NM_000211.5(ITGB2):c.1062= (p.His354=)
|
rs235330
|
0.99991
|
NM_016335.6(PRODH):c.1562= (p.Arg521=)
|
rs450046
|
0.99713
|
NM_022336.4(EDAR):c.655+30T>C
|
rs260630
|
0.90817
|
NM_022336.4(EDAR):c.750C>T (p.Ser250=)
|
rs260632
|
0.90287
|
NM_022336.4(EDAR):c.*42G>T
|
rs7607563
|
0.86887
|
NM_016335.6(PRODH):c.1741C>T (p.Leu581=)
|
rs372055
|
0.75175
|
NM_022336.4(EDAR):c.1056C>T (p.Cys352=)
|
rs12623957
|
0.72397
|
NM_022336.4(EDAR):c.1024+44C>T
|
rs260639
|
0.71201
|
NM_022336.4(EDAR):c.731-99C>T
|
rs260631
|
0.69088
|
NM_022893.4(BCL11A):c.386-24278G>A
|
rs11886868
|
0.65121
|
NM_005013.2(NUCB2):c.-406C>G
|
rs214088
|
0.62041
|
NM_005013.4(NUCB2):c.-166G>C
|
rs214087
|
0.48104
|
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
NM_007294.4(BRCA1):c.671-248_671-246dup
|
rs5820483
|
0.33157
|
NM_006620.3(HBS1L):c.-380A>C
|
rs28384513
|
0.31338
|
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
|
rs1799949
|
0.30810
|
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg)
|
rs16942
|
0.30784
|
NM_007294.4(BRCA1):c.5152+66G>A
|
rs3092994
|
0.30314
|
NM_005105.5(RBM8A):c.67+93A>T
|
rs872786
|
0.29287
|
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)
|
rs1060915
|
0.29170
|
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)
|
rs16941
|
0.29115
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)
|
rs1801406
|
0.28273
|
NM_000211.5(ITGB2):c.994-47G>A
|
rs2838725
|
0.24547
|
NM_007294.4(BRCA1):c.5074+65G>A
|
rs8176235
|
0.23738
|
NM_000211.5(ITGB2):c.1101C>A (p.Val367=)
|
rs2230529
|
0.23426
|
NM_007294.4(BRCA1):c.5074+284C>A
|
rs11654396
|
0.23139
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_000211.5(ITGB2):c.2248-127G>C
|
rs235375
|
0.22047
|
NM_000211.5(ITGB2):c.819G>A (p.Gly273=)
|
rs2230528
|
0.21986
|
NC_000006.12:g.135105435A>G
|
rs4895441
|
0.21408
|
NM_000211.5(ITGB2):c.24G>T (p.Leu8=)
|
rs11088969
|
0.20978
|
NM_000059.4(BRCA2):c.-26G>A
|
rs1799943
|
0.20795
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)
|
rs1799958
|
0.20617
|
NM_000211.5(ITGB2):c.500-11G>T
|
rs55865320
|
0.16920
|
NM_001330227.2(NUCB2):c.-254A>G
|
rs4757506
|
0.13527
|
NM_000211.5(ITGB2):c.742-13G>A
|
rs5030670
|
0.12263
|
NM_000211.5(ITGB2):c.58+12G>A
|
rs2280965
|
0.09186
|
NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu)
|
rs959216315
|
0.04723
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_001145809.2(MYH14):c.3468-3C>T
|
rs78192108
|
0.01724
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
NM_000211.5(ITGB2):c.329-6C>T
|
rs9983887
|
0.00876
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750
|
0.00844
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)
|
rs17089782
|
0.00771
|
NM_002078.5(GOLGA4):c.6174A>T (p.Arg2058Ser)
|
rs11924014
|
0.00763
|
NM_000534.5(PMS1):c.605G>A (p.Arg202Lys)
|
rs2066459
|
0.00741
|
NM_001902.6(CTH):c.200C>T (p.Thr67Ile)
|
rs28941785
|
0.00693
|
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)
|
rs62619919
|
0.00690
|
NM_001352663.1(NUCB2):c.-431G>A
|
rs182903196
|
0.00688
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_000043.6(FAS):c.183G>A (p.Lys61=)
|
rs3218613
|
0.00606
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly)
|
rs142404759
|
0.00555
|
NM_001308330.2(STXBP5L):c.1135G>A (p.Val379Met)
|
rs61996323
|
0.00545
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)
|
rs121917710
|
0.00511
|
NM_001082.5(CYP4F2):c.648-7C>A
|
rs3093221
|
0.00504
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr)
|
rs11558436
|
0.00480
|
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp)
|
rs114203198
|
0.00479
|
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)
|
rs202057391
|
0.00476
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
NM_016335.6(PRODH):c.865T>A (p.Leu289Met)
|
rs137852934
|
0.00464
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_033027.4(CSRNP1):c.1432C>T (p.Leu478Phe)
|
rs147162469
|
0.00447
|
NM_032608.7(MYO18B):c.7345C>T (p.Arg2449Trp)
|
rs149103381
|
0.00446
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu)
|
rs145980033
|
0.00420
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His)
|
rs41548013
|
0.00404
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_001067.4(TOP2A):c.1737+5G>A
|
rs140672916
|
0.00360
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_021870.3(FGG):c.571G>A (p.Gly191Arg)
|
rs6063
|
0.00339
|
NM_000900.5(MGP):c.157A>G (p.Lys53Glu)
|
rs1801716
|
0.00329
|
NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr)
|
rs191837710
|
0.00322
|
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)
|
rs137852783
|
0.00320
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys)
|
rs139626312
|
0.00311
|
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser)
|
rs41271277
|
0.00309
|
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)
|
rs119103280
|
0.00303
|
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)
|
rs148278887
|
0.00295
|
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)
|
rs76308115
|
0.00292
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
|
rs191830054
|
0.00256
|
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)
|
rs182840163
|
0.00248
|
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met)
|
rs74407840
|
0.00243
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_194248.3(OTOF):c.245G>A (p.Arg82His)
|
rs149766574
|
0.00237
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00234
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000534.5(PMS1):c.1609G>A (p.Glu537Lys)
|
rs151325573
|
0.00212
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
NM_005732.4(RAD50):c.980G>A (p.Arg327His)
|
rs28903091
|
0.00207
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_000526.5(KRT14):c.88C>T (p.Arg30Cys)
|
rs201069984
|
0.00188
|
NM_001017922.2(ERMAP):c.169G>A (p.Gly57Arg)
|
rs56025238
|
0.00181
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)
|
rs144486825
|
0.00176
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
NM_021176.3(G6PC2):c.847C>T (p.Arg283Ter)
|
rs146779637
|
0.00162
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr)
|
rs138138436
|
0.00155
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)
|
rs142295786
|
0.00150
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)
|
rs149051060
|
0.00145
|
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)
|
rs146264035
|
0.00143
|
NM_015571.4(SENP6):c.113A>G (p.His38Arg)
|
rs34451237
|
0.00137
|
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser)
|
rs146370051
|
0.00135
|
NM_002354.3(EPCAM):c.831A>G (p.Ile277Met)
|
rs115283528
|
0.00135
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)
|
rs201062903
|
0.00124
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)
|
rs140901235
|
0.00119
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_001276700.2(NLRP6):c.669G>C (p.Lys223Asn)
|
rs141755467
|
0.00114
|
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)
|
rs138771398
|
0.00114
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)
|
rs138187791
|
0.00113
|
NM_001286611.2(REPS1):c.2056C>T (p.Pro686Ser)
|
rs144226246
|
0.00112
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001141.3(ALOX15B):c.1382G>A (p.Arg461Gln)
|
rs140623478
|
0.00110
|
NM_005557.4(KRT16):c.539C>T (p.Ala180Val)
|
rs142750223
|
0.00104
|
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)
|
rs1064422
|
0.00104
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)
|
rs55708915
|
0.00091
|
NM_017613.4(DONSON):c.82A>C (p.Ser28Arg)
|
rs768071555
|
0.00090
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_000276.4(OCRL):c.40-5C>T
|
rs201211377
|
0.00088
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs)
|
rs1290125655
|
0.00082
|
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)
|
rs140243105
|
0.00081
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)
|
rs200780796
|
0.00065
|
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)
|
rs750958357
|
0.00065
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_001286611.2(REPS1):c.1927G>A (p.Asp643Asn)
|
rs140387177
|
0.00063
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_001130144.3(LTBP3):c.989C>T (p.Pro330Leu)
|
rs28403592
|
0.00056
|
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn)
|
rs141242566
|
0.00056
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys)
|
rs145029982
|
0.00052
|
NM_015335.5(MED13L):c.1910G>A (p.Arg637His)
|
rs146499452
|
0.00052
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg)
|
rs201424543
|
0.00049
|
NM_012123.4(MTO1):c.1129+246G>A
|
rs118010902
|
0.00049
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000085.5(CLCNKB):c.656-31del
|
rs751608665
|
0.00046
|
NM_001388464.1(H2BW2):c.257T>C (p.Ile86Thr)
|
rs782616912
|
0.00046
|
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)
|
rs201975029
|
0.00045
|
NM_001378183.1(PIEZO2):c.5080G>A (p.Asp1694Asn)
|
rs114649884
|
0.00044
|
NM_001382567.1(STIM1):c.2021G>A (p.Arg674His)
|
rs140080199
|
0.00044
|
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr)
|
rs200203979
|
0.00043
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr)
|
rs141488398
|
0.00042
|
NM_144639.3(UROC1):c.854G>A (p.Trp285Ter)
|
rs202232611
|
0.00041
|
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter)
|
rs576724182
|
0.00041
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_033380.3(COL4A5):c.2510-33A>G
|
rs104886358
|
0.00039
|
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)
|
rs150983093
|
0.00038
|
NM_002213.5(ITGB5):c.721C>T (p.Arg241Trp)
|
rs201926531
|
0.00038
|
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)
|
rs147446660
|
0.00038
|
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His)
|
rs767529359
|
0.00038
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)
|
rs201724032
|
0.00036
|
NM_003038.5(SLC1A4):c.1316G>A (p.Gly439Glu)
|
rs144796570
|
0.00036
|
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln)
|
rs202017613
|
0.00036
|
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs)
|
rs781490139
|
0.00036
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys)
|
rs142016804
|
0.00032
|
NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr)
|
rs139684349
|
0.00031
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)
|
rs147157374
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_001170535.3(ATAD3A):c.1693C>T (p.His565Tyr)
|
rs200344678
|
0.00027
|
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys)
|
rs547608972
|
0.00026
|
NM_005198.5(CHKB):c.38C>T (p.Ala13Val)
|
rs779585255
|
0.00026
|
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)
|
rs185142838
|
0.00025
|
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp)
|
rs121918729
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter)
|
rs200390529
|
0.00025
|
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala)
|
rs200278015
|
0.00025
|
NM_001089.3(ABCA3):c.1891G>A (p.Ala631Thr)
|
rs139738862
|
0.00024
|
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr)
|
rs181892289
|
0.00024
|
NM_020944.3(GBA2):c.786+9C>A
|
rs374309697
|
0.00023
|
NM_022915.5(MRPL44):c.313C>T (p.Arg105Cys)
|
rs144037629
|
0.00023
|
NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp)
|
rs189694750
|
0.00022
|
NM_024011.4(CDK11A):c.740G>A (p.Arg247Gln)
|
rs1266756785
|
0.00022
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu)
|
rs568280615
|
0.00021
|
NM_001171.6(ABCC6):c.2247+22T>G
|
rs72664298
|
0.00021
|
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys)
|
rs200180113
|
0.00021
|
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
|
rs199783239
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys)
|
rs201299366
|
0.00021
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
NM_015192.4(PLCB1):c.3337-69G>A
|
rs45541432
|
0.00021
|
NM_020949.3(SLC7A14):c.1246C>T (p.Leu416Phe)
|
rs753129566
|
0.00021
|
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu)
|
rs769669385
|
0.00021
|
NM_199242.3(UNC13D):c.118-308C>T
|
rs959968589
|
0.00021
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys)
|
rs104895443
|
0.00020
|
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln)
|
rs200269431
|
0.00020
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
NM_000338.3(SLC12A1):c.724+547C>T
|
rs377680472
|
0.00019
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_000690.4(ALDH2):c.802C>T (p.Arg268Cys)
|
rs201835306
|
0.00019
|
NM_001140.5(ALOX15):c.305G>T (p.Gly102Val)
|
rs41439950
|
0.00019
|
NM_001193313.2(SUGCT):c.301C>T (p.Arg101Ter)
|
rs137852862
|
0.00019
|
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)
|
rs143877538
|
0.00019
|
NM_022336.4(EDAR):c.207C>T (p.Tyr69=)
|
rs147059377
|
0.00019
|
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu)
|
rs191568463
|
0.00019
|
NM_001620.3(AHNAK):c.10589A>G (p.Lys3530Arg)
|
rs143895650
|
0.00018
|
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys)
|
rs143212851
|
0.00017
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln)
|
rs372168003
|
0.00016
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_014813.3(LRIG2):c.1696C>T (p.His566Tyr)
|
rs201013312
|
0.00016
|
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met)
|
rs142756842
|
0.00016
|
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)
|
rs185031797
|
0.00015
|
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)
|
rs121434250
|
0.00015
|
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met)
|
rs778274864
|
0.00015
|
NM_000419.5(ITGA2B):c.457G>A (p.Ala153Thr)
|
rs199641871
|
0.00014
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_001366977.1(PNCK):c.229G>A (p.Glu77Lys)
|
rs782100269
|
0.00014
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln)
|
rs199772480
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00013
|
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala)
|
rs759668768
|
0.00013
|
NM_001283009.2(RTEL1):c.208C>T (p.Arg70Cys)
|
rs778775766
|
0.00013
|
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp)
|
rs779079128
|
0.00013
|
NM_014844.5(TECPR2):c.53A>G (p.Tyr18Cys)
|
rs150645913
|
0.00013
|
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys)
|
rs540674198
|
0.00013
|
NM_020944.3(GBA2):c.1495G>A (p.Glu499Lys)
|
rs35818148
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_003124.5(SPR):c.628C>T (p.Arg210Trp)
|
rs200845457
|
0.00012
|
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)
|
rs771392678
|
0.00012
|
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)
|
rs376076241
|
0.00012
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His)
|
rs587782989
|
0.00011
|
NM_001286577.2(C2CD3):c.6968G>A (p.Arg2323His)
|
rs958229850
|
0.00011
|
NM_002139.4(RBMX):c.389-8T>C
|
rs181515589
|
0.00011
|
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly)
|
rs374431961
|
0.00011
|
NM_004044.7(ATIC):c.1751A>G (p.His584Arg)
|
rs201429123
|
0.00011
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)
|
rs201735454
|
0.00011
|
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)
|
rs563858170
|
0.00011
|
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His)
|
rs200945986
|
0.00011
|
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp)
|
rs200672589
|
0.00011
|
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp)
|
rs200389929
|
0.00011
|
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)
|
rs142652588
|
0.00011
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)
|
rs148370803
|
0.00010
|
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His)
|
rs147063981
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)
|
rs142894102
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_001231.5(CASQ1):c.1018G>A (p.Asp340Asn)
|
rs749145120
|
0.00010
|
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)
|
rs202134424
|
0.00010
|
NM_001378183.1(PIEZO2):c.4799G>A (p.Arg1600Gln)
|
rs374051556
|
0.00010
|
NM_001620.3(AHNAK):c.1094G>T (p.Gly365Val)
|
rs201078275
|
0.00010
|
NM_001853.4(COL9A3):c.1987G>A (p.Asp663Asn)
|
rs149805455
|
0.00010
|
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr)
|
rs34124921
|
0.00010
|
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln)
|
rs201234013
|
0.00010
|
NM_005529.7(HSPG2):c.11018T>C (p.Phe3673Ser)
|
rs147707402
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_016327.3(UPB1):c.105-2A>G
|
rs138081800
|
0.00010
|
NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln)
|
rs545959971
|
0.00010
|
NM_024919.6(FRMD1):c.508G>A (p.Val170Met)
|
rs199740559
|
0.00010
|
NM_173602.3(DIP2B):c.4483G>A (p.Val1495Met)
|
rs749017384
|
0.00010
|
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)
|
rs193922109
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp)
|
rs373336888
|
0.00009
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln)
|
rs538781815
|
0.00009
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser)
|
rs376489385
|
0.00009
|
NM_001378778.1(MPDZ):c.1894C>T (p.Arg632Cys)
|
rs755060398
|
0.00009
|
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro)
|
rs146256515
|
0.00009
|
NM_002693.3(POLG):c.460G>A (p.Ala154Thr)
|
rs753858440
|
0.00009
|
NM_006182.4(DDR2):c.508A>T (p.Thr170Ser)
|
rs201573606
|
0.00009
|
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter)
|
rs199651558
|
0.00009
|
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)
|
rs121909448
|
0.00009
|
NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp)
|
rs199906865
|
0.00009
|
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)
|
rs56010818
|
0.00008
|
NM_001163435.3(TBCK):c.1804G>A (p.Ala602Thr)
|
rs150221832
|
0.00008
|
NM_001171613.2(PREPL):c.1520C>A (p.Thr507Lys)
|
rs773867044
|
0.00008
|
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)
|
rs137853074
|
0.00008
|
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp)
|
rs371560228
|
0.00008
|
NM_016929.5(CLIC5):c.334A>G (p.Asn112Asp)
|
rs564438778
|
0.00008
|
NM_078470.6(COX15):c.532C>T (p.Arg178Cys)
|
rs192078749
|
0.00008
|
NM_000211.5(ITGB2):c.381C>T (p.Ile127=)
|
rs483352812
|
0.00007
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)
|
rs782553301
|
0.00007
|
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His)
|
rs150366975
|
0.00007
|
NM_001378778.1(MPDZ):c.2401G>T (p.Asp801Tyr)
|
rs758473798
|
0.00007
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)
|
rs368848049
|
0.00007
|
NM_173658.4(ZNF660):c.721C>T (p.Arg241Cys)
|
rs587776368
|
0.00007
|
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile)
|
rs373820739
|
0.00007
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
NM_000400.4(ERCC2):c.587G>A (p.Arg196Gln)
|
rs753293260
|
0.00006
|
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)
|
rs72555360
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000494.4(COL17A1):c.25C>T (p.Arg9Ter)
|
rs775196743
|
0.00006
|
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)
|
rs41464951
|
0.00006
|
NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys)
|
rs555068245
|
0.00006
|
NM_000789.4(ACE):c.2858G>A (p.Arg953Gln)
|
rs143507892
|
0.00006
|
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr)
|
rs141756749
|
0.00006
|
NM_001040092.3(ENPP2):c.2395C>T (p.Arg799Trp)
|
rs370024218
|
0.00006
|
NM_001077525.3(MTMR14):c.1144C>T (p.Arg382Trp)
|
rs757251437
|
0.00006
|
NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr)
|
rs201318038
|
0.00006
|
NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys)
|
rs755994602
|
0.00006
|
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val)
|
rs372631124
|
0.00006
|
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met)
|
rs770371904
|
0.00006
|
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser)
|
rs144021458
|
0.00006
|
NM_001174150.2(ARL13B):c.1073G>A (p.Arg358Gln)
|
rs369942016
|
0.00006
|
NM_001371727.1(GABRB2):c.1061G>A (p.Arg354His)
|
rs371217448
|
0.00006
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
NM_001414.4(EIF2B1):c.389A>G (p.Tyr130Cys)
|
rs754044114
|
0.00006
|
NM_001723.7(DST):c.7432C>T (p.Arg2478Ter)
|
rs767292450
|
0.00006
|
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)
|
rs769795690
|
0.00006
|
NM_002103.5(GYS1):c.162_163del (p.Asp56fs)
|
rs587777375
|
0.00006
|
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter)
|
rs17854600
|
0.00006
|
NM_002427.4(MMP13):c.1415_1416del (p.Ter472CysextTer?)
|
rs781838470
|
0.00006
|
NM_002451.4(MTAP):c.572C>T (p.Ala191Val)
|
rs200708704
|
0.00006
|
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr)
|
rs578145610
|
0.00006
|
NM_002663.5(PLD2):c.2447G>A (p.Arg816Gln)
|
rs774247595
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)
|
rs202069201
|
0.00006
|
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys)
|
rs756541797
|
0.00006
|
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)
|
rs763348222
|
0.00006
|
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys)
|
rs147066269
|
0.00006
|
NM_006766.5(KAT6A):c.2983G>A (p.Glu995Lys)
|
rs779315883
|
0.00006
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met)
|
rs199645515
|
0.00006
|
NM_016615.5(SLC6A13):c.1424G>A (p.Arg475His)
|
rs139777154
|
0.00006
|
NM_017882.3(CLN6):c.297+113G>C
|
rs553192210
|
0.00006
|
NM_018006.5(TRMU):c.1154G>A (p.Arg385Gln)
|
rs373471059
|
0.00006
|
NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu)
|
rs753355529
|
0.00006
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
NM_152722.5(HEPACAM):c.128T>A (p.Ile43Asn)
|
rs781030435
|
0.00006
|
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter)
|
rs148182439
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr)
|
rs202121741
|
0.00006
|
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp)
|
rs367734857
|
0.00006
|
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln)
|
rs148337492
|
0.00006
|
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg)
|
rs141422170
|
0.00005
|
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met)
|
rs368594655
|
0.00005
|
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile)
|
rs758673796
|
0.00005
|
NM_001080478.3(LRRC14B):c.1189G>A (p.Gly397Arg)
|
rs199834750
|
0.00005
|
NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys)
|
rs121434272
|
0.00005
|
NM_001135998.3(NDUFB11):c.359G>A (p.Arg120His)
|
rs782753177
|
0.00005
|
NM_001256545.2(MEGF10):c.2330G>A (p.Arg777His)
|
rs565304206
|
0.00005
|
NM_001267550.2(TTN):c.1800+1G>A
|
rs397517497
|
0.00005
|
NM_001365536.1(SCN9A):c.1135A>G (p.Met379Val)
|
rs544004654
|
0.00005
|
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)
|
rs121912886
|
0.00005
|
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His)
|
rs761191746
|
0.00005
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)
|
rs749760185
|
0.00005
|
NM_004563.4(PCK2):c.577C>T (p.Arg193Ter)
|
rs753706965
|
0.00005
|
NM_004958.4(MTOR):c.743C>T (p.Thr248Ile)
|
rs377679898
|
0.00005
|
NM_005589.4(ALDH6A1):c.1156C>T (p.Arg386Ter)
|
rs781767219
|
0.00005
|
NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln)
|
rs104895051
|
0.00005
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
NM_015346.4(ZFYVE26):c.4402G>A (p.Val1468Met)
|
rs148925506
|
0.00005
|
NM_015443.4(KANSL1):c.889C>T (p.Arg297Cys)
|
rs772236084
|
0.00005
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln)
|
rs756811670
|
0.00005
|
NM_020717.5(SHROOM4):c.3071T>C (p.Leu1024Pro)
|
rs1557249087
|
0.00005
|
NM_020928.2(ZSWIM6):c.2881A>G (p.Ser961Gly)
|
rs745988643
|
0.00005
|
NM_020964.3(EPG5):c.2373C>T (p.Asp791=)
|
rs552419530
|
0.00005
|
NM_032608.7(MYO18B):c.4058G>A (p.Arg1353His)
|
rs532777099
|
0.00005
|
NM_032833.5(PPP1R15B):c.25C>G (p.Arg9Gly)
|
rs759915160
|
0.00005
|
NM_170707.4(LMNA):c.329G>A (p.Arg110His)
|
rs556237236
|
0.00005
|
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)
|
rs376824528
|
0.00004
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
|
rs138626345
|
0.00004
|
NM_000211.5(ITGB2):c.897+1G>A
|
rs201752283
|
0.00004
|
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val)
|
rs149366993
|
0.00004
|
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg)
|
rs750628677
|
0.00004
|
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys)
|
rs560471003
|
0.00004
|
NM_000327.4(ROM1):c.859C>T (p.Arg287Trp)
|
rs768652143
|
0.00004
|
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter)
|
rs151235136
|
0.00004
|
NM_000441.2(SLC26A4):c.1263+1841G>A
|
rs771059036
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
|
rs373240866
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000751.3(CHRND):c.988G>A (p.Val330Met)
|
rs773972915
|
0.00004
|
NM_001024630.4(RUNX2):c.1379C>T (p.Pro460Leu)
|
rs768473049
|
0.00004
|
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu)
|
rs751657066
|
0.00004
|
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)
|
rs74315438
|
0.00004
|
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala)
|
rs755371528
|
0.00004
|
NM_001171.6(ABCC6):c.790C>T (p.Arg264Trp)
|
rs376409933
|
0.00004
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)
|
rs387906769
|
0.00004
|
NM_001358263.1(HK1):c.4G>A (p.Gly2Arg)
|
rs766565453
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_001374385.1(ATP8B1):c.530C>T (p.Thr177Met)
|
rs369011228
|
0.00004
|
NM_001374675.1(HSF4):c.426_443dup (p.Ala145_Gln150dup)
|
rs760351849
|
0.00004
|
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter)
|
rs745308973
|
0.00004
|
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln)
|
rs769236847
|
0.00004
|
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)
|
rs764129993
|
0.00004
|
NM_001849.4(COL6A2):c.1817-8C>A
|
rs750444649
|
0.00004
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_001982.4(ERBB3):c.2241G>C (p.Lys747Asn)
|
rs760414488
|
0.00004
|
NM_002454.3(MTRR):c.1165G>A (p.Val389Met)
|
rs774333382
|
0.00004
|
NM_002561.4(P2RX5):c.904C>T (p.Arg302Ter)
|
rs140129051
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)
|
rs72552732
|
0.00004
|
NM_003602.5(FKBP6):c.101G>A (p.Gly34Glu)
|
rs782285165
|
0.00004
|
NM_004278.4(PIGL):c.263G>A (p.Arg88His)
|
rs755380500
|
0.00004
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
|
rs969369250
|
0.00004
|
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser)
|
rs371816961
|
0.00004
|
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs)
|
rs1553241079
|
0.00004
|
NM_005529.7(HSPG2):c.6634G>A (p.Asp2212Asn)
|
rs780545355
|
0.00004
|
NM_005891.3(ACAT2):c.526G>A (p.Glu176Lys)
|
rs371307389
|
0.00004
|
NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr)
|
rs121434302
|
0.00004
|
NM_007103.4(NDUFV1):c.670C>T (p.Arg224Cys)
|
rs138583785
|
0.00004
|
NM_007118.4(TRIO):c.2276C>T (p.Thr759Met)
|
rs201514384
|
0.00004
|
NM_007325.5(GRIA3):c.813G>C (p.Gln271His)
|
rs756316953
|
0.00004
|
NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn)
|
rs553863381
|
0.00004
|
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn)
|
rs779971307
|
0.00004
|
NM_015488.5(PNKD):c.237-16374C>T
|
rs201323830
|
0.00004
|
NM_015721.3(GEMIN4):c.3094C>T (p.Gln1032Ter)
|
rs574891003
|
0.00004
|
NM_016580.4(PCDH12):c.2734C>T (p.Arg912Trp)
|
rs574087581
|
0.00004
|
NM_017415.3(KLHL3):c.1694C>T (p.Thr565Met)
|
rs375871642
|
0.00004
|
NM_017636.4(TRPM4):c.1150+1G>A
|
rs200132598
|
0.00004
|
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu)
|
rs1422686570
|
0.00004
|
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=)
|
rs377320336
|
0.00004
|
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His)
|
rs373365707
|
0.00004
|
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys)
|
rs1156439417
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)
|
rs145873635
|
0.00004
|
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)
|
rs139075013
|
0.00004
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00003
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
NM_000094.4(COL7A1):c.682+1G>A
|
rs775288140
|
0.00003
|
NM_000147.5(FUCA1):c.923G>A (p.Arg308His)
|
rs372537257
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
NM_000268.4(NF2):c.1231C>T (p.Arg411Cys)
|
rs773296925
|
0.00003
|
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met)
|
rs149331388
|
0.00003
|
NM_000365.6(TPI1):c.617G>A (p.Arg206His)
|
rs782417309
|
0.00003
|
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
|
rs118203400
|
0.00003
|
NM_000387.6(SLC25A20):c.425C>G (p.Ala142Gly)
|
rs759262977
|
0.00003
|
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)
|
rs375640462
|
0.00003
|
NM_000484.4(APP):c.2125G>A (p.Gly709Ser)
|
rs201269325
|
0.00003
|
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)
|
rs74315459
|
0.00003
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_000836.4(GRIN2D):c.2308G>A (p.Asp770Asn)
|
rs775962298
|
0.00003
|
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val)
|
rs202044898
|
0.00003
|
NM_001010867.4(IBA57):c.305T>G (p.Val102Gly)
|
rs759005478
|
0.00003
|
NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met)
|
rs577802449
|
0.00003
|
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter)
|
rs765669597
|
0.00003
|
NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro)
|
rs781814342
|
0.00003
|
NM_001110792.2(MECP2):c.414-3C>T
|
rs267608465
|
0.00003
|
NM_001114748.2(TMEM240):c.343G>A (p.Val115Met)
|
rs1045410944
|
0.00003
|
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His)
|
rs769506340
|
0.00003
|
NM_001171613.2(PREPL):c.1420G>A (p.Val474Met)
|
rs780954540
|
0.00003
|
NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr)
|
rs748362724
|
0.00003
|
NM_001193313.2(SUGCT):c.1090-65315C>T
|
rs201987458
|
0.00003
|
NM_001303052.2(MYT1L):c.2443G>A (p.Asp815Asn)
|
rs773930139
|
0.00003
|
NM_001348768.2(HECW2):c.-35-1G>A
|
rs755596278
|
0.00003
|
NM_001349206.2(LPIN1):c.2365C>A (p.Leu789Met)
|
rs542760055
|
0.00003
|
NM_001363711.2(DUOX2):c.513+1G>C
|
rs752635135
|
0.00003
|
NM_001371986.1(UNC80):c.9448C>T (p.Arg3150Cys)
|
rs868379708
|
0.00003
|
NM_001378183.1(PIEZO2):c.4148C>T (p.Thr1383Met)
|
rs777349822
|
0.00003
|
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys)
|
rs751808973
|
0.00003
|
NM_001378778.1(MPDZ):c.3741+6C>T
|
rs368808895
|
0.00003
|
NM_001379500.1(COL18A1):c.107-11479C>A
|
rs764709181
|
0.00003
|
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly)
|
rs201629827
|
0.00003
|
NM_001382567.1(STIM1):c.1634+2159A>T
|
rs772759124
|
0.00003
|
NM_001609.4(ACADSB):c.1128+3A>T
|
rs760423996
|
0.00003
|
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu)
|
rs920672041
|
0.00003
|
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)
|
rs752201545
|
0.00003
|
NM_002291.3(LAMB1):c.4133T>A (p.Leu1378His)
|
rs769712243
|
0.00003
|
NM_003383.5(VLDLR):c.692G>A (p.Arg231His)
|
rs767529669
|
0.00003
|
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp)
|
rs754920304
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)
|
rs1235556906
|
0.00003
|
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)
|
rs201337277
|
0.00003
|
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)
|
rs760771706
|
0.00003
|
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys)
|
rs766896575
|
0.00003
|
NM_005879.3(TRAIP):c.1306C>T (p.Arg436Cys)
|
rs536675100
|
0.00003
|
NM_006019.4(TCIRG1):c.1052G>A (p.Arg351His)
|
rs758621844
|
0.00003
|
NM_013275.6(ANKRD11):c.541G>A (p.Ala181Thr)
|
rs777123332
|
0.00003
|
NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr)
|
rs780911321
|
0.00003
|
NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile)
|
rs1211858750
|
0.00003
|
NM_014813.3(LRIG2):c.256C>T (p.Arg86Trp)
|
rs554758747
|
0.00003
|
NM_014846.4(WASHC5):c.2327G>A (p.Arg776His)
|
rs750463169
|
0.00003
|
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys)
|
rs371984550
|
0.00003
|
NM_016213.5(TRIP4):c.832C>T (p.Arg278Ter)
|
rs761865592
|
0.00003
|
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys)
|
rs909339162
|
0.00003
|
NM_017433.5(MYO3A):c.3155G>A (p.Arg1052Gln)
|
rs267602452
|
0.00003
|
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter)
|
rs572380130
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_018489.3(ASH1L):c.2333G>A (p.Arg778Gln)
|
rs373475579
|
0.00003
|
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)
|
rs121908321
|
0.00003
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_020738.4(KIDINS220):c.299G>A (p.Arg100His)
|
rs368435770
|
0.00003
|
NM_020987.5(ANK3):c.4723C>T (p.Arg1575Trp)
|
rs565896400
|
0.00003
|
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met)
|
rs762772276
|
0.00003
|
NM_022716.4(PRRX1):c.343C>T (p.Arg115Trp)
|
rs756620309
|
0.00003
|
NM_024027.5(COLEC11):c.433G>A (p.Gly145Ser)
|
rs748736842
|
0.00003
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
NM_030665.4(RAI1):c.1787G>A (p.Arg596Gln)
|
rs200001615
|
0.00003
|
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp)
|
rs786203170
|
0.00003
|
NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp)
|
rs140470862
|
0.00003
|
NM_032806.6(POMGNT2):c.238C>T (p.Arg80Cys)
|
rs780388475
|
0.00003
|
NM_033266.4(ERN2):c.2602C>T (p.Arg868Ter)
|
rs755206735
|
0.00003
|
NM_033629.6(TREX1):c.-26-1G>A
|
rs749323787
|
0.00003
|
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys)
|
rs766766673
|
0.00003
|
NM_138691.3(TMC1):c.236+1G>A
|
rs775428246
|
0.00003
|
NM_145207.3(AFG2A):c.2456T>C (p.Val819Ala)
|
rs149604630
|
0.00003
|
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)
|
rs776830520
|
0.00003
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu)
|
rs1221499782
|
0.00003
|
NM_181882.3(PRX):c.4318G>A (p.Val1440Met)
|
rs138437458
|
0.00003
|
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met)
|
rs760970028
|
0.00003
|
NM_198129.4(LAMA3):c.4558G>T (p.Ala1520Ser)
|
rs763626668
|
0.00003
|
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn)
|
rs769301934
|
0.00003
|
NM_198994.3(TGM6):c.674T>G (p.Val225Gly)
|
rs1461093480
|
0.00003
|
NM_201384.3(PLEC):c.5549C>T (p.Thr1850Met)
|
rs534267486
|
0.00003
|
NM_207391.3(RGS9BP):c.365C>G (p.Ser122Cys)
|
rs749927570
|
0.00003
|
NM_000038.6(APC):c.3437G>A (p.Arg1146His)
|
rs763486328
|
0.00002
|
NM_000044.6(AR):c.1513C>A (p.Pro505Thr)
|
rs764238988
|
0.00002
|
NM_000137.4(FAH):c.709C>T (p.Arg237Ter)
|
rs769550316
|
0.00002
|
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His)
|
rs750836033
|
0.00002
|
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)
|
rs918627824
|
0.00002
|
NM_000396.4(CTSK):c.578G>A (p.Arg193Gln)
|
rs781168584
|
0.00002
|
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe)
|
rs746616691
|
0.00002
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
NM_000520.6(HEXA):c.571-1G>T
|
rs185429231
|
0.00002
|
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)
|
rs1057515879
|
0.00002
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
NM_000536.4(RAG2):c.218G>A (p.Arg73His)
|
rs762407838
|
0.00002
|
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp)
|
rs779733902
|
0.00002
|
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His)
|
rs140152019
|
0.00002
|
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp)
|
rs1057518970
|
0.00002
|
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp)
|
rs121912699
|
0.00002
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00002
|
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln)
|
rs776356158
|
0.00002
|
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu)
|
rs757316102
|
0.00002
|
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter)
|
rs750355652
|
0.00002
|
NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg)
|
rs766502252
|
0.00002
|
NM_001055.4(SULT1A1):c.214C>T (p.Arg72Ter)
|
rs141343888
|
0.00002
|
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr)
|
rs753709447
|
0.00002
|
NM_001080432.3(FTO):c.263A>G (p.Lys88Arg)
|
rs1410999299
|
0.00002
|
NM_001101362.3(KBTBD13):c.543C>G (p.Asp181Glu)
|
rs760224608
|
0.00002
|
NM_001160305.4(SETD6):c.355C>T (p.Gln119Ter)
|
rs771760548
|
0.00002
|
NM_001164508.2(NEB):c.9125G>A (p.Cys3042Tyr)
|
rs779603526
|
0.00002
|
NM_001199753.2(CPT1C):c.899G>A (p.Arg300His)
|
rs753309074
|
0.00002
|
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile)
|
rs782458308
|
0.00002
|
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys)
|
rs761386688
|
0.00002
|
NM_001349338.3(FOXP1):c.181-17916C>T
|
rs1257120372
|
0.00002
|
NM_001378183.1(PIEZO2):c.7483C>T (p.Arg2495Trp)
|
rs757200280
|
0.00002
|
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter)
|
rs896947430
|
0.00002
|
NM_001429.4(EP300):c.6437C>A (p.Pro2146His)
|
rs745528077
|
0.00002
|
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser)
|
rs747585517
|
0.00002
|
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
NM_002386.4(MC1R):c.496dup (p.Ala166fs)
|
rs780875127
|
0.00002
|
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del)
|
rs754586219
|
0.00002
|
NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys)
|
rs760043525
|
0.00002
|
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met)
|
rs764274123
|
0.00002
|
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)
|
rs386134210
|
0.00002
|
NM_003482.4(KMT2D):c.5549G>A (p.Gly1850Asp)
|
rs778359468
|
0.00002
|
NM_004044.7(ATIC):c.548C>A (p.Ala183Glu)
|
rs761526509
|
0.00002
|
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr)
|
rs756011865
|
0.00002
|
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)
|
rs386833933
|
0.00002
|
NM_005120.3(MED12):c.6267+166G>A
|
rs1247198443
|
0.00002
|
NM_005559.4(LAMA1):c.3052C>G (p.Pro1018Ala)
|
rs750460729
|
0.00002
|
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp)
|
rs759260599
|
0.00002
|
NM_005660.3(SLC35A2):c.485G>A (p.Arg162His)
|
rs782305321
|
0.00002
|
NM_005677.4(COLQ):c.484G>T (p.Gly162Cys)
|
rs376385207
|
0.00002
|
NM_005915.6(MCM6):c.1654A>G (p.Ile552Val)
|
rs776037433
|
0.00002
|
NM_005932.4(MIPEP):c.1679G>A (p.Arg560His)
|
rs753252850
|
0.00002
|
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His)
|
rs769953411
|
0.00002
|
NM_005993.5(TBCD):c.3126G>A (p.Pro1042=)
|
rs369672739
|
0.00002
|
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys)
|
rs375809635
|
0.00002
|
NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile)
|
rs199732997
|
0.00002
|
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile)
|
rs1373473541
|
0.00002
|
NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His)
|
rs201138924
|
0.00002
|
NM_007194.4(CHEK2):c.1462-20T>C
|
rs747767986
|
0.00002
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)
|
rs563130304
|
0.00002
|
NM_012216.4(MID2):c.491G>A (p.Arg164His)
|
rs778859599
|
0.00002
|
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)
|
rs538244011
|
0.00002
|
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs)
|
rs773574448
|
0.00002
|
NM_013246.3(CLCF1):c.163C>T (p.Arg55Cys)
|
rs560558450
|
0.00002
|
NM_014049.5(ACAD9):c.452A>G (p.Lys151Arg)
|
rs774429198
|
0.00002
|
NM_014874.4(MFN2):c.334G>A (p.Val112Met)
|
rs757937208
|
0.00002
|
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)
|
rs869320625
|
0.00002
|
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp)
|
rs267598016
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly)
|
rs769053835
|
0.00002
|
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser)
|
rs770738115
|
0.00002
|
NM_015559.3(SETBP1):c.3055C>T (p.Arg1019Cys)
|
rs767260608
|
0.00002
|
NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser)
|
rs761385178
|
0.00002
|
NM_017570.5(OPLAH):c.2230C>T (p.Arg744Cys)
|
rs371837669
|
0.00002
|
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys)
|
rs375292909
|
0.00002
|
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn)
|
rs752161415
|
0.00002
|
NM_018896.5(CACNA1G):c.3167C>T (p.Thr1056Met)
|
rs555798090
|
0.00002
|
NM_018896.5(CACNA1G):c.3200G>A (p.Arg1067His)
|
rs369751310
|
0.00002
|
NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln)
|
rs781240948
|
0.00002
|
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys)
|
rs767150990
|
0.00002
|
NM_020365.5(EIF2B3):c.1277T>C (p.Ile426Thr)
|
rs762959486
|
0.00002
|
NM_020442.6(VARS2):c.104A>G (p.His35Arg)
|
rs199534441
|
0.00002
|
NM_020717.5(SHROOM4):c.3955G>A (p.Glu1319Lys)
|
rs782659789
|
0.00002
|
NM_020754.4(ARHGAP31):c.4139C>T (p.Thr1380Ile)
|
rs9852894
|
0.00002
|
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp)
|
rs750994724
|
0.00002
|
NM_022082.4(SLC17A9):c.931C>T (p.Arg311Trp)
|
rs368854989
|
0.00002
|
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)
|
rs547034667
|
0.00002
|
NM_025152.3(NUBPL):c.625A>T (p.Thr209Ser)
|
rs554414788
|
0.00002
|
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)
|
rs121917882
|
0.00002
|
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln)
|
rs768571931
|
0.00002
|
NM_138701.4(MPLKIP):c.124C>T (p.Arg42Ter)
|
rs779644594
|
0.00002
|
NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile)
|
rs778910338
|
0.00002
|
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter)
|
rs760752847
|
0.00002
|
NM_178510.2(ANKK1):c.766G>A (p.Glu256Lys)
|
rs780936187
|
0.00002
|
NM_182894.3(VSX2):c.679C>T (p.Arg227Trp)
|
rs121912545
|
0.00002
|
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)
|
rs199708211
|
0.00002
|
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)
|
rs549779256
|
0.00002
|
NM_198576.4(AGRN):c.2338G>A (p.Ala780Thr)
|
rs540467706
|
0.00002
|
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)
|
rs772690312
|
0.00002
|
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)
|
rs387906950
|
0.00001
|
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)
|
rs120074147
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000026.4(ADSL):c.1337C>A (p.Pro446His)
|
rs755964863
|
0.00001
|
NM_000027.4(AGA):c.115G>A (p.Ala39Thr)
|
rs763326444
|
0.00001
|
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)
|
rs782546330
|
0.00001
|
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)
|
rs104893944
|
0.00001
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000069.3(CACNA1S):c.2327C>A (p.Ala776Asp)
|
rs1428214499
|
0.00001
|
NM_000070.3(CAPN3):c.490C>T (p.His164Tyr)
|
rs1595819813
|
0.00001
|
NM_000098.3(CPT2):c.499C>T (p.Arg167Trp)
|
rs780940242
|
0.00001
|
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)
|
rs137852360
|
0.00001
|
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)
|
rs757041827
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
NM_000159.4(GCDH):c.826G>T (p.Val276Leu)
|
rs763300541
|
0.00001
|
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile)
|
rs763294577
|
0.00001
|
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys)
|
rs1426533412
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val)
|
rs121964977
|
0.00001
|
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)
|
rs748798324
|
0.00001
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
NM_000188.3(HK1):c.1393G>A (p.Glu465Lys)
|
rs780576140
|
0.00001
|
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)
|
rs137853341
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)
|
rs746776254
|
0.00001
|
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)
|
rs769531968
|
0.00001
|
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)
|
rs587779954
|
0.00001
|
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu)
|
rs575038087
|
0.00001
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)
|
rs782350886
|
0.00001
|
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)
|
rs782808261
|
0.00001
|
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His)
|
rs767273237
|
0.00001
|
NM_000270.4(PNP):c.410A>G (p.Asn137Ser)
|
rs766527065
|
0.00001
|
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile)
|
rs1555472064
|
0.00001
|
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp)
|
rs771186398
|
0.00001
|
NM_000310.4(PPT1):c.367G>A (p.Ala123Thr)
|
rs755565099
|
0.00001
|
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)
|
rs386833649
|
0.00001
|
NM_000316.3(PTH1R):c.440G>A (p.Arg147His)
|
rs576428067
|
0.00001
|
NM_000334.4(SCN4A):c.151G>A (p.Glu51Lys)
|
rs751390409
|
0.00001
|
NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr)
|
rs121912696
|
0.00001
|
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys)
|
rs121918061
|
0.00001
|
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)
|
rs1471156821
|
0.00001
|
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)
|
rs119455956
|
0.00001
|
NM_000400.4(ERCC2):c.1195C>T (p.Leu399Phe)
|
rs551211003
|
0.00001
|
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)
|
rs72555372
|
0.00001
|
NM_000404.4(GLB1):c.443G>A (p.Arg148His)
|
rs745864233
|
0.00001
|
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His)
|
rs578183193
|
0.00001
|
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp)
|
rs139607673
|
0.00001
|
NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter)
|
rs770564267
|
0.00001
|
NM_000487.6(ARSA):c.245G>A (p.Arg82Gln)
|
rs769892461
|
0.00001
|
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)
|
rs397508606
|
0.00001
|
NM_000492.4(CFTR):c.416A>C (p.His139Pro)
|
rs76371115
|
0.00001
|
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)
|
rs749578474
|
0.00001
|
NM_000518.5(HBB):c.48G>A (p.Trp16Ter)
|
rs34716011
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln)
|
rs762278203
|
0.00001
|
NM_000639.3(FASLG):c.349-45G>T
|
rs778330321
|
0.00001
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter)
|
rs762199542
|
0.00001
|
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile)
|
rs766023530
|
0.00001
|
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu)
|
rs1064796396
|
0.00001
|
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln)
|
rs779199533
|
0.00001
|
NM_000875.5(IGF1R):c.4055G>T (p.Gly1352Val)
|
rs759808066
|
0.00001
|
NM_001001344.3(ATP2B3):c.3284G>A (p.Arg1095Gln)
|
rs782067205
|
0.00001
|
NM_001003841.3(SLC6A19):c.1888G>A (p.Gly630Arg)
|
rs1298382357
|
0.00001
|
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp)
|
rs1298056442
|
0.00001
|
NM_001032382.2(PQBP1):c.778C>T (p.Arg260Ter)
|
rs781987043
|
0.00001
|
NM_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys)
|
rs1565475355
|
0.00001
|
NM_001039958.2(MESP2):c.583G>T (p.Gly195Ter)
|
rs1183901221
|
0.00001
|
NM_001040142.2(SCN2A):c.1837G>A (p.Val613Met)
|
rs769069833
|
0.00001
|
NM_001040716.2(PC):c.1832C>T (p.Thr611Met)
|
rs757071897
|
0.00001
|
NM_001080414.4(CCDC88C):c.2554G>C (p.Asp852His)
|
rs777136693
|
0.00001
|
NM_001082.5(CYP4F2):c.1250G>T (p.Gly417Val)
|
rs780094643
|
0.00001
|
NM_001098.3(ACO2):c.1550C>T (p.Thr517Met)
|
rs540169523
|
0.00001
|
NM_001104631.2(PDE4D):c.2179C>T (p.Arg727Trp)
|
rs759832724
|
0.00001
|
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp)
|
rs782287086
|
0.00001
|
NM_001110556.2(FLNA):c.5240C>T (p.Ser1747Leu)
|
rs1557176526
|
0.00001
|
NM_001110556.2(FLNA):c.546G>C (p.Gln182His)
|
rs1557179648
|
0.00001
|
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)
|
rs374936130
|
0.00001
|
NM_001130987.2(DYSF):c.2864+1G>A
|
rs199954546
|
0.00001
|
NM_001137601.3(ZBTB42):c.1031C>T (p.Ser344Leu)
|
rs1368607213
|
0.00001
|
NM_001139.3(ALOX12B):c.353-2A>G
|
rs775524204
|
0.00001
|
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser)
|
rs887619644
|
0.00001
|
NM_001159699.2(FHL1):c.499G>A (p.Val167Met)
|
rs1332573754
|
0.00001
|
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile)
|
rs770244296
|
0.00001
|
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)
|
rs370050799
|
0.00001
|
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)
|
rs1218073575
|
0.00001
|
NM_001174150.2(ARL13B):c.1133C>T (p.Pro378Leu)
|
rs1385061611
|
0.00001
|
NM_001184.4(ATR):c.3152G>A (p.Arg1051His)
|
rs770645649
|
0.00001
|
NM_001194998.2(CEP152):c.3834A>T (p.Lys1278Asn)
|
rs760130069
|
0.00001
|
NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg)
|
rs757312834
|
0.00001
|
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)
|
rs541024038
|
0.00001
|
NM_001244008.2(KIF1A):c.2570G>A (p.Arg857Gln)
|
rs1195594601
|
0.00001
|
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
|
rs770073084
|
0.00001
|
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)
|
rs757082154
|
0.00001
|
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His)
|
rs775496863
|
0.00001
|
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp)
|
rs1203435642
|
0.00001
|
NM_001320752.2(STS):c.1111A>G (p.Ile371Val)
|
rs748174656
|
0.00001
|
NM_001330195.2(NRXN3):c.4442G>A (p.Arg1481Gln)
|
rs768341004
|
0.00001
|
NM_001348768.2(HECW2):c.2741C>T (p.Thr914Met)
|
rs375518920
|
0.00001
|
NM_001363118.2(SLC52A2):c.1289A>G (p.Tyr430Cys)
|
rs781873022
|
0.00001
|
NM_001365308.1(BMPER):c.1115A>G (p.Tyr372Cys)
|
rs1562728956
|
0.00001
|
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys)
|
rs763256222
|
0.00001
|
NM_001366102.1(TDRD12):c.2432G>A (p.Arg811Gln)
|
rs1262515590
|
0.00001
|
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser)
|
rs915830221
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001371928.1(AHDC1):c.3692C>T (p.Pro1231Leu)
|
rs559597076
|
0.00001
|
NM_001378183.1(PIEZO2):c.4367G>A (p.Ser1456Asn)
|
rs1568013762
|
0.00001
|
NM_001378183.1(PIEZO2):c.6164C>T (p.Thr2055Met)
|
rs1005911734
|
0.00001
|
NM_001378418.1(TCF20):c.278C>T (p.Ala93Val)
|
rs1921571494
|
0.00001
|
NM_001379081.2(FREM1):c.5249A>G (p.Tyr1750Cys)
|
rs762799389
|
0.00001
|
NM_001384125.1(BLTP1):c.439C>T (p.Arg147Cys)
|
rs779054376
|
0.00001
|
NM_001386298.1(CIC):c.998G>A (p.Arg333His)
|
rs1283116229
|
0.00001
|
NM_001393500.2(TOMT):c.439G>A (p.Gly147Ser)
|
rs529549122
|
0.00001
|
NM_001429.4(EP300):c.363G>C (p.Met121Ile)
|
rs757476470
|
0.00001
|
NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp)
|
rs753922163
|
0.00001
|
NM_001807.6(CEL):c.217+34C>T
|
rs778382071
|
0.00001
|
NM_001846.4(COL4A2):c.313G>A (p.Val105Met)
|
rs772439696
|
0.00001
|
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser)
|
rs745485695
|
0.00001
|
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr)
|
rs1258934082
|
0.00001
|
NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp)
|
rs1422176468
|
0.00001
|
NM_001854.4(COL11A1):c.3568T>C (p.Phe1190Leu)
|
rs1377819809
|
0.00001
|
NM_001918.5(DBT):c.902G>A (p.Arg301His)
|
rs770981889
|
0.00001
|
NM_002016.2(FLG):c.10324A>T (p.Arg3442Ter)
|
rs764094665
|
0.00001
|
NM_002150.3(HPD):c.75G>A (p.Trp25Ter)
|
rs367674632
|
0.00001
|
NM_002161.6(IARS1):c.1358G>A (p.Arg453His)
|
rs570962385
|
0.00001
|
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr)
|
rs544861971
|
0.00001
|
NM_002381.5(MATN3):c.664G>A (p.Val222Met)
|
rs753889985
|
0.00001
|
NM_002472.3(MYH8):c.1771T>C (p.Tyr591His)
|
rs760777722
|
0.00001
|
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)
|
rs747359752
|
0.00001
|
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr)
|
rs763066236
|
0.00001
|
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala)
|
rs1185410324
|
0.00001
|
NM_002693.3(POLG):c.13C>T (p.Leu5Phe)
|
rs761648850
|
0.00001
|
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)
|
rs764287987
|
0.00001
|
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)
|
rs769827124
|
0.00001
|
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)
|
rs776031396
|
0.00001
|
NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser)
|
rs1398859175
|
0.00001
|
NM_002929.3(GRK1):c.92G>A (p.Arg31Gln)
|
rs1243049516
|
0.00001
|
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val)
|
rs1404020990
|
0.00001
|
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile)
|
rs199869408
|
0.00001
|
NM_003041.4(SLC5A2):c.1075G>A (p.Val359Met)
|
rs1468390476
|
0.00001
|
NM_003124.5(SPR):c.655C>T (p.Arg219Ter)
|
rs779204655
|
0.00001
|
NM_003165.6(STXBP1):c.1756G>A (p.Asp586Asn)
|
rs746172968
|
0.00001
|
NM_003384.3(VRK1):c.398G>A (p.Arg133His)
|
rs758978677
|
0.00001
|
NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg)
|
rs371231725
|
0.00001
|
NM_003560.4(PLA2G6):c.1427+1G>A
|
rs750939090
|
0.00001
|
NM_004006.3(DMD):c.1000T>A (p.Leu334Met)
|
rs1280415176
|
0.00001
|
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val)
|
rs773420384
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met)
|
rs782205045
|
0.00001
|
NM_004204.5(PIGQ):c.1345G>A (p.Gly449Arg)
|
rs1361495767
|
0.00001
|
NM_004268.5(MED17):c.1898G>A (p.Arg633Gln)
|
rs1356392449
|
0.00001
|
NM_004273.5(CHST3):c.1312C>T (p.Gln438Ter)
|
rs1416783446
|
0.00001
|
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile)
|
rs755052076
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser)
|
rs766458058
|
0.00001
|
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)
|
rs1013873051
|
0.00001
|
NM_004409.5(DMPK):c.1697C>T (p.Pro566Leu)
|
rs536277584
|
0.00001
|
NM_004409.5(DMPK):c.1837G>T (p.Ala613Ser)
|
rs1003871860
|
0.00001
|
NM_004493.3(HSD17B10):c.253G>A (p.Val85Met)
|
rs1211736877
|
0.00001
|
NM_004526.4(MCM2):c.1624C>T (p.Arg542Ter)
|
rs755835919
|
0.00001
|
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln)
|
rs771783839
|
0.00001
|
NM_004667.6(HERC2):c.6262G>A (p.Glu2088Lys)
|
rs370318976
|
0.00001
|
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter)
|
rs780030221
|
0.00001
|
NM_004736.4(XPR1):c.1954G>A (p.Val652Ile)
|
rs748681314
|
0.00001
|
NM_004820.5(CYP7B1):c.955C>T (p.Arg319Cys)
|
rs1410531135
|
0.00001
|
NM_004947.5(DOCK3):c.1153C>T (p.Arg385Cys)
|
rs587776362
|
0.00001
|
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp)
|
rs756646293
|
0.00001
|
NM_005120.3(MED12):c.3210-27C>T
|
rs752463122
|
0.00001
|
NM_005198.5(CHKB):c.138G>T (p.Glu46Asp)
|
rs752292240
|
0.00001
|
NM_005216.5(DDOST):c.645G>C (p.Gln215His)
|
rs867045420
|
0.00001
|
NM_005231.4(CTTN):c.*325_*326del
|
rs758070018
|
0.00001
|
NM_005529.7(HSPG2):c.1190G>A (p.Arg397Gln)
|
rs558798136
|
0.00001
|
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro)
|
rs759336535
|
0.00001
|
NM_005675.6(DGCR6):c.539T>C (p.Leu180Pro)
|
rs770547541
|
0.00001
|
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter)
|
rs770045897
|
0.00001
|
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile)
|
rs568371168
|
0.00001
|
NM_005787.6(ALG3):c.165C>T (p.Gly55=)
|
rs387906273
|
0.00001
|
NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp)
|
rs138808270
|
0.00001
|
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)
|
rs777785526
|
0.00001
|
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln)
|
rs1131691266
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys)
|
rs1448699021
|
0.00001
|
NM_006308.3(HSPB3):c.408T>A (p.Asp136Glu)
|
rs746502208
|
0.00001
|
NM_006312.6(NCOR2):c.5312G>A (p.Arg1771His)
|
rs774775666
|
0.00001
|
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)
|
rs527236084
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)
|
rs769256568
|
0.00001
|
NM_006623.4(PHGDH):c.797C>T (p.Pro266Leu)
|
rs775936961
|
0.00001
|
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)
|
rs776765317
|
0.00001
|
NM_006721.4(ADK):c.71A>T (p.Asn24Ile)
|
rs1271395440
|
0.00001
|
NM_006904.7(PRKDC):c.6952G>A (p.Ala2318Thr)
|
rs779732085
|
0.00001
|
NM_006918.5(SC5D):c.223C>T (p.Arg75Ter)
|
rs1313359281
|
0.00001
|
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)
|
rs753491527
|
0.00001
|
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser)
|
rs369223840
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu)
|
rs797045891
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_012265.3(RHBDD3):c.238C>T (p.Gln80Ter)
|
rs1446100794
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)
|
rs587777167
|
0.00001
|
NM_012470.4(TNPO3):c.2768G>A (p.Arg923Gln)
|
rs750548861
|
0.00001
|
NM_014008.5(CCDC22):c.197G>A (p.Arg66His)
|
rs199545573
|
0.00001
|
NM_014191.4(SCN8A):c.618T>A (p.Tyr206Ter)
|
rs1490133991
|
0.00001
|
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met)
|
rs372548739
|
0.00001
|
NM_014270.5(SLC7A9):c.605-3C>A
|
rs749913021
|
0.00001
|
NM_014423.4(AFF4):c.1268_1270dup (p.Asn423_Ser424insTyr)
|
rs764600828
|
0.00001
|
NM_014425.5(INVS):c.962A>G (p.Glu321Gly)
|
rs749655348
|
0.00001
|
NM_014727.3(KMT2B):c.1337C>T (p.Pro446Leu)
|
rs769921695
|
0.00001
|
NM_014989.7(RIMS1):c.1679-20563C>T
|
rs891525901
|
0.00001
|
NM_015102.5(NPHP4):c.2437G>A (p.Val813Ile)
|
rs781705623
|
0.00001
|
NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln)
|
rs1263803925
|
0.00001
|
NM_015166.4(MLC1):c.177+1G>T
|
rs1374593138
|
0.00001
|
NM_015214.3(DDHD2):c.334C>T (p.Arg112Ter)
|
rs755267771
|
0.00001
|
NM_015214.3(DDHD2):c.694C>T (p.Arg232Ter)
|
rs1249841130
|
0.00001
|
NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys)
|
rs774307423
|
0.00001
|
NM_015335.5(MED13L):c.3518G>T (p.Gly1173Val)
|
rs773730403
|
0.00001
|
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)
|
rs397514487
|
0.00001
|
NM_015443.4(KANSL1):c.881T>C (p.Ile294Thr)
|
rs747048362
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)
|
rs121918547
|
0.00001
|
NM_015884.4(MBTPS2):c.529A>C (p.Ile177Leu)
|
rs766760741
|
0.00001
|
NM_015978.3(TNNI3K):c.1051G>A (p.Gly351Ser)
|
rs777466193
|
0.00001
|
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe)
|
rs759274620
|
0.00001
|
NM_016035.5(COQ4):c.458C>T (p.Ala153Val)
|
rs757173567
|
0.00001
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)
|
rs770654508
|
0.00001
|
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)
|
rs773037813
|
0.00001
|
NM_016169.4(SUFU):c.325G>A (p.Gly109Arg)
|
rs192025919
|
0.00001
|
NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr)
|
rs1170556084
|
0.00001
|
NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met)
|
rs368088727
|
0.00001
|
NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg)
|
rs1577598082
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_018010.4(IFT57):c.1168A>G (p.Met390Val)
|
rs1168796234
|
0.00001
|
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln)
|
rs764854489
|
0.00001
|
NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln)
|
rs1477524771
|
0.00001
|
NM_018489.3(ASH1L):c.8156G>A (p.Arg2719His)
|
rs375304383
|
0.00001
|
NM_018718.3(CEP41):c.678C>T (p.Asp226=)
|
rs545406161
|
0.00001
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149
|
0.00001
|
NM_018979.4(WNK1):c.5068C>G (p.Pro1690Ala)
|
rs771546256
|
0.00001
|
NM_019023.5(PRMT7):c.454G>A (p.Gly152Arg)
|
rs200195216
|
0.00001
|
NM_019032.6(ADAMTSL4):c.1936G>A (p.Val646Met)
|
rs765795619
|
0.00001
|
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)
|
rs121964927
|
0.00001
|
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn)
|
rs774565207
|
0.00001
|
NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys)
|
rs948280864
|
0.00001
|
NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys)
|
rs1335038702
|
0.00001
|
NM_020461.4(TUBGCP6):c.1066G>A (p.Val356Met)
|
rs773504995
|
0.00001
|
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)
|
rs1443883930
|
0.00001
|
NM_020771.4(HACE1):c.1396C>T (p.Gln466Ter)
|
rs1337798545
|
0.00001
|
NM_020944.3(GBA2):c.1285C>T (p.Arg429Trp)
|
rs748661440
|
0.00001
|
NM_021023.6(CFHR3):c.803G>T (p.Cys268Phe)
|
rs745503234
|
0.00001
|
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)
|
rs773618224
|
0.00001
|
NM_021926.4(ALX4):c.1192A>G (p.Met398Val)
|
rs1399189995
|
0.00001
|
NM_022167.4(XYLT2):c.341C>T (p.Pro114Leu)
|
rs754863487
|
0.00001
|
NM_022356.4(P3H1):c.462C>G (p.Phe154Leu)
|
rs1404923329
|
0.00001
|
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln)
|
rs769733603
|
0.00001
|
NM_022455.5(NSD1):c.34T>C (p.Cys12Arg)
|
rs143406017
|
0.00001
|
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg)
|
rs1555930118
|
0.00001
|
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu)
|
rs777173365
|
0.00001
|
NM_024301.5(FKRP):c.968G>A (p.Arg323His)
|
rs1349031936
|
0.00001
|
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)
|
rs387907040
|
0.00001
|
NM_024741.3(ZNF408):c.1708G>A (p.Glu570Lys)
|
rs767306062
|
0.00001
|
NM_025136.4(OPA3):c.214A>G (p.Asn72Asp)
|
rs1382779104
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NM_032119.4(ADGRV1):c.1093G>T (p.Asp365Tyr)
|
rs372147148
|
0.00001
|
NM_032119.4(ADGRV1):c.13537C>A (p.Pro4513Thr)
|
rs751291710
|
0.00001
|
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)
|
rs755919767
|
0.00001
|
NM_052867.4(NALCN):c.1434+1G>A
|
rs2041614157
|
0.00001
|
NM_052867.4(NALCN):c.4236C>A (p.Tyr1412Ter)
|
rs1158771233
|
0.00001
|
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)
|
rs121908636
|
0.00001
|
NM_130810.4(DNAAF4):c.1111C>T (p.Arg371Ter)
|
rs774796257
|
0.00001
|
NM_138576.4(BCL11B):c.1474C>T (p.Leu492Phe)
|
rs1886469645
|
0.00001
|
NM_138615.3(DHX30):c.1352C>T (p.Pro451Leu)
|
rs368673690
|
0.00001
|
NM_138773.4(SLC25A46):c.371G>A (p.Arg124His)
|
rs756258729
|
0.00001
|
NM_152281.3(GORAB):c.649T>C (p.Tyr217His)
|
rs749490786
|
0.00001
|
NM_152393.4(KLHL40):c.1396G>A (p.Val466Ile)
|
rs773720799
|
0.00001
|
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)
|
rs483352894
|
0.00001
|
NM_152641.4(ARID2):c.4769C>T (p.Pro1590Leu)
|
rs765441891
|
0.00001
|
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln)
|
rs776511246
|
0.00001
|
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)
|
rs267607115
|
0.00001
|
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)
|
rs775883520
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_176787.5(PIGN):c.1240T>A (p.Phe414Ile)
|
rs548412299
|
0.00001
|
NM_176787.5(PIGN):c.996T>G (p.Ile332Met)
|
rs1060499763
|
0.00001
|
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)
|
rs761403504
|
0.00001
|
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser)
|
rs1179113718
|
0.00001
|
NM_178862.3(STT3B):c.619A>G (p.Ile207Val)
|
rs780102016
|
0.00001
|
NM_181672.3(OGT):c.349C>T (p.Arg117Cys)
|
rs1317050680
|
0.00001
|
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)
|
rs137852846
|
0.00001
|
NM_183075.3(CYP2U1):c.370C>T (p.His124Tyr)
|
rs1048541745
|
0.00001
|
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr)
|
rs778670384
|
0.00001
|
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter)
|
rs781174906
|
0.00001
|
NM_198525.3(KIF7):c.67C>T (p.Arg23Ter)
|
rs1235928535
|
0.00001
|
NM_199242.3(UNC13D):c.3079G>A (p.Gly1027Arg)
|
rs776703437
|
0.00001
|
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys)
|
rs114994257
|
0.00001
|
NM_207118.3(GTF2H5):c.36-2A>G
|
rs765378190
|
0.00001
|
NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter)
|
rs1156283736
|
0.00001
|
NC_000002.12:g.31532094_31545036delinsCA
|
|
|
NC_000009.12:g.130677193_130686925del
|
|
|
NC_000010.11:g.68247368_68253890del
|
|
|
NC_012920.1(MT-CO3):m.9804G>A
|
rs200613617
|
|
NC_012920.1:m.11467A>G
|
rs2853493
|
|
NC_012920.1:m.12372G>A
|
rs2853499
|
|
NM_000018.4(ACADVL):c.325G>A (p.Val109Met)
|
rs754207297
|
|
NM_000022.4(ADA):c.678+5G>A
|
rs763478578
|
|
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter)
|
rs201114595
|
|
NM_000044.6(AR):c.1370GCG[20] (p.Gly471_Gly473dup)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[5] (p.Gly462_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.1370GCG[7] (p.Gly464_Gly473del)
|
rs746853821
|
|
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup)
|
rs3032358
|
|
NM_000044.6(AR):c.2342T>A (p.Met781Lys)
|
rs2076137339
|
|
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg)
|
rs748454316
|
|
NM_000048.4(ASL):c.1079T>C (p.Met360Thr)
|
rs875989948
|
|
NM_000049.4(ASPA):c.244dup (p.Met82fs)
|
rs756198538
|
|
NM_000049.4(ASPA):c.309dup (p.Asp104fs)
|
rs1209227358
|
|
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
|
rs2073669074
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
NM_000051.4(ATM):c.467G>A (p.Trp156Ter)
|
rs876658159
|
|
NM_000052.7(ATP7A):c.3049G>A (p.Gly1017Arg)
|
rs1557236754
|
|
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu)
|
rs1557237050
|
|
NM_000052.7(ATP7A):c.3778A>G (p.Thr1260Ala)
|
rs1603390837
|
|
NM_000053.4(ATP7B):c.1907C>A (p.Pro636His)
|
rs1593739354
|
|
NM_000053.4(ATP7B):c.2701A>G (p.Lys901Glu)
|
rs1593695760
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
NM_000059.4(BRCA2):c.331A>G (p.Asn111Asp)
|
rs1555280839
|
|
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter)
|
rs80358593
|
|
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
|
rs397507683
|
|
NM_000059.4(BRCA2):c.3830del (p.Asn1277fs)
|
rs397507689
|
|
NM_000059.4(BRCA2):c.5081G>T (p.Arg1694Ile)
|
rs753721331
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5555T>A (p.Val1852Asp)
|
rs483352930
|
|
NM_000059.4(BRCA2):c.6261_6262insGT (p.Thr2088fs)
|
rs1555284614
|
|
NM_000059.4(BRCA2):c.6841+80_6841+83del
|
rs11571661
|
|
NM_000059.4(BRCA2):c.7679_7680del (p.Phe2560fs)
|
rs80359673
|
|
NM_000059.4(BRCA2):c.793+64del
|
rs751977993
|
|
NM_000059.4(BRCA2):c.8395del (p.Arg2799fs)
|
rs80359709
|
|
NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter)
|
rs587776351
|
|
NM_000059.4(BRCA2):c.8585dup (p.Glu2863fs)
|
rs80359720
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
rs80359159
|
|
NM_000059.4(BRCA2):c.9266C>T (p.Pro3089Leu)
|
rs1555289499
|
|
NM_000059.4(BRCA2):c.9827G>A (p.Arg3276Lys)
|
rs1555289967
|
|
NM_000063.6(C2):c.839_849del (p.Met280fs)
|
rs1770220135
|
|
NM_000066.4(C8B):c.361C>T (p.Arg121Ter)
|
rs150022116
|
|
NM_000067.3(CA2):c.21C>A (p.Tyr7Ter)
|
rs1554709677
|
|
NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met)
|
rs750807406
|
|
NM_000069.3(CACNA1S):c.2157+1G>A
|
rs1572045885
|
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
NM_000079.4(CHRNA1):c.995T>C (p.Val332Ala)
|
rs1558909889
|
|
NM_000080.4(CHRNE):c.1219+33G>A
|
rs1392547473
|
|
NM_000080.4(CHRNE):c.1327del
|
rs763258280
|
|
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg)
|
rs746691295
|
|
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu)
|
rs1554435319
|
|
NM_000085.5(CLCNKB):c.1476del (p.Gly493fs)
|
rs1159737562
|
|
NM_000088.4(COL1A1):c.1002+2T>C
|
rs786205507
|
|
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val)
|
rs1562906013
|
|
NM_000094.4(COL7A1):c.4233del (p.Gly1412fs)
|
rs1560241522
|
|
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys)
|
rs1055680335
|
|
NM_000098.3(CPT2):c.1734dup (p.Tyr579fs)
|
|
|
NM_000112.4(SLC26A2):c.374A>T (p.Gln125Leu)
|
rs875989951
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
NM_000123.4(ERCC5):c.348_352del (p.Arg116fs)
|
rs1242579404
|
|
NM_000124.4(ERCC6):c.1004del (p.Leu335fs)
|
rs1554793305
|
|
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp)
|
rs1564430115
|
|
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2824A>C (p.Thr942Pro)
|
rs1590407957
|
|
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs)
|
rs1567593047
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly)
|
rs1555393658
|
|
NM_000146.4(FTL):c.190G>A (p.Glu64Lys)
|
rs11553225
|
|
NM_000151.4(G6PC1):c.305T>A (p.Ile102Lys)
|
|
|
NM_000151.4(G6PC1):c.592_593del (p.Ile198fs)
|
rs2151932243
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)
|
rs121907940
|
|
NM_000153.4(GALC):c.578T>C (p.Ile193Thr)
|
rs1555383498
|
|
NM_000155.4(GALT):c.572C>T (p.Ala191Val)
|
rs794727838
|
|
NM_000156.6(GAMT):c.491del (p.Gly164fs)
|
rs749390953
|
|
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)
|
rs369068553
|
|
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)
|
rs1553684545
|
|
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)
|
rs786204626
|
|
NM_000159.4(GCDH):c.541G>C (p.Glu181Gln)
|
rs745852738
|
|
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123
|
|
NM_000169.3(GLA):c.727T>A (p.Leu243Met)
|
rs782453201
|
|
NM_000170.3(GLDC):c.1100C>T (p.Thr367Ile)
|
rs1183976692
|
|
NM_000170.3(GLDC):c.1853G>A (p.Gly618Glu)
|
rs1563839743
|
|
NM_000170.3(GLDC):c.2544C>G (p.Tyr848Ter)
|
rs1554643354
|
|
NM_000171.4(GLRA1):c.252+2T>C
|
rs1554085893
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)
|
rs1006935198
|
|
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)
|
rs61750184
|
|
NM_000180.4(GUCY2D):c.2945-2A>C
|
rs1975955933
|
|
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu)
|
rs1583924426
|
|
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser)
|
rs138966725
|
|
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr)
|
rs987203346
|
|
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg)
|
rs891954464
|
|
NM_000187.4(HGD):c.175del (p.Ser59fs)
|
rs397515517
|
|
NM_000187.4(HGD):c.189G>T (p.Arg63Ser)
|
rs1390061303
|
|
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys)
|
rs118204110
|
|
NM_000191.3(HMGCL):c.499T>A (p.Tyr167Asn)
|
rs1553132209
|
|
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)
|
rs137852494
|
|
NM_000199.5(SGSH):c.578T>C (p.Phe193Ser)
|
rs1555621662
|
|
NM_000199.5(SGSH):c.763del (p.Gln255fs)
|
rs1555620827
|
|
NM_000199.5(SGSH):c.89-2A>G
|
rs1369704445
|
|
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser)
|
rs1557338131
|
|
NM_000202.8(IDS):c.196C>T (p.Gln66Ter)
|
rs1557340403
|
|
NM_000202.8(IDS):c.473ATC[1] (p.His159del)
|
rs1557339887
|
|
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1084C>T (p.Gln362Ter)
|
rs1715144653
|
|
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)
|
rs875989946
|
|
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs)
|
rs875989947
|
|
NM_000211.4(ITGB2):c.[576dupC];[706G>A]
|
|
|
NM_000211.5(ITGB2):c.1030G>T (p.Glu344Ter)
|
rs483352816
|
|
NM_000211.5(ITGB2):c.1143del (p.Tyr382fs)
|
rs483352817
|
|
NM_000211.5(ITGB2):c.1877+2T>C
|
rs483352818
|
|
NM_000211.5(ITGB2):c.1878-45dup
|
rs35293792
|
|
NM_000211.5(ITGB2):c.1907del (p.Lys636fs)
|
rs483352819
|
|
NM_000211.5(ITGB2):c.2247+57C>T
|
rs33973568
|
|
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr)
|
rs137852615
|
|
NM_000211.5(ITGB2):c.576dup (p.Asn193fs)
|
rs483352813
|
|
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg)
|
rs483352814
|
|
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr)
|
rs179363873
|
|
NM_000211.5(ITGB2):c.843del (p.Asn282fs)
|
rs483352815
|
|
NM_000211.5(ITGB2):c.897+1G>T
|
rs201752283
|
|
NM_000214.3(JAG1):c.2113+5G>C
|
rs886044704
|
|
NM_000215.4(JAK3):c.3103del (p.Leu1035fs)
|
rs1424732031
|
|
NM_000215.4(JAK3):c.3257C>T (p.Pro1086Leu)
|
rs777493612
|
|
NM_000226.4(KRT9):c.1674T>G (p.Tyr558Ter)
|
rs1906910979
|
|
NM_000228.3(LAMB3):c.1344_1345del (p.Ser448fs)
|
rs1553277267
|
|
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)
|
rs875989949
|
|
NM_000234.3(LIG1):c.2068G>A (p.Glu690Lys)
|
rs1599745490
|
|
NM_000237.3(LPL):c.797G>A (p.Cys266Tyr)
|
rs1554517725
|
|
NM_000249.4(MLH1):c.355A>G (p.Thr119Ala)
|
rs977932120
|
|
NM_000251.3(MSH2):c.163C>T (p.Arg55Trp)
|
rs587782354
|
|
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys)
|
rs1569565536
|
|
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly)
|
rs727504020
|
|
NM_000255.4(MMUT):c.1874A>C (p.Asp625Ala)
|
rs879253847
|
|
NM_000255.4(MMUT):c.2T>C (p.Met1Thr)
|
rs879253820
|
|
NM_000255.4(MMUT):c.806C>T (p.Ala269Val)
|
rs767593892
|
|
NM_000257.4(MYH7):c.195T>G (p.Tyr65Ter)
|
rs934278063
|
|
NM_000257.4(MYH7):c.2335G>C (p.Glu779Gln)
|
rs1427104281
|
|
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln)
|
rs727505325
|
|
NM_000257.4(MYH7):c.3985dup (p.Leu1329fs)
|
rs1566526391
|
|
NM_000262.3(NAGA):c.59A>G (p.Asn20Ser)
|
rs1022560950
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.1944dup (p.Trp649fs)
|
rs886039895
|
|
NM_000263.4(NAGLU):c.480del (p.Asn160fs)
|
rs886039894
|
|
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs)
|
rs1567891258
|
|
NM_000266.4(NDP):c.200G>T (p.Gly67Val)
|
rs1460859456
|
|
NM_000268.4(NF2):c.4G>T (p.Ala2Ser)
|
rs1601515682
|
|
NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter)
|
rs1555637139
|
|
NM_000271.5(NPC1):c.881+1G>T
|
rs1555638409
|
|
NM_000277.3(PAH):c.1180G>C (p.Asp394His)
|
rs62516142
|
|
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)
|
rs137853250
|
|
NM_000285.4(PEPD):c.393+4G>A
|
rs1555769771
|
|
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del)
|
rs61752098
|
|
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)
|
rs61752102
|
|
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)
|
rs28936697
|
|
NM_000290.4(PGAM2):c.533del (p.Gly178fs)
|
rs747947171
|
|
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr)
|
rs773766679
|
|
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe)
|
rs1569286164
|
|
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
|
rs185753709
|
|
NM_000302.4(PLOD1):c.1651-2A>C
|
rs565513365
|
|
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe)
|
rs763494719
|
|
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys)
|
rs199990859
|
|
NM_000314.8(PTEN):c.196A>T (p.Lys66Ter)
|
rs1554897271
|
|
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn)
|
rs1553153243
|
|
NM_000334.4(SCN4A):c.3062G>T (p.Arg1021Leu)
|
rs770497876
|
|
NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs)
|
rs1553785722
|
|
NM_000340.2(SLC2A2):c.613-1G>C
|
rs1553786361
|
|
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)
|
rs121912691
|
|
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup)
|
rs775681808
|
|
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg)
|
rs61749412
|
|
NM_000350.3(ABCA4):c.2713del (p.Glu905fs)
|
rs869312184
|
|
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)
|
rs1557767754
|
|
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala)
|
rs1564890766
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
NM_000371.4(TTR):c.122G>A (p.Arg41Gln)
|
rs879254269
|
|
NM_000372.5(TYR):c.-9_-7delinsGG
|
rs483352878
|
|
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser)
|
rs1344899647
|
|
NM_000374.5(UROD):c.21-1G>C
|
rs1644814606
|
|
NM_000376.3(VDR):c.220C>A (p.Arg74Ser)
|
|
|
NM_000376.3(VDR):c.821G>A (p.Arg274His)
|
rs121909796
|
|
NM_000381.4(MID1):c.757-5831A>G
|
rs1555896387
|
|
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
|
|
|
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
|
|
|
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter)
|
rs1554853028
|
|
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)
|
rs932803146
|
|
NM_000400.4(ERCC2):c.1636G>A (p.Glu546Lys)
|
rs769146546
|
|
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)
|
rs200665173
|
|
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)
|
rs794729217
|
|
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe)
|
rs1553612143
|
|
NM_000426.4(LAMA2):c.1127del (p.Gly376fs)
|
rs1583149141
|
|
NM_000426.4(LAMA2):c.397-4_478del
|
rs1554217494
|
|
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln)
|
rs1554287445
|
|
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr)
|
rs1299914386
|
|
NM_000426.4(LAMA2):c.7452-1G>A
|
rs1554304931
|
|
NM_000426.4(LAMA2):c.8591A>T (p.Asp2864Val)
|
rs778258870
|
|
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)
|
rs886039896
|
|
NM_000426.4(LAMA2):c.872G>C (p.Gly291Ala)
|
rs1554226736
|
|
NM_000426.4(LAMA2):c.9128G>A (p.Gly3043Glu)
|
rs762958440
|
|
NM_000427.3(LORICRIN):c.112GGC[5] (p.Gly41dup)
|
rs770195151
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
NM_000444.6(PHEX):c.1587-1G>A
|
rs886041839
|
|
NM_000465.4(BARD1):c.2106C>G (p.Ile702Met)
|
rs1559372357
|
|
NM_000466.3(PEX1):c.2783+6T>C
|
rs1585224298
|
|
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro)
|
rs773206107
|
|
NM_000475.5(NR0B1):c.1267del (p.His423fs)
|
rs1569268048
|
|
NM_000483.5(APOC2):c.189C>A (p.Tyr63Ter)
|
rs754423238
|
|
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)
|
rs199476375
|
|
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp)
|
rs1569078754
|
|
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)
|
rs782391479
|
|
NM_000492.3(CFTR):c.13196C>T
|
rs1554398510
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)
|
rs3034796
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.409del (p.Leu137fs)
|
rs397508672
|
|
NM_000493.4(COL10A1):c.1049G>A (p.Gly350Asp)
|
rs1403393545
|
|
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)
|
rs104894061
|
|
NM_000507.4(FBP1):c.841G>T (p.Glu281Ter)
|
rs566453434
|
|
NM_000507.4(FBP1):c.966del (p.Asp323fs)
|
rs747269745
|
|
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr)
|
rs948490589
|
|
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)
|
rs786205899
|
|
NM_000512.5(GALNS):c.952A>G (p.Met318Val)
|
rs537013895
|
|
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)
|
rs33960103
|
|
NM_000518.5(HBB):c.112del (p.Trp38fs)
|
rs63750532
|
|
NM_000518.5(HBB):c.315+1G>T
|
rs33945777
|
|
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)
|
rs1229811721
|
|
NM_000521.4(HEXB):c.833C>T (p.Ala278Val)
|
rs886044118
|
|
NM_000525.4(KCNJ11):c.238del (p.Leu80fs)
|
rs1953589834
|
|
NM_000525.4(KCNJ11):c.368dup (p.Ser124fs)
|
rs1554901822
|
|
NM_000530.8(MPZ):c.637G>A (p.Gly213Arg)
|
rs202176679
|
|
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)
|
rs67120076
|
|
NM_000532.5(PCCB):c.373-1246G>A
|
rs996480567
|
|
NM_000540.3(RYR1):c.10702T>G (p.Ser3568Ala)
|
rs772784769
|
|
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)
|
rs1555793251
|
|
NM_000540.3(RYR1):c.1289C>A (p.Pro430His)
|
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
NM_000540.3(RYR1):c.1627T>G (p.Leu543Val)
|
rs946863283
|
|
NM_000540.3(RYR1):c.2485C>T (p.Arg829Ter)
|
rs778320565
|
|
NM_000540.3(RYR1):c.5503G>A (p.Glu1835Lys)
|
rs1600773722
|
|
NM_000540.3(RYR1):c.7114G>C (p.Gly2372Arg)
|
rs1600820601
|
|
NM_000540.3(RYR1):c.7927-7C>T
|
rs886054395
|
|
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)
|
rs1568510406
|
|
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)
|
rs775492883
|
|
NM_000540.3(RYR1):c.9643G>A (p.Ala3215Thr)
|
rs745421419
|
|
NM_000542.5(SFTPB):c.1084-1G>A
|
rs1558572491
|
|
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)
|
rs371837210
|
|
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)
|
rs797044797
|
|
NM_000545.8(HNF1A):c.43G>T (p.Ala15Ser)
|
rs1265717222
|
|
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)
|
rs967461896
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys)
|
rs1555507478
|
|
NM_000548.5(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr)
|
rs1555439825
|
|
NM_000558.5(HBA1):c.2T>G (p.Met1Arg)
|
rs1316527998
|
|
NM_000578.4(SLC11A1):c.806T>C (p.Ile269Thr)
|
rs754247821
|
|
NM_000611.6(CD59):c.190T>G (p.Cys64Gly)
|
rs1554939509
|
|
NM_000611.6(CD59):c.85T>G (p.Tyr29Asp)
|
rs1564972905
|
|
NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser)
|
rs1592344306
|
|
NM_000642.3(AGL):c.3302G>A (p.Arg1101Lys)
|
|
|
NM_000642.3(AGL):c.4037C>T (p.Ser1346Leu)
|
rs1553192908
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.889A>T (p.Lys297Ter)
|
|
|
NM_000660.7(TGFB1):c.535T>C (p.Trp179Arg)
|
rs1568478752
|
|
NM_000700.3(ANXA1):c.209_212del (p.Thr70fs)
|
rs1563961902
|
|
NM_000709.4(BCKDHA):c.143del (p.Leu48fs)
|
rs1555765593
|
|
NM_000718.4(CACNA1B):c.4953C>A (p.Ser1651Arg)
|
rs200540820
|
|
NM_000718.4(CACNA1B):c.5233A>G (p.Ser1745Gly)
|
rs1554758384
|
|
NM_000744.7(CHRNA4):c.496A>T (p.Thr166Ser)
|
rs1568810867
|
|
NM_000751.3(CHRND):c.1181A>C (p.Lys394Thr)
|
rs1553575390
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser)
|
rs775749394
|
|
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala)
|
rs1555401442
|
|
NM_000817.3(GAD1):c.1672C>T (p.Pro558Ser)
|
rs774953382
|
|
NM_000876.4(IGF2R):c.52_58del (p.Arg18fs)
|
rs1783569729
|
|
NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter)
|
rs1598211614
|
|
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu)
|
rs1576955015
|
|
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)
|
rs397518483
|
|
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn)
|
rs1553285006
|
|
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
|
rs576330538
|
|
NM_000975.5(RPL11):c.43_49del (p.Leu15fs)
|
rs1553121678
|
|
NM_001001548.3(CD36):c.784dup (p.Gln262fs)
|
rs766920034
|
|
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)
|
rs2079508089
|
|
NM_001002800.3(SMC4):c.1513G>T (p.Glu505Ter)
|
rs1236643072
|
|
NM_001003800.2(BICD2):c.1618C>G (p.His540Asp)
|
rs1564060049
|
|
NM_001003800.2(BICD2):c.703A>C (p.Ile235Leu)
|
rs1587670538
|
|
NM_001003800.2(BICD2):c.94G>C (p.Glu32Gln)
|
rs1564076641
|
|
NM_001003841.3(SLC6A19):c.1463A>G (p.Tyr488Cys)
|
rs1554035332
|
|
NM_001006658.3(CR2):c.462T>A (p.Cys154Ter)
|
rs1572952530
|
|
NM_001007237.3(IGSF3):c.1724G>A (p.Trp575Ter)
|
rs61730489
|
|
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu)
|
rs1572360947
|
|
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)
|
rs80359859
|
|
NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup)
|
rs781355841
|
|
NM_001024630.4(RUNX2):c.217del (p.Ala73fs)
|
rs1554384228
|
|
NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs)
|
rs1338909353
|
|
NM_001024630.4(RUNX2):c.3G>A (p.Met1Ile)
|
rs1562961725
|
|
NM_001029885.2(CPTP):c.193G>T (p.Glu65Ter)
|
rs1569622035
|
|
NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs)
|
rs387907328
|
|
NM_001029896.2(WDR45):c.657_658del (p.Leu219_Phe220insTer)
|
rs1569523468
|
|
NM_001031834.1(RAB40AL):c.2T>A (p.Met1Lys)
|
rs767350323
|
|
NM_001033044.4(GLUL):c.997AAG[1] (p.Lys334del)
|
rs1558157160
|
|
NM_001034850.3(RETREG1):c.458+2T>C
|
rs1741988534
|
|
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del)
|
rs1569041188
|
|
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg)
|
rs1555896093
|
|
NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr)
|
rs1555927212
|
|
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln)
|
rs755003900
|
|
NM_001040142.2(SCN2A):c.4312G>A (p.Glu1438Lys)
|
rs1553462096
|
|
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter)
|
rs1383641417
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.3113+1G>T
|
rs267606599
|
|
NM_001042492.3(NF1):c.827T>A (p.Leu276Ter)
|
rs2066158230
|
|
NM_001042681.2(RERE):c.2134T>C (p.Ser712Pro)
|
rs1570039432
|
|
NM_001042681.2(RERE):c.3346C>A (p.Pro1116Thr)
|
rs1557585339
|
|
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)
|
rs1438501767
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001061.7(TBXAS1):c.605G>A (p.Trp202Ter)
|
|
|
NM_001067.4(TOP2A):c.3050A>T (p.Asp1017Val)
|
rs1567784471
|
|
NM_001077418.3(TMEM231):c.-11G>T
|
rs2080810222
|
|
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)
|
rs119463996
|
|
NM_001080.3(ALDH5A1):c.1343+1G>A
|
rs1561879380
|
|
NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT
|
rs875989801
|
|
NM_001080414.4(CCDC88C):c.3539G>A (p.Arg1180Gln)
|
rs1166585047
|
|
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile)
|
rs376624048
|
|
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter)
|
rs1554790861
|
|
NM_001081.4(CUBN):c.8393G>A (p.Trp2798Ter)
|
rs1841332247
|
|
NM_001083116.3(PRF1):c.1046T>C (p.Leu349Pro)
|
rs1848169364
|
|
NM_001083116.3(PRF1):c.1175del (p.Pro392fs)
|
rs1554867753
|
|
NM_001083614.2(EARS2):c.790C>G (p.Leu264Val)
|
rs1555503379
|
|
NM_001083962.2(TCF4):c.785G>A (p.Arg262His)
|
rs1555796645
|
|
NM_001084.5(PLOD3):c.1684C>T (p.Pro562Ser)
|
rs369002471
|
|
NM_001089.3(ABCA3):c.1225C>G (p.Leu409Val)
|
rs1567347771
|
|
NM_001089.3(ABCA3):c.1939C>T (p.Gln647Ter)
|
rs2093682532
|
|
NM_001098.3(ACO2):c.2026C>G (p.Leu676Val)
|
rs1569025557
|
|
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser)
|
rs753556936
|
|
NM_001101362.3(KBTBD13):c.1026T>G (p.Tyr342Ter)
|
rs760601340
|
|
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
|
rs587777798
|
|
NM_001101426.4(CRPPA):c.722del (p.Leu241fs)
|
rs1554320168
|
|
NM_001105206.3(LAMA4):c.1801G>A (p.Ala601Thr)
|
rs1554337589
|
|
NM_001110556.2(FLNA):c.70C>G (p.Arg24Gly)
|
rs1164930154
|
|
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)
|
rs267608589
|
|
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup)
|
rs587783744
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)
|
rs121912678
|
|
NM_001111125.3(IQSEC2):c.1637G>A (p.Trp546Ter)
|
rs2074379209
|
|
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=)
|
rs782748833
|
|
NM_001113226.3(NTNG1):c.1238A>T (p.Asp413Val)
|
rs1570946113
|
|
NM_001123385.2(BCOR):c.3437_3445del (p.Glu1146_Thr1148del)
|
rs1555915744
|
|
NM_001123385.2(BCOR):c.4523G>C (p.Gly1508Ala)
|
rs1569142538
|
|
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del)
|
rs763302316
|
|
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup)
|
rs776584949
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu)
|
rs2054931821
|
|
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del)
|
rs759331923
|
|
NM_001127222.2(CACNA1A):c.6684T>G (p.Tyr2228Ter)
|
rs2054683190
|
|
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp)
|
rs2054617959
|
|
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)
|
rs61752129
|
|
NM_001128148.3(TFRC):c.1198+1G>T
|
rs1341988492
|
|
NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys)
|
rs1559716901
|
|
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup)
|
rs71036212
|
|
NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp)
|
rs1589203624
|
|
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly)
|
rs1568249130
|
|
NM_001130987.2(DYSF):c.231G>A (p.Gly77=)
|
rs1553508988
|
|
NM_001134407.3(GRIN2A):c.2929A>C (p.Asn977His)
|
rs776506065
|
|
NM_001134831.2(AHI1):c.2623+1G>T
|
rs751823180
|
|
NM_001139.3(ALOX12B):c.1566G>T (p.Pro522=)
|
rs936466427
|
|
NM_001139.3(ALOX12B):c.305A>G (p.Tyr102Cys)
|
rs1978296638
|
|
NM_001139.3(ALOX12B):c.527+2T>G
|
rs1555643304
|
|
NM_001142416.2(AIMP1):c.334C>T (p.Gln112Ter)
|
rs879253867
|
|
NM_001142784.3(IL11RA):c.331+2T>C
|
rs1554710108
|
|
NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro)
|
rs774268616
|
|
NM_001143992.2(WRAP53):c.1118del (p.Leu373fs)
|
rs1597422298
|
|
NM_001144967.3(NEDD4L):c.1088C>T (p.Ala363Val)
|
rs200565814
|
|
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys)
|
|
|
NM_001144967.3(NEDD4L):c.271T>A (p.Phe91Ile)
|
rs1600253758
|
|
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser)
|
rs1555180294
|
|
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp)
|
rs1568504395
|
|
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys)
|
rs556548077
|
|
NM_001163435.3(TBCK):c.360_363del (p.His120fs)
|
rs1560929669
|
|
NM_001163809.2(WDR81):c.1903C>T (p.Arg635Trp)
|
rs759326308
|
|
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
|
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.4466G>T (p.Gly1489Val)
|
rs74482326
|
|
NM_001164508.2(NEB):c.6127A>G (p.Arg2043Gly)
|
rs1321911647
|
|
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)
|
rs80344795
|
|
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys)
|
rs200351671
|
|
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys)
|
rs757944456
|
|
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His)
|
rs1574214734
|
|
NM_001165963.4(SCN1A):c.2416-1G>A
|
rs1553542421
|
|
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)
|
rs1690003122
|
|
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)
|
rs780809852
|
|
NM_001170535.3(ATAD3A):c.400G>A (p.Asp134Asn)
|
rs1427452560
|
|
NM_001170535.3(ATAD3A):c.817C>A (p.Arg273Ser)
|
rs574343682
|
|
NM_001172303.3(MASTL):c.867T>A (p.Asn289Lys)
|
rs535159862
|
|
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly)
|
rs529580146
|
|
NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile)
|
rs537556482
|
|
NM_001195248.2(APTX):c.484-1G>T
|
rs1563963464
|
|
NM_001195305.3(BBIP1):c.38-6071C>G
|
rs760064445
|
|
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys)
|
rs1556405057
|
|
NM_001197104.2(KMT2A):c.2348_2349del (p.Ser783fs)
|
rs1064793451
|
|
NM_001197104.2(KMT2A):c.2541_2542del (p.Gly848fs)
|
|
|
NM_001197104.2(KMT2A):c.2896A>T (p.Arg966Ter)
|
rs1555036801
|
|
NM_001197104.2(KMT2A):c.3542G>A (p.Gly1181Asp)
|
|
|
NM_001197104.2(KMT2A):c.5582G>T (p.Ser1861Ile)
|
rs1950407707
|
|
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter)
|
rs1567411469
|
|
NM_001199397.3(NEK1):c.2974+1G>T
|
rs1561165983
|
|
NM_001199397.3(NEK1):c.3410T>C (p.Leu1137Pro)
|
rs1554020960
|
|
NM_001202.6(BMP4):c.839G>C (p.Arg280Pro)
|
rs776094026
|
|
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs)
|
rs797045841
|
|
NM_001243226.3(TCF4):c.74del (p.Asn25fs)
|
rs752700752
|
|
NM_001244008.2(KIF1A):c.2380G>A (p.Val794Met)
|
rs2050404791
|
|
NM_001264.5(CDSN):c.1490G>A (p.Arg497His)
|
rs768301621
|
|
NM_001267550.2(TTN):c.10096del (p.Cys3366fs)
|
|
|
NM_001267550.2(TTN):c.106925G>A (p.Gly35642Asp)
|
rs1553480410
|
|
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter)
|
rs747286444
|
|
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del)
|
rs727503701
|
|
NM_001267550.2(TTN):c.23633A>T (p.Glu7878Val)
|
rs1553906392
|
|
NM_001267550.2(TTN):c.31643C>T (p.Pro10548Leu)
|
rs753460621
|
|
NM_001267550.2(TTN):c.33826+1G>A
|
rs1389908421
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5])
|
rs397517548
|
|
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)
|
rs1554015228
|
|
NM_001267550.2(TTN):c.34922del (p.Pro11641fs)
|
rs1553809971
|
|
NM_001267550.2(TTN):c.39379+2T>G
|
rs1560102141
|
|
NM_001267550.2(TTN):c.69328T>C (p.Tyr23110His)
|
rs1553616495
|
|
NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter)
|
rs1559446852
|
|
NM_001267550.2(TTN):c.91363G>A (p.Val30455Met)
|
rs766444853
|
|
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn)
|
rs776793953
|
|
NM_001271.4(CHD2):c.4297A>G (p.Lys1433Glu)
|
rs1567160905
|
|
NM_001277062.2(MFF):c.337C>A (p.Pro113Thr)
|
rs1414317381
|
|
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)
|
rs797045673
|
|
NM_001278464.2(DNM1L):c.253C>G (p.Pro85Ala)
|
rs762401850
|
|
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs)
|
rs1554215986
|
|
NM_001282534.2(KCNK9):c.223G>A (p.Gly75Ser)
|
rs1563758595
|
|
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del)
|
rs1555812473
|
|
NM_001291303.3(FAT4):c.13399G>A (p.Val4467Met)
|
rs1215405311
|
|
NM_001291303.3(FAT4):c.13525G>C (p.Ala4509Pro)
|
rs1553931010
|
|
NM_001291303.3(FAT4):c.7267G>A (p.Ala2423Thr)
|
rs776977766
|
|
NM_001291303.3(FAT4):c.913A>T (p.Ile305Phe)
|
rs1553958385
|
|
NM_001308330.2(STXBP5L):c.2372G>C (p.Arg791Pro)
|
rs200186528
|
|
NM_001317785.2(STYXL1):c.875dup (p.Leu293fs)
|
rs1563451176
|
|
NM_001323043.2(PHTF1):c.1973dup (p.Leu658fs)
|
rs1168463464
|
|
NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr)
|
rs1279388510
|
|
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter)
|
rs875989950
|
|
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs)
|
rs1555954737
|
|
NM_001330.5(CTF1):c.457del (p.Glu153fs)
|
rs1567331398
|
|
NM_001330360.2(POLA1):c.412A>G (p.Asn138Asp)
|
rs1555973963
|
|
NM_001330574.2(ZNF711):c.2210T>G (p.Leu737Arg)
|
rs1555975302
|
|
NM_001346754.2(PIGW):c.608T>G (p.Leu203Trp)
|
rs12952744
|
|
NM_001346754.2(PIGW):c.617_620del (p.Val206fs)
|
rs753385776
|
|
NM_001348800.3(ZBTB20):c.1811A>C (p.Lys604Thr)
|
rs483353069
|
|
NM_001349.4(DARS1):c.1481G>A (p.Arg494His)
|
rs967111310
|
|
NM_001349253.2(SCN11A):c.4837G>A (p.Glu1613Lys)
|
rs1559482661
|
|
NM_001352754.2(ARMC9):c.1767TGA[1] (p.Asp590del)
|
rs1553618510
|
|
NM_001354604.2(MITF):c.1072G>A (p.Val358Met)
|
rs1271000541
|
|
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
|
rs1057518707
|
|
NM_001356.5(DDX3X):c.58G>T (p.Asp20Tyr)
|
rs1569233520
|
|
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs)
|
rs397518419
|
|
NM_001358530.2(MOCS1):c.253C>T (p.Gln85Ter)
|
rs1768262580
|
|
NM_001359.2(DECR1):c.202G>A (p.Gly68Ser)
|
rs1451324144
|
|
NM_001365088.1(SLC12A6):c.1099T>G (p.Phe367Val)
|
rs767723184
|
|
NM_001365276.2(TNXB):c.7126G>T (p.Gly2376Cys)
|
rs764295837
|
|
NM_001365276.2(TNXB):c.8867G>C (p.Gly2956Ala)
|
rs1562797000
|
|
NM_001365536.1(SCN9A):c.347GAA[1] (p.Arg117del)
|
rs1559030991
|
|
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His)
|
rs775153972
|
|
NM_001367721.1(CASK):c.761G>A (p.Arg254His)
|
rs1569376084
|
|
NM_001367721.1(CASK):c.824G>A (p.Trp275Ter)
|
rs1602424764
|
|
NM_001368397.1(FRMPD4):c.580G>A (p.Val194Ile)
|
rs2060020376
|
|
NM_001368809.2(AMPD2):c.806T>C (p.Leu269Pro)
|
rs1570587910
|
|
NM_001368882.1(COL13A1):c.2040C>T (p.Pro680=)
|
rs555259357
|
|
NM_001369.3(DNAH5):c.13413G>A (p.Trp4471Ter)
|
rs1742093744
|
|
NM_001370298.3(FGD4):c.1367G>A (p.Arg456His)
|
rs533939591
|
|
NM_001370298.3(FGD4):c.167-77996del
|
rs1357153004
|
|
NM_001370466.1(NOD2):c.1951del (p.Leu651fs)
|
rs1201050964
|
|
NM_001370595.2(COA8):c.41dup (p.Leu15fs)
|
rs759966247
|
|
NM_001370595.2(COA8):c.476+1G>A
|
rs900628637
|
|
NM_001371194.2(SEMA4D):c.1070G>A (p.Arg357His)
|
rs534671276
|
|
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr)
|
rs556875684
|
|
NM_001371623.1(TCOF1):c.3683C>T (p.Ser1228Phe)
|
rs1554079581
|
|
NM_001371928.1(AHDC1):c.2032C>T (p.Arg678Trp)
|
rs1557663705
|
|
NM_001371928.1(AHDC1):c.2948dup (p.Thr984fs)
|
rs1571232632
|
|
NM_001371986.1(UNC80):c.5421A>T (p.Glu1807Asp)
|
rs1559333459
|
|
NM_001371986.1(UNC80):c.5570_5571del (p.Val1857fs)
|
rs2090097617
|
|
NM_001372574.1(ATXN2):c.176_190del (p.Val59_Ser63del)
|
rs778119853
|
|
NM_001374623.1(PNPLA1):c.374C>A (p.Thr125Asn)
|
rs1554137705
|
|
NM_001374736.1(DST):c.21014A>C (p.Lys7005Thr)
|
rs1562306218
|
|
NM_001374736.1(DST):c.5272G>A (p.Val1758Ile)
|
rs1554488238
|
|
NM_001374828.1(ARID1B):c.1281_1295del (p.Ala429_Ala433del)
|
rs1457993750
|
|
NM_001374828.1(ARID1B):c.1598_1599insAAC (p.Pro533_Ser534insThr)
|
rs1562378653
|
|
NM_001375808.2(LPIN2):c.469C>T (p.Arg157Ter)
|
rs916009547
|
|
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)
|
rs755131800
|
|
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr)
|
rs1553249704
|
|
NM_001377299.1(NDUFS2):c.934G>C (p.Asp312His)
|
rs1482687384
|
|
NM_001377405.1(ATXN7):c.112_113insCGCCGC (p.Gln37_Gln38insProPro)
|
rs1216716369
|
|
NM_001377405.1(ATXN7):c.1594G>A (p.Gly532Ser)
|
rs991657534
|
|
NM_001378030.1(CCDC78):c.436-7C>G
|
rs1567323012
|
|
NM_001378183.1(PIEZO2):c.16G>T (p.Val6Leu)
|
rs1568417565
|
|
NM_001378183.1(PIEZO2):c.2170-2A>C
|
rs1598479779
|
|
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)
|
rs2093873520
|
|
NM_001378452.1(ITPR1):c.1928A>G (p.Lys643Arg)
|
rs2094030944
|
|
NM_001378454.1(ALMS1):c.12308_12310del (p.Ala4103_Ile4104delinsVal)
|
rs1553422036
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378615.1(CC2D2A):c.1468C>T (p.Gln490Ter)
|
rs1288358527
|
|
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter)
|
rs1560180188
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs)
|
rs1560184664
|
|
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu)
|
rs1560192615
|
|
NM_001378615.1(CC2D2A):c.4396_4400del (p.Phe1466fs)
|
rs1176927796
|
|
NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter)
|
rs1553845300
|
|
NM_001378615.1(CC2D2A):c.565G>A (p.Glu189Lys)
|
rs1560157691
|
|
NM_001378778.1(MPDZ):c.5567A>C (p.Glu1856Ala)
|
rs199730853
|
|
NM_001379029.1(CERT1):c.-114G>T
|
rs1554048616
|
|
NM_001379029.1(CERT1):c.1301T>G (p.Val434Gly)
|
rs375406284
|
|
NM_001379500.1(COL18A1):c.1158del (p.Gly387fs)
|
rs1438060081
|
|
NM_001379500.1(COL18A1):c.1876C>T (p.Arg626Ter)
|
rs753935209
|
|
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3])
|
rs759403198
|
|
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser)
|
rs1565766177
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.4368-3131A>C
|
rs1564540949
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del)
|
rs753461629
|
|
NM_001384732.1(CPLANE1):c.5738-2A>G
|
rs565629362
|
|
NM_001386298.1(CIC):c.92G>A (p.Arg31Gln)
|
rs1047691694
|
|
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)
|
rs1241995212
|
|
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter)
|
rs1555787799
|
|
NM_001388492.1(HTT):c.8687C>T (p.Ala2896Val)
|
rs1578617337
|
|
NM_001414.4(EIF2B1):c.524T>A (p.Val175Asp)
|
rs1955149380
|
|
NM_001457.4(FLNB):c.199C>T (p.His67Tyr)
|
rs751371914
|
|
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp)
|
rs1553704446
|
|
NM_001458.5(FLNC):c.1199T>C (p.Ile400Thr)
|
rs1562992604
|
|
NM_001458.5(FLNC):c.3266G>T (p.Gly1089Val)
|
rs1258543242
|
|
NM_001458.5(FLNC):c.7486G>T (p.Val2496Phe)
|
rs200295337
|
|
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala)
|
rs1410531577
|
|
NM_001463.4(FRZB):c.282del (p.Ile95fs)
|
rs1553503725
|
|
NM_001482.3(GATM):c.685A>G (p.Ile229Val)
|
rs570670146
|
|
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs)
|
rs768027510
|
|
NM_001492.6(GDF1):c.667dup (p.Ala223fs)
|
rs2055909070
|
|
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg)
|
rs780878780
|
|
NM_001541.4(HSPB2):c.411_417del (p.His138fs)
|
rs1592513163
|
|
NM_001605.3(AARS1):c.1393C>G (p.Leu465Val)
|
rs1555540828
|
|
NM_001655.5(ARCN1):c.1276G>A (p.Asp426Asn)
|
rs781853184
|
|
NM_001673.5(ASNS):c.202C>A (p.Pro68Thr)
|
rs1554350554
|
|
NM_001673.5(ASNS):c.29G>A (p.Ser10Asn)
|
rs1562823595
|
|
NM_001690.4(ATP6V1A):c.1720A>G (p.Met574Val)
|
|
|
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile)
|
rs8192466
|
|
NM_001723.7(DST):c.6048+1G>A
|
rs1330945347
|
|
NM_001770.6(CD19):c.1042T>C (p.Tyr348His)
|
rs1596717340
|
|
NM_001776.6(ENTPD1):c.623C>A (p.Thr208Asn)
|
rs776491594
|
|
NM_001783.4(CD79A):c.419C>T (p.Thr140Ile)
|
rs148797987
|
|
NM_001793.6(CDH3):c.2305C>A (p.Pro769Thr)
|
rs775268226
|
|
NM_001797.4(CDH11):c.1895-599A>T
|
rs2071263125
|
|
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)
|
rs587777534
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001849.4(COL6A2):c.148G>A (p.Val50Met)
|
rs727502826
|
|
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly)
|
rs1568940242
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_001849.4(COL6A2):c.2362C>A (p.Leu788Met)
|
rs1235087612
|
|
NM_001849.4(COL6A2):c.531dup (p.Glu178fs)
|
rs2078415221
|
|
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn)
|
rs878854362
|
|
NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala)
|
rs1555824129
|
|
NM_001866.3(COX7B):c.217A>G (p.Thr73Ala)
|
rs1603367347
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
NM_001875.5(CPS1):c.3701T>A (p.Phe1234Tyr)
|
rs1700804080
|
|
NM_001904.4(CTNNB1):c.1014G>A (p.Trp338Ter)
|
rs1454068577
|
|
NM_001927.4(DES):c.1151A>G (p.His384Arg)
|
rs1553603566
|
|
NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs)
|
rs1553775828
|
|
NM_001982.4(ERBB3):c.3567AGA[2] (p.Glu1191del)
|
rs780883720
|
|
NM_002016.2(FLG):c.5170G>T (p.Gly1724Ter)
|
rs747301529
|
|
NM_002016.2(FLG):c.6032_6034del (p.Leu2011del)
|
rs770070270
|
|
NM_002016.2(FLG):c.8885del (p.Gln2962fs)
|
rs1570897758
|
|
NM_002055.5(GFAP):c.930G>A (p.Met310Ile)
|
rs755602073
|
|
NM_002074.5(GNB1):c.34G>A (p.Glu12Lys)
|
rs1570674859
|
|
NM_002087.4(GRN):c.1438C>T (p.His480Tyr)
|
rs770058074
|
|
NM_002156.5(HSPD1):c.355C>G (p.Leu119Val)
|
rs1398446799
|
|
NM_002199.4(IRF2):c.88_89del (p.Glu30fs)
|
rs1554014177
|
|
NM_002206.3(ITGA7):c.2182del (p.Ala728fs)
|
rs1565622052
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
|
rs1890589984
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
NM_002241.5(KCNJ10):c.922G>C (p.Gly308Arg)
|
rs1557967657
|
|
NM_002283.4(KRT85):c.823T>C (p.Ser275Pro)
|
rs1592141626
|
|
NM_002291.3(LAMB1):c.2684G>A (p.Cys895Tyr)
|
rs1554406824
|
|
NM_002291.3(LAMB1):c.4393G>A (p.Val1465Ile)
|
rs1554402678
|
|
NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser)
|
rs199646967
|
|
NM_002292.4(LAMB2):c.2884+5G>A
|
rs1560073017
|
|
NM_002334.4(LRP4):c.3346G>A (p.Glu1116Lys)
|
rs1253557298
|
|
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly)
|
rs886040977
|
|
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr)
|
rs1057519574
|
|
NM_002335.4(LRP5):c.4489-2A>G
|
rs1057519575
|
|
NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr)
|
rs2098630548
|
|
NM_002361.4(MAG):c.1324G>A (p.Val442Met)
|
rs760644405
|
|
NM_002414.5(CD99):c.539G>C (p.Arg180Pro)
|
rs150825051
|
|
NM_002439.5(MSH3):c.189_190insGCAGCGGCCGCAGCGCCCGCAGCGCCC (p.Pro63_Pro64insAlaAlaAlaAlaAlaProAlaAlaPro)
|
rs1554066076
|
|
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter)
|
rs1554006017
|
|
NM_002460.4(IRF4):c.1089G>T (p.Gln363His)
|
rs901736609
|
|
NM_002461.3(MVD):c.128T>C (p.Leu43Pro)
|
rs1597381715
|
|
NM_002470.4(MYH3):c.248C>G (p.Pro83Arg)
|
rs199513213
|
|
NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln)
|
rs1567553702
|
|
NM_002470.4(MYH3):c.4826G>A (p.Arg1609Lys)
|
rs1555525264
|
|
NM_002470.4(MYH3):c.605_606insCCTCCTCTGTCCCTACACCTCATACCCCTCCTGGCCCCCGGCGGAGGCCCAGGCCCAGGCATCAGCCCTAACACTCCCTTCTTGCCAGCAGGAGTTCTGTTACGAGATCAAGCA (p.Thr202_Gly203insLeuLeuCysProTyrThrSerTyrProSerTrpProProAlaGluAlaGlnAlaGlnAlaSerAlaLeuThrLeuProSerCysGlnGlnGluPheCysTyrGluIleLysHis)
|
|
|
NM_002473.6(MYH9):c.4747AAG[2] (p.Lys1585del)
|
rs770925540
|
|
NM_002487.3(NDN):c.533G>A (p.Arg178Lys)
|
rs1555376130
|
|
NM_002496.4(NDUFS8):c.484G>A (p.Val162Met)
|
rs1277027467
|
|
NM_002578.5(PAK3):c.534AGA[4] (p.Glu182del)
|
rs749370794
|
|
NM_002582.4(PARN):c.49C>T (p.Gln17Ter)
|
rs1972905468
|
|
NM_002618.4(PEX13):c.383G>T (p.Gly128Val)
|
rs554152771
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)
|
rs1064794609
|
|
NM_002778.4(PSAP):c.778-1889C>T
|
rs1842351095
|
|
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)
|
rs397507506
|
|
NM_002840.5(PTPRF):c.4832G>T (p.Gly1611Val)
|
rs779426523
|
|
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)
|
rs762271422
|
|
NM_002863.5(PYGL):c.298_307del (p.Met100fs)
|
rs1555328280
|
|
NM_002872.5(RAC2):c.108-8C>G
|
rs1601672720
|
|
NM_002887.4(RARS1):c.2T>C (p.Met1Thr)
|
rs769713780
|
|
NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly)
|
rs1555475415
|
|
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly)
|
rs1556430522
|
|
NM_003038.5(SLC1A4):c.1364+1G>A
|
rs1558529034
|
|
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His)
|
rs1378076282
|
|
NM_003041.4(SLC5A2):c.655+6G>C
|
rs779984246
|
|
NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter)
|
rs1554086010
|
|
NM_003060.4(SLC22A5):c.394-141T>C
|
rs1561566541
|
|
NM_003070.5(SMARCA2):c.2831C>T (p.Pro944Leu)
|
|
|
NM_003070.5(SMARCA2):c.31C>A (p.Pro11Thr)
|
rs145516397
|
|
NM_003072.5(SMARCA4):c.584C>A (p.Pro195His)
|
rs1568422604
|
|
NM_003124.4(SPR):c.596del
|
rs1553498582
|
|
NM_003172.4(SURF1):c.792_793del (p.Arg264fs)
|
rs782490558
|
|
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs)
|
rs1588688823
|
|
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs)
|
rs1554768224
|
|
NM_003193.5(TBCE):c.332T>G (p.Val111Gly)
|
rs1553336397
|
|
NM_003246.4(THBS1):c.1361G>C (p.Gly454Ala)
|
rs770788788
|
|
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys)
|
rs1556794074
|
|
NM_003482.3(KMT2D):c.1893_1919del (p.Asp632_Glu640del)
|
rs759377845
|
|
NM_003482.4(KMT2D):c.11717_11752del (p.3900LQQQQQ[1])
|
rs1415174573
|
|
NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter)
|
rs1555187117
|
|
NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs)
|
rs1555988204
|
|
NM_003560.4(PLA2G6):c.1743-1G>C
|
rs1555979401
|
|
NM_003560.4(PLA2G6):c.2248T>C (p.Cys750Arg)
|
rs1569239288
|
|
NM_003560.4(PLA2G6):c.834G>C (p.Gln278His)
|
rs1556010444
|
|
NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro)
|
rs1569264087
|
|
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn)
|
rs199935023
|
|
NM_003638.3(ITGA8):c.537C>A (p.Ser179Arg)
|
rs748467820
|
|
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro)
|
rs1554699019
|
|
NM_003673.4(TCAP):c.1A>G (p.Met1Val)
|
rs1567864804
|
|
NM_003737.4(DCHS1):c.5821A>G (p.Ser1941Gly)
|
rs1564861778
|
|
NM_003737.4(DCHS1):c.7348del (p.Val2450fs)
|
rs1855757730
|
|
NM_003741.4(CHRD):c.147del (p.Gly50fs)
|
rs1560294370
|
|
NM_003742.4(ABCB11):c.3326T>C (p.Leu1109Pro)
|
rs1553545883
|
|
NM_003742.4(ABCB11):c.998T>A (p.Ile333Asn)
|
rs1558909465
|
|
NM_003748.4(ALDH4A1):c.658G>C (p.Ala220Pro)
|
rs778113718
|
|
NM_003786.4(ABCC3):c.428T>C (p.Leu143Pro)
|
rs1567828794
|
|
NM_003805.5(CRADD):c.298+59160del
|
rs1956612435
|
|
NM_003816.3(ADAM9):c.639T>G (p.Tyr213Ter)
|
rs1836637522
|
|
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn)
|
rs397515462
|
|
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val)
|
rs1555256440
|
|
NM_003896.4(ST3GAL5):c.479C>A (p.Pro160His)
|
rs1553405319
|
|
NM_003900.5(SQSTM1):c.213C>G (p.Asp71Glu)
|
rs780842511
|
|
NM_003982.4(SLC7A7):c.1095+2del
|
rs1555320639
|
|
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)
|
rs386833811
|
|
NM_003995.4(NPR2):c.2713G>T (p.Val905Leu)
|
rs1357724443
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)
|
rs1569563678
|
|
NM_004006.3(DMD):c.4115C>T (p.Ala1372Val)
|
rs759108067
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
NM_004070.4(CLCNKA):c.1613G>C (p.Arg538Pro)
|
rs762119830
|
|
NM_004070.4(CLCNKA):c.17G>A (p.Gly6Glu)
|
rs773206825
|
|
NM_004101.4(F2RL2):c.160del (p.Ser54fs)
|
rs755031524
|
|
NM_004130.4(GYG1):c.866G>T (p.Gly289Val)
|
rs1553733613
|
|
NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile)
|
rs1569920188
|
|
NM_004168.4(SDHA):c.1794+105dup
|
rs1561011159
|
|
NM_004177.5(STX3):c.589C>T (p.Arg197Ter)
|
rs746797808
|
|
NM_004187.5(KDM5C):c.*129C>T
|
rs1602156447
|
|
NM_004260.4(RECQL4):c.1396C>T (p.Pro466Ser)
|
rs562809072
|
|
NM_004273.5(CHST3):c.680C>G (p.Ser227Cys)
|
rs1554817549
|
|
NM_004309.6(ARHGDIA):c.*65dup
|
rs757131763
|
|
NM_004327.4(BCR):c.1034_1036del (p.Phe345del)
|
rs1569234190
|
|
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val)
|
rs1562957000
|
|
NM_004360.5(CDH1):c.437C>G (p.Ser146Cys)
|
rs751425296
|
|
NM_004369.4(COL6A3):c.2277T>G (p.Tyr759Ter)
|
rs1559257971
|
|
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)
|
rs189356869
|
|
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)
|
rs755536829
|
|
NM_004380.3(CREBBP):c.3061-1G>T
|
rs1555481030
|
|
NM_004409.5(DMPK):c.1789G>A (p.Val597Ile)
|
rs1310210930
|
|
NM_004409.5(DMPK):c.395C>G (p.Thr132Arg)
|
rs1600444823
|
|
NM_004409.5(DMPK):c.931C>T (p.Arg311Ter)
|
rs762280354
|
|
NM_004425.4(ECM1):c.1393-1G>T
|
rs1560267428
|
|
NM_004429.5(EFNB1):c.749T>G (p.Ile250Ser)
|
rs1569398326
|
|
NM_004431.5(EPHA2):c.205G>A (p.Val69Met)
|
rs994302854
|
|
NM_004431.5(EPHA2):c.77G>T (p.Gly26Val)
|
rs1557520529
|
|
NM_004453.4(ETFDH):c.1325C>T (p.Ser442Leu)
|
rs1442766122
|
|
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter)
|
rs122453121
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
NM_004522.3(KIF5C):c.1190C>G (p.Pro397Arg)
|
rs1574802637
|
|
NM_004522.3(KIF5C):c.1771A>G (p.Ile591Val)
|
|
|
NM_004525.3(LRP2):c.5287C>T (p.Pro1763Ser)
|
rs1559027696
|
|
NM_004530.6(MMP2):c.1648C>T (p.Arg550Ter)
|
rs1962580119
|
|
NM_004531.5(MOCS2):c.2T>G (p.Met1Arg)
|
rs772575104
|
|
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)
|
rs1555924331
|
|
NM_004595.5(SMS):c.13C>G (p.Arg5Gly)
|
rs1921698887
|
|
NM_004623.5(TTC4):c.944A>G (p.Asp315Gly)
|
rs1557751181
|
|
NM_004629.2(FANCG):c.84+53G>T
|
rs1563987651
|
|
NM_004667.6(HERC2):c.6287T>C (p.Leu2096Pro)
|
rs1596251854
|
|
NM_004667.6(HERC2):c.6335C>T (p.Ser2112Phe)
|
rs542163867
|
|
NM_004667.6(HERC2):c.7707_7708dup (p.Asn2570fs)
|
rs1596207451
|
|
NM_004667.6(HERC2):c.9638G>A (p.Gly3213Glu)
|
rs1596133088
|
|
NM_004667.6(HERC2):c.9710T>A (p.Leu3237Ter)
|
rs1555415658
|
|
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu)
|
rs760907496
|
|
NM_004827.3(ABCG2):c.419del (p.Leu140fs)
|
rs1553935607
|
|
NM_004830.4(MED23):c.670C>G (p.Arg224Gly)
|
rs1293450628
|
|
NM_004863.4(SPTLC2):c.1546C>T (p.His516Tyr)
|
rs1555372980
|
|
NM_004977.3(KCNC3):c.11_12del (p.Ser4fs)
|
rs1555781806
|
|
NM_005013.2(NUCB2):c.-427A>C
|
rs186174
|
|
NM_005051.3(QARS1):c.2085-3C>A
|
rs1024765171
|
|
NM_005084.4(PLA2G7):c.680_681dup (p.Glu228fs)
|
rs1554182722
|
|
NM_005101.4(ISG15):c.247_255del (p.Ser83_Leu85del)
|
rs1644249922
|
|
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)
|
rs767827315
|
|
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)
|
rs786200971
|
|
NM_005154.5(USP8):c.2971C>T (p.Arg991Ter)
|
rs2052448846
|
|
NM_005198.5(CHKB):c.382G>T (p.Glu128Ter)
|
rs1569054086
|
|
NM_005198.5(CHKB):c.860A>C (p.Asp287Ala)
|
rs1569052732
|
|
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser)
|
rs201433617
|
|
NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter)
|
rs369494682
|
|
NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu)
|
rs587783638
|
|
NM_005333.5(HCCS):c.199C>A (p.Pro67Thr)
|
rs1413276234
|
|
NM_005359.6(SMAD4):c.1308+2T>C
|
rs1555686624
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005502.4(ABCA1):c.4799A>T (p.His1600Leu)
|
rs1554704214
|
|
NM_005502.4(ABCA1):c.5347G>T (p.Val1783Leu)
|
rs780534377
|
|
NM_005529.7(HSPG2):c.1193G>A (p.Ser398Asn)
|
rs1553171928
|
|
NM_005529.7(HSPG2):c.4314+4A>T
|
rs1553166653
|
|
NM_005559.4(LAMA1):c.2216G>A (p.Cys739Tyr)
|
rs1555656402
|
|
NM_005559.4(LAMA1):c.2663G>T (p.Gly888Val)
|
rs1555654766
|
|
NM_005609.4(PYGM):c.1044del (p.Glu349fs)
|
rs1592412131
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005619.5(RTN2):c.938dup (p.Thr314fs)
|
rs748397131
|
|
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
|
rs397517154
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
NM_005660.3(SLC35A2):c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu)
|
rs1557042706
|
|
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys)
|
rs767956337
|
|
NM_005732.4(RAD50):c.3766C>A (p.Arg1256Ser)
|
rs561655417
|
|
NM_005763.4(AASS):c.33G>T (p.Arg11Ser)
|
rs780915761
|
|
NM_005765.3(ATP6AP2):c.452T>C (p.Leu151Ser)
|
|
|
NM_005866.4(SIGMAR1):c.416G>T (p.Gly139Val)
|
rs1270528470
|
|
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg)
|
rs1553951373
|
|
NM_005956.4(MTHFD1):c.1843_1844dup (p.Met615fs)
|
|
|
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter)
|
rs986604359
|
|
NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser)
|
rs1553187509
|
|
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr)
|
rs769381688
|
|
NM_005989.4(AKR1D1):c.267G>A (p.Trp89Ter)
|
rs1236669456
|
|
NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter)
|
rs770247815
|
|
NM_005993.5(TBCD):c.1537G>A (p.Ala513Thr)
|
rs1567966866
|
|
NM_005993.5(TBCD):c.2137C>G (p.His713Asp)
|
rs200903034
|
|
NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)
|
rs1553876668
|
|
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter)
|
rs530749007
|
|
NM_006031.6(PCNT):c.3418CTC[1] (p.Leu1141del)
|
rs759470656
|
|
NM_006031.6(PCNT):c.607del (p.His203fs)
|
rs767416279
|
|
NM_006059.4(LAMC3):c.2125T>C (p.Cys709Arg)
|
rs1564379378
|
|
NM_006073.4(TRDN):c.22+1G>T
|
rs1290195833
|
|
NM_006182.4(DDR2):c.2387A>T (p.Gln796Leu)
|
rs1558083144
|
|
NM_006218.4(PIK3CA):c.407dup (p.Gln137fs)
|
rs1560137609
|
|
NM_006231.4(POLE):c.6757G>C (p.Glu2253Gln)
|
rs376140352
|
|
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val)
|
rs1064794719
|
|
NM_006277.3(ITSN2):c.4208A>G (p.Asp1403Gly)
|
rs1553340826
|
|
NM_006297.3(XRCC1):c.764AGA[1] (p.Lys256del)
|
rs777476390
|
|
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn)
|
rs2075680329
|
|
NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu)
|
rs1556885815
|
|
NM_006343.3(MERTK):c.584-1G>T
|
rs1553449458
|
|
NM_006348.5(COG5):c.487C>T (p.Gln163Ter)
|
rs1231928102
|
|
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe)
|
rs1457758264
|
|
NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu)
|
rs758719669
|
|
NM_006420.3(ARFGEF2):c.3262G>A (p.Val1088Ile)
|
rs1568729284
|
|
NM_006424.3(SLC34A2):c.1451C>A (p.Ser484Ter)
|
|
|
NM_006432.5(NPC2):c.157C>T (p.Gln53Ter)
|
rs2086712337
|
|
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)
|
rs1593910113
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.398T>G (p.Met133Arg)
|
rs1419308949
|
|
NM_006496.4(GNAI3):c.146T>C (p.Ile49Thr)
|
rs1553223899
|
|
NM_006513.4(SARS1):c.950G>A (p.Arg317Gln)
|
rs1412278011
|
|
NM_006517.5(SLC16A2):c.1170+4_1170+7del
|
rs1555989846
|
|
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys)
|
rs933036653
|
|
NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp)
|
rs1930457917
|
|
NM_006545.5(NPRL2):c.602A>C (p.Asp201Ala)
|
rs202157450
|
|
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)
|
rs267606947
|
|
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)
|
rs397515335
|
|
NM_006766.5(KAT6A):c.5560C>T (p.His1854Tyr)
|
rs1587706129
|
|
NM_006772.3(SYNGAP1):c.1544G>A (p.Arg515His)
|
rs1294935709
|
|
NM_006772.3(SYNGAP1):c.1998G>C (p.Glu666Asp)
|
rs1561787401
|
|
NM_006796.3(AFG3L2):c.1164+1G>A
|
rs1598832526
|
|
NM_006828.4(ASCC3):c.176A>C (p.Glu59Ala)
|
rs757903799
|
|
NM_006846.4(SPINK5):c.1712_1714del (p.Arg571del)
|
rs1554105558
|
|
NM_006907.4(PYCR1):c.139-3C>G
|
rs1567926235
|
|
NM_006940.6(SOX5):c.1050G>C (p.Gln350His)
|
rs1566239985
|
|
NM_006949.4(STXBP2):c.1198_1199insGGCCCG (p.Pro399_Ala400insGlyPro)
|
rs1568469885
|
|
NM_007055.4(POLR3A):c.2287G>A (p.Ala763Thr)
|
rs755825816
|
|
NM_007059.4(KPTN):c.423C>G (p.Phe141Leu)
|
rs927688047
|
|
NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile)
|
rs1235686151
|
|
NM_007121.7(NR1H2):c.950G>A (p.Arg317Lys)
|
rs1568595477
|
|
NM_007194.4(CHEK2):c.924G>T (p.Glu308Asp)
|
rs1601739269
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007255.3(B4GALT7):c.277dup (p.His93fs)
|
rs879255634
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1568del (p.Leu523fs)
|
rs1555591543
|
|
NM_007294.4(BRCA1):c.1684dup (p.Ile562fs)
|
rs2053901114
|
|
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.2649_2650insGGCA (p.Thr884fs)
|
rs886038003
|
|
NM_007294.4(BRCA1):c.2649_2650insGGCT (p.Thr884fs)
|
rs2053722405
|
|
NM_007294.4(BRCA1):c.2686dup (p.Ser896fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.302-1G>A
|
rs80358116
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.4097-141A>C
|
rs799916
|
|
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter)
|
rs80357229
|
|
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)
|
rs1799966
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu)
|
rs1554770589
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
NM_007347.5(AP4E1):c.206C>T (p.Ala69Val)
|
rs1596450585
|
|
NM_007347.5(AP4E1):c.2234_2235dup (p.Thr746Ter)
|
rs1555462184
|
|
NM_012062.5(DNM1L):c.1255C>T (p.Arg419Trp)
|
rs776779003
|
|
NM_012073.5(CCT5):c.267G>C (p.Lys89Asn)
|
rs1554010636
|
|
NM_012123.4(MTO1):c.97del (p.Arg33fs)
|
rs1582666067
|
|
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter)
|
rs1553444644
|
|
NM_012330.4(KAT6B):c.3343A>C (p.Lys1115Gln)
|
rs1845483899
|
|
NM_012418.4(FSCN2):c.1226A>G (p.Tyr409Cys)
|
rs1598582453
|
|
NM_013254.4(TBK1):c.290T>A (p.Val97Asp)
|
rs1565813507
|
|
NM_013275.6(ANKRD11):c.6052_6060del (p.Pro2018_Ala2020del)
|
rs775221712
|
|
NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs)
|
rs1553216524
|
|
NM_013382.7(POMT2):c.334-3C>A
|
rs1566658848
|
|
NM_013391.3(DMGDH):c.2122G>A (p.Asp708Asn)
|
rs745629468
|
|
NM_014049.5(ACAD9):c.1344_1348dup (p.Thr450fs)
|
rs1576347955
|
|
NM_014049.5(ACAD9):c.959-3C>G
|
rs1553731751
|
|
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala)
|
rs775587493
|
|
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe)
|
rs1554596418
|
|
NM_014112.5(TRPS1):c.2503G>A (p.Glu835Lys)
|
rs764414669
|
|
NM_014141.6(CNTNAP2):c.97+1G>A
|
rs972116002
|
|
NM_014159.7(SETD2):c.3176G>A (p.Ser1059Asn)
|
rs558262802
|
|
NM_014226.3(MOK):c.630_631dup (p.Ile211fs)
|
rs769431982
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014236.4(GNPAT):c.289G>A (p.Asp97Asn)
|
rs1558331190
|
|
NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer)
|
rs786205258
|
|
NM_014336.5(AIPL1):c.294del (p.Ile99fs)
|
rs1597331616
|
|
NM_014362.4(HIBCH):c.452C>T (p.Ser151Leu)
|
rs1553501873
|
|
NM_014363.6(SACS):c.10644del (p.Phe3548fs)
|
rs1555250160
|
|
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)
|
rs1360298758
|
|
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter)
|
rs1555252345
|
|
NM_014365.3(HSPB8):c.419C>T (p.Thr140Ile)
|
rs1954680920
|
|
NM_014398.4(LAMP3):c.1172_1173del (p.Val391fs)
|
rs1553873737
|
|
NM_014467.3(SRPX2):c.1183C>T (p.Gln395Ter)
|
rs771849296
|
|
NM_014593.4(CXXC1):c.1574+1G>C
|
rs1568303427
|
|
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)
|
rs528833893
|
|
NM_014629.4(ARHGEF10):c.3964_3965dup (p.Arg1323fs)
|
rs1563343679
|
|
NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp)
|
rs746252249
|
|
NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer)
|
rs1590962541
|
|
NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter)
|
rs953298656
|
|
NM_014738.6(TMEM94):c.1600C>T (p.Gln534Ter)
|
rs2052296892
|
|
NM_014780.5(CUL7):c.4120GAG[2] (p.Glu1376del)
|
rs774299493
|
|
NM_014844.5(TECPR2):c.1568del (p.Ser523fs)
|
rs1555451465
|
|
NM_014845.6(FIG4):c.1835C>T (p.Thr612Ile)
|
rs780595685
|
|
NM_014845.6(FIG4):c.290-2A>G
|
rs587777715
|
|
NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly)
|
rs1266361856
|
|
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)
|
rs369140232
|
|
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup)
|
rs1555437965
|
|
NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter)
|
rs1569261319
|
|
NM_014946.4(SPAST):c.312_317dup (p.104AP[3])
|
rs747993450
|
|
NM_014953.5(DIS3):c.1806G>A (p.Met602Ile)
|
rs1413258245
|
|
NM_014956.5(CEP164):c.2562del (p.Met854fs)
|
rs1565582604
|
|
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)
|
rs572772837
|
|
NM_015046.7(SETX):c.5024del (p.Pro1675fs)
|
rs1554820021
|
|
NM_015087.5(SPART):c.1450dup (p.Thr484fs)
|
rs730882198
|
|
NM_015100.4(POGZ):c.1866_1867dup (p.Tyr623fs)
|
rs1553216467
|
|
NM_015100.4(POGZ):c.3727C>G (p.Leu1243Val)
|
|
|
NM_015114.3(ANKLE2):c.1060G>A (p.Val354Met)
|
rs117750374
|
|
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del)
|
rs55889738
|
|
NM_015166.4(MLC1):c.404T>C (p.Leu135Pro)
|
rs1258044054
|
|
NM_015192.4(PLCB1):c.1940G>T (p.Gly647Val)
|
rs1555786704
|
|
NM_015214.3(DDHD2):c.1528G>A (p.Gly510Arg)
|
rs1563311817
|
|
NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr)
|
rs1568017495
|
|
NM_015335.5(MED13L):c.601C>G (p.Gln201Glu)
|
|
|
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly)
|
rs28940309
|
|
NM_015338.6(ASXL1):c.4109AGA[1] (p.Lys1371del)
|
rs752856195
|
|
NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del)
|
rs1203207717
|
|
NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu)
|
rs201376188
|
|
NM_015386.3(COG4):c.73G>T (p.Gly25Ter)
|
rs1249789100
|
|
NM_015404.4(WHRN):c.1469G>A (p.Arg490His)
|
rs587776360
|
|
NM_015426.5(POC1A):c.836T>G (p.Phe279Cys)
|
rs1559836324
|
|
NM_015443.4(KANSL1):c.1648A>G (p.Asn550Asp)
|
rs1555746270
|
|
NM_015559.3(SETBP1):c.4771G>A (p.Glu1591Lys)
|
rs759235645
|
|
NM_015634.4(KIFBP):c.976C>T (p.Gln326Ter)
|
rs1293340864
|
|
NM_015662.3(IFT172):c.3475G>T (p.Glu1159Ter)
|
rs748244135
|
|
NM_015665.5(AAAS):c.936_937delAG
|
rs1592513048
|
|
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu)
|
rs1553453961
|
|
NM_015915.5(ATL1):c.1111dup (p.Met371fs)
|
rs1566733927
|
|
NM_015937.6(PIGT):c.347T>A (p.Phe116Tyr)
|
rs534024741
|
|
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro)
|
rs1555876854
|
|
NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn)
|
rs1559412343
|
|
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)
|
rs1163170578
|
|
NM_016121.5(KCTD3):c.237del (p.Thr80fs)
|
rs1558228402
|
|
NM_016138.5(COQ7):c.9C>A (p.Cys3Ter)
|
rs369616615
|
|
NM_016173.5(HEMK1):c.770+2T>C
|
rs1429859720
|
|
NM_016218.6(POLK):c.410C>T (p.Ser137Phe)
|
rs863225454
|
|
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs)
|
rs750130520
|
|
NM_016284.5(CNOT1):c.4434+183dup
|
rs5817153
|
|
NM_016327.3(UPB1):c.1099C>G (p.Arg367Gly)
|
rs542324398
|
|
NM_016614.3(TDP2):c.4G>T (p.Glu2Ter)
|
rs770844602
|
|
NM_016628.5(WAC):c.1746+1G>A
|
rs1554791975
|
|
NM_016648.4(LARP7):c.552+31A>G
|
rs1554011434
|
|
NM_016734.3(PAX5):c.435G>C (p.Gln145His)
|
rs758368747
|
|
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys)
|
rs761656636
|
|
NM_017433.5(MYO3A):c.1716C>A (p.Phe572Leu)
|
rs751693978
|
|
NM_017547.4(FOXRED1):c.209G>C (p.Gly70Ala)
|
rs1950986906
|
|
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser)
|
rs1555065162
|
|
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala)
|
rs536400690
|
|
NM_017565.4(FAM20A):c.885del (p.Thr296fs)
|
rs1568724130
|
|
NM_017570.5(OPLAH):c.3352G>C (p.Glu1118Gln)
|
rs1426386645
|
|
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)
|
rs146664036
|
|
NM_017613.4(DONSON):c.1563+1G>T
|
rs534299298
|
|
NM_017654.4(SAMD9):c.2159del (p.Asn720fs)
|
rs753146043
|
|
NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr)
|
rs778749748
|
|
NM_017654.4(SAMD9):c.2470C>T (p.Arg824Ter)
|
rs1186536794
|
|
NM_017662.5(TRPM6):c.5104del (p.Ser1702fs)
|
rs1825954906
|
|
NM_017668.3(NDE1):c.940G>C (p.Asp314His)
|
rs1567660670
|
|
NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys)
|
rs1568405628
|
|
NM_017739.4(POMGNT1):c.1161G>T (p.Lys387Asn)
|
rs1571656916
|
|
NM_017739.4(POMGNT1):c.355-3T>G
|
rs1553163972
|
|
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile)
|
rs775459114
|
|
NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1])
|
rs747665912
|
|
NM_017882.3(CLN6):c.185G>A (p.Arg62His)
|
rs751486476
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_017934.7(PHIP):c.705T>G (p.Tyr235Ter)
|
rs1562189451
|
|
NM_018006.5(TRMU):c.844A>G (p.Lys282Glu)
|
rs1441777972
|
|
NM_018060.4(IARS2):c.1504A>C (p.Ile502Leu)
|
rs747014267
|
|
NM_018082.6(POLR3B):c.2013dup (p.Ile672fs)
|
rs2037697286
|
|
NM_018082.6(POLR3B):c.3301G>A (p.Val1101Met)
|
rs1368448476
|
|
NM_018122.5(DARS2):c.20T>A (p.Leu7Ter)
|
rs1553200766
|
|
NM_018136.5(ASPM):c.5326A>G (p.Lys1776Glu)
|
rs1553223646
|
|
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer)
|
rs1334301723
|
|
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter)
|
rs763909256
|
|
NM_018238.4(AGK):c.223A>G (p.Lys75Glu)
|
rs1376867262
|
|
NM_018249.6(CDK5RAP2):c.5152del (p.Leu1718fs)
|
rs2033156861
|
|
NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr)
|
rs773402627
|
|
NM_018341.3(ERMARD):c.1072del (p.Asp358fs)
|
rs1371239720
|
|
NM_018344.6(SLC29A3):c.122del (p.Pro41fs)
|
rs749946303
|
|
NM_018367.7(ACER3):c.607C>T (p.Arg203Ter)
|
rs782709009
|
|
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr)
|
rs1554953926
|
|
NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter)
|
rs11542638
|
|
NM_018684.4(ZC4H2):c.375AGA[1] (p.Glu128del)
|
rs750367160
|
|
NM_018706.7(DHTKD1):c.1573G>A (p.Gly525Ser)
|
rs1588612342
|
|
NM_018706.7(DHTKD1):c.467dup (p.Thr157fs)
|
rs1554791360
|
|
NM_018896.5(CACNA1G):c.4151G>A (p.Arg1384Gln)
|
rs1260560600
|
|
NM_018896.5(CACNA1G):c.4972T>C (p.Ser1658Pro)
|
rs1555565684
|
|
NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu)
|
rs1567964995
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
NM_018979.4(WNK1):c.2187G>A (p.Gly729=)
|
rs759764709
|
|
NM_019023.5(PRMT7):c.1949A>G (p.Tyr650Cys)
|
rs1033540334
|
|
NM_019842.4(KCNQ5):c.1501G>A (p.Asp501Asn)
|
rs1582480404
|
|
NM_019892.6(INPP5E):c.1034+3A>T
|
rs1564433976
|
|
NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr)
|
rs1463766241
|
|
NM_020166.5(MCCC1):c.794A>G (p.His265Arg)
|
rs759707763
|
|
NM_020247.5(COQ8A):c.1396del (p.Glu466fs)
|
rs1553280621
|
|
NM_020366.4(RPGRIP1):c.3467_3468insCT (p.Thr1156_Glu1157insTer)
|
rs776698746
|
|
NM_020366.4(RPGRIP1):c.3617+1G>A
|
rs771116776
|
|
NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu)
|
rs142588621
|
|
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs)
|
rs782439454
|
|
NM_020435.4(GJC2):c.193_195del (p.Asn65del)
|
rs1558119525
|
|
NM_020442.6(VARS2):c.1637A>T (p.Glu546Val)
|
rs761726567
|
|
NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg)
|
rs773482888
|
|
NM_020442.6(VARS2):c.3098C>T (p.Ser1033Phe)
|
rs1562465419
|
|
NM_020461.4(TUBGCP6):c.4562G>A (p.Arg1521Gln)
|
rs748632851
|
|
NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro)
|
rs1554393418
|
|
NM_020655.4(JPH3):c.955C>T (p.Arg319Trp)
|
rs148131421
|
|
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val)
|
rs1554969894
|
|
NM_020708.5(SLC12A5):c.2545A>G (p.Lys849Glu)
|
rs1568867619
|
|
NM_020717.5(SHROOM4):c.2672G>T (p.Ser891Ile)
|
rs1569546782
|
|
NM_020751.3(COG6):c.1138CTC[1] (p.Leu381del)
|
rs756077038
|
|
NM_020751.3(COG6):c.1746+2T>G
|
rs1555280464
|
|
NM_020779.4(WDR35):c.2874G>T (p.Lys958Asn)
|
rs1558328135
|
|
NM_020812.4(DOCK6):c.4824_4828del (p.Glu1609fs)
|
rs1555826472
|
|
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His)
|
rs1182743416
|
|
NM_020919.4(ALS2):c.4382G>T (p.Arg1461Leu)
|
rs758889641
|
|
NM_020928.2(ZSWIM6):c.2491G>C (p.Glu831Gln)
|
|
|
NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del)
|
rs772099709
|
|
NM_020987.5(ANK3):c.2902G>C (p.Asp968His)
|
rs730882195
|
|
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val)
|
rs886041766
|
|
NM_020988.3(GNAO1):c.448A>C (p.Asn150His)
|
rs2037660713
|
|
NM_020998.4(MST1):c.55C>T (p.Pro19Ser)
|
rs62262686
|
|
NM_021072.4(HCN1):c.1201G>C (p.Asp401His)
|
rs587777491
|
|
NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser)
|
rs1561081327
|
|
NM_021252.5(RAB18):c.549del (p.Gly184fs)
|
rs1834935337
|
|
NM_021267.5(CERS1):c.274C>T (p.Gln92Ter)
|
rs561672108
|
|
NM_021628.3(ALOXE3):c.1252G>T (p.Ala418Ser)
|
rs1979916239
|
|
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val)
|
rs1590020571
|
|
NM_021939.4(FKBP10):c.976del (p.Met326fs)
|
rs869025223
|
|
NM_021942.6(TRAPPC11):c.581A>G (p.Glu194Gly)
|
rs1554007320
|
|
NM_021942.6(TRAPPC11):c.902T>G (p.Leu301Trp)
|
rs1554007926
|
|
NM_021971.4(GMPPB):c.951+28_951+29insGGGGGGGGGC
|
rs2080417973
|
|
NM_022041.4(GAN):c.314T>C (p.Val105Ala)
|
rs761334418
|
|
NM_022095.4(ZNF335):c.235C>T (p.Pro79Ser)
|
rs768996558
|
|
NM_022114.4(PRDM16):c.3208G>A (p.Asp1070Asn)
|
rs867029514
|
|
NM_022117.4(TSPYL2):c.520GATGAG[2] (p.174DE[2])
|
rs782085354
|
|
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn)
|
rs1554857840
|
|
NM_022124.6(CDH23):c.4104+15del
|
rs1839422034
|
|
NM_022124.6(CDH23):c.8239del (p.Val2747fs)
|
rs1554877007
|
|
NM_022132.5(MCCC2):c.440C>T (p.Pro147Leu)
|
rs1474201425
|
|
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter)
|
rs774888783
|
|
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs)
|
rs774076578
|
|
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro)
|
rs74162087
|
|
NM_022168.4(IFIH1):c.3020C>A (p.Pro1007His)
|
rs1690942194
|
|
NM_022168.4(IFIH1):c.716dup (p.Met240fs)
|
rs1558875029
|
|
NM_022336.4(EDAR):c.1024+16del
|
rs3833574
|
|
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)
|
rs121908453
|
|
NM_022336.4(EDAR):c.278G>C (p.Cys93Ser)
|
rs1553448320
|
|
NM_022336.4(EDAR):c.731-62T>C
|
rs535840595
|
|
NM_022356.4(P3H1):c.646_650del (p.Tyr216fs)
|
rs1553143142
|
|
NM_022369.4(STRA6):c.438G>A (p.Trp146Ter)
|
rs2073766224
|
|
NM_022454.4(SOX17):c.456G>C (p.Glu152Asp)
|
rs1554579184
|
|
NM_022455.5(NSD1):c.7352G>C (p.Arg2451Thr)
|
rs200115665
|
|
NM_022455.5(NSD1):c.7976C>T (p.Ala2659Val)
|
rs1562312270
|
|
NM_022481.6(ARAP3):c.3805C>T (p.Arg1269Trp)
|
rs539283748
|
|
NM_022773.4(LMF1):c.291C>G (p.Tyr97Ter)
|
rs1237709439
|
|
NM_022835.3(PLEKHG2):c.1042A>G (p.Lys348Glu)
|
rs1600652197
|
|
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter)
|
rs1574796091
|
|
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)
|
rs672601359
|
|
NM_023110.3(FGFR1):c.91+1G>A
|
rs1563626890
|
|
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)
|
rs200888240
|
|
NM_024312.5(GNPTAB):c.100G>C (p.Ala34Pro)
|
rs1555277061
|
|
NM_024312.5(GNPTAB):c.3250-2A>G
|
rs875989952
|
|
NM_024408.4(NOTCH2):c.1957C>A (p.Pro653Thr)
|
rs1553198769
|
|
NM_024537.4(CARS2):c.1629A>C (p.Arg543Ser)
|
rs1594195081
|
|
NM_024577.4(SH3TC2):c.1138G>A (p.Gly380Arg)
|
rs761184149
|
|
NM_024589.3(ROGDI):c.319C>G (p.Gln107Glu)
|
rs1211419981
|
|
NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp)
|
rs1585816128
|
|
NM_024607.4(PPP1R3B):c.518C>T (p.Thr173Ile)
|
rs984779373
|
|
NM_024652.6(LRRK1):c.2785G>T (p.Glu929Ter)
|
rs766875506
|
|
NM_024678.6(NARS2):c.10del (p.Val4fs)
|
rs1555047651
|
|
NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly)
|
rs751383065
|
|
NM_024740.2(ALG9):c.1173+2T>A
|
rs786205134
|
|
NM_024769.5(CLMP):c.664C>T (p.Arg222Ter)
|
rs587776966
|
|
NM_024824.5(ZC3H14):c.1424C>T (p.Ser475Phe)
|
rs370546299
|
|
NM_024830.5(LPCAT1):c.1235G>T (p.Cys412Phe)
|
rs587776361
|
|
NM_024854.5(PYROXD1):c.1004_1006del (p.Gly335del)
|
rs1565554407
|
|
NM_024919.6(FRMD1):c.508G>T (p.Val170Leu)
|
rs199740559
|
|
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp)
|
rs1457240197
|
|
NM_024989.4(PGAP1):c.776T>G (p.Leu259Ter)
|
rs1702534679
|
|
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala)
|
rs1553847587
|
|
NM_025099.6(CTC1):c.3358C>T (p.Gln1120Ter)
|
rs1986946690
|
|
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)
|
rs771266705
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr)
|
rs1595283708
|
|
NM_025215.6(PUS1):c.813del (p.Phe272fs)
|
rs1566148136
|
|
NM_030632.3(ASXL3):c.4066A>G (p.Ser1356Gly)
|
rs1568365522
|
|
NM_030632.3(ASXL3):c.5587_5598del (p.Ser1863_Ser1866del)
|
rs2067762952
|
|
NM_030653.4(DDX11):c.2017G>T (p.Glu673Ter)
|
rs1946297931
|
|
NM_030653.4(DDX11):c.2457+1G>T
|
rs745501673
|
|
NM_030761.5(WNT4):c.944T>G (p.Phe315Cys)
|
rs1334778982
|
|
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter)
|
rs751010317
|
|
NM_030954.4(RNF170):c.304T>C (p.Cys102Arg)
|
rs1183403793
|
|
NM_031372.4(HNRNPDL):c.1012C>T (p.Arg338Cys)
|
rs1553900864
|
|
NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met)
|
rs1569473370
|
|
NM_031433.4(MFRP):c.1250del (p.Thr417fs)
|
rs1950517316
|
|
NM_031448.6(C19orf12):c.371dup (p.Met124fs)
|
rs1568326754
|
|
NM_031844.3(HNRNPU):c.133G>C (p.Glu45Gln)
|
rs1680938345
|
|
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs)
|
rs779453109
|
|
NM_032043.3(BRIP1):c.848G>A (p.Cys283Tyr)
|
rs771096783
|
|
NM_032119.4(ADGRV1):c.16523_16525dup (p.Val5508dup)
|
rs1561814642
|
|
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe)
|
rs1338945655
|
|
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)
|
rs1277509410
|
|
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs)
|
rs756959430
|
|
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs)
|
rs1569172839
|
|
NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp)
|
rs1568989210
|
|
NM_032634.4(PIGO):c.1851_1866del (p.Asn617fs)
|
rs1829446449
|
|
NM_032634.4(PIGO):c.835G>A (p.Gly279Arg)
|
rs1829532392
|
|
NM_032656.4(DHX37):c.2453G>A (p.Arg818Lys)
|
rs1594477300
|
|
NM_032918.3(RERG):c.250T>C (p.Tyr84His)
|
rs1555118541
|
|
NM_032974.5(CASP10):c.1427T>G (p.Phe476Cys)
|
rs1559320359
|
|
NM_032977.4(CASP10):c.422C>A (p.Ser141Ter)
|
rs780552445
|
|
NM_033004.4(NLRP1):c.790del (p.Cys264fs)
|
rs1597460588
|
|
NM_033028.5(BBS4):c.75dup (p.Ala26fs)
|
rs1567398832
|
|
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs)
|
rs773160902
|
|
NM_033056.4(PCDH15):c.5659A>T (p.Lys1887Ter)
|
rs2076305143
|
|
NM_033087.4(ALG2):c.218_225del (p.Asp73fs)
|
rs1828806280
|
|
NM_033305.3(VPS13A):c.3499_3503del (p.Ser1167fs)
|
rs1827795601
|
|
NM_033305.3(VPS13A):c.904C>T (p.Leu302Phe)
|
rs541051874
|
|
NM_033419.5(PGAP3):c.432+1G>A
|
rs1555610241
|
|
NM_033453.4(ITPA):c.489-1G>T
|
|
|
NM_033629.6(TREX1):c.243_246del (p.Ser82fs)
|
rs2040335386
|
|
NM_052867.4(NALCN):c.2648G>T (p.Gly883Val)
|
rs746926466
|
|
NM_052867.4(NALCN):c.3269G>A (p.Trp1090Ter)
|
rs1555379886
|
|
NM_052867.4(NALCN):c.410C>T (p.Ser137Leu)
|
rs1555343688
|
|
NM_052867.4(NALCN):c.5188G>A (p.Glu1730Lys)
|
rs1566761140
|
|
NM_052905.4(FMNL2):c.1673_1674insA (p.Pro560fs)
|
rs3080632
|
|
NM_080680.3(COL11A2):c.2754del (p.Gly919fs)
|
rs1562336726
|
|
NM_080680.3(COL11A2):c.3662C>T (p.Pro1221Leu)
|
rs1562323483
|
|
NM_080704.4(TRPV1):c.63C>A (p.Cys21Ter)
|
rs1567672200
|
|
NM_080860.4(RSPH1):c.315C>G (p.Tyr105Ter)
|
rs144037391
|
|
NM_080864.4(RLN3):c.287C>A (p.Ser96Ter)
|
rs1425553674
|
|
NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys)
|
rs1204316787
|
|
NM_130797.4(DPP6):c.1388T>C (p.Ile463Thr)
|
rs1554471895
|
|
NM_130797.4(DPP6):c.1714+1G>T
|
rs1563285184
|
|
NM_133379.5(TTN):c.11016T>A (p.Tyr3672Ter)
|
rs762962308
|
|
NM_133379.5(TTN):c.14304dup (p.Ala4769fs)
|
rs1454950897
|
|
NM_133433.4(NIPBL):c.1435C>G (p.Arg479Gly)
|
rs1554015303
|
|
NM_133433.4(NIPBL):c.6534_6535del (p.Met2178fs)
|
|
|
NM_133433.4(NIPBL):c.6769A>G (p.Lys2257Glu)
|
rs947067048
|
|
NM_134261.3(RORA):c.17C>T (p.Ala6Val)
|
rs1596088862
|
|
NM_138395.4(MARS2):c.341G>T (p.Cys114Phe)
|
rs1574775353
|
|
NM_138395.4(MARS2):c.799C>T (p.Pro267Ser)
|
rs1574775779
|
|
NM_138615.3(DHX30):c.1867C>A (p.Leu623Ile)
|
rs1576518614
|
|
NM_138927.4(SON):c.2076TAC[1] (p.Thr694del)
|
rs1601261295
|
|
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg)
|
rs2048682725
|
|
NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser)
|
rs1559746613
|
|
NM_144670.6(A2ML1):c.1218del (p.Gly407fs)
|
rs1555109581
|
|
NM_144672.4(OTOA):c.1820C>T (p.Ala607Val)
|
rs764347046
|
|
NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg)
|
rs1567391195
|
|
NM_144772.3(NAXE):c.326dup (p.Thr110fs)
|
rs779820587
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_145064.3(STAC3):c.560T>A (p.Met187Lys)
|
rs1461373398
|
|
NM_145064.3(STAC3):c.82C>T (p.Gln28Ter)
|
rs2037842612
|
|
NM_145207.3(AFG2A):c.2405G>A (p.Arg802Lys)
|
rs1741466672
|
|
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe)
|
rs752913622
|
|
NM_145262.4(GLYCTK):c.60_62del (p.Trp21del)
|
rs1553621315
|
|
NM_152263.4(TPM3):c.503G>A (p.Arg168His)
|
rs121964852
|
|
NM_152328.5(ADSS1):c.36dup (p.Gly13fs)
|
rs781559734
|
|
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val)
|
rs762620949
|
|
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)
|
rs752939204
|
|
NM_152419.3(HGSNAT):c.235-9T>G
|
rs913764481
|
|
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs)
|
rs1563509743
|
|
NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs)
|
rs1588810676
|
|
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs)
|
rs1554826615
|
|
NM_152564.5(VPS13B):c.6578_6579insTA (p.Trp2193fs)
|
rs1554922054
|
|
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter)
|
rs1833092121
|
|
NM_152564.5(VPS13B):c.9463C>T (p.Leu3155Phe)
|
rs1588761583
|
|
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del)
|
rs1562582216
|
|
NM_152743.4(BRAT1):c.398A>G (p.His133Arg)
|
|
|
NM_153033.5(KCTD7):c.677G>C (p.Cys226Ser)
|
rs1554300943
|
|
NM_153610.5(CMYA5):c.11555+1G>T
|
rs113278131
|
|
NM_153704.6(TMEM67):c.1676C>G (p.Thr559Arg)
|
rs1563470521
|
|
NM_153811.3(SLC38A6):c.323A>G (p.Tyr108Cys)
|
rs181093232
|
|
NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln)
|
rs936843937
|
|
NM_170606.3(KMT2C):c.2657G>A (p.Arg886His)
|
rs112773078
|
|
NM_170707.4(LMNA):c.1620G>A (p.Met540Ile)
|
rs483352811
|
|
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)
|
rs1553261858
|
|
NM_170707.4(LMNA):c.703C>A (p.Arg235Ser)
|
rs201227908
|
|
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)
|
rs1165819867
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter)
|
rs1728203978
|
|
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr)
|
rs1553957915
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|
NM_172250.3(MMAA):c.970G>A (p.Val324Ile)
|
rs1010220185
|
|
NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala)
|
rs1558526097
|
|
NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp)
|
rs1566996154
|
|
NM_173660.5(DOK7):c.626C>T (p.Pro209Leu)
|
rs902286336
|
|
NM_174912.4(FAAH2):c.267_275+2del
|
rs1555959573
|
|
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp)
|
rs963383651
|
|
NM_176787.5(PIGN):c.310G>C (p.Gly104Arg)
|
rs1555696900
|
|
NM_176787.5(PIGN):c.377T>C (p.Leu126Pro)
|
rs1599653706
|
|
NM_176795.5(HRAS):c.500dup (p.Pro169fs)
|
rs35613389
|
|
NM_176806.4(MOCS2):c.134A>C (p.His45Pro)
|
rs1561177917
|
|
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)
|
rs1726157542
|
|
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)
|
rs1131692047
|
|
NM_177924.5(ASAH1):c.592G>A (p.Val198Ile)
|
rs151320126
|
|
NM_178012.5(TUBB2B):c.1105G>T (p.Gly369Cys)
|
rs1581525702
|
|
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)
|
rs1221939030
|
|
NM_181523.3(PIK3R1):c.911C>T (p.Ala304Val)
|
rs1554049827
|
|
NM_181581.3(DUS4L):c.-349_-348insGGCCC
|
rs1584977236
|
|
NM_181675.4(PPP2R2B):c.119C>T (p.Ala40Val)
|
rs1554126530
|
|
NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu)
|
rs869025604
|
|
NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])
|
rs1555801137
|
|
NM_181882.3(PRX):c.4050del (p.Ser1351fs)
|
rs766124869
|
|
NM_181882.3(PRX):c.979del (p.Asp327fs)
|
rs1568708792
|
|
NM_182476.3(COQ6):c.1256A>C (p.His419Pro)
|
rs1180320611
|
|
NM_182641.4(BPTF):c.1979A>G (p.Lys660Arg)
|
rs2061144291
|
|
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)
|
rs1703021709
|
|
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter)
|
rs1553575867
|
|
NM_182914.3(SYNE2):c.11900T>G (p.Phe3967Cys)
|
rs1567266829
|
|
NM_182914.3(SYNE2):c.12037A>T (p.Asn4013Tyr)
|
rs1555478028
|
|
NM_182914.3(SYNE2):c.12609+1G>T
|
rs745516407
|
|
NM_182914.3(SYNE2):c.17557G>C (p.Glu5853Gln)
|
rs1158170304
|
|
NM_182914.3(SYNE2):c.20654C>G (p.Thr6885Ser)
|
rs1596340525
|
|
NM_182914.3(SYNE2):c.8272C>T (p.Pro2758Ser)
|
rs771389608
|
|
NM_182961.4(SYNE1):c.11083-4A>G
|
rs764920428
|
|
NM_182961.4(SYNE1):c.1376A>C (p.His459Pro)
|
rs1593394821
|
|
NM_182961.4(SYNE1):c.13828G>C (p.Glu4610Gln)
|
rs1590224228
|
|
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys)
|
rs1554768095
|
|
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)
|
rs1554451078
|
|
NM_182961.4(SYNE1):c.18012+1G>T
|
rs1562842409
|
|
NM_182961.4(SYNE1):c.23461-1G>A
|
rs1586909309
|
|
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu)
|
rs1562922141
|
|
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter)
|
rs1564136499
|
|
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly)
|
rs1564070652
|
|
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile)
|
rs1245972676
|
|
NM_182961.4(SYNE1):c.434T>A (p.Leu145His)
|
rs755531859
|
|
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter)
|
rs1563941569
|
|
NM_183065.4(TMEM107):c.*755C>T
|
rs75008470
|
|
NM_183357.3(ADCY5):c.100G>C (p.Glu34Gln)
|
rs1559883468
|
|
NM_183357.3(ADCY5):c.1368G>A (p.Met456Ile)
|
rs1286137967
|
|
NM_183357.3(ADCY5):c.1750G>A (p.Val584Ile)
|
rs1941613094
|
|
NM_183357.3(ADCY5):c.575_580dup (p.Asp192_Ser193dup)
|
rs1553751196
|
|
NM_194279.4(ISCA2):c.355G>A (p.Ala119Thr)
|
rs1595231072
|
|
NM_194293.4(XIRP1):c.352G>A (p.Val118Met)
|
rs115823205
|
|
NM_198129.4(LAMA3):c.4246G>A (p.Val1416Met)
|
rs77331026
|
|
NM_198239.2(CCN6):c.740_741del (p.Cys247fs)
|
rs727503755
|
|
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro)
|
rs1355198242
|
|
NM_201384.3(PLEC):c.1685A>G (p.His562Arg)
|
rs1554718277
|
|
NM_201384.3(PLEC):c.983A>C (p.Glu328Ala)
|
rs1564148072
|
|
NM_201525.4(ADGRG1):c.1148C>A (p.Thr383Asn)
|
rs1305914929
|
|
NM_203290.4(POLR1C):c.110A>G (p.Asp37Gly)
|
rs1004141332
|
|
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile)
|
rs1554131502
|
|
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs)
|
rs1488690709
|
|
NM_205836.3(FBXO38):c.2075C>T (p.Pro692Leu)
|
rs1581280139
|
|
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)
|
rs772624410
|
|
NM_206933.4(USH2A):c.8271T>G (p.Tyr2757Ter)
|
rs1571774019
|
|
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)
|
rs772226399
|
|
NM_207111.4(RNF216):c.202-1G>C
|
rs1562451985
|
|
NM_207122.2(EXT2):c.571A>G (p.Met191Val)
|
rs1324170921
|
|
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr)
|
rs767743882
|
|
NM_213599.3(ANO5):c.1078T>C (p.Cys360Arg)
|
rs1554929292
|
|
NM_213599.3(ANO5):c.1693_1715del (p.Phe565fs)
|
rs1554931773
|
|
NM_213655.5(WNK1):c.2172dup (p.Pro725fs)
|
rs910119961
|
|
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu)
|
rs376668943
|
|
NR_027928.2(CHKB-CPT1B):n.772_780del
|
rs1603443745
|
|