|
rs375277198
|
0.00020
|
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln)
|
rs142907552
|
0.00019
|
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)
|
rs144288844
|
0.00019
|
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His)
|
rs141868759
|
0.00019
|
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_000501.4(ELN):c.1467C>T (p.Val489=)
|
rs200512332
|
0.00017
|
NM_000501.4(ELN):c.1338C>T (p.Ala446=)
|
rs146576615
|
0.00016
|
NM_000501.4(ELN):c.249C>T (p.Pro83=)
|
rs565001805
|
0.00016
|
NM_000052.7(ATP7A):c.1737A>G (p.Val579=)
|
rs189353691
|
0.00015
|
NM_000501.4(ELN):c.232+3G>A
|
rs377172364
|
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_000501.4(ELN):c.1317C>T (p.Pro439=)
|
rs201861098
|
0.00014
|
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=)
|
rs148660796
|
0.00014
|
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=)
|
rs141535376
|
0.00013
|
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met)
|
rs149523862
|
0.00012
|
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_000501.4(ELN):c.1271G>A (p.Gly424Glu)
|
rs782725817
|
0.00010
|
NM_000501.4(ELN):c.460G>A (p.Val154Met)
|
rs145669576
|
0.00010
|
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.1030A>G (p.Arg344Gly)
|
rs782196306
|
0.00008
|
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr)
|
rs781817601
|
0.00008
|
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)
|
rs147848649
|
0.00008
|
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=)
|
rs560780691
|
0.00008
|
NM_016938.5(EFEMP2):c.848-16C>T
|
rs773386551
|
0.00008
|
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met)
|
rs781844108
|
0.00007
|
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp)
|
rs782415705
|
0.00007
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile)
|
rs781873881
|
0.00007
|
NM_000052.7(ATP7A):c.2892T>C (p.Phe964=)
|
rs781832055
|
0.00006
|
NM_000052.7(ATP7A):c.493A>G (p.Met165Val)
|
rs782097214
|
0.00006
|
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)
|
rs375116795
|
0.00006
|
NM_000501.4(ELN):c.886G>A (p.Ala296Thr)
|
rs782335529
|
0.00006
|
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=)
|
rs372232940
|
0.00005
|
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=)
|
rs781928652
|
0.00005
|
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=)
|
rs782154912
|
0.00005
|
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu)
|
rs782143115
|
0.00005
|
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=)
|
rs144293453
|
0.00005
|
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr)
|
rs188836609
|
0.00005
|
NM_001042545.2(LTBP4):c.1953G>A (p.Pro651=)
|
rs371903094
|
0.00005
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp)
|
rs188175511
|
0.00004
|
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=)
|
rs369055537
|
0.00004
|
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=)
|
rs782587854
|
0.00004
|
NM_000052.7(ATP7A):c.765A>G (p.Leu255=)
|
rs781957871
|
0.00004
|
NM_000501.4(ELN):c.1674C>T (p.Gly558=)
|
rs182784538
|
0.00004
|
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)
|
rs369804770
|
0.00004
|
NM_000501.4(ELN):c.2132-5T>A
|
rs539160518
|
0.00004
|
NM_006329.4(FBLN5):c.-57G>A
|
rs546827390
|
0.00004
|
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp)
|
rs782603364
|
0.00003
|
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)
|
rs72554638
|
0.00003
|
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg)
|
rs782577253
|
0.00003
|
NM_000052.7(ATP7A):c.2406+15G>C
|
rs782547388
|
0.00003
|
NM_000052.7(ATP7A):c.2406+18G>A
|
rs1243579823
|
0.00003
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
NM_000052.7(ATP7A):c.849T>C (p.Ile283=)
|
rs782773745
|
0.00003
|
NM_000501.4(ELN):c.470-5G>A
|
rs368292481
|
0.00003
|
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro)
|
rs374530062
|
0.00002
|
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile)
|
rs782058395
|
0.00002
|
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
|
rs1308442670
|
0.00002
|
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu)
|
rs782602356
|
0.00002
|
NM_000052.7(ATP7A):c.2907C>G (p.Thr969=)
|
rs781835541
|
0.00002
|
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val)
|
rs374154862
|
0.00002
|
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser)
|
rs782250966
|
0.00002
|
NM_000052.7(ATP7A):c.4006-10C>T
|
rs782741784
|
0.00002
|
NM_000052.7(ATP7A):c.705A>C (p.Pro235=)
|
rs199608277
|
0.00002
|
NM_006329.4(FBLN5):c.-458G>A
|
rs369441736
|
0.00002
|
NM_000052.7(ATP7A):c.1209A>G (p.Pro403=)
|
rs782744809
|
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.142G>A (p.Ala48Thr)
|
rs1557231562
|
0.00001
|
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)
|
rs781874593
|
0.00001
|
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu)
|
rs879254156
|
0.00001
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
NM_000052.7(ATP7A):c.2947A>G (p.Thr983Ala)
|
rs1023683992
|
0.00001
|
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly)
|
rs782154314
|
0.00001
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln)
|
rs782260602
|
0.00001
|
NM_000052.7(ATP7A):c.4206T>C (p.Leu1402=)
|
rs782505602
|
0.00001
|
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
|
rs368091927
|
0.00001
|
NM_000501.4(ELN):c.134-10C>G
|
rs782069123
|
0.00001
|
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)
|
rs150248865
|
0.00001
|
NM_000501.4(ELN):c.767C>T (p.Ala256Val)
|
rs782285456
|
0.00001
|
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser)
|
rs747288805
|
0.00001
|
NM_006907.4(PYCR1):c.-62G>A
|
rs573221309
|
0.00001
|
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)
|
|
|
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=)
|
|
|
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)
|
|
|
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe)
|
|
|
NM_000052.7(ATP7A):c.1707+16del
|
|
|
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile)
|
rs372116692
|
|
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu)
|
|
|
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
|
|
|
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=)
|
|
|
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg)
|
rs781900997
|
|
NM_000052.7(ATP7A):c.2172+8_2172+12dup
|
rs782170618
|
|
NM_000052.7(ATP7A):c.2173-15A>G
|
|
|
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)
|
|
|
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)
|
|
|
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)
|
|
|
NM_000052.7(ATP7A):c.2406+20C>T
|
|
|
NM_000052.7(ATP7A):c.2407-10del
|
|
|
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr)
|
rs782768766
|
|
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=)
|
|
|
NM_000052.7(ATP7A):c.2782-17_2782-15del
|
|
|
NM_000052.7(ATP7A):c.3112-5dup
|
rs1569550186
|
|
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
|
|
|
NM_000052.7(ATP7A):c.3294+12dup
|
rs1223290704
|
|
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
|
|
|
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)
|
|
|
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val)
|
|
|
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu)
|
rs782688596
|
|
NM_000052.7(ATP7A):c.379G>A (p.Val127Met)
|
|
|
NM_000052.7(ATP7A):c.3801+13G>T
|
|
|
NM_000052.7(ATP7A):c.3802-12T>C
|
|
|
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=)
|
|
|
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=)
|
rs372489000
|
|
NM_000052.7(ATP7A):c.4005+12G>A
|
|
|
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=)
|
|
|
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)
|
rs4826245
|
|
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=)
|
|
|
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro)
|
|
|
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile)
|
|
|
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=)
|
rs149079962
|
|
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=)
|
|
|
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=)
|
|
|
NM_000052.7(ATP7A):c.561C>T (p.Ser187=)
|
|
|
NM_000052.7(ATP7A):c.657T>G (p.Leu219=)
|
|
|
NM_000052.7(ATP7A):c.761G>A (p.Arg254His)
|
|
|
NM_000052.7(ATP7A):c.783A>G (p.Lys261=)
|
|
|
NM_000052.7(ATP7A):c.885T>C (p.Ile295=)
|
|
|
NM_000501.4(ELN):c.*636G>A
|
rs533779578
|
|
NM_000501.4(ELN):c.*659G>C
|
rs8326
|
|
NM_000501.4(ELN):c.1096+12TG[16]
|
rs10579871
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
NM_000501.4(ELN):c.1269C>T (p.Val423=)
|
rs61734583
|
|
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)
|
rs17855988
|
|
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)
|
rs781963804
|
|
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)
|
rs137953195
|
|
NM_001042545.2(LTBP4):c.*86C>T
|
rs10424186
|
|
NM_001042545.2(LTBP4):c.2565C>T (p.Asp855=)
|
rs2077407
|
|
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs)
|
rs59030801
|
|
NM_002860.4(ALDH18A1):c.1606-18del
|
rs532582192
|
|
NM_002860.4(ALDH18A1):c.1924-11del
|
|
|
NM_006329.4(FBLN5):c.422C>T (p.Thr141Ile)
|
rs1890163941
|
|
NM_012463.4(ATP6V0A2):c.*115C>T
|
rs367543009
|
|
NM_012463.4(ATP6V0A2):c.*2353G>T
|
rs74386589
|
|
NM_012463.4(ATP6V0A2):c.*3167G>A
|
rs112529654
|
|
NM_012463.4(ATP6V0A2):c.732-23T>C
|
rs2271660
|
|
NM_016938.5(EFEMP2):c.1171-17del
|
|
|
NM_016938.5(EFEMP2):c.367+10del
|
|
|
NM_016938.5(EFEMP2):c.975-32C>T
|
rs594689
|
|
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=)
|
rs201323237
|
|
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser)
|
rs6094438
|
|