ClinVar Miner

List of variants reported as benign for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2996
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000828.4(GRIA3):c.-2G= rs58044961 1.00000
NM_001278116.2(L1CAM):c.-109+1811dup rs77883713 0.99995
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile) rs10902758 0.99926
NM_001001344.3(ATP2B3):c.790+17G>C rs2980013 0.99748
NM_001001344.3(ATP2B3):c.2839+33A>G rs2980018 0.99672
NM_020661.4(AICDA):c.-84A>G rs1345004 0.99525
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_001555.5(IGSF1):c.93A>G (p.Ser31=) rs4495600 0.99369
NM_001368397.1(FRMPD4):c.1197+12C>G rs4469660 0.99321
NM_012310.5(KIF4A):c.27C>T (p.Pro9=) rs1199470 0.99232
NM_153252.5(BRWD3):c.3863A>G (p.Lys1288Arg) rs3122407 0.99173
NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=) rs3020949 0.99114
NM_001318510.2(ACSL4):c.1697+31G>A rs839408 0.98980
NM_033641.4(COL4A6):c.2808T>C (p.Arg936=) rs4623610 0.98777
NM_001555.5(IGSF1):c.114A>G (p.Pro38=) rs5930458 0.98470
NM_000843.4(GRM6):c.1308T>C (p.Thr436=) rs4701014 0.98353
NM_002025.4(AFF2):c.3404+7A>G rs5980615 0.95464
NM_001001344.3(ATP2B3):c.2326+11C>T rs3020957 0.95109
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu) rs4972450 0.92386
NM_016032.4(ZDHHC9):c.487+15A>G rs2275605 0.92100
NM_005765.3(ATP6AP2):c.534+45G>C rs3112299 0.91713
NM_001555.5(IGSF1):c.948G>A (p.Val316=) rs5932877 0.91610
NM_022101.4(STEEP1):c.-2T>C rs5910616 0.89242
NM_001001344.3(ATP2B3):c.2839+14G>T rs3020959 0.88308
NM_001252024.2(TRPM1):c.4-36G>A rs4779817 0.85121
NM_001252024.2(TRPM1):c.68T>C (p.Met23Thr) rs4779816 0.85041
NM_002351.5(SH2D1A):c.*863T>A rs7876065 0.84013
NM_004187.5(KDM5C):c.2243+11G>T rs1977364 0.81756
NM_001252024.2(TRPM1):c.161G>A (p.Ser54Asn) rs2241493 0.79957
NM_001252024.2(TRPM1):c.2406T>C (p.Asn802=) rs2288242 0.78132
NM_001001344.3(ATP2B3):c.664+41G>A rs762733 0.76378
NM_001015877.2(PHF6):c.139-47G>A rs5978001 0.75584
NM_000843.4(GRM6):c.1131C>T (p.Asp377=) rs2071246 0.74455
NM_033641.4(COL4A6):c.1360T>C (p.Ser454Pro) rs1042065 0.74364
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_001011658.4(TRAPPC2):c.*1739C>G rs7716 0.70553
NM_000033.4(ABCD1):c.*8G>C rs2229539 0.70012
NM_000033.3(ABCD1):c.*1035C>T rs6643782 0.69879
NM_000553.6(WRN):c.513C>T (p.Cys171=) rs1800389 0.66802
NM_080632.3(UPF3B):c.264-34G>A rs2428212 0.66050
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_001011658.4(TRAPPC2):c.*830G>C rs1964206 0.65101
NM_033641.4(COL4A6):c.2956+39G>A rs2295914 0.64644
NM_022101.4(STEEP1):c.375C>T (p.Gly125=) rs5910611 0.64193
NM_001167.4(XIAP):c.*5892T>G rs6648556 0.64022
NM_153252.5(BRWD3):c.*6862T>C rs2063579 0.63956
NM_033641.4(COL4A6):c.949-31C>G rs1266719 0.62433
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala) rs6979 0.60624
NM_024528.4(NKAP):c.923+6C>T rs194302 0.60390
NM_001167.4(XIAP):c.*4610C>T rs9856 0.60235
NM_001167.4(XIAP):c.*5241A>T rs5958343 0.59444
NM_000033.4(ABCD1):c.1992-32C>T rs4898368 0.59030
NM_007325.5(GRIA3):c.751-16T>C rs550640 0.58620
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_000283.4(PDE6B):c.*12A>G rs28675771 0.58217
NM_006517.5(SLC16A2):c.1399+43T>G rs5937843 0.57946
NM_000843.4(GRM6):c.1500+23A>G rs2256966 0.57932
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) rs502434 0.57798
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_001257291.2(SLC9A7):c.1827C>T (p.Tyr609=) rs3208940 0.57691
NM_000843.4(GRM6):c.176A>C (p.Gln59Pro) rs2645329 0.57334
NM_000843.4(GRM6):c.1392A>G (p.Gly464=) rs11746675 0.57251
NM_001257291.2(SLC9A7):c.144G>C (p.Ala48=) rs1056846 0.56828
NM_002025.4(AFF2):c.3623+57G>A rs12688573 0.56066
NM_198506.5(LRIT3):c.524G>A (p.Ser175Asn) rs4698797 0.55919
NM_144499.3(GNAT1):c.*1427A>G rs34877766 0.55827
NM_000132.4(F8):c.*1672G>A rs1050705 0.55703
NM_198506.5(LRIT3):c.1006A>T (p.Met336Leu) rs764205 0.55477
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_001252024.2(TRPM1):c.*571G>A rs11070718 0.53803
NM_145200.5(CABP4):c.541+7C>G rs1638564 0.53792
NM_001159699.2(FHL1):c.737-8C>T rs2076705 0.53498
NM_153252.5(BRWD3):c.1087-23G>C rs4240018 0.51825
NM_000444.6(PHEX):c.-90A>G rs178710 0.51407
NM_001415.4(EIF2S3):c.99C>T (p.His33=) rs36018672 0.51303
NM_004595.5(SMS):c.170+30C>T rs3747276 0.51062
NM_000489.6(ATRX):c.2785G>C (p.Glu929Gln) rs3088074 0.50884
NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser) rs35143646 0.50841
NM_000054.7(AVPR2):c.927A>G (p.Leu309=) rs5201 0.50717
NM_000843.4(GRM6):c.1353T>C (p.Asn451=) rs2067011 0.50613
NM_001378477.3(NYX):c.*509G>C rs3021319 0.50557
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339 0.49941
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_001555.5(IGSF1):c.1347A>G (p.Glu449=) rs1128617 0.48301
NM_000047.3(ARSL):c.1692C>T (p.Asn564=) rs11222 0.47884
NM_001252024.2(TRPM1):c.1305G>A (p.Thr435=) rs1035705 0.47013
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_005391.5(PDK3):c.107-7948A>C rs7060702 0.46363
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_000033.4(ABCD1):c.*877C>T rs11803 0.46252
NM_006950.3(SYN1):c.775-8085A>G rs4898 0.46249
NM_001399.5(EDA):c.706+11_706+12del rs10579679 0.45223
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_000033.4(ABCD1):c.*894G>A rs1055847 0.44006
NM_002351.4(SH2D1A):c.-346C>T rs12164382 0.43694
NM_001001344.3(ATP2B3):c.1824-58G>A rs2239682 0.43153
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_001001344.3(ATP2B3):c.2592G>C (p.Val864=) rs2269415 0.41962
NM_144499.3(GNAT1):c.*516T>G rs11919418 0.41929
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360 0.40138
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.39769
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_000539.3(RHO):c.-26A>G rs7984 0.38071
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_000539.3(RHO):c.*912A>G rs2855558 0.37600
NM_001555.5(IGSF1):c.2556T>C (p.Tyr852=) rs4830219 0.36154
NM_001081550.2(THOC2):c.3058-9C>T rs2072914 0.35686
NM_031407.7(HUWE1):c.5716+37T>G rs266786 0.34800
NM_000444.6(PHEX):c.1769-10C>T rs3752433 0.33899
NM_002025.4(AFF2):c.1041+56456A>G rs241084 0.33601
NM_145200.5(CABP4):c.*876G>A rs11601325 0.33447
NM_144499.3(GNAT1):c.*618C>T rs13064381 0.31869
NM_001399.5(EDA):c.742-11C>T rs2296765 0.30200
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=) rs3747282 0.29345
NM_001555.5(IGSF1):c.3579C>T (p.Val1193=) rs6529473 0.29000
NM_001011658.4(TRAPPC2):c.*1052T>C rs5979952 0.28849
NM_006579.3(EBP):c.15G>T (p.Ala5=) rs3048 0.28803
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) rs2269345 0.28771
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196 0.28751
NM_001493.3(GDI1):c.219T>C (p.Asn73=) rs4834 0.28474
NM_001378477.3(NYX):c.-57+60A>G rs3013121 0.28288
NM_001378477.3(NYX):c.-57+95T>C rs3013122 0.28228
NM_001039591.3(USP9X):c.3558+16T>C rs5918130 0.27842
NM_000390.4(CHM):c.315-1543T>C rs12835678 0.27812
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.27747
NM_001081550.2(THOC2):c.2317-47A>G rs3764750 0.26774
NM_001039891.2(ZNF674):c.*2120A>C rs5952893 0.26563
NM_153252.5(BRWD3):c.*5481A>C rs12690214 0.26102
NM_033641.4(COL4A6):c.3078C>T (p.Gly1026=) rs5973851 0.26004
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) rs2230488 0.24795
NM_001004334.4(GPR179):c.909= (p.Val303=) rs9894059 0.24635
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_001252024.2(TRPM1):c.2373T>C (p.Tyr791=) rs12913672 0.24521
NM_033380.3(COL4A5):c.1033-72C>T rs2272944 0.23733
NM_005120.3(MED12):c.4415+29T>C rs10521349 0.23097
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_001042750.2(STAG2):c.1417-39A>C rs2297651 0.22776
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_001330574.2(ZNF711):c.-286+5C>T rs41311563 0.22093
NM_005120.3(MED12):c.205-38C>T rs12850852 0.22082
NM_001330574.2(ZNF711):c.*632A>G rs6653049 0.22070
NM_024921.4(POF1B):c.*1626G>A rs16980188 0.22046
NM_024921.4(POF1B):c.*1431A>C rs16980189 0.22033
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_001330574.2(ZNF711):c.*153A>G rs2343388 0.21897
NM_001167.4(XIAP):c.*5506T>A rs201236246 0.21442
NM_000328.3(RPGR):c.2241+11T>C rs4084271 0.20121
NM_000033.4(ABCD1):c.*608G>A rs73640819 0.19859
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_004727.3(SLC24A1):c.109A>T (p.Thr37Ser) rs3743171 0.19289
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_005334.3(HCFC1):c.1085-22C>G rs17421 0.19150
NM_001167.4(XIAP):c.*12A>G rs28382740 0.18976
NM_001167.4(XIAP):c.*6251C>T rs28382755 0.18915
NM_001167.4(XIAP):c.*2845C>T rs17330644 0.18875
NM_001167.4(XIAP):c.*2674A>C rs17330637 0.18783
NM_001167.4(XIAP):c.*4188T>C rs28382752 0.18781
NM_001167.4(XIAP):c.*4884C>T rs8371 0.18781
NM_001167.4(XIAP):c.*3383T>C rs17330651 0.18705
NM_001167.4(XIAP):c.*1676T>C rs17334746 0.18591
NM_006013.5(RPL10):c.-24+3G>A rs915942 0.18464
NM_000074.3(CD40LG):c.148T>C (p.Leu50=) rs1126535 0.18453
NM_033380.3(COL4A5):c.609+21T>C rs6622333 0.18370
NM_033380.3(COL4A5):c.1587+136A>G rs4308887 0.18242
NM_000843.4(GRM6):c.2196G>A (p.Thr732=) rs2071247 0.18181
NM_001167.4(XIAP):c.*3642T>G rs28382747 0.17981
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_001167.4(XIAP):c.*4015A>G rs28382749 0.17684
NM_001167.4(XIAP):c.*4078C>A rs28382751 0.17448
NM_000390.4(CHM):c.315-1541C>A rs10217834 0.17278
NM_000390.4(CHM):c.351A>G (p.Ala117=) rs10217950 0.17011
NM_002351.5(SH2D1A):c.*1321A>G rs6649207 0.16862
NM_001167.4(XIAP):c.*803G>T rs28382742 0.16745
NM_002578.5(PAK3):c.431-26A>G rs16986385 0.16664
NM_001252024.2(TRPM1):c.*251A>G rs17227989 0.16454
NM_001167.4(XIAP):c.*1393G>A rs28382744 0.16288
NM_001004334.4(GPR179):c.3448A>G (p.Lys1150Glu) rs55727040 0.16088
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_153252.5(BRWD3):c.*3850G>C rs45627037 0.15831
NM_153252.5(BRWD3):c.*5993G>C rs7065450 0.15763
NM_022836.4(DCLRE1B):c.234T>C (p.His78=) rs3761936 0.15394
NM_005120.3(MED12):c.3354+27G>C rs5030617 0.15058
NM_002025.4(AFF2):c.1488G>A (p.Ser496=) rs12011040 0.14855
NM_145200.5(CABP4):c.*1697A>G rs2514262 0.14831
NM_001363.5(DKC1):c.*6G>A rs1800533 0.14655
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) rs6150 0.14452
NM_033380.3(COL4A5):c.3513A>G (p.Gln1171=) rs2273051 0.14310
NM_001079872.2(CUL4B):c.1174-20G>A rs5957408 0.14035
NM_000132.4(F8):c.1010-27G>A rs7058826 0.13707
NM_001082486.2(ACD):c.1298+20C>A rs67114979 0.13128
NM_000444.6(PHEX):c.-33C>T rs5951494 0.13118
NM_015107.3(PHF8):c.2650-35C>G rs7886772 0.13065
NM_000539.3(RHO):c.*232A>G rs2410 0.12892
NM_005120.3(MED12):c.2422+30C>T rs2075790 0.12776
NM_145200.5(CABP4):c.*119T>G rs1790736 0.12627
NM_145200.5(CABP4):c.*1857T>C rs11227798 0.12407
NM_001252024.2(TRPM1):c.2541C>T (p.Asn847=) rs12911350 0.12346
NM_001082486.2(ACD):c.413+3A>G rs8058187 0.12302
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_000539.3(RHO):c.*925T>C rs60645924 0.11065
NM_033380.3(COL4A5):c.2349G>A (p.Pro783=) rs3747408 0.11046
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=) rs7884085 0.10905
NM_004463.3(FGD1):c.659+27T>C rs2239809 0.10870
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945 0.10302
NM_012216.4(MID2):c.180A>C (p.Ser60=) rs2236083 0.10213
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140 0.10149
NM_033380.3(COL4A5):c.438+36G>T rs73526282 0.09880
NM_033380.3(COL4A5):c.2768-11A>G rs1006269 0.09324
NM_004595.5(SMS):c.866-32T>C rs2071136 0.09321
NM_000444.6(PHEX):c.1966-11T>C rs12014792 0.09259
NM_000132.4(F8):c.3864A>C (p.Ser1288=) rs1800292 0.09246
NM_012310.5(KIF4A):c.3073-4C>T rs10482161 0.09171
NM_000033.4(ABCD1):c.-59C>T rs4148030 0.09150
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val) rs1340989 0.08733
NM_024921.4(POF1B):c.*1849G>A rs73513629 0.08686
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08321
NM_000539.3(RHO):c.-51G>A rs2269736 0.08270
NM_012310.5(KIF4A):c.3372+11G>T rs5980934 0.08227
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07869
NM_004463.3(FGD1):c.*36C>T rs2230265 0.07863
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_000539.3(RHO):c.696+4C>T rs56340615 0.07633
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_000054.7(AVPR2):c.993C>T (p.Ser331=) rs5202 0.07296
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_000047.3(ARSL):c.78A>G (p.Ala26=) rs35718384 0.07015
NM_004727.3(SLC24A1):c.*1618A>G rs62014380 0.06922
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_001167.4(XIAP):c.*80G>C rs12838858 0.06523
NM_004727.3(SLC24A1):c.*732T>G rs62014379 0.06512
NM_001555.5(IGSF1):c.2041+24G>A rs3810725 0.06489
NM_002351.5(SH2D1A):c.*212G>A rs5958475 0.06359
NM_004727.3(SLC24A1):c.937T>G (p.Leu313Val) rs35571449 0.06350
NM_001252024.2(TRPM1):c.4560T>A (p.His1520Gln) rs12898290 0.06327
NM_001252024.2(TRPM1):c.4189G>T (p.Glu1397Ter) rs3784589 0.06326
NM_145200.5(CABP4):c.*2327G>A rs11227799 0.06318
NM_000032.5(ALAS2):c.*56A>C rs6612250 0.06184
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391 0.06046
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_145200.5(CABP4):c.800-5C>T rs72934713 0.05627
NM_001004334.4(GPR179):c.7080T>G (p.Thr2360=) rs58740367 0.05624
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_001004334.4(GPR179):c.5605C>G (p.Gln1869Glu) rs4399578 0.05465
NM_001252024.2(TRPM1):c.4249G>A (p.Val1417Ile) rs3784588 0.05322
NM_012310.5(KIF4A):c.987T>C (p.Tyr329=) rs41305391 0.05231
NM_153252.5(BRWD3):c.*2831C>T rs3810676 0.05213
NM_000283.4(PDE6B):c.915G>A (p.Thr305=) rs75695239 0.05186
NM_033641.4(COL4A6):c.3402C>T (p.Ala1134=) rs2295912 0.05171
NM_033641.4(COL4A6):c.4812+8C>T rs73251797 0.05127
NM_001004334.4(GPR179):c.*362G>A rs4794777 0.05121
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_153252.5(BRWD3):c.*4223C>T rs184070793 0.05012
NM_001004334.4(GPR179):c.1478= (p.His493=) rs4550493 0.04915
NM_153252.5(BRWD3):c.*5461T>G rs41306245 0.04912
NM_001167.4(XIAP):c.*1958G>A rs41309540 0.04864
NM_005334.3(HCFC1):c.1085-12G>A rs3027893 0.04847
NM_001167.4(XIAP):c.*6422T>A rs5911725 0.04760
NM_001167.4(XIAP):c.*5069A>T rs5956584 0.04730
NM_001375834.1(WIPF1):c.957T>G (p.Pro319=) rs112447307 0.04681
NM_153252.5(BRWD3):c.*1372T>A rs41300257 0.04529
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=) rs7049247 0.04476
NM_000553.6(WRN):c.355+20A>T rs4987239 0.04393
NM_001252024.2(TRPM1):c.3752A>C (p.Asn1251Thr) rs17227996 0.04213
NM_171998.4(RAB39B):c.*1347C>T rs17052027 0.04193
NM_001110556.2(FLNA):c.374-19G>A rs2070817 0.04163
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001004334.4(GPR179):c.2650C>T (p.Arg884Trp) rs72832277 0.04068
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_033641.4(COL4A6):c.3481A>G (p.Ile1161Val) rs34466065 0.03911
NM_019597.5(HNRNPH2):c.1320C>T (p.Asn440=) rs3027574 0.03836
NM_033641.4(COL4A6):c.3373C>T (p.Pro1125Ser) rs35179844 0.03732
NM_004727.3(SLC24A1):c.*718C>A rs12148277 0.03721
NM_000328.3(RPGR):c.2149+46C>T rs41312110 0.03703
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_000252.3(MTM1):c.232-28C>T rs73620649 0.03576
NM_000283.4(PDE6B):c.*20C>A rs61760239 0.03551
NM_001082486.2(ACD):c.1371G>T (p.Pro457=) rs14920 0.03535
NM_171998.4(RAB39B):c.*1813C>A rs17052030 0.03516
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_000047.3(ARSL):c.549C>T (p.Arg183=) rs5982618 0.03335
NM_001330574.2(ZNF711):c.-449A>G rs375972814 0.03298
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_000166.6(GJB1):c.*117C>T rs41307256 0.03266
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_153252.5(BRWD3):c.3602+14T>A rs73502699 0.03187
NM_033641.4(COL4A6):c.3855G>A (p.Ser1285=) rs34132805 0.03145
NM_004727.3(SLC24A1):c.*766G>A rs140766380 0.03114
NM_033641.4(COL4A6):c.4082T>C (p.Leu1361Pro) rs35363062 0.03050
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NC_000016.10:g.67660703A>G rs72547496 0.03001
NM_005334.3(HCFC1):c.1605+20G>T rs1002679 0.02967
NM_153252.5(BRWD3):c.*3483G>A rs116559809 0.02942
NM_012310.5(KIF4A):c.969A>G (p.Thr323=) rs5936873 0.02938
NM_001252024.2(TRPM1):c.4201C>A (p.Pro1401Thr) rs61734298 0.02860
NM_000047.3(ARSL):c.157A>G (p.Ile53Val) rs61733256 0.02854
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_000283.4(PDE6B):c.*191C>A rs111449765 0.02743
NM_001111125.3(IQSEC2):c.2297+14G>A rs17002631 0.02684
NM_153252.5(BRWD3):c.*1036A>C rs41300175 0.02680
NM_000054.7(AVPR2):c.19A>T (p.Thr7Ser) rs5196 0.02678
NM_171998.4(RAB39B):c.*1580C>G rs115301020 0.02663
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=) rs74010762 0.02659
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_000283.4(PDE6B):c.123G>A (p.Pro41=) rs113459274 0.02570
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala) rs28414606 0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=) rs28510278 0.02567
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_153252.5(BRWD3):c.*3787T>C rs146779779 0.02546
NM_001252024.2(TRPM1):c.1879G>A (p.Val627Met) rs17815774 0.02393
NM_001252024.2(TRPM1):c.1572+14A>G rs17228080 0.02373
NM_000539.3(RHO):c.*313C>T rs55941599 0.02366
NM_000054.7(AVPR2):c.*257G>A rs73627263 0.02353
NM_002351.5(SH2D1A):c.*866A>G rs767771720 0.02353
NM_000330.4(RS1):c.184+35T>C rs6633109 0.02347
NM_000047.3(ARSL):c.23+687G>A rs61733257 0.02344
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274 0.02319
NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu) rs2071126 0.02308
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=) rs185512321 0.02235
NM_000166.6(GJB1):c.*163G>T rs139775308 0.02210
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228 0.02162
NM_001034853.2(RPGR):c.552G>T (p.Gln184His) rs5963403 0.02128
NM_153252.5(BRWD3):c.*6157C>T rs142555243 0.02125
NM_000166.6(GJB1):c.*34C>A rs113014279 0.02074
NM_001004334.4(GPR179):c.5930C>A (p.Pro1977His) rs62073368 0.02067
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751 0.02044
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_000553.6(WRN):c.1155G>A (p.Glu385=) rs2230010 0.01974
NM_000047.3(ARSL):c.24-26C>T rs2302079 0.01922
NM_000330.4(RS1):c.295A>G (p.Asn99Asp) rs144683916 0.01920
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446 0.01916
NM_000033.4(ABCD1):c.1393+31C>T rs73633774 0.01908
NM_153252.5(BRWD3):c.813+10G>C rs55824836 0.01875
NM_198506.5(LRIT3):c.*962A>G rs10011256 0.01835
NM_144499.3(GNAT1):c.*1397G>T rs74718377 0.01823
NM_001004334.4(GPR179):c.5385C>T (p.Gly1795=) rs72832276 0.01811
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_145200.5(CABP4):c.*2195G>A rs11822066 0.01710
NM_145200.5(CABP4):c.*1435G>A rs75914794 0.01709
NM_000054.7(AVPR2):c.440C>T (p.Ala147Val) rs5200 0.01635
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238 0.01632
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=) rs6612251 0.01631
NM_001167.4(XIAP):c.*3611C>T rs28382746 0.01629
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser) rs56218010 0.01619
NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu) rs3087414 0.01577
NM_001011658.4(TRAPPC2):c.*1599T>C rs146362855 0.01547
NM_001011658.4(TRAPPC2):c.*490C>T rs186451206 0.01542
NM_144499.3(GNAT1):c.117G>A (p.Glu39=) rs34797487 0.01515
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_001167.4(XIAP):c.*5368C>T rs138392322 0.01491
NM_001378477.3(NYX):c.207G>A (p.Leu69=) rs12013709 0.01487
NM_144499.3(GNAT1):c.*1174G>A rs114828382 0.01485
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn) rs28381079 0.01483
NM_001167.4(XIAP):c.*5756C>T rs149254603 0.01472
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273 0.01468
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_001004334.4(GPR179):c.*613G>C rs59996277 0.01442
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782 0.01437
NM_006950.3(SYN1):c.912C>T (p.Ala304=) rs62636605 0.01433
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426 0.01400
NM_000132.4(F8):c.4500G>A (p.Pro1500=) rs33921347 0.01389
NM_000047.3(ARSL):c.548G>A (p.Arg183His) rs34412194 0.01378
NM_001011658.4(TRAPPC2):c.*1963A>G rs147081718 0.01377
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) rs74667788 0.01349
NM_000132.4(F8):c.*29C>T rs5986887 0.01323
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574 0.01317
NM_001004334.4(GPR179):c.*523G>A rs143241101 0.01311
NM_000047.3(ARSL):c.495T>C (p.His165=) rs35274634 0.01303
NM_001004334.4(GPR179):c.3881G>A (p.Arg1294Gln) rs74742940 0.01287
NM_033641.4(COL4A6):c.303T>C (p.Phe101=) rs149820261 0.01271
NM_000444.6(PHEX):c.-108A>G rs149541983 0.01269
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_033380.3(COL4A5):c.276+69T>C rs149638471 0.01263
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_000390.4(CHM):c.265A>T (p.Ser89Cys) rs145707160 0.01253
NM_001110556.2(FLNA):c.4598+8G>C rs112379782 0.01252
NM_000283.4(PDE6B):c.2526C>T (p.Gly842=) rs61733857 0.01240
NM_006950.3(SYN1):c.838-8T>G rs12394306 0.01234
NM_001330574.2(ZNF711):c.798A>G (p.Thr266=) rs72549428 0.01228
NM_001004334.4(GPR179):c.3680A>G (p.Lys1227Arg) rs138451517 0.01226
NM_001004334.4(GPR179):c.1595G>A (p.Arg532His) rs59208852 0.01203
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_000539.3(RHO):c.*1601C>T rs187923166 0.01177
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_004727.3(SLC24A1):c.931G>C (p.Val311Leu) rs34363823 0.01175
NM_000283.4(PDE6B):c.2289G>A (p.Lys763=) rs61739716 0.01153
NM_001004334.4(GPR179):c.3569G>A (p.Arg1190Gln) rs80172972 0.01140
NM_001167.4(XIAP):c.*4658C>T rs28382753 0.01131
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01127
NM_000539.3(RHO):c.*488T>C rs78163008 0.01127
NM_000132.4(F8):c.1086G>A (p.Ala362=) rs1800289 0.01123
NM_001004334.4(GPR179):c.921T>A (p.Ser307Arg) rs137934209 0.01106
NM_000240.4(MAOA):c.306+16C>A rs148788403 0.01100
NM_004727.3(SLC24A1):c.*1199T>C rs114414983 0.01090
NM_000074.3(CD40LG):c.684A>G (p.Val228=) rs11575983 0.01089
NM_001110556.2(FLNA):c.869-7C>T rs143311779 0.01084
NM_000539.3(RHO):c.*33C>T rs113310993 0.01076
NM_000132.4(F8):c.1444-22T>C rs5986899 0.01075
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_000054.7(AVPR2):c.1113G>A (p.Ser371=) rs5203 0.01072
NM_001004334.4(GPR179):c.2924C>A (p.Ala975Asp) rs111520301 0.01045
NM_001004334.4(GPR179):c.2392G>A (p.Ala798Thr) rs78470373 0.01044
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=) rs35792756 0.01026
NM_000054.7(AVPR2):c.125C>T (p.Ala42Val) rs5198 0.01023
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_001375834.1(WIPF1):c.1446C>T (p.Asn482=) rs116757787 0.01011
NM_001079872.2(CUL4B):c.1324+15G>A rs143921252 0.01002
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) rs150174049 0.00992
NM_001167.4(XIAP):c.*6357G>A rs41312771 0.00988
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075 0.00986
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
NM_014271.4(IL1RAPL1):c.-39G>A rs143054072 0.00962
NM_001271696.3(ABCB7):c.945-7C>T rs5937938 0.00961
NM_001252024.2(TRPM1):c.1644C>T (p.Tyr548=) rs34647453 0.00956
NM_004727.3(SLC24A1):c.1488C>T (p.Gly496=) rs35366838 0.00946
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_000283.4(PDE6B):c.2505A>G (p.Val835=) rs61734864 0.00938
NM_001375834.1(WIPF1):c.42G>A (p.Thr14=) rs111761533 0.00937
NM_000283.4(PDE6B):c.*414C>T rs111404897 0.00925
NM_145200.5(CABP4):c.747C>T (p.Asp249=) rs34573687 0.00924
NM_002351.5(SH2D1A):c.*1100C>A rs141513491 0.00923
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys) rs115775983 0.00911
NM_001004334.4(GPR179):c.880C>T (p.Leu294=) rs141320532 0.00905
NM_000390.4(CHM):c.238C>T (p.Leu80Phe) rs55741408 0.00895
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_206997.1(GPR152):c.181G>A (p.Gly61Arg) rs79423227 0.00871
NM_001252024.2(TRPM1):c.4744G>A (p.Val1582Met) rs61734295 0.00844
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_001004334.4(GPR179):c.2988G>A (p.Glu996=) rs192591837 0.00838
NM_000283.4(PDE6B):c.873T>C (p.Ser291=) rs142597807 0.00827
NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser) rs145388022 0.00827
NM_000032.5(ALAS2):c.282A>G (p.Glu94=) rs150313977 0.00815
NM_001004334.4(GPR179):c.3979G>A (p.Asp1327Asn) rs112195635 0.00812
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174 0.00809
NM_001252024.2(TRPM1):c.1261C>A (p.Pro421Thr) rs141540242 0.00803
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_001110556.2(FLNA):c.1829-13T>C rs192905521 0.00789
NM_171998.4(RAB39B):c.*1945A>T rs145867198 0.00760
NM_171998.4(RAB39B):c.*282G>T rs147213132 0.00758
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_033641.4(COL4A6):c.3139-4G>A rs185777707 0.00750
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552 0.00745
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_145200.5(CABP4):c.*1859C>T rs7936733 0.00732
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_198506.5(LRIT3):c.*232C>G rs116151046 0.00720
NM_153252.5(BRWD3):c.*1592G>C rs180892443 0.00718
NM_153252.5(BRWD3):c.*6902G>A rs188498975 0.00718
NM_001001344.3(ATP2B3):c.3052-5C>T rs189012896 0.00714
NM_153252.5(BRWD3):c.*2323G>A rs191690327 0.00713
NM_001378477.3(NYX):c.1202C>G (p.Ala401Gly) rs34169326 0.00706
NM_001011658.4(TRAPPC2):c.*1443G>A rs148298471 0.00704
NM_001011658.4(TRAPPC2):c.*1128C>T rs181174972 0.00702
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_000330.4(RS1):c.523-10A>C rs142428831 0.00691
NM_001015877.2(PHF6):c.729+4A>G rs188961105 0.00691
NM_004727.3(SLC24A1):c.2594A>G (p.Glu865Gly) rs142249570 0.00691
NM_033641.4(COL4A6):c.323C>T (p.Pro108Leu) rs139802816 0.00690
NM_000252.3(MTM1):c.1260+17A>G rs185258809 0.00687
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_001252024.2(TRPM1):c.3980G>A (p.Arg1327His) rs13380059 0.00682
NM_171998.4(RAB39B):c.*1006A>G rs138077054 0.00682
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192 0.00679
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_001252024.2(TRPM1):c.*723T>C rs143353770 0.00654
NM_002351.4(SH2D1A):c.-318G>C rs146024883 0.00649
NM_000252.3(MTM1):c.136+17A>G rs142891103 0.00648
NM_033641.4(COL4A6):c.4070-17C>T rs141656095 0.00646
NM_000444.6(PHEX):c.*218A>C rs141594056 0.00645
NM_001004334.4(GPR179):c.645G>A (p.Pro215=) rs75688084 0.00639
NM_145200.5(CABP4):c.*963C>T rs76060170 0.00637
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=) rs7049358 0.00631
NM_004727.3(SLC24A1):c.*778C>T rs150126578 0.00629
NM_000032.5(ALAS2):c.824-15C>T rs727467 0.00627
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263 0.00624
NM_000132.4(F8):c.266-19G>A rs28370201 0.00623
NM_004586.3(RPS6KA3):c.1080G>A (p.Glu360=) rs114337467 0.00622
NM_001375834.1(WIPF1):c.339C>G (p.Ser113=) rs76308107 0.00619
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=) rs140852252 0.00612
NM_001004334.4(GPR179):c.508G>C (p.Gly170Arg) rs77937007 0.00605
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462 0.00604
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_001004334.4(GPR179):c.4141T>C (p.Cys1381Arg) rs4398144 0.00592
NM_000132.4(F8):c.670+31C>G rs34277626 0.00585
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_033641.4(COL4A6):c.286A>T (p.Met96Leu) rs144792752 0.00553
NM_001252024.2(TRPM1):c.4007C>T (p.Thr1336Met) rs111421899 0.00551
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=) rs139718656 0.00549
NM_001082486.1(ACD):c.162C>T (p.Pro54=) rs73597595 0.00544
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
NM_001159699.2(FHL1):c.204+5C>T rs182106777 0.00542
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_001252024.2(TRPM1):c.1764+9C>G rs147073624 0.00537
NM_001082486.2(ACD):c.1207-10C>T rs67185288 0.00536
NM_153252.5(BRWD3):c.597A>C (p.Ser199=) rs142085721 0.00531
NM_001082486.2(ACD):c.801C>T (p.Ala267=) rs72549181 0.00530
NM_033641.4(COL4A6):c.1125A>G (p.Glu375=) rs142057815 0.00526
NM_001375834.1(WIPF1):c.1413G>A (p.Thr471=) rs149092210 0.00525
NM_000553.6(WRN):c.1725T>C (p.Tyr575=) rs13438802 0.00516
NM_000033.4(ABCD1):c.901-10C>T rs2269365 0.00512
NM_000553.6(WRN):c.1788T>C (p.Ser596=) rs13438803 0.00512
NM_000843.4(GRM6):c.1533C>T (p.His511=) rs61733043 0.00512
NM_001252024.2(TRPM1):c.3938C>T (p.Thr1313Met) rs114875010 0.00511
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882 0.00511
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) rs151148684 0.00506
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_145200.5(CABP4):c.*2679A>G rs77828276 0.00503
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_001399.5(EDA):c.381C>T (p.Ser127=) rs148738342 0.00480
NM_016032.4(ZDHHC9):c.-204+6G>T rs3747339 0.00480
NM_000330.4(RS1):c.258G>A (p.Pro86=) rs147290350 0.00472
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_001082486.2(ACD):c.494-20C>T rs59443695 0.00465
NM_001004334.4(GPR179):c.628G>A (p.Gly210Ser) rs148060036 0.00463
NM_000047.3(ARSL):c.430+8C>T rs56393981 0.00462
NM_001111125.3(IQSEC2):c.3015+14G>C rs189183148 0.00462
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_001252024.2(TRPM1):c.3444C>T (p.Gly1148=) rs79581534 0.00452
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_000054.7(AVPR2):c.12G>A (p.Ala4=) rs61748993 0.00449
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_000283.4(PDE6B):c.1635C>T (p.Phe545=) rs141813304 0.00436
NM_033641.4(COL4A6):c.2888A>T (p.Asn963Ile) rs143146797 0.00431
NM_000283.4(PDE6B):c.270C>T (p.Asp90=) rs80344633 0.00422
NM_000489.6(ATRX):c.485-17C>G rs193223073 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_153252.5(BRWD3):c.*1992G>A rs193085939 0.00420
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile) rs11574395 0.00418
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_001375834.1(WIPF1):c.1296A>G (p.Pro432=) rs76731102 0.00414
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=) rs139619000 0.00414
NM_001167.4(XIAP):c.*4889T>C rs185939201 0.00412
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00404
NM_145200.5(CABP4):c.53G>A (p.Arg18His) rs140245752 0.00399
NM_001079872.2(CUL4B):c.777-12C>T rs192860595 0.00395
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=) rs143580749 0.00390
NM_000240.4(MAOA):c.1374+19G>A rs200078877 0.00388
NM_000032.5(ALAS2):c.*124C>T rs145843014 0.00387
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
NM_000283.4(PDE6B):c.1108-9C>T rs200970775 0.00373
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_001330574.2(ZNF711):c.-297A>T rs772828408 0.00370
NM_144499.3(GNAT1):c.675C>T (p.Ala225=) rs4688684 0.00368
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_000283.4(PDE6B):c.1060-13G>A rs147482093 0.00365
NM_001015877.2(PHF6):c.730-11T>G rs192977933 0.00364
NM_000553.6(WRN):c.1577-17T>G rs145080962 0.00363
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592 0.00362
NM_001015877.2(PHF6):c.374+8T>C rs142596708 0.00360
NM_145200.5(CABP4):c.*120T>A rs372107215 0.00360
NM_000539.3(RHO):c.*1278G>T rs113312341 0.00359
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=) rs150494562 0.00357
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334 0.00357
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=) rs140584437 0.00356
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617 0.00356
NM_000252.3(MTM1):c.232-54A>T rs143312552 0.00356
NM_001256789.3(CACNA1F):c.2334+123G>C rs185254714 0.00356
NM_001079872.2(CUL4B):c.2161-15T>G rs183114462 0.00355
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00350
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_001167.4(XIAP):c.*6549C>T rs193060081 0.00342
NM_000252.3(MTM1):c.64-14T>C rs184956219 0.00340
NM_000252.3(MTM1):c.136+9C>T rs191553188 0.00337
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_001011658.4(TRAPPC2):c.*393G>C rs748998980 0.00336
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_153252.5(BRWD3):c.*5133G>T rs41307391 0.00335
NM_171998.4(RAB39B):c.*1040C>T rs185958813 0.00335
NM_144499.3(GNAT1):c.*410A>G rs557823715 0.00322
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365 0.00316
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_000074.3(CD40LG):c.81A>G (p.Leu27=) rs36063307 0.00313
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_000330.4(RS1):c.76G>A (p.Glu26Lys) rs140983930 0.00308
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_001111125.3(IQSEC2):c.3277+18G>A rs143966238 0.00306
NM_001167.4(XIAP):c.*482G>A rs144625027 0.00303
NM_001330574.2(ZNF711):c.*1411G>A rs779890560 0.00296
NM_033641.4(COL4A6):c.528T>G (p.Pro176=) rs12390371 0.00296
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_033380.3(COL4A5):c.4223C>G (p.Thr1408Ser) rs151278542 0.00294
NM_000117.3(EMD):c.83-13C>G rs201140396 0.00292
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439 0.00292
NM_153252.5(BRWD3):c.*4272C>T rs190439155 0.00283
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730 0.00280
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_001011658.4(TRAPPC2):c.*394T>C rs780042144 0.00274
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_000444.6(PHEX):c.*58C>T rs183223600 0.00262
NM_001252024.2(TRPM1):c.1342G>A (p.Gly448Arg) rs73372436 0.00257
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815 0.00251
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_016032.4(ZDHHC9):c.167+10G>A rs140526450 0.00244
NM_005765.3(ATP6AP2):c.38-5T>C rs190477001 0.00243
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_000240.4(MAOA):c.825G>A (p.Pro275=) rs138703731 0.00238
NM_000283.4(PDE6B):c.711+10C>T rs201100689 0.00237
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_001011658.4(TRAPPC2):c.*709C>G rs181594125 0.00235
NM_198506.5(LRIT3):c.158C>T (p.Thr53Met) rs181200721 0.00233
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_002351.4(SH2D1A):c.-247G>A rs190166840 0.00231
NM_001032382.2(PQBP1):c.-18-69C>T rs150603792 0.00229
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_198506.5(LRIT3):c.*389G>A rs139529995 0.00228
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=) rs35305747 0.00223
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_000240.4(MAOA):c.515G>A (p.Arg172Gln) rs58524323 0.00220
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001330574.2(ZNF711):c.*122G>T rs755444976 0.00218
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976 0.00216
NM_000054.7(AVPR2):c.740G>A (p.Arg247His) rs149668713 0.00215
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys) rs142862074 0.00211
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_001079872.2(CUL4B):c.1257-19T>C rs201629851 0.00205
NM_001011658.4(TRAPPC2):c.*641G>A rs752947538 0.00203
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_016032.4(ZDHHC9):c.777+16C>T rs193236859 0.00196
NM_006950.3(SYN1):c.528-19C>T rs190935498 0.00192
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=) rs144843243 0.00192
NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=) rs144145420 0.00192
NM_001167.4(XIAP):c.*5796C>T rs745822519 0.00191
NM_001082486.2(ACD):c.1336C>T (p.Leu446=) rs1050346 0.00188
NM_001167.4(XIAP):c.*3040G>A rs187400208 0.00188
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) rs151288786 0.00187
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_001375834.1(WIPF1):c.78T>C (p.Asn26=) rs35923393 0.00186
NM_144499.3(GNAT1):c.*1187G>A rs192468377 0.00180
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_001330574.2(ZNF711):c.*1260G>A rs73234669 0.00178
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=) rs142496099 0.00176
NM_000240.4(MAOA):c.1165-13C>T rs184965368 0.00173
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00171
NM_000539.3(RHO):c.*205C>T rs202215179 0.00170
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) rs143538947 0.00170
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_000033.4(ABCD1):c.1393+18C>G rs188551185 0.00164
NM_144499.3(GNAT1):c.939G>A (p.Lys313=) rs201551360 0.00163
NM_153252.5(BRWD3):c.*3447G>A rs767696195 0.00163
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_153252.5(BRWD3):c.*4809T>G rs41311569 0.00162
NM_000539.3(RHO):c.*467A>G rs148165044 0.00161
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser) rs201085962 0.00160
NM_153252.5(BRWD3):c.2044+13A>G rs372899207 0.00159
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_006950.3(SYN1):c.980+14C>T rs376734047 0.00157
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_000033.4(ABCD1):c.1634+12C>T rs369538219 0.00150
NM_033641.4(COL4A6):c.2409G>A (p.Gly803=) rs139372880 0.00149
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=) rs144803723 0.00149
NM_033641.4(COL4A6):c.2400C>A (p.Gly800=) rs60172559 0.00145
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275 0.00141
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_144499.3(GNAT1):c.411G>A (p.Glu137=) rs147238978 0.00140
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980 0.00138
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_001167.4(XIAP):c.*3572A>G rs185763794 0.00137
NM_153252.5(BRWD3):c.*6640T>A rs192201825 0.00137
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys) rs143174629 0.00136
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451 0.00135
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_000132.4(F8):c.4467C>G (p.Val1489=) rs35207609 0.00134
NM_000553.6(WRN):c.2950T>A (p.Leu984Ile) rs146443310 0.00134
NM_001167.4(XIAP):c.*5505G>A rs28745607 0.00134
NM_002578.5(PAK3):c.*463T>C rs761662392 0.00134
NM_153252.5(BRWD3):c.*5333G>T rs180875963 0.00134
NM_000054.7(AVPR2):c.105G>A (p.Leu35=) rs5197 0.00133
NM_000553.6(WRN):c.144A>G (p.Glu48=) rs145959045 0.00133
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=) rs148060509 0.00132
NM_000054.7(AVPR2):c.*204C>T rs184401408 0.00131
NM_033641.4(COL4A6):c.3192A>G (p.Pro1064=) rs149715446 0.00130
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) rs143600441 0.00127
NM_000054.7(AVPR2):c.*320G>A rs782034775 0.00126
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr) rs35397235 0.00126
NM_001167.4(XIAP):c.*4092G>A rs773227715 0.00125
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr) rs145361311 0.00123
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00122
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) rs191365011 0.00118
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787 0.00118
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876 0.00117
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=) rs782713602 0.00115
NM_005391.5(PDK3):c.376A>G (p.Met126Val) rs138321172 0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=) rs140330609 0.00111
NM_198506.5(LRIT3):c.1182A>G (p.Thr394=) rs184650144 0.00111
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952 0.00110
NM_004727.3(SLC24A1):c.-182T>C rs190488986 0.00110
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val) rs140987045 0.00109
NM_000054.7(AVPR2):c.174G>A (p.Val58=) rs201810684 0.00108
NM_001004334.4(GPR179):c.6824T>C (p.Leu2275Pro) rs148601715 0.00108
NM_000132.4(F8):c.*1001C>T rs183289212 0.00107
NM_001159699.2(FHL1):c.498C>T (p.Cys166=) rs145445372 0.00107
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483 0.00107
NM_000054.7(AVPR2):c.1017G>A (p.Leu339=) rs149557877 0.00106
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_001167.4(XIAP):c.*2622G>A rs778277646 0.00105
NM_005120.3(MED12):c.2981+13G>A rs73214870 0.00105
NM_004586.3(RPS6KA3):c.631+18G>A rs182515508 0.00104
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_016032.4(ZDHHC9):c.626-10A>T rs188156112 0.00103
NM_001011658.4(TRAPPC2):c.*2035C>T rs41297317 0.00102
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_006950.3(SYN1):c.1110C>T (p.Cys370=) rs141925310 0.00101
NM_004586.3(RPS6KA3):c.1023T>C (p.His341=) rs150848826 0.00100
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602 0.00100
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His) rs148929548 0.00100
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701 0.00098
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118 0.00097
NM_001330574.2(ZNF711):c.2106A>G (p.Thr702=) rs138675194 0.00097
NM_001082486.2(ACD):c.444C>T (p.Leu148=) rs151132164 0.00096
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) rs188138322 0.00093
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 0.00091
NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln) rs146510405 0.00091
NM_000489.6(ATRX):c.5787-20G>T rs185359850 0.00090
NM_033641.4(COL4A6):c.3138+17C>T rs369016527 0.00090
NM_001110556.2(FLNA):c.1066-19C>T rs369196285 0.00089
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978 0.00088
NM_153252.5(BRWD3):c.*5264G>T rs760065405 0.00087
NM_033641.4(COL4A6):c.432C>T (p.Leu144=) rs2295920 0.00086
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914 0.00085
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_004586.3(RPS6KA3):c.244-5T>C rs192189478 0.00083
NM_033641.4(COL4A6):c.1431C>T (p.Asp477=) rs139740946 0.00083
NM_000054.7(AVPR2):c.643G>A (p.Val215Met) rs112109182 0.00082
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_001004334.4(GPR179):c.1477C>T (p.His493Tyr) rs114716738 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598 0.00080
NM_001110556.2(FLNA):c.3805+16G>A rs201016252 0.00080
NM_001167.4(XIAP):c.276T>C (p.Phe92=) rs45575532 0.00080
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_144499.3(GNAT1):c.*2329A>G rs187096133 0.00079
NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=) rs146425236 0.00079
NM_000444.6(PHEX):c.-126C>G rs185830047 0.00078
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln) rs141305388 0.00077
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln) rs142508831 0.00077
NM_001110556.2(FLNA):c.720+12C>T rs367894653 0.00076
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012 0.00076
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_001159699.2(FHL1):c.786C>T (p.His262=) rs141231353 0.00074
NM_000283.4(PDE6B):c.1083C>T (p.Ser361=) rs142802752 0.00073
NM_000377.3(WAS):c.413G>A (p.Arg138Gln) rs139265251 0.00073
NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys) rs202109957 0.00073
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp) rs150107747 0.00073
NM_014271.4(IL1RAPL1):c.-20C>T rs200878713 0.00072
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512 0.00071
NM_000283.4(PDE6B):c.852+12G>A rs201676629 0.00070
NM_000444.6(PHEX):c.849+3A>G rs200585038 0.00070
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_000553.6(WRN):c.3237G>A (p.Ser1079=) rs11574345 0.00069
NM_001110556.2(FLNA):c.753C>T (p.Asn251=) rs377507152 0.00069
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_001167.4(XIAP):c.*2729C>G rs745491539 0.00068
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala) rs138783302 0.00068
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_005334.3(HCFC1):c.503+14C>G rs371163886 0.00068
NM_000033.4(ABCD1):c.-202C>G rs781978041 0.00067
NM_001110556.2(FLNA):c.4142+5_4142+14dup rs782735723 0.00067
NM_001159699.2(FHL1):c.114G>A (p.Lys38=) rs140149764 0.00067
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_014271.4(IL1RAPL1):c.83-6C>T rs180930821 0.00066
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828 0.00065
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_000033.4(ABCD1):c.*985C>G rs782309410 0.00063
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501 0.00063
NM_033641.4(COL4A6):c.4299T>A (p.Gly1433=) rs2294464 0.00063
NM_001110556.2(FLNA):c.651C>T (p.Asp217=) rs34644500 0.00062
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys) rs781984542 0.00062
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000054.7(AVPR2):c.117G>A (p.Ala39=) rs374487946 0.00061
NM_000283.4(PDE6B):c.1218C>T (p.Asp406=) rs148190219 0.00061
NM_002578.5(PAK3):c.483A>G (p.Ala161=) rs146801179 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
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_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro) rs149027201 0.00060
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) rs2274308 0.00060
NM_002351.5(SH2D1A):c.-74T>A rs142160401 0.00059
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823 0.00058
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=) rs200399318 0.00058
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln) rs201560745 0.00058
NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu) rs144827029 0.00057
NM_000390.4(CHM):c.1620A>G (p.Gln540=) rs140479582 0.00057
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu) rs138682290 0.00056
NM_000390.4(CHM):c.205G>C (p.Val69Leu) rs145088557 0.00056
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys) rs139131007 0.00056
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=) rs149960511 0.00056
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956 0.00055
NM_001330574.2(ZNF711):c.*272G>A rs187954106 0.00055
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332 0.00055
NM_000132.4(F8):c.*1214G>A rs34700571 0.00054
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_006950.3(SYN1):c.426A>G (p.Lys142=) rs145911562 0.00054
NM_000252.3(MTM1):c.615G>A (p.Pro205=) rs144517020 0.00053
NM_000377.3(WAS):c.90C>T (p.His30=) rs148800063 0.00053
NM_000047.3(ARSL):c.775C>G (p.His259Asp) rs138149353 0.00052
NM_014332.3(SMPX):c.132G>A (p.Glu44=) rs199907508 0.00052
NM_000252.3(MTM1):c.867+13A>C rs368954714 0.00051
NM_000539.3(RHO):c.*1200T>C rs538744995 0.00051
NM_001110556.2(FLNA):c.6907+14G>T rs199934017 0.00051
NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser) rs138276021 0.00051
NM_171998.4(RAB39B):c.*1079A>C rs147409916 0.00051
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_000553.6(WRN):c.1882C>G (p.Leu628Val) rs77969734 0.00050
NM_001167.4(XIAP):c.*4024C>T rs28382750 0.00050
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=) rs376756703 0.00050
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn) rs200709847 0.00049
NM_153252.5(BRWD3):c.*2723A>G rs756899423 0.00049
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) rs139415350 0.00048
NM_000052.7(ATP7A):c.3801+6T>C rs181665434 0.00048
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=) rs114100439 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768 0.00047
NM_002764.4(PRPS1):c.*725T>C rs183744100 0.00047
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740 0.00046
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys) rs144590560 0.00046
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_033641.4(COL4A6):c.1533A>G (p.Lys511=) rs139333183 0.00046
NM_198506.5(LRIT3):c.1317G>A (p.Lys439=) rs189069580 0.00044
NM_000047.3(ARSL):c.897C>T (p.His299=) rs148471739 0.00043
NM_000166.6(GJB1):c.-6G>A rs201344743 0.00043
NM_000390.4(CHM):c.29A>G (p.Asp10Gly) rs138374611 0.00042
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_002764.4(PRPS1):c.*158C>T rs777440100 0.00042
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=) rs202125585 0.00041
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_001004334.4(GPR179):c.2022C>T (p.Asp674=) rs79623844 0.00041
NM_001110556.2(FLNA):c.3207+14G>A rs200710010 0.00041
NM_000166.6(GJB1):c.*309G>A rs181881705 0.00040
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) rs372863999 0.00040
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) rs377463848 0.00040
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589 0.00040
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154 0.00039
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637 0.00039
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044 0.00039
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00039
NM_144499.3(GNAT1):c.876C>T (p.Tyr292=) rs142612552 0.00039
NM_001167.4(XIAP):c.*4380G>A rs181285458 0.00038
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797 0.00038
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00038
NM_005120.3(MED12):c.5400+7G>A rs201254124 0.00038
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) rs369241538 0.00038
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474 0.00038
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199 0.00037
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448 0.00037
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582 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_001082486.2(ACD):c.99+18G>A rs369046068 0.00036
NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=) rs782651736 0.00036
NM_005120.3(MED12):c.397-12A>T rs192515277 0.00036
NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg) rs138267399 0.00036
NM_000390.4(CHM):c.8A>G (p.Asp3Gly) rs149255670 0.00035
NM_001011658.4(TRAPPC2):c.*546G>A rs777240291 0.00035
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689 0.00035
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475 0.00035
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) rs190844812 0.00035
NM_005334.3(HCFC1):c.4943-11C>T rs375388306 0.00035
NM_016032.4(ZDHHC9):c.291G>A (p.Ala97=) rs77513704 0.00035
NM_144499.3(GNAT1):c.*1990G>A rs184223436 0.00035
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852 0.00034
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=) rs145073701 0.00034
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_001167.4(XIAP):c.309G>A (p.Thr103=) rs140230812 0.00034
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111 0.00034
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062 0.00034
NM_005391.5(PDK3):c.750+5G>A rs187646579 0.00034
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945 0.00033
NM_000283.4(PDE6B):c.2352+3G>A rs111504036 0.00033
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00033
NM_001399.5(EDA):c.60A>C (p.Arg20=) rs183801635 0.00033
NM_000283.4(PDE6B):c.1401+5G>A rs201623488 0.00032
NM_000283.4(PDE6B):c.966C>T (p.His322=) rs143711050 0.00032
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267 0.00032
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729 0.00032
NM_033641.4(COL4A6):c.3809-14G>A rs192754010 0.00032
NM_033641.4(COL4A6):c.4404G>A (p.Thr1468=) rs147362613 0.00032
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu) rs373524969 0.00031
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394 0.00031
NM_002351.5(SH2D1A):c.*1689C>A rs186082107 0.00031
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617 0.00031
NM_001110556.2(FLNA):c.1328G>A (p.Arg443His) rs782282149 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410 0.00030
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp) rs150911744 0.00030
NM_001167.4(XIAP):c.*2682T>G rs191855689 0.00030
NM_000252.3(MTM1):c.582C>T (p.Leu194=) rs367912069 0.00029
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_000489.6(ATRX):c.4957-20T>C rs373789026 0.00029
NM_000539.3(RHO):c.519C>T (p.Ala173=) rs149722668 0.00029
NM_001110556.2(FLNA):c.2023-8C>T rs587780335 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) rs201458268 0.00029
NM_001167.4(XIAP):c.*5331G>A rs777622382 0.00029
NM_001252024.2(TRPM1):c.729C>T (p.Gly243=) rs188427342 0.00029
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00029
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=) rs373690520 0.00029
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) rs782134465 0.00028
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569 0.00028
NM_000377.3(WAS):c.1200G>A (p.Pro400=) rs375356111 0.00028
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) rs781805662 0.00028
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=) rs781955031 0.00028
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841 0.00027
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val) rs371580333 0.00027
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00027
NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys) rs139646537 0.00027
NM_001110556.2(FLNA):c.2656+18A>G rs375154492 0.00026
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125 0.00026
NM_001399.5(EDA):c.464G>A (p.Arg155His) rs144403117 0.00026
NM_005120.3(MED12):c.4528-19T>C rs370859385 0.00026
NM_144499.3(GNAT1):c.241G>A (p.Val81Ile) rs201849628 0.00026
NM_153252.5(BRWD3):c.2184G>A (p.Ala728=) rs369118921 0.00026
NM_001004334.4(GPR179):c.6798T>G (p.Phe2266Leu) rs141146547 0.00025
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu) rs143490560 0.00025
NM_005120.3(MED12):c.736-14C>G rs373707149 0.00025
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu) rs368606000 0.00024
NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln) rs145115086 0.00024
NM_000132.4(F8):c.601+17G>A rs200951849 0.00024
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_001167.4(XIAP):c.*3707T>G rs766102484 0.00024
NM_001167.4(XIAP):c.23G>A (p.Gly8Glu) rs140889955 0.00024
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755 0.00023
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319 0.00023
NM_002578.5(PAK3):c.-63A>G rs192192146 0.00023
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly) rs778734352 0.00023
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642 0.00022
NM_000054.7(AVPR2):c.742C>T (p.Arg248Cys) rs782516523 0.00022
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg) rs1800466 0.00022
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843 0.00022
NM_001159699.2(FHL1):c.737-9T>C rs914754937 0.00022
NM_016032.4(ZDHHC9):c.978+15C>T rs367975001 0.00022
NM_031206.7(LAS1L):c.1893A>C (p.Gly631=) rs200815004 0.00022
NM_000117.3(EMD):c.639T>C (p.Pro213=) rs782196388 0.00021
NM_000132.4(F8):c.1866T>C (p.Leu622=) rs1800290 0.00021
NM_000377.3(WAS):c.1455C>T (p.Asp485=) rs35359501 0.00021
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_003588.4(CUL4B):c.65G>A (p.Gly22Asp) rs145808703 0.00021
NM_006950.3(SYN1):c.1055+12G>A rs373071109 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_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_000489.6(ATRX):c.1467C>T (p.Thr489=) rs199929884 0.00020
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln) rs143413618 0.00020
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631 0.00020
NM_001167.4(XIAP):c.455C>G (p.Thr152Ser) rs150317928 0.00020
NM_001353921.2(ARHGEF9):c.946-4C>A rs56398019 0.00020
NM_005120.3(MED12):c.2055+19G>A rs373450304 0.00020
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00020
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=) rs200345511 0.00020
NM_033641.4(COL4A6):c.1922C>T (p.Pro641Leu) rs140900431 0.00020
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397 0.00019
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000283.4(PDE6B):c.1805G>A (p.Arg602His) rs752846577 0.00019
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601 0.00019
NM_005334.3(HCFC1):c.4942+11G>A rs782730900 0.00019
NM_006950.3(SYN1):c.999G>T (p.Gly333=) rs752926074 0.00019
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092 0.00018
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_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00018
NM_000489.6(ATRX):c.4215-5G>A rs111833322 0.00018
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00018
NM_001110556.2(FLNA):c.2103C>T (p.His701=) rs200227077 0.00018
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372 0.00018
NM_001110556.2(FLNA):c.2954T>C (p.Val985Ala) rs782804253 0.00018
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848 0.00018
NM_001110556.2(FLNA):c.6847A>C (p.Ile2283Leu) rs373037983 0.00018
NM_001110556.2(FLNA):c.958G>A (p.Val320Met) rs781889196 0.00018
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val) rs141815718 0.00018
NM_000054.7(AVPR2):c.317G>A (p.Arg106His) rs201053959 0.00017
NM_000252.3(MTM1):c.867+17A>G rs371239013 0.00017
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=) rs147706810 0.00017
NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=) rs766164918 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_139058.3(ARX):c.663C>T (p.Thr221=) rs1006404746 0.00017
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000054.7(AVPR2):c.126G>A (p.Ala42=) rs2234695 0.00016
NM_000074.3(CD40LG):c.708G>A (p.Ser236=) rs146620753 0.00016
NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys) rs143908642 0.00016
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) rs369668866 0.00016
NM_001110556.2(FLNA):c.5534G>A (p.Arg1845His) rs782193125 0.00016
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848 0.00016
NM_001252024.2(TRPM1):c.4812G>C (p.Val1604=) rs143866050 0.00016
NM_001375834.1(WIPF1):c.1164C>T (p.Asn388=) rs41270199 0.00016
NM_001399.5(EDA):c.833C>G (p.Thr278Ser) rs375753764 0.00016
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) rs140296303 0.00016
NM_033641.4(COL4A6):c.4609C>T (p.Arg1537Cys) rs376450994 0.00016
NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp) rs375418085 0.00016
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00015
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly) rs201284965 0.00015
NM_001015877.2(PHF6):c.241-13C>T rs375674521 0.00015
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_001368397.1(FRMPD4):c.2599A>G (p.Asn867Asp) rs144170600 0.00015
NM_005120.3(MED12):c.554-16T>A rs760845015 0.00015
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=) rs370379881 0.00015
NM_033380.3(COL4A5):c.3029A>G (p.Asn1010Ser) rs151077921 0.00015
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_139058.3(ARX):c.148T>C (p.Leu50=) rs370342380 0.00015
NM_000033.4(ABCD1):c.1780+4G>A rs193922095 0.00014
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279 0.00014
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_000074.3(CD40LG):c.487G>A (p.Val163Ile) rs199914973 0.00014
NM_000117.3(EMD):c.432A>G (p.Glu144=) rs377125466 0.00014
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala) rs200436490 0.00014
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001110556.2(FLNA):c.4506C>T (p.Asn1502=) rs200857989 0.00014
NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn) rs190415098 0.00014
NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn) rs782555930 0.00014
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) rs782748026 0.00014
NM_001111125.3(IQSEC2):c.2007C>T (p.Gly669=) rs782769823 0.00014
NM_001167.4(XIAP):c.*5140C>T rs762047770 0.00014
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00014
NM_001399.5(EDA):c.435A>G (p.Pro145=) rs146844463 0.00014
NM_005334.3(HCFC1):c.6069-5C>T rs782321258 0.00014
NM_006950.3(SYN1):c.980+20C>A rs777705880 0.00014
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp) rs781932570 0.00013
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376 0.00013
NM_000054.7(AVPR2):c.*326A>C rs781796044 0.00013
NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn) rs138423108 0.00013
NM_000307.5(POU3F4):c.753G>A (p.Leu251=) rs779713849 0.00013
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=) rs185389157 0.00013
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951 0.00013
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856 0.00013
NM_002578.5(PAK3):c.918G>A (p.Lys306=) rs151056810 0.00013
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu) rs149016283 0.00013
NM_004727.3(SLC24A1):c.1374C>T (p.His458=) rs370043190 0.00013
NM_005120.3(MED12):c.1101+18C>T rs200510424 0.00013
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175 0.00013
NM_005334.3(HCFC1):c.6005-18C>G rs781820710 0.00013
NM_005391.5(PDK3):c.36G>A (p.Val12=) rs747337773 0.00013
NM_033641.4(COL4A6):c.835-6A>G rs189915873 0.00013
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His) rs181034787 0.00013
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976 0.00012
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_000074.3(CD40LG):c.38C>T (p.Ala13Val) rs368003929 0.00012
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys) rs770842444 0.00012
NM_000475.5(NR0B1):c.96G>C (p.Thr32=) rs752999448 0.00012
NM_000489.6(ATRX):c.4317+13T>C rs201710363 0.00012
NM_000489.6(ATRX):c.662+11T>C rs375372323 0.00012
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser) rs781853125 0.00012
NM_001110556.2(FLNA):c.1933G>A (p.Val645Ile) rs373286506 0.00012
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) rs367674709 0.00012
NM_001111125.3(IQSEC2):c.2952A>C (p.Pro984=) rs782760727 0.00012
NM_001378477.3(NYX):c.1238C>G (p.Ser413Cys) rs776029387 0.00012
NM_001399.5(EDA):c.390G>T (p.Gly130=) rs143746851 0.00012
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189 0.00012
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=) rs370113081 0.00012
NM_000033.4(ABCD1):c.*473C>T rs782343473 0.00011
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr) rs147340102 0.00011
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375 0.00011
NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro) rs199521106 0.00011
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 0.00011
NM_000489.6(ATRX):c.1032C>T (p.Ser344=) rs143491422 0.00011
NM_000489.6(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507 0.00011
NM_001032382.2(PQBP1):c.585C>T (p.Ser195=) rs149688357 0.00011
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299 0.00011
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) rs782320818 0.00011
NM_001110556.2(FLNA):c.1828+3A>G rs368041880 0.00011
NM_001111125.3(IQSEC2):c.2931G>A (p.Gln977=) rs140023181 0.00011
NM_001111125.3(IQSEC2):c.3116-19G>A rs782264682 0.00011
NM_001167.4(XIAP):c.1056+19A>T rs769758486 0.00011
NM_001353921.2(ARHGEF9):c.946-16C>T rs781867369 0.00011
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932 0.00011
NM_144499.3(GNAT1):c.38G>A (p.Arg13Lys) rs201006405 0.00011
NM_144499.3(GNAT1):c.83G>A (p.Arg28Gln) rs149936603 0.00011
NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=) rs140203774 0.00011
NM_000033.4(ABCD1):c.108G>A (p.Val36=) rs368718078 0.00010
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=) rs782742220 0.00010
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000074.3(CD40LG):c.114G>A (p.Gly38=) rs767319189 0.00010
NM_000074.3(CD40LG):c.30C>G (p.Pro10=) rs375387574 0.00010
NM_000074.3(CD40LG):c.600A>G (p.Arg200=) rs374246579 0.00010
NM_000252.3(MTM1):c.86G>A (p.Arg29Gln) rs782072494 0.00010
NM_000283.4(PDE6B):c.2352+14G>A rs752968664 0.00010
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_000377.3(WAS):c.903G>C (p.Glu301Asp) rs781898144 0.00010
NM_000489.6(ATRX):c.3880G>C (p.Asp1294His) rs782386546 0.00010
NM_000489.6(ATRX):c.4214+6A>G rs782562759 0.00010
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00010
NM_000539.3(RHO):c.361+10G>A rs372128112 0.00010
NM_000539.3(RHO):c.744G>A (p.Lys248=) rs141185480 0.00010
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380 0.00010
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00010
NM_001110556.2(FLNA):c.6227-7C>T rs370491691 0.00010
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His) rs781881872 0.00010
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=) rs782129907 0.00010
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813 0.00010
NM_001167.4(XIAP):c.1230G>A (p.Leu410=) rs761489362 0.00010
NM_005120.3(MED12):c.321A>C (p.Ala107=) rs748627661 0.00010
NM_005120.3(MED12):c.3357C>T (p.Val1119=) rs773679943 0.00010
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_005120.3(MED12):c.6201A>G (p.Gln2067=) rs375793297 0.00010
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_005391.5(PDK3):c.282T>C (p.Tyr94=) rs201198782 0.00010
NM_005391.5(PDK3):c.674-11T>C rs756028485 0.00010
NM_016032.4(ZDHHC9):c.984C>G (p.Pro328=) rs146317883 0.00010
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) rs777574933 0.00010
NM_153252.5(BRWD3):c.*575G>T rs776687351 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_000054.7(AVPR2):c.311G>A (p.Arg104His) rs373990379 0.00009
NM_000054.7(AVPR2):c.769G>A (p.Gly257Ser) rs143480277 0.00009
NM_000074.3(CD40LG):c.595G>A (p.Gly199Ser) rs769728462 0.00009
NM_000283.4(PDE6B):c.2193+5G>A rs576895229 0.00009
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823 0.00009
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser) rs140224236 0.00009
NM_000307.5(POU3F4):c.*22C>G rs201213510 0.00009
NM_000377.3(WAS):c.696G>A (p.Lys232=) rs368379103 0.00009
NM_000489.6(ATRX):c.189+7A>G rs781842591 0.00009
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015 0.00009
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00009
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.798C>T (p.Tyr266=) rs376341197 0.00009
NM_001011658.4(TRAPPC2):c.*302A>G rs771210112 0.00009
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) rs371707134 0.00009
NM_001110556.2(FLNA):c.2181C>T (p.Gly727=) rs376972653 0.00009
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys) rs369768801 0.00009
NM_001110556.2(FLNA):c.423C>T (p.Ile141=) rs782198156 0.00009
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) rs191786597 0.00009
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917 0.00009
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=) rs182894587 0.00009
NM_001110556.2(FLNA):c.7023+10C>T rs782777494 0.00009
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg) rs781823700 0.00009
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713 0.00009
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) rs200694807 0.00009
NM_001110556.2(FLNA):c.7756+20G>A rs782395246 0.00009
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_001167.4(XIAP):c.499T>C (p.Leu167=) rs374298061 0.00009
NM_002351.5(SH2D1A):c.138-19G>A rs370365609 0.00009
NM_005120.3(MED12):c.2721G>A (p.Leu907=) rs757010467 0.00009
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066 0.00009
NM_005120.3(MED12):c.5103T>C (p.Ser1701=) rs762801267 0.00009
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro) rs201843482 0.00009
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) rs375755315 0.00009
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411 0.00009
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666 0.00009
NM_005391.5(PDK3):c.341A>C (p.Lys114Thr) rs146331370 0.00009
NM_016032.4(ZDHHC9):c.144A>T (p.Thr48=) rs145877196 0.00009
NM_016032.4(ZDHHC9):c.674+9C>T rs376385410 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_080632.3(UPF3B):c.1302+8T>C rs776786838 0.00009
NM_080632.3(UPF3B):c.470-19T>C rs779967826 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_000074.3(CD40LG):c.594C>T (p.Pro198=) rs370353192 0.00008
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_000377.3(WAS):c.264C>T (p.Tyr88=) rs150520117 0.00008
NM_000377.3(WAS):c.285G>A (p.Leu95=) rs781799471 0.00008
NM_000444.6(PHEX):c.*361T>C rs182654518 0.00008
NM_000489.6(ATRX):c.2530A>G (p.Thr844Ala) rs142601264 0.00008
NM_000489.6(ATRX):c.5221A>C (p.Arg1741=) rs782633224 0.00008
NM_001015877.2(PHF6):c.714C>T (p.Ala238=) rs761180935 0.00008
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) rs782684339 0.00008
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) rs782741007 0.00008
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr) rs185503240 0.00008
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) rs368009936 0.00008
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) rs782265007 0.00008
NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu) rs377576796 0.00008
NM_001111125.3(IQSEC2):c.2297+4C>T rs781794155 0.00008
NM_001167.4(XIAP):c.1096A>G (p.Ile366Val) rs766720607 0.00008
NM_001167.4(XIAP):c.146G>A (p.Arg49Gln) rs770122195 0.00008
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu) rs371605184 0.00008
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) rs150129110 0.00008
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001399.5(EDA):c.741+9G>A rs751258727 0.00008
NM_002578.5(PAK3):c.665C>A (p.Pro222Gln) rs778585528 0.00008
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro) rs747413033 0.00008
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858 0.00008
NM_005120.3(MED12):c.4851G>A (p.Ala1617=) rs377210068 0.00008
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=) rs782684668 0.00008
NM_014271.4(IL1RAPL1):c.550-4A>G rs368301683 0.00008
NM_016032.4(ZDHHC9):c.1033G>A (p.Glu345Lys) rs185917523 0.00008
NM_016032.4(ZDHHC9):c.168-18A>G rs753763200 0.00008
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser) rs775715153 0.00008
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=) rs781928741 0.00007
NM_000033.4(ABCD1):c.1865+16C>T rs782719238 0.00007
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000033.4(ABCD1):c.504C>G (p.Ala168=) rs782453684 0.00007
NM_000033.4(ABCD1):c.870G>A (p.Ser290=) rs782563177 0.00007
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_000117.3(EMD):c.400-14A>G rs781916367 0.00007
NM_000252.3(MTM1):c.422C>T (p.Ala141Val) rs140642341 0.00007
NM_000489.6(ATRX):c.1245C>T (p.Ser415=) rs141815992 0.00007
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg) rs782598442 0.00007
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu) rs149232501 0.00007
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn) rs151273832 0.00007
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=) rs782615607 0.00007
NM_001110556.2(FLNA):c.2023-4C>G rs368719012 0.00007
NM_001110556.2(FLNA):c.2522G>A (p.Arg841Gln) rs201451383 0.00007
NM_001110556.2(FLNA):c.2657-19G>A rs782352062 0.00007
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys) rs781844419 0.00007
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00007
NM_001110556.2(FLNA):c.3801C>T (p.Gly1267=) rs1324902589 0.00007
NM_001110556.2(FLNA):c.4577G>A (p.Gly1526Glu) rs782649462 0.00007
NM_001110556.2(FLNA):c.5190C>T (p.His1730=) rs781793192 0.00007
NM_001110556.2(FLNA):c.6227-10C>T rs782748718 0.00007
NM_001110556.2(FLNA):c.6651G>A (p.Lys2217=) rs782053982 0.00007
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930 0.00007
NM_001111125.3(IQSEC2):c.214C>T (p.Leu72=) rs782434593 0.00007
NM_001111125.3(IQSEC2):c.2157C>G (p.Asp719Glu) rs142545002 0.00007
NM_001111125.3(IQSEC2):c.2262G>A (p.Arg754=) rs1408670208 0.00007
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His) rs782727618 0.00007
NM_001111125.3(IQSEC2):c.3015+9A>G rs781956154 0.00007
NM_001111125.3(IQSEC2):c.3541C>T (p.Pro1181Ser) rs782101524 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly) rs182340753 0.00007
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=) rs782313473 0.00007
NM_001399.5(EDA):c.526+10T>G rs957016563 0.00007
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_005120.3(MED12):c.3111G>A (p.Thr1037=) rs185658730 0.00007
NM_005120.3(MED12):c.4359G>A (p.Lys1453=) rs766087487 0.00007
NM_005120.3(MED12):c.4950G>A (p.Thr1650=) rs756839501 0.00007
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438 0.00007
NM_005120.3(MED12):c.5712G>A (p.Ala1904=) rs189962028 0.00007
NM_005334.3(HCFC1):c.1085-16C>G rs201181843 0.00007
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=) rs782754046 0.00007
NM_005334.3(HCFC1):c.2029-9C>G rs374910917 0.00007
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) rs782058954 0.00007
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) rs183246703 0.00007
NM_006950.3(SYN1):c.981-19C>T rs375349005 0.00007
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) rs766767923 0.00007
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) rs199727706 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_000074.3(CD40LG):c.39G>A (p.Ala13=) rs779460863 0.00006
NM_000117.3(EMD):c.188-12C>T rs371016049 0.00006
NM_000252.3(MTM1):c.1455T>C (p.Ala485=) rs141358705 0.00006
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) rs148195763 0.00006
NM_000283.3(PDE6B):c.*764G>A rs575639886 0.00006
NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=) rs750323428 0.00006
NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr) rs149880099 0.00006
NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu) rs189172362 0.00006
NM_000283.4(PDE6B):c.699G>A (p.Thr233=) rs148264146 0.00006
NM_000377.3(WAS):c.1299G>A (p.Ala433=) rs372649110 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_000377.3(WAS):c.724A>T (p.Ser242Cys) rs782286374 0.00006
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.12G>A (p.Glu4=) rs782765957 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.2313G>A (p.Ala771=) rs373458498 0.00006
NM_000489.6(ATRX):c.2397G>C (p.Lys799Asn) rs782253706 0.00006
NM_000489.6(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074 0.00006
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn) rs782512381 0.00006
NM_000489.6(ATRX):c.370+8G>A rs782746673 0.00006
NM_000489.6(ATRX):c.3972A>G (p.Ser1324=) rs782638271 0.00006
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=) rs781984385 0.00006
NM_000489.6(ATRX):c.485-18G>A rs782461396 0.00006
NM_000489.6(ATRX):c.5001C>T (p.Tyr1667=) rs202114901 0.00006
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile) rs782007408 0.00006
NM_001110556.2(FLNA):c.13C>T (p.His5Tyr) rs781866647 0.00006
NM_001110556.2(FLNA):c.2220G>A (p.Pro740=) rs202055800 0.00006
NM_001110556.2(FLNA):c.2451C>T (p.Pro817=) rs782192587 0.00006
NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser) rs372718245 0.00006
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=) rs183948518 0.00006
NM_001110556.2(FLNA):c.5492G>A (p.Arg1831Gln) rs781882457 0.00006
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=) rs782204300 0.00006
NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys) rs781860863 0.00006
NM_001110556.2(FLNA):c.6303G>A (p.Thr2101=) rs372978023 0.00006
NM_001110556.2(FLNA):c.66C>T (p.Asp22=) rs782358007 0.00006
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=) rs201203814 0.00006
NM_001110556.2(FLNA):c.768T>C (p.Ser256=) rs782357419 0.00006
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) rs200836471 0.00006
NM_001111125.3(IQSEC2):c.2582+11C>A rs782764289 0.00006
NM_001111125.3(IQSEC2):c.3015+16G>A rs184771608 0.00006
NM_001111125.3(IQSEC2):c.3895C>T (p.Pro1299Ser) rs782355048 0.00006
NM_001167.4(XIAP):c.1100-19T>G rs28382736 0.00006
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly) rs200273554 0.00006
NM_001167.4(XIAP):c.296A>G (p.Glu99Gly) rs769904534 0.00006
NM_001399.5(EDA):c.1070G>A (p.Arg357Gln) rs61747506 0.00006
NM_004727.3(SLC24A1):c.2884-15G>A rs371022531 0.00006
NM_005120.3(MED12):c.5205C>T (p.Arg1735=) rs747836622 0.00006
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236 0.00006
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_005334.3(HCFC1):c.1803+13C>T rs368179780 0.00006
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) rs782207714 0.00006
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=) rs372071273 0.00006
NM_014271.4(IL1RAPL1):c.1443C>T (p.Tyr481=) rs777536426 0.00006
NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=) rs748193306 0.00006
NM_033641.4(COL4A6):c.672A>G (p.Gly224=) rs762112922 0.00006
NM_153252.5(BRWD3):c.*5741G>T rs139358289 0.00006
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=) rs368764287 0.00005
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134 0.00005
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser) rs965462099 0.00005
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_000054.7(AVPR2):c.546C>T (p.Asn182=) rs13306213 0.00005
NM_000074.3(CD40LG):c.314C>T (p.Thr105Met) rs376582437 0.00005
NM_000074.3(CD40LG):c.741G>C (p.Val247=) rs764969326 0.00005
NM_000117.3(EMD):c.746A>G (p.Glu249Gly) rs781947413 0.00005
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) rs201373390 0.00005
NM_000252.3(MTM1):c.546T>C (p.His182=) rs782217349 0.00005
NM_000252.3(MTM1):c.620G>A (p.Arg207His) rs187357952 0.00005
NM_000252.3(MTM1):c.755A>G (p.Lys252Arg) rs782740989 0.00005
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) rs145124626 0.00005
NM_000330.4(RS1):c.7C>G (p.Arg3Gly) rs571944937 0.00005
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) rs201657175 0.00005
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser) rs782784813 0.00005
NM_000377.3(WAS):c.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr) rs766116884 0.00005
NM_000489.6(ATRX):c.118A>G (p.Met40Val) rs149990714 0.00005
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu) rs782529714 0.00005
NM_000489.6(ATRX):c.2697G>A (p.Thr899=) rs137974888 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val) rs782257568 0.00005
NM_000489.6(ATRX):c.3907A>G (p.Thr1303Ala) rs781836912 0.00005
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=) rs369658928 0.00005
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=) rs781829081 0.00005
NM_000489.6(ATRX):c.4746A>G (p.Thr1582=) rs782097254 0.00005
NM_000489.6(ATRX):c.5957-9C>G rs375791318 0.00005
NM_000489.6(ATRX):c.6018T>A (p.Val2006=) rs781802180 0.00005
NM_000489.6(ATRX):c.6110+15A>G rs1309299805 0.00005
NM_000489.6(ATRX):c.6873A>G (p.Ile2291Met) rs192057045 0.00005
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=) rs139730174 0.00005
NM_001081550.2(THOC2):c.2481+42A>G rs780461608 0.00005
NM_001110556.2(FLNA):c.1806C>T (p.Ile602=) rs782543203 0.00005
NM_001110556.2(FLNA):c.1807G>A (p.Gly603Arg) rs200116438 0.00005
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139 0.00005
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) rs377579695 0.00005
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=) rs370476531 0.00005
NM_001110556.2(FLNA):c.4893G>A (p.Pro1631=) rs1984380 0.00005
NM_001110556.2(FLNA):c.543G>A (p.Pro181=) rs201486643 0.00005
NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=) rs782745205 0.00005
NM_001110556.2(FLNA):c.6964G>A (p.Val2322Met) rs782084497 0.00005
NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn) rs371689052 0.00005
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586 0.00005
NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu) rs371830740 0.00005
NM_001111125.3(IQSEC2):c.1449G>A (p.Pro483=) rs200629644 0.00005
NM_001111125.3(IQSEC2):c.1496G>T (p.Arg499Leu) rs782243346 0.00005
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln) rs782420335 0.00005
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=) rs782132072 0.00005
NM_001111125.3(IQSEC2):c.3115+11T>G rs782704136 0.00005
NM_001111125.3(IQSEC2):c.569C>T (p.Ala190Val) rs1003745171 0.00005
NM_001167.4(XIAP):c.*5295A>T rs755335432 0.00005
NM_001167.4(XIAP):c.*5870G>T rs187282700 0.00005
NM_001167.4(XIAP):c.115G>T (p.Gly39Cys) rs775237858 0.00005
NM_001167.4(XIAP):c.1194G>T (p.Gln398His) rs776377233 0.00005
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363 0.00005
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val) rs781988728 0.00005
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser) rs781870482 0.00005
NM_001353921.2(ARHGEF9):c.729T>C (p.Asp243=) rs781930227 0.00005
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=) rs369716500 0.00005
NM_001399.5(EDA):c.717T>G (p.Asp239Glu) rs766810445 0.00005
NM_002578.5(PAK3):c.-15T>C rs758607736 0.00005
NM_002578.5(PAK3):c.9C>T (p.Asp3=) rs745645606 0.00005
NM_004586.3(RPS6KA3):c.1242C>T (p.Asn414=) rs142680221 0.00005
NM_004586.3(RPS6KA3):c.1246A>G (p.Ile416Val) rs148050184 0.00005
NM_005120.3(MED12):c.2685+17G>T rs767584131 0.00005
NM_005120.3(MED12):c.4880G>A (p.Arg1627His) rs759857680 0.00005
NM_005120.3(MED12):c.5109C>T (p.Gly1703=) rs781134410 0.00005
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624 0.00005
NM_005120.3(MED12):c.6003G>A (p.Gln2001=) rs1226474526 0.00005
NM_005120.3(MED12):c.6072A>T (p.Thr2024=) rs200692655 0.00005
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val) rs748668603 0.00005
NM_005120.3(MED12):c.906A>G (p.Thr302=) rs1458066906 0.00005
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=) rs200268397 0.00005
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) rs201117046 0.00005
NM_005334.3(HCFC1):c.1606-13G>A rs782300809 0.00005
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=) rs371233332 0.00005
NM_005334.3(HCFC1):c.1804-18C>T rs1057522797 0.00005
NM_005334.3(HCFC1):c.2134-20C>A rs368718262 0.00005
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=) rs782045987 0.00005
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met) rs782413424 0.00005
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) rs781804858 0.00005
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met) rs782354655 0.00005
NM_005391.5(PDK3):c.506-6G>A rs376450754 0.00005
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=) rs138952430 0.00005
NM_014271.4(IL1RAPL1):c.-25+14A>C rs146138116 0.00005
NM_031206.7(LAS1L):c.1269C>T (p.Thr423=) rs188766357 0.00005
NM_139058.3(ARX):c.223T>G (p.Phe75Val) rs999545482 0.00005
NM_000033.4(ABCD1):c.600C>T (p.Asp200=) rs782724538 0.00004
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_000117.3(EMD):c.581C>T (p.Ser194Leu) rs782697057 0.00004
NM_000252.3(MTM1):c.1196G>A (p.Ser399Asn) rs782295697 0.00004
NM_000252.3(MTM1):c.1695C>T (p.Asp565=) rs140744506 0.00004
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338 0.00004
NM_000252.3(MTM1):c.710C>T (p.Thr237Met) rs375590163 0.00004
NM_000252.3(MTM1):c.868-9G>T rs782148583 0.00004
NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp) rs200079698 0.00004
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_000489.6(ATRX):c.1041T>G (p.Ile347Met) rs199780997 0.00004
NM_000489.6(ATRX):c.1047C>G (p.Pro349=) rs200288042 0.00004
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala) rs587780284 0.00004
NM_000489.6(ATRX):c.1448A>C (p.Gln483Pro) rs781820428 0.00004
NM_000489.6(ATRX):c.1679C>G (p.Ser560Cys) rs782446684 0.00004
NM_000489.6(ATRX):c.2114A>G (p.Asp705Gly) rs781804632 0.00004
NM_000489.6(ATRX):c.2117G>C (p.Ser706Thr) rs782171296 0.00004
NM_000489.6(ATRX):c.2224A>G (p.Ser742Gly) rs368980616 0.00004
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln) rs782181535 0.00004
NM_000489.6(ATRX):c.2573A>G (p.Lys858Arg) rs782593341 0.00004
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp) rs782123222 0.00004
NM_000489.6(ATRX):c.2764G>A (p.Asp922Asn) rs373581602 0.00004
NM_000489.6(ATRX):c.2869G>C (p.Val957Leu) rs1557138704 0.00004
NM_000489.6(ATRX):c.2922C>T (p.Ser974=) rs1476227727 0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000489.6(ATRX):c.3207G>A (p.Gly1069=) rs782472957 0.00004
NM_000489.6(ATRX):c.3737-6C>T rs373071937 0.00004
NM_000489.6(ATRX):c.4134T>G (p.Asp1378Glu) rs782302000 0.00004
NM_000489.6(ATRX):c.4214+17T>C rs782525895 0.00004
NM_000489.6(ATRX):c.4557+15T>C rs782672265 0.00004
NM_000489.6(ATRX):c.5272+16T>C rs377679337 0.00004
NM_000489.6(ATRX):c.5448+20T>G rs782183661 0.00004
NM_000489.6(ATRX):c.5567-18C>T rs782747817 0.00004
NM_000489.6(ATRX):c.5956+16G>A rs782016890 0.00004
NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=) rs782527659 0.00004
NM_001110556.2(FLNA):c.1092C>T (p.His364=) rs782530005 0.00004
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys) rs782673341 0.00004
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735 0.00004
NM_001110556.2(FLNA):c.1749C>T (p.Gly583=) rs782155641 0.00004
NM_001110556.2(FLNA):c.1854G>C (p.Gln618His) rs782495413 0.00004
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602 0.00004
NM_001110556.2(FLNA):c.2023-6C>T rs372021340 0.00004
NM_001110556.2(FLNA):c.2479A>G (p.Ile827Val) rs371361696 0.00004
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg) rs781988041 0.00004
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) rs373908435 0.00004
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=) rs781917512 0.00004
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283 0.00004
NM_001110556.2(FLNA):c.4981G>A (p.Gly1661Ser) rs1402204338 0.00004
NM_001110556.2(FLNA):c.5218-4G>A rs370196495 0.00004
NM_001110556.2(FLNA):c.5870C>G (p.Ser1957Cys) rs781962741 0.00004
NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys) rs782779958 0.00004
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser) rs200200745 0.00004
NM_001110556.2(FLNA):c.63C>T (p.Val21=) rs782306951 0.00004
NM_001110556.2(FLNA):c.720+9G>A rs781887001 0.00004
NM_001111125.3(IQSEC2):c.1401+7A>G rs782164403 0.00004
NM_001111125.3(IQSEC2):c.18G>A (p.Gly6=) rs781828922 0.00004
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206 0.00004
NM_001111125.3(IQSEC2):c.2451C>T (p.Asp817=) rs782668223 0.00004
NM_001111125.3(IQSEC2):c.2937C>T (p.Tyr979=) rs191305900 0.00004
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00004
NM_001111125.3(IQSEC2):c.3502-19C>T rs782166410 0.00004
NM_001159699.2(FHL1):c.380-16T>C rs772665517 0.00004
NM_001159699.2(FHL1):c.737-5C>A rs771803774 0.00004
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) rs201842753 0.00004
NM_001353921.2(ARHGEF9):c.555C>T (p.Ser185=) rs782520132 0.00004
NM_001399.5(EDA):c.469A>G (p.Asn157Asp) rs374824991 0.00004
NM_004586.3(RPS6KA3):c.846-6A>G rs375177835 0.00004
NM_005120.3(MED12):c.1348+18G>A rs776024292 0.00004
NM_005120.3(MED12):c.1975-5C>T rs200891932 0.00004
NM_005120.3(MED12):c.2571G>A (p.Thr857=) rs368090262 0.00004
NM_005120.3(MED12):c.4863+15C>T rs778076528 0.00004
NM_005120.3(MED12):c.5190G>C (p.Leu1730=) rs753355369 0.00004
NM_005120.3(MED12):c.5775A>G (p.Ser1925=) rs376753995 0.00004
NM_005120.3(MED12):c.6112G>A (p.Val2038Ile) rs762612521 0.00004
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) rs782501125 0.00004
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) rs782410390 0.00004
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=) rs782064674 0.00004
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=) rs782369645 0.00004
NM_005334.3(HCFC1):c.6004+14G>A rs371228352 0.00004
NM_016032.4(ZDHHC9):c.369G>A (p.Pro123=) rs763192908 0.00004
NM_016032.4(ZDHHC9):c.674+20T>C rs45555436 0.00004
NM_031206.7(LAS1L):c.1185G>A (p.Thr395=) rs373278066 0.00004
NM_080632.3(UPF3B):c.807+19T>C rs750984351 0.00004
NM_139058.3(ARX):c.99G>A (p.Leu33=) rs756804509 0.00004
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=) rs201740830 0.00003
NM_000033.4(ABCD1):c.1068C>T (p.Gly356=) rs782548310 0.00003
NM_000033.4(ABCD1):c.1456G>A (p.Gly486Arg) rs782242003 0.00003
NM_000033.4(ABCD1):c.1489-13G>T rs782622708 0.00003
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile) rs782720024 0.00003
NM_000033.4(ABCD1):c.476C>G (p.Ala159Gly) rs781871257 0.00003
NM_000033.4(ABCD1):c.768C>T (p.Asn256=) rs782236148 0.00003
NM_000033.4(ABCD1):c.90C>T (p.His30=) rs782195097 0.00003
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_000074.3(CD40LG):c.204G>A (p.Thr68=) rs775209130 0.00003
NM_000074.3(CD40LG):c.6C>T (p.Ile2=) rs767236871 0.00003
NM_000117.3(EMD):c.400-20G>A rs782354948 0.00003
NM_000132.4(F8):c.*1416G>T rs186338743 0.00003
NM_000252.3(MTM1):c.1209C>T (p.Phe403=) rs782407568 0.00003
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) rs782274835 0.00003
NM_000252.3(MTM1):c.55A>C (p.Ile19Leu) rs1408923946 0.00003
NM_000252.3(MTM1):c.999A>G (p.Glu333=) rs782302438 0.00003
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp) rs199974771 0.00003
NM_000377.3(WAS):c.133-18C>T rs782578064 0.00003
NM_000377.3(WAS):c.463+14A>C rs1338084492 0.00003
NM_000377.3(WAS):c.912G>A (p.Arg304=) rs782572275 0.00003
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_000489.6(ATRX):c.2009C>T (p.Thr670Ile) rs781797239 0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr) rs1340328179 0.00003
NM_000489.6(ATRX):c.227C>T (p.Ser76Leu) rs782664370 0.00003
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_000489.6(ATRX):c.2581G>A (p.Asp861Asn) rs782629714 0.00003
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met) rs782757975 0.00003
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745 0.00003
NM_000489.6(ATRX):c.3888A>G (p.Pro1296=) rs139540415 0.00003
NM_000489.6(ATRX):c.4207A>G (p.Arg1403Gly) rs782464685 0.00003
NM_000489.6(ATRX):c.4557+19C>T rs781857296 0.00003
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=) rs781845474 0.00003
NM_000489.6(ATRX):c.5786+20G>A rs782150691 0.00003
NM_000489.6(ATRX):c.595-17C>G rs782473887 0.00003
NM_000489.6(ATRX):c.6024T>C (p.Asp2008=) rs782159753 0.00003
NM_000489.6(ATRX):c.7011A>G (p.Glu2337=) rs782078102 0.00003
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=) rs782703242 0.00003
NM_001032382.2(PQBP1):c.*3C>T rs781944808 0.00003
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=) rs751833365 0.00003
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.1110C>T (p.Phe370=) rs886044869 0.00003
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=) rs782598234 0.00003
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys) rs367639317 0.00003
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) rs781915319 0.00003
NM_001110556.2(FLNA):c.1386C>T (p.Gly462=) rs781977506 0.00003
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195 0.00003
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser) rs782580317 0.00003
NM_001110556.2(FLNA):c.1713C>T (p.Gly571=) rs782122510 0.00003
NM_001110556.2(FLNA):c.1798G>C (p.Glu600Gln) rs781861830 0.00003
NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr) rs782158357 0.00003
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919 0.00003
NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu) rs782140888 0.00003
NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn) rs375495397 0.00003
NM_001110556.2(FLNA):c.2993C>T (p.Ala998Val) rs782099443 0.00003
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His) rs782758177 0.00003
NM_001110556.2(FLNA):c.3173C>T (p.Pro1058Leu) rs782614645 0.00003
NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn) rs782561908 0.00003
NM_001110556.2(FLNA):c.3309G>A (p.Thr1103=) rs782374592 0.00003
NM_001110556.2(FLNA):c.3367T>G (p.Ser1123Ala) rs368441729 0.00003
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395 0.00003
NM_001110556.2(FLNA):c.3935G>A (p.Arg1312His) rs377505188 0.00003
NM_001110556.2(FLNA):c.3947T>C (p.Met1316Thr) rs782610314 0.00003
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) rs782746289 0.00003
NM_001110556.2(FLNA):c.4260C>T (p.Gly1420=) rs782653215 0.00003
NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala) rs781972123 0.00003
NM_001110556.2(FLNA):c.4579G>A (p.Asp1527Asn) rs782537273 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.4786A>G (p.Ile1596Val) rs781870374 0.00003
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala) rs782469665 0.00003
NM_001110556.2(FLNA):c.5139G>A (p.Thr1713=) rs782460018 0.00003
NM_001110556.2(FLNA):c.5426G>A (p.Arg1809Gln) rs782134110 0.00003
NM_001110556.2(FLNA):c.5587G>A (p.Val1863Ile) rs781809353 0.00003
NM_001110556.2(FLNA):c.5827G>A (p.Val1943Ile) rs373682131 0.00003
NM_001110556.2(FLNA):c.5958T>C (p.Thr1986=) rs782787843 0.00003
NM_001110556.2(FLNA):c.5977C>T (p.Arg1993Trp) rs371616686 0.00003
NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp) rs782160183 0.00003
NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=) rs782221205 0.00003
NM_001110556.2(FLNA):c.6380-17G>A rs200764111 0.00003
NM_001110556.2(FLNA):c.6446G>A (p.Arg2149Gln) rs201932105 0.00003
NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile) rs367655833 0.00003
NM_001110556.2(FLNA):c.6602G>A (p.Arg2201His) rs368547421 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) rs797044739 0.00003
NM_001110556.2(FLNA):c.6997C>T (p.Arg2333Cys) rs781984348 0.00003
NM_001110556.2(FLNA):c.7350C>T (p.Phe2450=) rs782225826 0.00003
NM_001110556.2(FLNA):c.7553-10T>C rs782156724 0.00003
NM_001110556.2(FLNA):c.759C>T (p.Asp253=) rs782701643 0.00003
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp) rs781864075 0.00003
NM_001111125.3(IQSEC2):c.1176C>T (p.Phe392=) rs374511542 0.00003
NM_001111125.3(IQSEC2):c.1866G>A (p.Glu622=) rs782547252 0.00003
NM_001111125.3(IQSEC2):c.248C>T (p.Pro83Leu) rs1057518272 0.00003
NM_001111125.3(IQSEC2):c.2847C>T (p.Ser949=) rs377545286 0.00003
NM_001111125.3(IQSEC2):c.3159G>A (p.Gly1053=) rs199643273 0.00003
NM_001111125.3(IQSEC2):c.3592G>A (p.Val1198Ile) rs1193003776 0.00003
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=) rs797045629 0.00003
NM_001167.4(XIAP):c.1057-7G>A rs753427928 0.00003
NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala) rs377097035 0.00003
NM_001167.4(XIAP):c.1196T>G (p.Ile399Arg) rs753415949 0.00003
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=) rs782187939 0.00003
NM_001399.5(EDA):c.1014G>A (p.Thr338=) rs750674219 0.00003
NM_001399.5(EDA):c.1098C>T (p.His366=) rs1322090620 0.00003
NM_001399.5(EDA):c.1124A>G (p.Lys375Arg) rs750739438 0.00003
NM_001399.5(EDA):c.277C>T (p.Leu93Phe) rs746479442 0.00003
NM_002351.5(SH2D1A):c.*257A>T rs556331824 0.00003
NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=) rs773807871 0.00003
NM_004586.3(RPS6KA3):c.987G>A (p.Thr329=) rs750203223 0.00003
NM_005120.3(MED12):c.1794G>A (p.Leu598=) rs776762599 0.00003
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.2484T>C (p.Asp828=) rs781733323 0.00003
NM_005120.3(MED12):c.2748C>A (p.Gly916=) rs768686458 0.00003
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00003
NM_005120.3(MED12):c.3012C>T (p.Ile1004=) rs775829185 0.00003
NM_005120.3(MED12):c.3381G>T (p.Ser1127=) rs369946933 0.00003
NM_005120.3(MED12):c.5316G>A (p.Pro1772=) rs398124199 0.00003
NM_005120.3(MED12):c.5836C>T (p.Pro1946Ser) rs1195178209 0.00003
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=) rs201491358 0.00003
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His) rs111385795 0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) rs782368009 0.00003
NM_005334.3(HCFC1):c.5379+20G>A rs371712410 0.00003
NM_005391.5(PDK3):c.204G>A (p.Pro68=) rs201536570 0.00003
NM_016032.4(ZDHHC9):c.1014G>A (p.Pro338=) rs774643586 0.00003
NM_016032.4(ZDHHC9):c.1032C>T (p.Pro344=) rs755391148 0.00003
NM_016032.4(ZDHHC9):c.167+9C>T rs746318308 0.00003
NM_031206.7(LAS1L):c.707C>T (p.Thr236Met) rs145338657 0.00003
NM_080632.3(UPF3B):c.105G>A (p.Lys35=) rs143487370 0.00003
NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile) rs201833722 0.00003
NM_080632.3(UPF3B):c.883T>C (p.Leu295=) rs755087452 0.00003
NM_144499.3(GNAT1):c.294C>T (p.Asp98=) rs374784713 0.00003
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg) rs758646032 0.00002
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=) rs782095899 0.00002
NM_000033.4(ABCD1):c.1201C>A (p.Arg401=) rs727503786 0.00002
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr) rs782647014 0.00002
NM_000033.4(ABCD1):c.901-4G>A rs782306934 0.00002
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_000117.3(EMD):c.618C>T (p.Ile206=) rs782496874 0.00002
NM_000252.3(MTM1):c.1188C>T (p.Phe396=) rs370366538 0.00002
NM_000252.3(MTM1):c.1645-8C>T rs782348896 0.00002
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val) rs587783807 0.00002
NM_000252.3(MTM1):c.297G>A (p.Ala99=) rs781784303 0.00002
NM_000252.3(MTM1):c.741C>T (p.Val247=) rs374360983 0.00002
NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn) rs539768252 0.00002
NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met) rs369980987 0.00002
NM_000377.3(WAS):c.16A>G (p.Met6Val) rs782730988 0.00002
NM_000377.3(WAS):c.249C>T (p.Tyr83=) rs368151220 0.00002
NM_000377.3(WAS):c.999G>A (p.Gly333=) rs369654974 0.00002
NM_000444.6(PHEX):c.*305G>A rs189715720 0.00002
NM_000489.6(ATRX):c.114T>G (p.Leu38=) rs201353033 0.00002
NM_000489.6(ATRX):c.1257G>A (p.Ala419=) rs185550133 0.00002
NM_000489.6(ATRX):c.1441G>C (p.Glu481Gln) rs782128777 0.00002
NM_000489.6(ATRX):c.1446A>C (p.Glu482Asp) rs886044778 0.00002
NM_000489.6(ATRX):c.1666G>A (p.Val556Met) rs782001042 0.00002
NM_000489.6(ATRX):c.2087G>C (p.Arg696Thr) rs781967738 0.00002
NM_000489.6(ATRX):c.2174T>C (p.Val725Ala) rs960922907 0.00002
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser) rs782196312 0.00002
NM_000489.6(ATRX):c.2728A>G (p.Lys910Glu) rs782016225 0.00002
NM_000489.6(ATRX):c.3459A>G (p.Ser1153=) rs782427169 0.00002
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val) rs782062542 0.00002
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser) rs201588422 0.00002
NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser) rs782293614 0.00002
NM_000489.6(ATRX):c.3962A>G (p.Asn1321Ser) rs1440336962 0.00002
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560 0.00002
NM_000489.6(ATRX):c.4699+9C>T rs782140505 0.00002
NM_000489.6(ATRX):c.4866G>A (p.Ala1622=) rs145036475 0.00002
NM_000489.6(ATRX):c.5184A>G (p.Ala1728=) rs782211965 0.00002
NM_000489.6(ATRX):c.5493C>T (p.His1831=) rs782508028 0.00002
NM_000489.6(ATRX):c.6327-18C>T rs372246179 0.00002
NM_000489.6(ATRX):c.6924T>C (p.Tyr2308=) rs139457986 0.00002
NM_000489.6(ATRX):c.7083C>T (p.Asn2361=) rs3027525 0.00002
NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr) rs147341551 0.00002
NM_000489.6(ATRX):c.7200+15G>A rs372742045 0.00002
NM_000489.6(ATRX):c.7229T>C (p.Met2410Thr) rs782388992 0.00002
NM_001110556.2(FLNA):c.1180A>G (p.Ser394Gly) rs371936356 0.00002
NM_001110556.2(FLNA):c.1224G>A (p.Thr408=) rs1221446175 0.00002
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp) rs863223644 0.00002
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr) rs782698277 0.00002
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn) rs782321294 0.00002
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val) rs1443563081 0.00002
NM_001110556.2(FLNA):c.1767C>T (p.Gly589=) rs371909600 0.00002
NM_001110556.2(FLNA):c.1824G>A (p.Thr608=) rs782114616 0.00002
NM_001110556.2(FLNA):c.1938C>T (p.His646=) rs369037499 0.00002
NM_001110556.2(FLNA):c.1954G>A (p.Glu652Lys) rs782043699 0.00002
NM_001110556.2(FLNA):c.2032C>T (p.Arg678Cys) rs1380007907 0.00002
NM_001110556.2(FLNA):c.2065G>A (p.Val689Ile) rs782116160 0.00002
NM_001110556.2(FLNA):c.2219C>T (p.Pro740Leu) rs782278974 0.00002
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00002
NM_001110556.2(FLNA):c.2661C>T (p.Val887=) rs781794634 0.00002
NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys) rs782580568 0.00002
NM_001110556.2(FLNA):c.2953G>A (p.Val985Ile) rs781884864 0.00002
NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe) rs1557177797 0.00002
NM_001110556.2(FLNA):c.3369C>T (p.Ser1123=) rs782475258 0.00002
NM_001110556.2(FLNA):c.3546A>G (p.Gln1182=) rs782119340 0.00002
NM_001110556.2(FLNA):c.3755C>T (p.Ala1252Val) rs782538253 0.00002
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) rs1557177584 0.00002
NM_001110556.2(FLNA):c.4044C>T (p.Pro1348=) rs782525345 0.00002
NM_001110556.2(FLNA):c.4051G>A (p.Glu1351Lys) rs782269355 0.00002
NM_001110556.2(FLNA):c.4158C>T (p.Gly1386=) rs781868130 0.00002
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236 0.00002
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys) rs1400230946 0.00002
NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met) rs782352193 0.00002
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) rs782152127 0.00002
NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val) rs12395634 0.00002
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233 0.00002
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=) rs781929535 0.00002
NM_001110556.2(FLNA):c.5965C>T (p.Pro1989Ser) rs1557176194 0.00002
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln) rs1483960506 0.00002
NM_001110556.2(FLNA):c.6125C>T (p.Ser2042Leu) rs782666380 0.00002
NM_001110556.2(FLNA):c.6503-9A>G rs781919390 0.00002
NM_001110556.2(FLNA):c.652G>A (p.Ala218Thr) rs782580503 0.00002
NM_001110556.2(FLNA):c.6908-14C>G rs782486602 0.00002
NM_001110556.2(FLNA):c.7322G>A (p.Gly2441Asp) rs1281469151 0.00002
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) rs782244918 0.00002
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His) rs781959191 0.00002
NM_001110556.2(FLNA):c.7650G>A (p.Pro2550=) rs781905890 0.00002
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile) rs782291033 0.00002
NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn) rs782593788 0.00002
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg) rs782302420 0.00002
NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His) rs782641074 0.00002
NM_001111125.3(IQSEC2):c.1498G>C (p.Glu500Gln) rs202076203 0.00002
NM_001111125.3(IQSEC2):c.2088C>T (p.Asn696=) rs1405711349 0.00002
NM_001111125.3(IQSEC2):c.2174C>T (p.Pro725Leu) rs782745696 0.00002
NM_001111125.3(IQSEC2):c.2175G>A (p.Pro725=) rs781979737 0.00002
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln) rs192071369 0.00002
NM_001111125.3(IQSEC2):c.2334G>A (p.Arg778=) rs782564038 0.00002
NM_001111125.3(IQSEC2):c.2355G>A (p.Pro785=) rs1327209801 0.00002
NM_001111125.3(IQSEC2):c.2811G>A (p.Gln937=) rs781835138 0.00002
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser) rs781808414 0.00002
NM_001111125.3(IQSEC2):c.3278-13G>C rs782674949 0.00002
NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=) rs374220843 0.00002
NM_001111125.3(IQSEC2):c.3668C>T (p.Pro1223Leu) rs1161354303 0.00002
NM_001111125.3(IQSEC2):c.3730C>T (p.His1244Tyr) rs1290683569 0.00002
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964 0.00002
NM_001111125.3(IQSEC2):c.4418C>T (p.Pro1473Leu) rs1556858927 0.00002
NM_001167.4(XIAP):c.*5010A>G rs770776017 0.00002
NM_001167.4(XIAP):c.1300+7A>G rs749438405 0.00002
NM_001256789.3(CACNA1F):c.5504G>A (p.Arg1835Gln) rs782177944 0.00002
NM_001257291.2(SLC9A7):c.1059A>G (p.Lys353=) rs750488234 0.00002
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=) rs782666474 0.00002
NM_001399.5(EDA):c.1083C>T (p.Ala361=) rs780464771 0.00002
NM_001399.5(EDA):c.132G>C (p.Leu44=) rs760109372 0.00002
NM_002764.4(PRPS1):c.*178G>A rs576933222 0.00002
NM_004586.3(RPS6KA3):c.1086T>C (p.Thr362=) rs778140223 0.00002
NM_005120.3(MED12):c.1031C>A (p.Thr344Asn) rs773615925 0.00002
NM_005120.3(MED12):c.1170C>T (p.Thr390=) rs772236514 0.00002
NM_005120.3(MED12):c.1332C>T (p.Cys444=) rs746205041 0.00002
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys) rs764981858 0.00002
NM_005120.3(MED12):c.2202C>T (p.Tyr734=) rs1366328614 0.00002
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr) rs199860580 0.00002
NM_005120.3(MED12):c.2686-15C>T rs200842589 0.00002
NM_005120.3(MED12):c.3355-16C>G rs201933970 0.00002
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461 0.00002
NM_005120.3(MED12):c.380C>T (p.Thr127Met) rs775072642 0.00002
NM_005120.3(MED12):c.4077T>G (p.Ser1359=) rs902073429 0.00002
NM_005120.3(MED12):c.4161C>T (p.Ile1387=) rs776947543 0.00002
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414 0.00002
NM_005120.3(MED12):c.4253+16G>A rs185066241 0.00002
NM_005120.3(MED12):c.4299T>C (p.Ala1433=) rs763359998 0.00002
NM_005120.3(MED12):c.4380T>C (p.Ser1460=) rs377119772 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.4863+16G>A rs745396813 0.00002
NM_005120.3(MED12):c.5561G>A (p.Arg1854His) rs759125296 0.00002
NM_005120.3(MED12):c.981G>A (p.Thr327=) rs769757456 0.00002
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=) rs398124206 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) rs371411952 0.00002
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=) rs782332238 0.00002
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) rs782707963 0.00002
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met) rs781961897 0.00002
NM_005334.3(HCFC1):c.4497+4A>G rs782206577 0.00002
NM_005334.3(HCFC1):c.5261-17A>G rs782143370 0.00002
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=) rs782063013 0.00002
NM_005391.5(PDK3):c.1077+8G>A rs370736936 0.00002
NM_005391.5(PDK3):c.1149G>A (p.Thr383=) rs768286680 0.00002
NM_005391.5(PDK3):c.674-3C>T rs777647536 0.00002
NM_016032.4(ZDHHC9):c.674+11C>T rs370687569 0.00002
NM_021120.4(DLG3):c.1280G>A (p.Arg427His) rs775293712 0.00002
NM_031206.7(LAS1L):c.1927+9del rs774312008 0.00002
NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val) rs104886155 0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) rs147945173 0.00002
NM_139058.3(ARX):c.1524G>A (p.Val508=) rs1056460685 0.00002
NM_139058.3(ARX):c.300G>A (p.Ala100=) rs797045294 0.00002
NM_139058.3(ARX):c.361C>A (p.Pro121Thr) rs1308958274 0.00002
NM_153252.5(BRWD3):c.3939G>A (p.Leu1313=) rs765601278 0.00002
NM_153252.5(BRWD3):c.957C>A (p.Val319=) rs746783547 0.00002
NM_000033.4(ABCD1):c.1182G>A (p.Ala394=) rs782515233 0.00001
NM_000033.4(ABCD1):c.1391G>A (p.Arg464Gln) rs138902450 0.00001
NM_000033.4(ABCD1):c.1443C>T (p.Ile481=) rs782704819 0.00001
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330 0.00001
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000033.4(ABCD1):c.225C>T (p.Leu75=) rs781883009 0.00001
NM_000033.4(ABCD1):c.729C>G (p.Pro243=) rs1557052503 0.00001
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_000054.7(AVPR2):c.416G>A (p.Arg139His) rs782096959 0.00001
NM_000074.3(CD40LG):c.156+17G>A rs755782893 0.00001
NM_000074.3(CD40LG):c.315G>A (p.Thr105=) rs778398894 0.00001
NM_000074.3(CD40LG):c.409+17C>T rs1195970071 0.00001
NM_000132.4(F8):c.6849C>T (p.Ser2283=) rs1319284046 0.00001
NM_000132.4(F8):c.989A>G (p.His330Arg) rs782498015 0.00001
NM_000240.4(MAOA):c.816G>A (p.Ala272=) rs751223564 0.00001
NM_000252.3(MTM1):c.1080A>G (p.Val360=) rs782202285 0.00001
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741 0.00001
NM_000252.3(MTM1):c.1261-6A>G rs781856399 0.00001
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) rs374725419 0.00001
NM_000252.3(MTM1):c.1454C>T (p.Ala485Val) rs782137551 0.00001
NM_000252.3(MTM1):c.1468-10C>T rs782174623 0.00001
NM_000252.3(MTM1):c.258T>C (p.Pro86=) rs782702345 0.00001
NM_000252.3(MTM1):c.539A>G (p.Asn180Ser) rs781995404 0.00001
NM_000252.3(MTM1):c.783C>T (p.Leu261=) rs187394611 0.00001
NM_000283.4(PDE6B):c.*21C>T rs371005251 0.00001
NM_000283.4(PDE6B):c.1590C>T (p.Val530=) rs202244041 0.00001
NM_000283.4(PDE6B):c.1945A>G (p.Asn649Asp) rs768939011 0.00001
NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr) rs779474710 0.00001
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn) rs574098823 0.00001
NM_000377.3(WAS):c.184G>C (p.Glu62Gln) rs141605347 0.00001
NM_000377.3(WAS):c.327C>G (p.Thr109=) rs1288545461 0.00001
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=) rs572970359 0.00001
NM_000489.6(ATRX):c.1042G>T (p.Val348Leu) rs1557142408 0.00001
NM_000489.6(ATRX):c.1439C>T (p.Thr480Ile) rs782751824 0.00001
NM_000489.6(ATRX):c.177C>T (p.Asn59=) rs782250182 0.00001
NM_000489.6(ATRX):c.2480G>A (p.Ser827Asn) rs897147546 0.00001
NM_000489.6(ATRX):c.2494G>A (p.Gly832Ser) rs1557139497 0.00001
NM_000489.6(ATRX):c.2597A>C (p.Lys866Thr) rs782057275 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln) rs782374254 0.00001
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431 0.00001
NM_000489.6(ATRX):c.3103A>G (p.Ile1035Val) rs781916347 0.00001
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=) rs782279780 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 0.00001
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val) rs782554626 0.00001
NM_000489.6(ATRX):c.3687G>A (p.Val1229=) rs1051682 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000489.6(ATRX):c.4647A>G (p.Leu1549=) rs782303976 0.00001
NM_000489.6(ATRX):c.4767A>T (p.Gly1589=) rs782707742 0.00001
NM_000489.6(ATRX):c.4858A>C (p.Ser1620Arg) rs782115900 0.00001
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile) rs1045875195 0.00001
NM_000489.6(ATRX):c.5273-19A>G rs1278007263 0.00001
NM_000489.6(ATRX):c.5566+14C>T rs1003519094 0.00001
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg) rs1569528833 0.00001
NM_000489.6(ATRX):c.6132C>T (p.Leu2044=) rs1557079262 0.00001
NM_000489.6(ATRX):c.672G>A (p.Ala224=) rs782223625 0.00001
NM_000489.6(ATRX):c.7072-3T>C rs782686541 0.00001
NM_000489.6(ATRX):c.7401G>A (p.Met2467Ile) rs782416494 0.00001
NM_000489.6(ATRX):c.917A>G (p.Asn306Ser) rs782367711 0.00001
NM_001011658.4(TRAPPC2):c.*1634G>T rs187464655 0.00001
NM_001015877.2(PHF6):c.240+10T>C rs750243844 0.00001
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=) rs143156492 0.00001
NM_001079872.2(CUL4B):c.2266+4T>A rs747816205 0.00001
NM_001110556.2(FLNA):c.1009G>A (p.Asp337Asn) rs782696220 0.00001
NM_001110556.2(FLNA):c.1288G>A (p.Val430Ile) rs1557179208 0.00001
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) rs782791907 0.00001
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp) rs1557179125 0.00001
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634 0.00001
NM_001110556.2(FLNA):c.1455G>A (p.Ala485=) rs782650242 0.00001
NM_001110556.2(FLNA):c.1568-19G>A rs782606152 0.00001
NM_001110556.2(FLNA):c.1654G>A (p.Val552Ile) rs863223619 0.00001
NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg) rs781806203 0.00001
NM_001110556.2(FLNA):c.1686G>A (p.Gly562=) rs782730676 0.00001
NM_001110556.2(FLNA):c.1692-10G>A rs199740539 0.00001
NM_001110556.2(FLNA):c.1717G>A (p.Glu573Lys) rs1399359867 0.00001
NM_001110556.2(FLNA):c.17C>T (p.Ser6Phe) rs782780394 0.00001
NM_001110556.2(FLNA):c.1873G>A (p.Asp625Asn) rs1557178769 0.00001
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) rs137853311 0.00001
NM_001110556.2(FLNA):c.2104G>A (p.Gly702Ser) rs781988346 0.00001
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp) rs782287086 0.00001
NM_001110556.2(FLNA):c.2206G>A (p.Val736Met) rs1409855324 0.00001
NM_001110556.2(FLNA):c.2221G>A (p.Val741Met) rs782439081 0.00001
NM_001110556.2(FLNA):c.2361C>G (p.His787Gln) rs863223620 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2452G>A (p.Ala818Thr) rs782591945 0.00001
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) rs1557178278 0.00001
NM_001110556.2(FLNA):c.2473G>A (p.Asp825Asn) rs782555729 0.00001
NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp) rs782772998 0.00001
NM_001110556.2(FLNA):c.2527G>A (p.Ala843Thr) rs782402900 0.00001
NM_001110556.2(FLNA):c.2762G>A (p.Arg921Gln) rs782334371 0.00001
NM_001110556.2(FLNA):c.2783A>G (p.His928Arg) rs1209463656 0.00001
NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp) rs190437842 0.00001
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu) rs782451202 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.3023T>C (p.Ile1008Thr) rs1557178033 0.00001
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269 0.00001
NM_001110556.2(FLNA):c.3283G>A (p.Ala1095Thr) rs781864297 0.00001
NM_001110556.2(FLNA):c.3370G>A (p.Val1124Met) rs781842942 0.00001
NM_001110556.2(FLNA):c.3412A>G (p.Ile1138Val) rs782318545 0.00001
NM_001110556.2(FLNA):c.3420C>T (p.Phe1140=) rs782219300 0.00001
NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met) rs1557177750 0.00001
NM_001110556.2(FLNA):c.3592T>C (p.Cys1198Arg) rs781924230 0.00001
NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val) rs201810442 0.00001
NM_001110556.2(FLNA):c.3618G>A (p.Glu1206=) rs1557177714 0.00001
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277 0.00001
NM_001110556.2(FLNA):c.4076G>A (p.Arg1359His) rs1557177520 0.00001
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg) rs782774182 0.00001
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val) rs781976719 0.00001
NM_001110556.2(FLNA):c.4276G>A (p.Val1426Ile) rs782073521 0.00001
NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser) rs781855364 0.00001
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu) rs372729831 0.00001
NM_001110556.2(FLNA):c.4803C>T (p.Asp1601=) rs1557177102 0.00001
NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr) rs863223639 0.00001
NM_001110556.2(FLNA):c.5054C>T (p.Thr1685Met) rs781783107 0.00001
NM_001110556.2(FLNA):c.5095G>A (p.Asp1699Asn) rs782048198 0.00001
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met) rs782351877 0.00001
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_001110556.2(FLNA):c.5161G>A (p.Val1721Ile) rs187497365 0.00001
NM_001110556.2(FLNA):c.5240C>T (p.Ser1747Leu) rs1557176526 0.00001
NM_001110556.2(FLNA):c.5281T>C (p.Tyr1761His) rs1293701269 0.00001
NM_001110556.2(FLNA):c.5299G>A (p.Gly1767Ser) rs1557176498 0.00001
NM_001110556.2(FLNA):c.5319G>A (p.Pro1773=) rs782127738 0.00001
NM_001110556.2(FLNA):c.5476G>A (p.Gly1826Ser) rs782269425 0.00001
NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met) rs782448596 0.00001
NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys) rs782307604 0.00001
NM_001110556.2(FLNA):c.5537A>G (p.Tyr1846Cys) rs782771039 0.00001
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) rs782095418 0.00001
NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn) rs930325486 0.00001
NM_001110556.2(FLNA):c.587G>A (p.Arg196Gln) rs1569551872 0.00001
NM_001110556.2(FLNA):c.5908G>A (p.Asp1970Asn) rs1304255474 0.00001
NM_001110556.2(FLNA):c.5966C>T (p.Pro1989Leu) rs992772682 0.00001
NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met) rs200956777 0.00001
NM_001110556.2(FLNA):c.6050G>A (p.Gly2017Glu) rs1557176160 0.00001
NM_001110556.2(FLNA):c.6140C>G (p.Ala2047Gly) rs781802209 0.00001
NM_001110556.2(FLNA):c.6209T>C (p.Ile2070Thr) rs782693894 0.00001
NM_001110556.2(FLNA):c.6286G>A (p.Asp2096Asn) rs781962577 0.00001
NM_001110556.2(FLNA):c.6297C>T (p.Asp2099=) rs377571943 0.00001
NM_001110556.2(FLNA):c.6373G>A (p.Val2125Met) rs1557176038 0.00001
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp) rs782761341 0.00001
NM_001110556.2(FLNA):c.6506T>C (p.Ile2169Thr) rs1222551110 0.00001
NM_001110556.2(FLNA):c.6601C>T (p.Arg2201Cys) rs782621818 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001110556.2(FLNA):c.6817A>G (p.Ile2273Val) rs1004772663 0.00001
NM_001110556.2(FLNA):c.6990C>T (p.Gly2330=) rs782377203 0.00001
NM_001110556.2(FLNA):c.7000C>T (p.Arg2334Cys) rs782689584 0.00001
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) rs781878646 0.00001
NM_001110556.2(FLNA):c.7051G>A (p.Ala2351Thr) rs1557175653 0.00001
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) rs1557175646 0.00001
NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=) rs782541746 0.00001
NM_001110556.2(FLNA):c.71G>T (p.Arg24Leu) rs1350949025 0.00001
NM_001110556.2(FLNA):c.7324G>A (p.Gly2442Ser) rs782189345 0.00001
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met) rs781788290 0.00001
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser) rs1557175387 0.00001
NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val) rs782563616 0.00001
NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg) rs782442409 0.00001
NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala) rs886039104 0.00001
NM_001110556.2(FLNA):c.7651G>C (p.Gly2551Arg) rs1557175285 0.00001
NM_001110556.2(FLNA):c.7710C>G (p.Ala2570=) rs782709737 0.00001
NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu) rs371600068 0.00001
NM_001110556.2(FLNA):c.969G>A (p.Pro323=) rs782178449 0.00001
NM_001110556.2(FLNA):c.972C>T (p.Ala324=) rs781806385 0.00001
NM_001110556.2(FLNA):c.973G>A (p.Gly325Arg) rs782724892 0.00001
NM_001111125.3(IQSEC2):c.1620G>A (p.Gln540=) rs376149648 0.00001
NM_001111125.3(IQSEC2):c.1656G>A (p.Pro552=) rs200411197 0.00001
NM_001111125.3(IQSEC2):c.1944C>T (p.Tyr648=) rs781942714 0.00001
NM_001111125.3(IQSEC2):c.2618G>A (p.Arg873His) rs370830356 0.00001
NM_001111125.3(IQSEC2):c.2627G>A (p.Arg876Gln) rs376739885 0.00001
NM_001111125.3(IQSEC2):c.3015+13T>G rs782124794 0.00001
NM_001111125.3(IQSEC2):c.3081C>T (p.Leu1027=) rs781862515 0.00001
NM_001111125.3(IQSEC2):c.3396C>T (p.Gly1132=) rs782725826 0.00001
NM_001111125.3(IQSEC2):c.385G>A (p.Val129Met) rs1347714754 0.00001
NM_001111125.3(IQSEC2):c.669C>T (p.Thr223=) rs782083256 0.00001
NM_001111125.3(IQSEC2):c.803C>G (p.Pro268Arg) rs368559547 0.00001
NM_001167.4(XIAP):c.*2944C>A rs776649984 0.00001
NM_001167.4(XIAP):c.*6566G>A rs770051891 0.00001
NM_001167.4(XIAP):c.1416A>G (p.Lys472=) rs777650841 0.00001
NM_001167.4(XIAP):c.308C>T (p.Thr103Met) rs749157868 0.00001
NM_001167.4(XIAP):c.915A>T (p.Gly305=) rs755919911 0.00001
NM_001330574.2(ZNF711):c.*47A>G rs755503652 0.00001
NM_001330574.2(ZNF711):c.2109C>T (p.Ser703=) rs150030676 0.00001
NM_001353921.2(ARHGEF9):c.1077+13C>G rs782189949 0.00001
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr) rs1421919089 0.00001
NM_001353921.2(ARHGEF9):c.31-16C>T rs782420279 0.00001
NM_001353921.2(ARHGEF9):c.403-19G>A rs782062229 0.00001
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) rs1384182085 0.00001
NM_001399.5(EDA):c.502+10C>T rs771904661 0.00001
NM_001399.5(EDA):c.879G>A (p.Leu293=) rs746437230 0.00001
NM_002351.5(SH2D1A):c.144C>T (p.His48=) rs765804146 0.00001
NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser) rs148554414 0.00001
NM_004586.3(RPS6KA3):c.48G>C (p.Glu16Asp) rs1327104134 0.00001
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929 0.00001
NM_005120.3(MED12):c.1485+5G>A rs1006276729 0.00001
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00001
NM_005120.3(MED12):c.205-20G>A rs780403920 0.00001
NM_005120.3(MED12):c.2194G>A (p.Val732Met) rs750304793 0.00001
NM_005120.3(MED12):c.2203G>A (p.Ala735Thr) rs756039521 0.00001
NM_005120.3(MED12):c.2265C>T (p.Val755=) rs750186446 0.00001
NM_005120.3(MED12):c.2280G>A (p.Val760=) rs753948557 0.00001
NM_005120.3(MED12):c.2422+16C>A rs774516868 0.00001
NM_005120.3(MED12):c.3609C>T (p.Cys1203=) rs751742488 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005120.3(MED12):c.4041T>C (p.Ile1347=) rs769884032 0.00001
NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser) rs1444442163 0.00001
NM_005120.3(MED12):c.5418G>A (p.Pro1806=) rs770957462 0.00001
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser) rs758621985 0.00001
NM_005120.3(MED12):c.5768G>T (p.Gly1923Val) rs1046757174 0.00001
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser) rs781638379 0.00001
NM_005120.3(MED12):c.6037A>C (p.Thr2013Pro) rs777453338 0.00001
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) rs782558280 0.00001
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=) rs782774910 0.00001
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) rs375223452 0.00001
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) rs782473277 0.00001
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=) rs782322654 0.00001
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile) rs371594842 0.00001
NM_005391.5(PDK3):c.51G>C (p.Glu17Asp) rs371137355 0.00001
NM_005391.5(PDK3):c.523G>A (p.Asp175Asn) rs149603823 0.00001
NM_005391.5(PDK3):c.671A>G (p.Asn224Ser) rs200598034 0.00001
NM_014271.4(IL1RAPL1):c.1089C>T (p.Gly363=) rs201215945 0.00001
NM_016032.4(ZDHHC9):c.487+17G>A rs572453121 0.00001
NM_016032.4(ZDHHC9):c.979-18A>G rs202246689 0.00001
NM_020717.5(SHROOM4):c.3942+48T>C rs781925536 0.00001
NM_031206.7(LAS1L):c.763C>T (p.His255Tyr) rs1367442721 0.00001
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg) rs372889859 0.00001
NM_033641.4(COL4A6):c.114C>T (p.Ser38=) rs377506539 0.00001
NM_080632.3(UPF3B):c.265T>C (p.Leu89=) rs761622396 0.00001
NM_139058.3(ARX):c.1521C>A (p.Ala507=) rs777179729 0.00001
NM_139058.3(ARX):c.738C>T (p.Asp246=) rs750465338 0.00001
NM_144499.3(GNAT1):c.*183C>G rs556104512 0.00001
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys) rs760790600
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) rs199826743
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_000033.4(ABCD1):c.1014G>A (p.Val338=)
NM_000033.4(ABCD1):c.1077G>A (p.Glu359=)
NM_000033.4(ABCD1):c.1082-19C>G rs374337788
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1098G>A (p.Lys366=)
NM_000033.4(ABCD1):c.1120G>A (p.Glu374Lys)
NM_000033.4(ABCD1):c.1126G>C (p.Glu376Gln)
NM_000033.4(ABCD1):c.1185T>C (p.Ala395=)
NM_000033.4(ABCD1):c.1299C>T (p.His433=)
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=) rs782419455
NM_000033.4(ABCD1):c.1366C>T (p.Arg456Cys)
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His) rs782159028
NM_000033.4(ABCD1):c.1394-18G>A
NM_000033.4(ABCD1):c.1394-19C>T
NM_000033.4(ABCD1):c.1489-24C>G rs149185761
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1634+13G>A
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.1781-7del
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.4(ABCD1):c.243G>C (p.Leu81=)
NM_000033.4(ABCD1):c.265C>T (p.Arg89Trp)
NM_000033.4(ABCD1):c.402G>A (p.Leu134=)
NM_000033.4(ABCD1):c.424C>G (p.Leu142Val)
NM_000033.4(ABCD1):c.475G>A (p.Ala159Thr)
NM_000033.4(ABCD1):c.615G>A (p.Ala205=) rs782601474
NM_000033.4(ABCD1):c.742G>A (p.Gly248Ser)
NM_000033.4(ABCD1):c.772C>T (p.Leu258=)
NM_000033.4(ABCD1):c.900+6dup
NM_000033.4(ABCD1):c.901-5del rs782805046
NM_000033.4(ABCD1):c.901-5dup
NM_000047.3(ARSL):c.-14GA[3] rs200332753
NM_000047.3(ARSL):c.1127-141GA[10] rs34095951
NM_000047.3(ARSL):c.992-219C>G rs211643
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_000074.3(CD40LG):c.191T>C (p.Val64Ala)
NM_000074.3(CD40LG):c.232T>C (p.Ser78Pro) rs200672738
NM_000074.3(CD40LG):c.288+20del rs758537361
NM_000074.3(CD40LG):c.388G>A (p.Ala130Thr)
NM_000074.3(CD40LG):c.542G>A (p.Arg181Gln) rs11575982
NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000074.3(CD40LG):c.589T>G (p.Ser197Ala)
NM_000074.3(CD40LG):c.642C>T (p.Ser214=)
NM_000074.3(CD40LG):c.698C>T (p.Pro233Leu)
NM_000117.3(EMD):c.177T>C (p.Tyr59=)
NM_000117.3(EMD):c.187+20G>A
NM_000117.3(EMD):c.266-9dup
NM_000117.3(EMD):c.400-13CT[2] rs1427015192
NM_000117.3(EMD):c.449+11G>C
NM_000117.3(EMD):c.620G>C (p.Arg207Pro) rs782352489
NM_000132.4(F8):c.1443+18T>G rs782583179
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.4(F8):c.5493C>G (p.Thr1831=) rs1603432997
NM_000240.4(MAOA):c.1165-18T>G
NM_000240.4(MAOA):c.1263-16C>G
NM_000240.4(MAOA):c.168+11_168+15del rs375984321
NM_000252.3(MTM1):c.1053+20dup
NM_000252.3(MTM1):c.1054-9_1054-6del rs782691958
NM_000252.3(MTM1):c.1261-20A>G
NM_000252.3(MTM1):c.1354-7del rs782326353
NM_000252.3(MTM1):c.137-11del
NM_000252.3(MTM1):c.1467+24del
NM_000252.3(MTM1):c.1467+24dup
NM_000252.3(MTM1):c.1468-21TC[2]
NM_000252.3(MTM1):c.1644+18G>A
NM_000252.3(MTM1):c.223T>C (p.Leu75=)
NM_000252.3(MTM1):c.232-12dup
NM_000252.3(MTM1):c.296C>T (p.Ala99Val)
NM_000252.3(MTM1):c.343-3dup rs2148461677
NM_000252.3(MTM1):c.363C>T (p.Phe121=)
NM_000252.3(MTM1):c.414G>A (p.Thr138=)
NM_000252.3(MTM1):c.445-12dup
NM_000252.3(MTM1):c.446C>G (p.Pro149Arg) rs2148485707
NM_000252.3(MTM1):c.529-9dup
NM_000252.3(MTM1):c.63+7del rs782222093
NM_000252.3(MTM1):c.913G>A (p.Glu305Lys) rs587783861
NM_000273.3(GPR143):c.767+10C>G rs3788938
NM_000283.4(PDE6B):c.2353-13C>T rs369466418
NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys) rs537263212
NM_000307.5(POU3F4):c.708= (p.Glu236=) rs5921978
NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=)
NM_000307.5(POU3F4):c.710= (p.Ala237=) rs5921979
NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del) rs193922412
NM_000377.3(WAS):c.1272C>T (p.Gly424=)
NM_000377.3(WAS):c.133-19C>G
NM_000377.3(WAS):c.1453+17G>A
NM_000377.3(WAS):c.1467C>T (p.Asp489=)
NM_000377.3(WAS):c.1506C>T (p.Asp502=)
NM_000377.3(WAS):c.273+10_273+11dup rs58371799
NM_000377.3(WAS):c.273+11del
NM_000377.3(WAS):c.273+11dup rs58371799
NM_000377.3(WAS):c.559+4C>T
NM_000377.3(WAS):c.560-4A>C
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000377.3(WAS):c.576G>A (p.Pro192=)
NM_000377.3(WAS):c.606C>A (p.Ile202=)
NM_000377.3(WAS):c.618C>T (p.Asp206=)
NM_000377.3(WAS):c.638G>A (p.Arg213His)
NM_000377.3(WAS):c.689AGA[2] (p.Lys232del) rs782409127
NM_000377.3(WAS):c.6T>C (p.Ser2=)
NM_000377.3(WAS):c.765G>C (p.Gln255His)
NM_000377.3(WAS):c.931+20C>A rs782462041
NM_000377.3(WAS):c.945G>A (p.Pro315=)
NM_000390.4(CHM):c.1511-6del rs775072539
NM_000390.4(CHM):c.447G>T (p.Met149Ile) rs746057999
NM_000444.6(PHEX):c.*388A>G rs759086924
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
NM_000475.5(NR0B1):c.1168+10C>G
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
NM_000489.6(ATRX):c.1017A>G (p.Val339=)
NM_000489.6(ATRX):c.105T>A (p.Pro35=)
NM_000489.6(ATRX):c.1078A>G (p.Ile360Val)
NM_000489.6(ATRX):c.1101C>T (p.Asn367=)
NM_000489.6(ATRX):c.1164A>G (p.Lys388=)
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1230A>G (p.Glu410=)
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu) rs898727479
NM_000489.6(ATRX):c.1311T>G (p.Ala437=)
NM_000489.6(ATRX):c.1384G>C (p.Ala462Pro) rs201503118
NM_000489.6(ATRX):c.1430A>G (p.Asn477Ser)
NM_000489.6(ATRX):c.1566C>G (p.Ser522=)
NM_000489.6(ATRX):c.1627G>C (p.Asp543His)
NM_000489.6(ATRX):c.180C>T (p.Ser60=) rs2072319089
NM_000489.6(ATRX):c.1856G>A (p.Gly619Asp)
NM_000489.6(ATRX):c.20+12C>T
NM_000489.6(ATRX):c.2023T>G (p.Ser675Ala)
NM_000489.6(ATRX):c.2268A>G (p.Glu756=)
NM_000489.6(ATRX):c.2429C>A (p.Thr810Asn) rs2148598084
NM_000489.6(ATRX):c.2493T>G (p.Ile831Met)
NM_000489.6(ATRX):c.2580G>T (p.Met860Ile)
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.2664C>G (p.Phe888Leu)
NM_000489.6(ATRX):c.2698A>G (p.Thr900Ala)
NM_000489.6(ATRX):c.2802G>A (p.Leu934=)
NM_000489.6(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.6(ATRX):c.3040G>A (p.Asp1014Asn)
NM_000489.6(ATRX):c.3071A>C (p.Glu1024Ala)
NM_000489.6(ATRX):c.3105T>A (p.Ile1035=)
NM_000489.6(ATRX):c.3124G>A (p.Gly1042Arg)
NM_000489.6(ATRX):c.3265A>G (p.Arg1089Gly)
NM_000489.6(ATRX):c.3408A>G (p.Glu1136=)
NM_000489.6(ATRX):c.351T>C (p.Thr117=)
NM_000489.6(ATRX):c.3612T>A (p.Ser1204=)
NM_000489.6(ATRX):c.3624AGA[1] (p.Glu1209del)
NM_000489.6(ATRX):c.3682C>T (p.Pro1228Ser)
NM_000489.6(ATRX):c.3737-9dup
NM_000489.6(ATRX):c.3810-20del
NM_000489.6(ATRX):c.3810-20dup
NM_000489.6(ATRX):c.3983C>A (p.Ser1328Tyr) rs930261155
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4027C>T (p.His1343Tyr)
NM_000489.6(ATRX):c.4076A>G (p.Lys1359Arg)
NM_000489.6(ATRX):c.4097T>A (p.Val1366Asp)
NM_000489.6(ATRX):c.4105A>G (p.Arg1369Gly)
NM_000489.6(ATRX):c.4188C>T (p.Ser1396=)
NM_000489.6(ATRX):c.4214+19A>T
NM_000489.6(ATRX):c.4293A>G (p.Gln1431=)
NM_000489.6(ATRX):c.4329G>T (p.Glu1443Asp)
NM_000489.6(ATRX):c.4372G>A (p.Glu1458Lys)
NM_000489.6(ATRX):c.4558-8del
NM_000489.6(ATRX):c.4956+12del
NM_000489.6(ATRX):c.5379C>T (p.Thr1793=)
NM_000489.6(ATRX):c.5472A>C (p.Thr1824=)
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5698-19G>A
NM_000489.6(ATRX):c.5698-7del rs781820607
NM_000489.6(ATRX):c.5698-7dup rs781820607
NM_000489.6(ATRX):c.5786+19C>T
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.5787-24GTTT[6] rs782072699
NM_000489.6(ATRX):c.5957-15A>G
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.6026C>G (p.Ala2009Gly) rs1557082359
NM_000489.6(ATRX):c.6110+12A>G
NM_000489.6(ATRX):c.6111-9dup rs1557079294
NM_000489.6(ATRX):c.6504+17C>A
NM_000489.6(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.6(ATRX):c.6555G>T (p.Leu2185=) rs781823496
NM_000489.6(ATRX):c.6659C>T (p.Ser2220Leu)
NM_000489.6(ATRX):c.6850-9dup
NM_000489.6(ATRX):c.6896C>T (p.Pro2299Leu)
NM_000489.6(ATRX):c.7017A>G (p.Thr2339=)
NM_000489.6(ATRX):c.7071+16A>G
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000489.6(ATRX):c.7335C>A (p.Ile2445=)
NM_000489.6(ATRX):c.7336A>C (p.Met2446Leu)
NM_000489.6(ATRX):c.7350C>G (p.Asn2450Lys) rs2147648778
NM_000489.6(ATRX):c.7432C>T (p.Pro2478Ser) rs199543136
NM_000489.6(ATRX):c.7436T>C (p.Met2479Thr)
NM_000539.3(RHO):c.*1099G>A rs3733148
NM_000539.3(RHO):c.*43C>A rs2071093
NM_000539.3(RHO):c.*959A>G rs368910470
NM_000553.6(WRN):c.3234-130T>C rs2725364
NM_001001344.3(ATP2B3):c.3160-57A>G rs4243536
NM_001001344.3(ATP2B3):c.665-116A>G rs2980012
NM_001004334.4(GPR179):c.3699= (p.Leu1233=) rs35803744
NM_001011658.4(TRAPPC2):c.*1436C>G rs192328990
NM_001011658.4(TRAPPC2):c.308A>G (p.Tyr103Cys)
NM_001015877.2(PHF6):c.138+10C>T rs778255925
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001015877.2(PHF6):c.241-17T>C
NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)
NM_001015877.2(PHF6):c.374+16_374+20del
NM_001015877.2(PHF6):c.399A>G (p.Lys133=) rs780193840
NM_001015877.2(PHF6):c.407A>G (p.His136Arg)
NM_001015877.2(PHF6):c.537C>G (p.Thr179=)
NM_001015877.2(PHF6):c.585+14dup
NM_001015877.2(PHF6):c.586-18T>C
NM_001015877.2(PHF6):c.648T>C (p.His216=)
NM_001079872.2(CUL4B):c.1030G>A (p.Ala344Thr)
NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)
NM_001079872.2(CUL4B):c.1164A>G (p.Gln388=)
NM_001079872.2(CUL4B):c.1257-9del rs746854249
NM_001079872.2(CUL4B):c.1257-9dup rs746854249
NM_001079872.2(CUL4B):c.1308A>G (p.Thr436=)
NM_001079872.2(CUL4B):c.1636+11C>T
NM_001079872.2(CUL4B):c.1853-19G>A
NM_001079872.2(CUL4B):c.1939-19T>C
NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)
NM_001079872.2(CUL4B):c.2046+6A>C
NM_001079872.2(CUL4B):c.2161-15T>C rs183114462
NM_001079872.2(CUL4B):c.366C>T (p.Ser122=)
NM_001079872.2(CUL4B):c.519T>G (p.Pro173=)
NM_001079872.2(CUL4B):c.776+7dup rs200461872
NM_001079872.2(CUL4B):c.819A>G (p.Arg273=)
NM_001079872.2(CUL4B):c.847-10del rs762094686
NM_001081550.2(THOC2):c.769-20dup rs201356571
NM_001082486.2(ACD):c.743-3dup rs1369632476
NM_001110219.3(GJB6):c.*227dup rs368264636
NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys)
NM_001110556.2(FLNA):c.1039G>A (p.Val347Ile) rs782234539
NM_001110556.2(FLNA):c.1093A>G (p.Ile365Val)
NM_001110556.2(FLNA):c.1095C>T (p.Ile365=) rs373366243
NM_001110556.2(FLNA):c.1243G>A (p.Glu415Lys)
NM_001110556.2(FLNA):c.1315G>A (p.Asp439Asn)
NM_001110556.2(FLNA):c.1366G>T (p.Val456Leu) rs782495199
NM_001110556.2(FLNA):c.1400G>A (p.Arg467His)
NM_001110556.2(FLNA):c.1430-16del rs782361173
NM_001110556.2(FLNA):c.1456G>A (p.Val486Ile) rs1557179006
NM_001110556.2(FLNA):c.1482T>C (p.Gly494=)
NM_001110556.2(FLNA):c.1601G>T (p.Gly534Val)
NM_001110556.2(FLNA):c.1623G>T (p.Glu541Asp)
NM_001110556.2(FLNA):c.1664C>T (p.Thr555Met) rs782611953
NM_001110556.2(FLNA):c.1691+11dup
NM_001110556.2(FLNA):c.1720T>C (p.Cys574Arg)
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001110556.2(FLNA):c.1900C>T (p.Arg634Cys)
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001110556.2(FLNA):c.2281-13del
NM_001110556.2(FLNA):c.2291G>C (p.Gly764Ala)
NM_001110556.2(FLNA):c.2358C>T (p.Ala786=)
NM_001110556.2(FLNA):c.2405-8_2405-5dup rs782040815
NM_001110556.2(FLNA):c.2515A>G (p.Thr839Ala)
NM_001110556.2(FLNA):c.2585T>C (p.Ile862Thr)
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys) rs782292045
NM_001110556.2(FLNA):c.2629G>A (p.Ala877Thr)
NM_001110556.2(FLNA):c.2650C>A (p.Arg884Ser)
NM_001110556.2(FLNA):c.2665C>T (p.Leu889Phe)
NM_001110556.2(FLNA):c.2826+7A>G rs782545599
NM_001110556.2(FLNA):c.2910C>G (p.Asp970Glu)
NM_001110556.2(FLNA):c.2952C>G (p.Asp984Glu) rs782513930
NM_001110556.2(FLNA):c.3144C>T (p.Asp1048=)
NM_001110556.2(FLNA):c.3253C>T (p.Pro1085Ser)
NM_001110556.2(FLNA):c.3387C>G (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3388G>A (p.Glu1130Lys)
NM_001110556.2(FLNA):c.33C>T (p.Ser11=)
NM_001110556.2(FLNA):c.3406A>T (p.Ile1136Phe)
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.3491A>G (p.Lys1164Arg)
NM_001110556.2(FLNA):c.3514C>T (p.Arg1172Trp)
NM_001110556.2(FLNA):c.3537C>A (p.Gly1179=)
NM_001110556.2(FLNA):c.3561C>T (p.Ser1187=) rs1396701849
NM_001110556.2(FLNA):c.374-17C>T
NM_001110556.2(FLNA):c.3805+15C>T rs144968452
NM_001110556.2(FLNA):c.3881A>C (p.Lys1294Thr)
NM_001110556.2(FLNA):c.3979+8_3979+11del rs781854538
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln) rs782490288
NM_001110556.2(FLNA):c.4083C>T (p.His1361=)
NM_001110556.2(FLNA):c.4332T>C (p.Asp1444=)
NM_001110556.2(FLNA):c.4391G>A (p.Arg1464His)
NM_001110556.2(FLNA):c.4428C>T (p.Ser1476=)
NM_001110556.2(FLNA):c.4441G>A (p.Ala1481Thr)
NM_001110556.2(FLNA):c.4462C>G (p.Gln1488Glu)
NM_001110556.2(FLNA):c.4488A>G (p.Pro1496=)
NM_001110556.2(FLNA):c.4669A>G (p.Thr1557Ala) rs782484503
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.4746C>T (p.Val1582=)
NM_001110556.2(FLNA):c.4785C>T (p.His1595=)
NM_001110556.2(FLNA):c.4808C>T (p.Thr1603Met)
NM_001110556.2(FLNA):c.495G>A (p.Lys165=)
NM_001110556.2(FLNA):c.5100G>A (p.Val1700=)
NM_001110556.2(FLNA):c.5217+13G>A rs370737630
NM_001110556.2(FLNA):c.5217+18del
NM_001110556.2(FLNA):c.5258G>A (p.Arg1753Gln)
NM_001110556.2(FLNA):c.5472A>C (p.Lys1824Asn)
NM_001110556.2(FLNA):c.5592C>T (p.Asn1864=) rs782315233
NM_001110556.2(FLNA):c.58G>T (p.Gly20Cys)
NM_001110556.2(FLNA):c.5907C>T (p.Ala1969=) rs375906241
NM_001110556.2(FLNA):c.6034G>A (p.Val2012Met)
NM_001110556.2(FLNA):c.6144T>A (p.Ser2048Arg)
NM_001110556.2(FLNA):c.6153G>A (p.Arg2051=)
NM_001110556.2(FLNA):c.6174C>T (p.His2058=)
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110556.2(FLNA):c.6302C>G (p.Thr2101Arg)
NM_001110556.2(FLNA):c.6306C>T (p.Cys2102=)
NM_001110556.2(FLNA):c.6372C>T (p.His2124=)
NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys) rs782142395
NM_001110556.2(FLNA):c.6442C>T (p.Arg2148Cys)
NM_001110556.2(FLNA):c.6502+7G>A rs782202978
NM_001110556.2(FLNA):c.6546G>A (p.Ser2182=)
NM_001110556.2(FLNA):c.6564C>T (p.Ala2188=)
NM_001110556.2(FLNA):c.6571G>A (p.Val2191Met)
NM_001110556.2(FLNA):c.6687C>T (p.Thr2229=)
NM_001110556.2(FLNA):c.6708G>A (p.Gly2236=)
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=) rs782591917
NM_001110556.2(FLNA):c.7131G>A (p.Glu2377=)
NM_001110556.2(FLNA):c.7256G>A (p.Arg2419Gln)
NM_001110556.2(FLNA):c.7323C>T (p.Gly2441=)
NM_001110556.2(FLNA):c.7333+18G>A
NM_001110556.2(FLNA):c.7365C>T (p.Ser2455=)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.7633C>G (p.Pro2545Ala)
NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=) rs782308141
NM_001110556.2(FLNA):c.7715T>C (p.Val2572Ala)
NM_001110556.2(FLNA):c.7756+11= rs7063300
NM_001110556.2(FLNA):c.7756+20G>T rs782395246
NM_001110556.2(FLNA):c.7803C>T (p.Cys2601=)
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) rs781993962
NM_001110556.2(FLNA):c.7880C>G (p.Thr2627Arg)
NM_001110556.2(FLNA):c.902G>A (p.Arg301Gln)
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001111125.3(IQSEC2):c.1402-10C>A rs183644900
NM_001111125.3(IQSEC2):c.1402-10C>G rs183644900
NM_001111125.3(IQSEC2):c.1402-11C>A rs187186062
NM_001111125.3(IQSEC2):c.1402-11C>G rs187186062
NM_001111125.3(IQSEC2):c.1402-15dup rs781861463
NM_001111125.3(IQSEC2):c.1402-9del rs781861463
NM_001111125.3(IQSEC2):c.1454G>A (p.Gly485Glu)
NM_001111125.3(IQSEC2):c.1611C>G (p.Pro537=)
NM_001111125.3(IQSEC2):c.1658C>A (p.Pro553Gln) rs782165719
NM_001111125.3(IQSEC2):c.1696G>A (p.Gly566Ser)
NM_001111125.3(IQSEC2):c.1728C>T (p.Pro576=)
NM_001111125.3(IQSEC2):c.1764T>C (p.Ala588=)
NM_001111125.3(IQSEC2):c.1848C>T (p.His616=)
NM_001111125.3(IQSEC2):c.1869T>G (p.Ala623=)
NM_001111125.3(IQSEC2):c.2265G>T (p.Arg755=)
NM_001111125.3(IQSEC2):c.226C>T (p.Pro76Ser)
NM_001111125.3(IQSEC2):c.2562G>A (p.Glu854=)
NM_001111125.3(IQSEC2):c.2571C>T (p.Ile857=)
NM_001111125.3(IQSEC2):c.2582+19_2582+29delinsGTGTGCTGGACCCTTCAGTGACTGTGACTAAGCTCTTTCTAGGTGCCTGGTCTTCTGCCAGGTG rs2147085327
NM_001111125.3(IQSEC2):c.2582+4T>G
NM_001111125.3(IQSEC2):c.2583-14dup
NM_001111125.3(IQSEC2):c.2684T>C (p.Met895Thr) rs2147080510
NM_001111125.3(IQSEC2):c.2832C>T (p.Asn944=) rs782519675
NM_001111125.3(IQSEC2):c.303G>A (p.Glu101=)
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=) rs782748833
NM_001111125.3(IQSEC2):c.3193A>G (p.Ser1065Gly) rs367700660
NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser) rs782569979
NM_001111125.3(IQSEC2):c.3356C>T (p.Thr1119Met) rs782558010
NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His) rs868984872
NM_001111125.3(IQSEC2):c.3414C>T (p.Gly1138=)
NM_001111125.3(IQSEC2):c.3552C>G (p.Pro1184=) rs1556859344
NM_001111125.3(IQSEC2):c.3591C>G (p.Pro1197=)
NM_001111125.3(IQSEC2):c.3662C>A (p.Pro1221Gln)
NM_001111125.3(IQSEC2):c.3717CCA[8] (p.His1247dup) rs782189881
NM_001111125.3(IQSEC2):c.3753C>T (p.His1251=) rs782399288
NM_001111125.3(IQSEC2):c.3864C>G (p.Pro1288=)
NM_001111125.3(IQSEC2):c.4081C>T (p.Leu1361=)
NM_001111125.3(IQSEC2):c.4205C>T (p.Ala1402Val)
NM_001111125.3(IQSEC2):c.4226G>A (p.Arg1409Gln)
NM_001111125.3(IQSEC2):c.619C>A (p.Arg207Ser) rs1295281780
NM_001111125.3(IQSEC2):c.643C>T (p.Pro215Ser) rs1037744173
NM_001111125.3(IQSEC2):c.708-18dup rs782120447
NM_001111125.3(IQSEC2):c.708-19_708-18del
NM_001111125.3(IQSEC2):c.74A>G (p.Glu25Gly) rs2075427734
NM_001111125.3(IQSEC2):c.756A>G (p.Pro252=)
NM_001111125.3(IQSEC2):c.999+12G>A
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001159699.2(FHL1):c.737-3dup
NM_001159699.2(FHL1):c.737-9del rs374867802
NM_001159699.2(FHL1):c.737-9dup rs374867802
NM_001167.4(XIAP):c.*1298G>C rs41312612
NM_001167.4(XIAP):c.*4149A>G rs770722290
NM_001167.4(XIAP):c.*579G>A rs758981602
NM_001167.4(XIAP):c.1042C>T (p.Leu348Phe)
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001167.4(XIAP):c.1056+13_1056+14del rs1491462505
NM_001167.4(XIAP):c.1099+20A>G rs751904914
NM_001167.4(XIAP):c.1100-8del
NM_001167.4(XIAP):c.1122T>C (p.Pro374=)
NM_001167.4(XIAP):c.1299A>G (p.Lys433=)
NM_001167.4(XIAP):c.134C>T (p.Ser45Leu)
NM_001167.4(XIAP):c.471C>T (p.Asn157=)
NM_001167.4(XIAP):c.532C>T (p.His178Tyr)
NM_001167.4(XIAP):c.807C>G (p.Ile269Met)
NM_001167.4(XIAP):c.878-5C>G rs367801081
NM_001167.4(XIAP):c.878-5C>T rs367801081
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)
NM_001252024.2(TRPM1):c.*549T>C rs112061822
NM_001252024.2(TRPM1):c.2149G>A (p.Ala717Thr) rs138944426
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001252024.2(TRPM1):c.3907G>A (p.Glu1303Lys) rs117855013
NM_001252024.2(TRPM1):c.4330C>G (p.Arg1444Gly) rs3784587
NM_001252024.2(TRPM1):c.4452G>A (p.Thr1484=) rs16956430
NM_001256789.3(CACNA1F):c.2928+5C>T rs2147908085
NM_001256789.3(CACNA1F):c.3037-30G>A rs2065733290
NM_001271696.3(ABCB7):c.168+69C>G rs1039123
NM_001278116.2(L1CAM):c.-109+234del rs199975679
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG rs143464562
NM_001330574.2(ZNF711):c.-473GGC[10] rs758475553
NM_001330574.2(ZNF711):c.1368G>A (p.Met456Ile) rs200444579
NM_001353921.2(ARHGEF9):c.1321+16G>T
NM_001353921.2(ARHGEF9):c.1322-10del
NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu) rs374753195
NM_001353921.2(ARHGEF9):c.1548C>T (p.Ser516=)
NM_001353921.2(ARHGEF9):c.270C>T (p.His90=)
NM_001353921.2(ARHGEF9):c.30+10T>C
NM_001353921.2(ARHGEF9):c.583-13del
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser) rs782497496
NM_001353921.2(ARHGEF9):c.816-12_816-11del rs781845457
NM_001356.5(DDX3X):c.42G>C (p.Gln14His) rs2147332861
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001375834.1(WIPF1):c.1130-8dup
NM_001375834.1(WIPF1):c.1227T>C (p.Ser409=) rs577852991
NM_001375834.1(WIPF1):c.1342+20C>T rs77346261
NM_001375834.1(WIPF1):c.181+13dup
NM_001399.5(EDA):c.1000C>T (p.Arg334Cys)
NM_001399.5(EDA):c.1044C>T (p.Thr348=)
NM_001399.5(EDA):c.1104C>T (p.Asp368=) rs150292516
NM_001399.5(EDA):c.197C>T (p.Ser66Leu)
NM_001399.5(EDA):c.205C>T (p.Arg69Trp)
NM_001399.5(EDA):c.215G>A (p.Arg72His)
NM_001399.5(EDA):c.250_258del (p.Pro84_Thr86del) rs763527972
NM_001399.5(EDA):c.503-13A>G
NM_001399.5(EDA):c.503-14T>C
NM_001399.5(EDA):c.526+20A>C
NM_001399.5(EDA):c.707-18T>G
NM_001399.5(EDA):c.741+18C>G
NM_001399.5(EDA):c.793+19T>C
NM_002025.4(AFF2):c.1558-78G>C rs16994868
NM_002139.4(RBMX):c.-1C>A rs2011584
NM_002351.5(SH2D1A):c.201+20del
NM_002351.5(SH2D1A):c.347-32_347-28del rs200198093
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.84C>T (p.Ser28=)
NM_002578.5(PAK3):c.*515del
NM_002578.5(PAK3):c.-492G>A rs751584564
NM_003975.4(SH2D2A):c.123+181C>T rs1800601
NM_004586.3(RPS6KA3):c.1000-10del rs748680802
NM_004586.3(RPS6KA3):c.1000-19dup rs748680802
NM_004586.3(RPS6KA3):c.1026G>A (p.Pro342=)
NM_004586.3(RPS6KA3):c.1029A>G (p.Pro343=)
NM_004586.3(RPS6KA3):c.1103-10C>T
NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val)
NM_004586.3(RPS6KA3):c.1248T>G (p.Ile416Met)
NM_004586.3(RPS6KA3):c.126+13T>C
NM_004586.3(RPS6KA3):c.1296C>T (p.Ser432=)
NM_004586.3(RPS6KA3):c.1353+13dup rs766402947
NM_004586.3(RPS6KA3):c.1353+5A>T
NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=)
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)
NM_004586.3(RPS6KA3):c.1593C>T (p.His531=)
NM_004586.3(RPS6KA3):c.1662G>A (p.Pro554=)
NM_004586.3(RPS6KA3):c.1710G>A (p.Ala570=)
NM_004586.3(RPS6KA3):c.1842-7A>G
NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=)
NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=)
NM_004586.3(RPS6KA3):c.304T>C (p.Leu102=)
NM_004586.3(RPS6KA3):c.406+12C>A
NM_004586.3(RPS6KA3):c.406+13C>T
NM_004586.3(RPS6KA3):c.426G>A (p.Lys142=)
NM_004586.3(RPS6KA3):c.593+16A>G
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_004586.3(RPS6KA3):c.618C>T (p.His206=)
NM_004586.3(RPS6KA3):c.631+12del
NM_004586.3(RPS6KA3):c.631+12dup rs751517771
NM_004586.3(RPS6KA3):c.642A>G (p.Leu214=)
NM_004586.3(RPS6KA3):c.70-20G>A
NM_004586.3(RPS6KA3):c.845+10C>T
NM_004586.3(RPS6KA3):c.885G>A (p.Ala295=)
NM_004615.3(TSPAN7):c.-33_-31CCG[6] rs398124180
NM_005120.3(MED12):c.1011A>C (p.Pro337=)
NM_005120.3(MED12):c.1101+14G>A
NM_005120.3(MED12):c.1113G>A (p.Leu371=) rs780470012
NM_005120.3(MED12):c.1203G>A (p.Pro401=) rs368546216
NM_005120.3(MED12):c.1265G>A (p.Arg422Gln)
NM_005120.3(MED12):c.1281G>A (p.Gln427=)
NM_005120.3(MED12):c.1485+6C>T rs565198403
NM_005120.3(MED12):c.1639G>A (p.Ala547Thr) rs370812643
NM_005120.3(MED12):c.171C>T (p.Gly57=)
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.2271G>A (p.Leu757=) rs756091104
NM_005120.3(MED12):c.2372-9C>T
NM_005120.3(MED12):c.2423-6C>T
NM_005120.3(MED12):c.2568C>T (p.Ile856=)
NM_005120.3(MED12):c.2685+20G>A
NM_005120.3(MED12):c.2727C>T (p.Leu909=)
NM_005120.3(MED12):c.2778C>T (p.Ile926=)
NM_005120.3(MED12):c.3009C>G (p.Thr1003=)
NM_005120.3(MED12):c.3181G>A (p.Val1061Ile)
NM_005120.3(MED12):c.3355-11T>C
NM_005120.3(MED12):c.3355-14G>T
NM_005120.3(MED12):c.3355-8dup rs750373111
NM_005120.3(MED12):c.3426C>T (p.Leu1142=)
NM_005120.3(MED12):c.3483T>C (p.Ser1161=)
NM_005120.3(MED12):c.3567G>T (p.Gln1189His) rs2147804945
NM_005120.3(MED12):c.3691+9dup rs966516434
NM_005120.3(MED12):c.369C>T (p.Thr123=) rs769484204
NM_005120.3(MED12):c.3736A>G (p.Thr1246Ala)
NM_005120.3(MED12):c.3795C>T (p.Gly1265=)
NM_005120.3(MED12):c.3990G>C (p.Leu1330=)
NM_005120.3(MED12):c.4416-77CTCTT[14] rs56658066
NM_005120.3(MED12):c.4449G>A (p.Ser1483=)
NM_005120.3(MED12):c.4527+18A>G
NM_005120.3(MED12):c.4566T>C (p.Asp1522=)
NM_005120.3(MED12):c.4727+17C>T
NM_005120.3(MED12):c.4806G>A (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.5025+20C>T
NM_005120.3(MED12):c.5175C>T (p.Leu1725=)
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg) rs1295791827
NM_005120.3(MED12):c.5376C>T (p.Arg1792=)
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys)
NM_005120.3(MED12):c.5511C>T (p.Gly1837=)
NM_005120.3(MED12):c.5749-11del rs2147830057
NM_005120.3(MED12):c.5749-15C>T
NM_005120.3(MED12):c.5827-15C>T
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
NM_005120.3(MED12):c.6060A>T (p.Thr2020=)
NM_005120.3(MED12):c.6075C>A (p.Pro2025=)
NM_005120.3(MED12):c.6128G>A (p.Arg2043His)
NM_005120.3(MED12):c.6150GCA[3] (p.Gln2074_Gln2076del)
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.6408+22del
NM_005120.3(MED12):c.6411C>T (p.Phe2137=)
NM_005120.3(MED12):c.6426T>G (p.Leu2142=)
NM_005120.3(MED12):c.6491-20T>C
NM_005120.3(MED12):c.751A>C (p.Arg251=)
NM_005120.3(MED12):c.796C>T (p.Arg266Cys)
NM_005120.3(MED12):c.846+6dup
NM_005120.3(MED12):c.954T>C (p.His318=)
NM_005120.3(MED12):c.958A>G (p.Ile320Val) rs781192327
NM_005120.3(MED12):c.958A>T (p.Ile320Leu)
NM_005334.3(HCFC1):c.1084+17C>T
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)
NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)
NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)
NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)
NM_005334.3(HCFC1):c.1378A>G (p.Thr460Ala)
NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)
NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)
NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)
NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)
NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)
NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)
NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)
NM_005334.3(HCFC1):c.2028+18C>T
NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)
NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)
NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)
NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)
NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)
NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)
NM_005334.3(HCFC1):c.2496+18G>A
NM_005334.3(HCFC1):c.2497-9G>T
NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.261C>T (p.Phe87=)
NM_005334.3(HCFC1):c.264G>A (p.Val88=)
NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)
NM_005334.3(HCFC1):c.270C>T (p.Asp90=)
NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)
NM_005334.3(HCFC1):c.273G>C (p.Gly91=)
NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)
NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)
NM_005334.3(HCFC1):c.2857-14G>C
NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)
NM_005334.3(HCFC1):c.297G>C (p.Gly99=)
NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) rs782300483
NM_005334.3(HCFC1):c.3063C>T (p.His1021=)
NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)
NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)
NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
NM_005334.3(HCFC1):c.3268ACCGCCACC[1] (p.1090TAT[1])
NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)
NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)
NM_005334.3(HCFC1):c.342+11C>T
NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)
NM_005334.3(HCFC1):c.348C>T (p.Ser116=)
NM_005334.3(HCFC1):c.3518C>T (p.Ala1173Val)
NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)
NM_005334.3(HCFC1):c.351G>A (p.Arg117=)
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)
NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)
NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)
NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
NM_005334.3(HCFC1):c.3734C>G (p.Ser1245Cys)
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)
NM_005334.3(HCFC1):c.3775G>A (p.Glu1259Lys)
NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)
NM_005334.3(HCFC1):c.3891C>T (p.His1297=)
NM_005334.3(HCFC1):c.390C>T (p.Asn130=)
NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)
NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)
NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)
NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)
NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)
NM_005334.3(HCFC1):c.4135G>A (p.Asp1379Asn)
NM_005334.3(HCFC1):c.4142C>T (p.Thr1381Ile)
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=) rs782136932
NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)
NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)
NM_005334.3(HCFC1):c.429C>T (p.Ser143=)
NM_005334.3(HCFC1):c.4334-10G>A
NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)
NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)
NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)
NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)
NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)
NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)
NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)
NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)
NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)
NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)
NM_005334.3(HCFC1):c.4498-7C>T
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)
NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)
NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)
NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)
NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr)
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)
NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)
NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)
NM_005334.3(HCFC1):c.4728_4730del (p.Pro1577del)
NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)
NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)
NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)
NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)
NM_005334.3(HCFC1):c.508C>T (p.Leu170=)
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)
NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser)
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)
NM_005334.3(HCFC1):c.525C>T (p.Ile175=)
NM_005334.3(HCFC1):c.5260+16C>T
NM_005334.3(HCFC1):c.5261-5C>T
NM_005334.3(HCFC1):c.5329G>A (p.Ala1777Thr)
NM_005334.3(HCFC1):c.5380-20G>A
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) rs782769309
NM_005334.3(HCFC1):c.5517+20G>C
NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)
NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)
NM_005334.3(HCFC1):c.5703+18del
NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)
NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)
NM_005334.3(HCFC1):c.585C>G (p.Val195=)
NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)
NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)
NM_005334.3(HCFC1):c.6004+14G>T
NM_005334.3(HCFC1):c.6005-12C>G rs181583112
NM_005334.3(HCFC1):c.6005-12C>T rs181583112
NM_005334.3(HCFC1):c.6068+20C>T
NM_005334.3(HCFC1):c.6069-20T>C
NM_005334.3(HCFC1):c.6069-8C>T
NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)
NM_005334.3(HCFC1):c.703C>T (p.Leu235=)
NM_005334.3(HCFC1):c.713-12G>A
NM_005334.3(HCFC1):c.713-18C>T
NM_005334.3(HCFC1):c.750G>A (p.Val250=)
NM_005334.3(HCFC1):c.777G>A (p.Ser259=)
NM_005334.3(HCFC1):c.921G>A (p.Glu307=)
NM_005334.3(HCFC1):c.978C>T (p.Cys326=)
NM_005334.3(HCFC1):c.993C>T (p.Asn331=)
NM_005391.5(PDK3):c.1045G>A (p.Gly349Arg)
NM_005391.5(PDK3):c.1077+12del rs1922655377
NM_005391.5(PDK3):c.1077+13A>T
NM_005391.5(PDK3):c.249-9del rs374771377
NM_005391.5(PDK3):c.249-9dup rs374771377
NM_005391.5(PDK3):c.42G>C (p.Lys14Asn)
NM_005391.5(PDK3):c.567C>T (p.Pro189=)
NM_005391.5(PDK3):c.681G>A (p.Ala227=)
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005765.3(ATP6AP2):c.132C>T (p.Asp44=)
NM_005765.3(ATP6AP2):c.534+10G>C rs758140053
NM_006950.3(SYN1):c.1056-14_1056-8del rs377385507
NM_006950.3(SYN1):c.144C>G (p.Thr48=)
NM_006950.3(SYN1):c.1821G>T (p.Ala607=)
NM_007325.5(GRIA3):c.268+16757dup rs778944548
NM_007325.5(GRIA3):c.268+16762dup rs11452643
NM_007325.5(GRIA3):c.384dup (p.Phe129fs) rs2147282654
NM_014271.4(IL1RAPL1):c.-302del rs779869307
NM_016032.4(ZDHHC9):c.354G>C (p.Gln118His) rs1927947896
NM_016032.4(ZDHHC9):c.488-15C>G
NM_016032.4(ZDHHC9):c.488-19CT[3] rs762762877
NM_016032.4(ZDHHC9):c.621C>T (p.Ala207=)
NM_016032.4(ZDHHC9):c.674+10G>A
NM_016032.4(ZDHHC9):c.714C>T (p.Ser238=)
NM_016032.4(ZDHHC9):c.987A>C (p.Thr329=)
NM_017875.4(SLC25A38):c.*642del rs34288981
NM_020061.6(OPN1LW):c.511G>A (p.Val171Met) rs5986963
NM_020061.6(OPN1LW):c.513G>T (p.Val171=) rs5986964
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup) rs201922875
NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup) rs143151534
NM_024528.4(NKAP):c.538+8T>A rs194308
NM_024528.4(NKAP):c.539-17A>T rs194307
NM_024528.4(NKAP):c.600ATC[1] (p.Ser202del) rs10577974
NM_031206.7(LAS1L):c.1114G>A (p.Val372Ile) rs186130633
NM_031206.7(LAS1L):c.1209C>G (p.Leu403=)
NM_031206.7(LAS1L):c.1301-18T>A
NM_031206.7(LAS1L):c.1788TGATGAAGA[1] (p.596DDE[1]) rs766197666
NM_031206.7(LAS1L):c.1788TGA[1] (p.Asp597del) rs750470319
NM_031206.7(LAS1L):c.2061C>G (p.Pro687=)
NM_031206.7(LAS1L):c.362+20G>C
NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys) rs201226547
NM_033380.3(COL4A5):c.1032+17del rs761615270
NM_033380.3(COL4A5):c.1032+17dup rs761615270
NM_033380.3(COL4A5):c.1032+25G>A rs58190747
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val) rs281874709
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033380.3(COL4A5):c.891+37A>G rs2294543
NM_033641.4(COL4A6):c.1180+4dup rs368897242
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln) rs34740537
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu) rs34740537
NM_033641.4(COL4A6):c.1952-2785_1952-2784insAGA rs146680910
NM_033641.4(COL4A6):c.2132-6G>A rs201589060
NM_033641.4(COL4A6):c.2132-6G>T rs201589060
NM_033641.4(COL4A6):c.687+30C>A rs1266730
NM_033641.4(COL4A6):c.853GAAAAGGGA[2] (p.285EKG[2]) rs772506311
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys) rs373472438
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)
NM_080632.3(UPF3B):c.1197A>G (p.Thr399=)
NM_080632.3(UPF3B):c.140A>C (p.Lys47Thr)
NM_080632.3(UPF3B):c.146C>T (p.Ala49Val)
NM_080632.3(UPF3B):c.157-16T>G rs769285530
NM_080632.3(UPF3B):c.263+14_263+18dup
NM_080632.3(UPF3B):c.263+15_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+17_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+18del rs55712755
NM_080632.3(UPF3B):c.263+18dup rs55712755
NM_080632.3(UPF3B):c.294C>T (p.Tyr98=)
NM_080632.3(UPF3B):c.30G>A (p.Lys10=) rs557005278
NM_080632.3(UPF3B):c.370+20G>A
NM_080632.3(UPF3B):c.371-9del
NM_080632.3(UPF3B):c.384C>T (p.Pro128=)
NM_080632.3(UPF3B):c.93G>A (p.Gly31=)
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)
NM_139058.3(ARX):c.1073+20G>A
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr) rs776523818
NM_139058.3(ARX):c.1204G>A (p.Gly402Arg) rs2048682884
NM_139058.3(ARX):c.1272G>T (p.Pro424=) rs398124507
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1333C>T (p.Pro445Ser) rs2147320407
NM_139058.3(ARX):c.1345G>A (p.Gly449Ser) rs2147320401
NM_139058.3(ARX):c.215G>C (p.Ser72Thr) rs1556056580
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del) rs387906492
NM_139058.3(ARX):c.421G>A (p.Gly141Ser) rs2048712606
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del) rs750585274
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_144499.3(GNAT1):c.-2C>G rs151191490
NM_145200.5(CABP4):c.192C>T (p.Pro64=) rs1790765
NM_145200.5(CABP4):c.541+8A>C rs1638565
NM_153252.5(BRWD3):c.*265AC[4] rs35220611
NM_153252.5(BRWD3):c.*6331C>G rs11266586
NM_153252.5(BRWD3):c.-229C>T rs766658667
NM_153252.5(BRWD3):c.-239TC[6] rs545281823
NM_153252.5(BRWD3):c.-283CT[8] rs199953219
NM_153252.5(BRWD3):c.31+23dup rs200402115
NM_153252.5(BRWD3):c.3602+15A>C rs374172860
NM_153252.5(BRWD3):c.3865-119TA[9] rs3029738
NM_153252.5(BRWD3):c.592-47_592-45dup rs58601634
NM_171998.4(RAB39B):c.*1656= rs3105275

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.